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Sample records for genetic case-control women

  1. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

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    Arakawa Masashi; Tanaka Keiko; Miyake Yoshihiro

    2011-01-01

    Abstract Background Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Methods Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC) for eczema. Control subjects were 1,...

  2. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan.

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    Miyake, Yoshihiro; Tanaka, Keiko; Arakawa, Masashi

    2011-10-21

    Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC) for eczema. Control subjects were 1,082 women without eczema according to the ISAAC criteria, who had not been diagnosed with atopic eczema by a doctor and who had no current asthma as defined by the European Community Respiratory Health Survey criteria. Adjustment was made for age, region of residence, number of children, smoking, and education. The minor TT genotype of SNP rs1800925 was significantly associated with an increased risk of eczema in the co-dominant model: the adjusted odds ratio was 2.19 (95% confidence interval: 1.03-4.67). SNP rs20541 was not related to eczema. None of the haplotypes were significantly associated with eczema. Compared with women with the CC or CT genotype of SNP rs1800925 who had never smoked, those with the TT genotype who had ever smoked had a 2.85-fold increased risk of eczema, though the adjusted odds ratio was not statistically significant, and neither multiplicative nor additive interaction was statistically significant. Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japanese young adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking with regard to eczema.

  3. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

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    Arakawa Masashi

    2011-10-01

    Full Text Available Abstract Background Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Methods Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC for eczema. Control subjects were 1,082 women without eczema according to the ISAAC criteria, who had not been diagnosed with atopic eczema by a doctor and who had no current asthma as defined by the European Community Respiratory Health Survey criteria. Adjustment was made for age, region of residence, number of children, smoking, and education. Results The minor TT genotype of SNP rs1800925 was significantly associated with an increased risk of eczema in the co-dominant model: the adjusted odds ratio was 2.19 (95% confidence interval: 1.03-4.67. SNP rs20541 was not related to eczema. None of the haplotypes were significantly associated with eczema. Compared with women with the CC or CT genotype of SNP rs1800925 who had never smoked, those with the TT genotype who had ever smoked had a 2.85-fold increased risk of eczema, though the adjusted odds ratio was not statistically significant, and neither multiplicative nor additive interaction was statistically significant. Conclusions Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japanese young adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking with regard to eczema.

  4. Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study

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    Wozniak Marcella A

    2009-12-01

    Full Text Available Abstract Background Population-based association studies are used to identify common susceptibility variants for complex genetic traits. These studies are susceptible to confounding from unknown population substructure. Here we apply a model-based clustering approach to our case-control study of stroke among young women to examine if self-reported ethnicity can serve as a proxy for genetic ancestry. Findings A population-based case-control study of stroke among women aged 15-49 identified 361 cases of first ischemic stroke and 401 age-comparable control subjects. Thirty single nucleotide polymorphisms (SNPs throughout the genome unrelated to stroke risk and with established ancestry-based allele frequency differences were genotyped in all participants. The Structure program was used to iteratively evaluate for K = 1 to 5 potential genetic-based subpopulations. Evaluating the population as a whole, the Structure output plateaued at K = 2 clusters. 98% of self-reported Caucasians had an estimated probability ≥50% of belonging to Cluster 1, while 94% of self-reported African-Americans had an estimated probability ≥50% of belonging to Cluster 2. Stratifying the participants by self-reported ethnicity and repeating the analyses revealed the presence of two clusters among Caucasians, suggesting that potential substructure may exist. Conclusions Among our combined sample of African-American and Caucasian participants there is no large unknown subpopulation and self-reported ethnicity can serve as a proxy for genetic ancestry. Ethnicity-specific analyses indicate that population substructure may exist among the Caucasian participants indicating that further studies are warranted.

  5. Genetics University of Toronto Thrombophilia Study in Women (GUTTSI: genetic and other risk factors for venous thromboembolism in women

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    Evrovski Jovan

    2001-05-01

    Full Text Available Abstract Background Women may be at increased risk for venous thromboembolism (VTE as compared with men. We studied the effects of genetic and biochemical markers of thrombophilia in women, in conjunction with other established risk factors for VTE. Method The present retrospective case-control study was conducted in a thrombosis treatment programme at a large Toronto hospital. The cases were 129 women aged 16-79 years with objectively confirmed VTE. Age-matched control individuals were women who were free of venous thrombosis. Neither cases nor control individuals had known cardiovascular disease. Participants were interviewed regarding personal risk factors for VTE, including smoking, history of malignancy, pregnancy, and oestrogen or oral contraceptive use. Blood specimens were analyzed for common single nucleotide polymorphisms of prothrombin, factor V and methylenetetrahydrofolate reductase (MTHFR; C677T, A1298C and T1317C, and the A66G polymorphism for methionine synthase reductase (MTRR.Fasting plasma homocysteine was also analyzed. Results Women with VTE were significantly more likely than female control individuals to carry the prothrombin polymorphism and the factor V polymorphism, or to have fasting hyperhomocysteinaemia. Homozygosity for the C677T MTHFR gene was not a significant risk factor for VTE, or were the A1298C or T1317C MTHFR homozygous variants. Also, the A66G MTRR homozygous state did not confer an increased risk for VTE. Conclusion Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.

  6. Modified metabolic syndrome and second cancers in women: A case control study.

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    Ortiz-Mendoza, Carlos-Manuel; Pérez-Chávez, Ernesto; Fuente-Vera, Tania-Angélica De-la

    2016-01-01

    According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. To find out the implication of the modified metabolic syndrome in women with second cancers. This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases) and age-matched women with only one neoplasm (controls). The analysis comprised: Tumor (s), anthropometric features, and body mass index (BMI); moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 ) was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1). Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  7. Modified metabolic syndrome and second cancers in women: A case control study

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    Carlos-Manuel Ortiz-Mendoza

    2016-01-01

    Full Text Available Background: According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. Aim: To find out the implication of the modified metabolic syndrome in women with second cancers. Materials and Methods: This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases and age-matched women with only one neoplasm (controls. The analysis comprised: Tumor (s, anthropometric features, and body mass index (BMI; moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. Results: The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1. Conclusion: Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  8. Putative periodontopathic bacteria and herpesviruses in pregnant women: a case-control study

    OpenAIRE

    Lu, Haixia; Zhu, Ce; Li, Fei; Xu, Wei; Tao, Danying; Feng, Xiping

    2016-01-01

    Little is known about herpesvirus and putative periodontopathic bacteria in maternal chronic periodontitis. The present case-control study aimed to explore the potential relationship between putative periodontopathic bacteria and herpesviruses in maternal chronic periodontitis.Saliva samples were collected from 36 pregnant women with chronic periodontitis (cases) and 36 pregnant women with healthy periodontal status (controls). Six putative periodontopathic bacteria (Porphyromonas gingivalis ...

  9. The Effects of Coping Therapy on General Health of Pregnant Women with High Risk of Genetics Abnormalities in their Fetus

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    F Nazmiye

    2016-11-01

    Full Text Available Introduction: The physiological changes in pregnancy lead to the psychological pressures. Therefore, there is a need for applying cognitive behavioral and emotional confronting to encounter these problems. The present research investigated the effect of coping therapy on general health of pregnant women with high risk of genetic abnormalities in their fetus. Methods: The present study was a semi experimental research. Pre and post tests were used to investigate coping therapy between 30 pregnant women who were referred to Khatomolanbia Genetic Clinic, Yazd, Iran. All the women had pregnancy screening test with high risk of genetics abnormalities in their fetus. They were divided randomly into two groups of case and controls. The test of GHQ was performed in both groups, then the case groups went under 8 sessions of teaching coping therapy each lasting 120 min. After finishing the sessions, post test was performed and analyzing the data using descriptive statistical index and covariance analysis test. Results: Teaching coping therapy to case group caused improvement in their GHQ mark, and this change was significantly different from the change in the GHQ mark of control group. In addition, there was a significant decrease in anxiety, depression and physical signs and an improvement of social function in case group compare to the control group. Discussion: Teaching coping therapy can improve the general health of pregnant women with high risk of genetic abnormalities in their fetus. Therefore, presenting educational courses to the women can improve their general health indices in addition to preventing the probable effects of stress on fetus.

  10. Risk factors for syphilis in women: case-control study

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    Vilma Costa de Macêdo

    2017-08-01

    Full Text Available ABSTRACT OBJECTIVE To determine the sociodemographic, behavioral, and health care factors related to the occurrence of syphilis in women treated at public maternity hospitals. METHODS This is a case-control study (239 cases and 322 controls with women admitted to seven maternity hospitals in the municipality of Recife, Brazil, from July 2013 to July 2014. Eligible women were recruited after the result of the VDRL (Venereal Disease Research Laboratory under any titration. The selection of cases and controls was based on the result of the serology for syphilis using ELISA (enzyme-linked immunosorbent assay. The independent variables were grouped into: sociodemographic, behavioral, clinical and obstetric history, and health care in prenatal care and maternity hospital. Information was obtained by interview, during hospitalization, with the application of a questionnaire. Odds ratios and 95% confidence intervals were estimated using logistic regression to identify the predicting factors of the variable to be explained. RESULTS The logistic regression analysis identified as determinant factors for gestational syphilis: education level of incomplete basic education or illiterate (OR = 2.02, lack of access to telephone (OR = 2.4, catholic religion (OR = 1.70 , four or more pregnancies (OR = 2.2, three or more sexual partners in the last year (OR = 3.1, use of illicit drugs before the age of 18 (OR = 3.0, and use of illicit drugs by the current partner (OR = 1.7. Only one to three prenatal appointments (OR = 3.5 and a previous history of sexually transmitted infection (OR = 9.7 were also identified as determinant factors. CONCLUSIONS Sociodemographic, behavioral, and health care factors are associated with the occurrence of syphilis in women and should be taken into account in the elaboration of universal strategies aimed at the prevention and control of syphilis, but with a focus on situations of greater vulnerability.

  11. Risk factors for syphilis in women: case-control study

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    de Macêdo, Vilma Costa; de Lira, Pedro Israel Cabral; de Frias, Paulo Germano; Romaguera, Luciana Maria Delgado; Caires, Silvana de Fátima Ferreira; Ximenes, Ricardo Arraes de Alencar

    2017-01-01

    ABSTRACT OBJECTIVE To determine the sociodemographic, behavioral, and health care factors related to the occurrence of syphilis in women treated at public maternity hospitals. METHODS This is a case-control study (239 cases and 322 controls) with women admitted to seven maternity hospitals in the municipality of Recife, Brazil, from July 2013 to July 2014. Eligible women were recruited after the result of the VDRL (Venereal Disease Research Laboratory) under any titration. The selection of cases and controls was based on the result of the serology for syphilis using ELISA (enzyme-linked immunosorbent assay). The independent variables were grouped into: sociodemographic, behavioral, clinical and obstetric history, and health care in prenatal care and maternity hospital. Information was obtained by interview, during hospitalization, with the application of a questionnaire. Odds ratios and 95% confidence intervals were estimated using logistic regression to identify the predicting factors of the variable to be explained. RESULTS The logistic regression analysis identified as determinant factors for gestational syphilis: education level of incomplete basic education or illiterate (OR = 2.02), lack of access to telephone (OR = 2.4), catholic religion (OR = 1.70 ), four or more pregnancies (OR = 2.2), three or more sexual partners in the last year (OR = 3.1), use of illicit drugs before the age of 18 (OR = 3.0), and use of illicit drugs by the current partner (OR = 1.7). Only one to three prenatal appointments (OR = 3.5) and a previous history of sexually transmitted infection (OR = 9.7) were also identified as determinant factors. CONCLUSIONS Sociodemographic, behavioral, and health care factors are associated with the occurrence of syphilis in women and should be taken into account in the elaboration of universal strategies aimed at the prevention and control of syphilis, but with a focus on situations of greater vulnerability. PMID:28832758

  12. Case report: mechanisms of HIV elite control in two African women.

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    Moosa, Yumna; Tanko, Ramla F; Ramsuran, Veron; Singh, Ravesh; Madzivhandila, Mashudu; Yende-Zuma, Nonhlanhla; Abrahams, Melissa-Rose; Selhorst, Philippe; Gounder, Kamini; Moore, Penny L; Williamson, Carolyn; Abdool Karim, Salim S; Garrett, Nigel J; Burgers, Wendy A

    2018-01-25

    The majority of people living with HIV require antiretroviral therapy (ART) for controlling viral replication, however there are rare HIV controllers who spontaneously and durably control HIV in the absence of treatment. Understanding what mediates viral control in these individuals has provided us with insights into the immune mechanisms that may be important to induce for a vaccine or functional cure for HIV. To date, few African elite controllers from high incidence settings have been described. We identified virological controllers from the CAPRISA 002 cohort of HIV-1 subtype C infected women in KwaZulu Natal, South Africa, two (1%) of whom were elite controllers. We examined the genetic, clinical, immunological and virological characteristics of these two elite HIV controllers in detail, to determine whether they exhibit features of putative viral control similar to those described for elite controllers reported in the literature. In this case report, we present clinical features, CD4 + T cell and viral load trajectories for two African women over 7 years of HIV infection. Viral load became undetectable 10 months after HIV infection in Elite Controller 1 (EC1), and after 6 weeks in Elite Controller 2 (EC2), and remained undetectable for the duration of follow-up, in the absence of ART. Both elite controllers expressed multiple HLA Class I and II haplotypes previously associated with slower disease progression (HLA-A*74:01, HLA-B*44:03, HLA-B*81:01, HLA-B*57:03, HLA-DRB1*13). Fitness assays revealed that both women were infected with replication competent viruses, and both expressed higher mRNA levels of p21, a host restriction factor associated with viral control. HIV-specific T cell responses were examined using flow cytometry. EC1 mounted high frequency HIV-specific CD8+ T cell responses, including a B*81:01-restricted Gag TL9 response. Unusually, EC2 had evidence of pre-infection HIV-specific CD4+ T cell responses. We identified some features typical of

  13. Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network.

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    Hall, Taryn O; Renz, Anne D; Snapinn, Katherine W; Bowen, Deborah J; Edwards, Karen L

    2012-07-01

    To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls. Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use. One thousand two hundred sixty-seven participants responded to the survey. Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing. Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies. Although interest in and use of these tests among cases in our sample were equivalent to other population-based studies, interest in testing was higher among relatives and people who self-referred for a registry focused on cancer than among cases and controls. Additionally, our results suggest that there may be some confusion about what constitutes DTC genetic testing.

  14. Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

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    Patricia Sarrión

    Full Text Available The aims of the study were to establish the prevalence of high bone mass (HBM in a cohort of Spanish postmenopausal women (BARCOS and to assess the contribution of LRP5 and DKK1 mutations and of common bone mineral density (BMD variants to a HBM phenotype. Furthermore, we describe the expression of several osteoblast-specific and Wnt-pathway genes in primary osteoblasts from two HBM cases. A 0.6% of individuals (10/1600 displayed Z-scores in the HBM range (sum Z-score >4. While no mutation in the relevant exons of LRP5 was detected, a rare missense change in DKK1 was found (p.Y74F, which cosegregated with the phenotype in a small pedigree. Fifty-five BMD SNPs from Estrada et al. [NatGenet 44:491-501,2012] were genotyped in the HBM cases to obtain risk scores for each individual. In this small group of samples, Z-scores were found inversely related to risk scores, suggestive of a polygenic etiology. There was a single exception, which may be explained by a rare penetrant genetic variant, counterbalancing the additive effect of the risk alleles. The expression analysis in primary osteoblasts from two HBM cases and five controls suggested that IL6R, DLX3, TWIST1 and PPARG are negatively related to Z-score. One HBM case presented with high levels of RUNX2, while the other displayed very low SOX6. In conclusion, we provide evidence of lack of LRP5 mutations and of a putative HBM-causing mutation in DKK1. Additionally, we present SNP genotyping and expression results that suggest additive effects of several genes for HBM.

  15. Violence against Women and Gastroschisis: A Case-Control Study

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    Daniel Ruiz

    2013-10-01

    Full Text Available Background: Gastroschisis, a birth defect characterized by herniated fetal abdominal wall, occurs more commonly in infants born to teenage and young mothers. Ischemia of the vascular vitelline vessels is the likely mechanism of pathogenesis. Given that chronic stress and violence against women are risk factors for cardiovascular disease we explored whether these may represent risk factors for gastroschisis, when they occur during pregnancy. A case-control study was conducted, with 15 incident cases of children born with gastroschisis in the Region of Murcia, Spain, from December 2007 to June 2013. Forty concurrent controls were recruited at gestation weeks 20–24 or post-partum. All mothers of cases and controls completed a comprehensive, in-person, ‘green sheet’ questionnaire on environmental exposures. Results: Mothers of children with gastroschisis were younger, smoked more cigarettes per week relative to controls, were exposed to higher amounts of illegal drugs, and suffered from domestic violence more frequently than the controls. Multivariable logistic regression analysis highlights periconceptional ‘gender-related violence’ (OR: 16.6, 95% CI 2.7 to 101.7 and younger maternal age (OR 1.1, 95% CI 1.0–1.3. Conclusions: Violence against pregnant women is associated with birth defects, and should be studied in more depth as a cause-effect teratogenic. Psychosocial risk factors, including gender-based violence, are important for insuring the health and safety of the pregnant mother and the fetus.

  16. Putative periodontopathic bacteria and herpesviruses in pregnant women: a case-control study.

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    Lu, Haixia; Zhu, Ce; Li, Fei; Xu, Wei; Tao, Danying; Feng, Xiping

    2016-06-15

    Little is known about herpesvirus and putative periodontopathic bacteria in maternal chronic periodontitis. The present case-control study aimed to explore the potential relationship between putative periodontopathic bacteria and herpesviruses in maternal chronic periodontitis.Saliva samples were collected from 36 pregnant women with chronic periodontitis (cases) and 36 pregnant women with healthy periodontal status (controls). Six putative periodontopathic bacteria (Porphyromonas gingivalis [Pg], Aggregatibacer actinomycetemcomitans [Aa], Fusobacterium nucleatum [Fn], Prevotella intermedia [Pi], Tannerella forsythia [Tf], and Treponema denticola [Td]) and three herpesviruses (Epstein-Barr virus [EBV], human cytomegalovirus [HCMV], and herpes simplex virus [HSV]) were detected. Socio-demographic data and oral health related behaviors, and salivary estradiol and progesterone levels were also collected. The results showed no significant differences in socio-demographic background, oral health related behaviors, and salivary estradiol and progesterone levels between the two groups (all P > 0.05). The detection rates of included periodontopathic microorganisms were not significantly different between the two groups (all P > 0.05), but the coinfection rate of EBV and Pg was significantly higher in the case group than in the control group (P = 0.028). EBV and Pg coinfection may promote the development of chronic periodontitis among pregnant women.

  17. Weight, height, body mass index and risk of breast cancer in postmenopausal women: a case-control study

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    Vahdaninia Mariam

    2008-09-01

    Full Text Available Abstract Background Many women in Iran have a relatively high body mass index. To investigate whether the condition contributes to excess breast cancer cases, a case-control study was conducted to assess the relationships between anthropometric variables and breast cancer risk in Tehran, Iran. Methods All incident cases of breast cancer in the Iranian Centre for Breast Cancer (ICBC were identified through the case records. Eligible cases were all postmenopausal women with histological confirmed diagnosis of breast cancer during 1996 to year 2000. Controls were randomly selected postmenopausal women attending the ICBC for clinical breast examination during the same period. The body mass index (BMI was calculated based on weights and heights as measured by the ICBC nursing staff. Both tests for trend and logistic regression analysis were performed to calculate odds ratios and 95% confidence intervals as measures of relative risk. Results In all, 116 breast cancer cases and 116 controls were studied. There were no significant differences between cases and control with regard to most independent variables studied. However, a significant difference was observed between cases and controls indicating that the mean BMI was higher in cases as compared to controls (P = 0.004. Performing logistic regression analysis while controlling for age, age at menopause, family history of breast cancer and parity, the results showed that women with a BMI in the obese range had a three fold increased risk of breast cancer [odds ratio (OR = 3.21, 95% confidence interval (CI: 1.15–8.47]. Conclusion The results suggest that obesity in postmenopausal women could increase risk of breast cancer and it merits further investigation in populations such as Iran where it seems that many women are short in height, and have a relatively high body mass index.

  18. Reproductive life disorders in Italian celiac women. A case-control study

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    Martinelli Domenico

    2010-08-01

    Full Text Available Abstract Background The aim of this study is to explore the association between celiac disease and menstrual cycle, gestation and puerperal disorders. Methods The association between celiac disease and menstrual cycle, gestation and puerperal disorders in a sample of 62 childbearing age women (15-49 age was assessed within an age and town of residence matched case-control study conducted in 2008. Main outcome measures were the presence of one or more disorders in menstrual cycle and the presence of one or more complication during pregnancy. Results 62 celiac women (median age: 31.5, range: 17-49 and 186 healthy control (median age: 32.5, range: 15-49 were interviewed. A higher percentage of menstrual cycle disorders has been observed in celiac women. 19.4% frequency of amenorrhea was reported among celiac women versus 2.2% among healthy controls (OR = 33, 95% CI = 7.17-151.8;, p = 0.000. An association has been observed between celiac disease and oligomenorrhea, hypomenorrhea, dysmenorrhea and metrorrhagia (p Conclusions The occurrence of a significant correlation between celiac disease and reproductive disorders could suggest to consider celiac disease diagnostic procedures (serological screening in women affected by these disorders.

  19. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

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    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  20. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  1. Association between group A beta-haemolytic streptococci and vulvovaginitis in adult women: a case-control study.

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    Bruins, M J; Damoiseaux, R A M J; Ruijs, G J H M

    2009-08-01

    Guidelines for the management of vaginal discharge mention Candida albicans, Trichomonas vaginalis, bacterial vaginosis, Chlamydia trachomatis and Neisseria gonorrhoeae as causes and do not recommend full microbiological culture. The role of non-group B beta-haemolytic streptococci in vaginal cultures is unclear, except for group A streptococci that are known to cause vulvovaginitis in children. In a case-control study, we investigated the association between non-group B beta-haemolytic streptococci and vulvovaginitis in adult women. Cases were women with recurrent vaginal discharge from whom a sample was cultured. Controls were asymptomatic women who consented to submitting a vaginal swab. Group A streptococci were isolated from 49 (4.9%) of 1,010 cases and not from the 206 controls (P < 0.01). Isolation rates of group C, F and G streptococci were low and did not differ statistically between cases and controls. Group A beta-haemolytic streptococci are associated with vaginal discharge in adult women. The other non-group B streptococci require more study. For the adequate management of vaginal discharge, culturing is necessary if initial treatment fails. Guidelines should be amended according to these results.

  2. Genetic diversity of Trichomonas vaginalis reinfection in HIV-positive women.

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    Conrad, Melissa D; Kissinger, Patricia; Schmidt, Norine; Martin, David H; Carlton, Jane M

    2013-09-01

    Recently developed genotyping tools allow better understanding of Trichomonas vaginalis population genetics and epidemiology. These tools have yet to be applied to T vaginalis collected from HIV+ populations, where understanding the interaction between the pathogens is of great importance due to the correlation between T vaginalis infection and HIV transmission. The objectives of the study were twofold: first, to compare the genetic diversity and population structure of T vaginalis collected from HIV+ women with parasites from reference populations; second, to use the genetic markers to perform a case study demonstrating the usefulness of these techniques in investigating the mechanisms of repeat infections. Repository T vaginalis samples from a previously described treatment trial were genotyped at 11 microsatellite loci. Estimates of genetic diversity and population structure were determined using standard techniques and compared with previously reported estimates of global populations. Genotyping data were used in conjunction with behavioural data to evaluate mechanisms of repeat infections. T vaginalis from HIV+ women maintain many of the population genetic characteristics of parasites from global reference populations. Although there is evidence of reduced diversity and bias towards type 1 parasites in the HIV+ population, the populations share a two-type population structure and parasite haplotypes. Genotyping/behavioural data suggest that 36% (12/33) of repeat infections in HIV+ women can be attributed to treatment failure. T vaginalis infecting HIV+ women is not genetically distinct from T vaginalis infecting reference populations. Information from genotyping can be valuable for understanding mechanisms of repeat infections.

  3. Simple Algorithms to Calculate Asymptotic Null Distributions of Robust Tests in Case-Control Genetic Association Studies in R

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    Wing Kam Fung

    2010-02-01

    Full Text Available The case-control study is an important design for testing association between genetic markers and a disease. The Cochran-Armitage trend test (CATT is one of the most commonly used statistics for the analysis of case-control genetic association studies. The asymptotically optimal CATT can be used when the underlying genetic model (mode of inheritance is known. However, for most complex diseases, the underlying genetic models are unknown. Thus, tests robust to genetic model misspecification are preferable to the model-dependant CATT. Two robust tests, MAX3 and the genetic model selection (GMS, were recently proposed. Their asymptotic null distributions are often obtained by Monte-Carlo simulations, because they either have not been fully studied or involve multiple integrations. In this article, we study how components of each robust statistic are correlated, and find a linear dependence among the components. Using this new finding, we propose simple algorithms to calculate asymptotic null distributions for MAX3 and GMS, which greatly reduce the computing intensity. Furthermore, we have developed the R package Rassoc implementing the proposed algorithms to calculate the empirical and asymptotic p values for MAX3 and GMS as well as other commonly used tests in case-control association studies. For illustration, Rassoc is applied to the analysis of case-control data of 17 most significant SNPs reported in four genome-wide association studies.

  4. Challenges in Recruiting Aging Women Holocaust Survivors to a Case Control Study of Breast Cancer.

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    Vin-Raviv, Neomi; Dekel, Rachel; Barchana, Micha; Linn, Shai; Keinan-Boker, Lital

    2015-01-01

    Older adults are underrepresented in medical research for many reasons, including recruitment difficulties. Recruitment of older adults for research studies is often a time-consuming process and can be more challenging when the study involves older adults with unique exposures to traumatic events and from minority groups. The current article provides a brief overview of (a) challenges encountered while recruiting aging women Holocaust survivors for a case control study and (b) strategies used for meeting those challenges. The case group comprised women Holocaust survivors who were recently diagnosed with breast cancer and the control group comprised healthy women from a Holocaust-survivor community in Israel. Copyright 2015, SLACK Incorporated.

  5. Molecular genetic variations in vitamin D receptor gene with risk of osteoporosis in postmenopausal women

    International Nuclear Information System (INIS)

    Zahid, S.; Tahir, M.; Ahmed, S.

    2017-01-01

    To investigate the association of Vitamin D receptor (VDR) gene polymorphisms and development of osteoporosis. Methodology: This case-control study was conducted at Sir Ganga Hospital and Sheikh Zayed Hospital, Lahore, Pakistan from January 2015 to August 2015. A total of 136 postmenopausal women between 46-75 years of age were included in the study while women with serious internal disease and premature (surgical) menopause before the age of 45 years were excluded. Genotyping of VDR ApaI, TaqI and BsmI loci was done using polymerase chain reaction-restriction fragment length polymorphism. Levels of ionized calcium, C-reactive protein, alkaline phosphatase were measured and body mass index was calculated. Statistical analysis was done by using SPSS version 16.0. Results: Percentage of AA genotype was higher (28%) as compared to controls (16.6%). The postmenopausal cases showed 54% TT, 42%Tt and 4% tt genotype. The Bb genotype (42.6 %) was most frequent in both cases and controls. Postmenopausal cases and controls showed non-significant difference in alkaline phosphatase, C-reactive protein and ionized calcium levels. Conclusions: Findings explained the earlier inconsistent association results and no particular genetic variation in Vitamin D receptor gene had pronounced effect in predisposition to osteoporosis. (author)

  6. Multilocus Heterozygosity and Coronary Heart Disease: Nested Case-Control Studies in Men and Women

    DEFF Research Database (Denmark)

    Mukamal, Kenneth J.; Jensen, Majken K.; Pers, Tune Hannes

    2015-01-01

    genome scans in parallel case-control studies of coronary heart disease (CHD) nested in the Health Professionals Follow-up Study and Nurses' Health Study. We examined ∼ 700,000 single nucleotide polymorphisms (SNPs) in 435 men with incident CHD and 878 matched controls and 435 women with incident CHD...... to risk of CHD in either men or women (adjusted odds ratios per 2000 heterozygous SNPs 1.01 [95% confidence interval, 0.91-1.13] in women and 0.94 [0.84-1.06] in men). We also found no consistent associations of genome-wide heterozygosity with levels of lipids, inflammatory markers, adhesion molecules...

  7. PedGenie: meta genetic association testing in mixed family and case-control designs

    Directory of Open Access Journals (Sweden)

    Allen-Brady Kristina

    2007-11-01

    Full Text Available Abstract Background- PedGenie software, introduced in 2006, includes genetic association testing of cases and controls that may be independent or related (nuclear families or extended pedigrees or mixtures thereof using Monte Carlo significance testing. Our aim is to demonstrate that PedGenie, a unique and flexible analysis tool freely available in Genie 2.4 software, is significantly enhanced by incorporating meta statistics for detecting genetic association with disease using data across multiple study groups. Methods- Meta statistics (chi-squared tests, odds ratios, and confidence intervals were calculated using formal Cochran-Mantel-Haenszel techniques. Simulated data from unrelated individuals and individuals in families were used to illustrate meta tests and their empirically-derived p-values and confidence intervals are accurate, precise, and for independent designs match those provided by standard statistical software. Results- PedGenie yields accurate Monte Carlo p-values for meta analysis of data across multiple studies, based on validation testing using pedigree, nuclear family, and case-control data simulated under both the null and alternative hypotheses of a genotype-phenotype association. Conclusion- PedGenie allows valid combined analysis of data from mixtures of pedigree-based and case-control resources. Added meta capabilities provide new avenues for association analysis, including pedigree resources from large consortia and multi-center studies.

  8. Protocol for investigating genetic determinants of posttraumatic stress disorder in women from the Nurses' Health Study II

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    Smoller Jordan W

    2009-05-01

    Full Text Available Abstract Background One in nine American women will meet criteria for the diagnosis of posttraumatic stress disorder (PTSD in their lifetime. Although twin studies suggest genetic influences account for substantial variance in PTSD risk, little progress has been made in identifying variants in specific genes that influence liability to this common, debilitating disorder. Methods and design We are using the unique resource of the Nurses Health Study II, a prospective epidemiologic cohort of 68,518 women, to conduct what promises to be the largest candidate gene association study of PTSD to date. The entire cohort will be screened for trauma exposure and PTSD; 3,000 women will be selected for PTSD diagnostic interviews based on the screening data. Our nested case-control study will genotype1000 women who developed PTSD following a history of trauma exposure; 1000 controls will be selected from women who experienced similar traumas but did not develop PTSD. The primary aim of this study is to detect genetic variants that predict the development of PTSD following trauma. We posit inherited vulnerability to PTSD is mediated by genetic variation in three specific neurobiological systems whose alterations are implicated in PTSD etiology: the hypothalamic-pituitary-adrenal axis, the locus coeruleus/noradrenergic system, and the limbic-frontal neuro-circuitry of fear. The secondary, exploratory aim of this study is to dissect genetic influences on PTSD in the broader genetic and environmental context for the candidate genes that show significant association with PTSD in detection analyses. This will involve: conducting conditional tests to identify the causal genetic variant among multiple correlated signals; testing whether the effect of PTSD genetic risk variants is moderated by age of first trauma, trauma type, and trauma severity; and exploring gene-gene interactions using a novel gene-based statistical approach. Discussion Identification of

  9. Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.

    Directory of Open Access Journals (Sweden)

    Yue Jiang

    Full Text Available BACKGROUND: Genome-wide association studies (GWAS have identified several breast cancer susceptibility loci, and one genetic variant, rs11249433, at 1p11.2 was reported to be associated with breast cancer in European populations. To explore the genetic variants in this region associated with breast cancer in Chinese women, we conducted a two-stage fine-mapping study with a total of 1792 breast cancer cases and 1867 controls. METHODOLOGY/PRINCIPAL FINDINGS: Seven single nucleotide polymorphisms (SNPs including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan® OpenArray™ Genotyping System for stage 1 samples (878 cases and 900 controls. In stage 2 (914 cases and 967 controls, three SNPs (rs2580520, rs4844616 and rs11249433 were further selected and genotyped for validation. The results showed that one SNP (rs2580520 located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model [Odds Ratio (OR  =  1.66, 95% confidence interval (CI  =  1.16-2.36 for stage 2 samples; OR  =  1.51, 95% CI  =  1.16-1.97 for combined samples, respectively]. However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92-1.57. CONCLUSIONS/SIGNIFICANCE: Genotypes of rs2580520 at 1p11.2 suggest that Chinese women may have different breast cancer susceptibility loci, which may contribute to the development of breast cancer in this population.

  10. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2004-01-01

    .... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCAl/2 testing, quality of life, and cancer control practices...

  11. Sociodemographic differences among HIV-positive and HIV-negative recently pregnant women in Mexico City: A case-control study.

    Science.gov (United States)

    Aguilar-Zapata, Daniel; Piñeirúa-Menéndez, Alicia; Volkow-Fernández, Patricia; Rodríguez-Zulueta, Patricia; Ramos-Alamillo, Ubaldo; Cabrera-López, Teresita; Martin-Onraet, Alexandra

    2017-07-01

    National HIV preventive programs in Mexico focus on high-risk groups that do not consider women, apart from prenatal screening. Nonetheless, the epidemic in women is growing, and there is a need to better understand sociodemographic factors in women living with HIV (WLH). We performed a case-control study in Mexico City, including HIV+ and HIV- women with a recent pregnancy to compare their sociodemographic characteristics and describe the circumstances of diagnosis in HIV+ women, as well as prenatal screening frequency in both groups. Fifty cases and 102 controls were interviewed. HIV+ women were more frequently the only economic support of the family (20% vs 0%, P history of sexually transmitted diseases, substance abuse, history of violence, and civil status. Only 6% of controls were tested for HIV during prenatal follow-up. WLH in this study faced important social vulnerability. Targeting women living in these social contexts might increase early diagnosis and could tailor HIV prevention strategies. Prenatal coverage needs to be improved and should represent a national priority.

  12. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2005-01-01

    .... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCA1/2 testing, quality of life, and cancer control practices...

  13. Genetic variation of the androgen receptor and risk of myocardial infarction and ischemic stroke in women.

    Science.gov (United States)

    Rexrode, Kathryn M; Ridker, Paul M; Hegener, Hillary H; Buring, Julie E; Manson, JoAnn E; Zee, Robert Y L

    2008-05-01

    Androgen receptors (AR) are expressed in endothelial cells and vascular smooth-muscle cells. Some studies suggest an association between AR gene variation and risk of cardiovascular disease (CVD) in men; however, the relationship has not been examined in women. Six haplotype block-tagging single nucleotide polymorphisms (rs962458, rs6152, rs1204038, rs2361634, rs1337080, rs1337082), as well as the cysteine, adenine, guanine (CAG) microsatellite in exon 1, of the AR gene were evaluated among 300 white postmenopausal women who developed CVD (158 myocardial infarctions and 142 ischemic strokes) and an equal number of matched controls within the Women's Health Study. Genotype distributions were similar between cases and controls, and genotypes were not significantly related to risk of CVD, myocardial infarctions or ischemic stroke in conditional logistic regression models. Seven common haplotypes were observed, but distributions did not differ between cases and controls nor were significant associations observed in logistic regression analysis. The median CAG repeat length was 21. In conditional logistic regression, there was no association between the number of alleles with CAG repeat length >or=21 (or >or=22) and risk of CVD, myocardial infarctions or ischemic stroke. No association between AR genetic variation, as measured by haplotype-tagging single nucleotide polymorphisms and CAG repeat number, and risk of CVD was observed in women.

  14. Postural changes in women with chronic pelvic pain: a case control study

    Directory of Open Access Journals (Sweden)

    Nogueira Antonio A

    2009-07-01

    Full Text Available Abstract Background Chronic pelvic pain (CPP is a lower abdominal pain lasting at least 6 months, occurring continuously or intermittently and not associated exclusively with menstruation or intercourse. Although the musculoskeletal system has been found to be involved in CPP, few studies have assessed the contribution of posture in women with CPP. We aimed to determine if the frequency of postural changes was higher in women with CPP than healthy subjects. Methods A case-control study included 108 women with CPP of more than 6 months' duration (CPP group who consecutively attended at the Hospital of the University of São Paulo and 48 healthy female volunteers (control group. Postural assessment was noninvasive and performed in the standing position, with the reference points of Kendall used as normal parameters. Factors associated with CPP were assessed by logistic regression analysis. Results Logistic regression showed that the independent factors associated with CPP were postural changes in the cervical spine (OR 4.1; 95% CI 1.6–10.7; p Conclusion Musculoskeletal changes were associated with CPP in 34% of women. These findings suggest that a more detailed assessment of women with CPP is necessary for better diagnosis and for more effective treatment.

  15. Childhood risk factors in Korean women with anorexia nervosa: two sets of case-control studies with retrospective comparisons.

    Science.gov (United States)

    Kim, Youl-Ri; Heo, Si Young; Kang, Heechan; Song, Ki Jun; Treasure, Janet

    2010-11-01

    The aim of this study was to investigate the characteristics of the risk factors for anorexia nervosa (AN) in Korean women. Two sets of case-control comparisons were conducted, in which 52 women with lifetime AN from Seoul, S. Korea, were compared with 108 Korean healthy controls and also with 42 women with lifetime AN from the UK in terms of their childhood risk factors. A questionnaire designed to conduct a retrospective assessment of the childhood risk factors was administered to all participants. The Korean AN women were more likely to report premorbid anxiety, perfectionism, and emotional undereating and were less likely to report having supportive figures in their childhood than the Korean healthy controls. There were no overall differences in the childhood risk factors between the Korean and British women with AN. Premorbid anxiety, perfectionism, less social support, and emotional undereating merit attention as risk factors in Korean AN. The current results are informative, but an epidemiologically robust prospective case-control study would be needed to validate these findings. © 2009 by Wiley Periodicals, Inc.

  16. Fertility drug use and the risk of ovarian tumors in infertile women: a case-control study.

    Science.gov (United States)

    Asante, Albert; Leonard, Phoebe H; Weaver, Amy L; Goode, Ellen L; Jensen, Jani R; Stewart, Elizabeth A; Coddington, Charles C

    2013-06-01

    To assess the influence of infertility and fertility drugs on risk of ovarian tumors. Case-control study (Mayo Clinic Ovarian Cancer Study). Ongoing academic study of ovarian cancer. A total of 1,900 women (1,028 with ovarian tumors and 872 controls, frequency matched on age and region of residence) who had provided complete information in a self-report questionnaire about history of infertility and fertility drug use. None. Effect of infertility history, use of fertility drugs and oral contraception, and gravidity on the risk of ovarian tumor development, after controlling for potential confounders. Among women who had a history of infertility, use of fertility drugs was reported by 44 (24%) of 182 controls and 38 (17%) of 226 cases. Infertile women who used fertility drugs were not at increased risk of developing ovarian tumors compared with infertile women who did not use fertility drugs; the adjusted odds ratio was 0.64 (95% CI, 0.37, 1.11). The findings were similar when stratified by gravidity and when analyzed separately for borderline versus invasive tumors. We found no statistically significant association between fertility drug use and risk of ovarian tumors. Further larger, prospective studies are needed to confirm this observation. Published by Elsevier Inc.

  17. Risk factors for breast cancer for women in Punjab, Pakistan:Results from a case-control study

    Directory of Open Access Journals (Sweden)

    Ghausia Masood Gilani

    2006-01-01

    Full Text Available Over the last three decades an increase in the incidence of breast cancer has been observed in the previously low-risk Asian countries. This study is designed to determine the risk factors of breast cancer for Pakistani women as little information exists in this regard. A case-control study of 564 female breast cancer cases diagnosed at the two cancer hospitals at Lahore (INMOL and SKMCH during the time period Jan 1, 1998 to Dec 31, 1998 was carried out. Four hundred and forty eight women aged 24-80 years out of 564 cases were complete with respect to defined criteria and were eligible for the study. Population-based controls were selected to match for age of cases in the ratio 1:2. The data were analyzed considering ‘all women’ and then separate analyses were done for ‘premenopausal’ and ‘postmenopausal women’. Women with family history of breast cancer, history of consanguineous marriage, smoking and high BMI (≥28 are at increased risk of breast cancer for all three groups. Early menarche (45 years was a strong determinant of breast cancer. Higher number of full-term pregnancies (>3 was protective for ‘all women’ and ‘premenopausal women’ but in case of ‘postmenopausal women’ the poor with higher number of pregnancies were significantly protected. Late age at first FTP (>25 years is a significant risk factor for postmenopausal women.

  18. Predictors of HIV positivity among pregnant women presenting for obstetric care in South India - a case-control study.

    Science.gov (United States)

    Solomon, Eileen; Visnegarwala, Fehmida; Philip, Philimol; Alexander, Glory

    2011-10-01

    Feminization of the HIV epidemic in India has increasingly burdened the public health infrastructure to provide prevention of mother-to-child transmission (PMTCT) services. A mere 20% of pregnant women in the country receive HIV counseling and testing. One of the strategies, for expansion of PMTCT services is to ascertain an accurate identification of HIV-positive pregnant women. Thus, we sought to characterize a demographic profile of pregnant women at high-risk for HIV infection. We performed a retrospective case-control study. We included as cases, all HIV-positive women identified in a PMTCT program implemented in 23 charitable faith-based hospitals in four states in South India over a period of 75 months, starting in January 2003. Thus a total of 320 HIV-positive cases were frequency matched using stratified random sampling to 365 HIV-negative pregnant women presenting for antenatal care during the same time period. Cases and controls were compared using Chi-square test for categorical variables and Student's t-test for continuous variables. Multivariate step-wise logistic regression analysis was performed. On multivariate analysis, following factors were independently predictive of HIV positivity: age ≤25 years (odds ratio [OR] 0.50; confidence interval [CI] 0.33-0.76; p = 0.001); illiteracy (OR 4.89; CI 2.79-8.57; p women presenting for antenatal care in the Indian setting. This type of profiling of HIV-positive pregnant women may help expand PMTCT services in a focused and cost-effective manner in India.

  19. Assessment of Health Belief Model (HBM impact on knowledge, beliefs, and self-efficacy of women in need of genetic counseling

    Directory of Open Access Journals (Sweden)

    Mitra Moodi

    2016-09-01

    Full Text Available Background and Aim: Regarding the ever-increasing of genetic diseases, counseling for the prevention of these diseases has got overwhelming necessity. Thus, promoting individuals’ awareness of. genetic counseling is required. The current study aimed at determining  the effect of an educational program based on Health Belief Model on knowledge, beliefs, and self-efficacy of urbanized women in need of genetic counseling. Materials and Methods: In this randomized field trial study, 80 married women in need of genetic counseling were divided into two equal case and control groups. Data collection means were a researcher-designed questionnaire consisting of demographic data and health belief model queries, which were completed by interview. Educational intervention was done during three 90 minute sessions with one week interval between each one. Finally, the obtained data was fed into SPSS (version 16 applying the statistical tests of Chi-square, repeated ANOVA, independent t-test, Mann-Whitney and Friedman for analysis; and P0.05, but the difference became significant immediately and three months after intervention (P<0.001. There was a significant difference between the knowledge, threat, perceived benefits, barriers and self-efficacy in the two groups three week intervals before and  immediately after intervention, before and after the three months, immediately and after three months in the experimental group (P<0.001, but the difference was not significant in the control group. Conclusion: The results showed that educational interventions based on HBM increases women's knowledge, beliefs, and self-efficacy regarding the role of genetic counseling in the prevention of congenital malformations.

  20. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

    Directory of Open Access Journals (Sweden)

    Moreno Victor

    2011-08-01

    Full Text Available Abstract Background Colorectal cancer (CRC is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium. Methods CRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family. Results None of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive, rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive, rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant, and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive. In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1

  1. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

    International Nuclear Information System (INIS)

    Abulí, Anna; Morillas, Juan D; Rigau, Joaquim; Latorre, Mercedes; Fernández-Bañares, Fernando; Peña, Elena; Riestra, Sabino; Payá, Artemio; Jover, Rodrigo; Xicola, Rosa M; Llor, Xavier; Fernández-Rozadilla, Ceres; Carvajal-Carmona, Luis; Villanueva, Cristina M; Moreno, Victor; Piqué, Josep M; Carracedo, Angel; Castells, Antoni; Andreu, Montserrat; Ruiz-Ponte, Clara; Castellví-Bel, Sergi; Alonso-Espinaco, Virginia; Muñoz, Jenifer; Gonzalo, Victoria; Bessa, Xavier; González, Dolors; Clofent, Joan; Cubiella, Joaquin

    2011-01-01

    Colorectal cancer (CRC) is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase) are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category) and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium. CRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family. None of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value < 0.05 in EPICOLON stage 1 [rs698 in ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive), rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive), rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant), and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive). In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1.12, 95% CI = 1

  2. Integrated screening concept in women with genetic predisposition for breast cancer

    International Nuclear Information System (INIS)

    Bick, U.

    1997-01-01

    Breast cancer is in 5% of cases due to a genetic disposition. BRCA1 and BRCA2 are by far the most common breast cancer susceptibility genes. For a woman with a genetic predisposition, the individual risk of developing breast cancer sometime in her life is between 70 and 90%. Compared to the spontaneous forms of breast cancer, woman with a genetic predisposition often develop breast cancer at a much younger age. This is why conventional screening programs on the basis of mammography alone cannot be applied without modification to this high-risk group. In this article, an integrated screening concept for women with genetic prodisposition for breast cancer using breast self-examination, clinical examination, ultrasound, mammography and magnetic resonance imaging is introduced. (orig.) [de

  3. Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.

    Science.gov (United States)

    Wen, Wanqing; Shu, Xiao-Ou; Guo, Xingyi; Cai, Qiuyin; Long, Jirong; Bolla, Manjeet K; Michailidou, Kyriaki; Dennis, Joe; Wang, Qin; Gao, Yu-Tang; Zheng, Ying; Dunning, Alison M; García-Closas, Montserrat; Brennan, Paul; Chen, Shou-Tung; Choi, Ji-Yeob; Hartman, Mikael; Ito, Hidemi; Lophatananon, Artitaya; Matsuo, Keitaro; Miao, Hui; Muir, Kenneth; Sangrajrang, Suleeporn; Shen, Chen-Yang; Teo, Soo H; Tseng, Chiu-Chen; Wu, Anna H; Yip, Cheng Har; Simard, Jacques; Pharoah, Paul D P; Hall, Per; Kang, Daehee; Xiang, Yongbing; Easton, Douglas F; Zheng, Wei

    2016-12-08

    Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk. We confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15-3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively. Approximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer.

  4. Developmental origins of polycystic ovary syndrome (PCOS), a case control study comparing birth weight in women with PCOS and control group.

    Science.gov (United States)

    Sadrzadeh, Sheda; Painter, Rebecca C; Lambalk, Cornelis B

    2016-10-01

    Evidence from various epidemiological studies and experimental animal studies has linked adverse intrauterine circumstances with health problems in adult life. This field of investigation is known as Developmental Origins of Health and Disease (DOHaD). Studies investigating the relation between developing polycystic ovary syndrome (PCOS) in adulthood and birth weight have yielded inconsistent results: PCOS is described more often in women with low birth weight and high birth weight, while other studies have failed to establish any relation. In this retrospective case-control study, we evaluated whether women diagnosed with PCOS had lower birth weight compared to women with a regular menstrual cycle (controls). Binary logistic regression models were used to analyze the data and correct for known confounders. About 65 women with PCOS and 96 controls were recruited for this purpose. The average birth weight of PCOS women (3357 g) did not differ from the average birth weight of controls (3409 g). Mean age at menarche differed significantly between groups, 13.7  years and 12.8  years (p = 0.006), respectively, for PCOS women and controls. In conclusion, we could not confirm the effect of adverse intrauterine conditions, reflected in birth weight, on developing PCOS.

  5. Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies

    Directory of Open Access Journals (Sweden)

    Finch Stephen J

    2005-04-01

    Full Text Available Abstract Background Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic error, on power and sample size calculations for case-control genetic association studies between a marker locus and a disease phenotype. We consider the classic Pearson chi-square test for independence as our test of genetic association. To determine asymptotic power analytically, we compute the distribution's non-centrality parameter, which is a function of the case and control sample sizes, genotype frequencies, disease prevalence, and phenotype misclassification probabilities. We derive the non-centrality parameter in the presence of phenotype errors and equivalent formulas for misclassification cost (the percentage increase in minimum sample size needed to maintain constant asymptotic power at a fixed significance level for each percentage increase in a given misclassification parameter. We use a linear Taylor Series approximation for the cost of phenotype misclassification to determine lower bounds for the relative costs of misclassifying a true affected (respectively, unaffected as a control (respectively, case. Power is verified by computer simulation. Results Our major findings are that: (i the median absolute difference between analytic power with our method and simulation power was 0.001 and the absolute difference was no larger than 0.011; (ii as the disease prevalence approaches 0, the cost of misclassifying a unaffected as a case becomes infinitely large while the cost of misclassifying an affected as a control approaches 0. Conclusion Our work enables researchers to specifically quantify power loss and minimum sample size requirements in the presence of phenotype errors, thereby allowing for more realistic study design. For most diseases of current interest, verifying that cases are correctly classified is of paramount importance.

  6. How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

    Directory of Open Access Journals (Sweden)

    Watts Kaaren J

    2012-07-01

    Full Text Available Abstract Background Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. Design/methods In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a an educational pamphlet about genetic testing (intervention or (b a genetic counseling appointment at a family cancer center (standard care. Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome;uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision

  7. Clinical factors associated with readmission for postpartum hypertension in women with pregnancy-related hypertension: a nested case control study.

    Science.gov (United States)

    Hirshberg, A; Levine, L D; Srinivas, S K

    2016-05-01

    To evaluate the association between mode of delivery and length of labor on readmission for postpartum hypertension in women with pregnancy-related hypertension. Nested case control study within a cohort of 99 women with pregnancy-related hypertension who delivered at our institution between 2005 and 2009. Data were abstracted for clinical and labor information. Mode of delivery and length of labor were compared between women with previously diagnosed pregnancy-related hypertension readmitted within 4 weeks post partum (25 cases) and those not readmitted (74 controls). Categorical and continuous variables were compared using χ(2) and T-tests, respectively. Multivariable logistic regression controlled for confounders. Hypertension readmission was not associated with mode of delivery (cases: 10(40%) spontaneous vaginal delivery, 15(60%) cesarean delivery; controls: 38(51%) spontaneous vaginal delivery, 36(49%) cesarean delivery, P=0.33). Length of labor appeared longer in cases, with a trend toward significance (median: 15.5 [7,28] h vs 10.75 [5.8,15.9] h, P=0.12) and was significantly associated with readmission after controlling for delivery mode, induction and parity (adjusted odds ratio=1.06 [1 to 1.12], P=0.048). Readmitted patients were less likely to have initially been started on antihypertensive medications after controlling for age, race and chronic hypertension (adjusted odds ratio=0.23 [0.06 to 0.88], P=0.03). Postpartum readmission for hypertension in women with known pregnancy-related hypertension is not associated with mode of delivery, appears increased in those with longer length of labor and decreased in those initially started on antihypertensive medications. This provides targets for future research to continue to improve transitions of care and reduce preventable readmissions.

  8. Physical activity in adolescence and abdominal obesity in adulthood: a case-control study among women shift workers.

    Science.gov (United States)

    Garcez, Anderson da Silva; Olinto, Maria Teresa Anselmo; Canuto, Raquel; Olinto, Beatriz Anselmo; Pattussi, Marcos Pascoal; Paniz, Vera Maria Vieira

    2015-01-01

    Physical activity may have a protective effect against abdominal obesity, an important risk factor for cardiometabolic diseases. Thus, the aim of this study was to examine the association between the practice of physical activities in adolescence and abdominal obesity in adulthood among women shift workers in Southern Brazil in 2011. This case-control study included 215 cases (waist circumference greater than or equal to 88 cm) and 326 controls. For both the case and control groups, participation in leisure-time physical activities was most frequent in adolescence and was significantly less in adulthood. After adjusting for potential confounding factors, women who participated in five or more physical activities in adolescence were 50 percent less likely to have abdominal obesity than women who participated in one activity or no physical activities (Odds Ratio = 0.50; 95% confidential interval: 0.27-0.93, p value = .029). Participation in various types of leisure-time physical activities in adolescence may protect against abdominal obesity in adulthood, even if the number of physical activities decreases over time. This finding demonstrated the importance of physical activity as well as the period of life in which these should be encouraged for the prevention of health disorders, such as abdominal obesity.

  9. Early menarche and teenager pregnancy as risk factors for morbid obesity among reproductive-age women: A case-control study.

    Science.gov (United States)

    Neves, Amanda Gonçalves; Kasawara, Karina Tamy; Godoy-Miranda, Ana Carolina; Oshika, Flávio Hideki; Chaim, Elinton Adami; Surita, Fernanda Garanhani

    2017-10-01

    The aim of this study was to evaluate potential risk factors, including non-communicable diseases, for morbid obesity in women between 20 and 49 years of age. We performed a case-control study with 110 morbidly obese women and 110 women with adequate weight who were matched by age and with a 1:1 case to control ratio. All women were between 20 to 49 years old and non-menopausal. Possible risk factors were evaluated through a self-report questionnaire assessing socio-demographic, obstetric and gynecological characteristics, presence of non-communicable diseases and habits. Multiple logistic regression was used to estimate the odds ratio with respective confidence intervals. Menarche under 12 years old, teenage pregnancy and lower educational level were shown to be risk factors for morbid obesity among women of reproductive age. Incidences of non-communicable diseases (diabetes, hypertension, dyslipidemia, liver disease, lung disease, thyroid dysfunction, and joint pain) were increased in women with morbid obesity. Early menarche, teenage pregnancy and low education level are risk factors for the occurrence of morbid obesity in women of reproductive age. Some non-communicable diseases were already more prevalent in women with morbid obesity even before 50 years of age.

  10. Psychological burden among women with polycystic ovarian syndrome in Oman: a case-control study.

    Science.gov (United States)

    Sulaiman, Maha Ah; Al-Farsi, Yahya M; Al-Khaduri, Maha M; Waly, Mostafa I; Saleh, Jumana; Al-Adawi, Samir

    2017-01-01

    Previous studies in Euro-American populations have shown that women with polycystic ovarian syndrome (PCOS) have increased levels of "psychological burden". While PCOS has been reported in Arab countries such as Oman, there is a dearth of studies of the occurrence of psychological burden among PCOS women in the Arab region. This study aimed to compare sociodemographic and clinical characteristics of PCOS women diagnosed with non-PCOS women and prevalence of severity of depression, anxiety and stress and to explore the association between PCOS and indices of psychological disturbances after adjusting for potential confounding factors. This hospital-based case-control study was conducted among women aged 16-49 years. The study included 52 women diagnosed with PCOS (as per Rotterdam 2003 criteria) and 60 control who were PCOS-free. The presence of psychological burden - depression, anxiety and stress - was quantified using Depression, Anxiety and Stress Scale-21 (DASS-21). The crude odds ratios (ORs) generated by logistic regression models indicated an increased risk of depression, anxiety and stress among women with PCOS compared to controls. The adjusted OR also indicated an increased risk of depression (OR =1.10; 95% confidence interval [CI] 0.50, 2.43), anxiety (OR =1.09; 95% CI 0.47, 2.52) and stress (OR =1.45; 95% CI 0.68, 3.12), However, no statistical differences were observed along the three psychological distresses ( p >0.05) between the two study groups. The study indicates that the presence of PCOS is associated with an increased risk of psychological burden. If this study will withstand further scrutiny, meeting psychological needs of such population would need to be contemplated.

  11. Looking for Celiac Disease in Italian Women with Endometriosis: A Case Control Study

    Directory of Open Access Journals (Sweden)

    Luca Santoro

    2014-01-01

    Full Text Available In the last years, a potential link between endometriosis and celiac disease has been hypothesized since these disorders share some similarities, specifically concerning a potential role of oxidative stress, inflammation, and immunological dysfunctions. We investigated the prevalence of celiac disease among Italian women with endometriosis with respect to general population. Consecutive women with a laparoscopic and histological confirmed diagnosis of endometriosis were enrolled; female nurses of our institution, without a known history of endometriosis, were enrolled as controls. IgA endomysial and tissue transglutaminase antibodies measurement and serum total IgA dosage were performed in both groups. An upper digestive endoscopy with an intestinal biopsy was performed in case of antibodies positivity. Presence of infertility, miscarriage, coexistence of other autoimmune diseases, and family history of autoimmune diseases was also investigated in all subjects. Celiac disease was diagnosed in 5 of 223 women with endometriosis and in 2 of 246 controls (2.2% versus 0.8%; P=0.265. Patients with endometriosis showed a largely higher rate of infertility compared to control group (27.4% versus 2.4%; P<0.001. Our results confirm that also in Italian population an increased prevalence of celiac disease among patients with endometriosis is found, although this trend does not reach the statistical significance.

  12. Case-control study of genetic and environmental influences on premature death of adult adoptees.

    Science.gov (United States)

    Petersen, Liselotte; Nielsen, Gert G; Andersen, Per Kragh; Sørensen, Thorkild I A

    2002-08-01

    Genetic and environmental influence on risk of premature death in adulthood was investigated by estimating the associations in total and cause-specific mortality of adult Danish adoptees and their biological and adoptive parents. Among all 14,427 nonfamilial adoptions formally granted in Denmark during the period 1923 through 1947, we identified 976 case families in which the adoptee died before a fixed date. As control families, we selected 976 families where the adoptees were alive on that date, and matched to the case adoptees with regard to gender and year and month of birth. The data were viewed as a cohort of case parents and a cohort of control parents, and lifetime distributions in the two cohorts were compared using a Cox regression, stratified with regard to the matching variables: gender and year of birth. In the main analyses, the sample was restricted with regard to birth year of the adoptees, and age of transfer to the adoptive parents, and age at death was restricted to the same range for parents and offspring (25-64 years) in order to consider a symmetric lifetime distribution. This reduces the sample to 459 case families and 738 control families. Various truncations, restrictions, and stratifications were used in order to examine the robustness of the results. The results showed a higher mortality among biological parents who had children dying in the age range 25 through 64 years, and this was significant for death from natural causes, infectious causes, vascular causes, and from all causes combined. There were no significant effects for the adoptive parents. This study supports that there are moderate genetic influences on the risk of dying prematurely in adulthood, and only a small, if any, effect of the family environment. Copyright 2002 Wiley-Liss, Inc.

  13. Determinants of maternal near miss among women in public hospital maternity wards in Northern Ethiopia: A facility based case-control study.

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    Dejene Ermias Mekango

    Full Text Available In Ethiopia, 20,000 women die each year from complications related to pregnancy, childbirth and post-partum. For every woman that dies, 20 more experience injury, infection, disease, or disability. "Maternal near miss" (MNM, defined by the World Health Organization (WHO as a woman who nearly dies, but survives a complication during pregnancy, childbirth or within 42 days of a termination, is a proxy indicator of maternal mortality and quality of obstetric care. In Ethiopia, few studies have examined MNM. This study aims to identify determinants of MNM among a small population of women in Tigray, Ethiopia.Unmatched case-control study was conducted in hospitals in Tigray Region, Northern Ethiopia, from January 30-March 30, 2016. The sample included 103 cases and 205 controls recruited from among women seeking obstetric care at six (6 public hospitals. Clients with life-threatening obstetric complications, including hemorrhage, hypertensive diseases of pregnancy, dystocia, infection, and anemia or clinical signs of severe anemia (in women without hemorrhage were taken as cases and those with normal obstetric outcomes were controls. Cases were selected based on proportion to size allocation while systematic sampling was employed for controls. Binary and multiple variable logistic regression ("odds ratio" analyses were calculated at 95% CI.Roughly 90% of cases and controls were married and 25% experienced their first pregnancy before the age of 16 years. About two-thirds of controls and 45.6% of cases had gestational ages between 37-41 weeks. Among cases, severe obstetric hemorrhage (44.7%, hypertensive disorders (38.8%, dystocia (17.5%, sepsis (9.7% and severe anemia (2.9% were leading causes of MNM. Histories of chronic maternal medical problems like hypertension, diabetes were reported in 55.3% of cases and 33.2% of controls. Women with no formal education [AOR = 3.2;95%CI:1.24, 8.12], being less than 16 years of age at first pregnancy [AOR = 2

  14. [Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].

    Science.gov (United States)

    Jonsdottir, Thordis; Valdimarsdottir, Heiddis; Tryggvadottir, Laufey; Lund, Sigrun Helga; Thordardottir, Marianna; Magnusson, Magnus Karl; Valdimarsdottir, Unnur

    2018-01-01

    Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (pcounseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.

  15. Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study.

    Science.gov (United States)

    Coignet, Marie V; Zirpoli, Gary Robert; Roberts, Michelle R; Khoury, Thaer; Bandera, Elisa V; Zhu, Qianqian; Yao, Song

    2017-01-01

    Reproductive aging phenotypes, including age at menarche (AM) and age at natural menopause (ANM), are well-established risk factors for breast cancer. In recent years, many genetic variants have been identified in association with AM and ANM in genome-wide association studies among European populations. Using data from the Women's Circle of Health Study (WCHS) of 1,307 European-American (EA) and 1,365 African-American (AA) breast cancer cases and controls, we aimed to replicate 53 earlier GWAS variants for AM and ANM in AA and EA groups and to perform analyses on total and net reproductive lifespan (TRLS; NRLS). Breast cancer risk was also examined in relation to a polygenic risk score (PRS) for each of the reproductive aging phenotypes. We replicated a number of variants in EA women, including rs7759938 in LIN28B for AM and rs16991615 in MCM8 for ANM; whereas in the AA group, only one SNP (rs2947411 in TMEM18) for AM was directionally consistent and nominally significant. In analysis of TRLS and NRLS, several SNPs were significant, including rs466639 in RXRG that was associated with both phenotypes in both AA and EA groups. None of the PRS was associated with breast cancer risk. Given the paucity of data available among AA populations, our study contributes to the literature of genetics of reproductive aging in AA women and highlights the importance of cross population replication of GWAS variants.

  16. Genetic polymorphisms of XRCC1 (codon 399) and susceptibility to breast cancer in Iranian women, a case-control study.

    Science.gov (United States)

    Saadat, Mostafa; Kohan, Leila; Omidvari, Shahpour

    2008-10-01

    The X-ray repair cross-complementation group 1 (XRCC1) protein plays an important role in base excision repair. In the present study, we specifically investigated whether common genetic variant in XRCC1 (exon 10, codon Arg399Gln) was associated with an altered risk of breast cancer. The eligible cases were patients at chemotherapy unit of Nemazi hospital, Shiraz Iran, from October 1999 to August 2000 and from July 2004 to July 2005. The present study included 186 females with breast cancer. Age frequency-matched controls were randomly selected from the healthy females blood donor, according to the age distribution of the cases. A total of 187 healthy females included in the study. Using PCR-based method, the XRCC1 Arg399Gln polymorphism was determined. In control group the 399Gln allele frequency was 32.6%. The genotypic frequencies of the control subjects did not show significant deviation from Hardy-Weinberg equilibrium (chi(2) = 1.683, df = 1, P > 0.05). A statistically significant association was observed in comparison between Gln/Gln and Arg/Arg genotype (OR = 2.01, 95% CI:1.02-3.94, P = 0.041). There was no linear trend for presence of 0, 1, and 2 of the 399Gln allele and risk of breast cancer (chi(2) = 1.212, P = 0.271). In the recessive effect of the Gln allele (comparison between Gln/Gln vs. Arg/Arg+Arg/Gln), Gln/Gln genotype significantly increased the risk of breast cancer (OR = 2.31, 95% CI:1.21-4.35, P = 0.010). In the dominant effect of the Gln allele (comparison between Gln/Gln+Arg/Gln vs. Arg/Arg), Gln/Gln+Arg/Gln genotypes was not associated with the risk of breast cancer (OR = 0.95, 95% CI:0.63-1.42, P = 0.799). It is concluded that 399Gln allele may act as a recessive allele and increase the breast cancer risk.

  17. Local-regional control in breast cancer patients with a possible genetic predisposition

    International Nuclear Information System (INIS)

    Freedman, Laura M.; Buchholz, Thomas A.; Thames, Howard D.; Strom, Eric A.; McNeese, Marsha D.; Hortobagyi, Gabriel N.; Singletary, S. Eva; Heaton, Keith M.; Hunt, Kelly K.

    2000-01-01

    Purpose: Local control rates for breast cancer in genetically predisposed women are poorly defined. Because such a small percentage of breast cancer patients have proven germline mutations, surrogates, such as a family history for breast cancer, have been used to examine this issue. The purpose of this study was to evaluate local-regional control following breast conservation therapy (BCT) in patients with bilateral breast cancer and a breast cancer family history. Methods and Materials: We retrospectively reviewed records of all 58 patients with bilateral breast cancer and a breast cancer family history treated in our institution between 1959 and 1998. The primary surgical treatment was a breast-conserving procedure in 55 of the 116 breast cancer cases and a mastectomy in 61. The median follow-up was 68 months for the BCT patients and 57 months for the mastectomy-treated patients. Results: Eight local-regional recurrences occurred in the 55 cases treated with BCT, resulting in 5- and 10-year actuarial local-regional control rates of 86% and 76%, respectively. In the nine cases that did not receive radiation as a component of their BCT, four developed local-regional recurrences (5- and 10-year local-regional control rates of BCT without radiation: 49% and 49%). The 5- and 10-year actuarial local-regional control rates for the 46 cases treated with BCT and radiation were 94% and 83%, respectively. In these cases, there were two late local recurrences, developing at 8 years and 9 years, respectively. A log rank comparison of radiation versus no radiation actuarial data was significant at p = 0.009. In the cases treated with BCT, a multivariate analysis of radiation use, patient age, degree of family history, margin status, and stage revealed that only the use of radiation was associated with improved local control (Cox regression analysis p = 0.021). The 10-year actuarial rates of local-regional control following mastectomy with and without radiation were 91% and 89

  18. Soya food intake and risk of endometrial cancer among Chinese women in Shanghai: population based case-control study

    Science.gov (United States)

    Xu, Wang Hong; Zheng, Wei; Xiang, Yong Bing; Ruan, Zhi Xian; Cheng, Jia Rong; Dai, Qi; Gao, Yu Tang; Shu, Xiao Ou

    2004-01-01

    Objective To evaluate the association of intake of soya food, a rich source of phytoestrogens, with the risk of endometrial cancer. Design Population based case-control study, with detailed information on usual soya food intake over the past five years collected by face to face interview using a food frequency questionnaire. Setting Urban Shanghai, China. Participants 832 incident cases of endometrial cancer in women aged of 30 to 69 years diagnosed during 1997-2001 and identified from the Shanghai Cancer Registry; 846 control women frequency matched to cases on age and randomly selected from the Shanghai Residential Registry. Main outcome measures Odds ratios for risk of endometrial cancer in women with different intakes of soya foods. Results Regular consumption of soya foods, measured as amount of either soya protein or soya isoflavones, was inversely associated with the risk of endometrial cancer. Compared with women with the lowest quarter of intake, the adjusted odds ratio of endometrial cancer was reduced from 0.93 to 0.85 and 0.67 with increasing quarter of soya protein intake (P for trend 0.01). A similar inverse association was observed for soya isoflavones and soya fibre intake. The inverse association seemed to be more pronounced among women with high body mass index and waist:hip ratio. Conclusion Regular intake of soya foods is associated with a reduced risk of endometrial cancer. PMID:15136343

  19. Evaluation of Renal Function in Pregnant Women with Malaria: A Case-Control Study in a Mesoendemic Area

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    Justice Afrifa

    2017-01-01

    Full Text Available Background. Malaria is known to have devastating effects on mortality in tropical and subtropical regions with the effect being magnified in people with weakened immunity such as those in pregnancy. We assessed the effect of malaria on renal function of pregnant women receiving antenatal care in a mesoendemic area of Ghana. Methodology. A case-control study that enrolled a total of 100 pregnant women (50 with confirmed gestational malaria as cases and 50 without malaria as controls. Sociodemographic characteristics, obstetric history (obtained with a questionnaire, urea, creatinine, sodium, and potassium were analyzed using a chemistry automated analyzer. Results. Plasma urea and creatinine were significantly increased (P=0.0003 and P<0.0001, resp. among cases compared to the controls. Also the levels of urea (P=0.033, creatinine (P=0.032, and parasitaemia (0.016 were significantly increased with increasing gestational age. Conclusion. Malaria has a significant impact on renal function (most importantly, urea and creatinine and is also significantly associated with increasing gestational age among our study participants.

  20. Using case-control designs for genome-wide screening for associations between genetic markers and disease susceptibility loci.

    Science.gov (United States)

    Yang, Q; Khoury, M J; Atkinson, M; Sun, F; Cheng, R; Flanders, W D

    1999-01-01

    We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every marker on all six chromosomes. Odds ratios (ORs) and 95% confidence intervals (95% CI) were estimated for all alleles of every marker. We selected the one allele for which the estimated OR had the minimum p-value to plot in the graph. Among these selected ORs, we calculated 95% CI for those that had a p-value Mycenaean population, the case-control design identified allele number 1 of marker 24 on chromosome 1 to be associated with a disease susceptibility gene, OR = 2.10 (95% CI 1.66-2.62). Our approach failed to show any other significant association between case-control status and genetic markers. Stratified analysis on the environmental risk factor (E1) provided no further evidence of significant association other than allele 1 of marker 24 on chromosome 1. These data indicate the absence of linkage disequilibrium for markers flanking loci A, B, and C. Finally, we examined the effect of gene x environment (G x E) interaction for the identified allele. Our results provided no evidence of G x E interaction, but suggested that the environmental exposure alone was a risk factor for the disease.

  1. Passive Smoking and Breast Cancer Risk among Non-Smoking Women: A Case-Control Study in China.

    Directory of Open Access Journals (Sweden)

    Bin Li

    Full Text Available The role of passive smoking on breast cancer risk was unclear. This study aimed to evaluate the association between passive smoking and breast cancer risk among Chinese women.A hospital-based case-control study, including 877 breast cancer cases and 890 controls, frequency-matched by age and residence, was conducted. A structured questionnaire was used to collect information on passive smoking history through face-to-face interview by trained interviewers. Unconditional logistic regression models were used to estimate the association between passive smoking and breast cancer risk. A positive association between any passive smoking exposure and breast cancer risk was observed. Compared with women who were never exposed to passive smoking, women who were ever exposed had a higher breast cancer risk, with the adjusted odds ratio (OR and 95% confidence interval (CI of 1.35 (1.11-1.65. Similar result was found on home passive smoking exposure and breast cancer risk, but not on workplace passive smoking exposure. Women who were ever exposed to tobacco smoke at home had a higher risk of breast cancer compared with never exposed women, with the adjusted OR (95% CI of 1.30 (1.05-1.61. Home passive smoking exposure showed significant dose-response relationships with breast cancer risk in smoker-years, cigarettes/day and total pack-years (Ptrend=0.003, 0.006 and 0.009, respectively. An increased total smoker-years of any passive exposure significantly elevated the risk of breast cancer (Ptrend<0.001. Positive associations and dose-response relationships were found among postmenopausal women and all subtypes of estrogen receptor (ER and progesterone receptor (PR status of breast cancer.Passive smoking was associated with an increased risk of breast cancer among non-smoking Chinese women. A stronger positive association with breast cancer risk was seen mainly among postmenopausal women.

  2. A case-control study of hormonal exposures as etiologic factors for ALS in women : Euro-MOTOR

    NARCIS (Netherlands)

    Rooney, James P K; Visser, Anne E; D'Ovidio, Fabrizio; Vermeulen, Roel; Beghi, Ettore; Chio, Adriano; Veldink, Jan H.; Logroscino, Giancarlo; van den Berg, Leonard H.; Hardiman, Orla

    2017-01-01

    OBJECTIVE: To investigate the role of hormonal risk factors for amyotrophic lateral sclerosis (ALS) among women from 3 European countries. METHODS: ALS cases and matched controls were recruited over 4 years in Ireland, Italy, and the Netherlands. Hormonal exposures, including reproductive history,

  3. Can Intrapartum Cardiotocography Predict Uterine Rupture among Women with Prior Caesarean Delivery?: A Population Based Case-Control Study.

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    Malene M Andersen

    Full Text Available To compare cardiotocographic abnormalities recorded during labour in women with prior caesarean delivery (CD and complete uterine rupture with those recorded in controls with prior CD without uterine rupture.Women with complete uterine rupture during labour between 1997 and 2008 were identified in the Danish Medical Birth Registry (n = 181. Cases were validated by review of medical records and 53 cases with prior CD, trial of labour, available cardiotocogram (CTG and complete uterine rupture were included and compared with 43 controls with prior CD, trial of labour and available CTG. The CTG tracings were assessed by 19 independent experts divided into groups of three different experts for each tracing. The assessors were blinded to group, outcome and clinical data. They analyzed occurrence of defined abnormalities and classified the traces as normal, suspicious, pathological or pre-terminal according to international guidelines (FIGO.A pathological CTG during the first stage of labour was present in 77% of cases and in 53% of the controls (OR 2.58 [CI: 0.96-6.94] P = 0.066. Fetal tachycardia was more frequent in cases with uterine rupture (OR 2.50 [CI: 1.0-6.26] P = 0.053. Significantly more cases showed more than 10 severe variable decelerations compared with controls (OR 22 [CI: 1.54-314.2] P = 0.022. Uterine tachysystole was not correlated with the presence of uterine rupture.A pathological cardiotocogram should lead to particular attention on threatening uterine rupture but cannot be considered a strong predictor as it is common in all women with trial of labour after caesarean delivery.

  4. The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk.

    Science.gov (United States)

    Lowery, Jan T; Byers, Tim; Axell, Lisen; Ku, Lisa; Jacobellis, Jillian

    2008-12-01

    To assess the impact of direct-to-consumer marketing for genetic testing among women of varying genetic risk for breast and ovarian cancer. Telephone surveys were conducted with 315 women in Denver, Colorado, one target audience for the Myriad BRACAnalysis ad campaign. Genetic risk was determined from personal and family history and grouped by probability of having a BRCA1/2 mutation (low or =10%). High-risk women were more knowledgeable about BRACAnalysis and more likely to recall the media ads than were low-risk women (60 vs. 39%, P audience. Concern about breast cancer was not appreciably increased. A large percentage of low-risk women (not candidates for testing) expressed interest in testing, suggesting the campaign was too broad. A campaign targeted at high-risk women, who may benefit from testing might be preferred.

  5. The yerba mate intake has a neutral effect on bone: A case-control study in postmenopausal women.

    Science.gov (United States)

    da Veiga, Denise T A; Bringhenti, Raísa; Bolignon, Aline A; Tatsh, Etiane; Moresco, Rafael N; Comim, Fabio V; Premaor, Melissa O

    2018-01-01

    Nutritional factors have been associated with osteoporosis and fractures. The intake of coffee may increase the risk of fracture whereas the intake of black and green tea is associated with its reduction. Recently, consumption of yerba mate was associated with increased bone mineral density in postmenopausal women. Nonetheless, its influence on fracture is not known. The aim of this study was to evaluate the effect of yerba mate tea intake on fractures, bone markers, calcium homeostasis, and oxidative stress in postmenopausal women. A case-control study was carried out in South Brazil, 46 women with fractures and 49 controls completed the study. There was no significant difference between the frequency of fractures in women who drank mate tea and women who did not (48.3% vs. 48.5%, p = .99). Moreover, there was no significant difference concerning the serum levels of total calcium, phosphorus, PTH, vitamin D, P1NP, and CTX in the subjects with the history of yerba mate use when compared to controls. Higher serum levels of NOx were found in women who drank the yerba mate infusion. In conclusion, the yerba mate intake is not associated with fracture, and it appears to have a neutral effect on the bone metabolism. Copyright © 2017 John Wiley & Sons, Ltd.

  6. Outcomes for Women with Gestational Diabetes Treated with Metformin: A Retrospective, Case-Control Study

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    Rachel T. McGrath

    2018-03-01

    Full Text Available Metformin is increasingly being used a therapeutic option for the management of gestational diabetes mellitus (GDM. The aim of this study was to compare the maternal characteristics and perinatal outcomes of women with GDM treated with metformin (with or without supplemental insulin with those receiving other management approaches. A retrospective, case-control study was carried out and 83 women taking metformin were matched 1:1 with women receiving insulin or diet and lifestyle modification alone. Women managed with diet and lifestyle modification had a significantly lower fasting plasma glucose (p < 0.001 and HbA1c (p < 0.01 at diagnosis of GDM. Furthermore, women managed with metformin had a higher early pregnancy body mass index (BMI compared to those receiving insulin or diet and lifestyle modification (p < 0.001. There was no difference in mode of delivery, birth weight or incidence of large- or small-for-gestational-age neonates between groups. Women receiving glucose lowering therapies had a higher rate of neonatal hypoglycaemia (p < 0.05. The incidence of other adverse perinatal outcomes was similar between groups. Despite their greater BMI, women with metformin-treated GDM did not have an increased risk of adverse perinatal outcomes. Metformin is a useful alternative to insulin in the management of GDM.

