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Sample records for family previously diagnosed

  1. [Prevalence of previously diagnosed diabetes mellitus in Mexico.

    Science.gov (United States)

    Rojas-Martínez, Rosalba; Basto-Abreu, Ana; Aguilar-Salinas, Carlos A; Zárate-Rojas, Emiliano; Villalpando, Salvador; Barrientos-Gutiérrez, Tonatiuh

    2018-01-01

    To compare the prevalence of previously diagnosed diabetes in 2016 with previous national surveys and to describe treatment and its complications. Mexico's national surveys Ensa 2000, Ensanut 2006, 2012 and 2016 were used. For 2016, logistic regression models and measures of central tendency and dispersion were obtained. The prevalence of previously diagnosed diabetes in 2016 was 9.4%. The increase of 2.2% relative to 2012 was not significant and only observed in patients older than 60 years. While preventive measures have increased, the access to medical treatment and lifestyle has not changed. The treatment has been modified, with an increase in insulin and decrease in hypoglycaemic agents. Population aging, lack of screening actions and the increase in diabetes complications will lead to an increase on the burden of disease. Policy measures targeting primary and secondary prevention of diabetes are crucial.

  2. Sudden unexpected death in children with a previously diagnosed cardiovascular disorder

    NARCIS (Netherlands)

    Polderman, Florens N.; Cohen, Joeri; Blom, Nico A.; Delhaas, Tammo; Helbing, Wim A.; Lam, Jan; Sobotka-Plojhar, Marta A.; Temmerman, Arno M.; Sreeram, Narayanswani

    2004-01-01

    BACKGROUND: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. OBJECTIVE: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death

  3. Sudden unexpected death in children with a previously diagnosed cardiovascular disorder

    NARCIS (Netherlands)

    Polderman, F.N.; Cohen, Joeri; Blom, N.A.; Delhaas, T.; Helbing, W.A.; Lam, J.; Sobotka-Plojhar, M.A.; Temmerman, Arno M.; Sreeram, N.

    2004-01-01

    Background: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. Objective: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death

  4. Choice of contraception after previous operative delivery at a family ...

    African Journals Online (AJOL)

    Choice of contraception after previous operative delivery at a family planning clinic in Northern Nigeria. Amina Mohammed‑Durosinlorun, Joel Adze, Stephen Bature, Caleb Mohammed, Matthew Taingson, Amina Abubakar, Austin Ojabo, Lydia Airede ...

  5. A systematic review of the literature on family functioning across all eating disorder diagnoses in comparison to control families.

    Science.gov (United States)

    Holtom-Viesel, Anita; Allan, Steven

    2014-02-01

    The objectives of this review were to systematically identify and evaluate quantitative research comparing family functioning (a) in eating disorder families with control families, (b) in families with different eating disorder diagnoses (c) perceptions of different family members and (d) the relationship between family functioning and recovery. This adds to the findings of previous reviews of family functioning by including data from control families, the range of diagnoses, and focusing on recovery. Findings were considered in relation to models of family functioning. Using specific search criteria, 17 research papers were identified and evaluated. Findings indicated that eating disorder families reported worse family functioning than control families but there was little evidence for a typical pattern of family dysfunction. A consistent pattern of family dysfunction for different diagnoses was not suggested but patients consistently rated their family as more dysfunctional than one or both of their parents. With respect to outcome and recovery, those with more positive perceptions of family functioning generally had more positive outcomes, irrespective of severity of eating disorder. Conclusions were limited by inconsistent findings and methodological issues. Further research is needed into the relationship between family functioning and outcome and the assessment of family functioning beyond self-report. © 2013.

  6. Choice of contraception after previous operative delivery at a family ...

    African Journals Online (AJOL)

    Materials and Methods: A retrospective study was conducted at the Barau Dikko Teaching Hospital from 1st January, 2000 .... tertiary healthcare centers, they can access family planning ... those of higher parity may have opted for sterilization.

  7. CLINICAL AND FAMILY PROFILE OF PATIENTS DIAGNOSED WITH KERATOCONUS

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    Kalpana

    2015-03-01

    Full Text Available PURPOSE: To screen the first degree relatives of patient diagnosed with keratoconus . MATERIALS AND METHODS : All the patients included in the study, patient details were taken which included - name, age, gender, hospital number, address and family history [pedigree tree] . All the patients underwent refraction, best corrected visual acuity, colour vision , keratometry, intraocular pressure measurement and corneal topography [orbscan]. Family screening was done, which included - refraction, best corrected visual acuity, colour vision, keratometry, intraocular pressure and corneal topography [orbscan]. RESULTS: In this study of 40 eyes, 24 eyes [Right eyes - 12 & Left eyes - 12] i.e. 60% have keratoconus, 3 eyes [2 - Right eyes & 1 - Left eye] i.e.15% have advanced keratoconus, 12 eyes [Right eye - 6 & Left eye - 6] i.e. 30% have VKC & Keratoconus, 1 eye have acute hydrops. Total family members screened 55, out of that 17 members are fathers, 20 members are mothers, 12 members are brothers and 6 are sisters

  8. Patient/Family Education for Newly Diagnosed Pediatric Oncology Patients.

    Science.gov (United States)

    Landier, Wendy; Ahern, JoAnn; Barakat, Lamia P; Bhatia, Smita; Bingen, Kristin M; Bondurant, Patricia G; Cohn, Susan L; Dobrozsi, Sarah K; Haugen, Maureen; Herring, Ruth Anne; Hooke, Mary C; Martin, Melissa; Murphy, Kathryn; Newman, Amy R; Rodgers, Cheryl C; Ruccione, Kathleen S; Sullivan, Jeneane; Weiss, Marianne; Withycombe, Janice; Yasui, Lise; Hockenberry, Marilyn

    There is a paucity of data to support evidence-based practices in the provision of patient/family education in the context of a new childhood cancer diagnosis. Since the majority of children with cancer are treated on pediatric oncology clinical trials, lack of effective patient/family education has the potential to negatively affect both patient and clinical trial outcomes. The Children's Oncology Group Nursing Discipline convened an interprofessional expert panel from within and beyond pediatric oncology to review available and emerging evidence and develop expert consensus recommendations regarding harmonization of patient/family education practices for newly diagnosed pediatric oncology patients across institutions. Five broad principles, with associated recommendations, were identified by the panel, including recognition that (1) in pediatric oncology, patient/family education is family-centered; (2) a diagnosis of childhood cancer is overwhelming and the family needs time to process the diagnosis and develop a plan for managing ongoing life demands before they can successfully learn to care for the child; (3) patient/family education should be an interprofessional endeavor with 3 key areas of focus: (a) diagnosis/treatment, (b) psychosocial coping, and (c) care of the child; (4) patient/family education should occur across the continuum of care; and (5) a supportive environment is necessary to optimize learning. Dissemination and implementation of these recommendations will set the stage for future studies that aim to develop evidence to inform best practices, and ultimately to establish the standard of care for effective patient/family education in pediatric oncology.

  9. Resilience in families in which a member has been diagnosed with schizophrenia.

    Science.gov (United States)

    Bishop, M; Greeff, A P

    2015-09-01

    Due to the extensive focus of the literature on the burden placed on families in which a member has been diagnosed with a mental illness such as schizophrenia, there is a need to identify factors that may help these families to be resilient and adapt to their crisis. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The study comprised 42 families, represented by 33 parents and 9 siblings of the diagnosed family member. Families were recruited from three support groups within the Cape Metropolitan area, Western Cape, South Africa. Qualitative data were obtained through an open-ended question and quantitative data were collected with seven self-report questionnaires. The following family resilience qualities were identified: family income; finding support in their community; family togetherness; family communication style during crises; affirming and supportive communication patterns; family hardiness; commitment to the family; reframing crises as a challenge; and an internal locus of control within the family. The findings may be used by professionals and support group facilitators to enhance the resilience and functioning of families living with a member with schizophrenia. With approximately 1% of the world's population diagnosed with schizophrenia, it is clear that many families are affected when a member has been diagnosed. There is a need to identify factors that may help these families to be resilient. The aim of this study was to identify family resilience qualities in families in which a member has been diagnosed with schizophrenia. The following family resilience qualities were identified as resources that helped them to adapt to the many challenges put to them: family income, finding support in their community, the availability of hospitals, churches and professionals, family togetherness, family communication, family hardiness, commitment to the family, reframing crises

  10. Costs and Benefits of Diagnosing Familial Breast Cancer

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    Ketil Heimdal

    1999-01-01

    Full Text Available Based on results from our surveillance program for women at risk for inherited breast cancer, we have calculated cost per year earned. Norwegian National Insurance Service reimbursement fees were used in the calculations. The calculated costs are based on empirical figures for expanding already established medical genetic departments and diagnostic outpatient clinics to undertake the work described. Cost per year earned was estimated at Euro 753 using our current practice of identifying the high-risk women through a traditional cancer family clinic.

  11. Do attitudes of families concerned influence features of children who claim to remember previous lives?

    Science.gov (United States)

    Pasricha, Satwant K

    2011-01-01

    Reported cases of nearly 2600 children (subjects) who claim to remember previous lives have been investigated in cultures with and without belief in reincarnation. The authenticity in most cases has been established. To study the influence of attitudes of parents of the subjects, families of the deceased person with whom they are identified and attention paid by others on the features of the cases. The study is based on field investigations. Data is derived from analysis of a larger series of an ongoing project. Information on initial and subsequent attitudes of subjects' mothers was available for 292 and 136 cases, respectively; attitudes of 227 families of deceased person (previous personality) with whom he is identified, and the extent of attention received from outsiders for 252 cases. Observations and interviews with multiple firsthand informants on both sides of the case as well as some neutral informants supplemented by examination of objective data were the chief methods of investigation. The initial attitude of mothers varied from encouragement (21%) to neutral or tolerance (51%) to discouragement (28%). However, it changed significantly from neutrality to taking measures to induce amnesia in their children for previous life memories due to various psychosocial pressures and prevalent beliefs. Families of the previous personalities, once convinced, showed complete acceptance in a majority of cases. Outside attention was received in 58% cases. The positive attitude of parents might facilitate expression of memories but subsequently attitudes of persons concerned do not seem to alter features of the cases.

  12. Anterior Cutaneous Nerve Entrapment Syndrome in a Pediatric Patient Previously Diagnosed With Functional Abdominal Pain: A Case Report.