  7. Genetic variations in the Dravidian population of South West coast of India: Implications in designing case-control studies.

    Science.gov (United States)

    D'Cunha, Anitha; Pandit, Lekha; Malli, Chaithra

    2017-06-01

    Indian data have been largely missing from genome-wide databases that provide information on genetic variations in different populations. This hinders association studies for complex disorders in India. This study was aimed to determine whether the complex genetic structure and endogamy among Indians could potentially influence the design of case-control studies for autoimmune disorders in the south Indian population. A total of 12 single nucleotide variations (SNVs) related to genes associated with autoimmune disorders were genotyped in 370 healthy individuals belonging to six different caste groups in southern India. Allele frequencies were estimated; genetic divergence and phylogenetic relationship within the various caste groups and other HapMap populations were ascertained. Allele frequencies for all genotyped SNVs did not vary significantly among the different groups studied. Wright's FSTwas 0.001 per cent among study population and 0.38 per cent when compared with Gujarati in Houston (GIH) population on HapMap data. The analysis of molecular variance results showed a 97 per cent variation attributable to differences within the study population and variation due to differences between castes. Phylogenetic analysis showed a separation of Dravidian population from other HapMap populations and particularly from GIH population. Despite the complex genetic origins of the Indian population, our study indicated a low level of genetic differentiation among Dravidian language-speaking people of south India. Case-control studies of association among Dravidians of south India may not require stratification based on language and caste.

  8. The impact of socioeconomic position on severe maternal morbidity outcomes among women in Australia: a national case-control study.

    Science.gov (United States)

    Lindquist, A; Noor, N; Sullivan, E; Knight, M

    2015-11-01

    Studies in other developed countries have suggested that socioeconomic position may be a risk factor for poorer pregnancy outcomes. This analysis aimed to explore the independent impact of socioeconomic position on selected severe maternal morbidities among women in Australia. A case-control study using data on severe maternal morbidities associated with direct maternal death collected through the Australasian Maternity Outcomes Surveillance System. Australia. 623 cases, 820 controls. Logistic regression analysis to investigate differences in outcomes among different socioeconomic groups, classified by Socio-Economic Indexes for Areas (SEIFA) quintile. Severe maternal morbidity (amniotic fluid embolism, placenta accreta, peripartum hysterectomy, eclampsia or pulmonary embolism). SEIFA quintile was statistically significantly associated with maternal morbidity, with cases being twice as likely as controls to reside in the most disadvantaged areas (adjusted OR 2.00, 95%CI 1.29-3.10). Maternal age [adjusted odds ratio (aOR) 2.20 for women aged 35 or over compared with women aged 25-29, 95%CI 1.64-3.15] and previous pregnancy complications (aOR 1.30, 95%CI 1.21-1.87) were significantly associated with morbidity. A parity of 1 or 2 was protective (aOR 0.58, 95%CI 0.43-0.79), whereas previous caesarean delivery was associated with maternal morbidity (aOR 2.20 for women with one caesarean delivery, 95%CI 1.44-2.85, compared with women with no caesareans). The risk of severe maternal morbidity among women in Australia is significantly increased by social disadvantage. This study suggests that future efforts in improving maternity care provision and maternal outcomes in Australia should include socioeconomic position as an independent risk factor for adverse outcome. © 2014 Royal College of Obstetricians and Gynaecologists.

  9. Evaluation of the vaginal flora in pregnant women receiving opioid maintenance therapy: a matched case-control study.

    Science.gov (United States)

    Farr, Alex; Kiss, Herbert; Hagmann, Michael; Holzer, Iris; Kueronya, Verena; Husslein, Peter W; Petricevic, Ljubomir

    2016-08-05

    Vaginal infections are a risk factor for preterm delivery. In this study, we sought to evaluate the vaginal flora of pregnant women receiving opioid maintenance therapy (OMT) in comparison to non-dependent, non-maintained controls. A total of 3763 women with singleton pregnancies who underwent routine screening for asymptomatic vaginal infections between 10 + 0 and 16 + 0 gestational weeks were examined. Vaginal smears were Gram-stained, and microscopically evaluated for bacterial vaginosis, candidiasis, and trichomoniasis. In a retrospective manner, data of 132 women receiving OMT (cases) were matched for age, ethnicity, parity, education, previous preterm delivery, and smoking status to the data of 3631 controls. The vaginal flora at antenatal screening served as the primary outcome measure. Secondary outcome measures were gestational age and birth weight. In the OMT group, 62/132 (47 %) pregnant women received methadone, 39/132 (29.5 %) buprenorphine, and 31/132 (23.5 %) slow-release oral morphine. Normal or intermediate flora was found in 72/132 OMT women (54.5 %) and 2865/3631 controls [78.9 %; OR 0.49 (95 % CI, 0.33-0.71); p Candidiasis occurred more frequently in OMT women than in controls [OR 2.11 (95 % CI, 1.26-3.27); p candidiasis) and trichomoniasis. Compared to infants of the control group, those of women with OMT had a lower mean birth weight [MD -165.3 g (95 % CI, -283.6 to -46.9); p = 0.006]. Pregnant women with OMT are at risk for asymptomatic vaginal infections. As recurrent candidiasis is associated with preterm delivery, the vulnerability of this patient population should lead to consequent antenatal infection screening at early gestation.

  10. A controlled study of mental distress and somatic complaints after risk-reducing salpingo-oophorectomy in women at risk for hereditary breast ovarian cancer.

    Science.gov (United States)

    Michelsen, Trond M; Dørum, Anne; Dahl, Alv A

    2009-04-01

    Risk-reducing salpingo-oophorectomy (RRSO) provides effective protection against ovarian cancer in BRCA mutation carriers and in women at risk for hereditary breast ovarian cancer, but little is known about non-oncologic morbidity after the procedure. We explored mental distress and somatic complaints in women after RRSO compared to controls from the general population. 503 women from hereditary breast ovarian cancer families who had undergone RRSO after genetic counseling received a mailed questionnaire. 361 (71%) responded and 338 (67%) delivered complete data (cases). Controls were five randomly allocated age-matched controls per case (N=1690) from the population-based Norwegian Nord-Trøndelag Health Study (HUNT-2). Mean age of cases and controls was 54.6 years at survey. Mean time since surgery was 5.3 years (median 6.0). Compared to controls, the RRSO group had more palpitations (p=0.02), constipation (p=0.01), pain and stiffness (p=0.02), osteoporosis (p=0.02) and musculoskeletal disease (p=0.01) even after adjustments for demographic factors including use of hormonal replacement therapy. The RRSO group had lower levels of depression (pdepression (p<0.001) and total mental distress (p=0.002). In this controlled observational study, we found more somatic morbidity such as osteoporosis, palpitations, constipation, musculoskeletal disease and pain and stiffness but lower levels of mental distress among women who had undergone RRSO compared to controls.

  11. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

    Science.gov (United States)

    Firouzabadi, Negar; Ghazanfari, Nima; Alavi Shoushtari, Ali; Erfani, Nasrallah; Fathi, Farshid; Bazrafkan, Mozhdeh; Bahramali, Ehsan

    2016-01-01

    Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS) elements in cognition and behavior besides the interaction of angiotensin II (Ang II), the main product of angiotensin-converting enzyme (ACE), with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism. Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively). Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67). Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008). Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  12. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Negar Firouzabadi

    Full Text Available Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS elements in cognition and behavior besides the interaction of angiotensin II (Ang II, the main product of angiotensin-converting enzyme (ACE, with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism.Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291 with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR and PCR-restriction fragment length polymorphism (PCR-RFLP methods.There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively. Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67. Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008.Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  13. Determinants of Desire for Children among HIV-Positive Women in the Afar Region, Ethiopia: Case Control Study.

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    Fatimetu Mohammed

    Full Text Available The desire for a child in Ethiopian society is normal. Among HIV positive women, due to the risk of MTCT, it is imperative to understand factors influencing women's desire for children. This study aimed at assessing factors associated with desire for children among HIV-positive women in two selected hospitals of Afar Regional State, Ethiopia.A facility based case-control study was conducted among 157 cases (with a desire and 157 controls of HIV positive individuals registered in the selected health facilities. The participants were selected by random sampling technique. Data were collected using face-to-face interview and was analyzed using logistic regression.Factors found to be independently associated with desire for children were age categories of 20-24 years (OR = 6.22, 1.29-10.87 and 25-29 years (OR = 14.6, 3.05-21.60, being married (OR = 5.51, 2.19-13.54, Afar ethnicity (OR 6.93, 1.19-12.14, having HIV-positive children (OR 0.23, 0.09-0.63, duration on ART more than one year (3.51, 1.68-9.05, CD4 count greater than 350 (OR 4.83, 1.51-7.27 and discussion of reproductive health issues with health providers (OR 0.31, 0.12-0.51.Women who were young, married, Afar, those who received ART more than one year, and had CD4 count >350 were more likely to have a desire for children.Health care workers at ART clinic should openly discuss about the reproductive options for the women living with HIV/AIDS.

  14. Indoor pollution as an occupational risk factor for tuberculosis among women: a population-based, gender oriented, case-control study in Southern Mexico.

    Science.gov (United States)

    García-Sancho, Ma Cecilia; García-García, Lourdes; Báez-Saldaña, Renata; Ponce-De-León, Alfredo; Sifuentes-Osornio, José; Bobadilla-Del-valle, Miriam; Ferreyra-Reyes, Leticia; Cano-Arellano, Bulmaro; Canizales-Quintero, Sergio; Palacios-Merino, Luz del Carmen; Juárez-Sandino, Luis; Ferreira-Guerrero, Elizabeth; Cruz-Hervert, Luis Pablo; Small, Peter M; Pérez-Padilla, José Rogelio

    2009-01-01

    Indoor air pollution produced by biomass cooking fuels in developing countries has been associated with acute and chronic lower respiratory diseases, but has not been identified as an occupational exposure among women. To examine the relationship between the use of biomass cooking fuels (mainly wood) and tuberculosis (TB) among women living in rural areas in Southern Mexico. We conducted a population based case-control study in the health jurisdiction of Orizaba, Mexico. Cases were all incident female pulmonary TB patients, with Mycobacterium tuberculosis in sputum, living in communities with fewer than 15,000 inhabitants, diagnosed between March 1995 and April 2003. Woodsmoke exposure was assessed by applying a standardized questionnaire (ATS-DLD-78 questionnaire). Controls were randomly selected from sex-matched neighbors. Appropriate IRB approval was obtained. 42 TB cases and 84 community controls were recruited. Multivariate assessment showed that more than 20 years of exposure to smoke from biomass fuels was three times more frequent among cases than among controls [Odds ratio (OR): 3.3, 95% confidence interval (CI):1.06-10.30, p = 0.03], after controlling for age, body mass, household crowding, years of formal education and tobacco use. We found a strong association between the use of biomass cooking fuels and tuberculosis among women in a community-based, case-control study. Results of this study are intended to provide evidence to policy makers, community leaders and the general public on the importance of implementing gender oriented interventions that decrease the use of biomass fuels in poor communities in developing countries.

  15. Hormonal exposures and the risk of intracranial meningioma in women: a population-based case-control study

    International Nuclear Information System (INIS)

    Custer, Brian; Longstreth, WT Jr; Phillips, Leslie E; Koepsell, Thomas D; Van Belle, Gerald

    2006-01-01

    The role of exogenous hormone exposures in the development of meningioma is unclear, but these exposures have been proposed as one hypothesis to explain the over-abundance of such tumors in women. The association between oral contraception (OC) or hormone replacement therapy (HRT) and intracranial meningioma in women was investigated using a population-based, matched case-control study. Exposures for 143 cases and 286 controls matched on age within five years were obtained by interview. Diagnoses were confirmed histopathologically and estrogen and progesterone receptor assays conducted. Although risk of meningioma appeared modestly elevated in past OC users (OR = 1.5, 95% CI 0.8 – 2.7), and in current users (OR = 2.5, 95% CI 0.5 – 12.6), the confidence intervals were wide. No significant association between meningioma risk and duration of OC use was found. Likewise, risk of meningioma was only weakly associated with past use of HRT (OR = 0.7, 95% CI 0.4 – 1.3), and not at all with current use of HRT (OR = 1.0, 95% CI 0.5 – 2.2). Of 142 available specimens, 2 (1%) expressed estrogen receptors, whereas 130 (92%) expressed progesterone receptors (PR). OC use was associated with increased risk of a meningioma expressing less rather than more PR (OR = 3.2, 95% CI 1.3 – 8.0). Overall, in post menopausal women, HRT use appeared to confer a non-significant protective effect, and was not associated with low or high PR expressing meningiomas. This study found little evidence of associations between meningioma and exogenous hormone exposures in women but did suggest that some hormonal exposures may influence tumor biology in those women who develop meningioma

  16. African American women's limited knowledge and experiences with genetic counseling for hereditary breast cancer.

    Science.gov (United States)

    Sheppard, Vanessa B; Graves, Kristi D; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia

    2014-06-01

    Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n = 13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n = 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.

  17. Death of a Son is Associated With Risk of Suicide Among Parous Women in Taiwan: A Nested Case-Control Study

    OpenAIRE

    Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

    2012-01-01

    Background The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. Methods This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identifie...

  18. Increased Risk of Venous Thromboembolism in Women with Uterine Leiomyoma: A Nationwide, Population-Based Case-Control Study

    Science.gov (United States)

    Huang, Hung-Kai; Kor, Chew-Teng; Chen, Ching-Pei; Chen, Hung-Te; Yang, Po-Ta; Tsai, Chen-Dao; Huang, Ching-Hui

    2018-01-01

    Background Venous thromboembolism (VTE) is a sex-specific disease that has different presentations between men and women. Women with uterine leiomyoma can present with VTE without exhibiting the traditional risk factors. We investigated the relationship between a history of uterine leiomyoma and the risk of VTE using the National Health Insurance Research Database (NHIRD). Methods We conducted a retrospective, nationwide, population-based case-control study using the NHIRD. We identified 2,282 patients with diagnosed VTE and 392,635 subjects without VTE from 2000 to 2013. After development of an age and index diagnosis year frequency-matched model and propensity score-matched model, 2 models with a case-to-control ratio of 1 to 4 were established. Using the diagnosis of uterine leiomyoma as the exposure factor, conditional logistic regression was performed to examine the association between uterine leiomyoma and VTE. Multiple logistic regression analysis was used to investigate the joint effect of uterine leiomyoma and comorbid diseases on the risk of VTE. Results A strong association was observed between uterine leiomyoma and VTE in the overall patient model, frequency-matched model and propensity score-matched model [p leiomyoma who were ≥ 45 years old were less likely to experience VTE, but women with uterine leiomyoma and anemia, cancer, coronary artery disease or heart failure were more likely to experience VTE. Conclusions Women with uterine leiomyomas have an increased risk of developing VTE, especially during reproductive periods or in the presence of specific diseases. PMID:29375226

  19. [Domestic and family violence against women: a case-control study with victims treated in emergency rooms].

    Science.gov (United States)

    Garcia, Leila Posenato; Duarte, Elisabeth Carmen; Freitas, Lúcia Rolim Santana de; Silva, Gabriela Drummond Marques da

    2016-01-01

    This study aimed to identify factors associated with treatment of victims of domestic and family violence in emergency rooms in Brazil. This is a case-control study based on the Surveillance System for Violence and Accidents (VIVA), 2011. Women ≥ 18 years who were victims of family and domestic violence were selected as cases and compared to accident victims (controls). Adjusted odds ratios were estimated by unconditional logistic regression. 623 cases and 10,120 controls were included. Risk factors according to the adjusted analysis were younger age (18-29 years), low schooling, lack of paid work, alcohol consumption, having sought treatment in a different health service, and violence on weekends or at night or in the early morning hours. The study concludes that domestic and family violence shows alcohol consumption as a strongly associated factor. Days and hours with the highest ocurrence reveal the need to adjust emergency services to treat victims.

  20. Experience with multiple control groups in a large population-based case-control study on genetic and environmental risk factors.

    Science.gov (United States)

    Pomp, E R; Van Stralen, K J; Le Cessie, S; Vandenbroucke, J P; Rosendaal, F R; Doggen, C J M

    2010-07-01

    We discuss the analytic and practical considerations in a large case-control study that had two control groups; the first control group consisting of partners of patients and the second obtained by random digit dialling (RDD). As an example of the evaluation of a general lifestyle factor, we present body mass index (BMI). Both control groups had lower BMIs than the patients. The distribution in the partner controls was closer to that of the patients, likely due to similar lifestyles. A statistical approach was used to pool the results of both analyses, wherein partners were analyzed with a matched analysis, while RDDs were analyzed without matching. Even with a matched analysis, the odds ratio with partner controls remained closer to unity than with RDD controls, which is probably due to unmeasured confounders in the comparison with the random controls as well as intermediary factors. However, when studying injuries as a risk factor, the odds ratio remained higher with partner control subjects than with RRD control subjects, even after taking the matching into account. Finally we used factor V Leiden as an example of a genetic risk factor. The frequencies of factor V Leiden were identical in both control groups, indicating that for the analyses of this genetic risk factor the two control groups could be combined in a single unmatched analysis. In conclusion, the effect measures with the two control groups were in the same direction, and of the same order of magnitude. Moreover, it was not always the same control group that produced the higher or lower estimates, and a matched analysis did not remedy the differences. Our experience with the intricacies of dealing with two control groups may be useful to others when thinking about an optimal research design or the best statistical approach.

  1. A multicentre matched case control study of risk factors for Preeclampsia in healthy women in Pakistan

    Directory of Open Access Journals (Sweden)

    Qadri Zeeshan

    2010-04-01

    Full Text Available Abstract Background Preeclampsia is one of the leading causes of maternal and perinatal morbidity and mortality world-wide. The risk for developing preeclampsia varies depending on the underlying mechanism. Because the disorder is heterogeneous, the pathogenesis can differ in women with various risk factors. Understanding these mechanisms of disease responsible for preeclampsia as well as risk assessment is still a major challenge. The aim of this study was to determine the risk factors associated with preeclampsia, in healthy women in maternity hospitals of Karachi and Rawalpindi. Methods We conducted a hospital based matched case-control study to assess the factors associated with preeclampsia in Karachi and Rawalpindi, from January 2006 to December 2007. 131 hospital-reported cases of PE and 262 controls without history of preeclampsia were enrolled within 3 days of delivery. Cases and controls were matched on the hospital, day of delivery and parity. Potential risk factors for preeclampsia were ascertained during in-person postpartum interviews using a structured questionnaire and by medical record abstraction. Conditional logistic regression was used to estimate matched odds ratios (ORs and 95% confidence intervals (95% CIs. Results In multivariate analysis, women having a family history of hypertension (adjusted OR 2.06, 95% CI; 1.27-3.35, gestational diabetes (adjusted OR 6.57, 95% CI; 1.94 -22.25, pre-gestational diabetes (adjusted OR 7.36, 95% CI; 1.37-33.66 and mental stress during pregnancy (adjusted OR 1.32; 95% CI; 1.19-1.46, for each 5 unit increase in Perceived stress scale score were at increased risk of preeclampsia. However, high body mass index, maternal age, urinary tract infection, use of condoms prior to index pregnancy and sociodemographic factors were not associated with higher risk of having preeclampsia. Conclusions Development of preeclampsia was associated with gestational diabetes, pregestational diabetes, family

  2. Interaction between common breast cancer susceptibility variants, genetic ancestry, and nongenetic risk factors in Hispanic women.

    Science.gov (United States)

    Fejerman, Laura; Stern, Mariana C; John, Esther M; Torres-Mejía, Gabriela; Hines, Lisa M; Wolff, Roger K; Baumgartner, Kathy B; Giuliano, Anna R; Ziv, Elad; Pérez-Stable, Eliseo J; Slattery, Martha L

    2015-11-01

    Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified SNPs among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight into a previously reported gene by ancestry interaction in this population. We estimated genetic ancestry with a set of 104 ancestry-informative markers selected to discriminate between Indigenous American and European ancestry. We used logistic regression models to evaluate main effects and interactions. We found that the rs13387042-2q35(G/A) SNP was associated with breast cancer risk only among postmenopausal women who never used hormone therapy [per A allele OR: 0.94 (95% confidence intervals, 0.74-1.20), 1.20 (0.94-1.53), and 1.49 (1.28-1.75) for current, former, and never hormone therapy users, respectively, Pinteraction 0.002] and premenopausal women who breastfed >12 months [OR: 1.01 (0.72-1.42), 1.19 (0.98-1.45), and 1.69 (1.26-2.26) for never, 12 months breastfeeding, respectively, Pinteraction 0.014]. The correlation between genetic ancestry, hormone replacement therapy use, and breastfeeding behavior partially explained a previously reported interaction between a breast cancer risk variant and genetic ancestry in Hispanic women. These results highlight the importance of understanding the interplay between genetic ancestry, genetics, and nongenetic risk factors and their contribution to breast cancer risk. ©2015 American Association for Cancer Research.

  3. Association of oxidative stress biomarkers with gestational diabetes mellitus in pregnant women: a case-control study.

    Directory of Open Access Journals (Sweden)

    Chunyan Zhu

    Full Text Available The relationship between gestational diabetes mellitus (GDM and oxidative stress has not been fully elucidated. This study examined the association between biomarkers of oxidative stress and GDM.We conducted a case-control study which included 36 women presenting with GDM and 36 asymptomatic matched control subjects who visited Guangzhou Women and Children's Medical Centre, China, from June 2012 to December 2012. Pregnant women were prospectively recruited to the study, and blood samples were collected at the time of a routine oral glucose tolerance test. These samples were then analyzed for levels of endocrine and surrogate markers of oxidative stress.Compared to control subjects, women with GDM exhibited elevated values for plasma glucose, insulin, and insulin resistance (IR, and showed reduced HOMA pancreatic β-cell function (HOMA-B, insulin sensitivity index (ISI, insulinogenic index, and corrected insulin response at 24-28 weeks gestation. A bivariate logistic regression analysis showed that levels of high-sensitivity C reactive protein (hs-CRP and high fluorescence reticulocytes at fasting, and hs-CRP in a 1-h OGTT, were significantly associated with GDM. A linear regression analysis showed that levels of hs-CRP (P = 0.003 and reticulocytes (P = 0.029 at fasting were associated with IR, and levels of hs-CRP (P = 0.002 and monocytes (P = 0.006 in a 1-h OGTT were associated with ISI.Pregnant women with GDM developed a pathological IR and exhibited β-cell dysfunction. Their decreased ability to compensate for oxidative stress was associated with increased IR and a reduced ISI, which might be important factors in GDM.

  4. A case-control study on risk factors of breast cancer in Han Chinese women.

    Science.gov (United States)

    Liu, Li-Yuan; Wang, Fei; Cui, Shu-De; Tian, Fu-Guo; Fan, Zhi-Min; Geng, Cui-Zhi; Cao, Xu-Chen; Yang, Zhen-Lin; Wang, Xiang; Liang, Hong; Wang, Shu; Jiang, Hong-Chuan; Duan, Xue-Ning; Wang, Hai-Bo; Li, Guo-Lou; Wang, Qi-Tang; Zhang, Jian-Guo; Jin, Feng; Tang, Jin-Hai; Li, Liang; Zhu, Shi-Guang; Zuo, Wen-Shu; Yu, Li-Xiang; Xiang, Yu-Juan; Zhou, Fei; Li, Liang; Zhang, Qiang; Fu, Qin-Ye; Ma, Zhong-Bing; Gao, De-Zong; Li, Yu-Yang; Liu, Lu; Ye, Chun-Miao; Wang, Yong-Jiu; Zhou, Wen-Zhong; Yu, Zhi-Gang

    2017-11-14

    This study aimed to investigate risk factors associated with breast cancer among Han Chinese women in northern and eastern China. A matched case-control study involving 1489 patients with breast cancer and 1489 controls was conducted across 21 hospitals in 11 provinces in China, from April 2012 to April 2013. We developed a structured questionnaire to record information from face-to-face interviews with participants. Student's t-tests, Pearson's chi-square tests, and univariate and multivariate conditional logistic regression analyses were used to identify variables with significant differences between the case and control groups. Ten variables were identified (P ratio, menopause, family history of breast cancer, present life satisfaction, sleep satisfaction, milk products, behavior prevention scores, and awareness of breast cancer. We identified a comprehensive range of factors related to breast cancer, among which several manageable factors may contribute to breast cancer prevention. Further prospective studies concerning psychological interventions, sleep regulation, health guidance, and physical exercise are required. A screening model for high-risk populations should be put on the agenda.

  5. Women with learning disabilities and access to cervical screening: retrospective cohort study using case control methods

    Science.gov (United States)

    Reynolds, Fiona; Stanistreet, Debbi; Elton, Peter

    2008-01-01

    Background Several studies in the UK have suggested that women with learning disabilities may be less likely to receive cervical screening tests and a previous local study in had found that GPs considered screening unnecessary for women with learning disabilities. This study set out to ascertain whether women with learning disabilities are more likely to be ceased from a cervical screening programme than women without; and to examine the reasons given for ceasing women with learning disabilities. It was carried out in Bury, Heywood-and-Middleton and Rochdale. Methods Carried out using retrospective cohort study methods, women with learning disabilities were identified by Read code; and their cervical screening records were compared with the Call-and-Recall records of women without learning disabilities in order to examine their screening histories. Analysis was carried out using case-control methods – 1:2 (women with learning disabilities: women without learning disabilities), calculating odds ratios. Results 267 women's records were compared with the records of 534 women without learning disabilities. Women with learning disabilities had an odds ratio (OR) of 0.48 (Confidence Interval (CI) 0.38 – 0.58; X2: 72.227; p.value learning disabilities. Conclusion The reasons given for ceasing and/or not screening suggest that merely being coded as having a learning disability is not the sole reason for these actions. There are training needs among smear takers regarding appropriate reasons not to screen and providing screening for women with learning disabilities. PMID:18218106

  6. Plasma carotenoids and the risk of premalignant breast disease in women aged 50 and younger: a nested case-control study.

    Science.gov (United States)

    Cohen, Kevin; Liu, Ying; Luo, Jingqin; Appleton, Catherine M; Colditz, Graham A

    2017-04-01

    To examine the association of plasma carotenoids, micronutrients in fruits, and vegetables, with risk of premalignant breast disease (PBD) in younger women. Blood samples were collected at the Siteman Cancer Center between 2008 and 2012 from 3537 women aged 50 or younger with no history of cancer or PBD. The analysis included 147 participants diagnosed with benign breast disease or breast carcinoma in situ during a 27-month follow-up and 293 controls. Cases and controls were matched on age, race/ethnicity, and date of and fasting status at blood draw. Plasma carotenoids were quantified. We used logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs) and linear regression to assess racial differences in plasma carotenoids. The risk reduction between the highest and lowest tertiles varied by carotenoid, with β-cryptoxanthin having the greatest reduction (OR 0.62; 95% CI, 0.62-1.09; P trend  = 0.056) and total carotenoids the least (OR 0.83; 95% CI, 0.48-1.44; P trend  = 0.12). We observed an inverse association between plasma carotenoids and risk of PBD in obese women (BMI ≥ 30 kg/m 2 ; 61 cases and 115 controls) but not lean women (BMI carotenoids and risk of PBD in younger women, consistent with inverse associations reported for invasive breast cancer. Carotenoids may play a role early in breast cancer development.

  7. Barriers, motivators and facilitators related to prenatal care utilization among inner-city women in Winnipeg, Canada: a case-control study.

    Science.gov (United States)

    Heaman, Maureen I; Moffatt, Michael; Elliott, Lawrence; Sword, Wendy; Helewa, Michael E; Morris, Heather; Gregory, Patricia; Tjaden, Lynda; Cook, Catherine

    2014-07-15

    The reasons why women do not obtain prenatal care even when it is available and accessible are complex. Despite Canada's universally funded health care system, use of prenatal care varies widely across neighborhoods in Winnipeg, Manitoba, with the highest rates of inadequate prenatal care found in eight inner-city neighborhoods. The purpose of this study was to identify barriers, motivators and facilitators related to use of prenatal care among women living in these inner-city neighborhoods. We conducted a case-control study with 202 cases (inadequate prenatal care) and 406 controls (adequate prenatal care), frequency matched 1:2 by neighborhood. Women were recruited during their postpartum hospital stay, and were interviewed using a structured questionnaire. Stratified analyses of barriers and motivators associated with inadequate prenatal care were conducted, and the Mantel-Haenszel common odds ratio (OR) was reported when the results were homogeneous across neighborhoods. Chi square analysis was used to test for differences in proportions of cases and controls reporting facilitators that would have helped them get more prenatal care. Of the 39 barriers assessed, 35 significantly increased the odds of inadequate prenatal care for inner-city women. Psychosocial issues that increased the likelihood of inadequate prenatal care included being under stress, having family problems, feeling depressed, "not thinking straight", and being worried that the baby would be apprehended by the child welfare agency. Structural barriers included not knowing where to get prenatal care, having a long wait to get an appointment, and having problems with child care or transportation. Attitudinal barriers included not planning or knowing about the pregnancy, thinking of having an abortion, and believing they did not need prenatal care. Of the 10 motivators assessed, four had a protective effect, such as the desire to learn how to protect one's health. Receiving incentives and getting

  8. Update on the effect of exogenous hormone use on glioma risk in women: a meta-analysis of case-control and cohort studies.

    Science.gov (United States)

    Lan, Yu-Long; Wang, Xun; Lou, Jia-Cheng; Ma, Bin-Bin; Xing, Jin-Shan; Zou, Shuang; Zhang, Bo

    2018-04-01

    Various studies have confirmed the important roles of endogenous hormones in the development of gliomas, while the roles of exogenous hormones remain controversial. Based on case-control studies and cohort studies, a meta-analysis was exerted to explore the effect of two exogenous hormones use (HRT: hormone replacement therapy; OC: oral contraceptives) on glioma risk. 16 eligible studies, including 11 case-control studies and 5 cohort studies, containing 8055027 women, were included in our study. All included studies have reported the relative risks (RRs) or odds ratios (ORs), and 95% confidence intervals (CIs). We use the fixed-effects model to calculate the estimated overall risk. In case-control studies, the risk of glioma was lower in women who had ever been treated with an exogenous hormone than in the control group (HRT: OR 0.91, 95% CI 0.84-0.99; OC: OR 0.99, 95% CI 0.91-1.07). In research of cohort studies, similar results have been obtained (HRT: RR 0.95, 95% CI 0.83-1.08; OC: RR 0.75, 95% CI 0.66-0.84). Our study further confirmed that the use of exogenous hormones has an important impact on the risk of glioma in women. However, more prospective studies are needed to further confirm this conclusion.

  9. Preimplantation genetic screening in older women: a cost-effectiveness analysis.

    Science.gov (United States)

    Mersereau, Jennifer E; Plunkett, Beth A; Cedars, Marcelle I

    2008-09-01

    To compare the strategy of traditional IVF with prenatal diagnosis versus IVF with preimplantation genetic screening (IVF/PGS) to prevent aneuploid births in women with advanced maternal age. A decision tree analytic model was created to compare IVF alone versus IVF/PGS to evaluate which strategy is the least costly per healthy (euploid) infant. Outpatient IVF practices. Infertile women, 38-40 and >40 years old. IVF or IVF/PGS. Cost per healthy infant. Using base-case estimates of costs and probabilities in women aged 38-40 years, after a maximum of two fresh IVF cycles and two frozen cycles, the chance of having a healthy infant was 37.8% with IVF alone versus 21.7% with IVF/PGS. The average cost for each strategy is $25,700, but the cost per healthy infant is substantially higher when IVF/PGS is applied as opposed to IVF alone ($118,713 vs. $68,026). To assess the robustness of the model, all probabilities were varied simultaneously in a Monte Carlo simulation, and in 96.2% of trials, IVF alone proved to be the most cost-effective option. Conversely, our data demonstrate that in women aged >40, IVF and IVF/PGS are essentially equal in terms of cost-effectiveness ($122,000 vs. $118,713). IVF alone is less costly per healthy infant than IVF/PGS in women ages 38-40.

  10. Serum Taurine and Stroke Risk in Women: A Prospective, Nested Case-Control Study

    Science.gov (United States)

    Wu, Fen; Koenig, Karen L.; Zeleniuch-Jacquotte, Anne; Jonas, Saran; Afanasyeva, Yelena; Wójcik, Oktawia P.; Costa, Max; Chen, Yu

    2016-01-01

    Background Taurine (2-aminoethanesulfonic acid), a conditionally essential sulfur-containing amino acid, is mainly obtained from diet in humans. Experimental studies have shown that taurine’s main biological actions include bile salt conjugation, blood pressure regulation, anti-oxidation, and anti-inflammation. Methods We conducted a prospective case-control study nested in the New York University Women’s Health Study, a cohort study involving 14,274 women enrolled since 1985. Taurine was measured in pre-diagnostic serum samples of 241 stroke cases and 479 matched controls. Results There was no statistically significant association between serum taurine and stroke risk in the overall study population. The adjusted ORs for stroke were 1.0 (reference), 0.87 (95% CI, 0.59–1.28), and 1.03 (95% CI, 0.69–1.54) in increasing tertiles of taurine (64.3–126.6, 126.7–152.9, and 153.0–308.5 nmol/mL, respectively). A significant inverse association between serum taurine and stroke risk was observed among never smokers, with an adjusted OR of 0.66 (95% CI, 0.37–1.18) and 0.50 (95% CI, 0.26–0.94) for the second and third tertile, respectively (p for trend = 0.01), but not among past or current smokers (p for interaction taurine and stroke risk, although a protective effect was observed in never smokers, which requires further investigation. Taurine, Stroke, Epidemiology, Prospective, Case-control study, NYUWHS. PMID:26866594

  11. Women with learning disabilities and access to cervical screening: retrospective cohort study using case control methods

    Directory of Open Access Journals (Sweden)

    Stanistreet Debbi

    2008-01-01

    Full Text Available Abstract Background Several studies in the UK have suggested that women with learning disabilities may be less likely to receive cervical screening tests and a previous local study in had found that GPs considered screening unnecessary for women with learning disabilities. This study set out to ascertain whether women with learning disabilities are more likely to be ceased from a cervical screening programme than women without; and to examine the reasons given for ceasing women with learning disabilities. It was carried out in Bury, Heywood-and-Middleton and Rochdale. Methods Carried out using retrospective cohort study methods, women with learning disabilities were identified by Read code; and their cervical screening records were compared with the Call-and-Recall records of women without learning disabilities in order to examine their screening histories. Analysis was carried out using case-control methods – 1:2 (women with learning disabilities: women without learning disabilities, calculating odds ratios. Results 267 women's records were compared with the records of 534 women without learning disabilities. Women with learning disabilities had an odds ratio (OR of 0.48 (Confidence Interval (CI 0.38 – 0.58; X2: 72.227; p.value X2: 24.236; p.value X2: 286.341; p.value Conclusion The reasons given for ceasing and/or not screening suggest that merely being coded as having a learning disability is not the sole reason for these actions. There are training needs among smear takers regarding appropriate reasons not to screen and providing screening for women with learning disabilities.

  12. Association of Oxidative Stress Biomarkers with Gestational Diabetes Mellitus in Pregnant Women: A Case-Control Study

    Science.gov (United States)

    Zhu, Chunyan; Yang, Hongling; Geng, Qingshan; Ma, Qingling; Long, Yan; Zhou, Cheng; Chen, Ming

    2015-01-01

    Objective The relationship between gestational diabetes mellitus (GDM) and oxidative stress has not been fully elucidated. This study examined the association between biomarkers of oxidative stress and GDM. Methods We conducted a case-control study which included 36 women presenting with GDM and 36 asymptomatic matched control subjects who visited Guangzhou Women and Children’s Medical Centre, China, from June 2012 to December 2012. Pregnant women were prospectively recruited to the study, and blood samples were collected at the time of a routine oral glucose tolerance test. These samples were then analyzed for levels of endocrine and surrogate markers of oxidative stress. Results Compared to control subjects, women with GDM exhibited elevated values for plasma glucose, insulin, and insulin resistance (IR), and showed reduced HOMA pancreatic β-cell function (HOMA-B), insulin sensitivity index (ISI), insulinogenic index, and corrected insulin response at 24–28 weeks gestation. A bivariate logistic regression analysis showed that levels of high-sensitivity C reactive protein (hs-CRP) and high fluorescence reticulocytes at fasting, and hs-CRP in a 1-h OGTT, were significantly associated with GDM. A linear regression analysis showed that levels of hs-CRP (P = 0.003) and reticulocytes (P = 0.029) at fasting were associated with IR, and levels of hs-CRP (P = 0.002) and monocytes (P = 0.006) in a 1-h OGTT were associated with ISI. Conclusions Pregnant women with GDM developed a pathological IR and exhibited β-cell dysfunction. Their decreased ability to compensate for oxidative stress was associated with increased IR and a reduced ISI, which might be important factors in GDM. PMID:25915047

  13. Risk factors for inguinal hernia in women: a case-control study. The Coala Trial Group.

    Science.gov (United States)

    Liem, M S; van der Graaf, Y; Zwart, R C; Geurts, I; van Vroonhoven, T J

    1997-11-01

    Potential risk factors for inguinal hernia in women were investigated and the relative importance of these factors was quantified. In women, symptomatic but nonpalpable hernias often remain undiagnosed. However, knowledge on this subject only concerns hernia and operation characteristics, which have been obtained by review of case series. Virtually nothing is known about risk factors for inguinal hernia. The authors performed a hospital-based case-control study of 89 female patients with an incident inguinal hernia and 176 age-matched female controls. Activity since birth with two validated questionnaires was measured and smoking habits, medical and operation history, Quetelet index (kg/m2), and history of pregnancies and deliveries were recorded. Response for cases was 81% and for controls 73%. Total physical activity was not associated with inguinal hernia (univariate odds ratio (OR) = 0.8, 95% confidence interval (CI) 0.6-1.1), but high present sports activities was associated with less inguinal hernia (multivariate OR = 0.2, 95% CI 0.1-0.7). Obesity (Quetelet index > 30) was also protective for inguinal hernia (OR = 0.2, 95% CI 0.04-1.0). Independent risk factors were positive family history (OR = 4.3, 95% CI 1.9-9.7) and obstipation (OR = 2.5, 95% CI 1.0-6.7). In particular, smoking, appendectomy, other abdominal operations, and multiple deliveries were not associated with inguinal hernia in females. The protective effect of present sports activity may be explained by optimizing the resistance of the abdominal musculature protecting the relatively small inguinal weak spot in the female. The individual predisposition for inguinal hernia may be quantified by these risk factors, and, with this in mind, the authors advise that further evaluation might be needed for the patient with unexplained inguinal pain.

  14. The Relation of Diabetes Type 2 with Sexual Function among Reproductive Age Women in Iran, a Case-Control Study

    Directory of Open Access Journals (Sweden)

    Poorandokht Afshari

    2017-01-01

    Full Text Available Background. Diabetic patients are at the greater risk of retinopathy, nephropathy, neuropathy, and sexual dysfunction compared to the general population. Objective. The aim of this study was to evaluate the sexual dysfunction in type 2 diabetes reproductive age women in Iran. Method. This was a case-control study carried out on 130 women with type 2 diabetes and 130 healthy women. The type 2 diabetes diagnosis was confirmed with abnormal fasting blood sugar, abnormal random blood sugar test, and abnormal level of HbA1C. Eligible women were requested to complete a demographic questionnaire and female sexual function index (FSFI. The chi-square test, independent t-test, and Multivariate Analysis of Covariance (MANCOVA were used for analyzing data. Results. Results of this study showed that diabetic women had significantly lower sexual desire, arousal, lubrication, and orgasm and more pain compared to the healthy women (p<0.05. Also diabetic women had lower sexual satisfaction compared to the healthy women (p=0.002. The total score of sexual function was significantly lower in the diabetic women compared to the healthy women (21.25±7.04 versus 22.43±7.6, p=0.004. Conclusion. Results of this study showed that the score of all dimensions of sexual function in diabetic patients was lower than that in healthy women. Education and counseling about controlling diabetes and sexual function among diabetic women in reproductive age are recommended.

  15. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

    OpenAIRE

    Johnson, N. (Nichola); Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael; Schoemaker, Minouk; Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); Hopper, John; Southey, Melissa; Dite, G.S. (Gillian S.); Apicella, C. (Carmel); Schmidt, Marjanka; Broeks, Annegien; Veer, Laura

    2014-01-01

    textabstractINTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breas...

  16. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

    OpenAIRE

    Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael; Schoemaker, Minouk; Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); Hopper, John; Southey, Melissa; Dite, Gillian; Apicella, Carmel; Schmidt, Marjanka; Broeks, Annegien; Veer, Laura

    2014-01-01

    textabstractIntroduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Brea...

  17. Effects of interleukin-1 receptor antagonist (IL-1Ra) gene 86 bp VNTR polymorphism on recurrent pregnancy loss: a case-control study.

    Science.gov (United States)

    Hajizadeh, Yasamin Sayed; Emami, Elina; Nottagh, Marina; Amini, Zahra; Maroufi, Nazila Fathi; Azimian, Saba Haj; Isazadeh, Alireza

    2017-05-26

    Objective Recurrent pregnancy loss (RPL) is a heterogeneous disease which is defined as two or more consecutive fetal losses during early pregnancy. Interleukin-1 receptor antagonist (IL-1Ra) is a anti-inflammatory cytokine, which inhibits IL-1 activity by binding to its receptors. The aim of this study was to investigate the association between RPL and IL-1Ra intron 2 polymorphism (86 bp VNTR) in Iranian women. Materials and methods In this case control study, genetic polymorphism was studied in 140 RPL patients and 140 healthy women as controls. Genomic DNA was extracted from the blood samples and polymorphism analysis was performed using the polymerase chain reaction (PCR) method. Finally, the data obtained were analyzed by statistical software. Results We found an increased frequency of the IL-1Ra 1/1 genotype in the case group compared to the control group. Whereas, the frequency of IL-1Ra genotype 1/2 was higher in control group than in the case group. However, we did not observe an association between IL-1Ra 86 bp VNTR polymorphism in intron 2 and RPL patients (p > 0.05). Conclusion IL-1Ra VNTR polymorphism may not be a genetic factor for RPL. However, investigation of IL-1Ra polymorphism was recommended in other populations and patients with recurrent pregnancy loss.

  18. Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study

    International Nuclear Information System (INIS)

    Wedrén, Sara; Stiger, Fredrik; Persson, Ingemar; Baron, John; Weiderpass, Elisabete; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia; Melhus, Håkan; Syvänen, Ann-Christine; Kindmark, Andreas; Landegren, Ulf; Fermér, Maria Lagerström

    2004-01-01

    Oestrogen receptor α, which mediates the effect of oestrogen in target tissues, is genetically polymorphic. Because breast cancer development is dependent on oestrogenic influence, we have investigated whether polymorphisms in the oestrogen receptor α gene (ESR1) are associated with breast cancer risk. We genotyped breast cancer cases and age-matched population controls for one microsatellite marker and four single-nucleotide polymorphisms (SNPs) in ESR1. The numbers of genotyped cases and controls for each marker were as follows: TA n , 1514 cases and 1514 controls; c.454-397C → T, 1557 cases and 1512 controls; c.454-351A → G, 1556 cases and 1512 controls; c.729C → T, 1562 cases and 1513 controls; c.975C → G, 1562 cases and 1513 controls. Using logistic regression models, we calculated odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype effects were estimated in an exploratory analysis, using expectation-maximisation algorithms for case-control study data. There were no compelling associations between single polymorphic loci and breast cancer risk. In haplotype analyses, a common haplotype of the c.454-351A → G or c.454-397C → T and c.975C → G SNPs appeared to be associated with an increased risk for ductal breast cancer: one copy of the c.454-351A → G and c.975C → G haplotype entailed an OR of 1.19 (95% CI 1.06–1.33) and two copies with an OR of 1.42 (95% CI 1.15–1.77), compared with no copies, under a model of multiplicative penetrance. The association with the c.454-397C → T and c.975C → G haplotypes was similar. Our data indicated that these haplotypes were more influential in women with a high body mass index. Adjustment for multiple comparisons rendered the associations statistically non-significant. We found suggestions of an association between common haplotypes in ESR1 and the risk for ductal breast cancer that is stronger in heavy women

  19. Helicobacter pylori infection in women with Hashimoto thyroiditis: A case-control study.

    Science.gov (United States)

    Shmuely, Haim; Shimon, Ilan; Gitter, Limor Azulay

    2016-07-01

    An association between Helicobacter pylori (H pylori) infection as environmental risk factors for Hashimoto thyroiditis (HT) has been reported. We investigated this hypothesis in women in which HT is more common. Serum immunoglobulin G antibodies against H pylori (enzyme-linked immunosorbent assay), CagA protein (Western blot assay), circulating antibodies to thyroid antigens, mainly thyroperoxidase (TPOAbs) and thyroglobulin (TgAbs), were tested in 101 females with HT and 111 non-HT control women without a history of autoimmune disease. Thyroid function, socioeconomic status at childhood, and family history of thyroid malfunction were also studied. Forty-seven HT women (46.5%) tested seropositive for H pylori versus 48 controls (43.2%; P = 0.63). The prevalence of anti-CagA antibodies was 21.3% in HT-infected patients and 31.2% in infected controls (P = 0.352). Women with HT were older than the controls at a significance level of 0.03, and higher prevalence of hypothyroidism (69% vs 13.5%, respectively) and family history of thyroid malfunction (59% vs 34%, respectively) (P thyroid malfunction was independently associated with an increased risk of HT (odds ratio 3.39, 95% confidence interval 1.86-6.18, P thyroid malfunction is a risk factor for HT.

  20. The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer.

    Science.gov (United States)

    Watson, M; Lloyd, S; Davidson, J; Meyer, L; Eeles, R; Ebbs, S; Murday, V

    1999-02-01

    The present study investigated: (1) perception of genetic risk and, (2) the psychological effects of genetic counselling in women with a family history of breast cancer. Using a prospective design, with assessment pre- and post-genetic counselling at clinics and by postal follow-up at 1, 6 and 12 months, attenders at four South London genetic clinics were assessed. Participants included 282 women with a family history of breast cancer. Outcome was measured in terms of mental health, cancer-specific distress and risk perception. High levels of cancer-specific distress were found pre-genetic counselling, with 28% of participants reporting that they worried about breast cancer 'frequently or constantly' and 18% that worry about breast cancer was 'a severe or definite problem'. Following genetic counselling, levels of cancer-specific distress were unchanged. General mental health remained unchanged over time (33% psychiatric cases detected pre-genetic counselling, 27% at 12 months after genetic counselling). Prior to their genetics consultation, participants showed poor knowledge of their lifetime risk of breast cancer since there was no association between their perceived lifetime risk (when they were asked to express this as a 1 in x odds ratio) and their actual risk, when the latter was calculated by the geneticist at the clinic using the CASH model. In contrast, women were more accurate about their risk of breast cancer pre-genetic counselling when this was assessed in broad categorical terms (i.e. very much lower/very much higher than the average woman) with a significant association between this rating and the subsequently calculated CASH risk figure (P = 0.001). Genetic counselling produced a modest shift in the accuracy of perceived lifetime risk, expressed as an odds ratio, which was maintained at 12 months' follow-up. A significant minority failed to benefit from genetic counselling; 77 women continued to over-estimate their risk and maintain high levels of

  1. Melanoma risk prediction using a multilocus genetic risk score in the Women's Health Initiative cohort.

    Science.gov (United States)

    Cho, Hyunje G; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Assimes, Themistocles; Han, Jiali; Stefanick, Marcia; Tang, Jean Y; Sarin, Kavita Y

    2018-07-01

    Single-nucleotide polymorphisms (SNPs) associated with melanoma have been identified though genome-wide association studies. However, the combined impact of these SNPs on melanoma development remains unclear, particularly in postmenopausal women who carry a lower melanoma risk. We examine the contribution of a combined polygenic risk score on melanoma development in postmenopausal women. Genetic risk scores were calculated using 21 genome-wide association study-significant SNPs. Their combined effect on melanoma development was evaluated in 19,102 postmenopausal white women in the clinical trial and observational study arms of the Women's Health Initiative dataset. Compared to the tertile of weighted genetic risk score with the lowest genetic risk, the women in the tertile with the highest genetic risk were 1.9 times more likely to develop melanoma (95% confidence interval 1.50-2.42). The incremental change in c-index from adding genetic risk scores to age were 0.075 (95% confidence interval 0.041-0.109) for incident melanoma. Limitations include a lack of information on nevi count, Fitzpatrick skin type, family history of melanoma, and potential reporting and selection bias in the Women's Health Initiative cohort. Higher genetic risk is associated with increased melanoma prevalence and incidence in postmenopausal women, but current genetic information may have a limited role in risk prediction when phenotypic information is available. Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  2. Immuno-related polymorphisms and cervical cancer risk: The IARC multicentric case-control study.

    Directory of Open Access Journals (Sweden)

    James McKay

    Full Text Available A small proportion of women who are exposed to infection with human-papillomavirus (HPV develop cervical cancer (CC. Genetic factors may affect the risk of progression from HPV infection to cervical precancer and cancer. We used samples from the International Agency for Research on Cancer (IARC multicentric case-control study to evaluate the association of selected genetic variants with CC. Overall, 790 CC cases and 717 controls from Algeria, Morocco, India and Thailand were included. Cervical exfoliated cells were obtained from control women and cervical exfoliated cells or biopsy specimens from cases. HPV-positivity was determined using a general primer GP5+/6+ mediated PCR. Unconditional logistic regression was used to estimate odds ratios (OR and corresponding 95% confidence intervals (CI of host genotypes with CC risk, using the homozygous wild type genotype as the referent category and adjusting by age and study centre. The association of polymorphisms with the risk of high-risk HPV-positivity among controls was also evaluated. A statistically significant association was observed between single nucleotide polymorphism (SNP CHR6 rs2844511 and CC risk: the OR for carriers of the GA or GG genotypes was 0.70 (95% CI: 0.43-1.14 and 0.61 (95% CI: 0.38-0.98, respectively, relative to carriers of AA genotype (p-value for trend 0.03. We also observed associations of borderline significance with the TIPARP rs2665390 polymorphism, which was previously found to be associated with ovarian and breast cancer, and with the EXOC1 rs13117307 polymorphism, which has been linked to cervical cancer in a large study in a Chinese population. We confirmed the association between CC and the rs2844511 polymorphism previously identified in a GWAS study in a Swedish population. The major histocompatibility region of chromosome 6, or perhaps other SNPs in linkage disequilibrium, may be involved in CC onset.

  3. Genetic variants in DNA double-strand break repair genes and risk of salivary gland carcinoma: a case-control study.

    Directory of Open Access Journals (Sweden)

    Li Xu

    Full Text Available DNA double strand break (DSB repair is the primary defense mechanism against ionizing radiation-induced DNA damage. Ionizing radiation is the only established risk factor for salivary gland carcinoma (SGC. We hypothesized that genetic variants in DSB repair genes contribute to individual variation in susceptibility to SGC. To test this hypothesis, we conducted a case-control study in which we analyzed 415 single nucleotide polymorphisms (SNPs in 45 DSB repair genes in 352 SGC cases and 598 controls. Multivariate logistic regression analysis was performed to calculate odds ratios (ORs and 95% confidence intervals (CIs. Rs3748522 in RAD52 and rs13180356 in XRCC4 were significantly associated with SGC after Bonferroni adjustment; ORs (95% CIs for the variant alleles of these SNPs were 1.71 (1.40-2.09, P = 1.70 × 10(-7 and 0.58 (0.45-0.74, P = 2.00 × 10(-5 respectively. The genetic effects were modulated by histological subtype. The association of RAD52-rs3748522 with SGC was strongest for mucoepidermoid carcinoma (OR = 2.21, 95% CI: 1.55-3.15, P = 1.25 × 10(-5, n = 74, and the association of XRCC4-rs13180356 with SGC was strongest for adenoid cystic carcinoma (OR = 0.60, 95% CI: 0.42-0.87, P = 6.91 × 10(-3, n = 123. Gene-level association analysis revealed one gene, PRKDC, with a marginally significant association with SGC risk in non-Hispanic whites. To our knowledge, this study is the first to comprehensively evaluate the genetic effect of DSB repair genes on SGC risk. Our results indicate that genetic variants in the DSB repair pathways contribute to inter-individual differences in susceptibility to SGC and show that the impact of genetic variants differs by histological subtype. Independent studies are warranted to confirm these findings.

  4. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...

  5. Risk perception among women receiving genetic counseling: a population-based follow-up study

    DEFF Research Database (Denmark)

    Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer

    2007-01-01

    -up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II). RESULTS: Women who received genetic counseling decreased...... counseling, compared to a reduction of 5% (p=0.03) and 2% (p=0.01) in Reference Groups I and II, respectively. Risk communicated only in words, inaccurate risk perception at baseline, and presence of a familial mutation appeared to be predictors of inaccurate risk perception 12 months after counseling......BACKGROUND: We aimed to explore the impact of genetic counseling on perceived personal lifetime risk of breast cancer, the accuracy of risk perception, and possible predictors of inaccurate risk perception 1 year following counseling. METHODS: We conducted a population-based prospective follow...

  6. Relationship satisfaction in women: a longitudinal case-control study about the role of breast cancer, personal assertiveness, and partners' relationship-focused coping.

    Science.gov (United States)

    Hinnen, Chris; Hagedoorn, Mariët; Ranchor, Adelita V; Sanderman, Robbert

    2008-11-01

    The aim of this study was to investigate whether a breast cancer diagnosis, personal assertiveness (i.e. frequency of assertive behaviour and tension associated with this behaviour), and partners' relationship-focused coping (i.e. active engagement and protective buffering) were sources of variation in patients' relationship satisfaction, cross-sectionally and over time. This longitudinal case-control study assessed the two dimensions of personal assertiveness and relationship satisfaction in both women with cancer (N=72) and comparison controls (N=62). In addition, patients completed a measure assessing their partners' active engagement and protective buffering. Cases (i.e. women with breast cancer) were not found to report more relationship problems than controls. Women with breast cancer who tended not to express their concerns and feelings and who experienced much tension when they did, reported relatively low marital satisfaction. Moreover, partners' protective buffering was associated with less relationship satisfaction in especially more assertive (i.e. high frequency of assertive behaviour and low tension) women with cancer, while active engagement was associated with more relationship satisfaction, regardless of the women's personal assertiveness. The results of the present study indicate that a breast cancer diagnosis by itself may not be a risk factor for relationship problems. However, in the context of an illness such as cancer, personal assertiveness, and a partner's relationship-focused coping strategies do seem to play a role in maintaining a satisfactory relationship with one's partner.

  7. Genetic and environmental risk factors for rheumatoid arthritis in a UK African ancestry population: the GENRA case-control study.

    Science.gov (United States)

    Traylor, Matthew; Curtis, Charles; Patel, Hamel; Breen, Gerome; Hyuck Lee, Sang; Xu, Xiaohui; Newhouse, Stephen; Dobson, Richard; Steer, Sophia; Cope, Andrew P; Markus, Hugh S; Lewis, Cathryn M; Scott, Ian C

    2017-08-01

    To evaluate whether genetic and environmental factors associated with RA in European and Asian ancestry populations are also associated with RA in African ancestry individuals. A case-control study was undertaken in 197 RA cases and 868 controls of African ancestry (Black African, Black Caribbean or Black British ethnicity) from South London. Smoking and alcohol consumption data at RA diagnosis was captured. Genotyping was undertaken (Multi-Ethnic Genotyping Array) and human leukocyte antigen (HLA) alleles imputed. The following European/Asian RA susceptibility factors were tested: 99 genome-wide loci combined into a genetic risk score; HLA region [20 haplotypes; shared epitope (SE)]; smoking; and alcohol consumption. The SE was tested for its association with radiological erosions. Logistic regression models were used, including ancestry-informative principal components, to control for admixture. European/Asian susceptibility loci were associated with RA in African ancestry individuals. The genetic risk score provided an odds ratio (OR) for RA of 1.53 (95% CI: 1.31, 1.79; P = 1.3 × 10 - 7 ). HLA haplotype ORs in European and African ancestry individuals were highly correlated ( r = 0.83, 95% CI: 0.56, 0.94; P = 1.1 × 10 - 4 ). Ever-smoking increased (OR = 2.36, 95% CI: 1.46, 3.82; P = 4.6 × 10 - 4 ) and drinking alcohol reduced (OR = 0.34, 95% CI: 0.20, 0.56; P = 2.7 × 10 - 5 ) RA risk in African ancestry individuals. The SE was associated with erosions (OR = 2.61, 95% CI: 1.36, 5.01; P = 3.9 × 10 - 3 ). Gene-environment RA risk factors identified in European/Asian ancestry populations are relevant in African ancestry individuals. As modern statistical methods facilitate analysing ancestrally diverse populations, future genetic studies should incorporate African ancestry individuals to ensure their implications for precision medicine are universally applicable. © The Author 2017. Published by Oxford University Press on behalf of the British Society for

  8. Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study.

    Science.gov (United States)

    Velásquez Pereira, Leydi Carolina; Vargas Castellanos, Clara Inés; Silva Sieger, Federico Arturo

    2016-12-30

    To analyze if there is an association between the presence of polymorphisms in the LPL gene (rs320, rs285 and rs328) with development of acute ischemic stroke in Colombian population. In a case control design, 133 acute ischemic stroke patients (clinical diagnosis and x-ray CT) and 269 subjects without stroke as controls were studied. PCR -RFLP technique was used to detect rs320, rs285 and rs328 polymorphisms in the LPL gene. In the present research was not found any association between any of the LPL gene polymorphism and acute ischemic stroke in the population studied; the allele and genotypic frequencies of the studied polymorphisms were similar in cases and controls and followed the Hardy-Weinberg equilibrium. The study was approved by the IRB and each subject signed the informed consent. LPL gene polymorphisms are not genetic markers for the development of stroke in the Colombian sample used.

  9. Hospital visitors as controls in case-control studies

    Directory of Open Access Journals (Sweden)

    Gulnar Azevedo S Mendonça

    2001-10-01

    Full Text Available OBJECTIVE: Selecting controls is one of the most difficult tasks in the design of case-control studies. Hospital controls may be inadequate and random controls drawn from the base population may be unavailable. The aim was to assess the use of hospital visitors as controls in a case-control study on the association of organochlorinated compounds and other risk factors for breast cancer conducted in the main hospital of the "Instituto Nacional de Câncer" -- INCA (National Cancer Institute in Rio de Janeiro (Brazil. METHODS: The study included 177 incident cases and 377 controls recruited among female visitors. Three different models of control group composition were compared: Model 1, with all selected visitors; Model 2, excluding women visiting relatives with breast cancer; and Model 3, excluding all women visiting relatives with any type of cancer. Odds ratios (OR and 95% confidence intervals were calculated to test the associations. RESULTS: Age-adjusted OR for breast cancer associated with risk factors other than family history of cancer, except smoking and breast size, were similar in the three models. Regarding family history of all cancers, except for breast cancer, there was a decreased risk in Models 1 and 2, while in Model 3 there was an increased risk, but not statistically significant. Family history of breast cancer was a risk factor in Models 2 and 3, but no association was found in Model 1. In multivariate analysis a significant risk of breast cancer was found when there was a family history of breast cancer in Models 2 and 3 but not in Model 1. CONCLUSIONS: These results indicate that while investigating risk factors unrelated to family history of cancer, the use of hospital visitors as controls may be a valid and feasible alternative.

  10. Factors associated with late ANC initiation among pregnant women in select public health centers of Addis Ababa, Ethiopia: unmatched case-control study design.

    Science.gov (United States)

    Gebrekidan, Kahasse; Worku, Alemayehu

    2017-01-01

    Although Ethiopia has shown remarkable achievements in reducing maternal mortality in the last 10 years, the prevalence of late antenatal care (ANC) initiation is still high in the country. The primary purpose of this study was to identify the factors related to late ANC initiation among pregnant women in selected public health centers in Addis Ababa, Ethiopia. A total of 402 pregnant women (cases=134, controls=268) were recruited using multistage sampling. The design selected for the study was unmatched case-control. EpiData version 3.02 and SPSS version 20.0 were used for data entry and statistical analysis, respectively. Binary logistic regression model was used to model the odds of late ANC initiation. The odds of attending ANC late were significantly higher for mothers with a monthly household income of $8.50 to start the ANC service (AOR=3.04; 95% CI: 1.98, 4.67). Low educational level, low income of the household, unplanned pregnancy, stay for ANC service were the main predictors of late ANC initiation. Therefore, any intervention which would need to improve early ANC initiation should focus on economic empowerment of women, and tailored health education for migrant women should be strengthened.

  11. Case-control study of intracranial meningiomas in women in Los Angeles County, California

    International Nuclear Information System (INIS)

    Preston-Martin, S.; Paganini-Hill, A.; Henderson, B.E.; Pike, M.C.; Wood, C.

    1980-01-01

    A case-control study was conducted among women in Los Angeles County to investigate possible causes of intracranial meningiomas. Questionnaires sought information from patients and from a neighbor of each one on characteristics and past experiences that might be associated with the development of this disease. Information was obtained on 188 matched patient-neighbor pairs. Three primary factors appeared to be associated with meningioma occurrence: 1) a history of head trauma (odds ratio = 2.0, p = 0.01), 2) consumption of certain cured meats (odds ratio = 2.8, p = less than 0.01), and 3) exposure to medical and dental diagnostic X-rays to the head. For diagnostic X-rays, the strongest association was with early exposure (less than 20 yr old) to full-mouth dental X-ray series

  12. A functional genetic variant in fragile-site gene FATS modulates the risk of breast cancer in triparous women

    International Nuclear Information System (INIS)

    Song, Fangfang; Zhang, Jun; Qiu, Li; Zhao, Yawen; Xing, Pan; Lu, Jiachun; Chen, Kexin; Li, Zheng

    2015-01-01

    The fragile-site associated tumor suppressor (FATS, formerly known as C10orf90), a regulator of p53-p21 pathway has been involved in the onset of breast cancer. Recent data support the idea that the crosstalk between FATS and p53 may be of physiological importance for reproduction during evolution. The aim of the current study was to test the hypothesis that FATS genetic polymorphism can influence the risk of breast cancer. We conducted population-based studies in two independent cohorts comprising 1 532 cases and 1 573 controls in Tianjin of North China, and 804 cases and 835 controls in Guangzhou of South China, coupled with functional validation methods, to investigate the role of FATS genetic variant in breast cancer risk. We identified a functional variant rs11245007 (905C > T, 262D/N) in fragile-site gene FATS that modulates p53 activation. FATS-262 N exhibited stronger E3 activity to polyubiquitinate p53 than did FATS-262D, leading to the stronger transcriptional activity of p53 and more pronounced stabilization of p53 protein and its activation in response to DNA damage. Case–control studies found that CT or TT genotype was significantly associated with a protective effect on breast cancer risk in women with parity ≥ 3, which was not affected by family history. Our findings suggest the role of FATS-p53 signaling cascade in suppressing pregnancy-related carcinogenesis and potential application of FATS genotyping in breast cancer prevention. The online version of this article (doi:10.1186/s12885-015-1570-9) contains supplementary material, which is available to authorized users

  13. Predictors of breast cancer among women in a northern state of Malaysia: a matched case-control study.

    Science.gov (United States)

    Matalqah, Laila; Radaideh, Khaldoon; Yusoff, Zuraidah Mohd; Awaisu, Ahmed

    2011-01-01

    Breast cancer has been increased in South East Asia countries, but there are limited data for breast cancer risk factors in these countries. To clarify the risk for breast cancer among the Malaysian women, a matched case-control study was conducted. Between October 2009 and April 2010, a survey was prospectively conducted among women admitted to clinics of Penang General Hospital for examination and/or treatment by using a questionnaire. Therefore, characteristics of patients diagnosed with breast cancer (n=150) were compared with control cases (n=150) admitted to hospital for non-neoplastic, non-hormone related diseases. Family history of a distant relative with breast cancer (OR=2.84), history of first-degree relatives with breast cancer (OR=2.95), history of benign breast disease (OR=2.43), menstrual irregularity (OR=4.24), and use of oral contraceptive pills (OCP) (OR=2.15) were found to be significant risk factors for breast cancer in our population. Furthermore, education more than 11 years (OR=0.40), breastfeeding (OR=0.50), being employed (OR=0.45) and practicing low fat diet (OR=0.53) were strongly protective against breast cancer development. The results emphasize the importance of conducting a series of awareness campaigns that highlights the protective role of longer breastfeeding period against breast cancer and the negative relationships between OCP use and high fat diet with this disease.

  14. Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.

    Directory of Open Access Journals (Sweden)

    Jirong Long

    2010-06-01

    Full Text Available Genetic factors play an important role in the etiology of breast cancer. We carried out a multi-stage genome-wide association (GWA study in over 28,000 cases and controls recruited from 12 studies conducted in Asian and European American women to identify genetic susceptibility loci for breast cancer. After analyzing 684,457 SNPs in 2,073 cases and 2,084 controls in Chinese women, we evaluated 53 SNPs for fast-track replication in an independent set of 4,425 cases and 1,915 controls of Chinese origin. Four replicated SNPs were further investigated in an independent set of 6,173 cases and 6,340 controls from seven other studies conducted in Asian women. SNP rs4784227 was consistently associated with breast cancer risk across all studies with adjusted odds ratios (95% confidence intervals of 1.25 (1.20-1.31 per allele (P = 3.2 x 10(-25 in the pooled analysis of samples from all Asian samples. This SNP was also associated with breast cancer risk among European Americans (per allele OR = 1.19, 95% CI = 1.09-1.31, P = 1.3 x 10(-4, 2,797 cases and 2,662 controls. SNP rs4784227 is located at 16q12.1, a region identified previously for breast cancer risk among Europeans. The association of this SNP with breast cancer risk remained highly statistically significant in Asians after adjusting for previously-reported SNPs in this region. In vitro experiments using both luciferase reporter and electrophoretic mobility shift assays demonstrated functional significance of this SNP. These results provide strong evidence implicating rs4784227 as a functional causal variant for breast cancer in the locus 16q12.1 and demonstrate the utility of conducting genetic association studies in populations with different genetic architectures.

  15. A case-control study of the association between urinary cadmium concentration and endometriosis in infertile Japanese women

    International Nuclear Information System (INIS)

    Itoh, Hiroaki; Iwasaki, Motoki; Nakajima, Yoshiaki; Endo, Yoko; Hanaoka, Tomoyuki; Sasaki, Hiroshi; Tanaka, Tadao; Yang, Bin; Tsugane, Shoichiro

    2008-01-01

    Cadmium may act like an estrogen and be a potential risk factor for estrogen-related diseases such as breast cancer and endometriosis. Here, we tested the hypothesis that higher cadmium exposure is associated with endometriosis among infertile Japanese women in a hospital-based case-control study. We recruited consecutive female patients aged 20-45 years who had complained of infertility and presented to a university hospital in Tokyo. The subjects were interviewed and provided a urine sample prior to a laparoscopic diagnosis of endometriosis between January 2000 and December 2001. The severity of endometriosis was then dichotomized into controls (stage 0 and I) and cases (stage II-IV). We finally measured urinary total cadmium concentration in 54 cases and 74 controls as a biomarker of long-term cumulative exposure. Odds ratios were adjusted for average menstrual cycle length, body-mass index and smoking status using unconditional logistic regression. Results showed no association between endometriosis and urinary cadmium concentration. Medians (interquartile ranges) of urinary cadmium concentration in cases and controls were 0.53 (0.40-0.73) and 0.54 (0.34-0.76) μg/g creatinine, respectively (P for difference = 0.88). Adjusted odds ratio (95% confidence interval) for the highest versus lowest tertile of urinary creatinine-adjusted cadmium concentration was 0.86 (0.30 to 2.49, P for trend = 0.79). Our results do not support the hypothesis that higher urinary cadmium concentration is associated with the risk of endometriosis

  16. A case-control study of the association between urinary cadmium concentration and endometriosis in infertile Japanese women

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Hiroaki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan); Iwasaki, Motoki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan)], E-mail: moiwasak@gan2.res.ncc.go.jp; Nakajima, Yoshiaki; Endo, Yoko [Research Center for Occupational Poisoning, Tokyo Rosai Hospital, Japan Labour Health and Welfare Organization, 4-13-21 Omoriminami, Ohta-ku, Tokyo 143-0013 (Japan); Hanaoka, Tomoyuki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan); Sasaki, Hiroshi; Tanaka, Tadao; Yang, Bin [Department of Obstetrics and Gynecology, Jikei University School of Medicine 3-25-8, Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461 (Japan); Tsugane, Shoichiro [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan)

    2008-09-01

    Cadmium may act like an estrogen and be a potential risk factor for estrogen-related diseases such as breast cancer and endometriosis. Here, we tested the hypothesis that higher cadmium exposure is associated with endometriosis among infertile Japanese women in a hospital-based case-control study. We recruited consecutive female patients aged 20-45 years who had complained of infertility and presented to a university hospital in Tokyo. The subjects were interviewed and provided a urine sample prior to a laparoscopic diagnosis of endometriosis between January 2000 and December 2001. The severity of endometriosis was then dichotomized into controls (stage 0 and I) and cases (stage II-IV). We finally measured urinary total cadmium concentration in 54 cases and 74 controls as a biomarker of long-term cumulative exposure. Odds ratios were adjusted for average menstrual cycle length, body-mass index and smoking status using unconditional logistic regression. Results showed no association between endometriosis and urinary cadmium concentration. Medians (interquartile ranges) of urinary cadmium concentration in cases and controls were 0.53 (0.40-0.73) and 0.54 (0.34-0.76) {mu}g/g creatinine, respectively (P for difference = 0.88). Adjusted odds ratio (95% confidence interval) for the highest versus lowest tertile of urinary creatinine-adjusted cadmium concentration was 0.86 (0.30 to 2.49, P for trend = 0.79). Our results do not support the hypothesis that higher urinary cadmium concentration is associated with the risk of endometriosis.

  17. Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.

    Science.gov (United States)

    Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia

    2016-10-01

    To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.

  18. Investigation of established genetic risk variants for glioma in prediagnostic samples from a population-based nested case-control study.

    Science.gov (United States)

    Wibom, Carl; Späth, Florentin; Dahlin, Anna M; Langseth, Hilde; Hovig, Eivind; Rajaraman, Preetha; Johannesen, Tom Børge; Andersson, Ulrika; Melin, Beatrice

    2015-05-01

    Although glioma etiology is poorly understood in general, growing evidence indicates a genetic component. Four large genome-wide association studies (GWAS) have linked common genetic variants with an increased glioma risk. However, to date, these studies are based largely on a case-control design, where cases have been recruited at the time of or after diagnosis. They may therefore suffer from a degree of survival bias, introduced when rapidly fatal cases are not included. To confirm glioma risk variants in a prospective setting, we have analyzed 11 previously identified risk variants in a set of prediagnostic serum samples with 598 cases and 595 matched controls. Serum samples were acquired from The Janus Serum Bank, a Norwegian population-based biobank reserved for cancer research. We confirmed the association with glioma risk for variants within five genomic regions: 8q24.21 (CCDC26), 9p21.3 (CDKN2B-AS1), 11q23.3 (PHLDB1), 17p13.1 (TP53), and 20q13.33 (RTEL1). However, previously identified risk variants within the 7p11.2 (EGFR) region were not confirmed by this study. Our results indicate that the risk variants that were confirmed by this study are truly associated with glioma risk and may, consequently, affect gliomagenesis. Though the lack of positive confirmation of EGFR risk variants may be attributable to relatively limited statistical power, it nevertheless raises the question whether they truly are risk variants or markers for glioma prognosis. Our findings indicate the need for further studies to clarify the role of glioma risk loci with respect to prolonged survival versus etiology. ©2015 American Association for Cancer Research.

  19. Risk factors for breast cancer among women in Bhopal urban agglomerate: a case-control study.

    Science.gov (United States)

    Lodha, Rama S; Nandeshwar, Sunil; Pal, D K; Shrivastav, Atul; Lodha, K M; Bhagat, Vimal K; Bankwar, Vishal V; Nandeshwar, Sunil; Saxena, D M

    2011-01-01

    Breast cancer is the most common cancer in females worldwide, and the second leading cause of cancer deaths in women. The incidence is on the rise in India, and breast cancer is the second most common malignancy in Indian women. To assess the risk factors for breast cancer patients living in Bhopal. This case-control study was conducted in Bhopal urban agglomerate for a period of a year from October 2008 to August 2009. Demographic data and reproductive risk factor related information was collected using a structured questionnaire with analyses by Epi-info and SPSS 16. A history of oral contraceptive pill use (OR=2.77, 95% CI: 1.15-6.65), history of not having breastfeeding (OR=3.49, 95% CI:1.22-9.97), over weight (OR=0.11, 95%CI:0.02-0.49), obese women (OR=0.24, 95%CI: 0.06-0.88) and family history of breast cancer (OR=3.89, 95% CI: 1.01-14.92) were associated significantly with the occurrence of breast cancer on multivariate analysis. The findings of the present study suggests that positive family history of breast cancer and history of using OCP may be the epigenetic factors promoting the occurrence of breast cancer while breastfeeding reduces the possibility of acquiring breast cancer.

  20. Birth characteristics of women with Marfan syndrome, obstetric and neonatal outcomes of their pregnancies-A nationwide cohort and case-control study.

    Science.gov (United States)

    Kernell, Kristina; Sydsjö, Gunilla; Bladh, Marie; Josefsson, Ann

    2017-08-01

    The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. Women with Marfan syndrome were more often born preterm (pMarfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (pMarfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. A case-control study of lung cancer in Polish women

    Energy Technology Data Exchange (ETDEWEB)

    Rachtan, J. [M Sklodowska Curie Member Institute, Krakow (Poland)

    2002-07-01

    This study was undertaken to examine the influence of active and passive smoking, cancer family history, occupational exposure, usual diet and alcohol consumption on female lung cancer risk. A total of 242 women with histologically confirmed primary lung cancer and 352 healthy controls were involved in the study. All subjects were interviewed in the hospital. Data were analysed using multivariate logistic regression. Multivariate analysis has shown that smoking was the most strongly active risk factor in female lung cancer, Positive dose-response relationship was observed between lung cancer risk and number of pack-years. Passive smoking exposure during childhood significantly increased the risk (OR=2.65). There was also observed a significantly increased risk of lung cancer among women who had siblings with history of cancer (OR=3.42). Occupational exposure to coal dust, acid fumes (sulphuric and/or hydrochloric) and materials used for rubber making significantly increased the risk. Frequent intake of carrots (at least five times a week) and also daily intake of other vegetables significantly lowered the risk (OR=0.13, OR=0.24). A significant protective effect was also observed in women frequently using margarine on bread (OR=0.14). Vodka drinkers showed significantly higher risk than non-drinking women. The analysis of dose-response relationship in reference to vodka drinking, also confirmed significant influence of this factor on the risk.

  2. Genetic causal beliefs about obesity, self-efficacy for weight control, and obesity-related behaviours in a middle-aged female cohort.

    Science.gov (United States)

    Knerr, Sarah; Bowen, Deborah J; Beresford, Shirley A A; Wang, Catharine

    2016-01-01

    Obesity is a heritable condition with well-established risk-reducing behaviours. Studies have shown that beliefs about the causes of obesity are associated with diet and exercise behaviour. Identifying mechanisms linking causal beliefs and behaviours is important for obesity prevention and control. Cross-sectional multi-level regression analyses of self-efficacy for weight control as a possible mediator of obesity attributions (diet, physical activity, genetic) and preventive behaviours in 487 non-Hispanic White women from South King County, Washington. Self-reported daily fruit and vegetable intake and weekly leisure-time physical activity. Diet causal beliefs were positively associated with fruit and vegetable intake, with self-efficacy for weight control partially accounting for this association. Self-efficacy for weight control also indirectly linked physical activity attributions and physical activity behaviour. Relationships between genetic causal beliefs, self-efficacy for weight control, and obesity-related behaviours differed by obesity status. Self-efficacy for weight control contributed to negative associations between genetic causal attributions and obesity-related behaviours in non-obese, but not obese, women. Self-efficacy is an important construct to include in studies of genetic causal beliefs and behavioural self-regulation. Theoretical and longitudinal work is needed to clarify the causal nature of these relationships and other mediating and moderating factors.