    Science.gov (United States)

    DiGiusto, Matthew; Suleman, M-Irfan

    2018-03-23

    Chronic abdominal pain is common in children and adolescents but challenging to diagnose, because practitioners may be concerned about missing serious occult disease. Abdominal wall pain is an often ignored etiology for chronic abdominal pain. Anterior cutaneous nerve entrapment syndrome causes abdominal wall pain but is frequently overlooked. Correctly diagnosing patients with anterior cutaneous nerve entrapment syndrome is important because nerve block interventions are highly successful in the remittance of pain. Here, we present the case of a pediatric patient who received a diagnosis of functional abdominal pain but experienced pain remittance after receiving a trigger-point injection and transverse abdominis plane block.

  13. Differences between previously married and never married 'gay' men: family background, childhood experiences and current attitudes.

    Science.gov (United States)

    Higgins, Daryl J

    2004-01-01

    Despite a large body of literature on the development of sexual orientation, little is known about why some gay men have been (or remain) married to a woman. In the current study, a self-selected sample of 43 never married gay men ('never married') and 26 gay men who were married to a woman ('previously married') completed a self-report questionnaire. Hypotheses were based on five possible explanations for gay men's marriages: (a) differences in sexual orientation (i.e., bisexuality); (b) internalized homophobia; (c) religious intolerance; (d) confusion created because of childhood/adolescent sexual experiences; and/or (e) poor psychological adjustment. Previously married described their families' religious beliefs as more fundamentalist than never married. No differences were found between married' and never married' ratings of their sexual orientation and identity, and levels of homophobia and self-depreciation. Family adaptability and family cohesion and the degree to which respondents reported having experienced child maltreatment did not distinguish between previously married and never married. The results highlight how little is understood of the reasons why gay men marry, and the need to develop an adequate theoretical model.

  14. Siblings’ Perceptions of Their ADHD-Diagnosed Sibling’s Impact on the Family System

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    Kerry King

    2016-09-01

    Full Text Available This qualitative study explored siblings’ perceptions of the impact a sibling diagnosed with ADHD has within the family system. Specific focus was placed on the different ways these different sibling cohorts were parented. Participants constituted eight adult females with a mean age of 20 years from different cultural and socio-economic backgrounds in the province of Gauteng, South Africa. Data was collected using semi-structured interviews and was analysed thematically. The four themes that emerged from the interviews include differential parental treatment, rejection, discrepancy with discipline, and the parentified child. Specifically, the results of this study revealed feelings of differential parental treatment and discipline that took place in the home and rejection experienced by the non-ADHD sibling. There was also a common theme of a parentified child, who had to carry a burden of caring for their sibling with ADHD. The non-diagnosed siblings perceive themselves to be particularly negatively impacted. The results are discussed in light of the previous empirical studies, and recommendations are made.

  15. Newly diagnosed and previously known diabetes mellitus and 1-year outcomes of acute myocardial infarction: the VALsartan In Acute myocardial iNfarcTion (VALIANT) trial

    DEFF Research Database (Denmark)

    Aguilar, David; Solomon, Scott D; Køber, Lars

    2004-01-01

    cardiovascular events associated with previously known and newly diagnosed diabetes by studying 14,703 patients with acute MI enrolled in the VALsartan In Acute myocardial iNfarcTion (VALIANT) trial. Patients were grouped by diabetic status: previously known diabetes (insulin use or diagnosis of diabetes before...

  16. Determination of Nursing Diagnoses in Children of Agricultural Laborer Families in South Eastern Regions of Turkey.

    Science.gov (United States)

    Karatas, Hulya; Müller-Staub, Maria; Erdemir, Firdevs

    2018-01-01

    Identifying functional health patterns and nursing diagnoses of migrant agricultural laborer families. Interpretative-qualitative study based on interviews with 162 mothers of 0- to 2-year-old children in two Turkish provinces. Health perception-health management: growth and development, risk for being delayed; health maintenance, ineffective; health behavior, risk-prone; risk for contamination; risk for sudden infant death syndrome; and risk for injury. Nutritional-metabolic: Risk for infection; and breastfeeding, interrupted. Self-perception: risk for chronic low self-esteem, disturbed self-esteem; and powerlessness. Role-relationship: impaired parenting; and dysfunctional family process. Coping-stress tolerance: coping, disabled family; violence, risk for other-directed. Cognitive-perceptive: knowledge deficit CONCLUSIONS: Nursing diagnoses of this population were reported for the first time. Addressing agricultural laborer families' diagnoses will positively affect maternal-child health. © 2016 NANDA International, Inc.

  17. Pathological gambling: comorbid psychiatric diagnoses in patients and their families.

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    Dannon, Pinhas N; Lowengrub, Katherine; Aizer, Anat; Kotler, Moshe

    2006-01-01

    Pathological gambling is a highly prevalent and disabling impulse control disorder. Recent studies have consistently demonstrated that pathological gamblers respond well to treatment with selective serotonin reuptake inhibitors, mood stabilizers and opioid antagonists. These findings have supported the observation that pathological gambling is associated with anxiety and mood spectrum disorders as well as addictive disorders. Fifty-two male pathological gamblers and their first-degree relatives (n=93) completed a semi-structured DSM-IV-based diagnostic interview as well as a series of data collection instruments including the South Oaks Gambling Scale, the Hamilton Rating Scale for Depression, the Hamilton Rating Scale for Anxiety, the Yale-Brown Obsessive-Compulsive Scale, and the Young Mania Rating Scale. The study subjects and their first-degree relative were compared to demographically matched normal controls (n=96). We found higher prevalence of alcohol, substance abuse, problematic gambling, depression, and anxiety disorders in the pathological gamblers and their first-degree relatives than in the control group. In particular, the scores on the Hamilton Rating Scale for Depression, the Hamilton Rating Scale for Anxiety, and the Yale-Brown Obsessive-Compulsive Scale were higher in the study group than in the control group. Our finding of a high prevalence of psychiatric comorbidity in pathological gamblers and their families raises the question of the proper classification of pathological gambling in the DSM-IV. Furthermore, the pattern of psychiatric disorders seen in the first-degree relatives can lead to new insights about the etiopathology of pathological gambling.

  18. [A family history of renal lithiasis in children diagnosed of urinary tract infection by Escherichia coli].

    Science.gov (United States)

    García Nieto, Víctor; Sotoca Fernández, Jorge; O'Hagan, Monica; Arango Sancho, Pedro; Luis Yanes, Maria Isabel

    2018-04-01

    Urinary tract infections (UTI) caused by Escherichia coli (E. coli) are common in patients with idiopathic hypercalciuria. As both UTI and hypercalciuria (prelithiasis) have a genetic basis, we wanted to know whether the family history of urolithiasis is more common in children with UTIs caused by E. coli. Secondarily, we wondered if the renal scars are more common in children with prelithiasis. Ambispective study with collected data from 104 patients (40 male, 64 female) followed after having been diagnosed of UTI by E. coli at least once. These patients were asked about the existence of urolithiasis in relatives. The calcium and citrate urinary elimination was qunatified in 80 children. In the total sample, family history was positive for urolithiasis in a significantly higher frequency in those children (n=71; 68.3%) than in the control population in our area (29.7%; previously published data). Prelithiasis frequency in children with UTI was 47.5% (38/80). An association was observed between the diagnosis of prelithiasis both with family history of urolithiasis (P=.030) and the diagnosis of vesicoureteral reflux (P=.034). Children who developed renal scarring had an increased risk of prelithiasis (OR 5.3; P=.033). The frequency of family history of urolithiasis in children with UTI caused by E. coli is very high. Based on our results we hypothesize that the predisposition to lithiasis can involve a constitutively altered defense to E. coli and, therefore, a greater possibility for renal scars. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Retrospective review of previous minor leak before major subarachnoid hemorrhage diagnosed by MRI as a predictor of occurrence of symptomatic delayed cerebral ischemia.

    Science.gov (United States)

    Oda, Shinri; Shimoda, Masami; Hirayama, Akihiro; Imai, Masaaki; Komatsu, Fuminari; Shigematsu, Hideaki; Nishiyama, Jun; Hotta, Kazuko; Matsumae, Mitsunori

    2018-02-01

    OBJECTIVE This study attempted to determine whether a previous minor leak correlated with the occurrence of symptomatic delayed cerebral ischemia (sDCI). METHODS The authors retrospectively evaluated sDCI-related clinical features and findings from MRI, including T1-weighted imaging (T1WI)-FLAIR mismatch at the time of admission, in 151 patients admitted with subarachnoid hemorrhage (SAH) within 48 hours of ictus. RESULTS The overall incidence of sDCI was 23% (35 of 151 patients). In all subjects, multivariate analysis revealed that World Federation of Neurosurgical Societies Grades II-V, age 70 years or older, presence of rebleeding after admission, a previous minor leak before the major SAH attack as diagnosed by T1WI-FLAIR mismatch, acute infarction on diffusion-weighted imaging, and CT SAH score were significantly associated with occurrence of sDCI. In patients with no previous minor leak before major SAH as diagnosed by T1WI-FLAIR mismatch, the incidence of sDCI was only 7% (7 of 97 patients). CONCLUSIONS A previous minor leak before major SAH as diagnosed by T1WI-FLAIR mismatch represents an important sDCI-related factor. When the analysis was restricted to patients with true acute SAH without a previous minor leak diagnosed by T1WI-FLAIR mismatch, the incidence of sDCI was extremely low.

  20. In Asian americans, is having a family member diagnosed with cancer associated with fatalistic beliefs?

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    Carolee Polek

    2016-01-01

    Full Text Available Objective: Cancer can evoke long-held cultural beliefs which either facilitate or impede efforts to expand the health literacy of families. Among these beliefs is fatalism which holds that controlling ones′ outcome is not possible, and that ones′ outcome is predestined. Some fatalistic beliefs are broadly held within the Asian American (AA community and may be challenged or reinforced by the experience of having a family member diagnosed with cancer. This study evaluated the relationship between having a family member diagnosed with cancer and selected demographics in AAs on fatalistic beliefs. Methods: Data from 519 AA subjects from the Centers for Disease Control and Prevention Health Information Trends Survey were used to complete a secondary analysis. Descriptive statistics characterize fatalistic beliefs. Four models using four questions assessed fatalistic beliefs as dependent variables and independent variables of having or not having a family member diagnosed with cancer, completing college or not, sex, and age were assessed using ordinal regression. Results: All of the fatalistic beliefs examined were endorsed by large portions of the subjects. When considering the role of being exposed to having a family member with cancer, it was associated with an increase in the likelihood in a belief that one is likely to get cancer, and everything can cause cancer. Being exposed to a family member diagnosed with cancer was not significantly associated with believing, there was little one could do to control their cancer risk. This belief was broadly rejected. While the belief that there are so many different recommendations about preventing cancer, it is hard to know what to do, was broadly endorsed and not associated with having a family member diagnosed with cancer. Conclusions: The major practice implications within oncology nursing suggest the importance in assessing cancer health literacy and providing corrective knowledge in families