  3. A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder.

    Science.gov (United States)

    Polimanti, Renato; Amstadter, Ananda B; Stein, Murray B; Almli, Lynn M; Baker, Dewleen G; Bierut, Laura J; Bradley, Bekh; Farrer, Lindsay A; Johnson, Eric O; King, Anthony; Kranzler, Henry R; Maihofer, Adam X; Rice, John P; Roberts, Andrea L; Saccone, Nancy L; Zhao, Hongyu; Liberzon, Israel; Ressler, Kerry J; Nievergelt, Caroline M; Koenen, Karestan C; Gelernter, Joel

    2017-11-27

    The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behaviors and functions in women. The analysis was conducted using female-specific summary statistics from large genome-wide association studies (GWAS) and a cohort of 3577 European American women (966 PTSD cases and 2611 trauma-exposed controls). We applied a high-resolution polygenic score approach and Mendelian randomization analysis to investigate genetic correlations and causal relationships. We observed an inverse association of PTSD with genetically determined anthropometric traits related to body shape, independent of body mass index (BMI). The top association was related to BMI-adjusted waist circumference (WC adj ; R = -0.079, P body shape and PTSD, which could be mediated by evolutionary mechanisms involved in human sexual behaviors.

  4. Correlates of Lymphedema in Women with Breast Cancer: a Case Control Study in Shiraz, Southern Iran.

    Science.gov (United States)

    Honarvar, Behnam; Sayar, Negin; Tahmasebi, Sedigheh; Zakeri, Zeinab; Talei, Asra; Rostami, Sara; Khademi, Sahar; Sabzi Sarvestani, Amene; Sekhavati, Eghbal

    2016-01-01

    Globally, the burden of breast cancer (BC) continues to increase. BC related lymphedema (BCRL) is currently non curable and as a life time risk it affects at least 25% of BC patients. Knowing more about BCRL and appropriate control of its modifiable risk factors can improve quality of life (QOL) of the affected patients. In this case control study to detect factors, 400 women with BCRL (as the case group) and 283 patients with BC without lymphedema (as the control group) that were referred to Shiraz University of Medical Sciences affiliated BC clinic center were assessed. The data were analyzed in SPSS. The mean age of the case group was 52.3±11.0 years and of the control group was 50.1±10.9 years. In patients with BCRL, 203(50.7%) had left (Lt) side BC and in non- lymphedema group 151 (53.3%) had Lt side BC. Out of all BCRL patients, 204 (51%) had lymphedema in all parts of their affected upper extremities, 100 (25%) had swelling in the arm and forearm and 23 (5.7%) had edema in both the upper extremity and trunk. Edema, heaviness, concern about changing body image, pain and paresthesia were the most common signs/symptoms among patients with BCRL. In BCRL patients, the difference of circumference between the affected upper limb and non-affected limb was 4.4±2.5 cm and the difference in volume displacement was 528.7±374.4 milliliters. Multiple variable analysis showed that moderate to severe activity (OR; odds ratio =14, 95% CI: 2.6-73.3 ), invasiveness of BC (OR =13.7, 95% CI: 7.3-25.6), modified radical mastectomy (OR=4.3, 95% CI: 2.3-7.9), BMI =>25 (OR=4.2, 95% CI: 2-8.7), radiotherapy (OR=3.9, 95% CI: 1.8-8.2 ), past history of limb damage (OR=1.7, 95% CI: 0.9-3.1) and the number of excised lymph nodes (OR=1.06, 95% CI: 1.02-1.09) were the significant predictors of lymphedema in women with BC. Modifiable risk factors of BCRL such as non-guided moderate to severe physical activity, high BMI and trauma to the limb should be controlled as early as possible in

  5. Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

    Science.gov (United States)

    Zheng, Wei; Zhang, Ben; Cai, Qiuyin; Sung, Hyuna; Michailidou, Kyriaki; Shi, Jiajun; Choi, Ji-Yeob; Long, Jirong; Dennis, Joe; Humphreys, Manjeet K.; Wang, Qin; Lu, Wei; Gao, Yu-Tang; Li, Chun; Cai, Hui; Park, Sue K.; Yoo, Keun-Young; Noh, Dong-Young; Han, Wonshik; Dunning, Alison M.; Benitez, Javier; Vincent, Daniel; Bacot, Francois; Tessier, Daniel; Kim, Sung-Won; Lee, Min Hyuk; Lee, Jong Won; Lee, Jong-Young; Xiang, Yong-Bing; Zheng, Ying; Wang, Wenjin; Ji, Bu-Tian; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Wu, Anna H.; Tseng, Chiu-chen; Van Den Berg, David; Stram, Daniel O.; Teo, Soo Hwang; Yip, Cheng Har; Kang, In Nee; Wong, Tien Y.; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; Hartman, Mikael; Miao, Hui; Lee, Soo Chin; Putti, Thomas Choudary; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Sangrajrang, Suleeporn; Shen, Hongbing; Chen, Kexin; Wu, Pei-Ei; Ren, Zefang; Haiman, Christopher A.; Sueta, Aiko; Kim, Mi Kyung; Khoo, Ui Soon; Iwasaki, Motoki; Pharoah, Paul D.P.; Wen, Wanqing; Hall, Per; Shu, Xiao-Ou; Easton, Douglas F.; Kang, Daehee

    2013-01-01

    In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide association studies (GWASs) conducted primarily in European-ancestry populations. SNPs in 31 loci showed an association with breast cancer risk at P Asians and provided evidence for associations of breast cancer risk in the East Asian population with nearly half of the genetic risk variants initially reported in GWASs conducted in European descendants. Taken together, these common genetic risk variants explain ∼10% of excess familial risk of breast cancer in Asian populations. PMID:23535825

  6. Determinants of vct uptake among pregnant women attending two ANC clinics in Addis Ababa City: unmatched case control study.

    Science.gov (United States)

    Maedot, Paulos; Haile, Amaha; Lulseged, Sileshi; Belachew, Ayele

    2007-10-01

    With HAART PMTCT interventions can reduce the risk of MTCT below 2%. However, low uptake of VCT is challenging effectiveness of PMTCT programs in sub-Saharan Africa. The aim of this study is to identify factors that determine VCT uptake among pregnant women attending ANC services. A case-control study was conducted from August 30, 2005 - November 30, 2005 among pregnant women attending ANC PMTCT services at Teklehaimanot Health Center and Gandhi memorial Hospital in Addis Ababa City. Cases were pregnant mothers who accepted VCT (n=202) and controls were pregnant mothers who refused VCT (n=200). Data was collected by counselor nurses working at the respective services Factors that determine VCT acceptance were women's perceived ability to cope with a positive result (OR = 5.5, 95% CI 3.5-8.5, MHOR = 6.3, 95% CI 3.9-10.2); perceived favorable reaction of husband's after sharing positive test result (OR = 2.7 95% CI 1.4-5.1, MHOR = 2.9, 95% CI 1.4-5.7); perceived positive community response (OR = 2.2 95% CI 1.1-4.2, MHOR = 2.6 95% CI 1.3-5.2); perceived ability to get continuous medical care if found out to be positive (OR = 2.0, 95% CI 1.2-3.5, MHOR = 2.4, 95% CI 1.3-4.5). Women's perceived ability to cope with a positive result, accesses to medical care, fear of husband's negative reaction and the stigma and discrimination following a positive test result were key determinants of uptake of VCT. Therefore, increasing uptake of VCT/PMTCT services needs policy makers and service providers' effort to promote couple counseling, intensifying the fight against stigma and discrimination and ensuring continuous HIV/AIDS related medical care.

  7. What is healthy work for women and men? - A case-control study of gender- and sector-specific effects of psycho-social working conditions on long-term sickness absence.

    Science.gov (United States)

    Lidwall, Ulrik; Marklund, Staffan

    2006-01-01

    The aim of the study was to investigate the relevance of the demand-control model and social support in predicting long-term sickness absence (LTSA). Identifying gender- and sector- (private vs. public) specific patterns was in focus. The study uses a cross-sectional design with a case and a control group. The cases are a sample of 2 327 long-term sick listed (>60 days) and the controls are a Swedish population-based sample of 2 063. Data on sickness absence were retrieved from the Swedish national social insurance registers. Data on health, working and living conditions were gathered through a self-administered questionnaire. The results show that employed women have a notably higher risk for LTSA than employed men. High-strain jobs increase the odds for LTSA among both women and men. Active jobs were also associated with LTSA among women. The study confirms the demand-control model (job strain hypothesis) and social support and their associations with LTSA. However, the job strain hypothesis is more evident in the private sector. Active jobs with high psychological demands and high decision latitude seem to be problematic for many women, especially in the private sector. Thus, the active learning hypothesis receives no support for women in the Swedish working population in general.

  8. A population-based case-control teratologic study of furazidine, a nitrofuran-derivative treatment during pregnancy.

    Science.gov (United States)

    Czeizel, A E; Rockenbauer, M; Sørensen, H T; Olsen, J

    2000-04-01

    To study human teratogenic potential of furazidine treatment during pregnancy. Pair analysis of cases with congenital abnormalities and matched population controls. The Hungarian Case-Control Surveillance of Congenital Abnormalities. 38,151 pregnant women who had newborn infants without any defects (population control group) and 22,865 pregnant women who had newborns or fetuses with congenital abnormalities between 1980 and 1996. In the case group, 157 (0.7%) and in the control group, 254 (0.7%) pregnant women were treated with furazidine. The case-control pair analysis did not indicate a teratogenic potential of furazidine use during the second to third months of gestation, i.e. in the critical period for major congenital abnormalities. Treatment with furazidine during pregnancy did not show teratogenic risk to the fetus.

  9. Relationship of family formation characteristics with unsafe abortion: is it confounded by women's socio-economic status? - A case-control study from Sri Lanka.

    Science.gov (United States)

    Arambepola, Carukshi; Rajapaksa, Lalini C; Attygalle, Deepika; Moonasinghe, Loshan

    2016-06-17

    Literature shows that choice for unsafe abortion is often driven by poverty. However, factors related to the family formation behaviour of women are also implied as determinants of this decision. This study assessed which family formation characteristics of women are associated with the risk of unsafe abortion, without being confounded by their low socio-economic status among Sri Lankan women admitted to hospital following post-abortion complications. An unmatched case-control study was conducted in nine hospitals in eight districts in Sri Lanka among 171 women with post-abortion complications following unsafe abortion (Cases) and 600 postpartum mothers admitted to same hospitals during the same period for delivery of term unintended pregnancies (Controls). Interviewer-administered-questionnaires obtained demographic, socio-economic and family formation related characteristics. Risk factors of abortion were assessed by odds-ratio (OR), adjusted for their socio-economic status in logistic regression analysis. Low socio-economic status, characterised by low-education (adjusted OR = 1.5; 95 % CI = 1.1-2.4) and less/unskilled occupations (2.3; 1.4-3.6) was a significant risk factor for unsafe abortion. Independent of this risk, being unmarried (9.3; 4.0-21.6), failure in informed decisions about desired family size (2.2; 1.4-3.5), not having a girl-child (2.2; 1.4-3.4) and longer average birth intervals (0.7 years; 0.6-0.8) signified the vulnerability of women for unsafe abortion. Cases were as fast as the controls in their family completion (4.3 versus 4.5 years; p = 0.4), but were at increased risk for abortion, if their average birth intervals (including the last one) were longer. Previous contraceptive use, age at reproductive events or partners' characteristics did not impart any risk for abortion. Low socio-economic status is not the most influencing risk factor for unsafe abortions leading to complications, but many other factors in relation to

  10. Case–control study of breast cancer and exposure to synthetic environmental chemicals among Alaska Native women

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    Adrianne K. Holmes

    2014-11-01

    Full Text Available Background: Exposure to environmental chemicals may impair endocrine system function. Alaska Native (AN women may be at higher risk of exposure to these endocrine disrupting chemicals, which may contribute to breast cancer in this population. Objective: To measure the association between exposure to select environmental chemicals and breast cancer among AN women. Design: A case–control study of 170 women (75 cases, 95 controls recruited from the AN Medical Center from 1999 to 2002. Participants provided urine and serum samples. Serum was analyzed for 9 persistent pesticides, 34 polychlorinated biphenyl (PCB congeners, and 8 polybrominated diethyl ether (PBDE congeners. Urine was analyzed for 10 phthalate metabolites. We calculated geometric means (GM and compared cases and controls using logistic regression. Results: Serum concentrations of most pesticides and 3 indicator PCB congeners (PCB-138/158; PCB-153, PCB-180 were lower in case women than controls. BDE-47 was significantly higher in case women (GM=38.8 ng/g lipid than controls (GM=25.1 ng/g lipid (p=0.04. Persistent pesticides, PCBs, and most phthalate metabolites were not associated with case status in univariate logistic regression. The odds of being a case were higher for those with urinary mono-(2-ethylhexyl phthalate (MEHP concentrations that were above the median; this relationship was seen in both univariate (OR 2.16, 95% CI 1.16–4.05, p=0.02 and multivariable (OR 2.43, 95% CI 1.13–5.25, p=0.02 logistic regression. Women with oestrogen receptor (ER–/progesterone receptor (PR-tumour types tended to have higher concentrations of persistent pesticides than did ER+/PR+ women, although these differences were not statistically significant. Conclusions: Exposure to the parent compound of the phthalate metabolite MEHP may be associated with breast cancer. However, our study is limited by small sample size and an inability to control for the confounding effects of body mass index

  11. Breast Cancer and Modifiable Lifestyle Factors in Argentinean Women: Addressing Missing Data in a Case-Control Study

    Science.gov (United States)

    Coquet, Julia Becaria; Tumas, Natalia; Osella, Alberto Ruben; Tanzi, Matteo; Franco, Isabella; Diaz, Maria Del Pilar

    2016-01-01

    A number of studies have evidenced the effect of modifiable lifestyle factors such as diet, breastfeeding and nutritional status on breast cancer risk. However, none have addressed the missing data problem in nutritional epidemiologic research in South America. Missing data is a frequent problem in breast cancer studies and epidemiological settings in general. Estimates of effect obtained from these studies may be biased, if no appropriate method for handling missing data is applied. We performed Multiple Imputation for missing values on covariates in a breast cancer case-control study of Córdoba (Argentina) to optimize risk estimates. Data was obtained from a breast cancer case control study from 2008 to 2015 (318 cases, 526 controls). Complete case analysis and multiple imputation using chained equations were the methods applied to estimate the effects of a Traditional dietary pattern and other recognized factors associated with breast cancer. Physical activity and socioeconomic status were imputed. Logistic regression models were performed. When complete case analysis was performed only 31% of women were considered. Although a positive association of Traditional dietary pattern and breast cancer was observed from both approaches (complete case analysis OR=1.3, 95%CI=1.0-1.7; multiple imputation OR=1.4, 95%CI=1.2-1.7), effects of other covariates, like BMI and breastfeeding, were only identified when multiple imputation was considered. A Traditional dietary pattern, BMI and breastfeeding are associated with the occurrence of breast cancer in this Argentinean population when multiple imputation is appropriately performed. Multiple Imputation is suggested in Latin America’s epidemiologic studies to optimize effect estimates in the future. PMID:27892664

  12. Case-control study of fetal microchimerism and breast cancer.

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    Vijayakrishna K Gadi

    2008-03-01

    Full Text Available Prior pregnancy is known to protect against development of breast cancer. Recent studies have demonstrated that pregnancy has the capacity to establish small numbers of immunologically active fetal-derived cells in the mother, a phenomenon known as fetal microchimerism (FMc. We asked whether presence of FMc, routinely acquired during pregnancy, is a protective factor for breast cancer.DNA extracts from peripheral blood specimens were obtained from a population-based case-control study of risk factors for breast cancer in women 21 to 45 years old. Specimens were tested with quantitative PCR for presence and concentrations of male DNA presumed to derive from prior pregnancies with a male fetus. Odds ratios (OR and 95% confidence intervals (CI were estimated with consideration of multiple established reproductive and environmental risk factors for breast cancer. FMc results were generated on 99 parous women, 54 with primary invasive breast cancer and 45 general population controls. FMc prevalence was 56% (25/45 and 26% (14/54 in controls and cases, respectively. Women harboring FMc were less likely to have had breast cancer (OR = 0.29, 95% CI 0.11-0.83; p = 0.02, adjusting for age, number of children, birth of a son, history of miscarriage, and total DNA tested. In addition, FMc concentrations were higher in controls versus cases (p = 0.01. Median concentrations were 2 (0-78 and 0 (0-374 fetal genomes/10(6 maternal genomes in controls and cases, respectively.Results suggest that the enigma of why some parous women are not afforded protection from breast cancer by pregnancy might in part be explained by differences in FMc. Mechanistic studies of FMc-derived protection against breast cancer are warranted.

  13. A prevalence-based association test for case-control studies.

    Science.gov (United States)

    Ryckman, Kelli K; Jiang, Lan; Li, Chun; Bartlett, Jacquelaine; Haines, Jonathan L; Williams, Scott M

    2008-11-01

    Genetic association is often determined in case-control studies by the differential distribution of alleles or genotypes. Recent work has demonstrated that association can also be assessed by deviations from the expected distributions of alleles or genotypes. Specifically, multiple methods motivated by the principles of Hardy-Weinberg equilibrium (HWE) have been developed. However, these methods do not take into account many of the assumptions of HWE. Therefore, we have developed a prevalence-based association test (PRAT) as an alternative method for detecting association in case-control studies. This method, also motivated by the principles of HWE, uses an estimated population allele frequency to generate expected genotype frequencies instead of using the case and control frequencies separately. Our method often has greater power, under a wide variety of genetic models, to detect association than genotypic, allelic or Cochran-Armitage trend association tests. Therefore, we propose PRAT as a powerful alternative method of testing for association.

  14. Genetic association of HCRTR2, ADH4 and CLOCK genes with cluster headache: a Chinese population-based case-control study.

    Science.gov (United States)

    Fan, Zhiliang; Hou, Lei; Wan, Dongjun; Ao, Ran; Zhao, Dengfa; Yu, Shengyuan

    2018-01-09

    Cluster headache (CH), a rare primary headache disorder, is currently thought to be a genetic susceptibility which play a role in CH susceptibility. A large numbers of genetic association studies have confirmed that the HCRTR2 (Hypocretin Receptor 2) SNP rs2653349, and the ADH4 (Alcohol Dehydrogenase 4) SNP rs1126671 and rs1800759 polymorphisms are linked to CH. In addition, the CLOCK (Circadian Locomotor Output Cycles Kaput) gene is becoming a research hotspot for CH due to encoding a transcription factor that serves as a basic driving force for circadian rhythm in humans. The purpose of this study was to evaluate the association between CH and the HCRTR2, ADH4 and CLOCK genes in a Chinese CH case-control sample. We genotyped polymorphisms of nine single nucleotide polymorphisms (SNPs) in the HCRTR2, ADH4 and CLOCK genes to perform an association study on a Chinese Han CH case-control sample (112 patients and 192 controls),using Sequenom MALDI-TOF mass spectrometry iPLEX platform. The frequencies and distributions of genotypes and haplotypes were statistically compared between the case and control groups to identify associations with CH. The effects of SNPs on CH were further investigated by multiple logistic regression. The frequency of the HCRTR2 SNP rs3800539 GA genotype was significantly higher in cases than in controls (48.2% vs.37.0%). The GA genotypes was associated with a higher CH risk (OR = 1.483, 95% CI: 0.564-3.387, p = 0.038), however, after Bonferroni correction, the association lost statistical significance. Haplotype analysis of the HCRTR2 SNPs showed that among eight haplotypes, only H1-GTGGGG was linked to a reduced CH risk (44.7% vs. 53.1%, OR = 0.689, 95% CI =0.491~0.966, p = 0.030). No significant association of ADH4, CLOCK SNPs with CH was statistically detected in the present study. Association between HCRTR2, ADH4,CLOCK gene polymorphisms and CH was not significant in the present study, however, haplotype analysis indicated

  15. Voluptuary habits and clinical subtypes of Parkinson's disease: the FRAGAMP case-control study.

    Science.gov (United States)

    Nicoletti, Alessandra; Pugliese, Pierfrancesco; Nicoletti, Giuseppe; Arabia, Gennarina; Annesi, Grazia; Mari, Michele De; Lamberti, Paolo; Grasso, Lucia; Marconi, Roberto; Epifanio, Antonio; Morgante, Letterio; Cozzolino, Autilia; Barone, Paolo; Torchia, Giusi; Quattrone, Aldo; Zappia, Mario

    2010-10-30

    We evaluated the possible association between smoking, coffee drinking, and alcohol consumption and Parkinson's disease (PD). The FRAGAMP study is a large Italian multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in PD. Adjusted ORs were estimated using unconditional logistic regression. Smoking, coffee, and alcohol consumption were also considered as surrogate markers of lifestyle and analysis was carried out considering the presence of at least one, two, or three factors. This latter analysis was separately performed considering Tremor-Dominant (TD) and Akinetic-Rigid (AR) patients. Four hundred ninety-two PD patients (292 men and 200 women) and 459 controls (160 men and 299 women) were enrolled in the study. Multivariate analysis showed a significant negative association between PD and cigarette smoking (OR 0.51; 95%CI 0.36-0.72), coffee drinking (OR 0.61; 95%CI 0.43-0.87) and wine consumption (OR 0.62; 95%CI 0.44-0.86); a significant trend dose-effect (P coffee, and alcohol consumption. When analysis was carried out considering the association of these factors as possible surrogate markers of a peculiar lifestyle the association was stronger for the AR phenotype.

  16. MSX1 gene variant - its presence in tooth absence - a case control genetic study.

    Science.gov (United States)

    Reddy, Naveen Admala; Adusumilli, Gopinath; Devanna, Raghu; Pichai, Saravanan; Rohra, Mayur Gobindram; Arjunan, Sharmila

    2013-10-01

    Non Syndromic tooth agenesis is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study was to test whether MSX1 671 T>C gene variant was involved in etiology of Non Syndromic tooth agenesis in Raichur Patients. Blood samples were collected with informed consent from 50 subjects having Non Syndromic tooth agenesis and 50 controls. Genomic DNA was extracted from the blood samples, Polymerase Chain Reaction was performed (PCR) and Restriction Fragment Length Polymorphism (RFLP) was performed for digestion products that were evaluated. The RESULTS showed positive correlation between MSX1671 T>C gene variant and Non Syndromic tooth agenesis in Raichur Patients. MSX1 671 T>C gene variant may be a good screening marker for Non Syndromic tooth agenesis in Raichur Patients . How to cite this article:Reddy NA, Adusumilli G, Devanna R, Pichai S, Rohra MG, Arjunan S. Msx1 Gene Variant - Its Presence in Tooth Absence - A Case Control Genetic Study. J Int Oral Health 2013; 5(5):20-6.

  17. Decision-making about prenatal genetic testing among pregnant Korean-American women.

    Science.gov (United States)

    Jun, Myunghee; Thongpriwan, Vipavee; Choi, Jeeyae; Sook Choi, Kyung; Anderson, Gwen

    2018-01-01

    to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. a qualitative, descriptive research design. referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U.S. ranged from 4 to 11 (M=5.7). various regional areas of the U.S. the researchers conducted face-to-face or phone interviews using semi-structured interview guides. The interviews were conducted in the Korean language and lasted approximately 50-100minutes. The interview guides focused on the decision-making process and experiences with prenatal genetic testing, as well as reflections on the decisions. Four core themes emerged related to the participants' decision-making processes, according to their descriptions. These themes are (1) facing the challenges of decision-making, (2) seeking support, (3) determining one's preferred role in the decision-making process, and (4) feeling uncomfortable with the degree of patient autonomy in U.S. health care. researchers concluded that many distinctive factors influence the decision-making processes used by pregnant Korean-American women. The results have the potential to improve shared decision-making practices regarding prenatal genetic testing. clinicians need to understand the sociocultural underpinnings of pregnant Korean-American immigrants regarding prenatal genetic screening and testing as an initial step to engage these patients in shared decision-making. Published by Elsevier Ltd.

  18. Work and family: associations with long-term sick-listing in Swedish women – a case-control study

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    Sandmark Hélène

    2007-10-01

    Full Text Available Abstract Background The number of Swedish women who are long-term sick-listed is high, and twice as high as for men. Also the periods of sickness absence have on average been longer for women than for men. The objective of this study was to investigate the associations between factors in work- and family life and long-term sick-listing in Swedish women. Methods This case-control study included 283 women on long-term sick-listing ≥90 days, and 250 female referents, randomly chosen, living in five counties in Sweden. Bivariate and multivariate logistic regression analyses with odds ratios were calculated to estimate the associations between long-term sick-listing and factors related to occupational work and family life. Results Long-term sick-listing in women is associated with self-reported lack of competence for work tasks (OR 2.42 1.23–11.21 log reg, workplace dissatisfaction (OR 1.89 1.14–6.62 log reg, physical workload above capacity (1.78 1.50–5.94, too high mental strain in work tasks (1.61 1.08–5.01 log reg, number of employers during work life (OR 1.39 1.35–4.03 log reg, earlier part-time work (OR 1.39 1.18–4.03 log reg, and lack of influence on working hours (OR 1.35 1.47–3.86 log reg. A younger age at first child, number of children, and main responsibility for own children was also found to be associated with long-term sick-listing. Almost all of the sick-listed women (93% wanted to return to working life, and 54% reported they could work immediately if adjustments at work or part-time work were possible. Conclusion Factors in work and in family life could be important to consider to prevent women from being long-term sick-listed and promote their opportunities to remain in working life. Measures ought to be taken to improve their mobility in work life and control over decisions and actions regarding theirs lives.

  19. Genetic structure of Mexican Mestizo women with breast cancer based on three STR loci.

    Science.gov (United States)

    Calderón-Garcidueñas, Ana L; Rivera-Prieto, Roxana A; Ortíz-Lopez, Rocio; Rivas, Fernando; Barrera-Saldaña, Hugo A; Peñaloza-Espinosa, Rosenda I; Cerda-Flores, Ricardo M

    2008-01-01

    The aim of this population genetics study was to compare the genetic structure of Mexican women with breast cancer (BrCa) with previously reported data of four random populations (Nuevo León, Hispanics, Chihuahua, and Central Region of Mexico). A sample of 115 unrelated women with BrCa and whose four grandparents were born in five zones of Mexico were interviewed at a reference hospital in Northeastern Mexico. Noncodifying STRs D7S820, D13S317, and D16S39 were analyzed; genotype distribution was in agreement with Hardy-Weinberg expectations for all three markers. Similar allele frequencies among four random populations and this selected population were found. According with this and previous studies using molecular and nonmolecular nuclear DNA markers not associated with any disease, Mexican Mestizo population is genetically homogeneous and therefore, genetic causes of BrCa are less heterogeneous, simplifying genetic epidemiologic studies.

  20. Effect of nurse case management on the treatment of older women with breast cancer.

    Science.gov (United States)

    Goodwin, James S; Satish, Shiva; Anderson, Elizabeth T; Nattinger, Ann B; Freeman, Jean L

    2003-09-01

    To evaluate the effect of nurse case management on the treatment of older women with breast cancer. Randomized prospective trial. Sixty surgeons practicing at 13 community and two public hospitals in southeast Texas. Three hundred thirty-five women (166 control and 169 intervention) aged 65 and older newly diagnosed with breast cancer. Women seeing surgeons randomized to the intervention group received the services of a nurse case manager for 12 months after the diagnosis of breast cancer. The primary outcome was the type and use of cancer-specific therapies received in the first 6 months after diagnosis. Secondary outcomes were patient satisfaction and arm function on the affected side 2 months after diagnosis. More women in the intervention group received breast-conserving surgery (28.6% vs 18.7%; P=.031) and radiation therapy (36.0% vs 19.0%; P=.003). Of women undergoing breast-conserving surgery, greater percentages in the case management group received adjuvant radiation (78.3% vs 44.8%; P=.001) and axillary dissection (71.4% vs 44.8%; P=.057). Women in the case management group were also more likely to receive more breast reconstruction surgery (9.3% vs 2.6%, P=.054), and women in the case management group with advanced cancer were more likely to receive chemotherapy (72.7% vs 30.0%, P=.057). Two months after surgery, higher percentages of women in the case manager group had normal arm function (93% vs 84%; P=.037) and were more likely to state that they had a real choice in their treatment (82.2% vs 69.9%, P=.020). Women with indicators of poor social support were more likely to benefit from nurse case management. Nurse case management results in more appropriate management of older women with breast cancer.

  1. Behavioral and psychosocial risk factors associated with first and recurrent cystitis in Indian women: A case-control study

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    Bharti Mishra

    2016-01-01

    Full Text Available Background: The risk factors for urinary tract infections (UTIs from developed countries are not applicable to women from developing world. Objective: To analyze the behavioral practices and psychosocial aspects pertinent to women in our region and assess their association with acute first time or recurrent UTI. Materials and Methods: Sexually active premenopausal women with their first (145 and recurrent (77 cystitis with Escherichia coli as cases and women with no prior history of UTI as healthy controls (257 were enrolled at a tertiary care hospital in India, between June 2011 and February 2013. Questionnaire-based data was collected from each participant through a structured face-to-face interview. Results: Using univariate and multivariate regression models, independent risk factors for the first episode of cystitis when compared with healthy controls were (presented in odds ratios [ORs] with its 95% confidence interval [CI]: Anal sex (OR = 3.68, 95% CI = 1.59-8.52, time interval between last sexual intercourse and current episode of UTI was 250 ml of tea consumption per day (OR = 4.73, 95% CI = 2.67-8.38, presence of vaginal infection (OR = 3.23, 95% CI = 1.85-5.62 and wiping back to front (OR = 2.52, 95% CI = 1.45-4.38. Along with the latter three, history of UTI in a first-degree female relative (OR = 10.88, 95% CI = 2.41-49.07, constipation (OR = 4.85, 95% CI = 1.97-11.92 and stress incontinence (OR = 2.45, 95% CI = 1.18-5.06 were additional independent risk factors for recurrent cystitis in comparison to healthy controls. Conclusion: Most of the risk factors for initial infection are potentially modifiable but sufficient to also pose risk for recurrence. Many of the findings reflect the cultural and ethnic practices in our country.

  2. Breast cancer in Mexican women: an epidemiological study with cervical cancer control

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    Víctor Tovar-Guzmán

    2000-04-01

    Full Text Available INTRODUCTION: In Mexico, breast cancer (BC is one of the main causes of cancer deaths in women, with increasing incidence and mortality in recent years. Therefore, the aim of the study is identify possible risk factors related to BC. METHODS: An epidemiological study of hospital cases of BC and controls with cervical uterine cancer (CUCA was carried out at eight third level concentration hospitals in Mexico City. The total of 353 incident cases of BC and 630 controls with CUCA were identified among women younger than 75 years who had been residents of the metropolitan area of Mexico City for at least one year. Diagnosis was confirmed histologically in both groups. Variables were analyzed according to biological and statistical plausibility criteria. Univariate, bivariate and multivariate analyses were carried out. Cases and controls were stratified according to the menopausal hormonal status (pre and post menopause. RESULTS: The factors associated with BC were: higher socioeconomic level (OR= 2.77; 95%CI = 1.77 - 4.35; early menarche (OR= 1.32; 95%CI= 0.88 - 2.00; old age at first pregnancy (>31 years: OR= 5.49; 95%CI= 2.16 - 13.98 and a family history of BC (OR= 4.76; 95% CI= 2.10 - 10.79. In contrast, an increase in the duration of the breastfeeding period was a protective factor (>25 months: OR= 0.38; 95%CI= 0.20 - 0.70. CONCLUSIONS: This study contributes to the identification of risk factors for BC described in the international literature, in the population of Mexican women. Breastfeeding appears to play an important role in protecting women from BC. Because of changes in women`s lifestyles, lactation is decreasing in Mexico, and young women tend not to breastfeed or to shorten the duration of lactation.

  3. Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies.

    Science.gov (United States)

    Vaithilingam, R D; Safii, S H; Baharuddin, N A; Ng, C C; Cheong, S C; Bartold, P M; Schaefer, A S; Loos, B G

    2014-12-01

    Studies to elucidate the role of genetics as a risk factor for periodontal disease have gone through various phases. In the majority of cases, the initial 'hypothesis-dependent' candidate-gene polymorphism studies did not report valid genetic risk loci. Following a large-scale replication study, these initially positive results are believed to be caused by type 1 errors. However, susceptibility genes, such as CDKN2BAS (Cyclin Dependend KiNase 2B AntiSense RNA; alias ANRIL [ANtisense Rna In the Ink locus]), glycosyltransferase 6 domain containing 1 (GLT6D1) and cyclooxygenase 2 (COX2), have been reported as conclusive risk loci of periodontitis. The search for genetic risk factors accelerated with the advent of 'hypothesis-free' genome-wide association studies (GWAS). However, despite many different GWAS being performed for almost all human diseases, only three GWAS on periodontitis have been published - one reported genome-wide association of GLT6D1 with aggressive periodontitis (a severe phenotype of periodontitis), whereas the remaining two, which were performed on patients with chronic periodontitis, were not able to find significant associations. This review discusses the problems faced and the lessons learned from the search for genetic risk variants of periodontitis. Current and future strategies for identifying genetic variance in periodontitis, and the importance of planning a well-designed genetic study with large and sufficiently powered case-control samples of severe phenotypes, are also discussed. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Nested case-control study of night shift work and breast cancer risk among women in the Danish military.

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    Hansen, Johnni; Lassen, Christina F

    2012-08-01

    Growing but limited evidence suggests that night shift work is associated with breast cancer. The authors conducted a nationwide case-control study nested within a cohort of 18,551 female military employees born in 1929-1968 to investigate the risk for breast cancer after night shift work and to explore the role of leisure time sun exposure and diurnal preference. The authors documented 218 cases of breast cancer (1990-2003) and selected 899 age-matched controls from the cohort by incidence density sampling. Information on shift work, sun exposure habits, diurnal preference and other potential confounders was obtained from a structured questionnaire. ORs were estimated by multivariate conditional logistic regression. Overall, the authors observed an adjusted OR of 1.4 (95% CI 0.9 to 2.1) among women with ever compared with never night shifts. The RR for breast cancer tended to increase with increasing number of years of night shift work (p=0.03) and with cumulative number of shifts (p=0.02),with a neutral risk for fewer than three night shifts per week. The OR for the group with the highest tertile of cumulative exposure was 2.3 (95% CI 1.2 to 4.6). The most pronounced effect of night shift work on breast cancer risk was observed in women with morning chronotype preference and intense night shifts (OR=3.9, 95% CI 1.6 to 9.5). Night shift workers tended to sunbathe more frequently than day workers. The results indicate that frequent night shift work increases the risk for breast cancer and suggest a higher risk with longer duration of intense night shifts. Women with morning preference who worked on night shifts tended to have a higher risk than those with evening preference.

  5. The effects of umbilical cord entanglement upon labor management and fetal health: retrospective case control study.

    Science.gov (United States)

    Buyukkayaci Duman, Nuriye; Topuz, Senay; Bostanci, Mehmet Omer; Gorkem, Umit; Yuksel Kocak, Derya; Togrul, Cihan; Gungor, Tayfun

    2018-03-01

    This retrospective study aimed at determining prognostic factors that paved the way for umbilical cord entanglement (UCE) and the effects of UCE upon labor management and fetal health. Sixty women who gave term birth with head presentation and received UCE diagnosis following birth composed the case group while another 60 women with the same characteristics who were selected with randomized sampling method and who did not develop UCE comprised the control group. The data obtained were processed with SPSS 22.0 statistical program. T test was used for comparing demographic and obstetric data and mean birth weight of babies in the case group and control group. For comparing data on active labor management and fetal health, numbers, percentages and chi-square test were used. Also for comparing values case: 58.3.0%; control: 21.7%), vacuum assisted vaginal delivery (case: 20.0%; control: 3.3%), forceps assisted vaginal delivery (case: 8.3%; control: 1.7%), fetal distress (case: 60.0%; control: 25.0%), amniotic fluid meconium (case: 58.3%; control: 21.7%), APGAR score less than 7 at the 1st minute (case: 58.3%; control: 21.7%) and APGAR score less than 7 at the 5th minute were higher in the women in the case group than the women in the control group (p < 0.05). UCE increased rates of interventional birth, emergent cesarean delivery, vacuum assisted vaginal delivery, forceps assisted vaginal delivery, amniotic fluid meconium and fetal distress.

  6. Nurse case management for pregnant women experiencing or at risk for abuse.

    Science.gov (United States)

    Curry, Mary Ann; Durham, Laurel; Bullock, Linda; Bloom, Tina; Davis, Jan

    2006-01-01

    To determine whether individualized nursing case management can decrease stress among pregnant women at risk for or in abusive relationships. A multisite randomized controlled trial. Two prenatal clinics in the Pacific Northwest and rural Midwest. 1,000 women who spoke English and were 13 to 23 weeks pregnant at time of recruitment. All intervention group women (N = 499) were offered an abuse video and had access to a nurse case manager 24/7. Additionally, participants at risk for or in abusive relationships received individualized nursing care management throughout the pregnancy. The most frequent nursing care management activities were providing support (38%) and assessing needs (32%). The nursing care management group received an average of 22 contacts, most (80%) by telephone and had a significant reduction in stress scores as measured by the Prenatal Psychosocial Profile. Compared to the control group, the differences were in the predicted direction, but not statistically different. A major finding was the choice by abused women to focus on basic needs and their pregnancies rather than the abuse, although all received safety planning. Pregnant women at risk for or in abusive relationships experience very stressful and complex lives. Nurses need to focus on the needs they identify, which may not be the abusive relationship.

  7. Maternal welfare, morbidity and mortality 6-15 years after a pregnancy complicated by alcohol and substance abuse: a register-based case-control follow-up study of 524 women.

    Science.gov (United States)

    Kahila, Hanna; Gissler, Mika; Sarkola, Taisto; Autti-Rämö, Ilona; Halmesmäki, Erja

    2010-10-01

    A register-based retrospective case-control study to investigate the long-term morbidity, mortality, and welfare among women with alcohol and/or substance misuse identified during pregnancy. Cohort of 524 women followed-up ante- and perinatally 1992-2001 at special out-patient clinics of maternity hospitals in the capital area of Finland. The control group of 1792 women with no evidence of alcohol or substance misuse was matched for maternal age, parity, date of birth and hospital of index delivery. Both groups were followed-up until end of 2007. 7.9% (42/524) of the cases and 0.2% (4/1792) of the controls had died by the end of the median follow-up of 9 years (OR 38, 95% CI 14-108). The cases displayed significant morbidity requiring in-patient care in the areas of mental disorders (AOR 8.8, 95% CI 6.5-11.9), viral (AOR 23.5, 95% CI 8.8-62.7) and bacterial (AOR 6.1, 95% CI 3.5-10.4) infections, skin diseases (AOR 3.9, 95% CI 2.0-7.8) and injury and poisoning (AOR 4.2, 95% CI 3.1-5.6). The cases displayed more out-patient visits (OR 2.7, 95% CI 2.7-2.8). Their mean length of hospital stay was longer compared to controls (10.3 vs. 4.4 days, p<0.001). The risk of pension granted due to a disorder, disease or disability (OR 8.8, 95% CI 6.0-13.0) and the risk for minimum unemployment benefit were higher compared to controls (OR 2.1, 95% CI 1.8-2.5). These women display significant long-term morbidity, mortality and loss of productivity after delivery. The results emphasize the importance of adequate postnatal follow-up and treatment for misuse. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  8. The cardiovascular risk of young women with polycystic ovary syndrome: an observational, analytical, prospective case-control study.

    Science.gov (United States)

    Orio, Francesco; Palomba, Stefano; Spinelli, Letizia; Cascella, Teresa; Tauchmanovà, Libuse; Zullo, Fulvio; Lombardi, Gaetano; Colao, Annamaria

    2004-08-01

    To evaluate the cardiovascular risk of polycystic ovary syndrome (PCOS), we investigated lipid profile, metabolic pattern, and echocardiography in 30 young women with PCOS and 30 healthy age- and body mass index (BMI)-matched women. PCOS women had higher fasting glucose and insulin levels, homeostasis model assessment score of insulin sensitivity, total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, and TC/high density lipoprotein cholesterol (HDL-C) ratio and lower HDL-C levels than controls. Additionally, PCOS women had higher left atrium size (32.0 +/- 4.9 vs. 27.4 +/- 2.1 mm; P index (80.5 +/- 18.1 vs. 56.1 +/- 5.4 g/m(2); P 18 and 30 kg/m(2))], the differences between PCOS women and controls were maintained in overweight and obese women. In normal weight PCOS women, a significant increase in left ventricular mass index and a decrease in diastolic filling were observed, notwithstanding no change in TC, LDL-C, HDL-C, TC/HDL-C ratio, and TG compared with controls. In conclusion, our data show the detrimental effect of PCOS on the cardiovascular system even in young women asymptomatic for cardiac disease.

  9. Hormonal contraceptive use and risk of glioma among younger women a nationwide case-control study

    DEFF Research Database (Denmark)

    Andersen, Lene; Friis, Søren; Hallas, Jesper

    2015-01-01

    AIM: Oral contraceptive use influences the risk for certain cancers; however, few studies have examined any link with risk of central nervous system tumors. We investigated the association between hormonal contraceptive use and glioma risk among premenopausal women in a population-based setting...... risk set sampling. Based on prescription data, exposure until 2 years prior to the index date was categorized according to hormonal contraceptive type, i.e., combined estrogen-progestagen or progestagen-only, and duration of use (... to compute odds ratios (ORs) with 95% confidence intervals (CIs) for glioma associated with hormonal contraceptive use, adjusting for potential confounders. RESULTS: We identified 317 cases and 2,126 controls. Ever use of hormonal contraceptive was associated with an OR of 1.5 (95% CI: 1...

  10. Risk of breast cancer by type of menopausal hormone therapy: a case-control study among post-menopausal women in France.

    Directory of Open Access Journals (Sweden)

    Emilie Cordina-Duverger

    Full Text Available BACKGROUND: There is extensive epidemiological evidence that menopausal hormone therapy (MHT increases breast cancer risk, particularly combinations of estrogen and progestagen (EP. We investigated the effects of the specific formulations and types of therapies used by French women. Progestagen constituents, regimen (continuous or sequential treatment by the progestagen, and time interval between onset of menopause and start of MHT were examined. METHODS: We conducted a population-based case-control study in France in 1555 menopausal women (739 cases and 816 controls. Detailed information on MHT use was obtained during in-person interviews. Odds ratios and 95% confidence interval adjusted for breast cancer risk factors were calculated. RESULTS: We found that breast cancer risk differed by type of progestagen among current users of EP therapies. No increased risk was apparent among EP therapy users treated with natural micronized progesterone. Among users of EP therapy containing a synthetic progestin, the odds ratio was 1.57 (0.99-2.49 for progesterone-derived and 3.35 (1.07-10.4 for testosterone-derived progestagen. Women with continuous regimen were at greater risk than women treated sequentially, but regimen and type of progestagen could not be investigated independently, as almost all EP combinations containing a testosterone-derivative were administered continuously and vice-versa. Tibolone was also associated with an increased risk of breast cancer. Early users of MHT after onset of menopause were at greater risk than users who delayed treatment. CONCLUSION: This study confirms differential effects on breast cancer risk of progestagens and regimens specifically used in France. Formulation of EP therapies containing natural progesterone, frequently prescribed in France, was not associated with increased risk of breast cancer but may poorly protect against endometrial cancer.

  11. Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Paul J Leo

    2017-08-01

    Full Text Available A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression are incompletely understood. We sought to define the genetic loci involved in cervical neoplasia and to assess its heritability using unbiased unrelated case/control statistical approaches. We demonstrated strong association of cervical neoplasia with risk and protective HLA haplotypes that are determined by the amino-acids carried at positions 13 and 71 in pocket 4 of HLA-DRB1 and position 156 in HLA-B. Furthermore, 36% (standard error 2.4% of liability of HPV-associated cervical pre-cancer and cancer is determined by common genetic variants. Women in the highest 10% of genetic risk scores have approximately >7.1% risk, and those in the highest 5% have approximately >21.6% risk, of developing cervical neoplasia. Future studies should examine genetic risk prediction in assessing the risk of cervical neoplasia further, in combination with other screening methods.

  12. Lifestyle and Genetic Predictors of Stiffness Index in Community-dwelling Elderly Korean Men and Women.

    Science.gov (United States)

    Park, Kyung-Ae; Park, Yeon-Hwan; Suh, Min-Hee; Choi-Kwon, Smi

    2015-09-01

    Differing lifestyle, nutritional, and genetic factors may lead to a differing stiffness index (SI) determined by quantitative ultrasound in elderly men and women. The purpose of this study was to determine SI and the gender-specific factors associated with low SI in a Korean elderly cohort. This was a cross-sectional descriptive study identifying the gender-specific factors related to SI in 252 men and women aged 65 years and greater from local senior centers in Seoul, Korea between January and February 2009. The mean SI of elderly men was significantly higher than that of the women's. A multiple regression analysis reveals that age, nutritional status, and physical activity were predictive factors of lower SI in men, whereas age, alcohol consumption, educational level, and genetic polymorphism were predictive factors for elderly women. Low SI was common in both elderly men and women. We found gender differences in factors linked to low SI. In multiple regression analysis, nutritional status and physical activity were more important factors in men, whereas alcohol consumption, educational level, and genetic polymorphism were significant factors predicting low SI in women. Gender-specific modifiable risk factors associated with low SI should be considered when developing osteoporosis prevention programs for the elderly. Copyright © 2015. Published by Elsevier B.V.

  13. Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: A case control study

    International Nuclear Information System (INIS)

    Okobia, Michael N; Taioli, Emanuela; Bunker, Clareann H; Garte, Seymour J; Zmuda, Joseph M; Ezeome, Emmanuel R; Anyanwu, Stanley N; Uche, Emmanuel E; Kuller, Lewis H; Ferrell, Robert E

    2008-01-01

    Leptin, a 16 kDa polypeptide hormone, implicated in various physiological processes, exerts its action through the leptin receptor, a member of the class I cytokine receptor family. Both leptin and leptin receptor have recently been implicated in processes leading to breast cancer initiation and progression in animal models and humans. An A to G transition mutation in codon 223 in exon 6 of the leptin receptor gene, resulting in glutamine to arginine substitution (Gln223Arg), lies within the first of two putative leptin-binding regions and may be associated with impaired signaling capacity of the leptin receptor. This study was designed to assess the role of this polymorphism in breast cancer susceptibility in Nigerian women. We utilized a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay to evaluate the association between the Gln223Arg polymorphism of the leptin receptor gene and breast risk in Nigeria in a case control study involving 209 women with breast cancer and 209 controls without the disease. Study participants were recruited from surgical outpatient clinics and surgical wards of four University Teaching Hospitals located in Midwestern and southeastern Nigeria between September 2002 and April 2004. Premenopausal women carrying at least one LEPR 223Arg allele were at a modestly increased risk of breast cancer after adjusting for confounders (OR = 1.8, 95% confidence interval [CI] 1.0–3.2, p = 0.07). There was no association with postmenopausal breast cancer risk (OR = 0.9, 95% CI 0.4–1.8, p = 0.68). Our results suggest that the LEPR Gln223Arg polymorphism in the extracellular domain of the LEPR receptor gene is associated with a modestly increased risk of premenopausal breast cancer in Nigerian women

  14. Pregnancy and postpartum control in HIV infected women

    Directory of Open Access Journals (Sweden)

    Eduardo M. Warley

    2017-04-01

    Full Text Available Pregnancy and postpartum control in HIV infected women. We present data from a retrospective observational descriptive study with the objective of evaluating characteristics of HIV-infected pregnant women, analyze the level of control of pregnancy and assess adherence to treatment and loss of follow up after delivery. We analyzed reported data of 104 pregnancies, 32.7% of them under 25 years old. The diagnosis was performed as part of pregnancy control in 36.5% of women. TARV started before 24 weeks of pregnancy in 70% of them and a regimen with 2 nucleos(tides and 1 ritonavir potenciated protease inhibitor (PIr was prescribed in 84.5%. Elective c-section was the most frequent mode of delivery. The viral load after 32 weeks of pregnancy was available in 82.7%, being less than 1000 cop/ml in 78 (75%, less than 200 cop/ml in 70 (67.3% and not available in 18 (17.3% of cases. We observed a considered high rate of adherence failure and loss of follow up after delivery. Reported data should alert programs on the need to implement strategies to promote early pregnancy control and increase adherence and retention in care, especially in the postpartum period

  15. [Pregnancy and postpartum control in HIV infected women].

    Science.gov (United States)

    Warley, Eduardo M; Tavella, Silvina; Rosas, Alejandra

    2017-01-01

    Pregnancy and postpartum control in HIV infected women. We present data from a retrospective observational descriptive study with the objective of evaluating characteristics of HIV-infected pregnant women, analyze the level of control of pregnancy and assess adherence to treatment and loss of follow up after delivery. We analyzed reported data of 104 pregnancies, 32.7% of them under 25 years old. The diagnosis was performed as part of pregnancy control in 36.5% of women. TARV started before 24 weeks of pregnancy in 70% of them and a regimen with 2 nucleos(t)ides and 1 ritonavir potenciated protease inhibitor (PIr) was prescribed in 84.5%. Elective c-section was the most frequent mode of delivery. The viral load after 32 weeks of pregnancy was available in 82.7%, being less than 1000 cop/ml in 78 (75%), less than 200 cop/ml in 70 (67.3%) and not available in 18 (17.3%) of cases. We observed a considered high rate of adherence failure and loss of follow up after delivery. Reported data should alert programs on the need to implement strategies to promote early pregnancy control and increase adherence and retention in care, especially in the postpartum period.

  16. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

    Science.gov (United States)

    Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van't Veer, Laura J; Atsma, Femke; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Renner, Stefan P; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Guénel, Pascal; Truong, Therese; Cordina, Emilie; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Milne, Roger; Zamora, M Pilar; Arias Perez, Jose Ignacio; Benitez, Javier; Bernstein, Leslie; Anton-Culver, Hoda; Ziogas, Argyrios; Clarke Dur, Christina; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Dieffenbach, Aida Karina; Meindl, Alfons; Heil, Joerg; Bartram, Claus R; Schmutzler, Rita K; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Dörk, Thilo; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Beesley, Jonathan; Wu, Anna H; Van den Berg, David; Tseng, Chiu-Chen; Lambrechts, Diether; Smeets, Dominiek; Neven, Patrick; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Pensotti, Valeria; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Haiman, Chris; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Soucy, Penny; Teo, Soo; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K; Kristensen, Vessela N; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Devillee, Peter; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Schoof, Nils; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier A; Tilanus-Linthorst, Madeleine; Liu, Jianjun; Cox, Angie; Brock, Ian W; Reed, Malcolm W R; Cross, Simon S; Blot, William; Signorello, Lisa B; Pharoah, Paul D P; Dunning, Alison M; Shah, Mitul; Kang, Daehee; Noh, Dong-Young; Park, Sue K; Choi, Ji-Yeob; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans Ulrich; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Slager, Susan; Toland, Amanda E; Vachon, Celine; Yannoukakos, Drakoulis; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; González-Neira, Anna; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Jean; Easton, Douglas F; García-Closas, Montserrat; Dowsett, Mitch; Ashworth, Alan; Swerdlow, Anthony J; Peto, Julian; dos Santos Silva, Isabel; Fletcher, Olivia

    2014-05-26

    We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics. We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P(trend) = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P(trend) = 0.005) but not cases (P(trend) = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P(het) = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR(het) = 0.84, 95% CI 0.75, 0.94; OR(hom) = 0.81, 95% CI 0.51, 1.30; P(trend) = 0.002) but not for those who had their menarche age ≤11 years (OR(het) = 1.06, 95% CI 0.95, 1.19, OR(hom) = 1.07, 95% CI 0.67, 1.72; P(trend) = 0.29). To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in

  17. Antral follicle count in normal (fertility-proven) and infertile Indian women.

    Science.gov (United States)

    Agarwal, Arjit; Verma, Ashish; Agarwal, Shubhra; Shukla, Ram Chandra; Jain, Madhu; Srivastava, Arvind

    2014-07-01

    Antral follicle count (AFC) has been labeled as the most accurate biomarker to assess female fecundity. Unfortunately, no baseline Indian data exists, and we continue using surrogate values from the Western literature (inferred from studies on women, grossly different than Indian women in morphology and genetic makeup). (1) To establish the role of AFC as a function of ovarian reserve in fertility-proven and in subfertile Indian women. (2) To establish baseline cut-off AFC values for Indian women. Prospective observational case-control study. Thirty patients undergoing workup for infertility were included and compared to equal number of controls (women with proven fertility). The basal ovarian volume and AFC were measured by endovaginal. USG the relevant clinical data and hormonal assays were charted for every patient. SPSS platform was used to perform the Student's t-test and Mann-Whitney U-test for intergroup comparisons. Correlations were determined by Pearson's ranked correlation coefficient. Regression analysis revealed the highest correlation of AFC and age in fertile and infertile patients with difference in mean AFC of both the groups. Comparison of the data recorded for cases and controls showed no significant difference in the mean ovarian volume. AFC has the closest association with chronological age in normal and infertile Indian women. The same is lower in infertile women than in matched controls. Baseline and cut-off values in Indian women are lower than that mentioned in the Western literature.

  18. Women-specific risk factors for heart failure: A genetic approach.

    Science.gov (United States)

    van der Kemp, Jet; van der Schouw, Yvonne T; Asselbergs, Folkert W; Onland-Moret, N Charlotte

    2018-03-01

    Heart failure is a complex disease, which is presented differently by men and women. Several studies have shown that reproductive factors, such as age at natural menopause, parity and polycystic ovarian syndrome (PCOS), may play a role in the development of heart failure. Shared genetics may provide clues to underlying mechanisms; however, this has never been examined. Therefore, the aim of the current study was to explore whether any reproductive factor is potentially related to heart failure in women, based on genetic similarities. Conducting a systematic literature review, single nucleotide polymorphisms (SNPs) associated with reproductive factors, heart failure and its risk factors were extracted from recent genome-wide association studies. We tested whether there was any overlap between the SNPs and their proxies of reproductive risk factors with those known for heart failure or its risk factors. In total, 520 genetic variants were found that are associated with reproductive factors, namely age at menarche, age at natural menopause, menstrual cycle length, PCOS, preeclampsia, preterm delivery and spontaneous dizygotic twinning. For heart failure and associated phenotypes, 25 variants were found. Genetic variants for reproductive factors did not overlap with those for heart failure. However, age at menarche, gestational diabetes and PCOS were found to be genetically linked to risk factors for heart failure, such as atrial fibrillation, diabetes and smoking. Corresponding implicated genes, such as TNNI3K, ErbB3, MKL2, MTNR1B and PRKD1, may explain the associations between reproductive factors and heart failure. Exact effector mechanisms of these genes remain to be investigated further. Copyright © 2017. Published by Elsevier B.V.

  19. Temperament and character associated with depressive symptoms in women: analysis of two genetically informative samples.

    Science.gov (United States)

    Yuh, Jongil; Neiderhiser, Jenae M; Lichtenstein, Paul; Hansson, Kjell; Cederblad, Marianne; Elthammer, Olle; Reiss, David

    2009-09-01

    Although previous research has explored associations between personality and depressive symptoms, a limited number of studies have assessed the extent to which genetic and environmental influences explain the association. This study investigated how temperament and character were associated with depressive symptoms in 131 pairs of twin and sibling women in early adulthood, as well as 326 pairs of twin women in middle adulthood. Results indicated that genetic influences accounted for a moderate to substantial percentage of the association between these personality features and depressive symptoms, emphasizing the role of genetic influences. Nonshared environmental influences made important contributions to the association between character and depressive symptoms, particularly in the sample of middle-aged twin women. These findings suggest that unique social experiences and relationships with a partner in adulthood may play an important role in these associations between character and depressive symptoms.

  20. Risk Factors for Breast Cancer among Indian Women: A Case ...

    African Journals Online (AJOL)

    2018-04-04

    Apr 4, 2018 ... factors for carcinoma breast among Indian women. ... to be age, diet, waist size, hip size, waist‑hip ratio (WHR), body mass index, .... The Breast Cancer Risk Assessment Tool is based on a ... drinking, low physical activity, obesity, or environmental ... All the cases and controls who satisfied the inclusion.

  1. Risk factors for venous thromboembolism in pre-and postmenopausal women.

    Science.gov (United States)

    Bergendal, Annica; Bremme, Katarina; Hedenmalm, Karin; Lärfars, Gerd; Odeberg, Jacob; Persson, Ingemar; Sundström, Anders; Kieler, Helle

    2012-10-01

    Hemostasis in women is affected by changes of estrogen levels. The role of endogenous estrogens on risk of venous thromboembolism (VTE) remains unclear. The aim of this study was to investigate the importance of acquired and genetic risk factors for VTE in pre-and postmenopausal women. In a nationwide case-control study we included as cases 1470 women, 18 to 64years of age with a first time VTE. The 1590 controls were randomly selected and matched by age to the cases. Information on risk factors was obtained by interviews and DNA-analyses. We used unconditional logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs). The ORs were generally of similar magnitude in pre- and postmenopausal women. The highest risk was for the combination of surgery and cast (adjusted OR 54.12, 95% CI 16.62-176.19) in postmenopausal women. The adjusted OR for use of menopausal hormone therapy was 3.73 (95% CI 1.86-7.50) in premenopausal and 2.22 (95% CI 1.54-3.19) in postmenopausal women. Overweight was linked to an increased risk and exercise to a decreased risk, regardless of menopausal status. Menopausal status had only minor influence on the risk levels. Acquired transient risk factors conveyed the highest risks for VTE. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. Correlation of Serum Lipoprotein Ratios with Insulin Resistance in Infertile Women with Polycystic Ovarian Syndrome: A Case Control Study

    Directory of Open Access Journals (Sweden)

    Aisa Ghaffarzad

    2016-05-01

    Full Text Available Background: Dyslipidemia and insulin resistance (IR, occurring in most infertile women with polycystic ovarian syndrome (PCOS, increase the risk of cardiovascular disease (CVD and type 2 diabetes. This study aimed to assess the relationships between lipoprotein ratios and IR in PCOS women. Materials and Methods: Thirty six infertile women with PCOS selected based on Androgen Excess Society (AES criteria and 29 healthy women matched for age were recruited to this case-control study. After physical measurements, fasting serum glucose (Glu, insulin and lipid profile levels [triglycerides (TGs, total cholesterol (TC, low-density lipoproteincholesterol (LDL-C and high-density lipoprotein-cholesterol (HDL-C] were measured, while lipoprotein ratios (TC/HDL-C, LDL-C/HDL-C, TG/HDL-C were calculated. IR was also calculated using homeostasis model assessment (HOMA-IR. The optimal cutoffs of lipoprotein ratios in relation to HOMA-IR were calculated based on the Receiver Operating Characteristics (ROC curve analysis using the area under curve (AUC. Results: Waist circumference (WC, insulin levels, HOMA-IR, TG levels, and all lipoprotein ratios were significantly higher, while HDL-C was lower in PCOS group as compared to healthy controls. All lipoprotein ratios, TG levels, and WC are significantly correlated with insulin levels and HOMA-IR. Among lipoprotein ratios, the highest AUC of the ROC belonged to TG/HDL-C ratio with sensitivity of 63.6% and specificity of 84.4% (TG/HDL-C>3.19 as a marker of IR in infert ile PCOS women. Conclusion: Lipoprotein ratios, particularly TG/HDL-C, are directly correlated with insulin levels and can be used as a marker of IR (HOMA-IR in infertile PCOS patients.

  3. Correlation of Serum Lipoprotein Ratios with Insulin Resistance in Infertile Women with Polycystic Ovarian Syndrome: A Case Control Study.

    Science.gov (United States)

    Ghaffarzad, Aisa; Amani, Reza; Mehrzad Sadaghiani, Mahzad; Darabi, Masoud; Cheraghian, Bahman

    2016-01-01

    Dyslipidemia and insulin resistance (IR), occurring in most infertile women with polycystic ovarian syndrome (PCOS), increase the risk of cardiovascular disease (CVD) and type 2 diabetes. This study aimed to assess the relationships between lipoprotein ratios and IR in PCOS women. Thirty six infertile women with PCOS selected based on Androgen Excess Society (AES) criteria and 29 healthy women matched for age were recruited to this case-control study. After physical measurements, fasting serum glucose (Glu), insulin and lipid profile levels [triglycerides (TGs), total cholesterol (TC), low-density lipoproteincholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C)] were measured, while lipoprotein ratios (TC/HDL-C, LDL-C/HDL-C, TG/HDL-C) were calculated. IR was also calculated using homeostasis model assessment (HOMA)-IR. The optimal cutoffs of lipoprotein ratios in relation to HOMA-IR were calculated based on the Receiver Operating Characteristics (ROC) curve analysis using the area under curve (AUC). Waist circumference (WC), insulin levels, HOMA-IR, TG levels, and all lipoprotein ratios were significantly higher, while HDL-C was lower in PCOS group as compared to healthy controls. All lipoprotein ratios, TG levels, and WC are significantly correlated with insulin levels and HOMA-IR. Among lipoprotein ratios, the highest AUC of the ROC belonged to TG/HDL-C ratio with sensitivity of 63.6% and specificity of 84.4% (TG/HDL-C>3.19) as a marker of IR in infertile PCOS women. Lipoprotein ratios, particularly TG/HDL-C, are directly correlated with insulin levels and can be used as a marker of IR (HOMA-IR) in infertile PCOS patients.

  4. A case-control study of lifestyle and lung cancer associations by histological types.

    Science.gov (United States)

    Kubik, A; Zatloukal, P; Tomasek, L; Dolezal, J; Syllabova, L; Kara, J; Kopecky, P; Plesko, I

    2008-01-01

    The objective of the study was to investigate the contribution of dietary factors and physical exercise to the variation in the risk of lung cancer and its major histological types among men and women in the Czech Republic, and reveal interactions between smoking and diet/physical exercise, if any. In a hospital based case-control study, data collected by in-person interviews from 1096 microscopically confirmed lung cancer cases (587 women, 509 men) and 2966 controls were analyzed using unconditional logistic regression stratified by appropriate factors. Among all nonsmoking women protective effects were observed for black tea (OR=0.69), among all smoking women for wine (OR=0.71), physical exercise (OR=0.64) and vitamin supplements (OR=0.71). Among all men, inverse associations were found in smokers between lung cancer risk and frequent intake of fruits (OR=0.69) or moderate intake of spirits (OR=0.64), and a direct association for fat foods (OR=1.68). Comparing the effects of diet/physical activity on lung cancer risk among nonsmokers versus smokers, interactions with smoking appeared for the intake of black tea and milk/dairy products among women, and for moderate intake of spirits in men. When the effects of diet/physical exercise on risk were analyzed by major cell types in women, the intake of wine and physical exercise were inversely associated with the risk of both adenocarcinoma and small cell cancer, the intakes of fruits and vitamin supplements were inversely associated with the risk of squamous cell cancer. In men, the intake of fat foods was directly associated with the risk of squamous cell cancer, while the frequent intake of apples was inversely associated with the risk of both squamous- and small cell cancers. In men an inverse association with the risk of squamous cell cancer was found for the intake of other fruits. These data suggest that diet/physical exercise may affect the risk of lung cancer and major cell types, and that interactions between

  5. Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study

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    Sorkin John D

    2008-08-01

    Full Text Available Abstract Background Although cigarette smoking is a well-established risk factor for vascular disease, the genetic mechanisms that link cigarette smoking to an increased incidence of stroke are not well understood. Genetic variations within the genes of the inflammatory pathways are thought to partially mediate this risk. Here we evaluate the association of several inflammatory gene single nucleotide polymorphisms (SNPs with ischemic stroke risk among young women, further stratified by current cigarette smoking status. Methods A population-based case-control study of stroke among women aged 15–49 identified 224 cases of first ischemic stroke (47.3% African-American and 211 age-comparable control subjects (43.1% African-American. Several inflammatory candidate gene SNPs chosen through literature review were genotyped in the study population and assessed for association with stroke and interaction with smoking status. Results Of the 8 SNPs (across 6 genes analyzed, only IL6 SNP rs2069832 (allele C, African-American frequency = 92%, Caucasian frequency = 55% was found to be significantly associated with stroke using an additive model, and this was only among African-Americans (age-adjusted: OR = 2.2, 95% CI = 1.0–5.0, p = 0.049; risk factor adjusted: OR = 2.5, 95% CI = 1.0–6.5, p = 0.05. When stratified by smoking status, two SNPs demonstrated statistically significant gene-environment interactions. First, the T allele (frequency = 5% of IL6 SNP rs2069830 was found to be protective among non-smokers (OR = 0.30, 95% CI = 0.11–.082, p = 0.02, but not among smokers (OR = 1.63, 95% CI = 0.48–5.58, p = 0.43; genotype by smoking interaction (p = 0.036. Second, the C allele (frequency = 39% of CD14 SNP rs2569190 was found to increase risk among smokers (OR = 2.05, 95% CI = 1.09–3.86, p = 0.03, but not among non-smokers (OR = 0.93, 95% CI = 0.62–1.39, p = 0.72; genotype by smoking interaction (p = 0.039. Conclusion This study demonstrates

  6. Neck circumference might predict gestational diabetes mellitus in Han Chinese women: A nested case-control study.

    Science.gov (United States)

    He, Fang; He, Hua; Liu, Wenqi; Lin, Junyu; Chen, Bingjun; Lin, Yucong; Zhao, Yitao; Tao, Wen; Xia, Xuefeng

    2017-03-01

    A large neck circumference might be an indicator of metabolic syndrome and its components, and for certain patients is more practical as an index than waist circumference. The demarcation value for neck circumference that suggests metabolic syndrome appears to vary by ethnic group. Gestational diabetes mellitus is considered a component of metabolic syndrome in pregnant women. We investigated whether neck circumference in Han Chinese women is associated with gestational diabetes mellitus in early pregnancy, and determined a predictive demarcation value. A nested case-control study was carried out with 255 women aged 18-35 years. Gestational diabetes mellitus was diagnosed according to the criteria of the American Diabetes Association through a 2-h, 75-g oral glucose tolerance test. Of the total population, 41 (16%) women developed gestational diabetes mellitus by 24-28 weeks of gestation. Neck circumference at gestational week 16 positively correlated with pre-pregnancy waist circumference, bodyweight and body mass index, and maternal age (P = 0.029) and hemoglobin A1c at gestational week 24 (P ≤ 0.001). By binary logistic regression, neck circumference was an independent predictor of gestational diabetes mellitus (odds ratio 1.840, 95% confidence interval 1.040-3.254; P = 0.036). According to the receiver operating characteristic curve, for predicting gestational diabetes mellitus the optimal demarcation for neck circumference at gestational week 16 was 35.15 cm. Neck circumference is a viable tool to screen for gestational diabetes mellitus. In this population of pregnant Han Chinese women, a neck circumference of ≥35.15 cm was a predictor of gestational diabetes mellitus. © 2016 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

  7. Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

    Science.gov (United States)

    Chung, Sun Ju; Armasu, Sebastian M; Anderson, Kari J; Biernacka, Joanna M; Lesnick, Timothy G; Rider, David N; Cunningham, Julie M; Ahlskog, J Eric; Frigerio, Roberta; Maraganore, Demetrius M

    2013-06-01

    Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism. Genome-wide association studies have demonstrated association of single nucleotide polymorphisms (SNPs) in those three genes with sporadic Parkinson's disease (PD) susceptibility worldwide. Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility. Pairwise interactions between environmental exposures and 18 variants (16 SNPs and two variable number tandem repeats, or "VNTRs") in SNCA, MAPT and LRRK2, were investigated using data from 1098 PD cases from the upper Midwest, USA and 1098 matched controls. Environmental exposures were assessed using a validated telephone interview script. Five pairwise interactions had uncorrected P-values coffee drinking × MAPT H1/H2 haplotype or MAPT rs16940806, and alcohol drinking × MAPT rs2435211. None of these interactions remained significant after Bonferroni correction. Secondary analyses in strata defined by type of control (sibling or unrelated), sex, or age at onset of the case also did not identify significant interactions after Bonferroni correction. This study documented limited pairwise interactions between established genetic and environmental risk factors for PD; however, the associations were not significant after correction for multiple testing. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Selection of controls in case-control studies on maternal medication use and risk of birth defects

    NARCIS (Netherlands)

    Bakker, M.K.; de Walle, H.E.; Dequito, A.; van den Berg, P.B.; de Jong-van den Berg, L.T.

    BACKGROUND:: In case-control studies on teratogenic risks of maternal drug use during pregnancy, the use of normal or malformed controls may lead to recall-bias or selection bias. This can be avoided by using controls with a genetic disorder. However, researchers are hesitant to use these as

  9. Genetic liability to disability pension in women and men: a prospective population-based twin study.

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    Jurgita Narusyte

    Full Text Available BACKGROUND: Previous studies of risk factors for disability pension (DP have mainly focused on psychosocial, or environmental, factors, while the relative importance of genetic effects has been less studied. Sex differences in biological mechanisms have not been investigated at all. METHODS: The study sample included 46,454 Swedish twins, consisting of 23,227 complete twin pairs, born 1928-1958, who were followed during 1993-2008. Data on DP, including diagnoses, were obtained from the National Social Insurance Agency. Within-pair similarity in liability to DP was assessed by calculating intraclass correlations. Genetic and environmental influences on liability to DP were estimated by applying discrete-time frailty modeling. RESULTS: During follow-up, 7,669 individuals were granted DP (18.8% women and 14.1% men. Intraclass correlations were generally higher in MZ pairs than DZ pairs, while DZ same-sexed pairs were more similar than opposite-sexed pairs. The best-fitting model indicated that genetic factors contributed 49% (95% CI: 39-59 to the variance in DP due to mental diagnoses, 35% (95% CI: 29-41 due to musculoskeletal diagnoses, and 27% (95% CI: 20-33 due to all other diagnoses. In both sexes, genetic effects common to all ages explained one-third, whereas age-specific factors almost two-thirds, of the total variance in liability to DP irrespective of diagnosis. Sex differences in liability to DP were indicated, in that partly different sets of genes were found to operate in women and men, even though the magnitude of genetic variance explained was equal for both sexes. CONCLUSIONS: The findings of the study suggest that genetic effects are important for liability to DP due to different diagnoses. Moreover, genetic contributions to liability to DP tend to differ between women and men, even though the overall relative contribution of genetic influences does not differ by sex. Hence, the pathways leading to DP might differ between women and

  10. Study of environmental and genetic factors in children with craniosynostosis: A case-control study

    Science.gov (United States)

    Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranjan; Panda, Shasanka Shekhar

    2013-01-01

    Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. Materials and Methods: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. Results: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. Conclusion: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis. PMID:24082921

  11. Childhood Abuse Experiences and the COMT and MTHFR Genetic Variants Associated With Male Sexual Orientation in the Han Chinese Populations: A Case-Control Study.

    Science.gov (United States)

    Qin, Jia-Bi; Zhao, Guang-Lu; Wang, Feng; Cai, Yu-Mao; Lan, Li-Na; Yang, Lin; Feng, Tie-Jian

    2018-01-01

    Although it is widely acknowledged that genetic and environmental factors are involved in the development of male homosexuality, the causes are not fully understood. To explore the association and interaction of childhood abuse experiences and genetic variants of the catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes with the development of male homosexuality. A case-control study of 537 exclusively homosexual men and 583 exclusively heterosexual men was conducted, with data collected from March 2013 to August 2015. Data were analyzed using χ 2 tests and logistic regression models. Sociodemographic characteristics, childhood abuse experiences, and polymorphisms of COMT at rs4680, rs4818, and rs6267 and MTHFR at rs1801133. More frequent occurrence of physical (adjusted odds ratio [aOR] = 1.78), emotional (aOR = 2.07), and sexual (aOR = 2.53) abuse during childhood was significantly associated with the development of male homosexuality. The polymorphisms of MTHFR at rs1801133 and COMT at rs4818 also were significantly associated with the development of male homosexuality in the homozygote comparisons (T/T vs C/C at rs1801133, aOR = 1.68; G/G vs C/C at rs4818, aOR = 1.75). In addition, significant interaction effects between childhood abuse experiences and the COMT and MTHFR genetic variants on the development of male homosexuality were found. This is the first time that an association of childhood abuse, COMT and MTHFR genetic variants, and their interactions with development of male homosexuality was exhaustively explored, which could help provide new insight into the etiology of male homosexuality. Because homosexual men are a relatively obscure population, it was impossible to select the study participants by random sampling, which could lead to selection bias. In addition, because this was a case-control study, recall bias was inevitable, and we could not verify causality. Childhood abuse and the COMT and MTHFR genetic

  12. Role of nutrition in pre-eclampsia and eclampsia cases, a case control study

    Directory of Open Access Journals (Sweden)

    Punyatoya Bej

    2014-12-01

    Full Text Available Background: Preeclampsia and eclampsia during pregnancy contribute to maternal and fetal morbidity as well as mortality. The identification of the role of maternal nutrition during pregnancy will help in reducing morbidity and mortality. Aims & Objective: The objective of this study is to find out the role of nutrition, in the form of total calorie, protein, fruits, iron, folic acid and calcium intake in the development of preeclampsia and eclampsia among pregnant women in a tertiary level hospital. Material Methods: After ethical approval and informed consent, 122 women who delivered beyond 22 weeks of gestation and diagnosed as preeclampsia or eclampsia were selected. Simultaneously, 122 controls with no diagnosis of preeclampsia or eclampsia were selected from the post natal ward. Cases and controls were administered the same pre-tested questionnaire containing questions related to food and micronutrient intake by cases and control. Results: Logistic regression was applied in the statistical analysis. The factors that were found to be significant predictors of risk for development of preeclampsia and eclampsia were higher calorie intake (adjusted Odds Ratio (OR 14.12 [6.41-43.23] P < 0.001, less protein intake (adjusted OR 3.87 [1.97-8.01] P < 0.001 during pregnancy. Fruits intake in both cases and controls were similar. 77.9% of cases and 84.4% of controls had taken iron tablets during their antenatal period. 75.4% of cases and 82.8% of controls had taken calcium tablets during their antenatal period. Iron and calcium intake is not significantly associated with development of preeclampsia and eclampsia. Conclusion: Higher calorie intake and less protein intake during pregnancy were associated with development of preeclampsia and eclampsia. Fruits intake, iron and calcium intake were not associated with development of preeclampsia and eclampsia

  13. Intra- versus retroplacental hematomas: a retrospective case-control study on pregnancy outcomes.

    Science.gov (United States)

    Ott, Johannes; Pecnik, Philipp; Promberger, Regina; Pils, Sophie; Binder, Julia; Chalubinski, Kinga M

    2017-10-26

    Intrauterine hematomas are a common pregnancy complication. The literature lacks studies about outcomes based on hematoma localization. Thus, we aimed to compare pregnancies complicated by an intraplacental hematoma to cases with a retroplacental hematoma and to a control group. In a retrospective case-control study, 32 women with an intraplacental hematoma, 199 women with a retroplacental hematoma, and a control group consisting of 113 age-matched women with no signs of placental abnormalities were included. Main outcome measures were pregnancy complications. Second-trimester miscarriage was most common in the intraplacental hematoma group (9.4%), followed by women with a retroplacental hematoma (4.2%), and controls (0%; p = 0.007). The intraplacental hematoma group revealed the highest rates for placental insufficiency, intrauterine growth retardation, premature preterm rupture of membranes, preterm labor, preterm delivery hematoma group. When tested in multivariate models, intraplacental hematomas were independent predictors for placental insufficiency (ß = 4.19, p hematoma (p = 0.042). Intra- and retroplacental hematomas have different risk profiles for the affected pregnancy and act as independent risk factors.

  14. Clinical and psychological features of normal-weight women with subthreshold anorexia nervosa: a pilot case-control observational study.

    Science.gov (United States)

    Tagliabue, Anna; Ferraris, Cinzia; Martinelli, Valentina; Pinelli, Giovanna; Repossi, Ilaria; Trentani, Claudia

    2012-01-01

    Weight preoccupations have been frequently reported in normal-weight subjects. Subthreshold anorexia nervosa (s-AN, all DSM IV TR criteria except amenorrhea or underweight) is a form of eating disorder not otherwise specified that has received scarce scientific attention. Under a case-control design we compared the general characteristics, body composition, and psychopathological features of normal-weight patients with s-AN with those of BMI- and sex-matched controls. Participants in this pilot study included 9 normal-weight women who met the DSM IV TR criteria for s-AN and 18 BMI-matched normal-weight controls. The general characteristics of the study participants were collected by questionnaire. Body composition was measured by bioelectrical impedance. Behavioral and psychological measures included the standardized symptom checklist (SCL-90-R) and the eating disorder inventory (EDI-2). There were no differences in age, education, employment status, marital status, and history of previous slimming treatment in the two study groups. In addition, anthropometric measures and body composition of s-AN patients and BMI-matched normal weight controls were not significantly different. In the s-AN subgroup, we found a significant relationship between waist circumference and the SCL-90-R obsessivity-compulsivity scale (n=9, r=-0.69, pstudy cohort. These pilot results suggest that psychopathological criteria (particularly related to the obsessivity-compulsivity dimension) may be more useful than anthropometric measures for screening of s-AN in normal-weight women.