  1. Is parental competitive ability in winter negatively affected by previous springs' family size?

    Science.gov (United States)

    Fokkema, Rienk W; Ubels, Richard; Tinbergen, Joost M

    2017-03-01

    Reproductive behavior cannot be understood without taking the local level of competition into account. Experimental work in great tits ( Parus major ) showed that (1) a survival cost of reproduction was paid in environments with high levels of competition during the winter period and (2) experimentally manipulated family size negatively affected the ability of parents to compete for preferred breeding boxes in the next spring. The fact that survival was affected in winter suggests that the competitive ability of parents in winter may also be affected by previous reproductive effort. In this study, we aim to investigate whether (1) such carryover effects of family size on the ability of parents to compete for resources in the winter period occurred and (2) this could explain the occurrence of a survival cost of reproduction under increased competition. During two study years, we manipulated the size of in total 168 great tit broods. Next, in winter, we induced competition among the parents by drastically reducing the availability of roosting boxes in their local environment for one week. Contrary to our expectation, we found no negative effect of family size manipulation on the probability of parents to obtain a roosting box. In line with previous work, we did find that a survival cost of reproduction was paid only in plots in which competition for roosting boxes was shortly increased. Our findings thus add to the scarce experimental evidence that survival cost of reproduction are paid under higher levels of local competition but this could not be linked to a reduced competitive ability of parents in winter.

  2. Family Members of Cancer Patients in Korea Are at an Increased Risk of Medically Diagnosed Depression

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    Youngdae Cho

    2018-03-01

    Full Text Available Objectives Family members are often cancer patients’ primary source of social and emotional support and make a major contribution to how well patients manage their illness. We compared the prevalence of depression in the family members of cancer patients and the general population. Methods This study used the data from the fourth, fifth, and sixth rounds of the Korea National Health and Nutrition Examination Survey. The variable of interest was the presence of a cohabitating cancer patient in the family and the dependent variable was the presence of diagnosed depression. Results The odds of having medically diagnosed depression in those with a cohabitating cancer patient in the family were significantly higher than among those who did not have cancer patients in their families (odds ratio [OR], 1.56; 95% confidence interval [CI], 1.12 to 2.17; p=0.009. The OR for females was 1.59, and this increase was statistically significant (95% CI, 1.09 to 2.31; p=0.02. Conclusions We need to invest more effort into diagnosing and managing depression in the family members of cancer patients. This will have an impact both on their quality of life and on the well-being of patients, as supporters and caregivers play an instrumental role in helping patients manage their illness.

  3. A prospective study to determine the costs incurred by families of children newly diagnosed with cancer in Ontario.

    Science.gov (United States)

    Tsimicalis, Argerie; Stevens, Bonnie; Ungar, Wendy J; McKeever, Patricia; Greenberg, Mark; Agha, Mohammad; Guerriere, Denise; Barr, Ronald; Naqvi, Ahmed; Moineddin, Rahim

    2012-10-01

    A diagnosis of cancer in childhood places a considerable economic burden on families, although costs are not well described. The objectives of this study were to identify and determine independent predictors of the direct and time costs incurred by such families. A prospective, cost-of-illness study was conducted in families of children newly diagnosed with cancer. Parents recorded the resources consumed and costs incurred during 1 week per month for three consecutive months beginning the fourth week following diagnosis and listed any additional costs incurred since then. Descriptive and multiple regression analyses were performed to describe families' costs (expressed in 2007 Canadian dollars) and to determine direct and time cost predictors. In total, 28 fathers and 71 mothers participated. The median total direct and time costs in 3 months were $CAD3503 and $CAD23 130, respectively, per family. The largest component of direct costs was travel and of time costs was time allocated previously for unpaid activities. There were no statistically significant predictors of direct costs. Six per cent of the variance for time costs was explained by language spoken at home. Families of children with cancer are confronted with a wide range of direct and time costs, the largest being travel and time allocated previously for unpaid activities. Copyright © 2011 John Wiley & Sons, Ltd.

  4. Do family physicians retrieve synopses of clinical research previously read as email alerts?

    Science.gov (United States)

    Grad, Roland; Pluye, Pierre; Johnson-Lafleur, Janique; Granikov, Vera; Shulha, Michael; Bartlett, Gillian; Marlow, Bernard

    2011-11-30

    A synopsis of new clinical research highlights important aspects of one study in a brief structured format. When delivered as email alerts, synopses enable clinicians to become aware of new developments relevant for practice. Once read, a synopsis can become a known item of clinical information. In time-pressured situations, remembering a known item may facilitate information retrieval by the clinician. However, exactly how synopses first delivered as email alerts influence retrieval at some later time is not known. We examined searches for clinical information in which a synopsis previously read as an email alert was retrieved (defined as a dyad). Our study objectives were to (1) examine whether family physicians retrieved synopses they previously read as email alerts and then to (2) explore whether family physicians purposefully retrieved these synopses. We conducted a mixed-methods study in which a qualitative multiple case study explored the retrieval of email alerts within a prospective longitudinal cohort of practicing family physicians. Reading of research-based synopses was tracked in two contexts: (1) push, meaning to read on email and (2) pull, meaning to read after retrieval from one electronic knowledge resource. Dyads, defined as synopses first read as email alerts and subsequently retrieved in a search of a knowledge resource, were prospectively identified. Participants were interviewed about all of their dyads. Outcomes were the total number of dyads and their type. Over a period of 341 days, 194 unique synopses delivered to 41 participants resulted in 4937 synopsis readings. In all, 1205 synopses were retrieved over an average of 320 days. Of the 1205 retrieved synopses, 21 (1.7%) were dyads made by 17 family physicians. Of the 1205 retrieved synopses, 6 (0.5%) were known item type dyads. However, dyads also occurred serendipitously. In the single knowledge resource we studied, email alerts containing research-based synopses were rarely retrieved

  5. Previous experience of family violence and intimate partner violence in pregnancy.

    Science.gov (United States)

    Ludermir, Ana Bernarda; Araújo, Thália Velho Barreto de; Valongueiro, Sandra Alves; Muniz, Maria Luísa Corrêa; Silva, Elisabete Pereira

    2017-01-01

    To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18-49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89-3.63) and in adolescence (OR = 1.47; 95%CI 1.01-2.13), sexual violence in childhood (OR = 3.28; 95%CI 1.68-6.38) and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 - 2.12). The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43-3.02) and adolescence (OR = 1.63; 95%CI 1.07-2.47), who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86-8.27), and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57-16.45). Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help policymakers and health service managers to develop intervention strategies.

  6. Previous experience of family violence and intimate partner violence in pregnancy

    Directory of Open Access Journals (Sweden)

    Ana Bernarda Ludermir

    2017-09-01

    Full Text Available ABSTRACT OBJECTIVE To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. METHODS A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18–49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. RESULTS Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89–3.63 and in adolescence (OR = 1.47; 95%CI 1.01–2.13, sexual violence in childhood (OR = 3.28; 95%CI 1.68–6.38 and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 – 2.12. The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43–3.02 and adolescence (OR = 1.63; 95%CI 1.07–2.47, who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86–8.27, and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57–16.45. CONCLUSIONS Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help

  7. Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

    Directory of Open Access Journals (Sweden)

    Gonca Keskindemirci

    2014-01-01

    Full Text Available Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.

  8. Effects of Family Violence on Psychopathology Symptoms in Children Previously Exposed to Maltreatment

    Science.gov (United States)

    Maikovich, Andrea Kohn; Jaffee, Sara R.; Odgers, Candice L.; Gallop, Robert

    2008-01-01

    Although many studies suggest that family violence is associated with child psychopathology, multiple features of the home environment might account for this association, such as poverty and caregiver psychopathology. Studies are needed examining how change in psychopathology symptoms is affected by home violence, controlling for children's own…

  9. The family roles of siblings of people diagnosed with a mental disorder: heroes and lost children.

    Science.gov (United States)

    Sanders, Avihay; Szymanski, Kate; Fiori, Kate

    2014-08-01

    In order to cope with the diagnosis of mental illness in a family member, siblings may be forced to adjust their roles in the family. Taking into account the crucial role that some siblings play in caregiving for the mentally ill especially when the parents are no longer available, it is imperative to develop awareness of their unique needs and address them. Thirty-three adult siblings of people diagnosed with a mental disorder completed the Role Behaviour Inventory (RBI) and a general questionnaire including open-ended questions regarding the roles they played in their families of origin. Findings from the inventory and general questionnaire suggest that the well siblings score higher on two roles, the Hero and Lost Child, and lower on the Mascot and Scapegoat roles relative to a comparison group (N = 33). Being a sibling caregiver emerged as a risk factor to assume certain dysfunctional roles in the family. Implications for future research and therapy are discussed. © 2013 International Union of Psychological Science.

  10. Molecular analysis of clinical isolates previously diagnosed as Mycobacterium intracellulare reveals incidental findings of "Mycobacterium indicus pranii" genotypes in human lung infection.

    Science.gov (United States)

    Kim, Su-Young; Park, Hye Yun; Jeong, Byeong-Ho; Jeon, Kyeongman; Huh, Hee Jae; Ki, Chang-Seok; Lee, Nam Yong; Han, Seung-Jung; Shin, Sung Jae; Koh, Won-Jung

    2015-09-30

    Mycobacterium intracellulare is a major cause of Mycobacterium avium complex lung disease in many countries. Molecular studies have revealed several new Mycobacteria species that are closely related to M. intracellulare. The aim of this study was to re-identify and characterize clinical isolates from patients previously diagnosed with M. intracellulare lung disease at the molecular level. Mycobacterial isolates from 77 patients, initially diagnosed with M. intracellulare lung disease were re-analyzed by multi-locus sequencing and pattern of insertion sequences. Among the 77 isolates, 74 (96 %) isolates were designated as M. intracellulare based on multigene sequence-based analysis. Interestingly, the three remaining strains (4 %) were re-identified as "Mycobacterium indicus pranii" according to distinct molecular phylogenetic positions in rpoB and hsp65 sequence-based typing. In hsp65 sequevar analysis, code 13 was found in the majority of cases and three unreported codes were identified. In 16S-23S rRNA internal transcribed spacer (ITS) sequevar analysis, all isolates of both species were classified within the Min-A ITS sequevar. Interestingly, four of the M. intracellulare isolates harbored IS1311, a M. avium-specific element. Two of three patients infected with "M. indicus pranii" had persistent positive sputum cultures after antibiotic therapy, indicating the clinical relevance of this study. This analysis highlights the importance of precise identification of clinical isolates genetically close to Mycobacterium species, and suggests that greater attention should be paid to nontuberculous mycobacteria lung disease caused by "M. indicus pranii".