  15. Underscreened Women Remain Overrepresented in the Pool of Cervical Cancer Cases in Spain: A Need to Rethink the Screening Interventions.

    Science.gov (United States)

    Ibáñez, Raquel; Alejo, María; Combalia, Neus; Tarroch, Xavier; Autonell, Josefina; Codina, Laia; Culubret, Montserrat; Bosch, Francesc Xavier; de Sanjosé, Silvia

    2015-01-01

    Audit of women with invasive cervical cancer (CC) is critical for quality control within screening activities. We analysed the screening history in the 10 years preceding the study entry in women with and without CC during 2000-2011. 323 women with CC from six pathology departments in Catalonia (Spain) and 23,782 women with negative cytology were compared. Age, previous history of cytologies, and histological type and FIGO stage were collected from the pathology registries. Logistic regression analysis was used to estimate odds ratios (OR) and 95% confidence intervals (CI95%). History of cytology was registered in 26.2% of CC cases and in 78% of the control women (P < 0.0001) and its frequency decreased with increasing age. Compared to women with squamous cell carcinoma, adenocarcinoma cases were significantly more likely to have a cytology within the 3-year interval preceding cancer diagnosis (OR = 2.6 CI 95%: 1.2-5.6) and to have normal cytology results in previous screenings (OR = 2.4 CI 95%: 1.2-4.5). FIGO II-IV cases were more common among older women (older than 60 years). Absence of prior screening history was extremely common among CC cases compared to controls. Organized actions to reduce underscreened women and use of highly sensitive HPV-based tests could be important to reduce CC burden.

  16. Underscreened Women Remain Overrepresented in the Pool of Cervical Cancer Cases in Spain: A Need to Rethink the Screening Interventions

    Directory of Open Access Journals (Sweden)

    Raquel Ibáñez

    2015-01-01

    Full Text Available Objective. Audit of women with invasive cervical cancer (CC is critical for quality control within screening activities. We analysed the screening history in the 10 years preceding the study entry in women with and without CC during 2000–2011. Methods. 323 women with CC from six pathology departments in Catalonia (Spain and 23,782 women with negative cytology were compared. Age, previous history of cytologies, and histological type and FIGO stage were collected from the pathology registries. Logistic regression analysis was used to estimate odds ratios (OR and 95% confidence intervals (CI95%. Results. History of cytology was registered in 26.2% of CC cases and in 78% of the control women (P<0.0001 and its frequency decreased with increasing age. Compared to women with squamous cell carcinoma, adenocarcinoma cases were significantly more likely to have a cytology within the 3-year interval preceding cancer diagnosis (OR=2.6 CI 95%: 1.2–5.6 and to have normal cytology results in previous screenings (OR=2.4 CI 95%: 1.2–4.5. FIGO II–IV cases were more common among older women (older than 60 years. Conclusions. Absence of prior screening history was extremely common among CC cases compared to controls. Organized actions to reduce underscreened women and use of highly sensitive HPV-based tests could be important to reduce CC burden.

  17. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

    Science.gov (United States)

    Randall, Leslie M; Pothuri, Bhavana; Swisher, Elizabeth M; Diaz, John P; Buchanan, Adam; Witkop, Catherine T; Bethan Powell, C; Smith, Ellen Blair; Robson, Mark E; Boyd, Jeff; Coleman, Robert L; Lu, Karen

    2017-08-01

    To assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers. The Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing. The group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care. Copyright © 2017. Published by Elsevier Inc.

  18. Consumption of sweet foods and breast cancer risk: a case-control study of women on Long Island, New York.

    Science.gov (United States)

    Bradshaw, Patrick T; Sagiv, Sharon K; Kabat, Geoffrey C; Satia, Jessie A; Britton, Julie A; Teitelbaum, Susan L; Neugut, Alfred I; Gammon, Marilie D

    2009-10-01

    Several epidemiologic studies have reported a positive association between breast cancer risk and high intake of sweets, which may be due to an insulin-related mechanism. We investigated this association in a population-based case-control study of 1,434 cases and 1,440 controls from Long Island, NY. Shortly after diagnosis, subjects were interviewed in-person to assess potential breast cancer risk factors, and self-completed a modified Block food frequency questionnaire, which included 11 items pertaining to consumption of sweets (sweet beverages, added sugars, and various desserts) in the previous year. Using unconditional logistic regression models, we estimated the association between consumption of sweets and breast cancer. Consumption of a food grouping that included dessert foods, sweet beverages, and added sugars was positively associated with breast cancer risk [adjusted odds ratio (OR) comparing the highest to the lowest quartile: 1.27, 95% confidence interval (CI): 1.00-1.61]. The OR was slightly higher when only dessert foods were considered (OR: 1.55, 95% CI: 1.23-1.96). The association with desserts was stronger among pre-menopausal women (OR: 2.00, 95% CI: 1.32-3.04) than post-menopausal women (OR: 1.40, 95% CI: 1.07-1.83), although the interaction with menopause was not statistically significant. Our study indicates that frequent consumption of sweets, particularly desserts, may be associated with an increased risk of breast cancer. These results are consistent with other studies that implicate insulin-related factors in breast carcinogenesis.

  19. Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.

    NARCIS (Netherlands)

    Lan, Q.; Hsiung, C.A.; Matsuo, K.; Hong, Y.C.; Seow, A.; Wang, Z.; Hosgood, H.D.; Chen, K.; Wang, J.C.; Chatterjee, N.; Hu, W.; Wong, M.P.; Zheng, W.; Caporaso, N.; Park, J.Y.; Chen, C.J.; Kim, Y.H.; Kim, Y.T.; Landi, M.T.; Shen, H.; Lawrence, C.; Burdett, L.; Yeager, M.; Yuenger, J.; Jacobs, K.B.; Chang, I.S.; Mitsudomi, T.; Kim, H.N.; Chang, G.C.; Bassig, B.A.; Tucker, M.; Wei, F.; Yin, Y.; Wu, C.; An, S.J.; Qian, B.; Lee, V.H.; Lu, D.; Liu, J.; Jeon, H.S.; Hsiao, C.F.; Sung, J.S.; Kim, J.H.; Gao, Y.T.; Tsai, Y.H.; Jung, Y.J.; Guo, H.; Hu, Z.; Hutchinson, A.; Wang, W.C.; Klein, R.; Chung, C.C.; Oh, I.J.; Chen, K.Y.; Berndt, S.I.; He, X.; Wu, W.; Chang, J.; Zhang, X.C.; Huang, M.S.; Zheng, H.; Wang, J.; Zhao, X.|info:eu-repo/dai/nl/413577805; Li, Y.; Choi, J.E.; Su, W.C.; Park, K.H.; Sung, S.W.; Shu, X.O.; Chen, Y.M.; Liu, L.; Kang, C.H.; Hu, L.; Chen, C.H.; Pao, W.; Kim, Y.C.; Yang, T.Y.; Xu, J.; Guan, P.; Tan, W.; Su, J.; Wang, C.L.; Li, H.; Sihoe, A.D.; Zhao, Z.|info:eu-repo/dai/nl/304120995; Chen, Y.; Choi, Y.Y.; Hung, J.Y.; Kim, J.S.; Yoon, H.I.; Cai, Q.; Lin, C.C.; Park, I.K.; Xu, P.; Dong, J.; Kim, C.; He, Q; Perng, R.P.; Kohno, T.; Kweon, S.S.; Chen, C.Y.; Vermeulen, R.|info:eu-repo/dai/nl/216532620; Wu, J.; Lim, W.Y.; Chen, K.C.; Chow, W.H.; Ji, B.T.; Chan, J.K.; Chu, M.; Li, Y.J.; Yokota, J.; Li, J.; Chen, H.; Xiang, Y.B.; Yu, C.J.; Kunitoh, H.; Wu, G.; Jin, L.; Lo, Y.L.; Shiraishi, K.; Chen, Y.H.; Lin, H.C.; Wu, T.; WU, Y.; Yang, P.C.; Zhou, B.; Shin, M.H.; Fraumeni, J.F.; Lin, D.; Chanock, S.J.; Rothman, N.

    2012-01-01

    To identify common genetic variants that contribute to lung cancer susceptibility, we conducted a multistage genome-wide association study of lung cancer in Asian women who never smoked. We scanned 5,510 never-smoking female lung cancer cases and 4,544 controls drawn from 14 studies from mainland

  20. Symptoms of anxiety and depression during pregnancy and their association with low birth weight in Chinese women: a nested case control study.

    Science.gov (United States)

    Yang, Shaoping; Yang, Rong; Liang, Shengwen; Wang, Jing; Weaver, Nancy L; Hu, Ke; Hu, Ronghua; Trevathan, Edwin; Huang, Zhen; Zhang, Yiming; Yin, Ting; Chang, Jen Jen; Zhao, Jinzhu; Shen, Longjiao; Dong, Guanghui; Zheng, Tongzhang; Xu, Shunqing; Qian, Zhengmin; Zhang, Bin

    2017-04-01

    This study is a nested case control study from a population-based cohort study conducted in Wuhan, China. The aim is to estimate the association between symptoms of depression during pregnancy (DDP), anxiety during pregnancy(ADP), and depression with anxiety during pregnancy (DADP) and low birth weight (LBW) and to examine the extent to which preterm birth (PTB) moderates these associations. Logistic regression analyses were used to model associations between DDP, ADP, and DADP and LBW. Models were stratified by the presence or absence of PTB to examine moderating effects. From the cohort study, 2853 had a LBW baby (cases); 5457 pregnant women served as controls. Women with DDP or ADP only were not at higher risk of having a LBW baby, but DADP was associated with increased risk of LBW (crude OR 1.41, 95% CI 1.17-1.70; adjusted OR 1.29, 95% CI 1.07-1.57), and the significant association was particularly evident between DADP and LBW in PTB, but not in full-term births. Our data suggests that DADP is related to an increased risk of LBW and that this association is most present in PTBs.

  1. Incidence of fetal chromosome abnormalities in 2264 low-risk women

    DEFF Research Database (Denmark)

    Tabor, A; Philip, J

    1987-01-01

    Among a population of 6305 pregnant women, aged 25 to 34 years and estimated to be at no increased risk of genetic disease in the fetus, 4606 women participated in a randomized controlled trial of genetic amniocentesis between 1980 and 1984. In the study group having amniocentesis (2264 women), 23...

  2. Percentage height of center of mass is associated with the risk of falls among elderly women: A case-control study.

    Science.gov (United States)

    Almeida, Cláudio W L; Castro, Charlles H M; Pedreira, Paulo G; Heymann, Roberto E; Szejnfeld, Vera L

    2011-06-01

    Falls are a serious health problem for aged people, causing social and economic burden. Despite being an important determinant of balance, the positioning of the center of mass (COM) has not been evaluated as a risk factor for falls. This study examined the association between the percentage height of COM (%COM) and the risk of falls in the elderly. Healthy women aged 60 years and older were consecutively selected in a case-control study. Forty-eight individuals classified as "fallers" (having suffered two or more falls in the previous year) were the cases while 48 age and weight-matched women with one fall or no falls in the previous year were the controls ("non-fallers"). Body composition and bone mineral density (BMD) by DXA, 30-second chair stand test, abdominal circumference, Berg's balance scale and %COM using the reaction board method were evaluated in all participants. Body composition parameters were not significantly different between groups. Spine and hip BMD tended to be lower in the fallers, but the difference was significant only at the femoral neck (0.80±0.10g/cm(2) versus 0.87±0.76g/cm(2); pfalls. Further work is needed in order to determine the value of board reaction measurements in a clinical setting to identify patients at high risk. Copyright © 2011 Elsevier B.V. All rights reserved.

  3. Death of a son is associated with risk of suicide among parous women in Taiwan: a nested case-control study.

    Science.gov (United States)

    Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

    2012-01-01

    The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identified and 2701 controls were randomly selected. Multiple logistic regression was used to estimate the risk of suicide associated with the death of a child. The adjusted odds ratios (ORs) for suicide among mothers whose son had died were 2.60 (95% CI = 1.18-5.73), 2.58 (1.28-5.20), and 4.20 (0.79-22.45) for death of a son aged younger than 1 year, 1 to 17 years, and 18 years or older. The ORs for suicide associated with the death of a daughter were not statistically significant: the respective adjusted ORs were 1.86 (0.82-4.62), 1.38 (0.54-3.49), and 2.48 (0.40-15.51). The death of a child, especially a son, increased the risk of maternal suicide, which supports the notion that preference for a son is firmly rooted in traditional Chinese culture.

  4. Genetic Polymorphisms of TGFB1, TGFBR1, SNAI1 and TWIST1 Are Associated with Endometrial Cancer Susceptibility in Chinese Han Women.

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    Li Yang

    Full Text Available Endometrial cancer (EC is a complex disease involving multiple gene-gene and gene-environment interactions. TGF-β signaling plays pivotal roles in EC development. This study aimed to investigate whether the genetic polymorphisms of TGF-β signaling related genes TGFB1, TGFBR1, SNAI1 and TWIST1 contribute to EC susceptibility. Using the TaqMan Genotyping Assay, 19 tagging-SNPs of these four genes were genotyped in 516 EC cases and 707 controls among Chinese Han women. Logistic regression (LR showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend < 0.0001. Classification and regression tree (CART demonstrated that women carrying both the genotypes of TGFBR1 rs6478974 TT and rs10512263 TC/CC had the highest risk of EC (aOR = 7.86, 95% CI = 3.42-18.07, P<0.0001. Multifactor dimensionality reduction (MDR revealed that TGFB1 rs1800469 plus TGFBR1 rs6478974 was the best interactional model to detect EC risk. LR, CART and MDR all revealed that TGFBR1 rs6478974 was the most important protective locus for EC. In haplotype association study, TGFBR1 haplotype CACGA carrier showed the lowest EC risk among women with longer menarche-first full term pregnancy intervals (˃11 years and BMI˂24 (aOR = 0.39, 95% CI = 0.17-0.90, P = 0.0275. These results suggest that polymorphisms in TGFB1, TGFBR1, SNAI1 and TWIST1 may modulate EC susceptibility, both separately and corporately.

  5. A Case-Control Study Indicates that no Association Exists Between Polymorphisms of IL-33 and IL-1RL1 and Preeclampsia

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    Xiaoyan Ren

    2016-03-01

    Full Text Available Background/Aims: Preeclampsia (PE is a systemic inflammatory response syndrome involving varieties of cytokines, and previous studies have shown that IL-33 and its receptor IL-1RL1 play pivotal roles in the development of it. As a polygenetic hereditary disease, it is necessary to study the gene analysis for PE. Therefore, the present study was to determine whether IL-33 rs3939286 and IL-1RL1 rs13015714 associated with susceptibility to PE in Chinese Han women. Methods: 1,031 PE patients and 1,298 controls were enrolled and the genotyping for rs3939286 in IL-33 and rs13015714 in IL-1RL1 was performed by TaqMan allelic discrimination real-time PCR. Hardy-Weinberg equilibrium (HWE was examined to ensure the group representativeness and Pearson's chi-square test was used to compare the differences in genetic distributions between the two groups. Results: No significant differences in genotypic and allelic frequencies of the two polymorphisms loci were observed between cases and controls. There were also no significant differences in genetic distributions between mild/severe and early/late-onset PE and control groups. Conclusion: Although our data suggested that the polymorphisms of IL-33 rs3939286 and IL-1RL1 rs13015714 might not be critical risk factors for PE in Chinese Han women, the results need to be validated in different nations.

  6. A population-based survey in Australia of men's and women's perceptions of genetic risk and predictive genetic testing and implications for primary care.

    Science.gov (United States)

    Taylor, S

    2011-01-01

    Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services. This article aims to report population-based attitudes and discuss their relevance to integrating genetic services in primary health contexts. Men's and women's attitudes were investigated via population-based omnibus telephone survey in Queensland, Australia. Randomly selected adults (n = 1,230) with a mean age of 48.8 years were interviewed regarding perceptions of genetic determinants of health; benefits of genetic testing that predict 'certain' versus 'probable' future illness; and concern, if any, regarding potential misuse of genetic test information. Most (75%) respondents believed genetic factors significantly influenced health status; 85% regarded genetic testing positively although attitudes varied with age. Risk-based information was less valued than certainty-based information, but women valued risk information significantly more highly than men. Respondents reported 'concern' (44%) and 'no concern' (47%) regarding potential misuse of genetic information. This study contributes important population-based data as most research has involved selected individuals closely impacted by genetic disorders. While community attitudes were positive regarding genetic testing, genetic literacy is important to establish. The nature of gender differences regarding risk perception merits further study and has policy and service implications. Community concern about potential genetic discrimination must be addressed if health benefits of testing are to be maximised. Larger questions remain in scientific, policy, service delivery, and professional practice domains before predictive testing for common disorders is efficacious in mainstream health care. Copyright © 2011 S. Karger AG, Basel.

  7. Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.

    Science.gov (United States)

    Alg, Varinder S; Ke, Xiayi; Grieve, Joan; Bonner, Stephen; Walsh, Daniel C; Bulters, Diederik; Kitchen, Neil; Houlden, Henry; Werring, David J

    2018-01-15

    Abnormalities in Matrix Metalloproteinase (MMP) genes, which are important in extracellular matrix (ECM) maintenance and therefore arterial wall integrity are a plausible underlying mechanism of intracranial aneurysm (IA) formation, growth and subsequent rupture. We investigated whether the rs243865 C > T SNP (single nucleotide polymorphism) within the MMP-2 gene (which influences gene transcription) is associated with IA compared to matched controls. We conducted a case-control genetic association study, adjusted for known IA risk factors (smoking and hypertension), in a UK Caucasian population of 1409 patients with intracranial aneurysms (IA), and 1290 matched controls, to determine the association of the rs243865 C > T functional MMP-2 gene SNP with IA (overall, and classified as ruptured and unruptured). We also undertook a meta-analysis of two previous studies examining this SNP. The rs243865 T allele was associated with IA presence in univariate (OR 1.18 [95% CI 1.04-1.33], p = .01) and in multi-variable analyses adjusted for smoking and hypertension status (OR 1.16 [95% CI 1.01-1.35], p = .042). Subgroup analysis demonstrated an association of the rs243865 SNP with ruptured IA (OR 1.18 [95% CI 1.03-1.34] p = .017), but, not unruptured IA (OR 1.17 [95% CI 0.97-1.42], p = .11). Our study demonstrated an association between the functional MMP-2 rs243865 variant and IAs. Our findings suggest a genetic role for altered extracellular matrix integrity in the pathogenesis of IA development and rupture.

  8. Intersection signal control multi-objective optimization based on genetic algorithm

    Directory of Open Access Journals (Sweden)

    Zhanhong Zhou

    2014-04-01

    Full Text Available A signal control intersection increases not only vehicle delay, but also vehicle emissions and fuel consumption in that area. Because more and more fuel and air pollution problems arise recently, an intersection signal control optimization method which aims at reducing vehicle emissions, fuel consumption and vehicle delay is required heavily. This paper proposed a signal control multi-object optimization method to reduce vehicle emissions, fuel consumption and vehicle delay simultaneously at an intersection. The optimization method combined the Paramics microscopic traffic simulation software, Comprehensive Modal Emissions Model (CMEM, and genetic algorithm. An intersection in Haizhu District, Guangzhou, was taken for a case study. The result of the case study shows the optimal timing scheme obtained from this method is better than the Webster timing scheme.

  9. A pilot randomized, controlled trial of metformin versus insulin in women with type 2 diabetes mellitus during pregnancy.

    Science.gov (United States)

    Refuerzo, Jerrie S; Gowen, Rose; Pedroza, Claudia; Hutchinson, Maria; Blackwell, Sean C; Ramin, Susan

    2015-02-01

    Few studies support oral diabetic treatment in pregnant women with type 2 diabetes mellitus (T2DM). The objective of this study was to compare the effects of metformin versus insulin on achieving glycemic control and improving maternal and neonatal outcomes in pregnant women with T2DM. A pilot randomized, controlled trial was conducted of metformin versus insulin for the treatment of T2DM during pregnancy. The primary outcome was glycemic control measured with hemoglobin A1c metformin and 11 received insulin. All women in both groups achieved glycemic control by delivery (HgbA1c: metformin 5.96 ± 5.88 vs. insulin 6.34 ± 0.92%). There were similar rates of cesarean delivery, birth weights, neonatal intensive care unit admissions, respiratory distress syndrome, and neonatal dextrose treatment between groups. There was one case of fetal macrosomia in the insulin group, one case of shoulder dystocia in the metformin group and no cases of failed metformin therapy. In this pilot study, glycemic control was achieved in women who received metformin and insulin. Larger studies are needed to determine whether metformin can be considered a reasonable alternative to insulin in pregnant women with T2DM. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

    Science.gov (United States)

    Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane

    2017-10-01

    Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.

  11. Application of medical cases in general genetics teaching in universities.

    Science.gov (United States)

    He, Zhumei; Bie, Linsai; Li, Wei

    2018-01-20

    General genetics is a core course in life sciences, medicine, agriculture and other related fields. As one of the most fast-developing disciplines of life sciences in the 21th century, the influence of the genetics knowledge on daily life is expanding, especially on human health and reproduction. In order to make it easier for students to understand the profound principles of genetics and to better apply the theories to daily life, we have introduced appropriate medical cases in general genetics teaching and further extended them combined with theoretical basis of genetics. This approach will be beneficial to enhance students' abilities of genetic analysis and promote their enthusiasm to learn and master practical skills. In this paper, we enumerate medical cases related to the modern genetics teaching system to provide a reference for genetics teaching in general and normal universities.

  12. Risk factors of breast cancer among women in eastern India: a tertiary hospital based case control study.

    Science.gov (United States)

    Das, Soumen; Sen, Santanu; Mukherjee, Anindya; Chakraborty, Debadatta; Mondal, Pankaj Kumar

    2012-01-01

    Breast cancer is one of the most common cancers of women in India with high fatality rate. Over a 1 year study period 105 consecutive biopsy or fine needle aspiration cytology confirmed breast cancer patients were interviewed by direct questionnaire method regarding risk factors attending Surgery and Radiotherapy OPD of Medical College Kolkata, West Bengal while taking other 105 patients attending Surgery Department for some other disease as controls. The data were compiled in MS Excel 2007 and analyzed by Epi info 3.5.1 software. Among the cases, rural residence, illiteracy and low socio-economic status was significantly higher than controls. Late onset of menarche, late onset of menopause, ever OCP usage, breast feeding for 1-2 years and age of 1st childbirth between 20-30 years were found to be significant protective factors. People should be made aware regarding the modifiable risk factors to prevent breast cancer.

  13. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

    Science.gov (United States)

    Clyde, Merlise A.; Palmieri Weber, Rachel; Iversen, Edwin S.; Poole, Elizabeth M.; Doherty, Jennifer A.; Goodman, Marc T.; Ness, Roberta B.; Risch, Harvey A.; Rossing, Mary Anne; Terry, Kathryn L.; Wentzensen, Nicolas; Whittemore, Alice S.; Anton-Culver, Hoda; Bandera, Elisa V.; Berchuck, Andrew; Carney, Michael E.; Cramer, Daniel W.; Cunningham, Julie M.; Cushing-Haugen, Kara L.; Edwards, Robert P.; Fridley, Brooke L.; Goode, Ellen L.; Lurie, Galina; McGuire, Valerie; Modugno, Francesmary; Moysich, Kirsten B.; Olson, Sara H.; Pearce, Celeste Leigh; Pike, Malcolm C.; Rothstein, Joseph H.; Sellers, Thomas A.; Sieh, Weiva; Stram, Daniel; Thompson, Pamela J.; Vierkant, Robert A.; Wicklund, Kristine G.; Wu, Anna H.; Ziogas, Argyrios; Tworoger, Shelley S.; Schildkraut, Joellen M.

    2016-01-01

    Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted. PMID:27698005

  14. Fine mapping of genetic polymorphisms of pulmonary tuberculosis within chromosome 18q11.2 in the Chinese population: a case-control study

    Directory of Open Access Journals (Sweden)

    Dai Yaoyao

    2011-10-01

    Full Text Available Abstract Background Recently, one genome-wide association study identified a susceptibility locus of rs4331426 on chromosome 18q11.2 for tuberculosis in the African population. To validate the significance of this susceptibility locus in other areas, we conducted a case-control study in the Chinese population. Methods The present study consisted of 578 cases and 756 controls. The SNP rs4331426 and other six tag SNPs in the 100 Kbp up and down stream of rs4331426 on chromosome 18q11.2 were genotyped by using the Taqman-based allelic discrimination system. Results As compared with the findings from the African population, genetic variation of the SNP rs4331426 was rare among the Chinese. No significant differences were observed in genotypes or allele frequencies of the tag SNPs between cases and controls either before or after adjusting for age, sex, education, smoking, and drinking history. However, we observed strong linkage disequilibrium of SNPs. Constructed haplotypes within this block were linked the altered risks of tuberculosis. For example, in comparison with the common haplotype AA(rs8087945-rs12456774, haplotypes AG(rs8087945-rs12456774 and GA(rs8087945-rs12456774 were associated with a decreased risk of tuberculosis, with the adjusted odds ratio(95% confidence interval of 0.34(0.27-0.42 and 0.22(0.16-0.29, respectively. Conclusions Susceptibility locus of rs4331426 discovered in the African population could not be validated in the Chinese population. None of genetic polymorphisms we genotyped were related to tuberculosis in the single-point analysis. However, haplotypes on chromosome 18q11.2 might contribute to an individual's susceptibility. More work is necessary to identify the true causative variants of tuberculosis.

  15. Pretreatment serum concentrations of 25-hydroxyvitamin D and breast cancer prognostic characteristics: a case-control and a case-series study.

    Directory of Open Access Journals (Sweden)

    Song Yao

    2011-02-01

    Full Text Available Results from epidemiologic studies on the relationship between vitamin D and breast cancer risk are inconclusive. It is possible that vitamin D may be effective in reducing risk only of specific subtypes due to disease heterogeneity.In case-control and case-series analyses, we examined serum concentrations of 25-hydroxyvitamin D (25OHD in relation to breast cancer prognostic characteristics, including histologic grade, estrogen receptor (ER, and molecular subtypes defined by ER, progesterone receptor (PR and HER2, among 579 women with incident breast cancer and 574 controls matched on age and time of blood draw enrolled in the Roswell Park Cancer Institute from 2003 to 2008. We found that breast cancer cases had significantly lower 25OHD concentrations than controls (adjusted mean, 22.8 versus 26.2 ng/mL, p<0.001. Among premenopausal women, 25OHD concentrations were lower in those with high- versus low-grade tumors, and ER negative versus ER positive tumors (p≤0.03. Levels were lowest among women with triple-negative cancer (17.5 ng/mL, significantly different from those with luminal A cancer (24.5 ng/mL, p = 0.002. In case-control analyses, premenopausal women with 25OHD concentrations above the median had significantly lower odds of having triple-negative cancer (OR = 0.21, 95% CI = 0.08-0.53 than those with levels below the median; and every 10 ng/mL increase in serum 25OHD concentrations was associated with a 64% lower odds of having triple-negative cancer (OR = 0.36, 95% CI = 0.22-0.56. The differential associations by tumor subtypes among premenopausal women were confirmed in case-series analyses.In our analyses, higher serum levels of 25OHD were associated with reduced risk of breast cancer, with associations strongest for high grade, ER negative or triple negative cancers in premenopausal women. With further confirmation in large prospective studies, these findings could warrant vitamin D supplementation for

  16. Pretreatment Serum Concentrations of 25-Hydroxyvitamin D and Breast Cancer Prognostic Characteristics: A Case-Control and a Case-Series Study

    Science.gov (United States)

    Yao, Song; Sucheston, Lara E.; Millen, Amy E.; Johnson, Candace S.; Trump, Donald L.; Nesline, Mary K.; Davis, Warren; Hong, Chi-Chen; McCann, Susan E.; Hwang, Helena; Kulkarni, Swati; Edge, Stephen B.; O'Connor, Tracey L.; Ambrosone, Christine B.

    2011-01-01

    Background Results from epidemiologic studies on the relationship between vitamin D and breast cancer risk are inconclusive. It is possible that vitamin D may be effective in reducing risk only of specific subtypes due to disease heterogeneity. Methods and Findings In case-control and case-series analyses, we examined serum concentrations of 25-hydroxyvitamin D (25OHD) in relation to breast cancer prognostic characteristics, including histologic grade, estrogen receptor (ER), and molecular subtypes defined by ER, progesterone receptor (PR) and HER2, among 579 women with incident breast cancer and 574 controls matched on age and time of blood draw enrolled in the Roswell Park Cancer Institute from 2003 to 2008. We found that breast cancer cases had significantly lower 25OHD concentrations than controls (adjusted mean, 22.8 versus 26.2 ng/mL, p<0.001). Among premenopausal women, 25OHD concentrations were lower in those with high- versus low-grade tumors, and ER negative versus ER positive tumors (p≤0.03). Levels were lowest among women with triple-negative cancer (17.5 ng/mL), significantly different from those with luminal A cancer (24.5 ng/mL, p = 0.002). In case-control analyses, premenopausal women with 25OHD concentrations above the median had significantly lower odds of having triple-negative cancer (OR = 0.21, 95% CI = 0.08–0.53) than those with levels below the median; and every 10 ng/mL increase in serum 25OHD concentrations was associated with a 64% lower odds of having triple-negative cancer (OR = 0.36, 95% CI = 0.22–0.56). The differential associations by tumor subtypes among premenopausal women were confirmed in case-series analyses. Conclusion In our analyses, higher serum levels of 25OHD were associated with reduced risk of breast cancer, with associations strongest for high grade, ER negative or triple negative cancers in premenopausal women. With further confirmation in large prospective studies, these findings could warrant

  17. Genetic control of some morphological mutants in sunflower [Helianthus annuus L.

    International Nuclear Information System (INIS)

    Nabipour, A.; Sarrafi, A.; Yazdi-Samadi, B.

    2004-01-01

    Inheritance study of induced mutants is an important tool in genetic and breeding programs. Sunflower is one of the most important oil crops for which mutant collection is meager. Seeds of sunflower line AS-613 were irradiated with gamma rays and mutant phenotypes were traced until M4 generation. In M5 generation, the following traits were studied: dwarfing, branching, leaf shape, albinism, rosette, lack of apex and alternative leaves. In most cases, the mutated characters were controlled by a single recessive gene, while in two cases they were controlled by two recessive genes. In M5 progenies, segregation for two albino, one alternative leaves, one dwarfism, 5 branching, one rosette, 2 lacks of apex and 5 leaf shape mutants was recorded. Amongst five cases of branching, one was controlled by two recessive genes, where at least one homozygote recessive locus was necessary for branching. In one case, the lack of apex was controlled by two recessive genes and even only one dominant allele could provoke the normal plant [it

  18. Genetic Engineering and Sustainable Crop Disease Management: Opportunities for Case-by-Case Decision-Making

    Directory of Open Access Journals (Sweden)

    Paul Vincelli

    2016-05-01

    Full Text Available Genetic engineering (GE offers an expanding array of strategies for enhancing disease resistance of crop plants in sustainable ways, including the potential for reduced pesticide usage. Certain GE applications involve transgenesis, in some cases creating a metabolic pathway novel to the GE crop. In other cases, only cisgenessis is employed. In yet other cases, engineered genetic changes can be so minimal as to be indistinguishable from natural mutations. Thus, GE crops vary substantially and should be evaluated for risks, benefits, and social considerations on a case-by-case basis. Deployment of GE traits should be with an eye towards long-term sustainability; several options are discussed. Selected risks and concerns of GE are also considered, along with genome editing, a technology that greatly expands the capacity of molecular biologists to make more precise and targeted genetic edits. While GE is merely a suite of tools to supplement other breeding techniques, if wisely used, certain GE tools and applications can contribute to sustainability goals.

  19. [Application of case-based method in genetics and eugenics teaching].

    Science.gov (United States)

    Li, Ya-Xuan; Zhao, Xin; Zhang, Fei-Xiong; Hu, Ying-Kao; Yan, Yue-Ming; Cai, Min-Hua; Li, Xiao-Hui

    2012-05-01

    Genetics and Eugenics is a cross-discipline between genetics and eugenics. It is a common curriculum in many Chinese universities. In order to increase the learning interest, we introduced case teaching method and got a better teaching effect. Based on our teaching practices, we summarized some experiences about this subject. In this article, the main problem of case-based method applied in Genetics and Eugenics teaching was discussed.

  20. Low levels of 17-β-oestradiol, oestrone and testosterone correlate with severe evaporative dysfunctional tear syndrome in postmenopausal women: a case-control study.

    Science.gov (United States)

    Gagliano, Caterina; Caruso, Salvatore; Napolitano, Giuseppe; Malaguarnera, Giulia; Cicinelli, Maria Vittoria; Amato, Roberta; Reibaldi, Michele; Incarbone, Giuseppe; Bucolo, Claudio; Drago, Filippo; Avitabile, Teresio

    2014-03-01

    To evaluate the role of 17-β-oestradiol, oestrone and total testosterone (TT) deficiency in the pathogenesis of severe evaporative dry eye syndrome (DES), investigating the relationship between tear osmolarity, tear film break-up time (TF-BUT), Schirmer test and serum sex hormones in postmenopausal women. 44 postmenopausal women were recruited for a case-control study: 22 women with severe evaporative DES (Group A) and 22 without DES (Group B). The tests performed included laboratory blood analysis: fasting plasma profile (17-β-oestradiol, oestrone and TT), glucose level and lipid profile. Detailed eye examinations, including corneal and conjunctival staining, tear osmolarity measurement, tear volume and TF-BUT, were performed. The Ocular Surface Disease Index Questionnaire was also administered. Values of Schirmer test and TF-BUT in Group A were significantly lower in comparison with Group B (p<0.001). Serum levels of 17-β-oestradiol, oestrone and TT were significantly lower in Group A compared with Group B (p<0.05). In women with severe evaporative DES, the levels of 17-β-oestradiol, oestrone and TT were inversely correlated with the tear film osmolarity (r=-0.7, -0.88, -0.81, respectively). In postmenopausal women with severe evaporative DES, sex hormone levels are lower than control and that tear osmolarity is negatively correlated with sex hormone levels.

  1. Risk Factors Profile of Shoulder Dystocia in Oman: A Case Control Study

    OpenAIRE

    Maha M. Al-Khaduri; Rania Mohammed Abudraz; Sayed G. Rizvi; Yahya M. Al-Farsi

    2014-01-01

    Objective: This study aimed to assess the risk factor profile of shoulder dystocia and associated neonatal complications in Oman, a developing Arab country. Methods: A retrospective case-control study was conducted among 111 cases with dystocia and 111 controls, identified during 1994-2006 period in a tertiary care hospital in Oman. Controls were randomly selected among women who did not have dystocia, and were matched to cases on the day of delivery. Data related to potential risk factor...

  2. Genetic markers of comorbid depression and alcoholism in women.

    Science.gov (United States)

    Procopio, Daniela O; Saba, Laura M; Walter, Henriette; Lesch, Otto; Skala, Katrin; Schlaff, Golda; Vanderlinden, Lauren; Clapp, Peter; Hoffman, Paula L; Tabakoff, Boris

    2013-06-01

    Alcohol dependence (AD) is often accompanied by comorbid depression. Recent clinical evidence supports the benefit of subtype-specific pharmacotherapy in treating the population of alcohol-dependent subjects with comorbid major depressive disorder (MDD). However, in many alcohol-dependent subjects, depression is a reactive response to chronic alcohol use and withdrawal and abates with a period of abstinence. Genetic markers may distinguish alcohol-dependent subjects with MDD not tied chronologically and etiologically to their alcohol consumption. In this work, we investigated the association of adenylyl cyclase genes (ADCY1-9), which are implicated in both AD and mood disorders, with alcoholism and comorbid depression. Subjects from Vienna, Austria (n = 323) were genotyped, and single nucleotide polymorphisms (1,152) encompassing the genetic locations of the 9 ADCY genes were examined. The Vienna cohort contained alcohol-dependent subjects differentiated using the Lesch Alcoholism Typology. In this typology, subjects are segregated into 4 types. Type III alcoholism is distinguished by co-occurrence of symptoms of depression and by affecting predominantly females. We identified 4 haplotypes associated with the phenotype of Type III alcoholism in females. One haplotype was in a genomic area in proximity to ADCY2, but actually within a lincRNA gene, 2 haplotypes were within ADCY5, and 1 haplotype was within the coding region of ADCY8. Three of the 4 haplotypes contributed independently to Type III alcoholism and together generated a positive predictive value of 72% and a negative predictive value of 78% for distinguishing women with a Lesch Type III diagnosis versus women designated as Type I or II alcoholics. Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression. Each of these genetic locations can rationally contribute to the polygenic etiology of

  3. Distribution of human papilloma virus type 16 E6/E7 gene mutation in cervical precancer or cancer: A case control study in Guizhou Province, China.

    Science.gov (United States)

    Yang, Yingjie; Ren, Jie; Zhang, Qizhu

    2016-02-01

    HPV-16 varies geographically and is correlated with cervical cancer genesis and progression. This study aimed to determine the distribution of HPV-16 E6/E7 genetic variation in patients with invasive cervical cancer or precancer in Guizhou Province, China. A case-control study was designed, and the distribution of HPV-16 E6/E7 genetic variation was compared among women with cervical cancer, precancer, and sexually active without cervical lesion. HPV infection was detected through flow-through hybridization and gene chip techniques to determine the prevalence of HPV 16 E6/E7 genetic variation. Among 90 specimens (30 cervical cancer, 30 precancer, 30 controls), 81 were subjected to HPV-16 E6/E7 gene sequencing. The rates of DNA sequence mutation and amino acid mutation were 76.5% (62/81) and 66.7% (54/81), respectively. Both E6 and E7 genes showed higher mutation rate than their prototypes. The prevalence of E6/E7 mutation significantly differed between the cervical cancer and the controls (P prevalent in cervical cancer or precancer than those in the controls. The possible correlation between genetic variation and cancerigenesis may be used to design an HPV vaccine for cervical carcinoma. © 2015 Wiley Periodicals, Inc.

  4. A case-control study to assess the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk.

    Science.gov (United States)

    Assi, Valentina; Massat, Nathalie J; Thomas, Susan; MacKay, James; Warwick, Jane; Kataoka, Masako; Warsi, Iqbal; Brentnall, Adam; Warren, Ruth; Duffy, Stephen W

    2015-05-15

    Mammographic density is a strong risk factor for breast cancer, but its potential application in risk management is not clear, partly due to uncertainties about its interaction with other breast cancer risk factors. We aimed to quantify the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk of breast cancer (average lifetime risk of 23%), in particular in premenopausal women, and to investigate its relationship with other breast cancer risk factors in this population. We present the results from a case-control study nested with the FH01 cohort study of 6,710 women mostly aged 40-49 at intermediate familial risk of breast cancer. One hundred and three cases of breast cancer were age-matched to one or two controls. Density was measured by semiautomated interactive thresholding. Absolute density, but not percent density, was a significant risk factor for breast cancer in this population after adjusting for area of nondense tissue (OR per 10 cm(2) = 1.07, 95% CI 1.00-1.15, p = 0.04). The effect was stronger in premenopausal women, who made up the majority of the study population. Absolute density remained a significant predictor of breast cancer risk after adjusting for age at menarche, age at first live birth, parity, past or present hormone replacement therapy, and the Tyrer-Cuzick 10-year relative risk estimate of breast cancer. Absolute density can improve breast cancer risk stratification and delineation of high-risk groups alongside the Tyrer-Cuzick 10-year relative risk estimate. © 2014 UICC.

  5. The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent.

    Science.gov (United States)

    Sussner, Katarina M; Thompson, Hayley S; Jandorf, Lina; Edwards, Tiffany A; Forman, Andrea; Brown, Karen; Kapil-Pair, Nidhi; Bovbjerg, Dana H; Schwartz, Marc D; Valdimarsdottir, Heiddis B

    2009-09-01

    Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent. Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing. In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.

  6. Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.

    Science.gov (United States)

    Hesse-Biber, Sharlene; An, Chen

    2016-10-01

    Through an analysis of an online survey of women who tested positive for the BRCA genetic mutation for breast cancer, this research uses a social constructionist and feminist standpoint lens to understand the decision-making process that leads BRCA-positive women to choose genetic testing. Additionally, this research examines how they socially construct and understand their risk for developing breast cancer, as well as which treatment options they undergo post-testing. BRCA-positive women re-frame their statistical medical risk for developing cancer and their post-testing treatment choices through a broad psychosocial context of engagement that also includes their social networks. Important psychosocial factors drive women's medical decisions, such as individual feelings of guilt and vulnerability, and the degree of perceived social support. Women who felt guilty and fearful that they might pass the BRCA gene to their children were more likely to undergo risk reducing surgery. Women with at least one daughter and women without children were more inclined toward the risk reducing surgery compared to those with only sons. These psychosocial factors and social network engagements serve as a "nexus of decision making" that does not, for the most part, mirror the medical assessments of statistical odds for hereditary cancer development, nor the specific treatment protocols outlined by the medical establishment.

  7. Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies

    Science.gov (United States)

    Joon, Aron; Brewster, Abenaa M.; Chen, Wei V.; Eng, Cathy; Shete, Sanjay; Casey, Graham; Schumacher, Fredrick; Lin, Yi; Harrison, Tabitha A.; White, Emily; Ahsan, Habibul; Andrulis, Irene L.; Whittemore, Alice S.; Ko Win, Aung; Schmidt, Daniel F.; Kapuscinski, Miroslaw K.; Ochs-Balcom, Heather M.; Gallinger, Steven; Jenkins, Mark A.; Newcomb, Polly A.; Lindor, Noralane M.; Peters, Ulrike; Amos, Christopher I.; Lynch, Patrick M.

    2018-01-01

    Background Clustering of breast and colorectal cancer has been observed within some families and cannot be explained by chance or known high-risk mutations in major susceptibility genes. Potential shared genetic susceptibility between breast and colorectal cancer, not explained by high-penetrance genes, has been postulated. We hypothesized that yet undiscovered genetic variants predispose to a breast-colorectal cancer phenotype. Methods To identify variants associated with a breast-colorectal cancer phenotype, we analyzed genome-wide association study (GWAS) data from cases and controls that met the following criteria: cases (n = 985) were women with breast cancer who had one or more first- or second-degree relatives with colorectal cancer, men/women with colorectal cancer who had one or more first- or second-degree relatives with breast cancer, and women diagnosed with both breast and colorectal cancer. Controls (n = 1769), were unrelated, breast and colorectal cancer-free, and age- and sex- frequency-matched to cases. After imputation, 6,220,060 variants were analyzed using the discovery set and variants associated with the breast-colorectal cancer phenotype at Pcolorectal cancer phenotype in the discovery and replication data (most significant; rs7430339, Pdiscovery = 1.2E-04; rs7429100, Preplication = 2.8E-03). In meta-analysis of the discovery and replication data, the most significant association remained at rs7429100 (P = 1.84E-06). Conclusion The results of this exploratory analysis did not find clear evidence for a susceptibility locus with a pleiotropic effect on hereditary breast and colorectal cancer risk, although the suggestive association of genetic variation in the region of ROBO1, a potential tumor suppressor gene, merits further investigation. PMID:29698419

  8. Genetic variants in FGFR2 and FGFR4 genes and skin cancer risk in the Nurses' Health Study

    International Nuclear Information System (INIS)

    Nan, Hongmei; Qureshi, Abrar A; Hunter, David J; Han, Jiali

    2009-01-01

    The human fibroblast growth factor (FGF) and its receptor (FGFR) play an important role in tumorigenesis. Deregulation of the FGFR2 gene has been identified in a number of cancer sites. Overexpression of the FGFR4 protein has been linked to cutaneous melanoma progression. Previous studies reported associations between genetic variants in the FGFR2 and FGFR4 genes and development of various cancers. We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. We found no evidence for associations between these seven genetic variants and the risks of melanoma and nonmelanocytic skin cancer. Given the power of this study, we did not detect any contribution of genetic variants in the FGFR2 or FGFR4 genes to inherited predisposition to skin cancer among Caucasian women

  9. Dengue infection and miscarriage: a prospective case control study.

    Directory of Open Access Journals (Sweden)

    Peng Chiong Tan

    Full Text Available BACKGROUND: Dengue is the most prevalent mosquito borne infection worldwide. Vertical transmissions after maternal dengue infection to the fetus and pregnancy losses in relation to dengue illness have been reported. The relationship of dengue to miscarriage is not known. METHOD: We aimed to establish the relationship of recent dengue infection and miscarriage. Women who presented with miscarriage (up to 22 weeks gestation to our hospital were approached to participate in the study. For each case of miscarriage, we recruited 3 controls with viable pregnancies at a similar gestation. A brief questionnaire on recent febrile illness and prior dengue infection was answered. Blood was drawn from participants, processed and the frozen serum was stored. Stored sera were thawed and then tested in batches with dengue specific IgM capture ELISA, dengue non-structural protein 1 (NS1 antigen and dengue specific IgG ELISA tests. Controls remained in the analysis if their pregnancies continued beyond 22 weeks gestation. Tests were run on 116 case and 341 control sera. One case (a misdiagnosed viable early pregnancy plus 45 controls (39 lost to follow up and six subsequent late miscarriages were excluded from analysis. FINDINGS: Dengue specific IgM or dengue NS1 antigen (indicating recent dengue infection was positive in 6/115 (5·2% cases and 5/296 (1·7% controls RR 3·1 (95% CI 1·0-10 P = 0·047. Maternal age, gestational age, parity and ethnicity were dissimilar between cases and controls. After adjustments for these factors, recent dengue infection remained significantly more frequently detected in cases than controls (AOR 4·2 95% CI 1·2-14 P = 0·023. INTERPRETATION: Recent dengue infections were more frequently detected in women presenting with miscarriage than in controls whose pregnancies were viable. After adjustments for confounders, the positive association remained.

  10. Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies

    Directory of Open Access Journals (Sweden)

    Kathryn L. Jackson

    2016-11-01

    Full Text Available Abstract Background Community associated methicillin-resistant Staphylococcus aureus (CA-MRSA is one of the most common causes of skin and soft tissue infections in the United States, and a variety of genetic host factors are suspected to be risk factors for recurrent infection. Based on the CDC definition, we have developed and validated an electronic health record (EHR based CA-MRSA phenotype algorithm utilizing both structured and unstructured data. Methods The algorithm was validated at three eMERGE consortium sites, and positive predictive value, negative predictive value and sensitivity, were calculated. The algorithm was then run and data collected across seven total sites. The resulting data was used in GWAS analysis. Results Across seven sites, the CA-MRSA phenotype algorithm identified a total of 349 cases and 7761 controls among the genotyped European and African American biobank populations. PPV ranged from 68 to 100% for cases and 96 to 100% for controls; sensitivity ranged from 94 to 100% for cases and 75 to 100% for controls. Frequency of cases in the populations varied widely by site. There were no plausible GWAS-significant (p < 5 E −8 findings. Conclusions Differences in EHR data representation and screening patterns across sites may have affected identification of cases and controls and accounted for varying frequencies across sites. Future work identifying these patterns is necessary.

  11. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.

    Directory of Open Access Journals (Sweden)

    Yan Guo

    2016-08-01

    Full Text Available Observational epidemiological studies have shown that high body mass index (BMI is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC (cases  =  46,325, controls  =  42,482. We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively.In the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR]  =  0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56-0.75, p = 3.32 × 10-10. The associations were similar for both premenopausal (OR   =   0.44, 95% CI:0.31-0.62, p  =  9.91 × 10-8 and postmenopausal breast cancer (OR  =  0.57, 95% CI: 0.46-0.71, p  =  1.88 × 10-8. This association was replicated in the data from the DRIVE consortium (OR  =  0.72, 95% CI: 0.60-0.84, p   =   1.64 × 10-7. Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs in association with breast cancer risk at p < 0.05; for 16 of them, the

  12. Association of a common allelic polymorphism (C677T) in the methylene tetrahydrofolate reductase gene with a reduced risk of osteoporotic fractures. A case control study in Danish postmenopausal women

    DEFF Research Database (Denmark)

    Jørgensen, H L; Madsen, J S; Madsen, B

    2002-01-01

    of this study was to investigate the influence of this mutation on peripheral measures of bone density and on the odds ratios (OR) for hip and lower forearm fracture in a case control study of Danish postmenopausal women. A total of 74 women with lower forearm fracture, 41 women with hip fracture, and 207 age......-matched controls were included. All had broadband ultrasound attenuation (BUA) and speed of sound (SOS) measured at the heel as well as bone mineral density (BMD) measured by dual X-ray absorptiometry at the distal forearm. The MTHFR (C677T) genotypes were determined using polymerase chain reaction restriction...

  13. Sexual Dysfunction in Breast Cancer: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Mandana Ebrahimi

    2015-02-01

    Full Text Available Background: Sexual dysfunction in breast cancer patients is considered as a common and distressing problem. Considering the increasing number of breast cancer survivors living for longer periods of time with the disease and the importance of their quality of life, we conducted the present study to compare the sexual functioning in breast cancer patients with their healthy counterparts.Methods: In this case-control study, breast cancer patients who completed their treatment protocol and were followed up for at least six months were included. The controls were healthy women with normal clinical breast examinations. All subjects filled-in the Persian version of Female Sexual Function Index questionnaire.Results: A total of 165 subjects including 71 breast cancer patients and 94 healthy women were studied. The frequency of sexual dysfunction in cases and controls was 52.6% and 47.4%, respectively (P = 0.09. There were no significant differences between the two groups regarding domain scores, except for vaginal lubrication (P = 0.045. Logistic regression analysis indicated that significant determinants of sexual dysfunction in breast cancer group was patients' age (OR = 4.0, 95%CI: 1.3 – 11.5, P = 0.01 and age of the spouse (OR= 9.8, 95% CI: 1.8-51.9, P= 0.007, while in controls, only emotional relationship with the husband was the significant predictive factor (OR = 6.3, 95%CI: 1.9 – 20.5, P = 0.002.Conclusions: Our findings indicated that sexual dysfunction is prevalent in Iranian women regardless of their physical health status. The frequency of vaginal dryness in breast cancer patients was significantly higher than controls. Age of the patient and the spouse (>40 were the only significant predictors of sexual dysfunction among women with breast cancer. Preventive strategies, sexual education and access to effective treatment should be planned in supportive care of breast cancer patients.

  14. Disclosure of genetic information and change in dietary intake: a randomized controlled trial.

    Directory of Open Access Journals (Sweden)

    Daiva E Nielsen

    Full Text Available Proponents of consumer genetic tests claim that the information can positively impact health behaviors and aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not clear.A double-blinded, parallel group, 2:1 online randomized controlled trial was conducted to determine the short- and long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 20-35 years (n = 138. The intervention group (n = 92 received personalized DNA-based dietary advice for 12-months and the control group (n = 46 received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary advice.Compared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3-months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were advised to limit their sodium intake, significantly reduced their sodium intake (mg/day compared to the control group (-287.3 ± 114.1 vs. 129.8 ± 118.2, p = 0.008. Those who had the non-risk version of ACE did not significantly change their sodium intake compared to the control group (12-months: -244.2 ± 150.2, p = 0.11. Among those with the risk version of the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to 34% after 12 months (p = 0.06.These findings demonstrate that disclosing genetic information for personalized nutrition results in greater changes in intake for some dietary components compared to

  15. Psychosocial development of full term singletons, born after preimplantation genetic diagnosis (PGD) at preschool age and family functioning: a prospective case-controlled study and multi-informant approach.

    Science.gov (United States)

    Winter, C; Van Acker, F; Bonduelle, M; Desmyttere, S; Nekkebroeck, J

    2015-05-01

    Do full term singletons born after preimplantation genetic diagnosis (PGD) differ in their psychosocial functioning from children born after intracytoplasmic sperm injection (ICSI) and spontaneous conceived controls (SC)? The psychosocial maturation process of 5-6-year-old PGD children is comparable between the three conception groups (PGD, ICSI and SC). In general, a lot of research has been published regarding follow-up of children born after artificial reproductive technologies (ART), which mainly is reassuring. But the ART population itself is marked by broad diversity [IVF, ICSI, gamete donation, preimplantation genetic screening (PGS) or PGD] which complicates comparisons. Some literature concerning the socio-emotional development of PGD/PGS children is available and it suggests a normal maturation process. However, the complex reality of PGD families (e.g. safety of the technique and psychological burden of genetic histories) asks for an exclusive PGD sample with matched control groups and a multi-informant approach. Between April 2011 and May 2013, the psychosocial wellbeing of preschoolers and their families born after PGD was assessed in a prospective case-controlled, matched follow-up study, with a multi-informant approach. A group of 47 PGD, 50 ICSI and 55 SC 5-6-year-old children participated in a follow-up study performed at the Centre for Medical Genetics of the Universitair Ziekenhuis Brussel (UZ Brussel). Assessments took place in the hospital and in kindergartens. Children performed the Bene-Anthony family relations test (FRT), yielding their perceptions upon family relationships. Parents and teachers completed the child behaviour checklist (CBCL) and Caregiver Teacher Report Form (C-/TRF), respectively. Parental and family functioning were measured by the NEO-FFi, the parenting stress index (PSI), the Greenberger Work-Parenting Investment Questionnaire and the Marlowe-Crowne Social Desirability Scale (MCSDS). Statistical analysis was performed by

  16. Association Study between Polycystic Ovarian Syndrome and the Susceptibility Genes Polymorphisms in Hui Chinese Women.

    Directory of Open Access Journals (Sweden)

    Lingxia Ha

    Full Text Available Polycystic ovary syndrome (PCOS is one of the most common endocrine-metabolic disorders. Evidence of familial aggregation analysis and different clinical traits among different regions and ethnicities indicated that the pathogenesis of PCOS is associated with multiple genetic and environmental factors. Our previous research had identified three susceptibility loci (rs2479106, DENND1A; rs13405728, LHCGR; rs13429458, THADA for PCOS in Han Chinese women. The overall aim of this study was to investigate the relationship between three susceptibility gene polymorphisms and PCOS in Hui ethnic women.151 patients with PCOS (case group and 99 healthy women (control group were recruited from the Reproductive Medicine Center of the General Hospital of Ningxia Medical University. Clinical data and serum hormone characteristics of case and control groups were collected and analyzed. The three susceptibility single-nucleotide polymorphisms have been replicated in both case and control groups. Gene polymorphisms were detected by direct sequencing after polymerase chain reaction.The Body Mass Index, LH, LH/FSH ratio and total testosterone were significantly elevated in PCOS patients compared to control group (P0.05.The present study suggested that the SNP rs13405728 in the LHCGR gene was associated with PCOS in Hui ethnic women, and its TT genotype characterized with higher level of TT, TG and LDL.

  17. Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads

    Directory of Open Access Journals (Sweden)

    Myking Solveig

    2011-12-01

    Full Text Available Abstract Background Spontaneous preterm delivery (PTD has a multifactorial etiology with evidence of a genetic contribution to its pathogenesis. A number of candidate gene case-control studies have been performed on spontaneous PTD, but the results have been inconsistent, and do not fully assess the role of how two genotypes can impact outcome. To elucidate this latter point we re-analyzed data from a previously published case-control candidate gene study, using a case-parent triad design and a hybrid design combining case-parent triads and control-mother dyads. These methods offer a robust approach to genetic association studies for PTD compared to traditional case-control designs. Methods The study participants were obtained from the Norwegian Mother and Child Cohort Study (MoBa. A total of 196 case triads and 211 control dyads were selected for the analysis. A case-parent triad design as well as a hybrid design was used to analyze 1,326 SNPs from 159 candidate genes. We compared our results to those from a previous case-control study on the same samples. Haplotypes were analyzed using a sliding window of three SNPs and a pathway analysis was performed to gain biological insight into the pathophysiology of preterm delivery. Results The most consistent significant fetal gene across all analyses was COL5A2. The functionally similar COL5A1 was significant when combining fetal and maternal genotypes. PON1 was significant with analytical approaches for single locus association of fetal genes alone, but was possibly confounded by maternal effects. Focal adhesion (hsa04510, Cell Communication (hsa01430 and ECM receptor interaction (hsa04512 were the most constant significant pathways. Conclusion This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous PTD. In addition, the pathway analysis implied interactions of genes affecting cell communication and extracellular matrix.

  18. An investigation of breast cancer risk factors in Cyprus: a case control study

    Directory of Open Access Journals (Sweden)

    Hadjisavvas Andreas

    2010-08-01

    Full Text Available Abstract Background Breast cancer is the most common form of malignancy affecting women worldwide. It is also the leading cancer in females in Cyprus, with approximately 400 new cases diagnosed annually. It is well recognized that genetic variation as well as environmental factors modulate breast cancer risk. The main aim of this study was to assess the strength of associations between recognized risk factors and breast cancer among Cypriot women. This is the first epidemiological investigation on risk factors of breast cancer among the Cypriot female population. Methods We carried out a case-control study, involving 1,109 breast cancer patients and a group of 1,177 controls who were recruited while participating in the National screening programme for breast cancer. Information on demographic characteristics and potential risk factors were collected from both groups during a standardized interview. Logistic regression analysis was used to assess the strength of the association between each risk factor and breast cancer risk, before and after adjusting for the possible confounding effect of other factors. Results In multivariable models, family history of breast cancer (OR 1.64, 95% CI 1.23, 2.19 was the strongest predictor of breast cancer risk in the Cypriot population. Late menarche (OR 0.64, 95% CI 0.45, 0.92 among women reaching menarche after the age of 15 vs. before the age of 12 and breastfeeding (OR 0.74, 95% CI 0.59, 0.92 exhibited a strong protective effect. In the case of breastfeeding, the observed effect appeared stronger than the effect of pregnancy alone. Surprisingly, we also observed an inverse association between hormone replacement therapy (HRT although this may be a product of the retrospective nature of this study. Conclusion Overall the findings of our study corroborate with the results of previous investigations on descriptive epidemiology of risk factors for breast cancer. This investigation provides important background

  19. Genetic variation in the immunosuppression pathway genes and breast cancer: a pooled analysis of 42,510 cases and 40,577 controls from the Breast

    OpenAIRE

    Lei, Jieping; Rudolph, Anja; Moysich, Kirsten B; Behrens, Sabine; Goode, Ellen L; Bolla, Manjeet K; Dennis, Joe; Dunning, Alison Margaret; Easton, Douglas Frederick; Wang, Qin; Benitez, Javier; Hopper, John L; Southey, Melissa C; Schmidt, Marjanka K; Broeks, Annegien

    2015-01-01

    Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in breast cancer tumorigenesis. We included 42,510 female breast cancer cases and 40,577 controls of European ancestry from 37 studies in the Breast Cancer Association Consortium (2015) with available genotype data for 3595 single nucleotide polymorphisms (SNPs) in 133 candidate g...

  20. Breast cancer of young women - case report

    International Nuclear Information System (INIS)

    Slobodnikova, J.

    2013-01-01

    Introduction: Breast cancer is the most common malignancy of the female population, the incidence is increasing mainly statistically between 50. a 60s, 60s and 70s. Recently, however, we meet more often with the occurrence of breast cancer in women in 30 year and significantly between 30 and 40 year. Cases: The following are examples of four young women who had different symptoms who failed primary diagnosis was revalued the importance of sonography and age, did not think the possibility of the presence of cancer. Results: The patients presented were finally correctly diagnosed, treated with a relatively good prognosis. Their diagnosis, however, could be faster and smaller tumors. However, despite the fact that Slovakia has enacted preventive investigation of the breast young women from the 20 to 40th of clinically and sonographically, encountered in practice, often with cases of breast cancer diagnosed late. Conclusion: Case report we highlight the diversity of clinical symptoms and the possibility of imaging diagnostic techniques in the diagnosis of breast disease of young women. We also want to draw attention to some underestimation of clinical symptoms, while revaluation results of sonographic examinations. An important factor is the quality of the ultrasound device and effective consultation and cooperation with other diagnostic departments. (author)

  1. Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study.

    Science.gov (United States)

    Salih, Mustafa A M; Murshid, Waleed R; Mohamed, Ashry Gad; Ignacio, Lena C; de Jesus, Julie E; Baabbad, Rubana; El Bushra, Hassan M

    2014-01-01

    Both genetic and non-genetic environmental factors are involved in the etiology of neural tube defects (NTD) which affect 0.5-2/1000 pregnancies worldwide. This study aimed to explore the risk factors for the development of NTD in Saudi population, and highlight identifiable and preventable causes. Similar studies are scarce in similar populations ofthe Arabian Peninsula and North Africa. This is an unmatched concurrent case-control study including NTD cases born at King Khalid University Hospital, Riyadh during a 4-year period (2002-2006). The case-control study included 25 cases and 125 controls (case: control ratio of 1:5). Years of formal education, employment, household environment (including availability of air conditioning) and rate of parental consanguinity did not differ between mothers of cases and controls. Significantly higher proportion of mothers of cases had history of stillbirth compared to control mothers (16% vs 4.1%, P=0.02). Also family history of hydrocephalus and congenital anomalies were more prevalent in cases than controls (P values=0.0000 and 0.003, respectively). There was significant protective effect of periconceptional folic acid consumption both prior to conception (OR 0.02, 95% CI 0.00-0.07) and during the first 6 weeks of conception (OR 0.13, 95% CI 0.04-0.39). Further research, including a larger cohort, is required to enable ascertainment of gene-nutrient and gene environment interactions associated with NTD in Saudi Arabia.

  2. The Glioma International Case-Control Study

    DEFF Research Database (Denmark)

    Amirian, E. Susan; Armstrong, Georgina N; Zhou, Renke

    2016-01-01

    Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity of tumor subtypes, and retrospective exposure assessment. Here, we briefly...... describe the Glioma International Case-Control (GICC) Study (recruitment, 2010-2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen...

  3. Neutrophil Gelatinase-Associated Lipocalin Biomarker and Urinary Tract Infections: A Diagnostic Case-Control Study (NUTI Study).

    Science.gov (United States)

    Price, Jameca Renee; Guran, Larissa; Lim, Jeong Youn; Megli, Christina J; Clark, Amanda L; Edwards, Sharon Renee; Denman, Mary Anna; Gregory, W Thomas

    Acute uncomplicated urinary tract infection (UTI) in women is often treated based on symptoms alone. Urinary tract infection symptoms are highly sensitive but lack specificity and result in overuse of antibiotics. We sought to determine if urine neutrophil gelatinase-associated lipocalin (uNGAL) levels in urine can accurately discriminate between UTI and healthy women. We recruited adult women aged 18 to 85 years presenting in the ambulatory setting from November 2014 to January 2016. Cases were defined as women with Centers for Disease Control and Prevention-defined UTI symptoms and a positive urine culture of more than 10 organisms/mL on a midstream clean-catch specimen. Women without UTI symptoms were matched by age and menopausal status as control subjects. Exclusion criteria were no UTIs within 8 weeks, urinary tract anomalies, renal disease, pregnancy, or diabetes. Clean-catch urine samples were obtained for measuring uNGAL, prior to antibiotic treatment of cases. We used Mann-Whitney U test to compare the 2 groups. Receiver operating characteristic curves were plotted to compare the performance of uNGAL to established urinary markers. We enrolled 50 UTI cases and 50 control subjects. Urine NGAL levels were higher in the UTI group than in the control subjects (P UTI. Urine NGAL has the potential as a biomarker for diagnosing UTIs in adult women.

  4. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    Science.gov (United States)

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  5. Developmental and genetic determinants of leadership role occupancy among women.

    Science.gov (United States)

    Arvey, Richard D; Zhang, Zhen; Avolio, Bruce J; Krueger, Robert F

    2007-05-01

    The genetic and developmental influences on leadership role occupancy were investigated using a sample of 178 fraternal and 214 identical female twins. Two general developmental factors were identified, one involving formal work experiences and the other a family experiences factor hypothesized to influence whether women move into positions of leadership in organizations. Results indicated that 32% of the variance in leadership role occupancy was associated with heritability. The 2 developmental factors also showed significant correlations with leadership role occupancy. However, after genetic factors were partialed out, only the work experience factor was significantly related to leadership role occupancy. Results are discussed in terms of prior life events and experiences that may trigger leadership development and the limitations of this study. 2007 APA, all rights reserved

  6. Women as Mendelians and Geneticists

    Science.gov (United States)

    Richmond, Marsha L.

    2015-01-01

    After the rediscovery of Mendel's laws of heredity in 1900, the biologists who began studying heredity, variation, and evolution using the new Mendelian methodology—performing controlled hybrid crosses and statistically analyzing progeny to note the factorial basis of characters—made great progress. By 1910, the validity of Mendelism was widely recognized and the field William Bateson christened `genetics' was complemented by the chromosome theory of heredity of T. H. Morgan and his group in the United States. Historians, however, have largely overlooked an important factor in the early establishment of Mendelism and genetics: the large number of women who contributed to the various research groups. This article examines the social, economic, and disciplinary context behind this new wave of women's participation in science and describes the work of women Mendelians and geneticists employed at three leading experimental research institutes, 1900-1940. It argues that the key to more women working in science was the access to higher education and the receptivity of emerging interdisciplinary fields such as genetics to utilize the expertise of women workers, which not only advanced the discipline but also provided new opportunities for women's employment in science.

  7. A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cancer

    International Nuclear Information System (INIS)

    Nelson, Stephanie E; Gould, Michael N; Hampton, John M; Trentham-Dietz, Amy

    2005-01-01

    Overexpression of the HER2 proto-oncogene in human cancer cells has been associated with a poor prognosis, and survival improves with therapy targeting the HER2 gene. Animal studies and protein modeling suggest that the Ile655Val polymorphism located in the transmembrane domain of the HER2 protein might influence breast cancer development by altering the efficiency of homodimerization. To investigate this genetic polymorphism, incident cases of invasive breast cancer (N = 1,094) and population controls of a similar age (N = 976) were interviewed during 2001 to 2003 regarding their risk factors for breast cancer. By using DNA collected from buccal samples mailed by the participants, the HER2 Ile655Val polymorphism was evaluated with the Applied Biosystems allelic discrimination assay. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were estimated by logistic regression adjusted for numerous breast cancer risk factors. Analysis was restricted to women with self-reported European descent. Prevalence of the Val/Val genotype was 5.6% in cases and 7.1% in controls. In comparison with the Ile/Ile genotype, the Ile/Val genotype was not significantly associated with breast cancer risk (OR 0.97, 95% CI 0.79 to 1.18), whereas the Val/Val genotype was associated with a reduced risk (OR 0.63, 95% CI 0.42 to 0.92). This inverse association seemed strongest in older women (OR 0.51, 95% CI 0.29 to 0.89 for women aged more than 55 years), women without a family history of breast cancer (OR 0.54, 95% CI 0.35 to 0.84), postmenopausal women with greater body mass index (OR 0.43, 95% CI 0.20 to 0.91 for a body mass index of 25.3 kg/m 2 or more), and cases diagnosed with non-localized breast cancer (OR 0.49, 95% CI 0.26 to 0.90). Although results from our population-based case-control study show an inverse association between the HER2 Ile655Val polymorphism and risk of invasive breast cancer, most other studies of this single-nucleotide polymorphism suggest an overall null

  8. Maternal complication prevention: evidence from a case-control study in southwest Nigeria

    Directory of Open Access Journals (Sweden)

    Kayode O. Osungbade

    2014-12-01

    Full Text Available Background: The importance of strengthening maternal health services as a preventive intervention for morbidities and complications during pregnancy and delivery in developing countries cannot be over-emphasised, since use of prenatal health services improves maternal health outcomes. Aim: This study investigated differences in risk factors for maternal complications in booked and unbooked pregnant women in Nigeria, and provided evidence for their prevention. Setting: The study was carried out in a postnatal ward in a secondary health facility. Methods: This was a case-control study involving booked and unbooked pregnant women who had delivered. Consecutive enrolment of all unbooked pregnant women (cases was done, and one booked pregnant woman (control was enrolled and matched for age with each of these. Both groups were interviewed using a questionnaire, whilst records of delivery were extracted from the hospital files. Findings were subjected to logistical regression at a significance level of p < 0.05. Results: Booked women had a lower median length of labour (10 hours compared to unbooked women (13 hours. More women in the booked control group (139; 35.1% than in the unbooked case group (96; 23.6% reported at least one type of morbidity during the index pregnancy (p = 0.0004. Booking status was associated with a likelihood of spontaneous vaginal delivery. Young maternal age, low education, rural residence and low socio-economic status were associated with less likelihood of using prenatal services. Young maternal age, low education and intervention in the delivery were associated with a likelihood of experiencing a complication of delivery. Conclusion: Strengthening antenatal and secondary healthcare services as short- and mediumterm measures might be cost-effective as a preventive strategy in complications of pregnancy,whilst socio-economic dimensions of health are accorded priority in the long term.

  9. Neuroscientific and behavioral genetic information in criminal cases in the Netherlands.

    Science.gov (United States)

    de Kogel, C H; Westgeest, E J M C

    2015-11-01

    In this contribution an empirical approach is used to gain more insight into the relationship between neuroscience and criminal law. The focus is on case law in the Netherlands. Neuroscientific information and techniques have found their way into the courts of the Netherlands. Furthermore, following an Italian case in which a mentally ill offender received a penalty reduction in part because of a 'genetic vulnerability for impulsive aggression', the expectation was expressed that such 'genetic defenses' would appear in the Netherlands too. To assess how neuroscientific and behavioral genetic information are used in criminal justice practice in the Netherlands, we systematically collect Dutch criminal cases in which neuroscientific or behavioral genetic information is introduced. Data and case law examples are presented and discussed. Although cases are diverse, several themes appear, such as prefrontal brain damage in relation to criminal responsibility and recidivism risk, and divergent views of the implications of neurobiological knowledge about addiction for judging criminal responsibility. Whereas in the international 'neurolaw literature' the emphasis is often on imaging techniques, the Dutch findings also illustrate the role of neuropsychological methods in criminal cases. Finally, there appears to be a clear need of practice oriented instruments and guidelines.

  10. The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study

    LENUS (Irish Health Repository)

    Chappell, Sally L

    2011-02-14

    Abstract Background Genetic factors are known to contribute to COPD susceptibility and these factors are not fully understood. Conflicting results have been reported for many genetic studies of candidate genes based on their role in the disease. Genome-wide association studies in combination with expression profiling have identified a number of new candidates including IREB2. A meta-analysis has implicated transforming growth factor beta-1 (TGFbeta1) as a contributor to disease susceptibility. Methods We have examined previously reported associations in both genes in a collection of 1017 white COPD patients and 912 non-diseased smoking controls. Genotype information was obtained for seven SNPs in the IREB2 gene, and for four SNPs in the TGFbeta1 gene. Allele and genotype frequencies were compared between COPD cases and controls, and odds ratios were calculated. The analysis was adjusted for age, sex, smoking and centre, including interactions of age, sex and smoking with centre. Results Our data replicate the association of IREB2 SNPs in association with COPD for SNP rs2568494, rs2656069 and rs12593229 with respective adjusted p-values of 0.0018, 0.0039 and 0.0053. No significant associations were identified for TGFbeta1. Conclusions These studies have therefore confirmed that the IREB2 locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.

  11. Women and tobacco: a call for including gender in tobacco control research, policy and practice.

    Science.gov (United States)

    Amos, Amanda; Greaves, Lorraine; Nichter, Mimi; Bloch, Michele

    2012-03-01

    Female smoking is predicted to double between 2005 and 2025. There have been numerous calls for action on women's tobacco use over the past two decades. In the present work, evidence about female tobacco use, progress, challenges and ways forward for developing gendered tobacco control is reviewed. Literature on girls, women and tobacco was reviewed to identify trends and determinants of tobacco use and exposure, the application of gender analysis, tobacco marketing, the impact of tobacco control on girls and women and ways to address these issues particularly in low-income and middle-income countries. Global female tobacco use is increasingly complex, involving diverse products and factors including tobacco marketing, globalisation and changes in women's status. In high-income countries female smoking is declining but is increasingly concentrated among disadvantaged women. In low-income and middle-income countries the pattern is more complex; in several regions the gap between girls' and boys' smoking is narrow. Gendered analyses and approaches to tobacco control are uncommon, especially in low-income and middle-income countries. Tobacco control has remained largely gender blind, with little recognition of the importance of understanding the context and challenges of girl's and women's smoking and secondhand smoke exposure. There has been little integration of gender considerations in research, policy and programmes. The present work makes a case for gender and diversity analyses in tobacco control to reflect and identify intersecting factors affecting women's tobacco use. This will help animate the WHO Framework Convention on Tobacco Control's concern for gender specificity and women's leadership, and reduce the impact of tobacco on women.

  12. Risk factors for posterior vitreous detachment: a case-control study.

    Science.gov (United States)

    Chuo, Jean Y; Lee, Tracy Y Y; Hollands, Hussein; Morris, Andrew H; Reyes, Romina C; Rossiter, Jonathan D; Meredith, Sarah P; Maberley, David A L

    2006-12-01

    To identify possible risk factors for the development of posterior vitreous detachment (PVD). Retrospective case-control study. A total of 138 cases with PVD and 114 age-matched controls were accrued from two different sites. Demographic, medical, ocular, and lifestyle data were obtained through chart review, questionnaires, and clinical examination. A 108-item semiquantitative food frequency questionnaire was also used to estimate macro- and micronutrient intake. Univariate and multivariate regression analyses were employed to identify variables significantly associated with the main outcome measure of PVD. Subgroup analysis of gender-specific variables was performed. Among all patients, multivariate regression analysis demonstrated female gender (odds ratio [OR] = 2.01, P = .016), myopic refraction (OR = 4.32, P < .0005), and higher intake of vitamin B6 (OR = 2.61, P = .001) to be associated with PVD after controlling for age. In the subgroup analysis of women, menopause (OR = 18.2, P < .0005), myopic refraction (OR = 3.42, P = .01), and higher intake of vitamin B6 (OR = 3.92, P = .005) were associated with PVD. Specifically, there was a significant association between vitamin B6 and PVD amongst premenopausal women but not amongst postmenopausal women. An association between PVD and menopause has not been documented previously. We suspect that high estrogen levels seen in premenopausal women may be protective against PVD and that hormonal changes associated with menopause may lead to changes in the vitreous, predisposing to PVD. Higher levels of intake of vitamin B6 were also associated with the development of PVD in premenopausal women possibly through an anti-estrogen effect. These findings should be investigated further with prospective studies.

  13. Association of Serum Uric Acid with Preeclampsia: A Case Control Study

    Directory of Open Access Journals (Sweden)

    Razia Sultana

    2013-07-01

    Full Text Available Background: Preeclampsia (PE is still one of the important causes of maternal and fetal mortality in Bangladesh. Many researches have been done to identify a unique screening test that would predict the risk of developing PE before the classic symptoms appear. One of the most accessible and easiest screening tests is serum uric acid measurement. Numerous studies have demonstrated a relation between elevated maternal serum uric acid levels and adverse maternal and fetal outcome. Among several pathophysiologic factors the most commonly accepted explanation for hyperuricemia in PE is increased reabsorption and decreased excretion of uric acid.Objective: The aim of the present study was to assess the association of serum uric acid with preeclampsia.Materials and method: A case control study was conducted in the department of Biochemistry, Dhaka Medical College, Dhaka from July 2010 to June 2011. A total number of 100 pregnant women in third trimester of pregnancy attending in Obstetrics and Gynaecology department of Dhaka Medical College Hospital were selected purposively as study subjects. Among them 50 pregnant women with preeclampsia were selected as cases and 50 normal healthy pregnant women as controls.Results: Most of the study subjects were within 21 – 30 years of age group and mean age in case and control was 24.06±3.71 and 24.66±3.22 years respectively, which was not statistically different. Mean gestational age in case and control was 33.50±2.55 weeks and 33.60±2.95 weeks respectively, which was also not statistically different. Among the study subjects majority was primi in both groups (case 76%, contol 58% showing no statistical significance. Majority of the subjects in both groups were irregular in their antenatal checkup (case 52%, contol 40%. Uric acid concentration was measured in all the study subjects. The mean serum uric acid concentration in cases and controls were 7.01±1.90 mg/dl and 4.55±1.63 mg/dl respectively. This

  14. Reactor controller design using genetic algorithm with simulated annealing

    International Nuclear Information System (INIS)

    Willjuice Iruthyarajan, M.