  11. Assessment of Compliance to Treatment of Diabetes and Hypertension amongst Previously Diagnosed Patients from Rural Community of Raigad District of Maharashtra.

    Science.gov (United States)

    Kakumani, Kiranmayi Venkata; Waingankar, Prasad

    2016-12-01

    Substantial burden of diabetes and hypertension is on rise in India, leading to a twin epidemic. India, being a rural country, has unique problems regarding the treatment compliance which is a serious risk for morbidity and mortality. To assess the compliance to treatment of hypertension and diabetes amongst the diagnosed patients from rural area and to study reasons of non-compliance and knowledge and attitude. Community based, cross sectional, observational study conducted in the rural communities of Tara and Barapada villages of Raigad district of Maharashtra. Survey was conducted covering population of 2115 across 360 families, 250 at Barapada and 110 at Tara. All the cases of diabetes and hypertension diagnosed for more than one year were included. A structured and pre-tested questionnaire was administered including details on demography, medical documentation, treatment details and factors assessing the compliance, knowledge and attitude towards the diseases. When reviewed the treatment adherence pattern based on documentary evidence and interview of the patient, on history of taking medication strictly since the detection illness, it was found that more than 70% of the Diabetics and more than 75% of the Hypertensive have discontinued the treatment in between. The most common reasons of non-compliance is the lack of sufficient motivation for treatment adherence as many mentioned (61.4% diabetics, 55.8% hypertensives) difficulty to remember to take daily medication due to work or forgetfulness. This is followed by lack of money (50%diabetics, 55.8% hypertensives) and living far away from doctor in city (43% diabetics and 46% hypertensives). The study findings are only tip of iceberg and the non-adherence to the treatment of diabetes and hypertension in rural population is at alarmingly high. Illiteracy, lack of faith in treatment and motivation, unawareness and self-neglect as well as financial constraints and lack of specialist care in rural area is playing

  12. Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

    International Nuclear Information System (INIS)

    Ng, B.H.K.; Pereira, J.K.; Ghedia, S.; Pinner, J.; Mowat, D.; Vonau, M.

    2006-01-01

    Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease

  13. Accuracy of the QuantiFERON-TB Gold in Tube for diagnosing tuberculosis in a young pediatric population previously vaccinated with Bacille Calmette-Guerin

    Directory of Open Access Journals (Sweden)

    Marcelo Genofre Vallada

    2014-03-01

    Full Text Available Objective: To evaluate the accuracy of an interferongamma release assay (QuantiFERON-TB Gold in Tube for diagnosing Mycobacterium tuberculosis infection in a young pediatric population. Methods: 195 children previously vaccinated with BCG were evaluated, being 184 healthy individuals with no clinical or epidemiological evidence of mycobacterial infection, and 11 with Mycobacterium tuberculosis infection, according to clinical, radiological, and laboratory parameters. A blood sample was obtained from each child and processed according to the manufacturer's instructions. The assay performance was evaluated by a Receiver Operating Characteristic (ROC curve. Results: In the group of 184 non-infected children, 130 (70.6% were under the age of four years (mean age of 35 months. In this group, 177 children (96.2% had negative test results, six (3.2% had indeterminate results, and one (0.5% had a positive result. In the group of 11 infected children, the mean age was 58.5 months, and two of them (18% had negative results. The ROC curve had an area under the curve of 0.88 (95%CI 0.82-0.92; p<0.001, disclosing a predictive positive value of 81.8% for the test (95%CI 46.3-97.4. The assay sensitivity was 81.8% (95%CI 48.2-97.2 and the specificity was 98.8% (95%CI 96-99.8. Conclusions: In the present study, the QuantiFERON-TB Gold in Tube performance for diagnosing M. tuberculosis infection was appropriate in a young pediatric population.

  14. Phylogenetic relationships of seven previously unclassified viruses within the family Rhabdoviridae using partial nucleoprotein gene sequences.

    Science.gov (United States)

    Kuzmin, I V; Hughes, G J; Rupprecht, C E

    2006-08-01

    Partial nucleoprotein (N) gene sequences of the rhabdoviruses Obodhiang (OBOV), Kotonkon (KOTV), Rochambeau (RBUV), Kern canyon (KCV), Mount Elgon bat (MEBV), Kolongo (KOLV) and Sandjimba (SJAV) were generated and their phylogenetic positions within the family Rhabdoviridae were determined. Both OBOV and KOTV were placed within the genus Ephemerovirus. RBUV was joined to the same cluster, but more distantly. MEBV and KCV were grouped into a monophyletic cluster (putative genus) with Oita virus (OITAV). These three viruses, originating from different regions of the world, were all isolated from insectivorous bats and may be specific for these mammals. African avian viruses KOLV and SJAV were joined to each other and formed another clade at the genus level. Further, they were grouped with the recently characterized rhabdovirus Tupaia virus (TRV). Although the genetic distance was great, the grouping was supported by consistent bootstrap values. This observation suggests that viruses of this group may be distributed widely in the Old World. Non-synonymous/synonymous substitution ratio estimations (dN/dS) using a partial N gene fragment (241 codons) for the three rhabdovirus genera revealed contrasting patterns of evolution, where dN/dS values follow the pattern Ephemerovirus > Vesiculovirus > Lyssavirus. The magnitude of this ratio corresponds well with the number of negatively selected codons. The accumulation of dS appears evenly distributed along the gene fragment for all three genera. These estimations demonstrated clearly that lyssaviruses are subjected to the strongest constraints against amino acid substitutions, probably related to their particular niche and unique pathobiology.