    2012-01-01

    Many reactor control design work, specifically the problem of synthesis and optimization of reactor networks involving the classical reaction schemes was studied, considering a superstructure formed by a CSTR and a PFR and their possible arrangements. A genetic algorithm was proposed, together with a systematic procedure. Two case studies were solved with the proposed systematic. Both of them present similar results than the published in the literature. The first case studied was the Trambouze reaction scheme. Although selectivity values are smaller then the values published in the referred papers, the reactors system combined volume is always minor them the other ones. The second case studied was the Van de Vusse reaction scheme. In this case, the obtained value for the total volume is always minor then the considered papers. One can conclude that when compared with the other works presented in the literature results are compatible and very interesting. The developed algorithms can be used as a good alternative for reactor networks design and optimization problem

  15. Genetic test feedback with weight control advice: study protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Meisel Susanne F

    2012-12-01

    Full Text Available Abstract Background Genetic testing for risk of weight gain is already available over the internet despite uncertain benefits and concerns about adverse emotional or behavioral effects. Few studies have assessed the effect of adding genetic test feedback to weight control advice, even though one of the proposed applications of genetic testing is to stimulate preventive action. This study will investigate the motivational effect of adding genetic test feedback to simple weight control advice in a situation where weight gain is relatively common. Methods/design First-year university students (n = 800 will be randomized to receive either 1 their personal genetic test result for a gene (FTO related to weight gain susceptibility in addition to a leaflet with simple weight control advice (‘Feedback + Advice’ group, FA, or 2 only the leaflet containing simple weight control advice (‘Advice Only’ group, AO. Motivation to avoid weight gain and active use of weight control strategies will be assessed one month after receipt of the leaflet with or without genetic test feedback. Weight and body fat will be measured at baseline and eight months follow-up. We will also assess short-term psychological reactions to the genetic test result. In addition, we will explore interactions between feedback condition and gene test status. Discussion We hope to provide a first indication of the clinical utility of weight-related genetic test feedback in the prevention context. Trial registration Current controlled trials ISRCTN91178663

  16. The diagnostic role of cervico-vaginal fluid interleukins-1α in endometriosis: A case-control study

    OpenAIRE

    Farahnaz Mardanian; Zahra Sheikh-Soleimani

    2014-01-01

    Background: Endometriosis is a chronic and progressive gynecological disorder and is manifest by dysmenorrhea and a major cause of infertility and chronic pelvic pain. The study was designed to compare the value of cervico-vaginal fluid of interleukin-1? (IL-1?) in patients with and without endometriosis. Materials and Methods: Fifty women were assessed in this case control study. The case group included 25 patients with endometriosis. The control group included 25 women without any evidence ...

  17. Conventional radiology and genetic dose

    International Nuclear Information System (INIS)

    Gonzalez-Vila, V.; Fernandez, A.; Rivera, F.; Martinez, M.; Gomez, A.; Luis, J.

    1992-01-01

    A research project was established in 1984 to evaluate the expected genetic abnormalities due to radiation received by the population attending the Outpatient Radiological Service due to medical radiological practices. The study was conducted in 1985 (12 weeks chosen by random). The equivalent gonadal dose was the chosen parameter, representing the social cost of the radiology. Samples of 2945 men and 2929 women were considered in the study. The number of genetic abnormalities, in relation to the mean age of reproduction (a generation every 30 years), was 2.13 cases per million in the first generation and 15.97 cases per million at equilibrium. The authors interpretation is that both the method and the expected genetic detriment are suitable procedures for the characterisation of the Radiological Service as a radiation source. (author)

  18. Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: a case control study

    International Nuclear Information System (INIS)

    Skjelbred, Camilla F; Sæbø, Mona; Nexø, Bjørn A; Wallin, Håkan; Hansteen, Inger-Lise; Vogel, Ulla; Kure, Elin H

    2006-01-01

    The risk of sporadic colorectal cancer is mainly associated with lifestyle factors and may be modulated by several genetic factors of low penetrance. Genetic variants represented by single nucleotide polymorphisms in genes encoding key players in the adenoma carcinoma sequence may contribute to variation in susceptibility to colorectal cancer. In this study, we aimed to evaluate whether the recently identified haplotype encompassing genes of DNA repair and apoptosis, is associated with increased risk of colorectal adenomas and carcinomas. We used a case-control study design (156 carcinomas, 981 adenomas and 399 controls) to test the association between polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes ERCC1, ASE-1 and RAI, and risk of colorectal adenomas and carcinomas in a Norwegian cohort. Odds ratio (OR) and 95% confidence interval (CI) were estimated by binary logistic regression model adjusting for age and gender. The ASE-1 polymorphism was associated with an increased risk of adenomas, OR of 1.39 (95% CI 1.06–1.81), which upon stratification was apparent among women only, OR of 1.66 (95% CI 1.15–2.39). The RAI polymorphism showed a trend towards risk reduction for both adenomas (OR of 0.70, 95% CI 0.49–1.01) and carcinomas (OR of 0.49, 95% CI 0.21–1.13) among women, although not significant. Women who were homozygous carriers of the high risk haplotype had an increased risk of colorectal cancer, OR of 2.19 (95% CI 0.95–5.04) compared to all non-carriers although the estimate was not statistically significant. We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women

  19. Women-Only Tourism: Agency and Control in Women's Leisure

    Directory of Open Access Journals (Sweden)

    Diane Levy

    2013-10-01

    Full Text Available A trend in the travel industry has been the growth of tours marketed for women only. These often involve travel with the goal of learning new skills, developing competence, or sharing group experiences. In this study, I analyze these tours using feminist leisure theory to illustrate how women are using their agency to take control of their own leisure. Using interviews with tour participants and participant observation, I conclude that taking part in a women-only tour is a unique leisure experience with the ability to remove women from the constraints of everyday role expectations and offer them opportunities to assert independence and develop life skills that are potentially life changing and empowering.

  20. Effect of decision aid for breast cancer prevention on decisional conflict in women with a BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial.

    Science.gov (United States)

    Metcalfe, Kelly A; Dennis, Cindy-Lee; Poll, Aletta; Armel, Susan; Demsky, Rochelle; Carlsson, Lindsay; Nanda, Sonia; Kiss, Alexander; Narod, Steven A

    2017-03-01

    Women with a BRCA1 or BRCA2 mutation are at high risk for breast cancer and must make important decisions about breast cancer prevention and screening. In the current study, we report a multisite, randomized, controlled trial evaluating the effectiveness of a decision aid for breast cancer prevention in women with a BRCA mutation with no previous diagnosis of cancer. Within 1 month of receiving a positive BRCA result, women were randomized to receive either usual care (control group) or decision aid (intervention group). Participants were followed at 3, 6, and 12 months; were asked about preventive measures; and completed standardized questionnaires assessing decision making and psychosocial functioning. One hundred fifty women were randomized. Mean cancer-related distress scores were significantly lower in the intervention group compared with the control group at 6 months (P = 0.01) and at 12 months postrandomization (P = 0.05). Decisional conflict scores declined over time for both groups and at no time were there statistical differences between the two groups. The decision aid for breast cancer prevention in women with a BRCA1 or BRCA2 mutation is effective in significantly decreasing cancer-related distress within the year following receipt of positive genetic test results.Genet Med 19 3, 330-336.

  1. Associations of neonatal high birth weight with maternal pre-pregnancy body mass index and gestational weight gain: a case-control study in women from Chongqing, China.

    Science.gov (United States)

    Xie, Yao Jie; Peng, Rong; Han, Lingli; Zhou, Xiaoli; Xiong, Zhengai; Zhang, Yuan; Li, Junnan; Yao, Ruoxue; Li, Tingyu; Zhao, Yong

    2016-08-16

    To examine the associations of maternal pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) with neonatal high birth weight (HBW) in a sample of Chinese women living in southwest China. A hospital-based case-control study was conducted in Chongqing, China. A total of 221 mothers who delivered HBW babies (>4.0 kg) were recruited as cases and 221 age-matched (2-year interval) mothers with normal birth weight babies (2.5-4.0 kg) were identified as controls. ORs were estimated using conditional logistic regression analysis. For the analysis, pre-pregnancy BMI was categorised as underweight/normal weight/overweight and obesity and GWG was categorised as inadequate/appropriate/excessive. Among the cases, mean pre-pregnancy BMI was 21.8±2.8 kg/m(2), mean GWG was 19.7±5.1 kg and mean neonatal birth weight was 4.2±0.2 kg. In the controls, the corresponding values were 21.1±3.1 kg/m(2), 16.4±5.0 kg and 3.3±0.4 kg, respectively. More cases than controls gained excessive weight during pregnancy (80.1% vs 48.4%, p0.05). GWG was positively related to HBW after adjustment for gravidity, gestational age, newborns' gender and family income (OR=1.18, 95% CI 1.12 to 1.25; pweight women (OR=10.27, 95% CI 3.20 to 32.95; p<0.001). Overall, the findings suggest a significantly positive association between GWG and HBW. However, pre-pregnancy BMI shows no independent relationship with HBW. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  2. Genetic Algorithms for Case Adaptation

    Energy Technology Data Exchange (ETDEWEB)

    Salem, A M [Computer Science Dept, Faculty of Computer and Information Sciences, Ain Shams University, Cairo (Egypt); Mohamed, A H [Solid State Dept., (NCRRT), Cairo (Egypt)

    2008-07-01

    Case based reasoning (CBR) paradigm has been widely used to provide computer support for recalling and adapting known cases to novel situations. Case adaptation algorithms generally rely on knowledge based and heuristics in order to change the past solutions to solve new problems. However, case adaptation has always been a difficult process to engineers within (CBR) cycle. Its difficulties can be referred to its domain dependency; and computational cost. In an effort to solve this problem, this research explores a general-purpose method that applying a genetic algorithm (GA) to CBR adaptation. Therefore, it can decrease the computational complexity of the search space in the problems having a great dependency on their domain knowledge. The proposed model can be used to perform a variety of design tasks on a broad set of application domains. However, it has been implemented for the tablet formulation as a domain of application. The proposed system has improved the performance of the CBR design systems.

  3. Genetic Algorithms for Case Adaptation

    International Nuclear Information System (INIS)

    Salem, A.M.; Mohamed, A.H.

    2008-01-01

    Case based reasoning (CBR) paradigm has been widely used to provide computer support for recalling and adapting known cases to novel situations. Case adaptation algorithms generally rely on knowledge based and heuristics in order to change the past solutions to solve new problems. However, case adaptation has always been a difficult process to engineers within (CBR) cycle. Its difficulties can be referred to its domain dependency; and computational cost. In an effort to solve this problem, this research explores a general-purpose method that applying a genetic algorithm (GA) to CBR adaptation. Therefore, it can decrease the computational complexity of the search space in the problems having a great dependency on their domain knowledge. The proposed model can be used to perform a variety of design tasks on a broad set of application domains. However, it has been implemented for the tablet formulation as a domain of application. The proposed system has improved the performance of the CBR design systems

  4. Genetic design of interpolated non-linear controllers for linear plants

    International Nuclear Information System (INIS)

    Ajlouni, N.

    2000-01-01

    The techniques of genetic algorithms are proposed as a means of designing non-linear PID control systems. It is shown that the use of genetic algorithms for this purpose results in highly effective non-linear PID control systems. These results are illustrated by using genetic algorithms to design a non-linear PID control system and contrasting the results with an optimally tuned linear PID controller. (author)

  5. The risk of menstrual abnormalities after tubal sterilization: a case control study

    Directory of Open Access Journals (Sweden)

    AtashKhoii Simin

    2005-05-01

    Full Text Available Abstract Background Tubal sterilization is the method of family planning most commonly used. The existence of the post-tubal-ligation syndrome of menstrual abnormalities has been the subject of debate for decades. Methods In a cross-sectional study, 112 women with the history of Pomeroy type of tubal ligation achieved by minilaparatomy as the case group and 288 women with no previous tubal ligation as the control group were assessed for menstrual abnormalities. Results Menstrual abnormalities were not significantly different between the case and control groups (p = 0.824. The abnormal uterine bleeding frequency differences in two different age groups (30–39 and 40–45 years old were statistically significant (p = 0.0176. Conclusion Tubal sterilization does not cause menstrual irregularities.

  6. Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

    Directory of Open Access Journals (Sweden)

    Umaima Al-Alem

    Full Text Available Non-Hispanic (nH Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.We used a panel of 100 ancestry informative markers (AIMs to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92 among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95 among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02 and higher grade (p = 0.012 in nH Whites and later stage (p = 0.03 in nH Blacks.Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

  7. Level of awareness of genetic counselling in Lagos, Nigeria: its ...

    African Journals Online (AJOL)

    SERVER

    2007-12-17

    Dec 17, 2007 ... The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; .... should also be a safe and supportive environment in the ... genetic counselling where he/she had received the genetic coun- .... that is commonly recommended for pregnant women is.

  8. Reactor controller design using genetic algorithms with simulated annealing

    International Nuclear Information System (INIS)

    Erkan, K.; Buetuen, E.

    2000-01-01

    This chapter presents a digital control system for ITU TRIGA Mark-II reactor using genetic algorithms with simulated annealing. The basic principles of genetic algorithms for problem solving are inspired by the mechanism of natural selection. Natural selection is a biological process in which stronger individuals are likely to be winners in a competing environment. Genetic algorithms use a direct analogy of natural evolution. Genetic algorithms are global search techniques for optimisation but they are poor at hill-climbing. Simulated annealing has the ability of probabilistic hill-climbing. Thus, the two techniques are combined here to get a fine-tuned algorithm that yields a faster convergence and a more accurate search by introducing a new mutation operator like simulated annealing or an adaptive cooling schedule. In control system design, there are currently no systematic approaches to choose the controller parameters to obtain the desired performance. The controller parameters are usually determined by test and error with simulation and experimental analysis. Genetic algorithm is used automatically and efficiently searching for a set of controller parameters for better performance. (orig.)

  9. Associations of sex hormone-binding globulin and testosterone with diabetes among men and women (the Saku Diabetes study: a case control study

    Directory of Open Access Journals (Sweden)

    Goto Atsushi

    2012-10-01

    Full Text Available Abstract Background Sex hormone-binding globulin (SHBG levels and sex hormones have been implicated in the pathogenesis of type 2 diabetes and cardiovascular diseases. As fatty liver has been suggested to be a major determinant of SHBG levels, we examined whether the associations of SHBG and testosterone with diabetes were independent of fatty liver. Methods We conducted a case–control study that included 300 diabetes cases (215 men and 85 women and 300 matched controls from the Saku cohort study. Diabetes was defined by either fasting plasma glucose levels ≥126 mg/dL, 2-h post-load glucose levels ≥200 mg/dL after a 75 g oral glucose tolerance test, or diabetes diagnosed by physicians. We fitted conditional logistic regression models to examine the associations between SHBG and total testosterone levels with diabetes by sex. To evaluate the impact of fatty liver, we used the fatty liver index (FLI, a validated measure derived from serum triglyceride levels, body mass index (BMI, waist circumference, and γ-glutamyltransferase levels. Results After adjusting for age, family history of diabetes, smoking, physical activity, BMI, and FLI, SHBG levels were inversely associated with diabetes among women (odds ratio [OR] comparing the highest with the lowest quartiles, 0.13 [95% confidence interval {CI}, 0.02–0.96], but not among men. Similar patterns were observed in a subgroup analysis restricted to postmenopausal women"(OR, 0.12 [95% CI, 0.01–1.17]. In contrast, testosterone levels were inversely associated with diabetes among men (OR, 0.45 [95% CI, 0.23–0.89], but not among women. Conclusions Our findings suggest that SHBG in women and testosterone in men may be inversely associated with diabetes.

  10. Biochemical Predictors of Low Bone Mineral Density and Fracture Susceptibility in Maltese Postmenopausal Women.

    Science.gov (United States)

    Formosa, Melissa M; Xuereb-Anastasi, Angela

    2016-01-01

    Osteoporosis and fractures are complex conditions influenced by an interplay of genetic and environmental factors. The aim of the study was to investigate three biochemical parameters including total serum calcium, total serum alkaline phosphatase (sALP) and albumin in relation to bone mineral density (BMD) at the lumbar spine and femoral neck (FN), and with all-type of low-trauma fractures in Maltese postmenopausal women. Levels were also correlated with age and physical activity. A case-control study of 1045 women was performed. Women who suffered a fracture were classified as cases whereas women without a fracture history were included as controls subdivided into normal, osteopenic, or osteoporotic according to their BMD measurements. Blood specimens were collected following good standard practice and testing was performed by spectrophotometry. Calcium and sALP levels were weakly correlated with FN BMD levels (calcium: r = -0.111, p = 0.002; sALP: r = 0.089, p = 0.013). Fracture cases had the lowest serum levels of calcium, sALP and albumin relative to all other control groups, which decreased with increasing age, possibly increasing fracture risk. Biochemical levels were lowest in women who sustained a hip fracture and more than one fracture. Biochemical parameters decreased with reduced physical activity; however, this was most evident for fracture cases. Reduced physical activity was associated with lower BMD levels at the hip, and to a lower extent at the spine. In conclusion, results suggest that levels of serum calcium and albumin could be indicative of fracture risk, whereas calcium levels and to lower extent sALP levels could be indicators of hip BMD.

  11. Associations between antioxidant vitamins and the risk of invasive cervical cancer in Chinese women: A case-control study.

    Science.gov (United States)

    Guo, Liyuan; Zhu, Hong; Lin, Chengjun; Che, Jianhua; Tian, Xiujuan; Han, Shiyu; Zhao, Honghui; Zhu, Yumei; Mao, Dongwei

    2015-09-04

    Previous studies on the associations between dietary antioxidant vitamins and the risk of cervical cancer remain inconsistent, and little evidence is available for serum antioxidant vitamins, which provide more accurate measurements of these nutrients. We conducted a case-control study of 458 incident cases with invasive cervical cancer and 742 controls to assess the effects of diet or serum antioxidant vitamins. Higher serum antioxidant vitamins were associated with a lower risk of cervical cancer after adjusting for potential confounders. The odds ratios (ORs) for the highest (vs. lowest) quartile were 0.66 (95% confidence interval [CI] = 0.46-0.93; P = 0.024) for α-carotene, 0.63 (95% CI = 0.45-0.90; P = 0.006) for β-carotene, 0.53 (95% CI = 0.37-0.74; P vitamin E, and 0.48 (95% CI = 0.33-0.69; P vitamin C. Dietary intakes of vitamins E and C were inversely associated with the risk of cervical cancer. Risk of cervical cancer from serum antioxidant vitamins was more evident in passive smokers than non-passive smokers. These findings indicated that antioxidant vitamins (mainly α-carotene, β-carotene, and vitamins E and C) might be beneficial in reducing the risk of invasive cervical cancer in Chinese women, especially in passive smokers.

  12. A case control study of risk factors associated with female breast cancer

    International Nuclear Information System (INIS)

    Nazir, N.; Waheed, A.; Farhat, K.; Ismail, M.

    2015-01-01

    To find the association of various risk factors with breast cancer. Study Design: It was a case-control study. Place and Duration of Study: The study was carried out in NORI Hospital Islamabad and Combined Military Hospital Rawalpindi between August, 2013 and February, 2014. Material and Methods: Two hundred breast cancer patients and 200 control subjects were inducted. A short approved and planned questionnaire was used to collect data regarding basic demographic, menstrual and reproductive characteristics of participating females. Cases and controls were then interviewed after taking written consent. Results: Breast cancer patients and control subjects did not differ regarding age (p = 0.15), early menarche (OR for menarche at <13 years vs. ?13=1.3, 95% CI = 0.84 - 2.02), and history of breast cancer in 1st degree relatives did not increase breast cancer risk (OR = 1.0, 95% CI = 0.57 - 1.74). Nulliparous women had significantly higher risk than parous women (OR = 2.43, 95% CI = 1.22 - 4.84) and women with late menopause compared to women with early onset of menopause were also at higher risk for breast cancer (OR for menopause at ? 50 vs. < 50 = 5.16, 95% CI = 2.59 - 10.29). Conclusion: Nulliparity and menopausal age of more than 50 years was associated with increased breast cancer risk. Breast feeding and age less than 25 years at first live birth was not protective against breast cancer. (author)

  13. Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study

    Directory of Open Access Journals (Sweden)

    Ding YP

    2014-12-01

    Full Text Available Yipeng Ding,1,* Danlei Yang,2,* Xiaojie Xun,3 Zhifeng Wang,4 Pei Sun,1 Dongchuan Xu,1 Ping He,1 Huan Niu,1 Tianbo Jin3,5 1Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China; 2Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 3School of Life Sciences, Northwest University, Xi'an, People’s Republic of China; 4Department of Respiration, People’s Hospital of Qionghai, Qionghai, Hainan, People’s Republic of China; 5National Engineering Research Center for Miniaturized Detection Systems, Xi'an, People’s Republic of China *The authors are joint first authors Purpose: Chronic obstructive pulmonary disease (COPD is predicted to become the third most common cause of death and the fifth most common cause of disability in the world by 2020. Recently, variants in the hypoxia-inducible factor 1α (HIF1A, cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, and iron-responsive element-binding protein 2 gene (IREB2 genes were found to be associated with COPD. This study aims to identify whether the variations in these genes are related to COPD in the Hainan population of the People’s Republic of China. Patients and methods: We genotyped 12 single nucleotide polymorphisms in a case-control study with 200 COPD cases and 401 controls from Hainan, People’s Republic of China. Odds ratios and 95% confidence intervals were estimated using the chi-squared (Χ2 test, genetic model analysis, haplotype analysis, and stratification analysis. Results: In the genetic model analysis, we found that the genotype T/T of rs13180 of IREB2 decreased the COPD risk by 0.52-fold (P=0.025. But in the further stratification analysis, we failed to find the association between the selected single nucleotide polymorphisms with COPD risk in Han population. In addition, the haplotype

  14. Analysis of single nucleotide polymorphisms in case-control studies.

    Science.gov (United States)

    Li, Yonghong; Shiffman, Dov; Oberbauer, Rainer

    2011-01-01

    Single nucleotide polymorphisms (SNPs) are the most common type of genetic variants in the human genome. SNPs are known to modify susceptibility to complex diseases. We describe and discuss methods used to identify SNPs associated with disease in case-control studies. An outline on study population selection, sample collection and genotyping platforms is presented, complemented by SNP selection, data preprocessing and analysis.

  15. The obstetric performance of United Kingdom asylum seekers from Somalia: a case-control study and literature review.

    Science.gov (United States)

    Yoong, W; Kolhe, S; Karoshi, Mahantesh; Ullah, M; Nauta, M

    2005-01-01

    Little published research exists regarding obstetric performance of immigrant women in the United Kingdom. The aim of this study was to evaluate the obstetric performance and fetal outcomes of Somalian women who received prenatal care and requested to deliver at a teaching hospital in North London. This is a case-control study in which consecutive Somalian women were identified as index cases and the subsequent British-born Caucasian women listed in the delivery book served as controls. 69 index and 69 control cases were analyzed. Fifty-five percent of the Somalian women spoke little or no English. Half (50%) had undergone circumcision, the majority being type I WHO classification of female genital circumcision, which did not require significant surgical intervention prior to labor; 13% had cesarean sections, 13% instrumental vaginal deliveries, and 74% had vaginal deliveries. The Somalian women had higher parity (2.35 vs. 1.18) and were more likely to be grand multiparous (9/69 vs. 1/69) compared to controls. Epidural use was less frequent in Somalian women, but otherwise there were no significant differences between the two groups with regard to maternal age, rates of induction of labor, cesarean sections, duration of labor, premature deliveries, instrumental deliveries, and birth weights. The demographic characteristics of the Somalian female population appear to exert minimal effect on obstetric and fetal outcomes. This may be due to the increased vigilance exercised by health professionals as well as to the fact that recent arrivals are from more urban and westernized areas in Somalia.

  16. Alcohol-related breast cancer in postmenopausal women – effect of CYP19A1, PPARG and PPARGC1A polymorphisms on female sex-hormone levels and interaction with alcohol consumption and NSAID usage in a nested case-control study and a randomised controlled trial

    International Nuclear Information System (INIS)

    Kopp, Tine Iskov; Jensen, Ditte Marie; Ravn-Haren, Gitte; Cohen, Arieh; Sommer, Helle Molgaard; Dragsted, Lars Ove; Tjonneland, Anne; Hougaard, David Michael; Vogel, Ulla

    2016-01-01

    Alcohol consumption is associated with increased risk of breast cancer (BC), and the underlying mechanism is thought to be sex-hormone driven. In vitro and observational studies suggest a mechanism involving peroxisome proliferator-activated receptor gamma (PPARγ) in a complex with peroxisome proliferator-activated receptor gamma coactivator 1-α (PGC-1α) and interaction with aromatase (encoded by CYP19A1). Use of non-steroidal anti-inflammatory drugs (NSAID) may also affect circulating sex-hormone levels by modifying PPARγ activity. In the present study we assessed whether genetic variation in CYP19A1 is associated with risk of BC in a case-control study group nested within the Danish “Diet, Cancer and Health” cohort (n cases = 687 and n controls = 687) and searched for gene-gene interaction between CYP19A1 and PPARGC1A, and CYP19A1 and PPARG, and gene-alcohol and gene-NSAID interactions. Association between the CYP19A1 polymorphisms and hormone levels was also examined among 339 non-HRT users. Incidence rate ratios were calculated based on Cox’ proportional hazards model. Furthermore, we performed a pilot randomised controlled trial to determine the effect of the PPARG Pro 12 Ala polymorphism and the PPARγ stimulator Ibuprofen on sex-hormone levels following alcohol intake in postmenopausal women (n = 25) using linear regression. Genetic variations in CYP19A1 were associated with hormone levels (estrone: P rs11070844 = 0.009, estrone sulphate: P rs11070844 = 0.01, P rs749292 = 0.004, P rs1062033 = 0.007 and P rs10519297 = 0.03, and sex hormone-binding globulin (SHBG): P rs3751591 = 0.03) and interacted with alcohol intake in relation to hormone levels (estrone sulphate: P interaction/rs2008691 = 0.02 and P interaction/rs1062033= 0.03, and SHBG: P interaction/rs11070844 = 0.03). CYP19A1/rs3751591 was both associated with SHBG levels (P = 0.03) and with risk of BC (Incidence Rate Ratio = 2.12; 95 % Confidence Interval: 1.02–4.43) such that homozygous

  17. High resolution human leukocyte antigen (HLA) class I and class II allele typing in Mexican mestizo women with sporadic breast cancer: case-control study

    International Nuclear Information System (INIS)

    Cantú de León, David; Yu, Neng; Yunis, Edmond J; Granados, Julio; Pérez-Montiel, Delia; Villavicencio, Verónica; Carranca, Alejandro García; Betancourt, Alejandro Mohar; Acuña-Alonzo, Victor; López-Tello, Alberto; Vargas-Alarcón, Gilberto; Barquera, Rodrigo

    2009-01-01

    The development of breast cancer is multifactorial. Hormonal, environmental factors and genetic predisposition, among others, could interact in the presentation of breast carcinoma. Human leukocyte antigen (HLA) alleles play an important role in immunity (cellular immunity) and may be important genetic traits. HLAAllele-specific interaction has not been well established. Recently, several studies had been conducted in order to do so, but the results are controversial and in some instances contradictory. We designed a case-control study to quantify the association of HLA class I and II genes and breast cancer. HLA typing was performed by high resolution sequence-specific oligotyping after DNA amplification (PCR-SSOP) of 100 breast cancer Mexican mestizo patients and 99 matched healthy controls. HLA-A frequencies that we were able to observe that there was no difference between both groups from the statistical viewpoint. HLA-B*1501 was found three times more common in the case group (OR, 3.714; p = 0.031). HLA-Cw is not a marker neither for risk, nor protection for the disease, because we did not find significant statistical differences between the two groups. DRB1*1301, which is expressed in seven cases and in only one control, observing an risk increase of up to seven times and DRB1*1602, which behaves similarly in being present solely in the cases (OR, 16.701; 95% CI, 0.947 – 294.670). DQ*0301-allele expression, which is much more common in the control group and could be protective for the presentation of the disease (OR, 0.078; 95% CI, 0.027–0.223, p = 0.00001). Our results reveal the role of the MHC genes in the pathophysiology of breast cancer, suggesting that in the development of breast cancer exists a disorder of immune regulation. The triggering factor seems to be restricted to certain ethnic groups and certain geographical regions since the relevant MHC alleles are highly diverse. This is the first study in Mexican population where high resolutions HLA

  18. Endothelial dysfunction and history of recurrent depression in postmenopausal women with Type 2 diabetes: a case-control study.

    Science.gov (United States)

    Wagner, Julie; Tennen, Howard; Mansoor, George; Abbott, Gina

    2009-01-01

    This study of postmenopausal women with Type 2 diabetes mellitus (T2DM) investigated (1) history of depression as a predictor of endothelium-dependent flow-mediated dilation (FMD); (2) the relative associations of single and recurrent depressive disorders with FMD; and (3) cortisol as a potential mechanism. Participants were nonsmoking, naturally postmenopausal women with T2DM with no known vascular disease. All were free of current mood disorder. On average, the 44 participants were 63 years of age, White, diabetic for 6 years, and were in adequate glycemic control. Thirty-eight percent were never depressed, 19% had experienced one disorder, and 43% had experienced recurrent disorders. History of depression was assessed with Structured Clinical Interview for Diagnostic and Statistical Manual-IV. Current depressive symptoms were measured with Center for Epidemiological Studies Depression (CESD) scale. FMD was assessed by standard procedures and calculated as percent change in brachial artery diameter from baseline. Women with history of recurrent depression showed vasoconstriction (mean=-1%), which was significantly different from women with history of single depression (mean=+6) and never depressed women (mean=+5) (Pdiabetes, and glycemic control, history of recurrent depressive disorders predicted greater likelihood of vasoconstriction (P<.05, odds ratio=4.23) but history of single depressive disorder did not. Controlling for current depressive symptoms did not account for effects of past recurrent depressive disorders. Cortisol was not related to FMD. In postmenopausal women with T2DM, recurrent depressive disorders, even in full remission, are associated with endothelial dysfunction. Potential mechanisms of the relationship between depression and endothelial dysfunction other than cortisol warrant investigation.

  19. SERUM PROLACTIN LEVEL IN ACNE PATIENTS VERSUS CONTROL GROUP: STUDY ON 14 TO 35 YEARS OLD WOMEN

    Directory of Open Access Journals (Sweden)

    G FAGHIHI

    2002-03-01

    Full Text Available Introduction. Androgens have a main role in acne pathogenesis. The interaction between prolactin and androgens generate the hypothesis of prolactin role in acne pathogenesis. Methods. In a case - control study, 71 women with modearte to severe acne were compaired with 71 healthy women about their serum prolactin levels. Results. Mean of serum prolactin level was 533 632 miu/lit in cases. Mean of serum prolactin level was 365 363 in control group (P > 0.05. There was a significant correlation between serum prolactin level and severity of acne. Discussion. Despite the non significant difference between serum prolactin level in acne patients and healthy women, thare was a significant relationship between serum prolactin level and severity of acne. It may be due to our small sample size. However, the more powerful studies is needed.

  20. Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

    Science.gov (United States)

    Bravo-Gil, Nereida; González-del Pozo, María; Martín-Sánchez, Marta; Méndez-Vidal, Cristina; Rodríguez-de la Rúa, Enrique; Borrego, Salud; Antiñolo, Guillermo

    2017-01-01

    Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. Although the relative prevalence of each form varies somewhat between populations, a major proportion (41% in Spain) of patients represent simplex cases (sRP) in which the mode of inheritance is unknown. Molecular genetic diagnostic is crucial, but also challenging, for sRP patients because any of the 81 RP genes identified to date may be causative. Herein, we report the use of a customized targeted gene panel consisting of 68 IRD genes for the molecular characterization of 106 sRP cases. The diagnostic rate was 62.26% (66 of 106) with a proportion of clinical refinements of 30.3%, demonstrating the high efficiency of this genomic approach even for clinically ambiguous cases. The high number of patients diagnosed here has allowed us to study in detail the genetic basis of the sRP. The solved sRP cohort is composed of 62.1% of arRP cases, 24.2% of adRP and 13.6% of xlRP, which implies consequences for counselling of patients and families. PMID:28157192

  1. Oral changes in pregnant and nonpregnant women: A case-control study

    Directory of Open Access Journals (Sweden)

    Santosh R Patil

    2013-01-01

    Full Text Available Aim: The numerous changes occurring during pregnancy affect every body system, resulting in localized physical alterations in almost all parts of the body, including the oral cavity. The aim of the present study was to find the incidence of oral conditions seen particularly in the pregnant women than in the nonpregnant women. Materials and Methods: The oral health condition of 120 pregnant women referred to the outpatient department of Jodhpur Dental College General Hospital from a gynecology clinic were examined and compared with 120 nonpregnant women. The pregnant women were divided in a 3 groups of 40 each, according to the stage of pregnancy. The common oral conditions seen during pregnancy were assessed. Results: Pregnant women had a higher incidence of gingivitis and pyogenic granuloma. Gingivitis and erosion of teeth due to vomiting was seen commonly in the 3 rd trimester. The results indicated that pregnancy had an effect on the oral condition, which was mainly due to the hormonal changes seen during this period rather than other factors. Conclusion: Women planning a pregnancy or those already pregnant should be informed about the role of oral health during pregnancy and the possible outcomes of these conditions for the welfare of their foetus. They should be referred to the dental clinician for necessary counselling for preventive oral self-care and treatment, if required.

  2. Violence against Women and Economic Globalization: Case Study of Ciudad Juarez, Mexico

    OpenAIRE

    Robertua, Verdinand

    2012-01-01

    This thesis will look at the international political economy of violence against women. The drastic increase of the case women murder (femicide) in Mexico since 1993 has attracted worldwide attention. It will focus on the influence of international economic institutions (e.g. IMF, World Bank, TNCs) toward the increasing cases of violence against women in Ciudad Juárez, Mexico. This thesis will use case-study research strategy. Ciudad Juarez will be chosen as the case study because it is one o...

  3. Robust reactor power control system design by genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yoon Joon; Cho, Kyung Ho; Kim, Sin [Cheju National University, Cheju (Korea, Republic of)

    1998-12-31

    The H{sub {infinity}} robust controller for the reactor power control system is designed by use of the mixed weight sensitivity. The system is configured into the typical two-port model with which the weight functions are augmented. Since the solution depends on the weighting functions and the problem is of nonconvex, the genetic algorithm is used to determine the weighting functions. The cost function applied in the genetic algorithm permits the direct control of the power tracking performances. In addition, the actual operating constraints such as rod velocity and acceleration can be treated as design parameters. Compared with the conventional approach, the controller designed by the genetic algorithm results in the better performances with the realistic constraints. Also, it is found that the genetic algorithm could be used as an effective tool in the robust design. 4 refs., 6 figs. (Author)

  4. Robust reactor power control system design by genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yoon Joon; Cho, Kyung Ho; Kim, Sin [Cheju National University, Cheju (Korea, Republic of)

    1997-12-31

    The H{sub {infinity}} robust controller for the reactor power control system is designed by use of the mixed weight sensitivity. The system is configured into the typical two-port model with which the weight functions are augmented. Since the solution depends on the weighting functions and the problem is of nonconvex, the genetic algorithm is used to determine the weighting functions. The cost function applied in the genetic algorithm permits the direct control of the power tracking performances. In addition, the actual operating constraints such as rod velocity and acceleration can be treated as design parameters. Compared with the conventional approach, the controller designed by the genetic algorithm results in the better performances with the realistic constraints. Also, it is found that the genetic algorithm could be used as an effective tool in the robust design. 4 refs., 6 figs. (Author)

  5. Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Preeclampsia in Maya Mestizo Women

    Science.gov (United States)

    Díaz-Olguín, Lizbeth; Coral-Vázquez, Ramón Mauricio; Canto-Cetina, Thelma; Canizales-Quinteros, Samuel; Ramírez Regalado, Belem; Fernández, Genny; Canto, Patricia

    2011-01-01

    Preeclampsia is a specific disease of pregnancy and believed to have a genetic component. The aim of this study was to investigate if three polymorphisms in eNOS or their haplotypes are associated with preeclampsia in Maya mestizo women. A case-control study was performed where 127 preeclamptic patients and 263 controls were included. Genotyped and haplotypes for the -768T→C, intron 4 variants, Glu298Asp of eNOS were determined by PCR and real-time PCR allelic discrimination. Logistic regression analysis with adjustment for age and body mass index (BMI) was used to test for associations between genotype and preeclampsia under recessive, codominant and dominant models. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r2, and haplotype analysis was conducted. Women homozygous for the Asp298 allele showed an association of preeclampsia. In addition, analysis of the haplotype frequencies revealed that the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic patients than in controls (0.143 vs. 0.041, respectively; OR = 3.01; 95% CI = 1.74–5.23; P = 2.9 × 10−4). Despite the Asp298 genotype in a recessive model associated with the presence of preeclampsia in Maya mestizo women, we believe that in this population the -786C-4b-Asp298 haplotype is a better genetic marker. PMID:21897002

  6. Copper and selenium levels in women with second-trimester induced abortion in Mazandaran, 2009: A case control study

    Directory of Open Access Journals (Sweden)

    Zoleikha Atarod

    2015-01-01

    Full Text Available Abortion is the termination of a pregnancy by the removal or expulsion of a fetus or embryo from the uterus, resulting in or caused by its death. Missed abortion is the most common dangerous condition in pregnancy. An abortion can occur due to maternal complications, chronic disease, endocrine disorders, abortificient drugs, radiation, heavy metals and toxins. The study population consisted of 43 aborted patients and 43 normal pregnant females, referred to Imam Khomeini hospital. 10 mL blood was taken and centrifuged to isolate the patients’ serum. Then, the samples were analyzed to determine the copper and selenium levels, using atomic absorption spectrometry. All data were statistically analyzed by T-test and Mann-Whitney methods. As a result, we found a significant decrease in serum copper level in cases compared with controls. Also the results showed an insignificant decrease in serum selenium levels in the patients compared to the healthy women. According to the results, deficiency of the essential heavy metals may be a probable reason for missed abortion occurrence. These deficiencies can be related to malnutrition, decreased consumption of essential metals and supplementary compounds in pregnancy, lack of regular laboratory monitoring. Thus, consuming supplements in Iranian pregnant women can be helpful in completing a successful pregnancy.

  7. Case-control Studies on the Effectiveness of Breast Cancer Screening: Insights from the UK Age Trial.

    Science.gov (United States)

    van der Waal, Daniëlle; Broeders, Mireille J M; Verbeek, André L M; Duffy, Stephen W; Moss, Sue M

    2015-07-01

    Ongoing breast cancer screening programs can only be evaluated using observational study designs. Most studies have observed a reduction in breast cancer mortality, but design differences appear to have resulted in different estimates. Direct comparison of case-control and trial analyses gives more insight into this variation. Here, we performed case-control analyses within the randomized UK Age Trial. The Age Trial assessed the effect of screening on breast cancer mortality in women ages 40-49 years. In our approach, case subjects were defined as breast cancer deaths between trial entry (1991-1997) and 2004. Women were ages 39-41 years at entry. For every case subject, five control subjects were selected. All case subjects were included in analyses of screening invitation (356 case subjects, 1,780 controls), whereas analyses of attendance were restricted to women invited to screening (105 case subjects, 525 age-matched controls). Odds ratios (OR) were estimated with conditional logistic regression. We used and compared two methods to correct for self-selection bias. Screening invitation resulted in a breast cancer mortality reduction of 17% (95% confidence interval [CI]: -36%, +6%), similar to trial results. Different exposure definitions and self-selection adjustments influenced the observed breast cancer mortality reduction. Depending on the method, "ever screened" appeared to be associated with a small reduction (OR: 0.86, 95% CI: 0.40, 1.89) or no reduction (OR: 1.02, 95% CI: 0.48, 2.14) using the two methods of correction. Recent attendance resulted in an adjusted mortality reduction of 36% (95% CI: -69%, +31%) or 45% (95% CI: -71%, +5%). Observational studies, and particularly case-control studies, are an important monitoring tool for breast cancer screening programs. The focus should be on diminishing bias in observational studies and gaining a better understanding of the influence of study design on estimates of mortality reduction.

  8. Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy

    Directory of Open Access Journals (Sweden)

    Marco Lucci

    2013-10-01

    Full Text Available Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant.Methods: data on 804 pregnant women out of 2 158 (37.3% referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study.Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9% were identified during pregnancy and 607 (65.1% were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01 had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established.Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered.

  9. 'A low risk is still a risk': exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention

    NARCIS (Netherlands)

    Henneman, L.; Timmermans, D. R.; Bouwman, C. M.; Cornel, M. C.; Meijers-Heijboer, H.

    2011-01-01

    Population breast cancer screening programs by mammography are offered to women based on age. It has been suggested that a screening program based on genetic risk profile could be more effective by targeting interventions at those at higher genetic risk. This study explores women's attitudes towards

  10. Reflex syncope, anxiety level, and family history of cardiovascular disease in young women: case-control study.

    Science.gov (United States)

    Zyśko, D; Szewczuk-Bogusławska, M; Kaczmarek, M; Agrawal, A K; Rudnicki, J; Gajek, J; Melander, O; Sutton, R; Fedorowski, A

    2015-02-01

    Anxiety is an emotion, which stimulates sympathetic nervous outflow potentially facilitating vasovagal reflex syncope (VVS) but reports on anxiety levels in patients with VVS are sparse. We studied anxiety levels in young women (21-40 years) referred for unexplained transient loss of consciousness (TLOC), and age-matched female controls with or without past history of TLOC (≈probable VVS). Referred patients underwent head-up tilt (HUT) according to current ESC Guidelines. State and Trait Anxiety Inventory questionnaire evaluated anxiety levels plus a questionnaire explored risk factors for cardiovascular disease (CVD). Sixty-five of 91 women were diagnosed with VVS on HUT. Among 549 controls, 223 (40.6%) reported at least one episode of TLOC. State-anxiety level in patients with VVS undergoing HUT (42.4 ± 9.3) was higher compared with both controls with (38.3 ± 10.2; P < 0.01) and without past TLOC history (35.9 ± 9.8; P < 0.001). Trait anxiety in patients with VVS (42.7 ± 8.4), and controls with TLOC history (42.4 ± 8.4) was higher compared with controls without TLOC history (39.7 ± 8.5; P < 0.01). In the logistic regression using controls without TLOC as reference, both VVS diagnosis and past history of TLOC were associated with family history of CVD [odds ratio (OR) 2.4, 95% confidence interval (CI), 1.3-4.4; P = 0.007, and 2.3, 1.4-3.6; P = 0.001, respectively], and this association was independent of anxiety level. Trait anxiety and family history of CVD are increased in both young women with VVS and controls with history of TLOC. However, the height of anxiety level does not explain CVD heredity and other mechanisms may link syncope with CVD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.

  11. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia.

    Science.gov (United States)

    Spracklen, Cassandra N; Saftlas, Audrey F; Triche, Elizabeth W; Bjonnes, Andrew; Keating, Brendan; Saxena, Richa; Breheny, Patrick J; Dewan, Andrew T; Robinson, Jennifer G; Hoh, Josephine; Ryckman, Kelli K

    2015-07-01

    Large epidemiologic studies support the role of dyslipidemia in preeclampsia; however, the etiology of preeclampsia or whether dyslipidemia plays a causal role remains unclear. We examined the association between the genetic predisposition to dyslipidemia and risk of preeclampsia using validated genetic markers of dyslipidemia. Preeclampsia cases (n = 164) and normotensive controls (n = 110) were selected from live birth certificates to nulliparous Iowa women during the period August 2002 to May 2005. Disease status was verified by medical chart review. Genetic predisposition to dyslipidemia was estimated by 4 genetic risk scores (GRS) (total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglycerides) on the basis of established loci for blood lipids. Logistic regression analyses were used to evaluate the relationships between each of the 4 genotype scores and preeclampsia. Replication analyses were performed in an independent, US population of preeclampsia cases (n = 516) and controls (n = 1,097) of European ancestry. The GRS related to higher levels of TC, LDL-C, and triglycerides demonstrated no association with the risk of preeclampsia in either the Iowa or replication population. The GRS related to lower HDL-C was marginally associated with an increased risk for preeclampsia (odds ratio (OR) = 1.03, 95% confidence interval (CI) = 0.99-1.07; P = 0.10). In the independent replication population, the association with the HDL-C GRS was also marginally significant (OR = 1.03, 95% CI: 1.00-1.06; P = 0.04). Our data suggest a potential effect between the genetic predisposition to dyslipidemic levels of HDL-C and an increased risk of preeclampsia, and, as such, suggest that dyslipidemia may be a component along the causal pathway to preeclampsia. © American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  12. Parameter Control of Genetic Algorithms by Learning and Simulation of Bayesian Networks——A Case Study for the Optimal Ordering of Tables

    Institute of Scientific and Technical Information of China (English)

    Concha Bielza; Juan A.Fernández del Pozo; Pedro Larra(n)aga

    2013-01-01

    Parameter setting for evolutionary algorithms is still an important issue in evolutionary computation.There are two main approaches to parameter setting:parameter tuning and parameter control.In this paper,we introduce self-adaptive parameter control of a genetic algorithm based on Bayesian network learning and simulation.The nodes of this Bayesian network are genetic algorithm parameters to be controlled.Its structure captures probabilistic conditional (in)dependence relationships between the parameters.They are learned from the best individuals,i.e.,the best configurations of the genetic algorithm.Individuals are evaluated by running the genetic algorithm for the respective parameter configuration.Since all these runs are time-consuming tasks,each genetic algorithm uses a small-sized population and is stopped before convergence.In this way promising individuals should not be lost.Experiments with an optimal search problem for simultaneous row and column orderings yield the same optima as state-of-the-art methods but with a sharp reduction in computational time.Moreover,our approach can cope with as yet unsolved high-dimensional problems.

  13. Individual socioeconomic status and breast cancer diagnostic stages: a French case-control study.

    Science.gov (United States)

    Orsini, Mattea; Trétarre, Brigitte; Daurès, Jean-Pierre; Bessaoud, Faiza

    2016-06-01

    Health inequalities have increased over the last 30 years. Our goal was to investigate the relationship between low individual socioeconomic status and poor breast cancer prognosis. Our hypothesis was: low socioeconomic status patients have a higher risk of being diagnosed with late stage breast cancer than high socioeconomic status ones due to delayed diagnosis. We conducted a matched case-control study on 619 women with breast cancer, living in the Hérault, a French administrative area. Both Cases and Controls were recruited among invasive cases diagnosed in 2011 and 2012 and treated in Hérault care centers. Cases were defined as patients with advanced stages. Controls were composed of early stage patients. Individual socioeconomic status was assessed using a validated individual score adapted to the French population and health care system. We observed that low socioeconomic status patients have a 2-fold risk of having late stage breast cancer regardless of cancer characteristics and detection mode (screening vs. clinical signs). One reason explaining those results could be that low socioeconomic status patients have less regular follow-up which can lead to later and poorer diagnosis. Follow-up is improved for women with a better awareness of breast cancer. Health policy makers could reduce health inequalities by reducing the delay in breast cancer diagnosis for low socioeconomic status women. © The Author 2016. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

  14. Breast cancer screening effect across breast density strata: A case-control study.

    Science.gov (United States)

    van der Waal, Daniëlle; Ripping, Theodora M; Verbeek, André L M; Broeders, Mireille J M

    2017-01-01

    Breast cancer screening is known to reduce breast cancer mortality. A high breast density may affect this reduction. We assessed the effect of screening on breast cancer mortality in women with dense and fatty breasts separately. Analyses were performed within the Nijmegen (Dutch) screening programme (1975-2008), which invites women (aged 50-74 years) biennially. Performance measures were determined. Furthermore, a case-control study was performed for women having dense and women having fatty breasts. Breast density was assessed visually with a dichotomized Wolfe scale. Breast density data were available for cases. The prevalence of dense breasts among controls was estimated with age-specific rates from the general population. Sensitivity analyses were performed on these estimates. Screening performance was better in the fatty than in the dense group (sensitivity 75.7% vs 57.8%). The mortality reduction appeared to be smaller for women with dense breasts, with an odds ratio (OR) of 0.87 (95% CI 0.52-1.45) in the dense and 0.59 (95% CI 0.44-0.79) in the fatty group. We can conclude that high density results in lower screening performance and appears to be associated with a smaller mortality reduction. Breast density is thus a likely candidate for risk-stratified screening. More research is needed on the association between density and screening harms. © 2016 UICC.

  15. A population-based case-control study of the safety of oral anti-tuberculosis drug treatment during pregnancy

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Olsen, J.

    2001-01-01

    OUTCOME MEASURES: Congenital abnormalities in newborn infants and fetuses diagnosed prenatally during the second and third trimesters, and postnatally from birth to the age of one year. RESULTS: Of 38,151 controls, 29 (0.08%) were exposed to anti-tuberculosis drug treatment during pregnancy......OBJECTIVE: To study the human teratogenic potential of isoniazid and other anti-tuberculosis drug treatment during pregnancy. DESIGN AND SETTING: Cases from a large population-based dataset at the Hungarian Case-Control Surveillance of Congenital Abnormalities, and controls from the National Birth...... Registry, between 1980 and 1996. Information on all oral anti-tuberculosis drug treatments during pregnancy was medically recorded. STUDY PARTICIPANTS: Women who had newborns or fetuses with congenital abnormalities (case group), and women who had babies with no congenital abnormality (control group). MAIN...

  16. Psychosocial influences on prisoner suicide: a case-control study of near-lethal self-harm in women prisoners.

    Science.gov (United States)

    Marzano, Lisa; Hawton, Keith; Rivlin, Adrienne; Fazel, Seena

    2011-03-01

    We examined the psychosocial influences on female prisoner suicide by carrying out a study of near-lethal self-harm. We interviewed 60 women prisoners who had recently engaged in near-lethal self-harm (cases) and 60 others who had never carried out near-lethal acts in prison (controls) from all closed female prison establishments in England and Wales, using mixed quantitative and qualitative methods. We gathered information on socio-demographic and criminological variables, life events and childhood trauma, exposure to suicidal behaviour, contributory and precipitating factors for near-lethal self-harm, social support and psychological characteristics. While socio-demographic factors were only modestly associated with near-lethal self-harm, being on remand, in single cell accommodation, and reporting negative experiences of imprisonment were strong correlates. Recent life events and past trauma, including different forms of childhood abuse, were also significantly associated with near-lethal self-harm, as were a family history of suicide and high scores on measures of depression, aggression, impulsivity and hostility, and low levels of self-esteem and social support. Our findings underline the importance of both individual and prison-related factors for suicide in custody, and hence the need for a comprehensive approach to suicide prevention in women's prisons. Given the multiple needs of female prisoners at-risk of self-harm and suicide, complex psychosocial interventions are likely to be required, including interventions for abused and bereaved women, and initiatives to improve staff-prisoner relationships and reduce bullying. The findings of this research may provide insights into factors leading to suicidal behaviour in other forensic and institutional settings, such as detention centres and psychiatric hospitals, and may assist in developing suicide prevention policies for prisoners and other at-risk populations. Copyright © 2011 Elsevier Ltd. All rights

  17. Lifestyle and Genetic Predictors of Stiffness Index in Community-dwelling Elderly Korean Men and Women

    Directory of Open Access Journals (Sweden)

    Kyung-Ae Park, PhD

    2015-09-01

    Conclusions: Low SI was common in both elderly men and women. We found gender differences in factors linked to low SI. In multiple regression analysis, nutritional status and physical activity were more important factors in men, whereas alcohol consumption, educational level, and genetic polymorphism were significant factors predicting low SI in women. Gender-specific modifiable risk factors associated with low SI should be considered when developing osteoporosis prevention programs for the elderly.

  18. Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

    Directory of Open Access Journals (Sweden)

    Karin A W Wadt

    Full Text Available Both environmental and host factors influence risk of cutaneous melanoma (CM, and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in CDK4 and BAP1, while MC1R variants were common, occurring at more than twice the frequency compared to Danish controls. The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.

  19. How genetics works? An illustrative case report

    Directory of Open Access Journals (Sweden)

    Vikas Khetan

    2016-01-01

    Full Text Available In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally. The left eye showed mild macular temporal dragging of the vessels and 360° of peripheral laser scars. In addition he also had some characteristic systemic features such as developmental delay, obesity, dysmorphic facies and tapered fingers. Using this case as an example, we present a systematic, logical approach to a patient with a possible genetic disorder. The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein.

  20. Dietary calcium intake and the risk of colorectal cancer: a case control study.

    Science.gov (United States)

    Han, Changwoo; Shin, Aesun; Lee, Jeonghee; Lee, Jeeyoo; Park, Ji Won; Oh, Jae Hwan; Kim, Jeongseon

    2015-12-16

    High intake of dietary calcium has been thought to be a protective factor against colorectal cancer. To explore the dose-response relationship in the associations between dietary calcium intake and colorectal cancer risk by cancer location, we conducted a case-control study among Korean population, whose dietary calcium intake levels are relatively low. The colorectal cancer cases and controls were recruited from the National Cancer Center in Korea between August 2010 and August 2013. Information on dietary calcium intake was assessed using a semi-quantitative food frequency questionnaire and locations of the colorectal cancers were classified as proximal colon cancer, distal colon cancer, and rectal cancer. Binary and polytomous logistic regression models were used to evaluate the association between dietary calcium intake and risk of colorectal cancer. A total of 922 colorectal cancer cases and 2766 controls were included in the final analysis. Compared with the lowest calcium intake quartile, the highest quartile group showed a significantly reduced risk of colorectal cancer in both men and women. (Odds ratio (OR): 0.16, 95% confidence interval (CI): 0.11-0.24 for men; OR: 0.16, 95% CI: 0.09-0.29 for women). Among the highest calcium intake groups, decrease in cancer risk was observed across all sub-sites of colorectum in both men and women. In conclusion, calcium consumption was inversely related to colorectal cancer risk in Korean population where national average calcium intake level is relatively lower than Western countries. A decreased risk of colorectal cancer by calcium intake was observed in all sub-sites in men and women.

  1. PREDICTIVE CONTROL OF A BATCH POLYMERIZATION SYSTEM USING A FEEDFORWARD NEURAL NETWORK WITH ONLINE ADAPTATION BY GENETIC ALGORITHM

    Directory of Open Access Journals (Sweden)

    A. Cancelier

    Full Text Available Abstract This study used a predictive controller based on an empirical nonlinear model comprising a three-layer feedforward neural network for temperature control of the suspension polymerization process. In addition to the offline training technique, an algorithm was also analyzed for online adaptation of its parameters. For the offline training, the network was statically trained and the genetic algorithm technique was used in combination with the least squares method. For online training, the network was trained on a recurring basis and only the technique of genetic algorithms was used. In this case, only the weights and bias of the output layer neuron were modified, starting from the parameters obtained from the offline training. From the experimental results obtained in a pilot plant, a good performance was observed for the proposed control system, with superior performance for the control algorithm with online adaptation of the model, particularly with respect to the presence of off-set for the case of the fixed parameters model.

  2. The association of dietary pattern and breast cancer in Jiangsu, China: A population-based case-control study

    NARCIS (Netherlands)

    Lu, S.; Qian, Y.; Huang, X.; Yu, H.; Yang, J.; Han, R.; Su, J.; Du, W.; Zhou, J; Dong, M.; Yu, X.; Duijnhoven, F.; Kampman, E.; Wu, M.

    2017-01-01

    This study aims to examine the association of breast cancer with dietary patterns among Chinese women. A population-based case-control study was conducted in Jiangsu, China. Newly diagnosed primary breast cancer patients were recruited as cases (n = 818). Controls (n = 935), selected from the

  3. Robust PD Sway Control of a Lifted Load for a Crane Using a Genetic Algorithm

    Science.gov (United States)

    Kawada, Kazuo; Sogo, Hiroyuki; Yamamoto, Toru; Mada, Yasuhiro

    PID control schemes still continue to be widely used for most industrial control systems. This is mainly because PID controllers have simple control structures, and are simple to maintain and tune. However, it is difficult to find a set of suitable control parameters in the case of time-varying and/or nonlinear systems. For such a problem, the robust controller has been proposed.Although it is important to choose the suitable nominal model in designing the robust controller, it is not usually easy.In this paper, a new robust PD controller design scheme is proposed, which utilizes a genetic algorithm.

  4. Genetic Algorithm Optimizes Q-LAW Control Parameters

    Science.gov (United States)

    Lee, Seungwon; von Allmen, Paul; Petropoulos, Anastassios; Terrile, Richard

    2008-01-01

    A document discusses a multi-objective, genetic algorithm designed to optimize Lyapunov feedback control law (Q-law) parameters in order to efficiently find Pareto-optimal solutions for low-thrust trajectories for electronic propulsion systems. These would be propellant-optimal solutions for a given flight time, or flight time optimal solutions for a given propellant requirement. The approximate solutions are used as good initial solutions for high-fidelity optimization tools. When the good initial solutions are used, the high-fidelity optimization tools quickly converge to a locally optimal solution near the initial solution. Q-law control parameters are represented as real-valued genes in the genetic algorithm. The performances of the Q-law control parameters are evaluated in the multi-objective space (flight time vs. propellant mass) and sorted by the non-dominated sorting method that assigns a better fitness value to the solutions that are dominated by a fewer number of other solutions. With the ranking result, the genetic algorithm encourages the solutions with higher fitness values to participate in the reproduction process, improving the solutions in the evolution process. The population of solutions converges to the Pareto front that is permitted within the Q-law control parameter space.

  5. Eye and rare genetic diseases: Case series and literature review ...

    African Journals Online (AJOL)

    Genetic diseases are generally characterised by a multi visceral pathogenesis. Although orphan, these diseases interest many disciplines due to their clinical expression. Eye is sometimes part of the clinical polymorphism of some rare genetic diseases. Ocular signs are in some cases leading to the diagnosis of these ...

  6. Dyslipidaemia in woman with polycystic ovarian syndrome: a case control study in tertiary care hospital of Karachi.

    Science.gov (United States)

    Hussain, Amna; Alam, Junaid Mahmood

    2014-09-01

    To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight. SPSS 14 was used for statistical analysis. The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p polycystic ovary syndrome, obesity and triglyceride levels (p Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia.

  7. Associations of depression and depressive symptoms with preeclampsia: results from a Peruvian case-control study

    Directory of Open Access Journals (Sweden)

    Garcia Pedro

    2007-09-01

    Full Text Available Abstract Background Preeclampsia involves endothelial dysfunction, platelet dysfunction/activation and sympathetic over-activity similar to cardiovascular disorders (CVD. Depression, an independent risk factor for progression of CVD, was found to be associated with an increased risk of preeclampsia among Finnish women. We examined the relation between depression/depressive symptoms and preeclampsia risk among Peruvian women. Methods The study included 339 preeclamptic cases and 337 normotensive controls. Depression and depressive symptoms during pregnancy were assessed using the Patient Health Questionnaire (PHQ-9. Odds ratios (OR and 95% confidence intervals (CI were estimated from logistic regression models. Results The prevalence of moderate depression was 11.5% among cases and 5.3% among controls. The corresponding figures for moderate-severe depression were 3.5% for cases and 2.1% for controls. Compared with non-depressed women, those with moderate depression had a 2.3-fold increased risk of preeclampsia (95% CI: 1.2–4.4, while moderate-severe depression was associated with a 3.2-fold (95% CI: 1.1–9.6 increased risk of preeclampsia. Associations of each of the 9-items of the PHQ-9 depression screening module with preeclampsia risk were also observed. Conclusion Our findings are consistent with the only other published report on this topic. Collectively, available data support recent calls for expanded efforts to study and address depression among pregnant women.

  8. African ancestry is associated with facial melasma in women: a cross-sectional study.

    Science.gov (United States)

    D'Elia, Maria Paula Barbieri; Brandão, Marcela Calixto; de Andrade Ramos, Bruna Ribeiro; da Silva, Márcia Guimarães; Miot, Luciane Donida Bartoli; Dos Santos, Sidney Emanuel Batista; Miot, Hélio Amante

    2017-02-17

    Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Here, we evaluated the association between genetic ancestry and facial melasma. A cross-sectional study involving women with melasma and an age-matched control group from outpatients at FMB-Unesp, Botucatu-SP, Brazil was performed. DNA was extracted from oral mucosa swabs and ancestry determined by studying 61 INDELs. The genetic ancestry components were adjusted by other known risk factors by multiple logistic regression. We evaluated 119 women with facial melasma and 119 controls. Mean age was 39 ± 9 years. Mean age at beginning of disease was 27 ± 8 years. Pregnancy (40%), sun exposure (37%), and hormonal oral contraception (22%) were the most frequently reported melasma triggers. All subjects presented admixed ancestry, African and European genetic contributions were significantly different between cases and controls (respectively 10% vs 6%; 77% vs 82%; p ancestry (OR = 1.04; 95% CI 1.01 to 1.07), first generation family history (OR = 3.04; 95% CI 1.56 to 5.94), low education level (OR = 4.04; 95% CI 1.56 to 5.94), and use of antidepressants by individuals with affected family members (OR = 6.15; 95% CI 1.13 to 33.37) were associated with melasma, independently of other known risk factors. Facial melasma was independently associated with African ancestry in a highly admixed population.

  9. Differential impact of statin on new-onset diabetes in different age groups: a population-based case-control study in women from an asian country.

    Directory of Open Access Journals (Sweden)

    Chih-Wei Chen

    Full Text Available BACKGROUND: Statins reduce cardiovascular risks but increase the risk of new-onset diabetes (NOD. The aim of this study is to determine what effect, if any, statins have on the risk of NOD events in a population-based case-control study. An evaluation of the relationship between age and statin-exposure on NOD risks was further examined in a female Asian population. METHOD: In a nationwide case-controlled study, the authors assessed 1065 female NOD patients and 10650 controls with matching ages, genders and physician visit dates. The impact of statin-exposure on NOD was examined through multiple logistic regression models. Subgroup analysis for exploring the risk of NOD and statin-exposure in different age groups was performed. RESULTS: Statin-exposure was statistically significantly associated with increased new-onset diabetes risks using multivariate analysis. Interaction effect between age and statin-exposure on NOD risk was noted. For atorvastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted odds ratio [OR], 8.0; 95% confidence interval [CI], 2.57-24.90. For rosuvastatin, the risk of cDDDs>60 was highest among the 40-54 year-olds (adjusted OR, 14.8; 95% CI, 2.27-96.15. For simvastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted OR, 15.8; 95% CI, 5.77-43.26. For pravastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted OR, 14.0; 95% CI, 1.56-125.18. CONCLUSIONS: This population-based study found that statin use is associated with an increased risk of NOD in women. The risk of statin-related NOD was more evident for women aged 40-64 years compared to women aged 65 or more, and was cumulative-dose dependent. The use of statins should always be determined by weighing the clinical benefits and potential risks for NOD, and the patients should be continuously monitored for adverse effects.

  10. Genetic architecture of sex determination in fish: Applications to sex ratio control in aquaculture

    Directory of Open Access Journals (Sweden)

    Paulino eMartínez

    2014-09-01

    Full Text Available Controlling the sex ratio is essential in finfish farming. A balanced sex ratio is usually good for broodstock management, since it enables to develop appropriate breeding schemes. However, in some species the production of monosex populations is desirable because the existence of sexual dimorphism, primarily in growth or first time of sexual maturation, but also in color or shape, can render one sex more valuable. The knowledge of the genetic architecture of sex determination (SD is convenient for controlling sex ratio and for the implementation of breeding programs. Unlike mammals and birds, which show highly conserved master genes that control a conserved genetic network responsible for gonad differentiation (GD, a huge diversity of SD mechanisms has been reported in fish. Despite theory predictions, more than one gene is in many cases involved in fish SD and genetic differences have been observed in the GD network. Environmental factors also play a relevant role and epigenetic mechanisms are becoming increasingly recognized for the establishment and maintenance of the GD pathways. Although major genetic factors are frequently involved in fish SD, these observations strongly suggest that SD in this group resembles a complex trait. Accordingly, the application of quantitative genetics combined with genomic tools is desirable to address its study and in fact, when applied, it has frequently demonstrated a multigene trait interacting with environmental factors in model and cultured fish species. This scenario has notable implications for aquaculture and, depending upon the species, from chromosome manipulation or environmental control techniques up to classical selection or marker assisted selection programs, are being applied. In this review, we selected four relevant species or fish groups to illustrate this diversity and hence the technologies that can be used by the industry for the control of sex ratio: turbot and European sea bass, two

  11. Therapeutic radiation and hyperparathyroidism. A case-control study in Rochester, Minn

    International Nuclear Information System (INIS)

    Beard, C.M.; Heath, H. III; O'Fallon, W.M.; Anderson, J.A.; Earle, J.D.; Melton, L.J. III

    1989-01-01

    A case-control study was conducted among residents of Rochester, Minn, to assess the influence of prior therapeutic radiation on the risk of primary hyperparathyroidism. Fifty-one cases of surgically proven primary hyperparathyroidism diagnosed from 1975 through 1983 were each matched by age and gender to two control subjects, with radiation exposure documented through preexisting medical records. The overall odds ratio for any prior therapeutic radiation therapy was 1.9 (95% confidence interval, 0.9 to 4.4) and it was 2.3 (95% confidence interval, 0.9 to 5.7) when limited to those with prior head and neck radiation. Among women, the figures were 2.9 (95% confidence interval, 1.1 to 7.5) for any prior therapeutic radiation and 3.4 (95% confidence interval, 1.2 to 10.2) for head and neck exposure. This study confirms the association between primary hyperparathyroidism and prior therapeutic radiation exposure, at least for women in this population

  12. Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies

    NARCIS (Netherlands)

    Vaithilingam, R.D.; Saffi, S.H.; Baharuddin, N.A.; Ng, C.C.; Cheong, S.C.; Bartold, P.M.; Schaefer, A.S.; Loos, B.G.

    2014-01-01

    Studies to elucidate the role of genetics as a risk factor for periodontal disease have gone through various phases. In the majority of cases, the initial ‘hypothesis-dependent’ candidate-gene polymorphism studies did not report valid genetic risk loci. Following a large-scale replication study,

  13. Analysis of new lactotransferrin gene variants in a case-control study related to periodontal disease in dog.

    Science.gov (United States)

    Morinha, Francisco; Albuquerque, Carlos; Requicha, João; Dias, Isabel; Leitão, José; Gut, Ivo; Guedes-Pinto, Henrique; Viegas, Carlos; Bastos, Estela

    2012-04-01

    The molecular and genetic research has contributed to a better understanding of the periodontal disease (PD) in humans and has shown that many genes play a role in the predisposition and progression of this complex disease. Variations in human lactotransferrin (LTF) gene appear to affect anti-microbial functions of this molecule, influencing the PD susceptibility. PD is also a major health problem in small animal practice, being the most common inflammatory disease found in dogs. Nevertheless, the research in genetic predisposition to PD is an unexplored subject in this species. This work aims to contribute to the characterization of the genetic basis of canine PD. In order to identify genetic variations and verify its association with PD, was performed a molecular analysis of LTF gene in a case-control approach, including 40 dogs in the PD cases group and 50 dogs in the control group. In this study were detected and characterized eight new single nucleotide variations in the dog LTF gene. Genotype and allele frequencies of these variations showed no statistically significant differences between the control and PD cases groups. Our data do not give evidence for the contribution of these LTF variations to the genetic background of canine PD. Nevertheless, the sequence variant L/15_g.411C > T leads to an aminoacid change (Proline to Leucine) and was predicted to be possibly damaging to the LTF protein. Further investigations would be of extreme value to clarify the biological importance of these new findings.

  14. Physical Activity, Exercise, And Nutrition Interventions For Weight Control In African American Women

    Directory of Open Access Journals (Sweden)

    Matthew Asare

    2010-01-01

    Full Text Available The purpose of this paper was to review the physical activity, exercise, and nutritionrelated weight control interventions done with African American women that were publishedbetween 2006 and 2010 and suggest ways of enhancing these interventions. A total of 13 studiesmet the inclusion criteria. The review found significant results with regard to impact ofintervention. Twelve of those studies revealed significant increase in physical activity and weightreduction behavior. In terms of use of theory in designing the interventions only five interventionsused a theory. In three of those cases social cognitive theory was used. Appropriate sample sizewas found to be the major strength of most of the interventions. Six interventions usedrandomized controlled design. Recommendations for enhancing the effectiveness of physicalactivity interventions in African American women are presented.

  15. Social support networks and depression of women suffering from early-stage breast cancer: a case control study.

    Science.gov (United States)

    Gagliardi, Cristina; Vespa, Anna; Papa, Roberta; Mariotti, Carlo; Cascinu, Stefano; Rossini, Simonetta

    2009-01-01

    The aim of this study was to investigate the areas of depression, anxiety, and social support using the structural model of the social network. By comparing the networks of two samples of breast cancer sufferers and healthy control participants, it was possible to identify differences in their relationships, in the shape of the networks themselves, and in the levels of depression and anxiety. Women with breast cancer described smaller and denser networks, including mainly kins whereas the healthy women included more friends, coworkers, and leisure companions. The levels of anxiety and depression were higher in women with breast cancer. Social network and social support measure correlated differently with depression and anxiety in the two groups.

  16. Assessment of genetic risk of exposure resulted from X-ray examination of women of the reproductive age

    International Nuclear Information System (INIS)

    Strel'nikova, N.K.

    1989-01-01

    On the basis of the available data an evaluation of genetic radiation risk during roentgenologic examination of women of the reproductive age is presented. It is demonstrated that the degree of genetic risk depends on woman's age at the moment of the roentgenologic examination and the amount of the gonadal dose. Identification of the high-risk exposed populations has been substantiated

  17. Estrogen and progesterone receptor levels in nonneoplastic breast epithelium of breast cancer cases versus benign breast biopsy controls

    International Nuclear Information System (INIS)

    Woolcott, Christy G; SenGupta, Sandip K; Hanna, Wedad M; Aronson, Kristan J

    2008-01-01

    Previous studies and biological mechanisms of carcinogenesis suggest that the steroid receptor content of benign breast epithelium may be related to breast cancer risk. The objective in this study was to compare the levels of estrogen receptor-α (ER) and progesterone receptor (PR) in nonneoplastic breast epithelium between breast cancer cases and biopsy controls. Between 1995 and 1997 at two sites (Women's College Hospital in Toronto and Kingston General Hospital), 667 women who were scheduled for diagnostic excisional breast biopsies completed a questionnaire providing personal information and agreed to allow analysis of routinely resected tissue. Histological slides with nonneoplastic epithelium were available for 101 cancer cases and 200 biopsy controls in Toronto and for 105 cancer cases and 119 controls in Kingston. Nonneoplastic epithelium was examined with immunohistochemical assays to determine the percent of epithelial cells staining for ER and PR. Unconditional logistic regression was used to calculate odds ratios (OR) stratified by study site. The ER content of nonneoplastic tissue was higher in cases than biopsy controls in unadjusted analyses; after adjustment for age, however, a weak association remained in only one of the study sites. After adjustment for age, the PR content of nonneoplastic tissue was slightly lower in breast cancer cases than controls in one study site. Furthermore, this inverse association was confined to women with PR negative breast cancer in comparison to the controls. No interaction between ER and PR content of nonneoplastic tissue was observed in relation to the odds of having breast cancer. The results of this study are consistent with only a slight indication of increased ER levels in nonneoplastic tissue in breast cancer cases relative to controls. This study contributes to the understanding of breast cancer by examining both ER and PR in nonneoplastic tissue. Limitations remain, however, such as the necessity of

  18. Association between cervical screening and prevention of invasive cervical cancer in Ontario: a population-based case-control study.

    Science.gov (United States)

    Vicus, Danielle; Sutradhar, Rinku; Lu, Yan; Kupets, Rachel; Paszat, Lawrence

    2015-01-01

    The aim of this study was to estimate the effect of cervical screening in the prevention of invasive cervical cancer among age groups, using a population-based case-control study in the province of Ontario, Canada. Exposure was defined as cervical cytology history greater than 3 months before the diagnosis date of cervical cancer (index date). Cases were women who were diagnosed with cervical cancer between January 1, 1998, and December 31, 2008. Controls were women without a diagnosis of cervical cancer on, or before, December 31, 2008. Two controls were matched to each case on year of birth and income quintile, as of the index date. Conditional logistic regression was used to estimate the odds ratio for having been screened among those with cervical cancer. Cervical cancer screening performed between 3 and 36 months before the index date was protective against invasive cervical cancer in women aged 40 through 69 years. In women younger than 40 years, cervical cancer screening performed 3 to 36 months before the index date was not protective. Cervical screening is associated with a reduced risk for invasive cervical cancer among women older than 40 years. Cervical cancer resources should be focused on maximizing the risk reduction.

  19. The association of dietary pattern and breast cancer in Jiangsu, China: A population-based case-control study.

    Science.gov (United States)

    Lu, Shurong; Qian, Yun; Huang, Xingyu; Yu, Hao; Yang, Jie; Han, Renqiang; Su, Jian; Du, Wencong; Zhou, Jinyi; Dong, Meihua; Yu, Xiaojin; Duijnhoven, Fränzel J B van; Kampman, Ellen; Wu, Ming

    2017-01-01

    This study aims to examine the association of breast cancer with dietary patterns among Chinese women. A population-based case-control study was conducted in Jiangsu, China. Newly diagnosed primary breast cancer patients were recruited as cases (n = 818). Controls (n = 935), selected from the general population, were frequency matched to cases. A validated food frequency questionnaire was used to assess dietary intake. Dietary patterns were identified by factor analysis and multivariable odds ratios (OR) and 95% confidence intervals (CI) were estimated. Four dietary patterns were identified: salty, vegetarian, sweet and traditional Chinese. The traditional Chinese pattern was found to be robustly associated with a lower risk of breast cancer among both pre- and post-menopausal women (4th vs. 1st quartile: OR for pre- and post-menopausal women was 0.47 and 0.68, respectively). Women with high factor scores of the sweet pattern also showed a decreased risk of breast cancer (4th vs. 1st quartile: OR for pre- and post-menopausal women was 0.47 and 0.68, respectively). No marked association was observed between a vegetarian pattern or a salty pattern and breast cancer. These findings indicate that dietary patterns of the traditional Chinese and the sweet may favorably associate with the risk of breast cancer among Chinese women.

  20. Capacity Building for Women in African Countries: A Case Study of ...

    African Journals Online (AJOL)

    Capacity Building for Women in African Countries: A Case Study of Sierra Leone. ... In the case of women this has further inured from histories of discrimination most of which stems from socio-cultural factors and forces. Ongoing ... The paper is informed by conceptual analysis of existing literature and official documentation.

  1. Circulating folate levels and colorectal adenoma: a case-control study and a meta-analysis.

    Science.gov (United States)

    Park, Yeong Mi; Youn, Jiyoung; Cho, Chang Ho; Kim, Sung Hi; Lee, Jung Eun

    2017-10-01

    The relationship between folate and colorectal neoplasia remains controversial. We examined the association between serum folate concentrations and colorectal adenomas in a case-control study of Korean adults and conducted a meta-analysis. Our case-control study included 113 pairs of case and control who underwent colonoscopy and provided blood samples. We used multivariable conditional logistic regression models to obtain the odds ratios and 95% confidence interval (CIs). For meta-analysis, we identified the relevant studies by searching the PubMed database up to February 2017, included our case-control study and combined the study-specific relative risks (RRs) using a random-effects model. In this case-control study, we included 58 men and 55 women with colorectal adenomas and sex and fasting status matched the controls. We did not find any significant association between the serum folate levels and colorectal adenomas in either men or women. For meta-analysis, a total of eleven studies were included in our analysis and classified into two groups; polyp clearance group (PC) for the studies that included participants who underwent endoscopies and had their polyps removed at baseline; and no polyp clearance group (NPC) for the studies that included participants whose histories of endoscopies were unknown or who underwent their first endoscopies. Four PC (1,311 cases and 1,672 non-cases) and eight NPC studies (3,501 cases and 11,347 non-cases) were included. The combined RRs (95% CIs) comparing the bottom with the top categories of circulating folate levels were 1.07 (0.97-1.18) for the NPC group but 1.45 (1.16-1.74) for the PC group. Low circulating folate levels were associated with new adenoma formation.

  2. Acute maternal infection and risk of pre-eclampsia: a population-based case-control study.

    Directory of Open Access Journals (Sweden)

    Caroline Minassian

    Full Text Available Infection in pregnancy may be involved in the aetiology of pre-eclampsia. However, a clear association between acute maternal infection and pre-eclampsia has not been established. We assessed whether acute urinary tract infection, respiratory tract infection, and antibiotic drug prescriptions in pregnancy (a likely proxy for maternal infection are associated with an increased risk of pre-eclampsia.We used a matched nested case-control design and data from the UK General Practice Research Database to examine the association between maternal infection and pre-eclampsia. Primiparous women aged at least 13 years and registered with a participating practice between January 1987 and October 2007 were eligible for inclusion. We selected all cases of pre-eclampsia and a random sample of primiparous women without pre-eclampsia (controls. Cases (n=1533 were individually matched with up to ten controls (n=14236 on practice and year of delivery. We calculated odds ratios and 95% confidence intervals for pre-eclampsia comparing women exposed and unexposed to infection using multivariable conditional logistic regression. After adjusting for maternal age, pre-gestational hypertension, diabetes, renal disease and multifetal gestation, the odds of pre-eclampsia were increased in women prescribed antibiotic drugs (adjusted odds ratio 1.28;1.14-1.44 and in women with urinary tract infection (adjusted odds ratio 1.22;1.03-1.45. We found no association with maternal respiratory tract infection (adjusted odds ratio 0.91;0.72-1.16. Further adjustment for maternal smoking and pre-pregnancy body mass index made no difference to our findings.Women who acquire a urinary infection during pregnancy, but not those who have a respiratory infection, are at an increased risk of pre-eclampsia. Maternal antibiotic prescriptions are also associated with an increased risk. Further research is required to elucidate the underlying mechanism of this association and to determine

  3. Preimplantation development of embryos in women of advanced maternal age

    Directory of Open Access Journals (Sweden)

    O. V. Chaplia

    2014-04-01

    Full Text Available In order to reveal the influence of genetic component on the early embryo development, the retrospective study of morphokinetic characteristics of 717 embryos subjected to preimplantation genetic testing was conducted. Blastomere biopsy for FISH-based preimplantation genetic screening of 7 chromosomes was performed on the third day of culture, while embryo developmental potential and morphological features at the cleavage and blastulation stage were studied regarding maternal age particularly in the group of younger women and patients older than 36. Results of genetic testing revealed that euploid embryos rate gradually decreased with maternal age comprising 39.9% in young women group and 25.3% of specimen belonging to elder patients. At the cleavage stage, morphological characteristics of aneuploid and euploid embryos didn’t differ significantly regardless of the age of patients that could be accounted for the transcriptional silence of embryo genome till the third day of its development. However, in case of prolonged culture chromosomally balanced embryos rarely faced developmental arrest (in 7.9% and formed blastocysts half more frequently compared to aberrant embryos (respectively 75.6 versus 49.8%. Nevertheless, no substantial difference was found between blastocyst formation rate among embryos with similar genetic component regardless of the maternal age. Taking into consideration high rate of chromosomally unbalanced embryos specific to patients of advanced maternal age, the relative proportion of aneuplouid blastocysts was significantly higher in this group of embryos. Thus, without genetic screening there is a possibility of inaccurate selection of embryos for women of advanced reproductive age for transfer procedure even in case of prolonged culture. Consequently, increase of aneuploid embryos frequency associated with permanent preimplantation natural selection effectiveness along with the postimplantation natural selection failure

  4. Variation in Women's Preferences Regarding Male Facial Masculinity Is Better Explained by Genetic Differences Than by Previously Identified Context-Dependent Effects.

    Science.gov (United States)

    Zietsch, Brendan P; Lee, Anthony J; Sherlock, James M; Jern, Patrick

    2015-09-01

    Women's preferences for masculine versus feminine male faces are highly variable. According to a dominant theory in evolutionary psychology, this variability results from adaptations that optimize preferences by calibrating them to certain contextual factors, including women's self-perceived attractiveness, short- versus long-term relationship orientation, pathogen disgust sensitivity, and stage of the menstrual cycle. The theory does not account for the possible contribution of genetic variation on women's facial masculinity preference. Using a large sample (N = 2,160) of identical and nonidentical female Finnish twins and their siblings, we showed that the proportion of variation in women's preferences regarding male facial masculinity that was attributable to genetic variation (38%) dwarfed the variation due to the combined effect of contextual factors (< 1%). These findings cast doubt on the importance of these context-dependent effects and may suggest a need for refocusing in the field toward understanding the wide genetic variation in these preferences and how this variation relates to the evolution of sexual dimorphism in faces. © The Author(s) 2015.

  5. Lifestyle Factors and Gender-Specific Risk of Stroke in Adults with Diabetes Mellitus: A Case-Control Study.

    Science.gov (United States)

    Guo, Jian; Guan, Tianjia; Shen, Ying; Chao, Baohua; Li, Mei; Wang, Longde; Liu, Yuanli

    2018-07-01

    The lifestyle interventions are effective preventive measures for stroke in general population, and the stroke risk with lifestyle factors may be modified by gender, health conditions, etc. Therefore, we conducted a case-control study to investigate the gender-specific association between stroke risk and lifestyle factors in adults with diabetes based on the China National Stroke Screening Survey. Structured questionnaires were used to collect demographic data and information regarding lifestyle factors, history of chronic medical conditions, and family history of stroke and the status of treatment. The case group comprised individuals diagnosed with first-ever stroke in 2013-2014 screening period. Their corresponding controls (frequency-matched for age group and urban/rural ratio) were randomly selected from individuals with diabetes without stroke. There were 170 total stroke cases (500 controls) and 152 ischemic stroke cases (456 controls) among men with diabetes, and 183 total stroke cases (549 controls) and 168 ischemic stroke cases (504 controls) among women with diabetes. We found that physical inactivity was significantly associated with increased risk of total stroke (odds ratio [OR] = 1.50, 95% confidence interval [CI] 1.02-2.21) and of ischemic stroke (OR = 1.57, 95% CI 1.04-2.36) in women with diabetes. We found no significant association of smoking, overweight/obesity, or physical inactivity with risk of total or ischemic stroke in men with diabetes. Among the lifestyle factors of smoking, overweight/obesity, and physical inactivity, physical inactivity might increase the risk of total and ischemic stroke in women with diabetes. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  6. A cross-sectional case control study on genetic damage in individuals residing in the vicinity of a mobile phone base station.

    Science.gov (United States)

    Gandhi, Gursatej; Kaur, Gurpreet; Nisar, Uzma

    2015-01-01

    Mobile phone base stations facilitate good communication, but the continuously emitting radiations from these stations have raised health concerns. Hence in this study, genetic damage using the single cell gel electrophoresis (comet) assay was assessed in peripheral blood leukocytes of individuals residing in the vicinity of a mobile phone base station and comparing it to that in healthy controls. The power density in the area within 300 m from the base station exceeded the permissive limits and was significantly (p = 0.000) higher compared to the area from where control samples were collected. The study participants comprised 63 persons with residences near a mobile phone tower, and 28 healthy controls matched for gender, age, alcohol drinking and occupational sub-groups. Genetic damage parameters of DNA migration length, damage frequency (DF) and damage index were significantly (p = 0.000) elevated in the sample group compared to respective values in healthy controls. The female residents (n = 25) of the sample group had significantly (p = 0.004) elevated DF than the male residents (n = 38). The linear regression analysis further revealed daily mobile phone usage, location of residence and power density as significant predictors of genetic damage. The genetic damage evident in the participants of this study needs to be addressed against future disease-risk, which in addition to neurodegenerative disorders, may lead to cancer.

  7. Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study.

    Science.gov (United States)

    Haldar, Deepa; Agrawal, Nitin; Patel, Seema; Kambale, Pankaj Ramrao; Arora, Kanchan; Sharma, Aditi; Tripathi, Manish; Batra, Aruna; Kabi, Bhaskar C

    2018-03-01

    Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population. Serum vitamin D was measured by ELISA. Genotyping of VDBP single nucleotide polymorphisms (SNPs) rs7041 (HaeIII; G>T) and rs4588 (StyI; A>C) and CYP2R1 SNP rs2060793 (HinfI; A>G) was carried out by restriction fragment length polymorphism in 50 cases of PCOS that were compared with 50 age-matched healthy women. Vitamin D levels were found to be significantly lower in women with PCOS (p = 0.008) than in age-matched controls. There was no significant difference in genotype frequencies of all three polymorphisms (rs7041, rs4588, and rs2060793) between PCOS and control women. In women with a vitamin D deficiency (women increase the risk of PCOS.

  8. Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk

    DEFF Research Database (Denmark)

    Rudolph, Anja; Hein, Rebecca; Lindström, Sara

    2013-01-01

    Women using menopausal hormone therapy (MHT) are at increased risk of developing breast cancer (BC). To detect genetic modifiers of the association between current use of MHT and BC risk, we conducted a meta-analysis of four genome-wide case-only studies followed by replication in 11 case...

  9. Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: a case control study

    Directory of Open Access Journals (Sweden)

    Wallin Håkan

    2006-07-01

    Full Text Available Abstract Background The risk of sporadic colorectal cancer is mainly associated with lifestyle factors and may be modulated by several genetic factors of low penetrance. Genetic variants represented by single nucleotide polymorphisms in genes encoding key players in the adenoma carcinoma sequence may contribute to variation in susceptibility to colorectal cancer. In this study, we aimed to evaluate whether the recently identified haplotype encompassing genes of DNA repair and apoptosis, is associated with increased risk of colorectal adenomas and carcinomas. Methods We used a case-control study design (156 carcinomas, 981 adenomas and 399 controls to test the association between polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes ERCC1, ASE-1 and RAI, and risk of colorectal adenomas and carcinomas in a Norwegian cohort. Odds ratio (OR and 95% confidence interval (CI were estimated by binary logistic regression model adjusting for age and gender. Results The ASE-1 polymorphism was associated with an increased risk of adenomas, OR of 1.39 (95% CI 1.06–1.81, which upon stratification was apparent among women only, OR of 1.66 (95% CI 1.15–2.39. The RAI polymorphism showed a trend towards risk reduction for both adenomas (OR of 0.70, 95% CI 0.49–1.01 and carcinomas (OR of 0.49, 95% CI 0.21–1.13 among women, although not significant. Women who were homozygous carriers of the high risk haplotype had an increased risk of colorectal cancer, OR of 2.19 (95% CI 0.95–5.04 compared to all non-carriers although the estimate was not statistically significant. Conclusion We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women.

  10. The sheep blowfly genetic control program in Australia

    International Nuclear Information System (INIS)

    Foster, Geoffrey G.

    1989-01-01

    The blowfly Lucilia cuprina is the most important myiasis pet of sheep in Australia. Other species are associated with sheep myiasis, but L. cuprina is probably responsible for initiating more than 90% of infestations. Annual costs of production losses, prevention and treatment have been estimated at $149 millions in 1985. Prevention and treatment encompass both insecticidal applications to sheep and non-chemical management practices. In the absence of effective preventive measures, the sheep industry would be non-viable over much of Australia. Insecticide usage against L. cuprina has been marked by the appearance of widespread resistance to cyclodienes in 1956, the organophosphates in 1965, and carbamates in 1966. Resistance has not yet been reported against the triazine compounds introduced for blowfly control in 1981. The most effective non-chemical control measures are surgical (removal of skin from the breech in certain breeds of sheep, and tail-docking). They protect sheep by reducing favourable oviposition sites (dung and urine-stained wool). The spectre of insecticide resistance and the early success of the sterile insect technique (SIT) against screwworm fly in the U.S.A., led this Division to consider SIT and other autocidal methods in the 1960s. The L. cuprina genetics research program was established in 1966 and subsequently expanded in 1971. More recently, lobbying by animal welfare groups against surgical blowfly control practices, as well as increasing consumer awareness of insecticide residues in animal products, have accelerated the search for alternatives to chemical control. When SIT was first considered for L. cuprina control in 1960, little was known about the population dynamics of L. cuprina. There were insufficient ecological data to evaluate the prospects of alternative strategies such as suppression or containment. The number of flies which would have to be released in a SIT program was unknown, as were the costs. Assuming that the cost of

  11. The risk of menstrual abnormalities after tubal sterilization: a case control study

    OpenAIRE

    shobeiri, Mehri Jafari; AtashKhoii, Simin

    2005-01-01

    Abstract Background Tubal sterilization is the method of family planning most commonly used. The existence of the post-tubal-ligation syndrome of menstrual abnormalities has been the subject of debate for decades. Methods In a cross-sectional study, 112 women with the history of Pomeroy type of tubal ligation achieved by minilaparatomy as the case group and 288 women with no previous tubal ligation as the control group were assessed for menstrual abnormalities. Results Menstrual abnormalities...

  12. Case control study of Electrocardiographic changes in pregnant women

    Directory of Open Access Journals (Sweden)

    Sharddha Singh

    1995-09-01

    Full Text Available Pregnancy causes significant haemodynamic changes and imposes stress on the cardiovascular system. Many healthy women develop signs and symptoms of cardiovascular overload during pregnancy. Knowledge of established normal changes in EKG during normal pregnancy is important. The aim of our study was to detect any early damage to myocardium during pregnancy with the help of electrocardiography. Total of 20 pregnant and 20 non pregnant women were studied. The most significant change observed in ECG was T wave inversion with odds ratio 7.43 (95%. Cl = 1.49 to 41.00. P= 0.005. Stratified analysis showed that there was no confounding role of age in the relationship of T wave inversion and ECG findings. Moreover, a significant relationship between anaemia and T wave inversion was also observed. (0=1.74 ■ 1101.06; P= 0.007.

  13. Ethnic variations in severe maternal morbidity in the UK- a case control study.

    Directory of Open Access Journals (Sweden)

    Manisha Nair

    Full Text Available Previous studies showed a higher risk of maternal morbidity amongst black and other minority ethnic (BME groups, but were unable to investigate whether this excess risk was concentrated within specific BME groups in the UK. Our aim was to analyse the specific risks and to investigate reasons for any disparity.Unmatched case-control analysis using data from the United Kingdom Obstetric Surveillance System (UKOSS, February 2005-January 2013. Cases were 1,753 women who experienced severe morbidity during the peripartum period. Controls were 3,310 women who delivered immediately before the cases in the same hospital. Multivariable logistic regression modelling was used to adjust for known confounders and to understand their effects.Compared with white European women, the odds of severe maternal morbidity were 83% higher among black African women (adjusted odds ratio (aOR = 1.83; 95% Confidence Interval (CI = 1.39-2.40, 80% higher among black Caribbean (aOR = 1.80; 95% CI = 1.14-2.82, 74% higher in Bangladeshi (aOR = 1.74; 95% CI = 1.05-2.88, 56% higher in other non-whites (non-Asian (aOR = 1.56; 95% CI = 1.05-2.33 and 43% higher among Pakistani women (aOR = 1.43; 95% CI = 1.07-1.92. There was no evidence of substantial confounding. Anaemia in current pregnancy, previous pregnancy problems, inadequate utilisation of antenatal care, pre-existing medical conditions, parity>3, and being younger and older were independent risk factors but, the odds of severe maternal morbidity did not differ by socioeconomic status, between smokers and non-smokers or by BMI.This national study demonstrates an increased risk of severe maternal morbidity among women of ethnic minority backgrounds which could not be explained by known risk factors for severe maternal morbidity.

  14. A Note on Penalized Regression Spline Estimation in the Secondary Analysis of Case-Control Data

    KAUST Repository

    Gazioglu, Suzan

    2013-05-25

    Primary analysis of case-control studies focuses on the relationship between disease (D) and a set of covariates of interest (Y, X). A secondary application of the case-control study, often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated due to the case-control sampling, and to avoid the biased sampling that arises from the design, it is typical to use the control data only. In this paper, we develop penalized regression spline methodology that uses all the data, and improves precision of estimation compared to using only the controls. A simulation study and an empirical example are used to illustrate the methodology.

  15. A Note on Penalized Regression Spline Estimation in the Secondary Analysis of Case-Control Data

    KAUST Repository

    Gazioglu, Suzan; Wei, Jiawei; Jennings, Elizabeth M.; Carroll, Raymond J.

    2013-01-01

    Primary analysis of case-control studies focuses on the relationship between disease (D) and a set of covariates of interest (Y, X). A secondary application of the case-control study, often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated due to the case-control sampling, and to avoid the biased sampling that arises from the design, it is typical to use the control data only. In this paper, we develop penalized regression spline methodology that uses all the data, and improves precision of estimation compared to using only the controls. A simulation study and an empirical example are used to illustrate the methodology.

  16. Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls

    DEFF Research Database (Denmark)

    McLaren, Paul J; Coulonges, Cédric; Ripke, Stephan

    2013-01-01

    Multiple genome-wide association studies (GWAS) have been performed in HIV-1 infected individuals, identifying common genetic influences on viral control and disease course. Similarly, common genetic correlates of acquisition of HIV-1 after exposure have been interrogated using GWAS, although...... of European ancestry. Initial association testing identified the SNP rs4418214, the C allele of which is known to tag the HLA-B*57:01 and B*27:05 alleles, as genome-wide significant (p = 3.6 × 10(-11)). However, restricting analysis to individuals with a known date of seroconversion suggested...... no evidence for genetic influence on HIV-1 acquisition (with the exception of CCR5Δ32 homozygosity). Thus, these data suggest that genetic influences on HIV acquisition are either rare or have smaller effects than can be detected by this sample size....

  17. Fragrance allergy and quality of life - a case-control study.

    Science.gov (United States)

    Heisterberg, Maria V; Menné, Torkil; Johansen, Jeanne D

    2014-02-01

    Fragrance ingredients can cause contact allergy, which may affect quality of life (QoL). However, few studies have investigated this topic. To investigate QoL life among subjects with a fragrance allergy as compared with other eczema patients. A case-control survey was sent to subjects with a positive patch test reaction to a fragrance ingredient/marker (n = 550) and to a control group (n = 1100). It contained questions on eczema and the newly developed fragrance QoL index. Participants had been consecutively patch tested at Gentofte University Hospital (2000-2010). The response rate was 65.7%. Information on patch test data was retrieved from the National Contact Dermatitis Database. An increase in impairment of QoL was observed in women with fragrance allergy as compared with the control group (p = 0.042), which was not found among men. Several factors played a significant role in impairment of QoL in women: (i) number of fragrance allergies, (ii) severity of the patch test reaction, (iii) age combined with recent diagnosis; and (iv) allergy to specific fragrance ingredients/markers. Fragrance-allergic subjects are just as affected in their QoL as other eczema patients. However, women, and in particular recently diagnosed young women, seem to be more impaired in their QoL than other eczema patients. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. Without Women No Development: Selected Case Studies from Asia of Non-Formal Education for Women.

    Science.gov (United States)

    Shah, Madhuri, Ed.

    This handbook presents 15 case studies on the non-formal education of women from four Asian countries: India, Bangladesh, Sri Lanka, and Malaysia. The goal of this publication is to provide information about education-related issues concerning women and girls and development. This information is intended for those people, in governmental and…

  19. Educational attainment, perceived control and the quality of women's diets.

    Science.gov (United States)

    Barker, Mary; Lawrence, Wendy; Crozier, Sarah; Robinson, Siân; Baird, Janis; Margetts, Barrie; Cooper, Cyrus

    2009-06-01

    Data from the Southampton Women's Survey have established that women of lower educational attainment have poorer quality diets than those of higher educational attainment. This relationship is strong and graded such that for every increase in level of educational qualification, there is an increase in the likelihood that a woman will have a better quality diet. It is not wholly explained by socio-economic status. Qualitative research carried out in Southampton suggests that women of lower educational attainment may have a poorer diet because they feel they lack control over the food choices they make for themselves and their families. We set out to investigate the relationship between educational attainment, perceived control and quality of diet in a sample of women from Southampton. Cross-sectional study using structured interviews in which women's diet, educational attainment and perceived control were assessed. 19 Children's Centres and baby clinics in Southampton, UK. 372 women, median age 28 years. Quality of diet assessed by prudent diet score produced from principal components analysis of 20-item food frequency questionnaire, and perceived control assessed by a validated questionnaire. Women of lower educational attainment tended to have lower prudent diet scores and lower perceived control scores than women of higher educational attainment. Having a lower prudent diet score was associated with consuming fewer vegetables and vegetable dishes, less wholemeal bread and vegetarian food, and more chips and roast potatoes, meat pies, Yorkshire puddings and pancakes, crisps and snacks, white bread and added sugar. In a regression model both lower educational attainment and lower perceived control were associated with lower prudent diet scores, independent of the effects of confounding factors. However there was an interaction effect such that lower perceived control was only related to prudent diet score in the group of women of lower educational attainment. Women

  20. Abused women's experiences of a primary care identification and referral intervention: a case study analysis.

    Science.gov (United States)

    Bradbury-Jones, Caroline; Clark, Maria; Taylor, Julie

    2017-12-01

    The aim of this study was to report the findings of a qualitative case study that investigated abused women's experiences of an identification and referral intervention and to discuss the implications for nurses, specifically those working in primary and community care. Domestic violence and abuse is a significant public health issue globally but it is a hidden problem that is under-reported. In the UK, Identification and Referral to Improve Safety is a primary care-based intervention that has been found to increase referral rates of abused women to support and safety services. This paper reports on the findings of an evaluation study of two sites in England. Qualitative study with a case study design. In line with case study design, the entire evaluation study employed multiple data collection methods. We report on the qualitative interviews with women referred through the programme. The aim was to elicit their experiences of the three aspects of the intervention: identification; referral; safety. Data collection took place March 2016. Ten women took part. Eight had exited the abusive relationship but two remained with the partner who had perpetrated the abuse. Women were overwhelmingly positive about the programme and irrespective of whether they had remained or exited the relationship all reported perceptions of increased safety and improved health. Nurses have an important role to play in identifying domestic violence and abuse and in referral and safety planning. As part of a portfolio of domestic violence and abuse interventions, those that empower women to take control of their safety (such as Identification and Referral to Improve Safety) are important. © 2017 John Wiley & Sons Ltd.

  1. Design of PID Controller Simulator based on Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Fahri VATANSEVER

    2013-08-01

    Full Text Available PID (Proportional Integral and Derivative controllers take an important place in the field of system controlling. Various methods such as Ziegler-Nichols, Cohen-Coon, Chien Hrones Reswick (CHR and Wang-Juang-Chan are available for the design of such controllers benefiting from the system time and frequency domain data. These controllers are in compliance with system properties under certain criteria suitable to the system. Genetic algorithms have become widely used in control system applications in parallel to the advances in the field of computer and artificial intelligence. In this study, PID controller designs have been carried out by means of classical methods and genetic algorithms and comparative results have been analyzed. For this purpose, a graphical user interface program which can be used for educational purpose has been developed. For the definite (entered transfer functions, the suitable P, PI and PID controller coefficients have calculated by both classical methods and genetic algorithms and many parameters and responses of the systems have been compared and presented numerically and graphically

  2. Oral bisphosphonates and risk of atrial fibrillation and flutter in women: a self-controlled case-series safety analysis.

    Directory of Open Access Journals (Sweden)

    Anthony Grosso

    Full Text Available A recent trial unexpectedly reported that atrial fibrillation, when defined as serious, occurred more often in participants randomized to an annual infusion of the relatively new parenteral bisphosphonate, zoledronic acid, than among those given placebo, but had limited power. Two subsequent population-based case-control studies of patients receiving a more established oral bisphosphonate, alendronic acid, reported conflicting results, possibly due to uncontrolled confounding factors.We used the United Kingdom General Practice Research Database to assess the risk of atrial fibrillation and flutter in women exposed to the oral bisphosphonates, alendronic acid and risedronate sodium. The self-controlled case-series method was used to minimise the potential for confounding. The age-adjusted incidence rate ratio for atrial fibrillation or flutter in individuals during their exposure to these oral bisphosphonates (n = 2195 was 1.07 (95% CI 0.94-1.21. The age-adjusted incidence rate ratio for alendronic acid (n = 1489 and risedronate sodium (n = 649 exposed individuals were 1.09 (95% CI 0.93-1.26 and 0.99 (95% CI 0.78-1.26 respectively. In post-hoc analyses, an increased risk of incident atrial fibrillation or flutter was detected for patients during their first few months of alendronic acid therapy.We found no robust evidence of an overall long-term increased risk of atrial fibrillation or flutter associated with continued exposure to the oral bisphosphonates, alendronic acid and risedronate sodium. A possible signal for an increase in risk during the first few months of therapy with alendronic acid needs to be re-assessed in additional studies.

  3. Effectiveness of malaria control interventions in Madagascar: a nationwide case-control survey.

    Science.gov (United States)

    Kesteman, Thomas; Randrianarivelojosia, Milijaona; Raharimanga, Vaomalala; Randrianasolo, Laurence; Piola, Patrice; Rogier, Christophe

    2016-02-11

    Madagascar, as other malaria endemic countries, depends mainly on international funding for the implementation of malaria control interventions (MCI). As these funds no longer increase, policy makers need to know whether these MCI actually provide the expected protection. This study aimed at measuring the effectiveness of MCI deployed in all transmission patterns of Madagascar in 2012-2013 against the occurrence of clinical malaria cases. From September 2012 to August 2013, patients consulting for non-complicated malaria in 31 sentinel health centres (SHC) were asked to answer a short questionnaire about long-lasting insecticidal nets (LLIN) use, indoor residual spraying (IRS) in the household and intermittent preventive treatment of pregnant women (IPTp) intake. Controls were healthy all-ages individuals sampled from a concurrent cross-sectional survey conducted in areas surrounding the SHC. Cases and controls were retained in the database if they were resident of the same communes. The association between Plasmodium infection and exposure to MCI was calculated by multivariate multilevel models, and the protective effectiveness (PE) of an intervention was defined as 1 minus the odds ratio of this association. Data about 841 cases (out of 6760 cases observed in SHC) and 8284 controls was collected. The regular use of LLIN provided a significant 51 % PE (95 % CI [16-71]) in multivariate analysis, excluding in one transmission pattern where PE was -11 % (95 % CI [-251 to 65]) in univariate analysis. The PE of IRS was 51 % (95 % CI [31-65]), and the PE of exposure to both regular use of LLIN and IRS was 72 % (95 % CI [28-89]) in multivariate analyses. Vector control interventions avoided yearly over 100,000 clinical cases of malaria in Madagascar. The maternal PE of IPTp was 73 %. In Madagascar, LLIN and IRS had good PE against clinical malaria. These results may apply to other countries with similar transmission profiles, but such case-control surveys could be

  4. Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families

    Science.gov (United States)

    2015-06-01

    Development- Graphic Designer Milestone: Creation of usual care brochure , logo, and other graphics for ll/2014 50 intervention. Subtask 4d...Participants will be randomized using a list created by the statistician. All women will receive a pamphlet on hereditary cancer risk and genetic

  5. Risk factors for maternal mortality in the west of Iran: a nested case-control study

    Directory of Open Access Journals (Sweden)

    Jalal Poorolajal

    2014-11-01

    Full Text Available OBJECTIVES: With a gradual decline in maternal mortality in recent years in Iran, this study was conducted to identify the remaining risk factors for maternal death. METHODS: This 8-year nested case-control study was conducted in Hamadan Province, in the west of Iran, from April 2006 to March 2014. It included 185 women (37 cases and 148 controls. All maternal deaths that occurred during the study period were considered cases. For every case, four women with a live birth were selected as controls from the same area and date. Conditional logistic regression analysis was performed and the odds ratio (OR and its 95% confidence interval (CI were obtained for each risk factor. RESULTS: The majority of cases were aged 20-34 years, died in hospital, and lived in urban areas. The most common causes of death were bleeding, systemic disease, infection, and pre-eclampsia. The OR estimate of maternal death was 8.48 (95% CI=1.26-56.99 for advanced maternal age (≥35 years; 2.10 (95% CI=0.07-65.43 for underweight and 10.99 (95% CI=1.65-73.22 for overweight or obese women compared to those with normal weight; 1.56 (95% CI=1.08-2.25 for every unit increase in gravidity compared to those with one gravidity; 1.73 (95% CI=0.34-8.88 for preterm labors compared to term labors; and 17.54 (95% CI= 2.71-113.42 for women with systemic diseases. CONCLUSIONS: According to our results, advanced maternal age, abnormal body mass index, multiple gravidity, preterm labor, and systemic disease were the main risk factors for maternal death. However, more evidence based on large cohort studies in different settings is required to confirm our results.

  6. Periodontal disease and spontaneous preterm birth: a case control study

    Directory of Open Access Journals (Sweden)

    Eley Barry

    2006-07-01

    Full Text Available Abstract Background Several studies have suggested an association between periodontal disease and prematurity but this finding has not been consistently observed. Methods Case control study. Cases (n = 50 were women who had delivered after spontaneous preterm labor at Results There was no difference in the proportion of sites with significant attachment loss (≥3 mm: Cases-3.2%, Controls-2.2% p = 0.21. The gingival crevicular fluid concentrations of elastase and gingipain were elevated in cases vs. controls 238.8 uU/ul vs. 159.6 uU/ul p = .007 and 2.70 uU/ul vs. 1.56 uU/ul p = .001. On multivariate analysis, the mean log concentration of elastase, but not of gingipain, remained a significant predictor of preterm labor p = .0.015. Conclusion We found no evidence that clinical periodontal disease is associated with spontaneous preterm birth. Elevated gingival crevicular fluid levels of elastase were associated with preterm birth but further research is needed before this can be assumed to be a causal relationship.

  7. Depression, anxiety, stress and hyperemesis gravidarum: temporal and case controlled correlates.

    Directory of Open Access Journals (Sweden)

    Peng Chiong Tan

    Full Text Available OBJECTIVE: To evaluate the temporal and case-controlled correlations of anxiety, depression and stress with hyperemesis gravidarum. STUDY DESIGN: We performed a longitudinal cohort study of women with hyperemesis gravidarum using the Depression, Anxiety and Stress Scale (DASS-21 to evaluate psychological distress at hospitalization and in the third trimester of pregnancy (from 28 weeks gestation. Third pregnancy trimester controls were recruited from routine antenatal clinic attendees who were matched to gestational age at the second DASS-21 assessment in the HG cohort. RESULTS: The prevalences of nausea and vomiting, depression, anxiety and stress caseness in newly hospitalised hyperemesis gravidarum women were 100% and 100%, 19%, 69% and 21% which by the third trimester had fallen to 15.7% and 9.9%, 4%, 19% and 3% and in third trimester controls were 15.9% and 14.2%, 14%, 61% and 20% respectively. Within the hyperemesis gravidarum cohort, nausea, vomiting depression, anxiety and stress reduced significantly by an absolute 84.3% (95% CI 76.2%-89.8%, 90.1% (82.8%-94.2%, 14.9% (7.2%-23.0%, 49.6% (38.6%-58.7% and 18.2% (10.4%-26.4% respectively between hospitalization for hyperemesis gravidarum and at the third trimester. In the third trimester, when comparing the hyperemesis gravidarum cohort to controls, the risk of nausea or vomiting was similar but depression, anxiety and stress were significantly lower: adjusted odds ratio AOR 0.10 (95% CI 0.03-0.5, 0.11 (0.05-0.23 and 0.08 (0.02-0.33 respectively. CONCLUSION: Our study revealed a reassuring pattern of a strong rebound from depression, anxiety and stress in women with hyperemesis gravidarum such that by the third pregnancy trimester the level of psychological distress was even lower than in controls. This observation imply that much of the psychological distress in acute hyperemesis gravidarum is self-limiting and probably in the causal pathway of hyperemesis gravidarum. Care in women with

  8. Men's controlling behaviors and women's experiences of physical violence in Malawi.

    Science.gov (United States)

    Mandal, Mahua; Hindin, Michelle J

    2013-09-01

    In the feminist paradigm, intimate partner violence (IPV) among heterosexual couples is gender asymmetric and largely a tactic of male control. However, research on the relationship between men's controlling behavior and physical violence against women is limited. This study examines whether having a controlling partner is associated with women's reports of experiencing physical violence in Malawi. Bivariate and multivariate analyses were conducted using data from 8,385 women who completed the domestic violence module of the Malawi 2004 Demographic and Health Survey. About 18 % of women reported they had experienced moderately severe physical violence and 1 % experienced very severe violence in the past 12 months. A third of women reported their partners had ever been controlling. Results from multivariable ordinal logistic regression showed that women who had controlling partners were significantly more likely to report experiencing physical violence. Other factors significantly associated with women's experience of physical violence included women who reported initiating physical violence against their partners, women's work status, partners' lower education level, and partners' alcohol consumption. Women with controlling partners were at increased risk of experiencing physical violence in the past year. However, women who reported initiating physical violence in the past year were nearly four times more likely to experience partner violence in the same time period. Future research should attempt to elucidate these two important risk factors for IPV.

  9. Birth attendance and magnitude of obstetric complications in Western Kenya: a retrospective case-control study.

    Science.gov (United States)

    Liambila, Wilson N; Kuria, Shiphrah N

    2014-09-08

    Skilled birth attendance is critical in the provision of child birth related services. Yet, literature is scanty on the outcomes of child birth related complications in situations where majority of women deliver under the care of non-skilled birth attendants compared to those who are assisted by skilled providers. The study sought to assess the nature of childbirth related complications among the skilled and the non-skilled birth attendants in Western Kenya. A case-control study was conducted among women aged 15-49 years at the household. Controls were individually matched to cases on the basis of age and socio-economic status. A total of 294 cases and 291 controls were interviewed. Data were collected on various demographic and socio-economic characteristics and women's perception on the quality of care. All independent variables were analysed initially in bivariate models and those that were significantly associated with obstetric complications were included in multiple logistic regression model in order to control for confounding factors. Odds ratios (ORs), with 95% confidence intervals, were computed to show the association between the occurrence, magnitude and the extent to which child birth related complications were managed. Demographic and socio-economic characteristics of the cases and controls were similar. About 52% of the deliveries were assisted by skilled birth attendants while non-skilled providers attended to 48% of them. The odds of the occurrence of obstetric complications were greater among the women who were attended to by skilled providers in health facilities: adjusted odds ratio (AOR): 1.32 (CI 0.95, 1.84) than among those who were assisted by unskilled birth attendants, AOR 0.76 (CI 0.55, 1.06). Undignified care, high delivery and transport costs and fear of hospital procedures such as HIV tests and mishandling of the placenta were cited as some of the barriers to facility deliveries. Skilled birth attendants in facilities were associated

  10. Characterization of postural control impairment in women with fibromyalgia

    Science.gov (United States)

    Sempere-Rubio, Núria; López-Pascual, Juan; Aguilar-Rodríguez, Marta; Cortés-Amador, Sara; Espí-López, Gemma; Villarrasa-Sapiña, Israel

    2018-01-01

    The main goal of this cross-sectional study was to detect whether women with fibromyalgia syndrome (FMS) have altered postural control and to study the sensory contribution to postural control. We also explored the possibility that self-induced anxiety and lower limb strength may be related to postural control. For this purpose, 129 women within an age range of 40 to 70 years were enrolled. Eighty of the enrolled women had FMS. Postural control variables, such as Ellipse, Root mean square (RMS) and Sample entropy (SampEn), in both directions (i.e. mediolateral and anteroposterior), were calculated under five different conditions. A force plate was used to register the center of pressure shifts. Furthermore, isometric lower limb strength was recorded with a portable dynamometer and normalized by lean body mass. The results showed that women with FMS have impaired postural control compared with healthy people, as they presented a significant increase in Ellipse and RMS values (pPostural control also worsens with the gradual alteration of sensory inputs in this population (p0.05). There were no significant correlations between postural control and lower limb strength (p>0.05). Therefore, women with FMS have impaired postural control that is worse when sensory inputs are altered but is not correlated with their lower limb strength. PMID:29723223

  11. [Control of Chagas disease in pregnant Latin-American women and her children].

    Science.gov (United States)

    Merino, Francisco J; Martínez-Ruiz, Rocío; Olabarrieta, Iciar; Merino, Paloma; García-Bujalance, Silvia; Gastañaga, Teresa; Flores-Chavez, María

    2013-09-01

    Chagas disease is a chronic and systemic infection caused by Trypanosoma cruzi. According to estimates from WHO, 10 million people are affected by this parasite. In the last years, birthrate among the immigrant women from Latin America settled in the Comunidad Autónoma de Madrid has been increasing, and as T. cruzi can be transmitted from mother to child, in fact 11 cases of congenital Chagas disease have been confirmed. Therefore, the aim of this paper is encouraging improvements in the coverage of the anti-T. cruzi antibodies detection in pregnant women from endemic areas. By this strategy, an active search for infected pregnant women and early detection of her infected newborns could be conducted, and then an early specific treatment could be administrated. Thus, there could be an important contribution to the control of Chagas disease in non-endemic area.

  12. Genotypic characterisation of human papillomavirus infections among persons living with HIV infection; a case-control study in Kumasi, Ghana.

    Science.gov (United States)

    Yar, Denis Dekugmen; Salifu, Samson Pandam; Darko, Samuel Nkansah; Annan, Augustina Angelina; Gyimah, Akosua Adumea; Buabeng, Kwame Ohene; Owusu-Dabo, Ellis

    2016-02-01

    The objective of this study is to describe the burden of human papillomavirus (HPV) infection among women living with HIV and non-infected women in Ghana. A case-control study was conducted involving 107 women living with HIV aged between 18 and 59 years (cases) and 100 non-HIV-infected apparently healthy women (controls) who were recruited from the Kumasi South Hospital, from July to December, 2014. Cervicovaginal swabs were taken from study participants to characterise 28 high- and low-risk HPV genotypes using a multiplex real-time PCR. The overall mean age for the participants was 40.10 ± 9.76 years. The prevalence of high-risk (hr)-HPV genotypes was significantly higher among the cases than the controls (77.4% vs. 41.6%, P < 0.0001). Overall, HPV 58 and 54 were the most predominant high-risk (18.8%) and low-risk (15.0%) genotypes detected. The two most common hr-HPV genotype isolates were 58 (18.8%) and 35 (15.9%) with 58 being the most prevalent among age group 35-44 years compared with hr-HPV 16, 18, 35 and 45, found predominantly among 18-34 age group. Significant variations exist in HPV genotypes among HIV-infected and uninfected women. © 2015 John Wiley & Sons Ltd.

  13. Oral health status of women with high-risk pregnancies.

    Science.gov (United States)

    Merglova, Vlasta; Hecova, Hana; Stehlikova, Jaroslava; Chaloupka, Pavel

    2012-12-01

    The aim of this study was to investigate the oral health status of women with high-risk pregnancies. A case-control study of 142 pregnant women was conducted. The case group included 81 pregnant women with high-risk pregnancies, while 61 women with normal pregnancies served as controls. The following variables were recorded for each woman: age, general health status, DMF, CPITN, and PBI index, amounts of Streptococcus mutans in the saliva and dental treatment needs. The Mann-Whitney test, Kruskal-Wallis test, t-test and chi-squared test were used for statistical analyses. Statistically significant differences were detected between the PBI indices and dental treatment needs of the two groups. Out of the entire study cohort, 77% of the women in the case group and 52% of the women in the control group required dental treatment. In this study, women with complications during pregnancy had severe gingivitis and needed more frequent dental treatment than those in the control group.

  14. Disease-Concordant Twins Empower Genetic Association Studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size...

  15. Two-stage case-control association study of dopamine-related genes and migraine

    Directory of Open Access Journals (Sweden)

    Pardo Julio

    2009-09-01

    Full Text Available Abstract Background We previously reported risk haplotypes for two genes related with serotonin and dopamine metabolism: MAOA in migraine without aura and DDC in migraine with aura. Herein we investigate the contribution to migraine susceptibility of eight additional genes involved in dopamine neurotransmission. Methods We performed a two-stage case-control association study of 50 tag single nucleotide polymorphisms (SNPs, selected according to genetic coverage parameters. The first analysis consisted of 263 patients and 274 controls and the replication study was composed by 259 cases and 287 controls. All cases were diagnosed according to ICHD-II criteria, were Spanish Caucasian, and were sex-matched with control subjects. Results Single-marker analysis of the first population identified nominal associations of five genes with migraine. After applying a false discovery rate correction of 10%, the differences remained significant only for DRD2 (rs2283265 and TH (rs2070762. Multiple-marker analysis identified a five-marker T-C-G-C-G (rs12363125-rs2283265-rs2242592-rs1554929-rs2234689 risk haplotype in DRD2 and a two-marker A-C (rs6356-rs2070762 risk haplotype in TH that remained significant after correction by permutations. These results, however, were not replicated in the second independent cohort. Conclusion The present study does not support the involvement of the DRD1, DRD2, DRD3, DRD5, DBH, COMT, SLC6A3 and TH genes in the genetic predisposition to migraine in the Spanish population.

  16. A case-control study of association between genetic polymorphisms of metabolizing enzymes GSTM1 and lung cancer susceptibility for the people living in high radon-exposed area

    International Nuclear Information System (INIS)

    Qi Xuesong; Lu Huimin; Xia Ying; Shang Bing; Sun Quanfu; Cui Hongxing; Wang Liping

    2009-01-01

    A case-control study was performed with 53 lung cancer patients and 72 frequency-matched controls to assess the role of genetic polymorphisms of metabolizing enzymes Glutathione S-transferases M1(GSTM1) in risk of developing lung cancer for the people living in high radon-exposed area. The associations between genotypes and risk of developing lung cancer were estimated by odds ratios (ORs) and their 95% confidence intervals (CIs) calculated by unconditional logistic regression. The frequencies of GSTM1 positive polymorphism and null polymorphism were 38.9% and 64.1% respectively in lung cancer patients. The frequencies of GSTM1 positive polymorphism and null polymorphism were 43.1% and 56.9% respectively in controls. The risk of developing lung cancer for GSTM1 null polymorphism was 1.35-fold(95%CI 0.652-2.81). GSTM1 null polymorphism with effective dose <50 mSv could increase the risk of developing lung cancer (OR 1.14, 95%CI 0.198-6.60). The frequency of GSTM1 positive polymorphism of lung cancer patients was lower than that of the controls. Based on those data, the frequency of GSTM1 null polymorphism of lung cancer patients was higher than that of the controls. There was an association between genetic polymorphism of GSTM1 and lung cancer. But the differences were not all statistically significant. (authors)

  17. Evaluation the frequency of factor V Leiden mutation in pregnant women with preeclampsia syndrome in an Iranian population

    Directory of Open Access Journals (Sweden)

    Azadeh Azinfar

    2012-01-01

    Full Text Available Background: Role of genetic factors in etiology of preeclampsia is not confirmed yet.Objective: Gene defect frequency varies in different geographic areas as well as ethnic groups. In this study, the role of factor V Leiden mutation in the pathogenesis of preeclampsia syndrome among the pregnant population of northern shore of Persian Gulf in Iran, were considered.Materials and Methods: Between Jan. 2008 and Dec. 2009, in a nested case control study, pregnant women with preeclampsia (N=198 as cases and healthy (N=201 as controls were enrolled in the study. DNA were extracted from 10 CC peripheral blood and analyzed for presence of factor V Leiden mutation in these subjects. The maternal and neonatal outcomes of pregnancy according to the distribution of factor V Leiden were also compared among cases.Results: In total, 17(8.6% of cases and 2(1% of controls showed the factor V Leiden mutation. The incidence of factor V Leiden was typically higher in preeclamptic women than control group (OR: 9.34 %95 CI: 2.12-41.01. There was no difference in incidence rate of preterm delivery< 37 weeks (OR: 1.23 %95 CI: 0.38-4.02, very early preterm delivery<32 weeks (OR: 1.00 %95 CI: 0.12-8.46, intra uterine fetal growth restriction (IUGR (OR: 1.32 %95 CI: 0.15-11.30 ,and the rate of cesarean section (OR: 0.88 %95 CI: 0.29-2.62 among cases based on the prevalence of factor V Leiden mutation.Conclusion: The pregnant women with factor V Leiden mutation are prone for preeclampsia syndrome during pregnancy, but this risk factor was not correlated to pregnancy complications in the studied women

  18. Incidence, risk factors and perinatal outcomes for placenta accreta in Australia and New Zealand: a case-control study.

    Science.gov (United States)

    Farquhar, Cynthia M; Li, Zhuoyang; Lensen, Sarah; McLintock, Claire; Pollock, Wendy; Peek, Michael J; Ellwood, David; Knight, Marian; Homer, Caroline Se; Vaughan, Geraldine; Wang, Alex; Sullivan, Elizabeth

    2017-10-05

    Estimate the incidence of placenta accreta and describe risk factors, clinical practice and perinatal outcomes. Case-control study. Sites in Australia and New Zealand with at least 50 births per year. Cases were women giving birth (≥20 weeks or fetus ≥400 g) who were diagnosed with placenta accreta by antenatal imaging, at operation or by pathology specimens between 2010 and 2012. Controls were two births immediately prior to a case. A total of 295 cases were included and 570 controls. Data were collected using the Australasian Maternity Outcomes Surveillance System. Incidence, risk factors (eg, prior caesarean section (CS), maternal age) and clinical outcomes of placenta accreta (eg CS, hysterectomy and death). The incidence of placenta accreta was 44.2/100 000 women giving birth (95% CI 39.4 to 49.5); however, this may overestimated due to the case definition used. In primiparous women, an increased odds of placenta accreta was observed in older women (adjusted OR (AOR) women≥40 vs accreta were more likely to have a caesarean section (AOR: 4.6, 95% CI 2.7 to 7.6) to be admitted to the intensive care unit (ICU)/high dependency unit (AOR: 46.1, 95% CI 22.3 to 95.4) and to have a hysterectomy (AOR: 209.0, 95% CI 19.9 to 875.0). Babies born to women with placenta accreta were more likely to be preterm, be admitted to neonatal ICU and require resuscitation. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Is infertility a risk factor for female sexual dysfunction? A case-control study.

    Science.gov (United States)

    Millheiser, Leah S; Helmer, Amy E; Quintero, Rodolfo B; Westphal, Lynn M; Milki, Amin A; Lathi, Ruth B

    2010-11-01

    To determine the impact of infertility on female sexual function. A case-control study. Academic infertility and gynecology practices. One hundred nineteen women with infertility and 99 healthy female controls without infertility between the ages of 18 and 45 years were included in this study. Anonymous survey and Female Sexual Function Index. Female Sexual Function Index scores, frequency of sexual intercourse and masturbation, and sex-life satisfaction. Twenty-five percent of our control group had Female Sexual Function Index scores that put them at risk for sexual dysfunction (masturbation. The patients with infertility retrospectively reported a sex-life satisfaction score that was similar to that of the controls before their diagnosis, whereas their current sex-life satisfaction scores were significantly lower than those of the controls. Women with a diagnosis of infertility were found to be at higher risk for sexual dysfunction on the basis of their Female Sexual Function Index scores compared with women without infertility. The interaction of sexual function and infertility is complex and deserves further study. Copyright © 2010. Published by Elsevier Inc.

  20. The association of dietary pattern and breast cancer in Jiangsu, China: A population-based case-control study.

    Directory of Open Access Journals (Sweden)

    Shurong Lu

    Full Text Available This study aims to examine the association of breast cancer with dietary patterns among Chinese women. A population-based case-control study was conducted in Jiangsu, China. Newly diagnosed primary breast cancer patients were recruited as cases (n = 818. Controls (n = 935, selected from the general population, were frequency matched to cases. A validated food frequency questionnaire was used to assess dietary intake. Dietary patterns were identified by factor analysis and multivariable odds ratios (OR and 95% confidence intervals (CI were estimated. Four dietary patterns were identified: salty, vegetarian, sweet and traditional Chinese. The traditional Chinese pattern was found to be robustly associated with a lower risk of breast cancer among both pre- and post-menopausal women (4th vs. 1st quartile: OR for pre- and post-menopausal women was 0.47 and 0.68, respectively. Women with high factor scores of the sweet pattern also showed a decreased risk of breast cancer (4th vs. 1st quartile: OR for pre- and post-menopausal women was 0.47 and 0.68, respectively. No marked association was observed between a vegetarian pattern or a salty pattern and breast cancer. These findings indicate that dietary patterns of the traditional Chinese and the sweet may favorably associate with the risk of breast cancer among Chinese women.

  1. Women's social networks and use of facility delivery services for uncomplicated births in North West Ethiopia: a community-based case-control study.

    Science.gov (United States)

    Asrese, Kerebih; Adamek, Margaret E

    2017-12-28

    High maternal mortality has remained an unmet public health challenge in the developing world. Maternal mortality in Ethiopia is among the highest in the world. Since most maternal deaths occur during labor, delivery, and the immediate postpartum period, facility delivery with skilled birth attendants is recommended to reduce maternal mortality. Nonetheless, the majority of women in Ethiopia give birth at home. Individual attributes and availability and accessibility of services deter service utilization. The role of social networks that may facilitate or constrain service use is not well studied. Community-based case-control study was conducted between February and March 2014 in Jabi Tehinan District, North West Ethiopia. Retrospective data were collected from 134 women who had uncomplicated births at health facilities and 140 women who had uncomplicated births at home within a year preceding the survey. Interviews were held with eight women who had uncomplicated births at health facilities and 11 who had uncomplicated births at home. The quantitative data were entered and analyzed using SPSS for Windows versions 16.0 and hierarchical logistic regression model was used for analysis. The qualitative data were transcribed verbatim and data were used to substantiate the quantitative data. The results indicated that social network variables were significantly associated with the use of health facilities for delivery. Taking social networks into account improved the explanation of facility use for delivery services over women's individual attributes. Women embedded within homogeneous network members (Adjusted OR 2.53; 95% CI: 1.26-5.06) and embedded within high SBA endorsement networks (Adjusted OR 7.97; 95% CI: 4.07-12.16) were more likely to deliver at health facilities than their counterparts. Women living in urban areas (Adjusted OR 3.32; 95% CI: 1.37-8.05) and had better knowledge of obstetric complications (Adjusted OR 3.01; 95% CI: 1.46-6.18) were more likely to

  2. Obstetric performance of ethnic Kosovo Albanian asylum seekers in London: a case-control study.

    Science.gov (United States)

    Yoong, W; Wagley, A; Fong, C; Chukwuma, C; Nauta, M

    2004-08-01

    The most recent Confidential Enquiry into Maternal Deaths expressed concern that mortality in women from non-English-speaking ethnic groups was twice that of native-born women. There are very few published data on the obstetric performance of Kosovo Albanian refugees who have relocated to the United Kingdom and the aim of this study was to compare the obstetric performances of Kosovo Albanian women currently residing in the United Kingdom with their British-born Caucasian counterparts. Sixty-one index and 61 control cases were analysed; 63% of the Kosovo Albanian women spoke little or no English and 50% were on income support. Of the study group, 9.8% had caesarean sections, 8.2% had instrumental vaginal deliveries and 82% achieved normal deliveries. The Kosovo Albanian women were statistically younger and had shorter duration of labour compared to controls (P labour (IOL), caesarean section, instrumental deliveries, premature delivery and low birth weight 0.05 in all cases, chi2 test) between the two groups. This is the first study to examine the obstetric outcomes of Kosovo Albanian women who have resettled in a western European country. Most Kosovo Albanian refugees living in the United Kingdom are not socio-economic migrants but displaced due to civil unrest and many had reasonable socio-economic status prior to resettlement. The similarity in obstetric and fetal outcomes between the study and control groups could be attributed to the 'healthy immigrant effect', where immigrant groups appear to have better outcomes due to family support and relatively lower intake of alcohol and nicotine. It also suggests that obstetricians may be heeding the recommendations from recent Confidential Enquiry into Maternal Deaths, which highlight the need for increased vigilance in women from ethnic minorities.

  3. Diabetes, glycemic control, and urinary incontinence in women

    Science.gov (United States)

    Wang, Rui; Lefevre, Roger; Hacker, Michele R.; Golen, Toni H.

    2015-01-01

    OBJECTIVES To estimate the association between urinary incontinence and glycemic control in women ages 20 to 85. METHODS We included 7,270 women from the 2005–2010 National Health and Nutrition Examination Survey, stratified into three groups of glycemic control defined by hemoglobin A1c (HbA1c): i) those below the diagnostic threshold (HbA1c8.5%) to allow for a different relationship between glycemic control and urinary incontinence within each group. The primary outcomes were the presence of any, only stress, only urgency, and mixed urinary incontinence. We calculated adjusted risk ratios using Poisson regressions with robust variance estimates. RESULTS The survey-weighted prevalence was 52.9% for any, 27.2% for only stress, 9.9% for only urgency, and 15.8% for mixed urinary incontinence. Among women with relatively controlled diabetes, each one-unit increase in HbA1c was associated with a 13% (95% CI: 1.03–1.25) increase for any urinary incontinence and a 34% (95% CI 1.06–1.69) increase in risk for only stress incontinence but was not significantly associated with only urgency and mixed incontinence. Other risk factors included body mass index, hormone replacement therapy, smoking, and physical activity. CONCLUSIONS Worsening glycemic control is associated with an increased risk for stress incontinence for women with relatively controlled diabetes. For those either below the diagnostic threshold or with poorly controlled diabetes, the risk may be driven by other factors. Further prospective investigation of HbA1c as a modifiable risk factor may motivate measures to improve continence in women with diabetes. PMID:26313496

  4. Impact of violence against women on severe acute maternal morbidity in the intensive care unit, including neonatal outcomes: a case-control study protocol in a tertiary healthcare facility in Lima, Peru.

    Science.gov (United States)

    Ayala Quintanilla, Beatriz Paulina; Pollock, Wendy E; McDonald, Susan J; Taft, Angela J

    2018-03-14

    Preventing and reducing violence against women (VAW) and maternal mortality are Sustainable Development Goals. Worldwide, the maternal mortality ratio has fallen about 44% in the last 25 years, and for one maternal death there are many women affected by severe acute maternal morbidity (SAMM) requiring management in the intensive care unit (ICU). These women represent the most critically ill obstetric patients of the maternal morbidity spectrum and should be studied to complement the review of maternal mortality. VAW has been associated with all-cause maternal deaths, and since many women (30%) endure violence usually exerted by their intimate partners and this abuse can be severe during pregnancy, it is important to determine whether it impacts SAMM. Thus, this study aims to investigate the impact of VAW on SAMM in the ICU. This will be a prospective case-control study undertaken in a tertiary healthcare facility in Lima-Peru, with a sample size of 109 cases (obstetric patients admitted to the ICU) and 109 controls (obstetric patients not admitted to the ICU selected by systematic random sampling). Data on social determinants, medical and obstetric characteristics, VAW, pregnancy and neonatal outcome will be collected through interviews and by extracting information from the medical records using a pretested form. Main outcome will be VAW rate and neonatal mortality rate between cases and controls. VAW will be assessed by using the WHO instrument. Binary logistic followed by stepwise multivariate regression and goodness of fit test will assess any association between VAW and SAMM. Ethical approval has been granted by the La Trobe University, Melbourne-Australia and the tertiary healthcare facility in Lima-Peru. This research follows the WHO ethical and safety recommendations for research on VAW. Findings will be presented at conferences and published in peer-reviewed journals. © Article author(s) (or their employer(s) unless otherwise stated in the text of the

  5. Risk Factors for Maternal Mortality in Rural Tigray, Northern Ethiopia: A Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Hagos Godefay

    Full Text Available Maternal mortality continues to have devastating impacts in many societies, where it constitutes a leading cause of death, and thus remains a core issue in international development. Nevertheless, individual determinants of maternal mortality are often unclear and subject to local variation. This study aims to characterise individual risk factors for maternal mortality in Tigray, Ethiopia.A community-based case-control study was conducted, with 62 cases and 248 controls from six randomly-selected rural districts. All maternal deaths between May 2012 and September 2013 were recruited as cases and a random sample of mothers who delivered in the same communities within the same time period were taken as controls. Multiple logistic regression was used to identify independent determinants of maternal mortality.Four independent individual risk factors, significantly associated with maternal death, emerged. Women who were not members of the voluntary Women's Development Army were more likely to experience maternal death (OR 2.07, 95% CI 1.04-4.11, as were women whose husbands or partners had below-median scores for involvement during pregnancy (OR 2.19, 95% CI 1.14-4.18. Women with a pre-existing history of other illness were also at increased risk (OR 5.58, 95% CI 2.17-14.30, as were those who had never used contraceptives (OR 2.58, 95% CI 1.37-4.85. Previous pregnancy complications, a below-median number of antenatal care visits and a woman's lack of involvement in health care decision making were significant bivariable risks that were not significant in the multivariable model.The findings suggest that interventions aimed at reducing maternal mortality need to focus on encouraging membership of the Women's Development Army, enhancing husbands' involvement in maternal health services, improving linkages between maternity care and other disease-specific programmes and ensuring that women with previous illnesses or non-users of contraceptive services

  6. Sexual health of women with spinal cord injury in Bangladesh

    NARCIS (Netherlands)

    Lubbers, N.P.M; Nuri, R.P; van Brakel, W.H.; Cornielje, H.

    2012-01-01

    Purpose: To identify factors influencing the sexual health of women with spinal cord injury (SCI) in Bangladesh. Methods: This study used both qualitative and quantitative methods. The quantitative part used a case-control design. Cases were women with SCI and controls were age-matched women without

  7. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

    Directory of Open Access Journals (Sweden)

    Kashizaki Fumihiro

    2013-02-01

    Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

  8. Intrahousehold resource allocation and child growth in Mozambique: an ethnographic case-control study.

    Science.gov (United States)

    Pfeiffer, J; Gloyd, S; Ramirez Li, L

    2001-07-01

    This study examines the effect of intrahousehold cash income control and decision-making patterns on child growth in the rural town of Sussundenga in Manica Province, Mozambique. A case-control study design was used to examine the influence of men's and women's disaggregated cash incomes on child growth. The research tested whether greater maternal share of household cash income was associated with (1) increased maternal decision-making and bargaining power in the household, and (2) better child growth. Fifty case households, with children 1-4 years old exhibiting poor growth, were matched with 50 control households of similar socioeconomic status in which all children under five demonstrated healthy growth. Data were gathered on gender-specific income generation and expenditure, specific intrahousehold allocation processes, diet, and sociodemographic variables using a formal survey. Key informant interviews, focus groups, and observation over one year provided ethnographic context for the case-control findings. Case-control differences were analyzed using McNemar's test, paired t-test, and conditional logistic regression. In spite of matching households for socioeconomic status, control household incomes were still slightly greater than cases. Male spouse income was also higher among controls while maternal income, and maternal proportion of household income, were not significantly different. Household meat, fish and poultry consumption, and maternal education were significantly greater among control households than cases. Greater maternal share of household income was not associated with greater maternal decision-making around cash. However, mothers must spend what little cash they earn on daily food supplies and usually request additional cash from spouses to cover these costs. There is evidence that if mothers earn enough to cover these socially prescribed costs, they can spend cash for other needs. Above this threshold, women's earnings may confer more

  9. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study.

    Science.gov (United States)

    Papadimitriou, George N; Dikeos, Dimitris G; Souery, Daniel; Del-Favero, Jurgen; Massat, Isabelle; Avramopoulos, Dimitrios; Blairy, Sylvie; Cichon, Sven; Ivezic, Sladjana; Kaneva, Radka; Karadima, Georgia; Lilli, Roberta; Milanova, Vihra; Nöthen, Markus; Oruc, Lilijana; Rietschel, Marcella; Serretti, Alessandro; Van Broeckhoven, Christine; Stefanis, Costas N; Mendlewicz, Julien

    2003-12-01

    The co-segregation in one pedigree of bipolar affective disorder with Darier's disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.

  10. A novel CYBB mutation with the first genetically confirmed case of ...

    African Journals Online (AJOL)

    A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene – the first South African report of genetically confirmed CGD.

  11. Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study

    International Nuclear Information System (INIS)

    Resler, Alexa J; Malone, Kathleen E; Johnson, Lisa G; Malkki, Mari; Petersdorf, Effie W; McKnight, Barbara; Madeleine, Margaret M

    2013-01-01

    Toll-like receptors (TLRs) and the transcription factor nuclear factor-κB (NFκB) are important in inflammation and cancer. We examined the association between breast cancer risk and 233 tagging single nucleotide polymorphisms within 31 candidate genes involved in TLR or NFκB pathways. This population-based study in the Seattle area included 845 invasive breast cancer cases, diagnosed between 1997 and 1999, and 807 controls aged 65–79. Variant alleles in four genes were associated with breast cancer risk based on gene-level tests: MAP3K1, MMP9, TANK, and TLR9. These results were similar when the risk of breast cancer was examined within ductal and luminal subtypes. Subsequent exploratory pathway analyses using the GRASS algorithm found no associations for genes in TLR or NFκB pathways. Using publicly available CGEMS GWAS data to validate significant findings (N = 1,145 cases, N = 1,142 controls), rs889312 near MAP3K1 was confirmed to be associated with breast cancer risk (P = 0.04, OR 1.15, 95% CI 1.01–1.30). Further, two SNPs in TANK that were significant in our data, rs17705608 (P = 0.05) and rs7309 (P = 0.04), had similar risk estimates in the CGEMS data (rs17705608 OR 0.83, 95% CI 0.72–0.96; CGEMS OR 0.90, 95% CI 0.80–1.01 and rs7309 OR 0.83, 95% CI 0.73–0.95; CGEMS OR 0.91, 95% CI 0.81–1.02). Our findings suggest plausible associations between breast cancer risk and genes in TLR or NFκB pathways. Given the few suggestive associations in our data and the compelling biologic rationale for an association between genetic variation in these pathways and breast cancer risk, further studies are warranted that examine these effects

  12. Organohalogen body burdens in a breast cancer case-control study

    Energy Technology Data Exchange (ETDEWEB)

    Petreas, M.; She, J.; Visita, P.; Winkler, J. [Hazardous Materials Lab., California Dept. of Toxic Substances Control, Berkeley, CA (United States); Hurley, S.; Smith, D.; Reynolds, P. [Environmental Health Investigations Branch, California Dept. of Health Services, Oakland, CA (United States); Jeffrey, S.; Mahoney, E. [Dept. of Surgery, Stanford Univ. School of Medicine, Stanford, CA (United States)

    2004-09-15

    Due to their lipophilic properties, dioxins (PCDD/PCDFs) and other organohalogen compounds bioaccumulate in the food chain, with diet accounting for over 90% of non-occupational exposures. To date, few epidemiologic studies have examined the relationship between dioxins and breast cancer in human populations. Most have examined risks in occupational cohorts or in populations exposed to dioxins from the Seveso accident6-8. Results from these studies have been conflicting and have largely been limited by a lack of individual-level measures of exposure, small numbers of cases, and inability to account for established breast cancer risk factors. Very little is known about the potential health effects of low-level environmental dioxin contamination. We present data on PCDD/PCDFs, organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), and polybrominated diphenyl ethers (PBDEs) in adipose tissues of women participating in a breast cancer case-control study centered in the San Francisco Bay Area. In addition, we examine distributions of these chemicals in breast and abdominal adipose of women undergoing mastectomies with concurrent breast reconstruction. If concentrations were equivalent, use of abdominal adipose would greatly enhance the pool for controls for future epidemiological studies.

  13. Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires--an Italian exploratory study.

    Science.gov (United States)

    Catania, Chiara; Feroce, Irene; Barile, Monica; Goldhirsch, Aron; De Pas, Tommaso; de Braud, Filippo; Boselli, Sabrina; Adamoli, Laura; Radice, Davide; Rossi, Alessandra; Spitaleri, Gianluca; Noberasco, Cristina; Bonanni, Bernardo

    2016-03-01

    of being ill, which influenced their ability to make life decisions. Genetic counselling often improves this perception, especially in subjects who have negative tests and this knowledge facilitates their life plans. After testing, most women felt satisfied and safer because of being properly followed by professionally trained and sympathetic staff. In conclusion, knowledge of the real individual risk, the presence of a professional team, and the possibility of entering a programme of controlled screening enable patients rather than living in fear and uncertainty to be less anxious about their state of health and to live with the knowledge that they are doing everything possible to care for themselves, aided by a specialized team, and that, if necessary, they would be able to take part in investigational studies.

  14. Lifestyle factors and breast cancer: a case-control study in Kuala Lumpur, Malaysia.

    Science.gov (United States)

    Kamarudin, Rozanim; Shah, Shamsul Azhar; Hidayah, Noor

    2006-01-01

    Breast cancer is the most common female cancer and the commonest cause of death due to cancer for women in Malaysia. This study was performed to identify the relationship with lifestyle factors. A case-control study was conducted among females with breast cancer who came for treatment to the Breast Clinic Hospital Kuala Lumpur in July until September 2004. A total of 203 female patients were recruited as cases along with 203 patients who attended the Outpatient Clinic, Hospital Kuala Lumpur during the study period as the controls. The study showed women who did not exercise regularly to have four times higher risk (adjusted odds ratio is 3.49, 95% CI is 1.84 to 6.62) compared to those who exercised regularly. Women with a high fat diet were also at elevated risk (adjusted odds ratio 3.84, 95% CI is 1.20 to 12.34) compared to those consuming a low fat diet. Women without breast cancer generally had a longer duration of lifetime lactation with a median of thirty-three months compared to women with breast cancer (twenty months, p<0.05). Women who did not take oral contraceptive pills but had breast-fed their child have a 56.0% lower risk (crude odds ratio 0.44, CI is 0.22 to 0.87) compared to women who did not take oral contraceptive pill and also did not breast-feed their child. If they had breast fed for thirteen months and above, they faced a 61.0% lower risk (crude odds ratio 0.39, 95% CI is 0.17 to 0.87). There was a significant inverse trend for lifetime lactation and breast cancer risk. In conclusion certain life styles of women are associated with a higher risk of breast cancer development. Therefore, the promotion of a healthy life style should be emphasized.

  15. Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortium

    Science.gov (United States)

    Yao, Song; Haddad, Stephen A.; Hu, Qiang; Liu, Song; Lunetta, Kathryn L.; Ruiz-Narvaez, Edward A.; Hong, Chi-Chen; Zhu, Qianqian; Sucheston-Campbell, Lara; Cheng, Ting-Yuan David; Bensen, Jeannette T.; Johnson, Candace S.; Trump, Donald L.; Haiman, Christopher A.; Olshan, Andrew F.; Palmer, Julie R.; Ambrosone, Christine B.

    2016-01-01

    Studies of genetic variations in vitamin D-related pathways and breast cancer risk have been conducted mostly in populations of European ancestry, and only sparsely in African Americans (AA), who are known for a high prevalence of vitamin D deficiency. We analyzed 24,445 germline variants in 63 genes from vitamin D-related pathways in the African American Breast Cancer Epidemiology and Risk (AMBER) consortium, including 3,663 breast cancer cases and 4,687 controls. Odds ratios (OR) were derived from logistic regression models for overall breast cancer, by estrogen receptor (ER) status (1,983 ER positive and 1,098 ER negative), and for case-only analyses of ER status. None of the three vitamin D-related pathways were associated with breast cancer risk overall or by ER status. Gene-level analyses identified associations with risk for several genes at a nominal p ≤ 0.05, particularly for ER− breast cancer, including rs4647707 in DDB2. In case-only analyses, vitamin D metabolism and signaling pathways were associated with ER− cancer (pathway-level p = 0.02), driven by a single gene CASR (gene-level p = 0.001). The top SNP in CASR was rs112594756 (p = 7 × 10−5, gene-wide corrected p = 0.01), followed by a second signal from a nearby SNP rs6799828 (p = 1 × 10−4, corrected p = 0.03). In summary, several variants in vitamin D pathways were associated with breast cancer risk in AA women. In addition, CASR may be related to tumor ER status, supporting a role of vitamin D or calcium in modifying breast cancer phenotypes. PMID:26650177

  16. Changes of insulin resistance and β-cell function in women with gestational diabetes mellitus and normal pregnant women during mid- and late pregnant period: a case-control study.

    Science.gov (United States)

    Wang, Yun-Hui; Wu, Hui-Hua; Ding, Hong; Li, Yan; Wang, Zhen-Hua; Li, Feng; Zhang, Jian-Ping

    2013-03-01

    The aim of this study was to observe insulin resistance and β-cell function changes among women diagnosed with gestational impaired glucose tolerance or gestational diabetes mellitus (GDM) in mid-pregnancy. Sixty-four pregnant women receiving prenatal care underwent an oral glucose tolerance test at 20-24 weeks of gestation and an insulin release test. The GDM group included 34 pregnant women diagnosed with gestational impaired glucose tolerance or GDM, and the subjects with normal blood glucose were the control group. Insulin resistance and islet β-cell function changes were observed with the oral glucose tolerance test and insulin release test. The homeostatic model assessment-β levels in late pregnancy were higher than those in mid-pregnancy for both groups, and the primary time effect was statistically significant. The early insulin secretion index (ΔI(30)/ΔG(30)) values in mid- and late pregnancy were lower in the GDM group. The values of the area under the curve of blood glucose in mid- and late pregnancy were higher in the GDM group than those in the control group. Insulin resistance was higher in GDM patients than in normal pregnant women. Insulin resistance was aggravated, and β-cell's ability to compensate for the increased insulin resistance by modulating insulin secretion was aggravated, as gestational week increased in women with gestational diabetes and normal pregnant women. Insulin resistance in women with GDM is higher than in pregnant women with normal metabolism of glucose. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

  17. Occupational lifting is associated with hip osteoarthritis: a Japanese case-control study.

    Science.gov (United States)

    Yoshimura, N; Sasaki, S; Iwasaki, K; Danjoh, S; Kinoshita, H; Yasuda, T; Tamaki, T; Hashimoto, T; Kellingray, S; Croft, P; Coggon, D; Cooper, C

    2000-02-01

    Hip osteoarthritis (OA) is a frequent cause of pain and disability in Western countries, but the disorder is less common in Japan. A case-control study in Britain found obesity, hip injury, and occupational lifting to be associated with hip OA among men and women. However, there are few epidemiological studies concerning factors associated with hip OA in Japan. We performed a comparable case-control study of the disorder in Japan, and contrasted the findings with those from Britain. The study was carried out in 2 health districts in Wakayama Prefecture, Japan. Cases were men and women aged > or = 45 years listed for total hip arthroplasty due to OA over one year, and who did not have an established cause of secondary OA (e.g., rheumatoid arthritis, ankylosing spondylitis). For each case, a control was selected randomly from the general population and was individually matched to the case for age, sex, and district of residence. Cases and controls were interviewed with a structured questionnaire about medical history, physical activity, socioeconomic factors, and occupation. Measurements were made of height and weight. One hundred fourteen cases (103 women, 11 men) were compared with 114 controls. We found no relationship between obesity and hip OA (OR = 1.0, 95% CI 0.5-1.9; highest vs lowest thirds of distribution of body mass index). There was, however, a statistically significant association between occupational lifting and hip OA, such that regular lifting of 25 kg in the individual's first job (OR = 3.6, 95% CI 1.3-9.7) or of 50 kg in their main job (OR = 4.0, 95% CI 1.1-14.2) was associated with increased risk of hip OA. These associations remained after adjustment for potential confounding variables. In contrast, those subjects who spent > 2 h each day sitting during their first job were significantly less likely to have the disorder (crude OR = 0.5, 95% CI 0.3-0.9). This association also remained statistically significant after adjustment for potential risk

  18. Asymptotic stability of a genetic network under impulsive control

    International Nuclear Information System (INIS)

    Li Fangfei; Sun Jitao

    2010-01-01

    The study of the stability of genetic network is an important motif for the understanding of the living organism at both molecular and cellular levels. In this Letter, we provide a theoretical method for analyzing the asymptotic stability of a genetic network under impulsive control. And the sufficient conditions of its asymptotic stability under impulsive control are obtained. Finally, an example is given to illustrate the effectiveness of the obtained method.

  19. Risk factors for Parkinson’s disease may differ in men and women: An exploratory study

    OpenAIRE

    Savica, Rodolfo; Grossardt, Brandon R.; Bower, James H.; Ahlskog, J. Eric; Rocca, Walter A.

    2012-01-01

    Although several environmental and genetic risk or protective factors have been associated with Parkinson’s disease (PD), their interactions overall and in men and women separately remain unknown. We used the medical records-linkage system of the Rochester Epidemiology Project to identify 196 subjects who developed PD in Olmsted County, MN, from 1976 through 1995. Each incident case was matched by age (±1 year) and sex to a general population control. We considered the following 12 risk or pr...

  20. Thyrotropin receptor autoantibodies and early miscarriages in patients with Hashimoto thyroiditis: a case-control study.

    Science.gov (United States)

    Toulis, Konstantinos A; Goulis, Dimitrios G; Tsolakidou, Konstantina; Hilidis, Ilias; Fragkos, Marios; Polyzos, Stergios A; Gerofotis, Antonios; Kita, Marina; Bili, Helen; Vavilis, Dimitrios; Daniilidis, Michail; Tarlatzis, Basil C; Papadimas, Ioannis

    2013-08-01

    We have previously hypothesized that early miscarriage in women with Hashimoto thyroiditis might be the result of a cross-reactivity process, in which blocking autoantibodies against thyrotropin receptor (TSHr-Ab) antagonize hCG action on its receptor on the corpus luteum. To test this hypothesis from the clinical perspective, we investigated the presence of TSHr-Ab in Hashimoto thyroiditis patients with apparently unexplained, first-trimester recurrent miscarriages compared to that in Hashimoto thyroiditis patients with documented normal fertility. A total of 86 subjects (43 cases and 43 age-matched controls) were finally included in a case-control study. No difference in the prevalence of TSHr-Ab positivity was detected between cases and controls (Fisher's exact test, p value = 1.00). In patients with recurrent miscarriages, TSHr-Ab concentrations did not predict the number of miscarriages (univariate linear regression, p value = 0.08). These results were robust in sensitivity analyses, including only cases with full investigation or those with three or more miscarriages. We conclude that no role could be advocated for TSHr-Ab in the aetiology of recurrent miscarriages in women with Hashimoto thyroiditis.

  1. Parenteral exposure to pesticides and occurence of congenital malformations: hospital-based case-control study.

    Science.gov (United States)

    Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido

    2016-08-12

    Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to

  2. Genetic Polymorphisms in Vitamin D Metabolism and Signaling Genes and Risk of Breast Cancer: A Nested Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Tess V Clendenen

    Full Text Available Genetic polymorphisms in vitamin D metabolism and signaling genes have been inconsistently associated with risk of breast cancer, though few studies have examined SNPs in vitamin D-related genes other than the vitamin D receptor (VDR gene and particularly have not examined the association with the retinoid X receptor alpha (RXRA gene which may be a key vitamin D pathway gene. We conducted a nested case-control study of 734 cases and 1435 individually matched controls from a population-based prospective cohort study, the Northern Sweden Mammary Screening Cohort. Tag and functional SNPs were genotyped for the VDR, cytochrome p450 24A1 (CYP24A1, and RXRA genes. We also genotyped specific SNPs in four other genes related to vitamin D metabolism and signaling (GC/VDBP, CYP2R1, DHCR7, and CYP27B1. SNPs in the CYP2R1, DHCR7, and VDBP gene regions that were associated with circulating 25(OHD concentration in GWAS were also associated with plasma 25(OHD in our study (p-trend <0.005. After taking into account the false discovery rate, these SNPs were not significantly associated with breast cancer risk, nor were any of the other SNPs or haplotypes in VDR, RXRA, and CYP24A1. We observed no statistically significant associations between polymorphisms or haplotypes in key vitamin D-related genes and risk of breast cancer. These results, combined with the observation in this cohort and most other prospective studies of no association of circulating 25(OHD with breast cancer risk, do not support an association between vitamin D and breast cancer risk.

  3. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

    Science.gov (United States)

    Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

  4. Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium

    DEFF Research Database (Denmark)

    Phelan, Catherine M; Tsai, Ya-Yu; Goode, Ellen L

    2010-01-01

    Aberrant glycosylation is a well-described hallmark of cancer. In a previous ovarian cancer case control study that examined polymorphisms in 26 glycosylation-associated genes, we found strong statistical evidence (P = 0.00017) that women who inherited two copies of a single-nucleotide polymorphism...... sites but significant differences compared with the original study population (P = 0.03). This study underscores the need for replication of putative findings in genetic association studies....

  5. Women convicted of a sexual offence, including child pornography production: two case reports.

    Science.gov (United States)

    Prat, S; Bertsch, I; Chudzik, L; Réveillère, Ch

    2014-03-01

    All available studies addressing the clinical and legal aspects of child pornography have systematically concerned male abusers. The social lens through which women are viewed tends to play down their responsibility in the sexual abuse of children. Unlike men, women rarely abuse children outside the close or family circle. Furthermore, they have frequently been abused themselves in their childhood. To our knowledge, no cases of women charged with sex-related offences, including child pornography, have been described in the literature. The psychopathological characteristics of female sexual abusers and of the two women in our cases tend to suggest that the deliberate downloading of child pornography images by women is unusual, as their deviant behaviour is not related to paedophile sexual arousal It is hypothesized that the act enables women perpetrators to satisfy the sexual urges of their spouse. Sexual abuse by women exists, but the nature of the abuse appears to be specific to the gender of the perpetrator. We present two cases of women charged with sexual offences concerning minors, including the production of child pornography material. Copyright © 2014 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  6. Genetic algorithms for adaptive real-time control in space systems

    Science.gov (United States)

    Vanderzijp, J.; Choudry, A.

    1988-01-01

    Genetic Algorithms that are used for learning as one way to control the combinational explosion associated with the generation of new rules are discussed. The Genetic Algorithm approach tends to work best when it can be applied to a domain independent knowledge representation. Applications to real time control in space systems are discussed.

  7. Power for genetic association study of human longevity using the case-control design

    DEFF Research Database (Denmark)

    Tan, Qihua; Zhao, Jing Hua; Zhang, Dongfeng

    2008-01-01

    The efficiency of the popular case-control design in gene-longevity association studies needs to be verified because, different from a binary trait, longevity represents only the extreme end of the continuous life span distribution without a clear cutoff for defining the phenotype. In this paper...

  8. Genetic variations of MMP9 gene and intracerebral hemorrhage susceptibility: a case-control study in Chinese Han population.

    Science.gov (United States)

    Yang, Jie; Wu, Bo; Lin, Sen; Zhou, Junshan; Li, Yingbin; Dong, Wei; Arima, Hisatomi; Zhang, Chanfei; Liu, Yukai; Liu, Ming

    2014-06-15

    To investigate the association between genetic variations of matrix metalloproteinase 9 (MMP9) gene and intracerebral hemorrhage (ICH) susceptibility in Chinese Han population. The clinical data and peripheral blood samples from the patients with ICH and hypertension, and controlled subjects with hypertension only, were collected. MassARRAY Analyzer was used to genotype the tagger single nucleotide polymorphism (SNP) of MMP9 gene. Haploview4.2 and Unphased3.1.7 were employed to construct haplotypes and to analyze the association between genetic variations (alleles, genotypes and haplotypes) of MMP9 gene and ICH susceptibility. 181 patients with ICH and hypertension, and 197 patients with hypertension only, were recruited between Sep 2009 and Oct 2010. Patients in the ICH group were younger (61.80 ± 13.27 vs. 72.44 ± 12.71 years, ppopulation. Our logistical regression analysis showed that there were no significant associations between genetic variations of the MPP9 gene and ICH susceptibility (all p>0.05). The genetic variations of MMP9 gene were not significantly associated with ICH susceptibility in the Chinese Han population. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. [Postural control characteristics in elderly women with fallers].

    Science.gov (United States)

    Gudkov, A B; Dyomin, A V; Gribanov, A V

    Using computer posturografic (stabilometric) complex a study of postural control peculiarities was carried out in 108 women aged 65-74 years who had experienced two or more falls during the year (fallers). These tests were: Sensory Organization Test, Motor Control Test, Rhythmic Weight Shift. It was found that elderly women with fallers had a decrease of sensory information (somatosensory - by 1,8 %, of the visual - by 6 %, and of the vestibular - by 10,1 %), the neurophysiological mechanisms of postural control (by 5,7 points), violation of adaptation possibilities of sensory and motor components of the legs to respond quickly to changes in the center of gravity within the support base of its footing (7,3 ms), as well as reducing balance control in the frontal (by 7,2 %) and sagittal (by 23,2 % ) planes compared with the women of the same age without fallers.

  10. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.

    Science.gov (United States)

    Welt, Corrine K; Styrkarsdottir, Unnur; Ehrmann, David A; Thorleifsson, Gudmar; Arason, Gudmundur; Gudmundsson, Jens A; Ober, Carole; Rosenfield, Robert L; Saxena, Richa; Thorsteinsdottir, Unnur; Crowley, William F; Stefansson, Kari

    2012-07-01

    A genome-wide association study has identified three loci (five independent signals) that confer risk for polycystic ovary syndrome (PCOS) in Han Chinese women. Replication is necessary to determine whether the same variants confer risk for PCOS in women of European ancestry. The objective of the study was to test whether these PCOS risk variants in Han Chinese women confer risk for PCOS in women of European ancestry. This was a case-control study. The study was conducted at deCODE Genetics in Iceland and two academic medical centers in the United States. Cases were 376 Icelandic women and 565 and 203 women from Boston, MA, and Chicago, IL, respectively, all diagnosed with PCOS by the National Institutes of Health criteria. Controls were 16,947, 483, and 189 women not known to have PCOS from Iceland, Boston, and Chicago, respectively. There were no interventions. Main outcomes were allele frequencies for seven variants in PCOS cases and controls. Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs10986105[C], and rs10818854[A], were replicated in samples of European ancestry with odds ratio of 1.68 (P = 0.00033) and odds ratio of 1.53 (P = 0.0019), respectively. Other risk variants at 2p16.3 (rs13405728), 2p21 (rs12468394, rs12478601, and rs13429458), and 9q33.3 (rs2479106), or variants correlated with them, did not associate with PCOS. The same allele of rs10986105 that increased the risk of PCOS also increased the risk of hyperandrogenism in women without PCOS from Iceland and demonstrated a stronger risk for PCOS defined by the National Institutes of Health criteria than the Rotterdam criteria. We replicated one of the five Chinese PCOS association signals, represented by rs10986105 and rs10818854 on 9q33, in individuals of European ancestry. Examination of the subjects meeting at least one of the Rotterdam criteria for PCOS suggests that the variant may be involved in the hyperandrogenism and possibly the irregular menses of PCOS.

  11. From "fixing women" to "institutional transformation": An ADVANCE case study

    Science.gov (United States)

    Yennello, Sherry; Kaunas, Christine

    2015-12-01

    The United States' position in the global economy requires an influx of women into science, technology, engineering, and mathematics (STEM) fields in order to remain competitive. Despite this, the representation of women in STEM continues to be low. The National Science Foundation's ADVANCE Program addresses this issue by funding projects that aim to increase the representation of women in academic STEM fields through transformation of institutional structures that impede women's progress in academic STEM fields. This paper includes a case study of the Texas A&M University ADVANCE Program.

  12. Application of case teaching in genetics courses to students majoring in forestry.

    Science.gov (United States)

    Wang, Qin-Mei; Cui, Jian-Guo; Yu, Chang-Zhi; Zhang, Zhi; Wu, Yue-Liang; Zhang, Li-Jie; Lin, Mei

    2017-10-20

    Undergraduate students majoring in forestry generally reflect that genetics is one of the most difficult compul-sory courses, because the traditional teaching method is difficult to satisfy their needs. According to the theoretical charac-teristics of forestry and actual demands of the students, in the light of teaching and research experience in recent years, we adopted a series of typical genetic cases such as 'opening coffin to identify relatives', stem-throne of Lycium ruthenicum Murr, and magic powers in Harry Potter. Our practices revealed that the case teaching in genetics could train good personality traits, learning abilities and creativity of the students, stimulate their interests and initiatives in learning, and increase systematic learning.

  13. Lower Breast Cancer Risk among Women following the World Cancer Research Fund and American Institute for Cancer Research Lifestyle Recommendations: EpiGEICAM Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Adela Castelló

    Full Text Available According to the "World Cancer Research Fund" and the "American Institute of Cancer Research" (WCRF/AICR one in four cancer cases could be prevented through a healthy diet, weight control and physical activity.To explore the association between the WCRF/AICR recommendations and risk of breast cancer.During the period 2006 to 2011 we recruited 973 incident cases of breast cancer and 973 controls from 17 Spanish Regions. We constructed a score based on 9 of the WCRF/AICR recommendations for cancer prevention:: 1Maintain adequate body weight; 2Be physically active; 3Limit the intake of high density foods; 4Eat mostly plant foods; 5Limit the intake of animal foods; 6Limit alcohol intake; 7Limit salt and salt preserved food intake; 8Meet nutritional needs through diet; S1Breastfeed infants exclusively up to 6 months. We explored its association with BC by menopausal status and by intrinsic tumor subtypes (ER+/PR+ & HER2-; HER2+; ER&PR-&HER2- using conditional and multinomial logistic models respectively.Our results point to a linear association between the degree of noncompliance and breast cancer risk. Taking women who met 6 or more recommendations as reference, those meeting less than 3 showed a three-fold excess risk (OR=2.98(CI95%:1.59-5.59, especially for postmenopausal women (OR=3.60(CI95%:1.24;10.47 and ER+/PR+&HER2- (OR=3.60(CI95%:1.84;7.05 and HER2+ (OR=4.23(CI95%:1.66;10.78 tumors. Noncompliance of recommendations regarding the consumption of foods and drinks that promote weight gain in premenopausal women (OR=2.24(CI95%:1.18;4.28; p for interaction=0.014 and triple negative tumors (OR=2.93(CI95%:1.12-7.63; the intake of plant foods in postmenopausal women (OR=2.35(CI95%:1.24;4.44 and triple negative tumors (OR=3.48(CI95%:1.46-8.31; and the alcohol consumption in ER+/PR+&HER2- tumors (OR=1.52 (CI95%:1.06-2.19 showed the strongest associations.Breast cancer prevention might be possible by following the "World Cancer Research Fund" and the

  14. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    DEFF Research Database (Denmark)

    Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

    2010-01-01

    AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  15. Preimplantation genetic diagnosis for cystic fibrosis: a case report

    Science.gov (United States)

    Biazotti, Maria Cristina Santoro; Pinto, Walter; de Albuquerque, Maria Cecília Romano Maciel; Fujihara, Litsuko Shimabukuro; Suganuma, Cláudia Haru; Reigota, Renata Bednar; Bertuzzo, Carmen Sílvia

    2015-01-01

    Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby. PMID:25993078

  16. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  17. Genetically Predicted Body Mass Index and Breast Cancer Risk : Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

    NARCIS (Netherlands)

    Guo, Yan; Warren Andersen, Shaneda; Shu, Xiao-Ou; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Garcia-Closas, Montserrat; Milne, Roger L; Schmidt, Marjanka K; Chang-Claude, Jenny; Dunning, Allison; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Bogdanova, Natalia V; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; Jenkins, Mark; John, Esther M; Johnson, Nichola; Jones, Michael E; Kabisch, Maria; Kibriya, Muhammad; Knight, Julia A; Koppert, Linetta B; Kosma, Veli-Matti; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Luben, Robert; Lubinski, Jan; Malone, Kathi E; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perez, Jose I A; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shrubsole, Martha J; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Whittemore, Alice S; Winqvist, Robert; Zhao, Hui; Zhao, Shilin; Hall, Per; Simard, Jacques; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or

  18. Dyslipidaemia in woman with polycystic ovarian syndrome: A case control study in tertiary care hospital of Karachi

    International Nuclear Information System (INIS)

    Hussain, A.; Alam, J. M.

    2014-01-01

    Objective: To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. Method: The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight.. SPSS 14 was used for statistical analysis. Result: The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p < 0.05), while high-density lipoprotein cholesterol was significantly low in patients than the controls (p <0.001). Obese patients had high triglyceride value (p < 0.05). There was significant interaction between polycystic ovary syndrome, obesity and triglyceride levels (p < 0.05). Conclusion: Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia. (author)

  19. Independent Senior Women Who Travel Internationally: A Collective Case Study

    Science.gov (United States)

    Jarrett, Barbara

    2010-01-01

    Nine independent women over age 55 who traveled internationally were investigated through a qualitative case study. The purpose of the study was to explore the women's attitudes, actions, and motivations during and after their international travel experiences. The adult, aging, experiential, and transformational theories of researchers such as…

  20. The genetic validation of heterogeneity in schizophrenia

    Directory of Open Access Journals (Sweden)

    Moritani Makiko

    2011-10-01

    Full Text Available Abstract Introduction Schizophrenia is a heritable disorder, however clear genetic architecture has not been detected. To overcome this state of uncertainty, the SZGene database has been established by including all published case-control genetic association studies appearing in peer-reviewed journals. In the current study, we aimed to determine if genetic variants strongly suggested by SZGene are associated with risk of schizophrenia in our case-control samples of Japanese ancestry. In addition, by employing the additive model for aggregating the effect of seven variants, we aimed to verify the genetic heterogeneity of schizophrenia diagnosed by an operative diagnostic manual, the DSM-IV. Methods Each positively suggested genetic polymorphism was ranked according to its p-value, then the seven top-ranked variants (p Results No statistically significant deviation between cases and controls was observed in the genetic risk-index derived from all seven variants on the top-ranked polymorphisms. In fact, the average risk-index score in the schizophrenia group (6.5+/-1.57 was slightly lower than among controls (6.6+/-1.39. Conclusion The current work illustrates the difficulty in identifying universal and definitive risk-conferring polymorphisms for schizophrenia. Our employed number of samples was small, so we can not preclude the possibility that some or all of these variants are minor risk factors for schizophrenia in the Japanese population. It is also important to aggregate the updated positive variants in the SZGene database when the replication work is conducted.

  1. The Case for Women Mentoring Women

    Science.gov (United States)

    Block, Betty Ann; Tietjen-Smith, Tara

    2016-01-01

    The authors argue that there will be a critical mass of women in leadership positions in kinesiology and across higher education for substantial gender-based mentoring to take place in the 21st century. First, the current state of women in higher education leadership, trends in mentoring, and the reasons it is important for women who have…

  2. Helicobacter pylori infection amongst Arab Israeli women with hyperemesis gravidarum--a prospective, controlled study.

    Science.gov (United States)

    Boltin, Doron; Perets, Tsachi Tsadok; Elheiga, Sami Abu; Sharony, Asher; Niv, Yaron; Shamaly, Hussein; Dickman, Ram

    2014-12-01

    Helicobacter pylori has been associated with hyperemesis gravidarum in some geographical regions. The prevalence of H. pylori in Arab Israeli women in the Upper Galilee and its association with hyperemesis gravidarum has not been studied previously. We aimed to examine if hyperemesis gravidarum is associated with H. pylori in this population. Subjects with hyperemesis gravidarum carrying a singleton fetus were recruited prospectively. Women with an uncomplicated pregnancy served as controls. All patients underwent (13)C-urea breath testing to assess for H. pylori infection. A total of 72 subjects, including 24 patients with hyperemesis gravidarum and 48 controls, aged 28.8±5.3 years, were included. H. pylori infection was identified in 75.0% (18/24) of cases and 60.4% (29/48) of controls (p=not significant). H. pylori infection did not correlate with age, fetal sex, or the number of previous pregnancies (p=not significant). H. pylori does not seem to increase the likelihood of hyperemesis gravidarum in Arab Israeli women. However, given the high background prevalence of H. pylori in this population, a larger study is required to corroborate these findings. (MOH20110066). Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  3. A Bayesian Stepwise Discriminant Model for Predicting Risk Factors of Preterm Premature Rupture of Membranes: A Case-control Study.

    Science.gov (United States)

    Zhang, Li-Xia; Sun, Yang; Zhao, Hai; Zhu, Na; Sun, Xing-De; Jin, Xing; Zou, Ai-Min; Mi, Yang; Xu, Ji-Ru

    2017-10-20

    Preterm premature rupture of membrane (PPROM) can lead to serious consequences such as intrauterine infection, prolapse of the umbilical cord, and neonatal respiratory distress syndrome. Genital infection is a very important risk which closely related with PPROM. The preliminary study only made qualitative research on genital infection, but there was no deep and clear judgment about the effects of pathogenic bacteria. This study was to analyze the association of infections with PPROM in pregnant women in Shaanxi, China, and to establish Bayesian stepwise discriminant analysis to predict the incidence of PPROM. In training group, the 112 pregnant women with PPROM were enrolled in the case subgroup, and 108 normal pregnant women in the control subgroup using an unmatched case-control method. The sociodemographic characteristics of these participants were collected by face-to-face interviews. Vaginal excretions from each participant were sampled at 28-36+6 weeks of pregnancy using a sterile swab. DNA corresponding to Chlamydia trachomatis (CT), Ureaplasma urealyticum (UU), Candida albicans, group B streptococci (GBS), herpes simplex virus-1 (HSV-1), and HSV-2 were detected in each participant by real-time polymerase chain reaction. A model of Bayesian discriminant analysis was established and then verified by a multicenter validation group that included 500 participants in the case subgroup and 500 participants in the control subgroup from five different hospitals in the Shaanxi province, respectively. The sociological characteristics were not significantly different between the case and control subgroups in both training and validation groups (all P > 0.05). In training group, the infection rates of UU (11.6% vs. 3.7%), CT (17.0% vs. 5.6%), and GBS (22.3% vs. 6.5%) showed statistically different between the case and control subgroups (all P case and control subgroups (P case and control subgroup were 84.1% and 86.8% in the training and validation groups, respectively

  4. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

    Directory of Open Access Journals (Sweden)

    Giovanni Monni

    2018-02-01

    Full Text Available The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy. It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder.

  5. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.

    Science.gov (United States)

    Monni, Giovanni; Peddes, Cristina; Iuculano, Ambra; Ibba, Rosa Maria

    2018-02-20

    The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP) in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD) was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder.

  6. Maternal and perinatal outcomes after bariatric surgery: a case control study.

    Science.gov (United States)

    de Alencar Costa, Laura Arrais Sydrião; Araujo Júnior, Edward; de Lucena Feitosa, Francisco Edson; Dos Santos, Andréa Cavalcante; Moura Júnior, Luiz Gonzaga; Costa Carvalho, Francisco Herlânio

    2016-05-01

    To compare the results of maternal and perinatal pregnancies of obese women after bariatric surgery. A retrospective cross-sectional study was carried out on 63 women who had undergone bariatric surgery and 73 obese women (control). Demographic data, the characteristics of the bariatric surgery, and the maternal and perinatal results were evaluated. The Student's t-test and chi-square test (χ2) were used to compare the groups. The gestational complications of the prevalence of gestational diabetes mellitus, anemia, and preeclampsia were analyzed using simple and multivariate logistical regression and odd ratios (OD) with their respective confidence intervals (CI) of 95%. The average body mass index (BMI) at the 1st prenatal appointment of the control group was 34.6±3.3 kg/m2 and that of the post-surgical group was 26.5±4.2 kg/m2. The Roux-en-Y Gastric Bypass was used in 100% of cases; no complications were observed during or after the surgeries. The average weight loss in patients with a prior bariatric surgery was statistically significant (P=0.000). The average weight at birth of the control group was significantly higher than in the post-bariatric surgery group (P=0.017). The women who had a prior bariatric surgery had a higher chance of anemia (OR=3.5; CI 95%: 1.5-8.3) and a reduced chance of macrosomia (OR=0.2; CI 95%:0.1-0.5), and prematurity (OR=0.3; CI 95%:0.1-0.7). Those women who had been submitted to bariatric surgery presented better maternal and perinatal results when compared to obese women.

  7. The genetic validation of heterogeneity in schizophrenia.

    Science.gov (United States)

    Tsutsumi, Atsushi; Glatt, Stephen J; Kanazawa, Tetsufumi; Kawashige, Seiya; Uenishi, Hiroyuki; Hokyo, Akira; Kaneko, Takao; Moritani, Makiko; Kikuyama, Hiroki; Koh, Jun; Matsumura, Hitoshi; Yoneda, Hiroshi

    2011-10-07

    Schizophrenia is a heritable disorder, however clear genetic architecture has not been detected. To overcome this state of uncertainty, the SZGene database has been established by including all published case-control genetic association studies appearing in peer-reviewed journals. In the current study, we aimed to determine if genetic variants strongly suggested by SZGene are associated with risk of schizophrenia in our case-control samples of Japanese ancestry. In addition, by employing the additive model for aggregating the effect of seven variants, we aimed to verify the genetic heterogeneity of schizophrenia diagnosed by an operative diagnostic manual, the DSM-IV. Each positively suggested genetic polymorphism was ranked according to its p-value, then the seven top-ranked variants (p Japanese population. It is also important to aggregate the updated positive variants in the SZGene database when the replication work is conducted.

  8. Combinations of SNP genotypes from the Wellcome Trust Case Control Study of bipolar patients

    DEFF Research Database (Denmark)

    Mellerup, Erling; Jørgensen, Martin Balslev; Dam, Henrik

    2018-01-01

    Objectives: Combinations of genetic variants are the basis for polygenic disorders. We examined combinations of SNP genotypes taken from the 446 729 SNPs in The Wellcome Trust Case Control Study of bipolar patients. Methods: Parallel computing by graphics processing units, cloud computing, and data...

  9. Using imputed genotype data in the joint score tests for genetic association and gene-environment interactions in case-control studies.

    Science.gov (United States)

    Song, Minsun; Wheeler, William; Caporaso, Neil E; Landi, Maria Teresa; Chatterjee, Nilanjan

    2018-03-01

    Genome-wide association studies (GWAS) are now routinely imputed for untyped single nucleotide polymorphisms (SNPs) based on various powerful statistical algorithms for imputation trained on reference datasets. The use of predicted allele counts for imputed SNPs as the dosage variable is known to produce valid score test for genetic association. In this paper, we investigate how to best handle imputed SNPs in various modern complex tests for genetic associations incorporating gene-environment interactions. We focus on case-control association studies where inference for an underlying logistic regression model can be performed using alternative methods that rely on varying degree on an assumption of gene-environment independence in the underlying population. As increasingly large-scale GWAS are being performed through consortia effort where it is preferable to share only summary-level information across studies, we also describe simple mechanisms for implementing score tests based on standard meta-analysis of "one-step" maximum-likelihood estimates across studies. Applications of the methods in simulation studies and a dataset from GWAS of lung cancer illustrate ability of the proposed methods to maintain type-I error rates for the underlying testing procedures. For analysis of imputed SNPs, similar to typed SNPs, the retrospective methods can lead to considerable efficiency gain for modeling of gene-environment interactions under the assumption of gene-environment independence. Methods are made available for public use through CGEN R software package. © 2017 WILEY PERIODICALS, INC.

  10. A case-control study of risk factors for epithelial ovarian cancer

    Directory of Open Access Journals (Sweden)

    Ghaem Maghami Noori F

    2001-09-01

    Full Text Available Ovarian cancer is second prevalent cancer among gynecologic malignancies and the most common type of ovarian cancer is epithelial form (85-90 percent. To detect the risk factors for the epithelial ovarian cancer, a case-control study was conducted in Valieasr hospital in 1988. In this study, 118 cases with epithelial ovarian cancer (according histological records and 240 controls without any gynecological cancer in gynecologic clinic had been interviewed. For data analysis, T-test, Chi2 test and logistic regression have been used at a =0.05 as level of significance. The mean age in cases was 50±13 and in controls was 49.9±12 years, without significant different. The mean number of pregnancies and parity in cases was less than controls, significantly (P<0.03. The mean months of breast feeding in cases was less than controls (54.9±71.2 versus 82.4±62.7 (P<0.001. The cases had a lower mean age of menarch than controls (P=0.03. 58 percent of cases and 21.3 percent of controls hadn't used any contraception methods (P=0.00001. The mean years of contraception was significantly less in cases versus controls (P<0.001. The odds ratio for epithelial ovarian cancer was 0.24 (95 percent CI: 0.13-0.48 in OCP users, 0.47 (95 percent CI: 0.005-0.43 in TL method, and was 0.41 (95 percent CI: 0.22-0.76 in other contraception methods, relative to women who hadn't used any contraception methods. This study reveals that epithelial ovarian cancer risk increases significantly with earlier menarch, decreasing number of pregnancy, deliveries duration of breast feeding and use of contraception methods. Use of contraception pill and tubal ligation method decreases risk of epithelial ovarian cancer.

  11. Health Locus of Control in Indonesian Women with Breast Cancer: a Comparison with Healthy Women

    NARCIS (Netherlands)

    Iskandarsyah, A.; de Klerk, C.; Suardi, D.R.; Sadarjoen, S.S.; Passchier, J.

    2014-01-01

    The aims of this study were to assess whether Indonesian women with breast cancer havea higher external health locus of control (HLC) than healthy women, and to explore the association between HLC and symptoms of anxiety and depression. In this study, 120 consecutive women with breast cancer were

  12. Atopy and new-onset asthma in young Danish farmers and CD14, TLR2, and TLR4 genetic polymorphisms: a nested case-control study

    DEFF Research Database (Denmark)

    Smit, L A M; Bongers, S I M; Ruven, H J T

    2007-01-01

    BACKGROUND: Evidence exists that exposure to high levels of microbial agents such as endotoxin in the farm environment decreases the risk of atopic sensitization. Genetic variation in innate immunity genes may modulate the response to microbial agents and thus influence susceptibility to asthma...... and atopy. OBJECTIVE: To study potential associations between single nucleotide polymorphisms (SNPs) in CD14, Toll-like receptor 2 (TLR2), and TLR4 genes, and atopy and new-onset asthma in young farmers. METHODS: A nested case-control study was conducted within a cohort of 1901 young Danish farmers. We....../-651 promoter polymorphisms are associated with atopy prevalence among young adults exposed to farm environments. Udgivelsesdato: 2007-Nov...

  13. Placental peptides metabolism and maternal factors as predictors of risk of gestational diabetes in pregnant women. A case-control study.

    Science.gov (United States)

    Ngala, Robert Amadu; Fondjo, Linda Ahenkorah; Gmagna, Peter; Ghartey, Frank Naku; Awe, Martin Akilla

    2017-01-01

    Gestational diabetes is a risk factor for perinatal complications; include shoulder dystocia, birth injuries such as bone fractures and nerve palsies. It is associated with later development of type 2 diabetes, the risk of macrosomia and other long-term health effects of infants born to diabetic mothers. The study assesses placental peptides and maternal factors as potential predictors of gestational diabetes among pregnant women. A total of 200 pregnant women were recruited for the study, 150 pregnant women without pre gestational diabetes including 50 women with low risk factors of diabetes as controls and 50 other pregnant women with pregestational diabetes as control. Fasting blood glucose and the lipid profile were determined by enzymatic methods using Envoy® 500 reagents (Vital Diagnostics, USA). Glycated haemoglobin was assessed using the Cation Exchange resin method. Leptin and the Human Placenta Lactogen were assayed using the Sandwich-ELISA technique. Beta chorionic gonadotrophin, insulin, progesterone and estradiol were determined using chemilumiscence imunoassay technique on MAGLUMI 600 analyzer. Anthropometry, including BMI and blood pressure were also measured. Fasting plasma glucose (FBG), insulin, insulin resistance, glycated haemoglobin and Human Placenta Lactogen(HPL)were significantly (p0.05) in estradiol, insulin, insulin resistance and HPL between the pregnant women who developed gestational diabetes and those who did not. Leptin, progesterone and FBG were significantly increased in those who developed GDM. The risk of developing gestational diabetes increased with overweight (OR = 1.76, P = 0.370) and family history of diabetes (OR = 2.18, P = 0.282). Leptin, progesterone, estradiol estimated in this study were increased in the gestational diabetes mellitus women and fairly predicted gestational diabetes in the non-diabetics pregnant women. Obesity, aging and family history of diabetes were strongly predictive of gestational diabetes.

  14. Determinants of repeated abortion among women of reproductive age attending health facilities in Northern Ethiopia: a case–control study

    Directory of Open Access Journals (Sweden)

    Mussie Alemayehu

    2017-02-01

    Full Text Available Abstract Background Every year, an estimated 19–20 million unsafe abortions take place, almost all in developing countries, leading to 68,000 deaths and millions more injured many permanently. Many women throughout the world, experience more than one abortion in their lifetimes. Repeat abortion is an indicator of the larger problem of unintended pregnancy. This study aimed to identify determinants of repeat abortion in Tigray Region, Ethiopia. Methods Unmatched case–control study was conducted in hospitals in Tigray Region, northern Ethiopia, from November 2014 to June 2015. The sample included 105 cases and 204 controls, recruited from among women seeking abortion care at public hospitals. Clients having two or more abortions (“repeat abortion” were taken as cases and those who had a total of one abortion were taken as controls (“single abortion”. Cases were selected consecutive based on proportional to size allocation while systematic sampling was employed for controls. Data were analyzed using SPSS version 20.0. Binary and multiple variable logistic regression analyses were calculated with 95% CI. Results Mean age of cases was 24 years (±6.85 and 22 years (±6.25 for controls. 79.0% of cases had their sexual debut in less than 18 years of age compared to 57% of controls. 42.2% of controls and 23.8% of cases cited rape as the reason for having an abortion. Study participants who did not understand their fertility cycle and when they were most likely to conceive after menstruation (adjusted odds ratio [AOR] = 2.0, 95% confidence interval [CI]: 1.1–3.7, having a previous abortion using medication (AOR = 3.3, CI: 1.83, 6.11, having multiple sexual partners in the preceding 12 months (AOR = 4.4, CI: 2.39,8.45, perceiving that the abortion procedure is not painful (AOR = 2.3, CI: 1.31,4.26, initiating sexual intercourse before the age of 18 years (AOR = 2.7, CI: 1.49, 5.23 and disclosure to a third

  15. Association of leptin and insulin resistance in PCOS: A case-controlled study.

    Science.gov (United States)

    Namavar Jahromi, Bahia; Dabaghmanesh, Mohammad Hassan; Parsanezhad, Mohammad Ebrahim; Fatehpoor, Faranak

    2017-07-01

    Endocrine abnormalities related to polycystic ovary Syndrome (PCOS) are important problems. To compare serum leptin levels between infertile women with and without PCOS. To rank sensitivity of six indirect methods for detection of insulin resistance (IR) and to evaluate the association between leptin and IR in PCOS group. This Case-controlled study performed on 189 infertile women referred to Shiraz Mother and Child Hospital during 2012-2015. Ninety-nine PCOS cases according to Rotterdam criteria were compared to 90 cases without PCOS. Serum leptin, body mass index (BMI), several hormones, and their correlation coefficients with leptin were compared. IR in PCOS women was measured by indirect methods, including fasting blood sugar (FBS), fasting insulin (FI), glucose/insulin, homeostatic model assessment of insulin resistance (HOMA-IR), quantitative insulin sensitivity check index (QUICKI), and MacAuley index. Association between IR and leptin was evaluated. Independent sample t-test and Pearson's test were used. Infertile women with PCOS had higher BMI (26.47±3.62 vs. 24.82±5.18 kg/m 2 ) and serum leptin levels (41.79±187.89 vs. 19.38±12.57 ng/mL). Leptin showed significant association with weight and BMI in both groups (pPCOS group. HOMA-IR showed the highest rate of IR followed by FI and QUICKI methods. The mean leptin levels had positive association with IR assessed by HOMA-IR (pPCOS infertile women. HOMA-IR followed by FI and QUICKI is the most sensitive test for detection of IR.

  16. Genetic risk scores for body fat distribution attenuate weight loss in women during dietary intervention

    DEFF Research Database (Denmark)

    Svendstrup, M; Allin, K H; Sørensen, T I A

    2018-01-01

    to lose weight. We aimed to study the effect of weighted genetic risk scores (GRSs) on weight loss based on single-nucleotide polymorphisms (SNPs) associated with waist-hip-ratio adjusted for body mass index (WHRadjBMI). METHOD: We included 707 participants (533 women and 174 men) from the NUGENOB multi......-center 10 week diet intervention study with weekly weight measurements. We created 3 GRSs, one including all reported WHRadjBMI SNPs (GRStotal), one including only SNPs with genome wide significance in women or with significantly greater effect in women (GRSwomen), and one excluding SNPs in the GRSwomen...... (GRSmen). The data was analyzed in a mixed linear model framework. RESULTS: The GRStotal and GRSwomen attenuated weight loss in women. The effect was strongest for the GRSwomen with an effect of 2.21 g/risk allele/day [95% CI (0.90;3.52), P=0.0009]. Adjustment for WHR, basal metabolic rate or diet...

  17. Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.

    Science.gov (United States)

    Lima, Aline Dt; Alves, Vanessa R; Rocha, Andressa R; Martinhago, Ana C; Martinhago, Ciro; Donadio, Nilka; Dzik, Artur; Cavagna, Mario; Gebrim, Luiz H

    2018-03-01

    Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.

  18. Functional Fitness and Self-Reported Quality of Life of Older Women Diagnosed with Knee Osteoarthrosis: A Cross-Sectional Case Control Study

    Directory of Open Access Journals (Sweden)

    Paula Andréa Malveira Cavalcante

    2015-01-01

    Full Text Available Aim. Utilizing a cross-sectional case control design, the aim of this study was to evaluate the functional fitness and self-reported quality of life differences in older people diagnosed with knee osteoarthrosis (O who participated in health promotion groups. Methods. Ninety older women were distributed into two groups: control without O of the knee (C, n=40 and a group diagnosed with primary and secondary knee O with grade II or higher, with definite osteophytes (OA, n=50. Functional fitness was evaluated by specific tests, and the time spent in physical activity and quality of life was evaluated by the IPAQ and WHOQOL (distributed in four domains: physical: P, psychological: PS, social: S, and environmental: E domain questionnaires. Results. No differences were found between ages of groups (C: 66±7; OA: 67±9; years. The values of the chair stand test (rep in the OA (13±5 group were different when compared to C group (22±5. For the 6-minute walk test (meters, the values obtained for the C (635±142 were higher (P<0.01 than the OA (297±143 group. The time spent in physical activity (min was greater (P<0.001 in the control (220±12 group compared to OA (100±10 group. Higher values (P<0.001 in all domains were found in the C (P: 69±16, PS: 72±17, S: 67±15, E: 70±15 group compared to OA (P: 48±7, PS: 43±8, S: 53±13, E: 47±14 group. Conclusion. Our data suggests that knee O, in older women, can promote a decline in time spent performing physical activity and functional fitness with decline in quality of life with an increase in sitting time.

  19. Issues concerning the use of hormone replacement therapy and risk of fracture: a population-based, nested case-control study.

    Science.gov (United States)

    Corrao, Giovanni; Zambon, Antonella; Nicotra, Federica; Conti, Valentino; Nappi, Rossella E; Merlino, Luca

    2008-01-01

    To investigate the effect of duration, how recently it has been used, and age at start of hormone replacement therapy (HRT) and the risk of bone fracture. A population-based, nested case-control study was conducted in Lombardia, Northern Italy. The 78,294 women aged 45-75 years who received at least one HRT prescription during 1998-2000 were followed until 2005. Cases were women who experienced bone fracture during follow-up. Up to six controls were randomly selected for each case from the cohort after matching for age and date of cohort entry. The odds ratio of fracture associated with the use of HRT was estimated by conditional logistic regression. One thousand one hundred and seventy-four cases and 6760 controls were included. Compared with women who took HRT for less than 2 months, those who were treated for more than 20 months had an odds ratio (OR) of 0.80 (95% confidence interval 0.65, 0.99). This risk reduction was still significant among current HRT users (OR 0.71, 95% CI 0.55, 0.90) and in women who began therapy at the age of 55-65 years (OR 0.63, 95% CI 0.42, 0.94) or 65-75 years (OR 0.56, 95% CI 0.32, 0.99). There was no statistical evidence of a protective effect for women who had stopped treatment more than 6 months previously or those who began HRT at the age of 45-55 years. HRT should be continued for long periods to achieve an optimal protection from fracture. The fracture reducing potential of HRT seems to disappear after a few months without treatment and might mainly act in women who begin therapy at older age.

  20. Homocyst(e)ine and risk of cerebral infarction in a biracial population : the stroke prevention in young women study.

    Science.gov (United States)

    Kittner, S J; Giles, W H; Macko, R F; Hebel, J R; Wozniak, M A; Wityk, R J; Stolley, P D; Stern, B J; Sloan, M A; Sherwin, R; Price, T R; McCarter, R J; Johnson, C J; Earley, C J; Buchholz, D W; Malinow, M R

    1999-08-01

    Genetic enzyme variation and vitamin intake are important determinants of blood homocyst(e)ine levels. The prevalence of common genetic polymorphisms influencing homocyst(e)ine levels varies by race, and vitamin intake varies by socioeconomic status. Therefore, we examined the effect of vitamin intake, race, and socioeconomic status on the association of homocyst(e)ine with stroke risk. All 59 hospitals in the greater Baltimore-Washington area participated in a population-based case-control study of stroke in young women. One hundred sixty-seven cases of first ischemic stroke among women aged 15 to 44 years were compared with 328 controls identified by random-digit dialing from the same region. Risk factor data were collected by standardized interview and nonfasting phlebotomy. Plasma homocyst(e)ine was measured by high-performance liquid chromatography and electrochemical detection. Blacks and whites did not differ in median homocyst(e)ine levels, nor did race modify the association between homocyst(e)ine and stroke. After adjustment for cigarettes per day, poverty status, and regular vitamin use, a plasma homocyst(e)ine level of >/=7.3 micromol/L was associated with an odds ratio for stroke of 1.6 (95% CI, 1.1 to 2.5). The association between elevated homocyst(e)ine and stroke was independent not only of traditional vascular risk factors but also of vitamin use and poverty status. The degree of homocyst(e)ine elevation associated with an increased stroke risk in young women is lower than that previously reported for middle-aged men and the elderly and was highly prevalent, being present in one third of the control group.

  1. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

    Science.gov (United States)

    Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

    2013-04-01

    In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

  2. Quantifying the economic benefits of prevention in a healthcare setting with severe financial constraints: the case of hypertension control.

    Science.gov (United States)

    Athanasakis, Kostas; Kyriopoulos, Ilias-Ioannis; Boubouchairopoulou, Nadia; Stergiou, George S; Kyriopoulos, John

    2015-01-01

    Hypertension significantly contributes to the increased cardiovascular morbidity and mortality, thus leading to rising healthcare costs. The objective of this study was to quantify the clinical and economic benefits of optimal systolic blood pressure (SBP), in a setting under severe financial constraints, as in the case of Greece. Hence, a Markov model projecting 10-year outcomes and costs was adopted, in order to compare two scenarios. The first one depicted the "current setting", where all hypertensives in Greece presented an average SBP of 164 mmHg, while the second scenario namely "optimal SBP control" represented a hypothesis in which the whole population of hypertensives would achieve optimal SBP (i.e. perspective (discounted at a 3% annual rate). Findings showed that compared to the "current setting", universal "optimal SBP control" could, within a 10-year period, reduce the occurrence of non-fatal events and deaths, by 80 and 61 cases/1000 male smokers; 59 and 37 cases/1000 men non-smokers; whereas the respective figures for women were 69 and 57 cases/1000 women smokers; and accordingly, 52 and 28 cases/1000 women non-smokers. Considering health expenditures, they could be reduced by approximately €83 million per year. Therefore, prevention of cardiovascular events through BP control could result in reduced morbidity, thereby in substantial cost savings. Based on clinical and economic outcomes, interventions that promote BP control should be a health policy priority.

  3. Effects of Health Insurance Interruption on Loss of Hypertension Control in Women With and Women Without HIV.

    Science.gov (United States)

    Edmonds, Andrew; Ludema, Christina; Eron, Joseph J; Cole, Stephen R; Adedimeji, Adebola A; Cohen, Mardge H; Cooper, Hannah L; Fischl, Margaret; Johnson, Mallory O; Krause, Denise D; Merenstein, Dan; Milam, Joel; Wilson, Tracey E; Adimora, Adaora A

    2017-12-01

    Among low-income women with and without HIV, it is a priority to reduce age-related comorbidities, including hypertension and its sequelae. Because consistent health insurance access has been identified as an important factor in controlling many chronic diseases, we estimated the effects of coverage interruption on loss of hypertension control in a cohort of women in the United States. We analyzed prospective, longitudinal data from the Women's Interagency HIV Study. HIV-infected and HIV-uninfected women were included between 2005 and 2014 when they reported health insurance at consecutive biannual visits and had controlled hypertension, and were followed for any insurance break and loss of hypertension control. We estimated hazard ratios (HRs) by Cox proportional hazards regression with inverse-probability-of-treatment-and censoring weights (marginal structural models), and plotted the cumulative incidence of hypertension control loss. Among 890 HIV-infected women, the weighted HR for hypertension control loss comparing health insurance interruption to uninterrupted coverage was 1.37 (95% confidence interval [CI], 0.99-1.91). Inclusion of AIDS Drug Assistance Program (ADAP) participation with health insurance modestly increased the HR (1.47; 95% CI, 1.04-2.07). Analysis of 272 HIV-uninfected women yielded a similar HR (1.39; 95% CI, 0.88-2.21). Additionally, there were indications of uninterrupted coverage having a protective effect on hypertension when compared with the natural course in HIV-infected (HR, 0.82; 95% CI, 0.61-1.11) and HIV-uninfected (HR, 0.78; 95% CI, 0.52-1.19) women. This study provides evidence that health insurance continuity promotes hypertension control in key populations. Interventions that ensure coverage stability and ADAP access should be a policy priority.

  4. Contraceptive attitudes and contraceptive failure among women requesting induced abortion in Denmark

    DEFF Research Database (Denmark)

    Rasch, Vibeke; Knudsen, Lisbeth B.; Gammeltoft, Tine

    2007-01-01

    Objective: To elucidate how contraceptive attitudes among Danish-born and immigrant women influence the request of induced abortion. Method: A case-control study, the case group comprising 1,095 Danish-born women and 233 immigrant women requesting abortion, in comparison with a control group of 1...

  5. An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case-case-control study.

    Science.gov (United States)

    Amarin, Justin Z; Naffa, Randa G; Suradi, Haya H; Alsaket, Yousof M; Obeidat, Nathir M; Mahafza, Tareq M; Zihlif, Malek A

    2017-11-15

    Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study is to assess the association of rs13217795, an intronic FOXO3 single-nucleotide polymorphism, with asthma and allergic rhinitis. In this case-case-control genetic association study, genotyping was conducted using the PCR-RFLP method. Genotype-based associations were investigated under the general, recessive, and dominant models of disease penetrance using binomial logistic regression; and, allele-based associations were tested using Pearson's chi-squared test. The final study population consisted of 94 controls, 124 asthmatics, and 110 allergic rhinitis patients. The general and recessive models of disease penetrance were statistically significant for both case-control comparisons. Under the general model, the odds of the asthma phenotype were 1.46 (0.64 to 3.34) and 3.42 (1.37 to 8.57) times higher in heterozygotes and derived allele homozygotes, respectively, compared to ancestral allele homozygotes. The corresponding odds ratios for the allergic rhinitis phenotype were 1.05 (0.46 to 2.40) and 2.35 (0.96 to 5.73), respectively. The dominant model of disease penetrance was not statistically significant. The minor allele in all study groups was the ancestral allele, with a frequency of 0.49 in controls. There was no deviation from Hardy-Weinberg equilibrium in controls. Both case-control allele-based associations were statistically significant. Herein we present the first report of the association between rs13217795 and allergic rhinitis, and the first independent verification of the association between rs13217795 and asthma. Marker selection in future genetic association studies of asthma and allergic rhinitis should include functional polymorphisms in linkage disequilibrium with rs13217795.

  6. Cardiovascular Control in Men and Women

    Science.gov (United States)

    Fu, Qi

    Women, primarily young women, have a greater incidence of orthostatic intolerance than agematched men. This difference is especially dramatic in the Postural Orthostatic Tachycardia Syndrome (POTS, also called Chronic Orthostatic Intolerance, in which patients are unable to stand or remain upright for prolonged periods of time due to intolerable light headedness, weakness, and near-syncope). However, the mechanisms underlying this gender difference are still not completely understood. It is likely that certain gender-specific factors such as the normal menstrual cycle, differences in some hormonal levels which may affect the neurohumoral regulation of blood pressure, or physical characteristics such as a smaller and less "distensible" heart may influence orthostatic blood pressure control. The authors review what has been done on the effects of gender and the menstrual cycle on sympathetic neural control of hemodynamics during shortand long-term orthostasis in healthy young individuals and in female patients with POTS. In addition, the role of cardiac size and function, a non-neural mechanism, in gender differences in orthostatic tolerance is also reviewed. It is suggested that sympathetic neural control and vasoconstrictor responses during orthostasis are comparable between healthy men and women, and are enhanced but not impaired in POTS patients. There is a gender-specific difference in cardiac size even in the healthy population, while this difference is exaggerated in female patients with POTS.

  7. TID and I-TD controller design for magnetic levitation system using genetic algorithm

    Directory of Open Access Journals (Sweden)

    Debdoot Sain

    2016-09-01

    Full Text Available This article is about the design of controllers for magnetic levitation (Maglev system in both simulation and real time. Local linearization around the equilibrium point has been done for the nonlinear Maglev system to obtain a linearized model transfer function. In this study, the design of integral-tilted-derivative (I-TD controller has been proposed for the Maglev system and its performance is compared with conventional tilted-integral-derivative (TID controller. In this study, TID controller parameters have been optimized through genetic algorithm (GA and those set of values have been employed for the design of I-TD controller. A performance comparison between TID and I-TD controller is then investigated. The analysis shows the superiority of I-TD controller over TID controller in terms of maximum overshoot, gain margin and phase margin. The settling time remains almost same in both the cases. In future, a detailed study of robustness in presence of model uncertainties will be incorporated as a scope of further research.

  8. Genetic control of organ shape and tissue polarity.

    Directory of Open Access Journals (Sweden)

    Amelia A Green

    2010-11-01

    Full Text Available The mechanisms by which genes control organ shape are poorly understood. In principle, genes may control shape by modifying local rates and/or orientations of deformation. Distinguishing between these possibilities has been difficult because of interactions between patterns, orientations, and mechanical constraints during growth. Here we show how a combination of growth analysis, molecular genetics, and modelling can be used to dissect the factors contributing to shape. Using the Snapdragon (Antirrhinum flower as an example, we show how shape development reflects local rates and orientations of tissue growth that vary spatially and temporally to form a dynamic growth field. This growth field is under the control of several dorsoventral genes that influence flower shape. The action of these genes can be modelled by assuming they modulate specified growth rates parallel or perpendicular to local orientations, established by a few key organisers of tissue polarity. Models in which dorsoventral genes only influence specified growth rates do not fully account for the observed growth fields and shapes. However, the data can be readily explained by a model in which dorsoventral genes also modify organisers of tissue polarity. In particular, genetic control of tissue polarity organisers at ventral petal junctions and distal boundaries allows both the shape and growth field of the flower to be accounted for in wild type and mutants. The results suggest that genetic control of tissue polarity organisers has played a key role in the development and evolution of shape.

  9. Evaluation of Probation Case Management (PCM) for Drug-Involved Women Offenders

    Science.gov (United States)

    Chan, Monica; Guydish, Joseph; Prem, Rosemary; Jessup, Martha A.; Cervantes, Armando; Bostrom, Alan

    2005-01-01

    Based on availability of case management services, drug-involved women offenders entered either a probation case management (PCM) intervention(n = 65) or standard probation(n = 44). Participants were placed in the case management condition until all slots were filled, then placed in standard probation until case management slots opened.…

  10. The gender effect in stroke thrombolysis: of CASES, controls, and treatment-effect modification.

    Science.gov (United States)

    Kent, David M; Buchan, Alastair M; Hill, Michael D

    2008-09-30

    Large studies of patients with acute stroke not receiving thrombolytic therapy have repeatedly demonstrated poorer outcomes for women compared to men. An analysis of five pooled randomized controlled trials testing IV recombinant tissue plasminogen activator (rtPA) demonstrated that rtPA benefits women more than men; the usual gender difference, apparent among controls, was totally nullified in the rtPA group. This nullification of the usual gender effect among rtPA-treated patients has not been confirmed. We analyzed baseline characteristics and functional outcomes in men vs women in the Canadian Alteplase for Stroke Effectiveness Study (CASES), a multicenter study that collected outcomes data for patients treated with rtPA in Canada to assess the safety and effectiveness of alteplase for stroke in the context of routine care. Among 1,110 patients, including 615 men and 505 women, a normal or near normal outcome at 90 days was found in 37.1% of men vs 36.0% of women (p = 0.71). This was essentially unchanged after adjusting for differences in baseline characteristics, including age >70, glucose, hypertension, atrial fibrillation, hypercholesterolemia, baseline National Institute of Health Stroke Severity, and baseline Alberta Stroke Program Early CT score (35.2% in men vs 38.2% in women, p = 0.332). Ninety-day mortality was similar between the sexes in both the adjusted and unadjusted analysis. There was no difference in 90-day outcomes in recombinant tissue plasminogen activator (rtPA)-treated men and rtPA-treated women. This is consistent with the pooled analysis of randomized controlled trials, showing greater benefit for thrombolysis in women and nullification of the usual gender difference in outcome.

  11. Admixture mapping of African-American women in the AMBER Consortium identifies new loci for breast cancer and estrogen-receptor subtypes

    Directory of Open Access Journals (Sweden)

    Edward Antonio Ruiz-Narvaez

    2016-09-01

    Full Text Available Recent genetic admixture coupled with striking differences in incidence of estrogen receptor (ER breast cancer subtypes, as well as severity, between women of African and European ancestry, provides an excellent rationale for performing admixture mapping in African American women with breast cancer risk. We performed the largest breast cancer admixture mapping study with in African American women to identify novel genomic regions associated with the disease. We conducted a genome-wide admixture scan using 2,624 autosomal ancestry informative markers (AIMs in 3,629 breast cancer cases (including 1,968 ER-positive, 1093 ER-negative and 601 triple-negative and 4,658 controls from the African American Breast Cancer Epidemiology and Risk (AMBER Consortium, a collaborative study of four large geographically different epidemiological studies of breast cancer in African American women. We used an independent case-control study to test for SNP association in regions with genome-wide significant admixture signals. We found two novel genome-wide significant regions of excess African ancestry, 4p16.1 and 17q25.1, associated with ER-positive breast cancer. Two regions known to harbor breast cancer variants, 10q26 and 11q13, were also identified with excess of African ancestry. Fine-mapping of the identified genome-wide significant regions suggests the presence of significant genetic associations with ER-positive breast cancer in 4p16.1 and 11q13. In summary, we identified three novel genomic regions associated with breast cancer risk by ER status, suggesting that additional previously unidentified variants may contribute to the racial differences in breast cancer risk in the African American population.

  12. Background parenchymal uptake on molecular breast imaging as a breast cancer risk factor: a case-control study.

    Science.gov (United States)

    Hruska, Carrie B; Scott, Christopher G; Conners, Amy Lynn; Whaley, Dana H; Rhodes, Deborah J; Carter, Rickey E; O'Connor, Michael K; Hunt, Katie N; Brandt, Kathleen R; Vachon, Celine M

    2016-04-26

    Molecular breast imaging (MBI) is a functional test used for supplemental screening of women with mammographically dense breasts. Additionally, MBI depicts variable levels of background parenchymal uptake (BPU) within nonmalignant, dense fibroglandular tissue. We investigated whether BPU is a risk factor for breast cancer. We conducted a retrospective case-control study of 3027 eligible women who had undergone MBI between February 2004 and February 2014. Sixty-two incident breast cancer cases were identified. A total of 179 controls were matched on age, menopausal status, and MBI year. Two radiologists blinded to case status independently assessed BPU as one of four categories: photopenic, minimal to mild, moderate, or marked. Conditional logistic regression analysis was performed to estimate the associations (OR) of BPU categories (moderate or marked vs. minimal to mild or photopenic) and breast cancer risk, adjusted for other risk factors. The median age was 60.2 years (range 38-86 years) for cases vs. 60.2 years (range 38-88 years) for controls (p = 0.88). Women with moderate or marked BPU had a 3.4-fold (95 % CI 1.6-7.3) and 4.8-fold (95 % CI 2.1-10.8) increased risk of breast cancer, respectively, compared with women with photopenic or minimal to mild BPU, for two radiologists. The results were similar after adjustment for BI-RADS density (OR 3.3 [95 % CI 1.6-7.2] and OR 4.6 [95 % CI 2.1-10.5]) or postmenopausal hormone use (OR 3.6 [95 % CI 1.7-7.7] and OR 5.0 [95 % CI 2.2-11.4]). The association of BPU with breast cancer remained in analyses limited to postmenopausal women only (OR 3.8 [95 % CI 1.5-9.3] and OR 4.1 [95 % CI 1.6-10.2]) and invasive breast cancer cases only (OR 3.6 [95 % CI 1.5-8.8] and OR 4.4 [95 % CI 1.7-11.1]). Variable BPU was observed among women with similar mammographic density; the distribution of BPU categories differed across density categories (p factor for breast cancer. Among women with dense breasts, who comprise

  13. Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations

    Directory of Open Access Journals (Sweden)

    Ariel B. Ganz

    2017-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs in choline metabolizing genes are associated with disease risk and greater susceptibility to organ dysfunction under conditions of dietary choline restriction. However, the underlying metabolic signatures of these variants are not well characterized and it is unknown whether genotypic differences persist at recommended choline intakes. Thus, we sought to determine if common genetic risk factors alter choline dynamics in pregnant, lactating, and non-pregnant women consuming choline intakes meeting and exceeding current recommendations. Women (n = 75 consumed 480 or 930 mg choline/day (22% as a metabolic tracer, choline-d9 for 10–12 weeks in a controlled feeding study. Genotyping was performed for eight variant SNPs and genetic differences in metabolic flux and partitioning of plasma choline metabolites were evaluated using stable isotope methodology. CHKA rs10791957, CHDH rs9001, CHDH rs12676, PEMT rs4646343, PEMT rs7946, FMO3 rs2266782, SLC44A1 rs7873937, and SLC44A1 rs3199966 altered the use of choline as a methyl donor; CHDH rs9001 and BHMT rs3733890 altered the partitioning of dietary choline between betaine and phosphatidylcholine synthesis via the cytidine diphosphate (CDP-choline pathway; and CHKA rs10791957, CHDH rs12676, PEMT rs4646343, PEMT rs7946 and SLC44A1 rs7873937 altered the distribution of dietary choline between the CDP-choline and phosphatidylethanolamine N-methyltransferase (PEMT denovo pathway. Such metabolic differences may contribute to disease pathogenesis and prognosis over the long-term.

  14. Placental vascular complications in HIV-infected pregnant women: a case-control study

    OpenAIRE

    CANLORBE, Geoffroy

    2012-01-01

    Background: Data from international literature suggest a link between HIV infection and placental vascular complications during pregnancy. Current studies on the subject are conflicting.Objective: The aim of the study was to evaluate the incidence of placental vascular complications during pregnancy among HIV+ and HIV- patients.Study Design: It is a single-center case-control study comparing the rates of gestational hypertension, preeclampsia, eclampsia and vascular intrauterine growth retard...

  15. A genetic risk score is associated with polycystic ovary syndrome-related traits.

    Science.gov (United States)

    Lee, Hyejin; Oh, Jee-Young; Sung, Yeon-Ah; Chung, Hye Won

    2016-01-01

    Is a genetic risk score (GRS) associated with polycystic ovary syndrome (PCOS) and its related clinical features? The GRS calculated by genome-wide association studies (GWASs) was significantly associated with PCOS status and its related clinical features. PCOS is a heterogeneous disorder and is characterized by oligomenorrhea, hyperandrogenism and polycystic ovary morphology. Although recent GWASs have identified multiple genes associated with PCOS, a comprehensive genetic risk study of these loci with PCOS and related traits (e.g. free testosterone, menstruation number/year and ovarian morphology) has not been performed. This study was designed as a cross-sectional case-control study. We recruited 862 women with PCOS and 860 controls. Women with PCOS were divided into four subgroups: (1) oligomenorrhea + hyperandrogenism + polycystic ovary, (2) oligomenorrhea + hyperandrogenism, (3) oligomenorrhea + polycystic ovary and (4) hyperandrogenism + polycystic ovary. Genomic DNA was genotyped for the PCOS susceptibility loci using the HumanOmni1-Quad v1 array. Venous blood was drawn in the early follicular phase to measure baseline metabolic and hormonal parameters. A GRS was calculated by summing the number of risk alleles from 11 single-nucleotide polymorphisms (SNPs) that were identified in previous GWASs on PCOS. A weighted GRS (wGRS) was calculated by multiplying the number of risk alleles for each SNP by its estimated effect (beta) obtained from the association analysis. The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P treatment approaches, which could potentially improve health outcomes. None of the authors have any conflicts of interest to declare. No funding was obtained for the study. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Epigenetic Alterations and an Increased Frequency of Micronuclei in Women with Fibromyalgia

    Directory of Open Access Journals (Sweden)

    Victoria Menzies

    2013-01-01

    Full Text Available Fibromyalgia (FM, characterized by chronic widespread pain, fatigue, and cognitive/mood disturbances, leads to reduced workplace productivity and increased healthcare expenses. To determine if acquired epigenetic/genetic changes are associated with FM, we compared the frequency of spontaneously occurring micronuclei (MN and genome-wide methylation patterns in women with FM (n=10 to those seen in comparably aged healthy controls (n=42 (MN; n=8 (methylation. The mean (sd MN frequency of women with FM (51.4 (21.9 was significantly higher than that of controls (15.8 (8.5 (χ2=45.552; df = 1; P=1.49×10-11. Significant differences (n=69 sites in methylation patterns were observed between cases and controls considering a 5% false discovery rate. The majority of differentially methylated (DM sites (91% were attributable to increased values in the women with FM. The DM sites included significant biological clusters involved in neuron differentiation/nervous system development, skeletal/organ system development, and chromatin compaction. Genes associated with DM sites whose function has particular relevance to FM included BDNF, NAT15, HDAC4, PRKCA, RTN1, and PRKG1. Results support the need for future research to further examine the potential role of epigenetic and acquired chromosomal alterations as a possible biological mechanism underlying FM.

  17. Genetic ancestry in relation to the metabolic response to a US versus traditional Mexican diet: a randomized crossover feeding trial among women of Mexican descent.

    Science.gov (United States)

    Santiago-Torres, M; De Dieu Tapsoba, J; Kratz, M; Lampe, J W; Breymeyer, K L; Levy, L; Song, X; Villaseñor, A; Wang, C-Y; Fejerman, L; Neuhouser, M L; Carlson, C S

    2017-03-01

    Certain populations with a large proportion of indigenous American (IA) genetic ancestry may be evolutionarily adapted to traditional diets high in legumes and complex carbohydrates, and may have a detrimental metabolic response to US diets high in refined carbohydrates and added sugars. We tested whether IA ancestry modified the metabolic response to a US versus traditional Mexican diet in a controlled dietary intervention. First and second generation Mexican immigrant women (n=53) completed a randomized crossover feeding trial testing the effects of a US versus traditional Mexican diet. The metabolic response to the diets was measured by fasting serum concentrations of glucose, insulin, insulin-like growth factor-1 (IGF-1), IGF-binding protein-3 (IGFBP-3), adiponectin, C-reactive protein, interleukin-6 and computed homeostasis model assessment for insulin resistance (HOMA IR ). Blood collected at baseline was used for genotyping, and estimation of African, European and IA ancestries with the use of 214 ancestry informative markers. The genetic ancestral background was 56% IA, 38% European and 6% African. Women in the highest IA ancestry tertile (>62%) were shorter in height, less educated and less acculturated to the US lifestyle, and tended to have higher waist-to-hip ratio compared with women in the middle and lowest IA ancestry tertiles, respectively. Compared with the US diet, the traditional Mexican diet tended to reduce glucose, insulin, IGF-1, IGFBP-3 and HOMA IR among women in the middle IA ancestry group (IA ancestry ⩽45-62%), whereas having no effect on biomarkers related to inflammation. We observed modest interactions between IA ancestry and the metabolic response to a US versus traditional Mexican diet among Mexican immigrant women.

  18. Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling.

    Science.gov (United States)

    Ockhuysen-Vermey, Caroline F; Henneman, Lidewij; van Asperen, Christi J; Oosterwijk, Jan C; Menko, Fred H; Timmermans, Daniëlle R M

    2008-10-03

    Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication) study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer. The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1) lifetime risk in numerical format (natural frequencies, i.e. X out of 100), 2) lifetime risk in both numerical format and graphical format (population figures), 3) lifetime risk and age-related risk in numerical format, 4) lifetime risk and age-related risk in both numerical format and graphical format, and 5) lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care). Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands. The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services. Current Controlled Trials ISRCTN14566836.

  19. Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

    Directory of Open Access Journals (Sweden)

    Menko Fred H

    2008-10-01

    Full Text Available Abstract Background Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer. Methods and design The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1 lifetime risk in numerical format (natural frequencies, i.e. X out of 100, 2 lifetime risk in both numerical format and graphical format (population figures, 3 lifetime risk and age-related risk in numerical format, 4 lifetime risk and age-related risk in both numerical format and graphical format, and 5 lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care. Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands. Discussion The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services. Trial registration Current Controlled Trials ISRCTN14566836.

  20. Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature.

    Directory of Open Access Journals (Sweden)

    Mian Li

    Full Text Available Previous studies have found that common genetic variants on chromosome 8q24 are associated with the risk of developing colorectal neoplasia. We conducted a hospital-based case-control study, including 435 cases and 788 unrelated controls to investigate the associations between common variants on 8q24 and the risk of colorectal cancer in a Chinese population. We also evaluated the association of rs6983267 with colorectal neoplasia in the published literature via a meta-analysis study. We found that rs6983267 was significantly associated with the risk of colorectal cancer in the Chinese population, with an adjusted odds-ratio (OR for the GT heterozygotes and GG homozygotes of 1.30 (95% CI= 0.98-1.71, P = 0.069 and 1.66 (95% CI = 1.18-2.34, P = 0.004, respectively, compared to the TT homozygotes, with a P-trend value of 0.003. No association was found for the other three loci (rs16901979, rs1447295 and rs7837688. In the meta-analysis of the published genetic association studies, the rs6983267 variant was found to be associated with an increased risk of colorectal neoplasia. The heterozygous GT carriers showed a 20% increased risk of colorectal neoplasia (OR= 1.20, 95% CI= 1.16-1.25; random effects model with a summary OR for homozygous GG carriers of 1.39 (95% CI= 1.32-1.48; random effects model compared to the TT genotype carriers. We found no significant differences between the association of rs6983267 and colorectal cancer and colorectal adenomas. In summary, our study confirms that the variant rs6983267 is a risk factor for colorectal neoplasia in various populations, including the Chinese population.

  1. Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

    Science.gov (United States)

    Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

    2014-08-01

    In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Women's perceived internal control of future pregnancy outcomes and its related factors.

    Science.gov (United States)

    Maleki, Azam; Mazloomzadeh, Saeideh

    2013-03-01

    With regards to the importance of women's beliefs in improving pregnancy outcomes, this study was performed to determine the perceived internal control on future pregnancy outcomes and its related factors in women who participated in pre-marital counseling. In a cross-sectional study, women's perceived internal control was investigated. The study population comprised the women in reproductive age of whom 400 were selected by random sampling. Data collection instrument was a questionnaire consisting of demographic, pre-conceptional care, and internal control questions. Two categories of favorite and not favorite levels of internal control were defined based on the total score. The validity of the questionnaire was determined via content validity method by use of experts' opinion and its reliability was evaluated through the calculation of Cronbach's alpha coefficient which was 0.76. Data were analyzed through frequency tables, correlation coefficient, and Chi-square test at the confidence level of 0.95. Two hundred sixty-five (65%) women had a good perceived internal control and it was significantly associated with the age, educational level, and hearing about pre-conceptional care. The internal control score also showed a positive and significant correlation with both age and the subject knowledge about folic acid (r = 0.19 and r = 0.15, respectively). The majority of women had a favorite perceived internal control. Since age and educational level were the affecting factors on the perceived internal control of women, promoting the level of internal control in young women and those with low education in pre-marital counseling classes seems necessary.

  3. Risk of postpartum psychosis after IVF treatment: a nationwide case-control study.

    Science.gov (United States)

    Vikström, Josefin; Josefsson, Ann; Hammar, Mats; Bladh, Marie; Sydsjö, Gunilla

    2017-01-01

    Is the risk of postpartum psychosis (PPP) increased in women who give birth after IVF treatment compared to after spontaneous conception? The risk of PPP is not higher in the group of women who give birth after IVF treatment compared with women who give birth after spontaneous conception. Women who conceive using IVF treatment can experience higher levels of pregnancy-specific distress and are at increased risk of pre-eclampsia, an immune-related condition which in turn has been linked to PPP, as well as other pregnancy and delivery complications, which also serve as PPP risk factors. It is not known whether the risk of PPP is increased in women who have conceived using IVF treatment. A nationwide, register-based, case-control study of all primiparous women who had given birth after IVF treatment between 1988 and 2012. Information about 10 412 women was collected from the Swedish IVF register. A control group of women who had given birth after spontaneous conception was selected from the Swedish Medical Birth Register (n = 18 624). PPP diagnoses, identified using ICD-10 diagnostic codes F20-31 and F531 the first year postpartum, were collected from the National Patient Register. Associations between PPP and IVF/spontaneous conception were evaluated using chi-square tests and logistic regression analyses while controlling for known risk factors of PPP. There were no differences in PPP prevalence between the IVF group and the control group (0.3%, n = 29 versus 0.4%, n = 77) in the chi-square analysis (P = 0.169) or the multiple logistic regression analyses (P = 0.646; odds ratio (OR): 1.178; 95% CI: 586-2.365). No associations between pregnancy or delivery complications and PPP were found. A history of any psychiatric disorder (P IVF treatment, more studies are needed to verify these results. The generalizability is restricted to primiparous women in western countries. This study confirms the results of previous studies in showing a history of mental illness to be

  4. Intrapartum amnioinfusion in meconium-stained liquor: a case-control study.

    Science.gov (United States)

    Bansal, Neeta; Gupta, Vineeta; Nanda, Anuja; Chaudhary, Priyanka; Tandon, Archna; Behl, Neelima

    2013-06-01

    The aim of this study was to investigate perinatal outcome and the rate of cesarean section (CS) following intrapartum amnioinfusion in women with meconium-stained amniotic fluid (MSAF). A total of 100 women at term in labor with meconium were randomized to infuse transcervical intrapartum amnioinfusion with saline (50) and routine obstetrical care (50). Perinatal outcome and obstetric outcome were recorded and analyzed in both groups by means of Chi-square test. The CS rate due to fetal distress was 40.0 % in the control group and 20.0 % in the study group. The difference was statistically significant (P Amnioinfusion in cases of meconium-stained liquor significantly improved neonatal outcome and CS rate without increasing any maternal and fetal complications.

  5. Gingivitis and periodontitis as a risk factor for stroke: A case-control study in the Iranian population.

    Science.gov (United States)

    Hashemipour, Maryam Alsadat; Afshar, Afsaneh Jahanshahi; Borna, Roya; Seddighi, Behnas; Motamedi, Amin

    2013-09-01

    Periodontitis and gingivitis are one of the most infectious diseases in human. Several studies have been carried out on dependence of periodontitis and stroke. The aim of this study was to investigate the gingivitis and periodontitis as a risk factor for stroke in Iranian population. A case-control study was conducted on 100 patients suffering from stroke as case group, and 100 hospitalized patients as control group. The case group included 42 males and 58 females, and in control group there were 44 males and 56 females. Using a University of North Carolina-15 manual probe, the clinical attachment level, the distance between the cemento-enamel junction and the probed base of the periodontal pocket, were recorded by gingival and periodontal indexes. The data were analyzed by multiple logistic regressions, Chi-square test, Fisher's test, t-test, Man Whitney, and SPSS11.5 software program. P > 0.05 was considered as significant. The case group included 42 males and 58 females, and in control group 44 males and 56 females were included. In this investigation, the average of gingival index in men and women of case group was 1.22 ± 0.55 and 1.31 ± 0.55, respectively. This study showed that the average of gingival index in case group was more than control group. Periodontal index in both groups in men was more than women. The moderate and severe periodontitis in case group were more than that of control group (P = 0.003, P = 0.001). The result of this study shows that there is a significant relation between stroke and periodontal index; however, there isn't any significant relation between stroke and gingival index.

  6. Changing Lives: the case for women-only vocational technology training revisited

    NARCIS (Netherlands)

    Rommes, E.W.M.; Faulkner, W.; Slooten, I. van

    2005-01-01

    Women-only vocational courses in technology, which became popular across Western Europe during the 1980s, had fallen from fashion by 2000. Yet the need for such courses remains, at least in certain circumstances. Drawing on case studies of two women-only courses in information and communications

  7. Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women.

    Science.gov (United States)

    Jung, Su Yon; Sobel, Eric M; Papp, Jeanette C; Zhang, Zuo-Feng

    2017-04-26

    Impaired glucose metabolism-related genetic variants and traits likely interact with obesity and related lifestyle factors, influencing postmenopausal breast and colorectal cancer (CRC), but their interconnected pathways are not fully understood. By stratifying via obesity and lifestyles, we partitioned the total effect of glucose metabolism genetic variants on cancer risk into two putative mechanisms: 1) indirect (risk-associated glucose metabolism genetic variants mediated by glucose metabolism traits) and 2) direct (risk-associated glucose metabolism genetic variants through pathways other than glucose metabolism traits) effects. Using 16 single-nucleotide polymorphisms (SNPs) associated with glucose metabolism and data from 5379 postmenopausal women in the Women's Health Initiative Harmonized and Imputed Genome-Wide Association Studies, we retrospectively assessed the indirect and direct effects of glucose metabolism-traits (fasting glucose, insulin, and homeostatic model assessment-insulin resistance [HOMA-IR]) using two quantitative tests. Several SNPs were associated with breast cancer and CRC risk, and these SNP-cancer associations differed between non-obese and obese women. In both strata, the direct effect of cancer risk associated with the SNP accounted for the majority of the total effect for most SNPs, with roughly 10% of cancer risk due to the SNP that was from an indirect effect mediated by glucose metabolism traits. No apparent differences in the indirect (glucose metabolism-mediated) effects were seen between non-obese and obese women. It is notable that among obese women, 50% of cancer risk was mediated via glucose metabolism trait, owing to two SNPs: in breast cancer, in relation to GCKR through glucose, and in CRC, in relation to DGKB/TMEM195 through HOMA-IR. Our findings suggest that glucose metabolism genetic variants interact with obesity, resulting in altered cancer risk through pathways other than those mediated by glucose metabolism traits.

  8. Dietary patterns and risk of colorectal cancer in Tehran Province: a case?control study

    OpenAIRE

    Safari, Akram; Shariff, Zalilah Mohd; Kandiah, Mirnalini; Rashidkhani, Bahram; Fereidooni, Foroozandeh

    2013-01-01

    Background Colorectal cancer is the third and fourth leading cause of cancer incidence and mortality among men and women, respectively in Iran. However, the role of dietary factors that could contribute to this high cancer incidence remains unclear. The aim of this study was to determine major dietary patterns and its relationship with colorectal cancer. Methods This case?control study was conducted in four hospitals in Tehran city of Iran. A total of 71 patients (35 men and 36 women, aged 40...

  9. Risk Factors Profile of Shoulder Dystocia in Oman: A Case Control Study

    Science.gov (United States)

    Al-Khaduri, Maha M.; Abudraz, Rania Mohammed; Al-Farsi, Yahya M.

    2014-01-01

    Objective This study aimed to assess the risk factor profile of shoulder dystocia and associated neonatal complications in Oman, a developing Arab country. Methods A retrospective case-control study was conducted among 111 cases with dystocia and 111 controls, identified during 1994-2006 period in a tertiary care hospital in Oman. Controls were randomly selected among women who did not have dystocia, and were matched to cases on the day of delivery. Data related to potential risk factors, delivery, and obstetric complications were collected. Results Dystocia was significantly associated with older maternal age, higher parity, larger BMI, diabetes, and previous record of dystocia. In addition, dystocia was associated more with vacuum and forceps deliveries. Routine traction (51%) was the most used manoeuvre. Among dystocia cases, 13% were associated with fetal complications of which Erb’s Palsy was the most prevalent (79%). Conclusion Our finding of significant associations with risk factors lays out the ground to develop a predictability index for shoulder dystocia, which would help in making it preventable. Further p rospective studies are required to confirm the obtained results. PMID:25337307

  10. Risk Factors Profile of Shoulder Dystocia in Oman: A Case Control Study

    Directory of Open Access Journals (Sweden)

    Maha M. Al-Khaduri

    2014-09-01

    Full Text Available Objective: This study aimed to assess the risk factor profile of shoulder dystocia and associated neonatal complications in Oman, a developing Arab country. Methods: A retrospective case-control study was conducted among 111 cases with dystocia and 111 controls, identified during 1994-2006 period in a tertiary care hospital in Oman. Controls were randomly selected among women who did not have dystocia, and were matched to cases on the day of delivery. Data related to potential risk factors, delivery, and obstetric complications were collected. Results: Dystocia was significantly associated with older maternal age, higher parity, larger BMI, diabetes, and previous record of dystocia. In addition, dystocia was associated more with vacuum and forceps deliveries. Routine traction (51% was the most used manoeuvre. Among dystocia cases, 13% were associated with fetal complications of which Erb’s Palsy was the most prevalent (79%. Conclusion: Our finding of significant associations with risk factors lays out the ground to develop a predictability index for shoulder dystocia, which would help in making it preventable. Further prospective studies are required to confirm the obtained results.

  11. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were ...

  12. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

    NARCIS (Netherlands)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M.; Papatheodorou, Efstathios; Ware, James S.; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R.; Crawford, Jackie; Love, Donald R.; Pua, Chee J.; Soh, Bee Y.; Bhalshankar, Jaydutt D.; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G.; van der Werf, Christian; Wijeyeratne, Yanushi D.; Mellor, Greg; Till, Jan; Cohen, Marta C.; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A. M.; Cook, Stuart A.; Bezzina, Connie R.; Sheppard, Mary N.; Behr, Elijah R.

    2017-01-01

    Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and

  13. Antioxidants and breast cancer risk- a population-based case-control study in Canada

    Directory of Open Access Journals (Sweden)

    Morrison Howard

    2011-08-01

    Full Text Available Abstract Background The effect of antioxidants on breast cancer is still controversial. Our objective was to assess the association between antioxidants and breast cancer risk in a large population-based case-control study. Methods The study population included 2,362 cases with pathologically confirmed incident breast cancer (866 premenopausal and 1,496 postmenopausal and 2,462 controls in Canada. Intakes of antioxidants from diet and from supplementation as well as other potential risk factors for breast cancer were collected by a self-reported questionnaire. Results Compared with subjects with no supplementation, 10 years or longer supplementation of zinc had multivariable-adjusted odds ratios (OR and 95% confidence intervals (CI of 0.46 (0.25-0.85 for premenopausal women, while supplementation of 10 years or longer of multiple vitamin, beta-carotene, vitamin C, vitamin E and zinc had multivariable-adjusted ORs (95% CIs of 0.74 (0.59, 0.92, 0.58 (0.36, 0.95, 0.79 (0.63-0.99, 0.75 (0.58, 0.97, and 0.47 (0.28-0.78, respectively, for postmenopausal women. No significant effect of antioxidants from dietary sources (including beta-carotene, alpha-carotene, lycopene, lutein and zeaxanthin, vitamin C, vitamin E, selenium and zinc or from supplementation less than 10 years was observed. Conclusions This study suggests that supplementation of zinc in premenopausal women, and supplementation of multiple vitamin, beta-carotene, vitamin C, vitamin E and zinc in postmenopausal women for 10 or more years may protect women from developing breast cancer. However, we were unable to determine the overall effect of total dose or intake from both diet and supplement.

  14. The allelic distribution of -308 Tumor Necrosis Factor-alpha gene polymorphism in South African women with cervical cancer and control women

    International Nuclear Information System (INIS)

    Govan, Vandana A; Constant, Debbie; Hoffman, Margaret; Williamson, Anna-Lise

    2006-01-01

    Cervical cancer is due to infection with specific high-risk types of human papillomavirus (HPV). Although the incidence of genital HPV infection in various population groups is high, most of these regress without intervention. Investigating genetic host factors and cellular immune responses, particularly cytokines, could help to understand the association between genital HPV infection and carcinogenesis. The tumor necrosis factor alpha (TNF-α) cytokine plays an important role in all stages of cervical cancer and has the ability to induce the regression of human tumors. Therefore the aim of the study was to investigate the allelic distribution of -308 TNF-α gene polymorphism in South African women with cervical cancer compared to control women. Included in our study were women with histologically proven cancer of the cervix (n = 244) and hospital-based controls (n = 228). All patients and controls were from mixed race and black population groups in South Africa. The detection of a bi-allelic -308 (A/G) polymorphism in the promoter region of TNF-α was investigated using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. The distributions of the allelic frequencies were stratified in both patients and controls into two South African ethnic population groups. In this study we observed no association between the distribution of -308 TNF-α polymorphism and the risk of developing cervical cancer even after combining the data from the two ethnic populations (X 2 = 2.26). In addition, using the chi-squared test we found no significant association between the known risk factors for cervical cancer and the allele distribution of -308 TNF-α. However, the frequency of the rare high-producing allele -308A of TNF-α was significantly lower in the South African population when compared to Caucasians and Chinese population groups. We demonstrated no association between -308 TNF-α polymorphism and the risk of cervical cancer among two

  15. The Genetic Contribution of West-African Ancestry to Protection against Central Obesity in African-American Men but Not Women: Results from the ARIC and MESA Studies.

    Science.gov (United States)

    Klimentidis, Yann C; Arora, Amit; Zhou, Jin; Kittles, Rick; Allison, David B

    2016-01-01

    Over 80% of African-American (AA) women are overweight or obese. A large racial disparity between AA and European-Americans (EA) in obesity rates exists among women, but curiously not among men. Although socio-economic and/or cultural factors may partly account for this race-by-sex interaction, the potential involvement of genetic factors has not yet been investigated. Among 2814 self-identified AA in the Atherosclerosis Risk in Communities study, we estimated each individual's degree of West-African genetic ancestry using 3437 ancestry informative markers. We then tested whether sex modifies the association between West-African genetic ancestry and body mass index (BMI), waist-circumference (WC), and waist-to-hip ratio (WHR), adjusting for income and education levels, and examined associations of ancestry with the phenotypes separately in males and females. We replicated our findings in the Multi-Ethnic Study of Atherosclerosis (n = 1611 AA). In both studies, we find that West-African ancestry is negatively associated with obesity, especially central obesity, among AA men, but not among AA women (pinteraction = 4.14 × 10(-5) in pooled analysis of WHR). In conclusion, our results suggest that the combination of male gender and West-African genetic ancestry is associated with protection against central adiposity, and suggest that the large racial disparity that exists among women, but not men, may be at least partly attributed to genetic factors.

  16. Lay support for pregnant women with social risk: a randomised controlled trial

    Science.gov (United States)

    Kenyon, Sara; Jolly, Kate; Hemming, Karla; Hope, Lucy; Blissett, Jackie; Dann, Sophie-Anna; Lilford, Richard; MacArthur, Christine

    2016-01-01

    Objectives We sought evidence of effectiveness of lay support to improve maternal and child outcomes in disadvantaged families. Design Prospective, pragmatic, individually randomised controlled trial. Setting 3 Maternity Trusts in West Midlands, UK. Participants Following routine midwife systematic assessment of social risk factors, 1324 nulliparous women were assigned, using telephone randomisation, to standard maternity care, or addition of referral to a Pregnancy Outreach Worker (POW) service. Those under 16 years and teenagers recruited to the Family Nurse Partnership trial were excluded. Interventions POWs were trained to provide individual support and case management for the women including home visiting from randomisation to 6 weeks after birth. Standard maternity care (control) included provision for referring women with social risk factors to specialist midwifery services, available to both arms. Main outcome measures Primary outcomes were antenatal visits attended and Edinburgh Postnatal Depression Scale (EPDS) 8–12 weeks postpartum. Prespecified, powered, subgroup comparison was among women with 2 or more social risks. Secondary outcomes included maternal and neonatal birth outcomes; maternal self-efficacy, and mother-to-infant bonding at 8–12 weeks; child development assessment at 6 weeks, breastfeeding at 6 weeks, and immunisation uptake at 4 months, all collected from routine child health systems. Results Antenatal attendances were high in the standard care control and did not increase further with addition of the POW intervention (10.1 vs 10.1 (mean difference; MD) −0.00, 95% CI (95% CI −0.37 to 0.37)). In the powered subgroup of women with 2 or more social risk factors, mean EPDS (MD −0.79 (95% CI −1.56 to −0.02) was significantly better, although for all women recruited, no significant differences were seen (MD −0.59 (95% CI −1.24 to 0.06). Mother-to-infant bonding was significantly better in the intervention group

  17. Impact of Asthma on the Sexual Functioning of Patients. A Case-Control Study.

    Science.gov (United States)

    Soto Campos, José Gregorio; Rojas Villegas, Josefa; Padilla Galo, Alicia; Marina Malanda, Nuria; Garcia Rivero, Juan Luis; Pinedo Sierra, Celia; Garcia Salmones, Mercedes; Cabrera Galán, Carmen; Segura Molina, Esperanza; Plaza, Vicente; Pascual Erquicia, Silvia

    2017-12-01

    Sexual limitations play an important role in the quality of life of patients with chronic diseases. Very limited information is available on the impact of asthma on the sexual functioning of these individuals. Cross-sectional, observational, multicenter study. Asthma patients and healthy individuals were recruited. All subjects participated in an interview in which demographic and clinical data were recorded, and completed the Goldberg Anxiety-Depression Scale (GADS) to evaluate the presence of concomitant psychiatric disease. Men also completed the International Index of Erectile Function (IIEF), and women, the Female Sexual Function Index (FSFI). A total of 276cases were included, comprising 172asthma patients (63 men and 109 women) with a mean age of 42 (±14) years, and 104 controls (52men and 51women) with a mean age of 39 (±12) years. Time since onset of asthma was 15 years and severity distribution was: 6.4% intermittent, 17.9% mild persistent, 47.4% moderate, and 28.2% severe. Disease was considered controlled in 57.7%, partially controlled in 28.2%, and uncontrolled in 14.1%. Women with asthma had greater sexual limitations than women in the control group, with a total FSFI score of 22.1 (±9) compared to 26.5 (±6.8), respectively (P<.005). Men with asthma had significantly more severe erectile dysfunction with a total IIEF score of 59.5 (±12.5) compared to 64.3 (±8.2) in male controls (P<.05). An association was also observed between sexual problems and poorer asthma control. Asthma is associated with a poorer sexual quality of life among patients. These results should arouse the interest of healthcare professionals in detecting and alleviating possible sexual limitations among their asthma patients in routine clinical practice. Copyright © 2017 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. 77 FR 11136 - Proposed Collection; Comment Request; a Multi-Center International Hospital-Based Case-Control...

    Science.gov (United States)

    2012-02-24

    ... proposed projects to be submitted to the Office of Management and Budget (OMB) for review and approval... conclusively established and the identification of the key, functional alleles in gene regions associated with... underlying genetic structure. A multidisciplinary case- control study of lymphoma in Asia, where lymphoma...

  19. International Guidelines on Human Rights and Drug Control: A Tool for Securing Women's Rights in Drug Control Policy.

    Science.gov (United States)

    Schleifer, Rebecca; Pol, Luciana

    2017-06-01

    Discrimination and inequality shape women's experiences of drug use and in the drug trade and the impact of drug control efforts on them, with disproportionate burdens faced by poor and otherwise marginalized women. In recent years, UN member states and UN drug control and human rights entities have recognized this issue and made commitments to integrate a 'gender perspective' into drug control policies, with 'gender' limited to those conventionally deemed women. But the concept of gender in international law is broader, rooted in socially constructed and culturally determined norms and expectations around gender roles, sex, and sexuality. Also, drug control policies often fail to meaningfully address the specific needs and circumstances of women (inclusively defined), leaving them at risk of recurrent violations of their rights in the context of drugs. This article explores what it means to 'mainstream' this narrower version of gender into drug control efforts, using as examples various women's experiences as people who use drugs, in the drug trade, and in the criminal justice system. It points to international guidelines on human rights and drug control as an important tool to ensure attention to women's rights in drug control policy design and implementation.

  20. Exercise Training and Weight Gain in Obese Pregnant Women: A Randomized Controlled Trial (ETIP Trial.

    Directory of Open Access Journals (Sweden)

    Kirsti Krohn Garnæs

    2016-07-01

    Full Text Available The effectiveness of exercise training for preventing excessive gestational weight gain (GWG and gestational diabetes mellitus (GDM is still uncertain. As maternal obesity is associated with both GWG and GDM, there is a special need to assess whether prenatal exercise training programs provided to obese women reduce the risk of adverse pregnancy outcomes. Our primary aim was to assess whether regular supervised exercise training in pregnancy could reduce GWG in women with prepregnancy overweight/obesity. Secondary aims were to examine the effects of exercise in pregnancy on 30 outcomes including GDM incidence, blood pressure, blood measurements, skinfold thickness, and body composition.This was a single-center study where we randomized (1:1 91 pregnant women with a prepregnancy body mass index (BMI ≥ 28 kg/m2 to exercise training (n = 46 or control (standard maternity care (n = 45. Assessments were done at baseline (pregnancy week 12-18 and in late pregnancy (week 34-37, as well as at delivery. The exercise group was offered thrice weekly supervised sessions of 35 min of moderate intensity endurance exercise and 25 min of strength training. Seventeen women were lost to follow-up (eight in the exercise group and nine in the control group. Our primary endpoint was GWG from baseline testing to delivery. The principal analyses were done as intention-to-treat analyses, with supplementary per protocol analyses where we assessed outcomes in the women who adhered to the exercise program (n = 19 compared to the control group. Mean GWG from baseline to delivery was 10.5 kg in the exercise group and 9.2 kg in the control group, with a mean difference of 0.92 kg (95% CI -1.35, 3.18; p = 0.43. Among the 30 secondary outcomes in late pregnancy, an apparent reduction was recorded in the incidence of GDM (2009 WHO definition in the exercise group (2 cases; 6.1% compared to the control group (9 cases; 27.3%, with an odds ratio of 0.1 (95% CI 0.02, 0.95; p = 0

  1. Brain-relevant antibodies in first-episode psychosis: a matched case-control study.

    Science.gov (United States)

    Gaughran, Fiona; Lally, John; Beck, Katherine; McCormack, Ruaidhri; Gardner-Sood, Poonam; Coutinho, Ester; Jacobson, Leslie; Lang, Bethan; Sainz-Fuertes, Ricardo; Papanastasiou, Evangelos; Di Forti, Marta; Nicholson, Tim; Vincent, Angela; Murray, Robin M

    2018-06-01

    There has been much recent excitement about the possibility that some cases of psychosis may be wholly due to brain-reactive antibodies, with antibodies to N-methyl-D-aspartate receptor (NMDAR) and the voltage-gated potassium channel (VGKC)-complex reported in a few patients with first-episode psychosis (FEP). Participants were recruited from psychiatric services in South London, UK, from 2009 to 2011 as part of the Genetics and Psychosis study. We conducted a case-control study to examine NMDAR and VGKC-complex antibody levels and rates of antibody positivity in 96 patients presenting with FEP and 98 controls matched for age and sex. Leucine-rich glioma inactiviated-1 (LGI1) and contactin-associated protein (CASPR) antibodies were also measured. Notably, patients with suspicion of organic disease were excluded. VGKC-complex antibodies were found in both cases (n = 3) and controls (n = 2). NMDAR antibody positivity was seen in one case and one control. Either LGI1-Abs or CASPR2-Abs were found in three cases and three controls. Neuronal antibody staining, consistent with the above results or indicating potential novel antigens, was overall positive in four patients but also in six controls. Overall, antibody positivity was at low levels only and not higher in cases than in controls. This case-control study of the prevalence of antibodies in FEP does not provide evidence to support the hypothesis that FEP is associated with an immune-mediated process in a subgroup of patients. Nevertheless, as other bio-clinical factors may influence the effect of such antibodies in a given individual, and patients with organic neurological disease may be misdiagnosed as FEP, the field requires more research to put these findings in context.

  2. The emotional impact of genetic testing and aspects of counseling prior to prescription of oral contraceptives.

    Science.gov (United States)

    Gartner, Verena; Weber, Michael; Eichinger, Sabine

    2008-11-01

    Oral contraceptives increase the thrombotic risk in women with factor V Leiden. Emotional aspects of genetic testing prior to the prescription of oral contraceptives (OC), aspects of counseling and referral patterns are widely unknown. Two hundred forty-seven women with and 132 women without factor V Leiden were interviewed by questionnaire. One hundred sixty-one women (65%) with factor V Leiden and 63 (48%) with wild-type factor V responded. One hundred seventy-one women (76%) reported being emotionally disturbed by genetic testing. Eighty percent of women with factor V Leiden and 16% of women with wild-type factor V were discouraged from OC use. Three percent of women with factor V Leiden were encouraged to take OC. Forty-one percent of women with factor V Leiden used at least one hormone contraceptive method after diagnosis. Only 46 women (29%) with factor V Leiden were counseled about the relevance of the mutation in case of pregnancy. Testing for factor V Leiden has considerable emotional impact. Recommendations after testing are not consistently driven by the test result.

  3. Body Weight and Breast Cancer: Nested Case-Control Study in Southern Brazil.

    Science.gov (United States)

    Kops, Natália Luiza; Bessel, Marina; Caleffi, Maira; Ribeiro, Rodrigo Antonini; Wendland, Eliana Marcia

    2018-04-28

    Current studies have shown that fast weight gain may be more important than body mass index on the incidence of breast cancer. The aim of this study was to evaluate the association between body weight and breast cancer. This was a case-control study nested in a cohort of a breast cancer mammography screening program in Southern Brazil. A trained investigator administered a standardized interview to collect sociodemographic and clinical data, and body weight history (weight at menarche, at marriage, at first and last pregnancy, and at menopause). Current anthropometric measurements were also made. Fifty-seven women with cancer (66.7% postmenopausal) and 159 controls were included. Current age (60.3 ± 10.4 vs. 55.8 ± 8.4 years, P weight at different stages of life. Women with social vulnerability recruited at a mammography screening program in Southern Brazil showed a large weight gain during life, but no significant differences were found in body weight between women with or without breast cancer. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Postural control in women with breast hypertrophy

    Directory of Open Access Journals (Sweden)

    Alessandra Ferreira Barbosa

    2012-07-01

    Full Text Available OBJECTIVES: The consequences of breast hypertrophy have been described based on the alteration of body mass distribution, leading to an impact on psychological and physical aspects. The principles of motor control suggest that breast hypertrophy can lead to sensorimotor alterations and the impairment of body balance due to postural misalignment. The aim of this study is to evaluate the postural control of women with breast hypertrophy under different sensory information conditions. METHOD: This cross-sectional study included 14 women with breast hypertrophy and 14 without breast hypertrophy, and the mean ages of the groups were 39 ±15 years and 39±16 years, respectively. A force platform was used to assess the sensory systems that contribute to postural control: somatosensory, visual and vestibular. Four postural conditions were sequentially tested: eyes open and fixed platform, eyes closed and fixed platform, eyes open and mobile platform, and eyes closed and mobile platform. The data were processed, and variables related to the center of pressure were analyzed for each condition. The Kruskal-Wallis test was used to compare the conditions between the groups for the area of center of pressure displacement and the velocity of center of pressure displacement in the anterior-posterior and medial-lateral directions. The alpha level error was set at 0.05. RESULTS: Women with breast hypertrophy presented an area that was significantly higher for three out of four conditions and a higher velocity of center of pressure displacement in the anterior-posterior direction under two conditions: eyes open and mobile platform and eyes closed and mobile platform. CONCLUSIONS: Women with breast hypertrophy have altered postural control, which was demonstrated by the higher area and velocity of center of pressure displacement.

  5. ROBUST-HYBRID GENETIC ALGORITHM FOR A FLOW-SHOP SCHEDULING PROBLEM (A Case Study at PT FSCM Manufacturing Indonesia

    Directory of Open Access Journals (Sweden)

    Johan Soewanda

    2007-01-01

    Full Text Available This paper discusses the application of Robust Hybrid Genetic Algorithm to solve a flow-shop scheduling problem. The proposed algorithm attempted to reach minimum makespan. PT. FSCM Manufacturing Indonesia Plant 4's case was used as a test case to evaluate the performance of the proposed algorithm. The proposed algorithm was compared to Ant Colony, Genetic-Tabu, Hybrid Genetic Algorithm, and the company's algorithm. We found that Robust Hybrid Genetic produces statistically better result than the company's, but the same as Ant Colony, Genetic-Tabu, and Hybrid Genetic. In addition, Robust Hybrid Genetic Algorithm required less computational time than Hybrid Genetic Algorithm

  6. [Breast cancer and heredity: results of a population case-control study in Girona].

    Science.gov (United States)

    de Sanjosé, S; Viladiu, P; Cordón, F; Vilardell, L; Marcos, R; Izquìerdo, A

    1998-03-21

    To characterise the relationship between breast cancer and different aspects of the reproductive life, use of drugs and alcohol by family history of breast cancer. From the cancer registry of Girona, Spain, 330 women were identified with histologically confirmed breast cancer during 1986-1989. For each case, a control woman was selected from a random sample of the population living in the matched area to the case by age (+/- 5 yr.). The information was collected by a personal interview and included: family history of breast cancer, reproductive history, presence of acne during the teenage years, use of oral contraceptives and drugs for sleep and anxiety disorders, and alcohol consumption. 18.5% of breast cancer cases and 8.9% of all controls had a family history of breast cancer. Family history on a first degree relative (mother or sister) was present in 10.6% of the cases and 2.8% of controls, which represented an odds ratio for breast cancer of 3.7 (95% CI, 1.8-7.8) higher than the general population. Women with a first degree family history of breast cancer were at higher risk for breast cancer if they had a history of acne during the teenage period (OR = 2.4; 95% CI, 1.1-5.2) and if they referred long menstrual periods in the early years of menarche (OR = 3.1; 95% CI, 1.3-7.0). Women with no family history had a higher breast cancer risk if they had a late menarche, long menstrual periods, late first full term pregnancy, and history of acne during puberty. Alcohol consumption and use of drugs for anxiety and sleep disorders were associated with a decreased risk of breast cancer. First degree family history of breast cancer seems to be the best risk indicator for developing breast cancer. Long menstrual periods and presence of acne during puberty may indicate hormonal imbalance that act independently of the family history in breast cancer development.

  7. Case-control vaccine effectiveness studies: Preparation, design, and enrollment of cases and controls.

    Science.gov (United States)

    Verani, Jennifer R; Baqui, Abdullah H; Broome, Claire V; Cherian, Thomas; Cohen, Cheryl; Farrar, Jennifer L; Feikin, Daniel R; Groome, Michelle J; Hajjeh, Rana A; Johnson, Hope L; Madhi, Shabir A; Mulholland, Kim; O'Brien, Katherine L; Parashar, Umesh D; Patel, Manish M; Rodrigues, Laura C; Santosham, Mathuram; Scott, J Anthony; Smith, Peter G; Sommerfelt, Halvor; Tate, Jacqueline E; Victor, J Chris; Whitney, Cynthia G; Zaidi, Anita K; Zell, Elizabeth R

    2017-06-05

    Case-control studies are commonly used to evaluate effectiveness of licensed vaccines after deployment in public health programs. Such studies can provide policy-relevant data on vaccine performance under 'real world' conditions, contributing to the evidence base to support and sustain introduction of new vaccines. However, case-control studies do not measure the impact of vaccine introduction on disease at a population level, and are subject to bias and confounding, which may lead to inaccurate results that can misinform policy decisions. In 2012, a group of experts met to review recent experience with case-control studies evaluating the effectiveness of several vaccines; here we summarize the recommendations of that group regarding best practices for planning, design and enrollment of cases and controls. Rigorous planning and preparation should focus on understanding the study context including healthcare-seeking and vaccination practices. Case-control vaccine effectiveness studies are best carried out soon after vaccine introduction because high coverage creates strong potential for confounding. Endpoints specific to the vaccine target are preferable to non-specific clinical syndromes since the proportion of non-specific outcomes preventable through vaccination may vary over time and place, leading to potentially confusing results. Controls should be representative of the source population from which cases arise, and are generally recruited from the community or health facilities where cases are enrolled. Matching of controls to cases for potential confounding factors is commonly used, although should be reserved for a limited number of key variables believed to be linked to both vaccination and disease. Case-control vaccine effectiveness studies can provide information useful to guide policy decisions and vaccine development, however rigorous preparation and design is essential. Published by Elsevier Ltd.

  8. Genetic Algorithms for Case Adaptation

    International Nuclear Information System (INIS)

    Salem, A.M.; Mohamed, A.H.

    2008-01-01

    Case adaptation is the core of case based reasoning (CBR) approach that can modify the past solutions to solve new problems. It generally relies on the knowledge base and heuristics in order to achieve the required changes. It has always been a difficult process to designers within (CBR) cycle. Its difficulties can be referred to the large effort, and computational analysis needed for acquiring the knowledge's domain. To solve these problems, this research explores a new method that applying a genetic algorithm (GA) to CBR adaptation. However, it can decrease the computational complexity of determining the required changes of the problems especially those having a great amount of domain knowledge. besides, it can decrease the required time by dividing the design task into sub tasks those can be solved at the same time. Therefore, the proposed system can he practically applied for solving the complex problems. It can be used to perform a variety of design tasks on a broad set of application domains. However, it has been implemented for the tablet formulation as a domain of application. Proposed system has improved the accuracy performance of the CBR design systems

  9. Pregnant womens' concerns when invited to a randomized trial: a qualitative case control study

    NARCIS (Netherlands)

    Oude Rengerink, Katrien; Logtenberg, Sabine; Hooft, Lotty; Bossuyt, Patrick M.; Mol, Ben Willem

    2015-01-01

    Pregnant women were excluded from clinical trials until the 1990s, but the Food and Drug Administration nowadays allows--and even encourages--responsible inclusion of pregnant women in trials with adequate safety monitoring. Still, randomized trials in pregnant women face specific enrolment

  10. Pregnant womens' concerns when invited to a randomized trial : a qualitative case control study

    NARCIS (Netherlands)

    Oude Rengerink, Katrien; Logtenberg, Sabine; Hooft, Lotty; Bossuyt, Patrick M; Mol, Ben Willem; Oude Rengerink, K

    2015-01-01

    BACKGROUND: Pregnant women were excluded from clinical trials until the 1990s, but the Food and Drug Administration nowadays allows--and even encourages--responsible inclusion of pregnant women in trials with adequate safety monitoring. Still, randomized trials in pregnant women face specific

  11. Sport activity and the risk of breast cancer: results from a case - control study

    Directory of Open Access Journals (Sweden)

    J Kruk

    2003-03-01

    Full Text Available A casecontrol study of 257 women with breast cancer and 565 control women was conducted to investigate the effect of life-time sport activity on breast cancer risk. Information was collected by questionnaire about sports played, frequency of participation and duration. The activity levels were determined using frequency variable weighted for metabolic equivalents of energy expenditure (MET. Multivariate logistic regression analyses were used to compute odds ratios (ORs and 95% confidence intervals (CIs. A full assessment of confounding and effect modification was undertaken. The odds ratios for increasing tertiles of sport activity were 1.00 (referent, 0.50 (CI: 0.33-0.76 and 0.44 (CI: 0.28-0.64, respectively (P-trend = 0.000. Comparing sport active women to inactive women the OR was 0.49 (CI: 0.35-0.69. Models stratified according to body mass index, age at menarche, age at first full term pregnancy, intake of vegetables and fruits, and experience of stress were examined. In models stratified the risks of breast cancer were also reduced with higher levels of activity in sport. The conclusion is that women who participated in sports have a reduced risk of breast cancer.

  12. Optimization Design by Genetic Algorithm Controller for Trajectory Control of a 3-RRR Parallel Robot

    Directory of Open Access Journals (Sweden)

    Lianchao Sheng

    2018-01-01

    Full Text Available In order to improve the control precision and robustness of the existing proportion integration differentiation (PID controller of a 3-Revolute–Revolute–Revolute (3-RRR parallel robot, a variable PID parameter controller optimized by a genetic algorithm controller is proposed in this paper. Firstly, the inverse kinematics model of the 3-RRR parallel robot was established according to the vector method, and the motor conversion matrix was deduced. Then, the error square integral was chosen as the fitness function, and the genetic algorithm controller was designed. Finally, the control precision of the new controller was verified through the simulation model of the 3-RRR planar parallel robot—built in SimMechanics—and the robustness of the new controller was verified by adding interference. The results show that compared with the traditional PID controller, the new controller designed in this paper has better control precision and robustness, which provides the basis for practical application.

  13. Genetic hemoglobin disorders rather than iron deficiency are a major predictor of hemoglobin concentration in women of reproductive age in rural prey Veng, Cambodia.

    Science.gov (United States)

    Karakochuk, Crystal D; Whitfield, Kyly C; Barr, Susan I; Lamers, Yvonne; Devlin, Angela M; Vercauteren, Suzanne M; Kroeun, Hou; Talukder, Aminuzzaman; McLean, Judy; Green, Timothy J

    2015-01-01

    Anemia is common in Cambodian women. Potential causes include micronutrient deficiencies, genetic hemoglobin disorders, inflammation, and disease. We aimed to investigate factors associated with anemia (low hemoglobin concentration) in rural Cambodian women (18-45 y) and to investigate the relations between hemoglobin disorders and other iron biomarkers. Blood samples were obtained from 450 women. A complete blood count was conducted, and serum and plasma were analyzed for ferritin, soluble transferrin receptor (sTfR), folate, vitamin B-12, retinol binding protein (RBP), C-reactive protein (CRP), and α1 acid glycoprotein (AGP). Hemoglobin electrophoresis and multiplex polymerase chain reaction were used to determine the prevalence and type of genetic hemoglobin disorders. Overall, 54% of women had a genetic hemoglobin disorder, which included 25 different genotypes (most commonly, hemoglobin E variants and α(3.7)-thalassemia). Of the 420 nonpregnant women, 29.5% had anemia (hemoglobin 8.3 mg/L), hemoglobin disorders, respectively. There was no biochemical evidence of vitamin A deficiency (RBP 5 mg/L) and 26% (AGP >1 g/L) of nonpregnant women, respectively. By using an adjusted linear regression model, the strongest predictors of hemoglobin concentration were hemoglobin E homozygous disorder and pregnancy status. Other predictors were 2 other heterozygous traits (hemoglobin E and Constant Spring), parity, RBP, log ferritin, and vitamin B-12. Multiple biomarkers for anemia and iron deficiency were significantly influenced by the presence of hemoglobin disorders, hence reducing their diagnostic sensitivity. Further investigation of the unexpectedly low prevalence of IDA in Cambodian women is warranted. © 2015 American Society for Nutrition.

  14. LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

    Science.gov (United States)

    Al-Harbi, Khalid M; Abdallah, Atiyeh M

    2016-09-01

    We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.

  15. The meaning of "control" for childbearing women in the US.

    Science.gov (United States)

    Namey, Emily E; Lyerly, Anne Drapkin

    2010-08-01

    Childbearing women, healthcare providers, and commentators on birth broadly identify control as an important issue during childbirth; however, control is rarely defined in literature on the topic. Here we seek to deconstruct the term control as used by childbearing women to better understand the issues and concepts underpinning it. Based on qualitative interviews with 101 parous women in the United States, we analyze meanings of control within the context of birth narratives. We find these meanings correspond to five distinct domains: self-determination, respect, personal security, attachment, and knowledge. We also find ambivalence about this term and concept, in that half our sample recognizes "you cannot control birth". Together, these findings call into question the usefulness of the term for measuring quality or improving maternity care and highlight other concepts which may be more fruitfully explored. (c) 2010 Elsevier Ltd. All rights reserved.

  16. Risk Factors For Ectopic Pregnancy : A Case Control Study

    Directory of Open Access Journals (Sweden)

    Deshmukh J.S

    1999-01-01

    Full Text Available Research question: Which are the risk factors for ectopic pregnancy . Objective: To study the strength of association between hypothesised risk factors and ectopic pregnancy. Study design: Unmatched case- control study. Setting: Government Medical College, Hospital, Nagpur. Participants: 133 cases of ectopic pregnancy and equal number of controls (non pregnant women admitted to study hospital. Study variables : Pelvic inflammatory diseases, sexually transmitted diseases, IUD use at conception , past use of IUD, prior ectopic pregnancy, OC pills use at the time of conception, past use of OC pills, induced abortion, spontaneous abortion, infertility and pelvic and abdominal surgery. Statistical analysis: Odds ratios & their 95% CI, Pearson’s chi square test, unconditional logistic regression analysis and population attributable risk proportion. Results : Use of IUD at conception, prior ectopic pregnancy , pelvic inflammatory disease, sexually transmitted diseases, infertility, OC pills use at the time of conception, past use of IUD and induced abortion were found to be significantly associated with ectopic pregnancy. Conclusion: Identification of these risk factors for etopic pregnancy shall help in early detection and appropriate management in an individual case and it may help in devising a comprehensive preventive strategy for ectopic pregnancy

  17. Genetic variants of genital mycoplasmas and their relation to the clinical course of inflammatory diseases of the urogenital system in women

    Directory of Open Access Journals (Sweden)

    M. R. Rakhmatulina

    2014-01-01

    Full Text Available Goal of the study. To study genetic variability of M. hominis (based on the vaa gene and M. genitalium (based on the mg192 gene derived from biological material samples taken from women with different clinical manifestations of inflammatory diseases of the urogenital system and clinically healthy women (for M. hominis. Materials and methods. Genetic variability of twenty M. hominis samples taken from patients with inflammatory diseases of the urogenital system and twenty M. hominis samples taken from patients without clinical and laboratory signs of inflammatory processes of the urogenital system was studied by the sequence analysis method. Genetic variability of eight M. genitalium samples taken from patients with different clinical signs of inflammatory diseases of the urogenital system was also examined by the sequence analysis method. Results. Three genetic variants of M. hominis based on the vaa gene were found; variant I was revealed more often in patients with clinical manifestations of inflammatory diseases (65.0%, and variant II - in clinically healthy women (60.0%. Three phylogenetic M. gentium groups based on the mg192 gene were revealed; two samples were referred to Groups I and II, and four samples were referred to Group III. Samples from each phylogenetic groups were taken from patients with clinical and laboratory manifestations of cervicitis and urethritis. Conclusion. The study data demonstrate a potential effect of the VAA surface protein on the virulence of opportunistic M. hominis pathogens.

  18. The genetic component of preeclampsia

    DEFF Research Database (Denmark)

    Hansen, Anette Tarp; Bernth Jensen, Jens Magnus; Hvas, Anne-Mette

    2018-01-01

    Preeclampsia is a major cause of maternal and perinatal deaths. The aetiology of preeclampsia is largely unknown but a polygenetic component is assumed. To explore this hypothesis, we performed an in-depth whole-exome sequencing study in women with (cases, N = 50) and without (controls, N = 50......) preeclampsia. The women were identified in an unselected cohort of 2,545 pregnant women based on data from the Danish National Patient Registry and the Medical Birth Registry. Matching DNA was obtained from a biobank containing excess blood from routine antenatal care visits. Novogene performed the whole......-exome sequencing blinded to preeclampsia status. Variants for comparison between cases and controls were filtered in the Ingenuity Variant Analysis software. We applied two different strategies; a disease association panel approach, which included variants in single genes associated with established clinical risk...

  19. Cost-effectiveness of a screening strategy for Q fever among pregnant women in risk areas: a clustered randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Lo-Ten-Foe Jerome R

    2010-11-01

    Full Text Available Abstract Background In The Netherlands the largest human Q fever outbreak ever reported in the literature is currently ongoing with more than 2300 notified cases in 2009. Pregnant women are particularly at risk as Q fever during pregnancy may cause maternal and obstetric complications. Since the majority of infected pregnant women are asymptomatic, a screening strategy might be of great value to reduce Q fever related complications. We designed a trial to assess the (cost-effectiveness of a screening program for Q fever in pregnant women living in risks areas in The Netherlands. Methods/design We will conduct a clustered randomized controlled trial in which primary care midwife centres in Q fever risk areas are randomized to recruit pregnant women for either the control group or the intervention group. In both groups a blood sample is taken around 20 weeks postmenstrual age. In the intervention group, this sample is immediately analyzed by indirect immunofluorescence assay for detection of IgG and IgM antibodies using a sensitive cut-off level of 1:32. In case of an active Q fever infection, antibiotic treatment is recommended and serological follow up is performed. In the control group, serum is frozen for analysis after delivery. The primary endpoint is a maternal (chronic Q fever or reactivation or obstetric complication (low birth weight, preterm delivery or fetal death in Q fever positive women. Secondary aims pertain to the course of infection in pregnant women, diagnostic accuracy of laboratory tests used for screening, histo-pathological abnormalities of the placenta of Q fever positive women, side effects of therapy, and costs. The analysis will be according to the intention-to-screen principle, and cost-effectiveness analysis will be performed by comparing the direct and indirect costs between the intervention and control group. Discussion With this study we aim to provide insight into the balance of risks of undetected and detected Q

  20. Risk and protective factors for spasmodic dysphonia: a case-control investigation.

    Science.gov (United States)

    Tanner, Kristine; Roy, Nelson; Merrill, Ray M; Kimber, Kamille; Sauder, Cara; Houtz, Daniel R; Doman, Darrin; Smith, Marshall E

    2011-01-01

    Spasmodic dysphonia (SD) is a chronic, incurable, and often disabling voice disorder of unknown pathogenesis. The purpose of this study was to identify possible endogenous and exogenous risk and protective factors uniquely associated with SD. Prospective, exploratory, case-control investigation. One hundred fifty patients with SD and 150 medical controls (MCs) were interviewed regarding their personal and family histories, environmental exposures, illnesses, injuries, voice use patterns, and general health using a previously vetted and validated epidemiologic questionnaire. Odds ratios and multiple logistic regression analyses (α<0.15) identified several factors that significantly increased the likelihood of having SD. These factors included (1) a personal history of mumps, blepharospasm, tremor, intense occupational and avocational voice use, and a family history of voice disorders; (2) an immediate family history of meningitis, tremor, tics, cancer, and compulsive behaviors; and (3) an extended family history of tremor and cancer. SD is likely multifactorial in etiology, involving both genetic and environmental factors. Viral infections/exposures, along with intense voice use, may trigger the onset of SD in genetically predisposed individuals. Future studies should examine the interaction among genetic and environmental factors to determine the pathogenesis of SD. Copyright © 2011 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

  1. Report of the Advisory Group Meeting on Genetic Methods of Insect Control

    International Nuclear Information System (INIS)

    1987-01-01

    Despite the availability of a range of modern pest control techniques, insects remain a major cause of production losses in agriculture and contribute significantly to diseases of man and livestock. The increasing incidence of pesticide resistance, and concerns over the environmental impact of residues, have highlighted the need for improved technologies. As a result, genetic methods of pest control, including the use of irradiation sterilized insects, have become of increasing importance. It is therefore essential that the Joint FAO/IAEA Division continues to promote the development and application of this method of pest control. The advisory group concluded that the opportunities for genetic control might be widened by the application of new techniques, particularly recombinant DNA technology. The scope for integration of genetic control methods with other control measures, and ist use as a temporary suppressive measure on an area-wide basis was also recognized. Examples are given from representative groups of insect pests to illustrate how these concepts can be applied. The advisory group regarded the Seibersdorf laboratory as a unique facility for the conduct of tactical research related to mass-rearing and release procedures for major pests such as medfly and tsetse spp. Associated research on genetic sexing of medfly, diet recycling and the development of more environmentally acceptable alternatives for pre-release suppression of medfly were considered to be important research projects. The advisory group concluded that the laboratory should continue to remain a centre of excellence for mass-rearing technologies for medfly and tsetse spp., and for training scientists and technicians from developing countries. The Joint FAO/IAEA Division currently plays a major co-ordinating and supportive role for those areas of international research which impinge on genetic control. The advisory group believes that the Joint FAO/IAEA Division should maintain its initiative

  2. Report of the Advisory Group Meeting on Genetic Methods of Insect Control

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1987-07-01

    Despite the availability of a range of modern pest control techniques, insects remain a major cause of production losses in agriculture and contribute significantly to diseases of man and livestock. The increasing incidence of pesticide resistance, and concerns over the environmental impact of residues, have highlighted the need for improved technologies. As a result, genetic methods of pest control, including the use of irradiation sterilized insects, have become of increasing importance. It is therefore essential that the Joint FAO/IAEA Division continues to promote the development and application of this method of pest control. The advisory group concluded that the opportunities for genetic control might be widened by the application of new techniques, particularly recombinant DNA technology. The scope for integration of genetic control methods with other control measures, and ist use as a temporary suppressive measure on an area-wide basis was also recognized. Examples are given from representative groups of insect pests to illustrate how these concepts can be applied. The advisory group regarded the Seibersdorf laboratory as a unique facility for the conduct of tactical research related to mass-rearing and release procedures for major pests such as medfly and tsetse spp. Associated research on genetic sexing of medfly, diet recycling and the development of more environmentally acceptable alternatives for pre-release suppression of medfly were considered to be important research projects. The advisory group concluded that the laboratory should continue to remain a centre of excellence for mass-rearing technologies for medfly and tsetse spp., and for training scientists and technicians from developing countries. The Joint FAO/IAEA Division currently plays a major co-ordinating and supportive role for those areas of international research which impinge on genetic control. The advisory group believes that the Joint FAO/IAEA Division should maintain its initiative

  3. Estrogen receptor alpha and risk for cognitive impairment in postmenopausal women

    DEFF Research Database (Denmark)

    Olsen, Line; Rasmussen, Henrik B; Hansen, Thomas

    2006-01-01

    -item Orientation-Memory-Concentration test in postmenopausal Danish women. Hormone replacement therapy, age and executive cognitive ability were examined as covariates for ESR1 gene effects on cognitive impairment. The XbaI polymorphism showed a marginal effect on cognitive abilities (P=0.054) when adjusted......The estrogen receptor alpha (ESR1) gene has been implicated in the process of cognitive impairment in elderly women. In a paired case-control study, we tested whether two ESR1 gene polymorphisms (the XbaI and PvuII sites) are risk factors for cognitive impairment as measured by the six...... for executive cognitive ability. Using a dominant genetic model for the X allele, we found an elevated risk (executive cognitive ability adjusted P=0.033) for cognitive impairment. Hormone replacement therapy also had a borderline effect on cognitive ability (P=0.049) and this effect was reflected in executive...

  4. Obesity-related hormones and endometrial cancer among postmenopausal women: a nested case-control study within the B~FIT cohort.

    Science.gov (United States)

    Dallal, Cher M; Brinton, Louise A; Bauer, Douglas C; Buist, Diana S M; Cauley, Jane A; Hue, Trisha F; Lacroix, Andrea; Tice, Jeffrey A; Chia, Victoria M; Falk, Roni; Pfeiffer, Ruth; Pollak, Michael; Veenstra, Timothy D; Xu, Xia; Lacey, James V

    2013-02-01

    Endometrial cancer risk is strongly influenced by obesity, but the mechanisms of action remain unclear. Leptin and adiponectin, secreted from adipose tissue, reportedly play a role in such carcinogenic processes as cell proliferation, angiogenesis, and insulin regulation. In this case-control study, nested within the Breast and Bone Follow-up of the Fracture Intervention Trial (n=15,595), we assessed pre-diagnostic serum leptin, total adiponectin, and high-molecular-weight (HMW) adiponectin in relation to endometrial cancer among postmenopausal women. During the 10-year follow-up, 62 incident endometrial cases were identified and matched to 124 controls on age, geographical site, time of fasting blood draw at baseline (1992-1993), and trial participation status. Adipokines and C-peptide were measured by ELISA. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were estimated via conditional logistic regression, with exposures categorized in tertiles (T). Multivariable models considered C-peptide, BMI (kg/m(2)), and estradiol (E2) as potential confounders. Endometrial cancer risk was significantly associated with higher leptin levels, adjusted for E2 and C-peptide (OR(T3 vs T1)=2.96; 95% CI, 1.21-7.25; P trend <0.01). After further adjustment for BMI, the estimates were attenuated and the positive trend was no longer statistically significant (OR(T3 vs T1)=2.11; 95% CI, 0.69-6.44; P trend=0.18). No significant associations were observed with adiponectin or HMW adiponectin and endometrial cancer. Our findings with leptin suggest that the leptin-BMI axis might increase endometrial cancer risk through mechanisms other than estrogen-driven proliferation. Continued exploration of these pathways in larger prospective studies may help elucidate mechanisms underlying observed obesity-endometrial cancer associations.

  5. Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.

    Science.gov (United States)

    Wang, Shengfeng; Qian, Frank; Zheng, Yonglan; Ogundiran, Temidayo; Ojengbede, Oladosu; Zheng, Wei; Blot, William; Nathanson, Katherine L; Hennis, Anselm; Nemesure, Barbara; Ambs, Stefan; Olopade, Olufunmilayo I; Huo, Dezheng

    2018-04-01

    Few studies have evaluated the performance of existing breast cancer risk prediction models among women of African ancestry. In replication studies of genetic variants, a change in direction of the risk association is a common phenomenon. Termed flip-flop, it means that a variant is risk factor in one population but protective in another, affecting the performance of risk prediction models. We used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados. Polygenic risk scores (PRSs) were constructed from the published odds ratios (ORs) of four sets of susceptibility loci for breast cancer. Discrimination capacity was measured using the area under the receiver operating characteristic curve (AUC). Flip-flop phenomenon was observed among 30~40% of variants across studies. Using the 34 variants with consistent directionality among previous studies, we constructed a PRS with AUC of 0.531 (95% confidence interval [CI]: 0.512-0.550), which is similar to the PRS using 93 variants and ORs from European ancestry populations (AUC = 0.525, 95% CI: 0.506-0.544). Additionally, we found the 34-variant PRS has good discriminative accuracy in women with family history of breast cancer (AUC = 0.586, 95% CI: 0.532-0.640). We found that PRS based on variants identified from prior GWASs conducted in women of European and Asian ancestries did not provide a comparable degree of risk stratification for women of African ancestry. Further large-scale fine-mapping studies in African ancestry populations are desirable to discover population-specific genetic risk variants.

  6. Fuzzy-Genetic Optimal Control for Four Degreeof Freedom Robotic Arm Movement

    OpenAIRE

    V. K. Banga; R. Kumar; Y. Singh

    2009-01-01

    In this paper, we present optimal control for movement and trajectory planning for four degrees-of-freedom robot using Fuzzy Logic (FL) and Genetic Algorithms (GAs). We have evaluated using Fuzzy Logic (FL) and Genetic Algorithms (GAs) for four degree-of-freedom (4 DOF) robotics arm, Uncertainties like; Movement, Friction and Settling Time in robotic arm movement have been compensated using Fuzzy logic and Genetic Algorithms. The development of a fuzzy genetic optimizatio...

  7. An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T

    1998-04-01

    To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

  8. Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia.

    Science.gov (United States)

    Bachelot, Anne; Chakhtoura, Zeina; Plu-Bureau, Geneviève; Coudert, Mathieu; Coussieu, Christiane; Badachi, Yasmina; Dulon, Jérome; Charbit, Beny; Touraine, Philippe

    2012-10-01

    Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis as in polycystic ovary syndrome (PCOS), but there is no precise evaluation. Our aim was to evaluate the gonadotropic axis and LH pulsatility patterns and to determine factor(s) that could account for the potential abnormality of LH pulsatility. Case/control study. Sixteen CAH women (11 with the salt-wasting form and five with the simple virilizing form), aged from 18 to 40 years, and 16 age-matched women, with regular menstrual cycles (28 ± 3 days), were included. LH pulse patterns over 6 h were determined in patients and controls. No differences were observed between patients and controls in terms of mean LH levels, LH pulse amplitude, or LH frequency. In CAH patients, LH pulsatility patterns were heterogeneous, leading us to perform a clustering analysis of LH data, resulting in a two-cluster partition. Patients in cluster 1 had similar LH pulsatility patterns to the controls. Patients in cluster 2 had: lower LH pulse amplitude and frequency and presented menstrual cycle disturbances more frequently; higher 17-OH progesterone, testosterone, progesterone, and androstenedione levels; and lower FSH levels. LH pulsatility may be normal in CAH women well controlled by hormonal treatment. Undertreatment is responsible for hypogonadotropic hypogonadism, with low LH pulse levels and frequency, but not PCOS. Suppression of progesterone and androgen concentrations during the follicular phase of the menstrual cycle should be a major objective in these patients.

  9. A case-control study between interleukin-10 gene variants and periodontal disease in dogs.

    Science.gov (United States)

    Albuquerque, Carlos; Morinha, Francisco; Requicha, João; Dias, Isabel; Guedes-Pinto, Henrique; Viegas, Carlos; Bastos, Estela

    2014-04-10

    Periodontal disease (PD) refers to a group of inflammatory diseases that affect the periodontium, the organ which surrounds and supports the teeth. PD is a highly prevalent disease with a multifactorial etiology and, in humans the individual susceptibility is known to be strongly determined by genetic factors. Several candidate genes have been studied, namely genes related with molecules involved in the inflammatory response. Interleukin-10 (IL-10) is a cytokine with important anti-inflammatory and immunomodulatory roles, and several studies indicate an association between IL10 polymorphisms and PD. In dogs, an important animal model in periodontology, PD is also a highly prevalent naturally occurring disease, and only now are emerging the first studies evaluating the genetic predisposition. In this case-control study, a population of 90 dogs (40 dogs with PD and 50 healthy dogs) was used to study the IL10 gene, and seven new genetic variations in this gene were identified. No statistically significant differences were detected in genotype and allele frequencies of these variations between the PD cases and control groups. Nevertheless, one of the variations (IL10/2_g.285G>A) leads to an amino acid change (glycine to arginine) in the putative signal peptide, being predicted a potential influence on IL-10 protein functionality. Further investigations are important to clarify the biological importance of these new findings. The knowledge of these genetic determinants can help to understand properly the complex causal pathways of PD, with important clinical implications. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. Vitamin D status and periodontal disease among pregnant women.

    Science.gov (United States)

    Boggess, Kim A; Espinola, Janice A; Moss, Kevin; Beck, Jim; Offenbacher, Steven; Camargo, Carlos A

    2011-02-01

    Maternal periodontal disease is found in pregnancy outcomes. Vitamin D deficiency may play a role in periodontal disease and tooth loss, and insufficient vitamin D status is common among pregnant women. The objective of this study is to examine the relationship between maternal vitamin D status and periodontal disease. A case-control study was conducted. Cases were defined as pregnant women with clinical moderate to severe periodontal disease; controls were pregnant women who were periodontally healthy. Maternal data were chart abstracted and serum was collected between 14 and 26 weeks of gestation. Serum 25-hydroxyvitamin D (25[OH]D) levels were measured using liquid chromatography-tandem mass spectrometry. Median serum 25(OH)D levels and prevalence of vitamin D insufficiency (defined as periodontal disease among women with vitamin D insufficiency was calculated using multivariable logistic regression, adjusting for maternal race, season of blood draw, and other potential confounders. A total of 117 cases were compared to 118 controls. Cases had lower median 25(OH)D levels than controls (59 versus 100 nmol/l; P periodontal disease among women with vitamin D insufficiency was 2.1 (0.99 to 4.5). Vitamin D insufficiency (serum 25[OH]D periodontal disease during pregnancy. Vitamin D supplementation represents a potential therapeutic strategy to improve maternal oral health.

  11. Genetic influences on incidence and case-fatality of infectious disease.

    Directory of Open Access Journals (Sweden)

    Liselotte Petersen

    Full Text Available BACKGROUND: Family, twin and adoption studies suggest that genetic susceptibility contributes to familial aggregation of infectious diseases or to death from infections. We estimated genetic and shared environmental influences separately on the risk of acquiring an infection (incidence and on dying from it (case fatality. METHODS: Genetic influences were estimated by the association between rates of hospitalization for infections and between case-fatality rates of adoptees and their biological full- and half- siblings. Familial environmental influences were investigated in adoptees and their adoptive siblings. Among 14,425 non-familial adoptions, granted in Denmark during the period 1924-47, we selected 1,603 adoptees, who had been hospitalized for infections and/or died with infection between 1977 and 1993. Their siblings were considered predisposed to infection, and compared with non-predisposed siblings of randomly selected 1,348 adoptees alive in 1993 and not hospitalized for infections in the observation period. The risk ratios presented were based on a Cox regression model. RESULTS: Among 9971 identified siblings, 2829 had been hospitalised for infections. The risk of infectious disease was increased among predisposed compared with non-predisposed in both biological (1.18; 95% confidence limits 1.03-1.36 and adoptive siblings (1.23; 0.98-1.53. The risk of a fatal outcome of the infections was strongly increased (9.36; 2.94-29.8 in biological full siblings, but such associations were not observed for the biological half siblings or for the adoptive siblings. CONCLUSION: Risk of getting infections appears to be weakly influenced by both genetically determined susceptibility to infection and by family environment, whereas there appears to be a strong non-additive genetic influence on risk of fatal outcome.

  12. PON1 polymorphisms are associated with polycystic ovary syndrome susceptibility, related traits, and PON1 activity in Indian women with the syndrome.

    Science.gov (United States)

    Dadachanji, Roshan; Shaikh, Nuzhat; Khavale, Sushma; Patil, Anushree; Shah, Nalini; Mukherjee, Srabani

    2015-07-01

    To investigate the association of paraoxonase 1 (PON1) polymorphisms (L55M and Q192R) with polycystic ovary syndrome (PCOS) susceptibility and its related traits in Indian women. Case-control study. Academic research institute, infertility, and endocrinology clinics. Controls (n = 326), women with PCOS (n = 482). None. Genotypic and allelic frequency distribution, genotype-phenotype association, different PON1 activities (lactonase, arylesterase, and paraoxonase). The genotypic and allelic frequency distributions of the L55M polymorphism were significantly different between lean controls and lean women with PCOS, and this polymorphism reduced the risk of PCOS development in lean but not in obese Indian women. Furthermore, this polymorphism was significantly associated with decreased 2-hour glucose, apolipoprotein B, free and bioavailable T, and free androgen index concurrent with increased sex hormone-binding globulin (SHBG) and FSH levels only in lean women with PCOS. However, Q192R polymorphism showed comparable genotypic frequency distribution between controls and women with PCOS. PON1 lactonase and arylesterase activities were significantly decreased in women with PCOS compared with controls. PON1 polymorphisms were shown to influence its activities. Our study showed that L55M, but not Q192R, polymorphism is significantly associated with reduced PCOS susceptibility only in lean women and also impacts glucose metabolism, lipid parameters, and hyperandrogenemia in them. Our study therefore suggests the possibility of differential genetic pathophysiology of PCOS between lean and obese women. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Health Insurance Type and Control of Hypertension Among US Women Living With and Without HIV Infection in the Women's Interagency HIV Study.

    Science.gov (United States)

    Ludema, Christina; Cole, Stephen R; Eron, Joseph J; Holmes, G Mark; Anastos, Kathryn; Cocohoba, Jennifer; Cohen, Marge H; Cooper, Hannah L F; Golub, Elizabeth T; Kassaye, Seble; Konkle-Parker, Deborah; Metsch, Lisa; Milam, Joel; Wilson, Tracey E; Adimora, Adaora A

    2017-06-01

    Health care access is an important determinant of health. We assessed the effect of health insurance status and type on blood pressure control among US women living with (WLWH) and without HIV. We used longitudinal cohort data from the Women's Interagency HIV Study (WIHS). WIHS participants were included at their first study visit since 2001 with incident uncontrolled blood pressure (BP) (i.e., BP ≥140/90 and at which BP at the prior visit was controlled (i.e., insured via Medicaid, were African-American, and had a yearly income ≤$12,000. Among participants living with HIV, comparing the uninsured to those with Medicaid yielded an 18-month BP control risk difference of 0.16 (95% CI: 0.10, 0.23). This translates into a number-needed-to-treat (or insure) of 6; to reduce the caseload of WLWH with uncontrolled BP by one case, five individuals without insurance would need to be insured via Medicaid. Blood pressure control was similar among WLWH with private insurance and Medicaid. There were no differences observed by health insurance status on 18-month risk of BP control among the HIV-uninfected participants. These results underscore the importance of health insurance for hypertension control-especially for people living with HIV. © American Journal of Hypertension, Ltd 2017. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  14. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

    Directory of Open Access Journals (Sweden)

    Seda Ates

    2016-09-01

    Full Text Available Aim: Premature ovarian insufficiency (POI is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%. All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3% women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman%u2019s age, cytogenetic investigations should be routinely performed in cases with POI.

  15. Anorexia nervosa versus bulimia nervosa: differences based on retrospective correlates in a case-control study.

    Science.gov (United States)

    Machado, Bárbara C; Gonçalves, Sónia F; Martins, Carla; Brandão, Isabel; Roma-Torres, António; Hoek, Hans W; Machado, Paulo P

    2016-06-01

    This study is the result of two Portuguese case-control studies that examined the replication of retrospective correlates and preceding life events in anorexia nervosa (AN) and bulimia nervosa (BN) development. This study aims to identify retrospective correlates that distinguish AN and BN METHOD: A case-control design was used to compare a group of women who met Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for AN (N = 98) and BN (N = 79) with healthy controls (N = 86) and with other psychiatric disorders (N = 68). Each control group was matched with AN patients regarding age and parental social categories. Risk factors were assessed by interviewing each person with the Oxford Risk Factor Interview. Compared to AN, women with BN reported significantly higher rates of paternal high expectations, excessive family importance placed on fitness/keeping in shape, and negative consequences due to adolescent overweight and adolescent objective overweight. Overweight during adolescence emerged as the most relevant retrospective correlate in the distinction between BN and AN participants. Family expectations and the importance placed on keeping in shape were also significant retrospective correlates in the BN group.

  16. Pregnancy outcome in hyperthyroidism: a case control study.

    Science.gov (United States)

    Aggarawal, Neelam; Suri, Vanita; Singla, Rimpi; Chopra, Seema; Sikka, Pooja; Shah, Viral N; Bhansali, Anil

    2014-01-01

    Data comparing pregnancy outcome in hyperthyroid women with euthyroid women are scarce. Hence, this study was carried out to assess the maternal and fetal outcome in pregnant women with hyperthyroidism to ascertain the effect of disease on pregnancy. This retrospective study was conducted over a period of 28 years. We compared the maternal and fetal outcomes of 208 hyperthyroid women with 403 healthy controls, between women with well-controlled and uncontrolled disease and amongst women diagnosed with hyperthyroidism before and during pregnancy. Maternal outcome: women with hyperthyroidism were at increased risk for preeclampsia (OR = 3.94), intrauterine growth restriction (OR = 2.16), spontaneous preterm labor (OR = 1.73), preterm birth (OR = 1.7), gestational diabetes mellitus (OR = 1.8), and cesarean delivery (OR = 1.47). Hyperthyroid women required induction of labor more frequently (OR = 3.61). Fetal outcome: newborns of hyperthyroid mothers had lower birth weight than normal ones (p = 0.0001). Women with uncontrolled disease had higher odds for still birth (OR = 8.42; 95% CI: 2.01-35.2) and lower birth weight (p = 0.0001). Obstetrical complications were higher in women with hyperthyroidism than normal women. Outcome was worsened by uncontrolled disease. Women with pregestational hyperthyroidism had better outcomes than those diagnosed with it during pregnancy. © 2014 S. Karger AG, Basel.

  17. Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To DNA Mutations.

    Science.gov (United States)

    Gómez-Flores-Ramos, Liliana; Castro-Sánchez, Andrea; Peña-Curiel, Omar; Mohar-Betancourt, Alejandro

    2017-01-01

    Young women with breast cancer (YWBC) represent roughly 15% of breast cancer (BC) cases in Latin America and other developing regions. Breast tumors occurring at an early age are more aggressive and have an overall worse prognosis compared to breast tumors in postmenopausal women. The expression of relevant proliferation biomarkers such as endocrine receptors and human epidermal growth factor receptor 2 appears to be unique in YWBC. Moreover, histopathological, molecular, genetic, and genomic studies have shown that YWBC exhibit a higher frequency of aggressive subtypes, differential tumor gene expression, increased genetic susceptibility, and specific genomic signatures, compared to older women with BC. This article reviews the current knowledge on tumor biology and genomic signatures in YWBC.

  18. Methodological issues of genetic association studies.

    Science.gov (United States)

    Simundic, Ana-Maria

    2010-12-01

    Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.

  19. Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study

    OpenAIRE

    Cole, John W; Brown, David W; Giles, Wayne H; Stine, Oscar C; O'Connell, Jeffrey R; Mitchell, Braxton D; Sorkin, John D; Wozniak, Marcella A; Stern, Barney J; Sparks, Mary J; Dobbins, Mark T; Shoffner, Latasha T; Zappala, Nancy K; Reinhart, Laurie J; Kittner, Steven J

    2008-01-01

    Abstract Background Although cigarette smoking is a well-established risk factor for vascular disease, the genetic mechanisms that link cigarette smoking to an increased incidence of stroke are not well understood. Genetic variations within the genes of the inflammatory pathways are thought to partially mediate this risk. Here we evaluate the association of several inflammatory gene single nucleotide polymorphisms (SNPs) with ischemic stroke risk among young women, further stratified by curre...

  20. Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

    Science.gov (United States)

    Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

    2017-02-01

    Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

  1. Bridging ImmunoGenomic Data Analysis Workflow Gaps (BIGDAWG): An integrated case-control analysis pipeline.

    Science.gov (United States)

    Pappas, Derek J; Marin, Wesley; Hollenbach, Jill A; Mack, Steven J

    2016-03-01

    Bridging ImmunoGenomic Data-Analysis Workflow Gaps (BIGDAWG) is an integrated data-analysis pipeline designed for the standardized analysis of highly-polymorphic genetic data, specifically for the HLA and KIR genetic systems. Most modern genetic analysis programs are designed for the analysis of single nucleotide polymorphisms, but the highly polymorphic nature of HLA and KIR data require specialized methods of data analysis. BIGDAWG performs case-control data analyses of highly polymorphic genotype data characteristic of the HLA and KIR loci. BIGDAWG performs tests for Hardy-Weinberg equilibrium, calculates allele frequencies and bins low-frequency alleles for k×2 and 2×2 chi-squared tests, and calculates odds ratios, confidence intervals and p-values for each allele. When multi-locus genotype data are available, BIGDAWG estimates user-specified haplotypes and performs the same binning and statistical calculations for each haplotype. For the HLA loci, BIGDAWG performs the same analyses at the individual amino-acid level. Finally, BIGDAWG generates figures and tables for each of these comparisons. BIGDAWG obviates the error-prone reformatting needed to traffic data between multiple programs, and streamlines and standardizes the data-analysis process for case-control studies of highly polymorphic data. BIGDAWG has been implemented as the bigdawg R package and as a free web application at bigdawg.immunogenomics.org. Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  2. Occupation and breast cancer risk in Polish women: a population-based case-control study.

    Science.gov (United States)

    Peplonska, Beata; Stewart, Patricia; Szeszenia-Dabrowska, Neonila; Rusiecki, Jennifer; Garcia-Closas, Montserrat; Lissowska, Jolanta; Bardin-Mikolajczak, Alicja; Zatonski, Witold; Gromiec, Jan; Brzeznicki, Slawomir; Brinton, Louise A; Blair, Aaron

    2007-02-01

    The etiology of breast cancer is not well understood and the role of occupational exposures in breast carcinogenesis is still uncertain. The population-based case-control study included 2,386 incident breast cancer cases diagnosed in 2000-2003, and 2,502 controls. Lifetime occupational histories and information on other potential breast cancer risk factors were obtained through personal interviews. Conditional logistic regression analyses calculated odds ratios (ORs) associated with various occupations and industries after control for potential confounders. We found statistically significant excesses of breast cancer among engineers (OR=2.0; 95% CI: 1.0-3.8), economists (2.1; 1.1-3.8), sales occupations-retail (1.2; 1.0-1.5), and other sales occupations (1.2; 1.0-1.5). Industries showing significantly elevated risks included special trade contractors (2.2; 1.2-4.3), electronic and electric equipment manufacturers (1.7; 1.1-2.7); and public administration/general government n.e.c. (2.7; 1.3-5.7). Each of these findings was supported by a statistically significant positive trend for duration of employment (Pelectronic and electric equipment manufacturing industry and for the occupations with potential exposure to magnetic fields deserve further evaluation.

  3. Television watching, leisure time physical activity, and the genetic predisposition in relation to body mass index in women and men.

    Science.gov (United States)

    Qi, Qibin; Li, Yanping; Chomistek, Andrea K; Kang, Jae H; Curhan, Gary C; Pasquale, Louis R; Willett, Walter C; Rimm, Eric B; Hu, Frank B; Qi, Lu

    2012-10-09

    Previous studies on gene-lifestyle interaction and obesity have focused mostly on the FTO gene and physical activity, whereas little attention has been paid to sedentary behavior as indicated by television (TV) watching. We analyzed interactions between TV watching, leisure time physical activity, and genetic predisposition in relation to body mass index (BMI) in 7740 women and 4564 men from 2 prospective cohorts: The Nurses' Health Study and the Health Professionals Follow-up Study. Data on physical activity and TV watching were collected 2 years before assessment of BMI. A weighted genetic risk score was calculated on the basis of 32 established BMI-associated variants. In both women and men, the genetic associations with BMI strengthened with increased hours of TV watching. An increment of 10 points in the weighted genetic risk score was associated with 0.8 (SE, 0.4), 0.8 (SE, 0.2), 1.4 (SE, 0.2), 1.5 (SE, 0.2), and 3.4 (SE, 1.0) kg/m(2) higher BMI across the 5 categories of TV watching (0-1, 2-5, 6-20, 21-40, and >40 h/wk; P for interaction=0.001). In contrast, the genetic association with BMI weakened with increased levels of physical activity. An increment of 10 points in the weighted genetic risk score was associated with 1.5 (SE, 0.2), 1.3 (SE, 0.2), 1.2 (SE, 0.2), 1.2 (SE, 0.2), and 0.8 (SE, 0.2) kg/m(2) higher BMI across the quintiles of physical activity. The interactions of TV watching and physical activity with genetic predisposition in relation to BMI were independent of each other. A sedentary lifestyle, indicated by prolonged TV watching, may accentuate the predisposition to elevated adiposity, whereas greater leisure time physical activity may attenuate the genetic association.

  4. Cognitive impairment in elderly women

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Bagger, Yu Z; Tankó, László B

    2006-01-01

    BACKGROUND: A variety of factors contribute to the development of cognitive impairment in elderly people. Previous studies have focused upon a single or a few risk factors. In this study we assessed and compared the significance of a wide variety of potential risk factors for cognitive impairment...... in postmenopausal women. METHODS: A total of 208 pairs of elderly women (mean age = 73.2 years) were examined in a cross-sectional case-control study. Each pair consisted of a case (with impaired cognition) and a control subject matched by age and educational status. Cognitive functions were determined using...

  5. MIGRATION POLICIES AND STATE CONTROL IN ARGENTINA: EXPERIENCES OF VULNERABLE BOLIVIAN WOMEN WHO CROSS THE BORDERS

    Directory of Open Access Journals (Sweden)

    Cynthia Pizarro

    2015-01-01

    Full Text Available This paper analyzes the way in which migration policies impact in the trajectories of Bolivian women who live and work in the outskirts of the main cities of Argentina. It focuses on three cases representative of the experiences of women laborers who, coming from the poorest rural areas of Bolivia, crossed the international border when Argentine migration policy was very restrictive. It shows that symbolic and socio-economic borders keep on excluding them, as well as other labor migrants, within the Argentine territory even when the current Migration Law enacted in 2004 is more inclusive, since it grants human and social rights to the migrants. It highlights the way in which particular state control mechanisms operate nowadays both at the international border and within the Argentine territory, and analyses the difficulties that these women experience due to their positions of class, ethnic, gender, nationality and migratory status. It remarks that despite the changes in the immigration policy of Argentina, state policies keep on controlling labor migrations in accordance with the paradigm of the governance of migration. It also analyses the strategies that these women develop in order to sort out state control policies. Therefore, it considers that they are active agents even though they still have feelings of fear and trauma associated with the crossing of borders.

  6. A Blueprint for a Synthetic Genetic Feedback Controller to Reprogram Cell Fate.

    Science.gov (United States)

    Del Vecchio, Domitilla; Abdallah, Hussein; Qian, Yili; Collins, James J

    2017-01-25

    To artificially reprogram cell fate, experimentalists manipulate the gene regulatory networks (GRNs) that maintain a cell's phenotype. In practice, reprogramming is often performed by constant overexpression of specific transcription factors (TFs). This process can be unreliable and inefficient. Here, we address this problem by introducing a new approach to reprogramming based on mathematical analysis. We demonstrate that reprogramming GRNs using constant overexpression may not succeed in general. Instead, we propose an alternative reprogramming strategy: a synthetic genetic feedback controller that dynamically steers the concentration of a GRN's key TFs to any desired value. The controller works by adjusting TF expression based on the discrepancy between desired and actual TF concentrations. Theory predicts that this reprogramming strategy is guaranteed to succeed, and its performance is independent of the GRN's structure and parameters, provided that feedback gain is sufficiently high. As a case study, we apply the controller to a model of induced pluripotency in stem cells. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Balance, Falls-Related Self-Efficacy, and Psychological Factors amongst Older Women with Chronic Low Back Pain: A Preliminary Case-Control Study

    OpenAIRE

    Champagne, Annick; Prince, François; Bouffard, Vicky; Lafond, Danik

    2012-01-01

    Objective. To investigate balance functions in older women and evaluate the association of the fear-avoidance beliefs model (FABM) factors with balance and mobility performance. Participants. Fifteen older women with CLBP was compared with age-matched pain-free controls (n = 15). Main Outcome Measures. Pain intensity, falls-related self-efficacy and intrinsic constructs in the FABM were evaluated. Postural steadiness (centre of pressure (COP)) and mobility functions were assessed. Linear rela...

  8. The Association between ABO and Rh Blood Groups and Risk of Endometriosis in Iranian Women.

    Science.gov (United States)

    Malekzadeh, Farideh; Moini, Ashraf; Amirchaghmaghi, Elham; Daliri, Leila; Akhoond, Mohammad Reza; Talebi, Mehrak; Hosseini, Rihaneh

    2018-06-01

    Endometriosis is a common gynaecological disease that affects quality of life for women. Several studies have revealed that both environmental and genetic factors contribute to the development of endometriosis. The aim of this study was to investigate the distribution of ABO and Rh blood groups in Iranian women with endometriosis who presented to two referral infertility centers in Tehran, Iran. In this case-control study, women who referred to Royan Institute and Arash Women's Hospital for diagnostic laparoscopy between 2013 and 2014 were assessed. Based on the laparoscopy findings, we categorized the women into two groups: endometriosis and control (women without endometriosis and normal pelvis). Chi-square and logistic regression tests were used for data analysis. In this study, we assessed 433 women, of which 213 patients were assigned to the endometriosis group while the remaining 220 subjects comprised the control group. The most frequent ABO blood group was O (40.6%). The least frequent blood group was AB (4.8%). In terms of Rh blood group, Rh+ (90.1%) was more frequent than Rh- (9.9%). There was no significant correlation between ABO (P=0.091) and Rh (P=0.55) blood groups and risk of endometriosis. Also, there was no significant difference between the two groups with regards to the stage of endometriosis and distribution of ABO and Rh blood groups (P>0.05). Although the O blood group was less dominant in Iranian women with endometriosis, we observed no significant correlation between the risk of endometriosis and the ABO and Rh blood groups. Endometriosis severity was not correlated to any of these blood groups. Copyright© by Royan Institute. All rights reserved.

  9. Platelet count and platelet indices in women with preeclampsia.

    Science.gov (United States)

    AlSheeha, Muneera A; Alaboudi, Rafi S; Alghasham, Mohammad A; Iqbal, Javed; Adam, Ishag

    2016-01-01

    Although the exact pathophysiology of preeclampsia is not completely understood, the utility of different platelets indices can be utilized to predict preeclampsia. To compare platelet indices, namely platelet count (PC), mean platelet volume (MPV), platelet distribution width (PDW), and PC to MPV ratio in women with preeclampsia compared with healthy controls. Qassim Hospital, Kingdom of Saudi Arabia. A case-control study. Sixty preeclamptic women were the cases and an equal number of healthy pregnant women were the controls. There was no significant difference in age, parity, and body mass index between the study groups. Sixteen and 44 of the cases were severe and mild preeclampsia, respectively. There was no significant difference in PDW and MPV between the preeclamptic and control women. Both PC and PC to MPV ratios were significantly lower in the women with preeclampsia compared with the controls. There was no significant difference in the PC, PDW, MPV, and PC to MPV ratio when women with mild and severe preeclampsia were compared. Using receiver operating characteristic (ROC) curves, the PC cutoff was 248.0×10 3 /µL for diagnosis of pre-eclampsia ( P =0.019; the area under the ROC curve was 62.4%). Binary regression suggests that women with PC preeclampsia (odds ratio =2.2, 95% confidence interval =1.08-4.6, P =0.03). The PC/MPV cutoff was 31.2 for diagnosis of preeclampsia ( P =0.035, the area under the ROC curve was 62.2%). PC preeclampsia.

  10. Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

    Science.gov (United States)

    Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

    2015-10-01

    Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

  11. Alcohol-related breast cancer in postmenopausal women - effect of CYP19A1, PPARG and PPARGC1A polymorphisms on female sex-hormone levels and interaction with alcohol consumption and NSAID usage in a nested case-control study and a randomised controlled trial

    DEFF Research Database (Denmark)

    Kopp, Tine Iskov; Jensen, Ditte Marie; Ravn-Haren, Gitte

    2016-01-01

    . Association between the CYP19A1 polymorphisms and hormone levels was also examined among 339 non-HRT users. Incidence rate ratios were calculated based on Cox' proportional hazards model. Furthermore, we performed a pilot randomised controlled trial to determine the effect of the PPARG Pro(12)Ala polymorphism...... and the PPARγ stimulator Ibuprofen on sex-hormone levels following alcohol intake in postmenopausal women (n = 25) using linear regression. Genetic variations in CYP19A1 were associated with hormone levels (estrone: P rs11070844 = 0.009, estrone sulphate: P rs11070844 = 0.01, P rs749292 = 0.004, P rs1062033 = 0...

  12. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

  13. Clinical characterization of women with burning mouth syndrome in a case-control study.

    Science.gov (United States)

    Acharya, Shikha; Carlén, Anette; Wenneberg, Bengt; Jontell, Mats; Hägglin, Catharina

    2018-05-01

    Burning mouth syndrome (BMS) is a chronic orofacial pain disorder that is defined by a burning sensation in the oral mucosa. The aim of this study was to investigate the underlying factors, clinical characteristics and self-reported oral and general health factors associated with BMS. Fifty-six women with BMS (mean age: 67.7) and their age-matched controls were included in the study. A general questionnaire, an OHRQL index and BMS-specific questionnaires were used. Each subject underwent an oral examination. The mean severity of the BMS symptoms (VAS, 0-100) was 66.2 (SD 19.7). Overall, 45% of the patients reported taste disturbances. More of the patients than the controls rated their general health, oral health and life situation as 'less satisfactory'. The patients also reported more frequently on-going medications, diseases/disorders, xerostomia, allergy and skin diseases. Except for more bruxofacets among the patients, there were no significant differences regarding signs of parafunction. In a multiple logistic regression analysis, xerostomia and skin diseases showed the strongest prediction for BMS and no significant effect was found for medication, allergy or bruxofacets. Skin diseases and xerostomia but not parafunction were strongly associated with BMS. Our findings provide the basis for additional studies to elucidate the causal factors of BMS.

  14. First trimester serum placental growth factor and hyperglycosylated human chorionic gonadotropin are associated with pre-eclampsia: a case control study.

    Science.gov (United States)

    Keikkala, Elina; Koskinen, Sini; Vuorela, Piia; Laivuori, Hannele; Romppanen, Jarkko; Heinonen, Seppo; Stenman, Ulf-Håkan

    2016-11-25

    To study whether maternal serum hyperglycosylated human chorionic gonadotropin (hCG-h) improves first trimester prediction of pre-eclampsia when combined with placental growth factor (PlGF), pregnancy-associated plasma protein-A (PAPP-A) and maternal risk factors. Gestational-age-adjusted concentrations of hCG, hCG-h, PlGF and PAPP-A were analysed in serum samples by time-resolved immunofluorometric assays at 8-13 weeks of gestation. The case-control study included 98 women who developed pre-eclampsia, 25 who developed gestational hypertension, 41 normotensive women with small-for-gestational-age (SGA) infants and 177 controls. Of 98 women with pre-eclampsia, 24 women developed preterm pre-eclampsia (diagnosis factors.

  15. Genetic and epigenetic factors: Role in male infertility

    Directory of Open Access Journals (Sweden)

    M B Shamsi

    2011-01-01

    Full Text Available Genetic factors contribute upto 15%-30% cases of male infertility. Formation of spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic differentiation phases each of which is controlled by an intricate genetic program. Genes control a variety of physiologic processes, such as hypothalamus-pituitary-gonadal axis, germ cell development, and differentiation. In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.

  16. Case-control studies in neurosurgery.

    Science.gov (United States)

    Nesvick, Cody L; Thompson, Clinton J; Boop, Frederick A; Klimo, Paul

    2014-08-01

    Observational studies, such as cohort and case-control studies, are valuable instruments in evidence-based medicine. Case-control studies, in particular, are becoming increasingly popular in the neurosurgical literature due to their low cost and relative ease of execution; however, no one has yet systematically assessed these types of studies for quality in methodology and reporting. The authors performed a literature search using PubMed/MEDLINE to identify all studies that explicitly identified themselves as "case-control" and were published in the JNS Publishing Group journals (Journal of Neurosurgery, Journal of Neurosurgery: Pediatrics, Journal of Neurosurgery: Spine, and Neurosurgical Focus) or Neurosurgery. Each paper was evaluated for 22 descriptive variables and then categorized as having either met or missed the basic definition of a case-control study. All studies that evaluated risk factors for a well-defined outcome were considered true case-control studies. The authors sought to identify key features or phrases that were or were not predictive of a true case-control study. Those papers that satisfied the definition were further evaluated using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist. The search detected 67 papers that met the inclusion criteria, of which 32 (48%) represented true case-control studies. The frequency of true case-control studies has not changed with time. Use of odds ratios (ORs) and logistic regression (LR) analysis were strong positive predictors of true case-control studies (for odds ratios, OR 15.33 and 95% CI 4.52-51.97; for logistic regression analysis, OR 8.77 and 95% CI 2.69-28.56). Conversely, negative predictors included focus on a procedure/intervention (OR 0.35, 95% CI 0.13-0.998) and use of the word "outcome" in the Results section (OR 0.23, 95% CI 0.082-0.65). After exclusion of nested case-control studies, the negative correlation between focus on a procedure

  17. Maintaining genetic stability in a control flock of South African ...

    African Journals Online (AJOL)

    means of whole progeny and replacement groups for the measured characters ... The whole problem of the estimation of genetic change was ... that a genetic control flock is a segregating population in which ... 5,5 years, were divided into five equal groups by stratified ..... A note on tests of significance and optimal ex-.

  18. Comparison of prevalence of periodontal disease in women with polycystic ovary syndrome and healthy controls

    Directory of Open Access Journals (Sweden)

    Mohammad Ehsan Rahiminejad

    2015-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age, affecting 4-18% of them. Previous studies also showed that periodontal diseases are associated with different components of the metabolic syndrome. The aim of this study is to determine the association between PCOS and periodontal diseases. Materials and Methods: A total of 196 women (98 with PCOS and 98 healthy controls were enrolled. PCOS diagnosis was confirmed by history, clinical signs, physical examination, laboratory parameters, and ultrasound studies. Both cases and controls were examined by the same periodontist. Periodontal parameters including bleeding on probing (BOP, probing depth, clinical attachment loss (CAL, plaque index, and tooth loss were investigated in all participants. Pregnant women, smokers, individuals with a history of malignancy or osteoporosis, and those taking prophylactic antibiotics for dental procedures or receiving periodontal treatment during the 6-month period before examination were excluded. Data were analyzed using t-test, Chi-square test, and linear regression. Statistical significance was set at P < 0.05. Results: CAL and sites with BOP were significantly higher in women with PCOS (P < 0.05. However, no significant difference was observed in the tooth loss rate between PCOS and non-PCOS participants (P = 0.384. Conclusion: The prevalence of periodontal disease seems to be higher in women with PCOS. This may be related to the role of chronic systemic inflammation in the pathophysiology of both PCOS and periodontal diseases.

  19. Hepatitis C virus prevalence and genetic diversity among pregnant women in Gabon, central Africa

    Directory of Open Access Journals (Sweden)

    Mahé Antoine

    2008-06-01

    Full Text Available Abstract Background Hepatitis C virus (HCV infection is a major global public health problem in both developed and developing countries. The prevalence and genetic diversity of HCV in pregnant women in Gabon, central Africa, is not known. We therefore evaluated the prevalence and the circulating genotypes of HCV in a large population cohort of pregnant women. Methods Blood samples (947 were collected from pregnant women in the five main cities of the country. The prevalence was evaluated by two ELISA tests, and the circulating genotypes were characterized by sequencing and phylogenetic analysis. Results Twenty pregnant women (2.1% were infected with HCV. The seroprevalence differed significantly by region (p = 0.004 and increased significantly with age (p = 0.05, being 1.3% at 14–20 years, 1.1% at 21–25 years, 1.9% at 26–30 years, 4.1% at 31–35 years and 6.0% at > 35 years. Sequencing in the 5'-UTR and NS5B regions showed that the circulating strains belonged to genotypes 4 (4e and 4c. Conclusion We found that the HCV seroprevalence in pregnant women in Gabon is almost as high as that in other African countries and increases with age. Furthermore, only genotype 4 (4e and 4c was found. More extensive studies aiming to evaluate the prevalence and heterogeneity of HCV genotypes circulating in the general population of the country are needed.

  20. Association between ABO and Rh Blood Groups and Risk of Preeclampsia: A Case-Control Study from Iran.

    Science.gov (United States)

    Aghasadeghi, Firoozeh; Saadat, Mostafa

    2017-04-15

    Preeclampsia (PE) is a major cause of maternal and neonatal morbidity and mortality. There is a genetic component in the development of PE with estimated heritability around 0.47. Several studies have investigated the association between maternal ABO blood groups (OMIM 110300) and risk of PE, with contradictory results have emerged. Considering that there is no study in this filed from Iranian population, the present case-control study was carried out at Shiraz (south-west Iran). In this study 331 women; 121 pregnant with PE and 210 normotensive pregnant women were included. Using blood group O (for ABO blood groups) or Rh+ (for Rh blood groups) as a reference, odds ratios (ORs) and its 95% confidence intervals (95% CI) of PE risk were estimated from logistic regression analysis. Although the A (OR = 0.67, 95% CI = 0.39-1.17, P = 0.165), B (OR = 0.86, 95% CI = 0.48-1.53, P = 0.615) and AB (OR = 1.14, 95% CI = 0.37-3.45, P = 0.812) phenotypes showed lower risks compared with the O blood group, statistical analysis indicated that there was no significant association between ABO phenotypes and risk of PE. The frequency of Rh- phenotype was higher among PE patients compared with the control group. However, the association was not significant (OR = 1.79, 95% CI = 0.69-4.65, P = 0.229). Adjusted ORs for age of participants and parity did not change the above-mentioned associations. Our present findings indicate that there is no association between ABO and Rh blood groups and risk of PE in Iranian population.