  15. Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

    International Nuclear Information System (INIS)

    Cruz Marinno, Tania; Alvarez Cuesta, Jose Alberto; Aguilera Rodriguez, Raul; Velazquez Perez, Luis

    2011-01-01

    Friedreich's ataxia is characterized by age of onset before 25 years, progressive ataxia, dysarthria, absent deep tendon reflexes and impaired vibration sense. This research was conducted in order to describe the imaging features of central nervous system structures in the early Cuban families diagnosed with the disease. A team of 0.23 Tesla-PANORAMA-Phylips Medical Systems, with a standard head coil, axial slices were obtained using 5mm thick FLAIR sequences, T1 and T2, and sagittal T1 and T2 in three individuals with confirmatory molecular diagnosis of Friedreich's ataxia and six healthy controls matched by age and sex. The morphological structures most affected are the cervical spinal cord, cerebellum and pons, which provides in vivo evidence that the disease leads to atrophy of these structures

  16. Multiple sclerosis (MS) in the life cycle of the family: An interpretative phenomenological analysis of the perspective of persons with recently diagnosed MS.

    Science.gov (United States)

    de Ceuninck van Capelle, Archie; Visser, Leo H; Vosman, Frans

    2016-12-01

    In this study the authors explored how people with recently diagnosed multiple sclerosis (MS) experience their disease within their family lives. Ten people in various stages of the cycle of family life (leaving home, finding a partner, raising children, parenting adolescents, launching children) who had been diagnosed with MS were interviewed in half-structured conversational interviews. Transcriptions were analyzed following a phenomenological approach. Five themes were found: (a) dwindling capacity for housekeeping and childcare (b) struggling to ask for or to accept help, (c) countering awkward attitudes toward my illness, (d) suspecting family members of concealing their, and (e) watching family members wrestle with your illness. The participants described that their illness affected their ability to care for their family and home as they used to. Only a couple of studies have addressed the first person perspective of patients on family and MS. The study expands on these studies by exploring not previously examined perspectives on leaving home, finding a partner, parenting adolescents, and launching children. The findings on family and MS, approached as elements of the first person perspective of MS patients, may guide future research. Given the pivotal role of worries on family in patient experience of MS, we argue that acknowledgment of family as a constitutive element of the patient perspective should be integrated in regular MS care. The authors suggest that the clinical handling of MS as a family issue needs to be done thoughtfully and with attention to the specifics of each unique family situation. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  17. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

    2018-01-01

    The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

  18. Local heat stress and skin blood flowmotion in subjects with familial predisposition or newly diagnosed hypertension.

    Science.gov (United States)

    Gryglewska, Barbara; Nęcki, Mirosław; Cwynar, Marcin; Baron, Tomasz; Grodzicki, Tomasz

    2010-12-01

    The aim of the study was to investigate the skin microcirculation blood flow and flowmotion response to heat stress in normotensive subjects with familial predisposition to hypertension and in hypertensive patients. Normotensives without [NT(-)] or with [NT(+)] familial predisposition and subjects with newly diagnosed hypertension (HT) were studied. Clinic blood pressure (BP) measurements and ambulatory BP monitoring as well as laboratory assessments were performed. Resting (RF), heat (HF) and maximal heat (MHF) blood flows were measured using PeriFlux laser Doppler flowmetry (LDF) and expressed as absolute units (AU) and as index of cutaneous vascular conductance (CVC). Spectral analysis of the skin LDF signal was performed by means of the Perisoft dedicated software. Kruskall-Wallis analysis of variance, χ(2) statistic and multivariate reverse regression analysis were used for calculation. The studied population consisted of 70 persons (mean age 36.1 ± 10.3 years, 44.3% women): 17 NT(-), 22 NT(+) and 31 HT, age and gender matched. Higher values of body mass index (BMI), and insulin, glucose and triglyceride levels were observed in HT than in NT groups. RF, HF and MHF were similar in all study groups, but CVC of maximal heat flow differed (p=0.02); in particular, lower values were observed in the HT than in NT(-) group (p=0.01). The study groups differed with regard to total power (p=0.01) and myogenic (p=0.03) origin flowmotion with the lowest values in the NT(+) group. BMI and night BP characteristics were strong predictors of reduction of CVC, MHF and myogenic origin flowmotion. Skin microcirculation response to local heat stress is altered in hypertensive patients with decrease in maximal heat CVC values. Moreover, normotensive subjects with familial predisposition to hypertension are characterized by diminished myogenic origin of skin blood flowmotion.

  19. Familial occurrence of epilepsy in children with newly diagnosed multiple seizures : Dutch study of epilepsy in childhood

    NARCIS (Netherlands)

    Callenbach, PMC; Geerts, AT; Arts, WFM; van Donselaar, CA; Peters, A.C. Boudewyn; Stroink, H; Brouwer, OF

    Purpose: To study the familial occurrence of epilepsy in children with newly diagnosed multiple unprovoked seizures. Methods: Between August 1988 and September 1992, 462 children with two or more unprovoked seizures were included in the prospective Dutch Study of Epilepsy in Childhood. Seizures and

  20. Previously known and newly diagnosed atrial fibrillation: a major risk indicator after a myocardial infarction complicated by heart failure or left ventricular dysfunction

    DEFF Research Database (Denmark)

    Køber, Lars; Swedberg, Karl; McMurray, John J V

    2006-01-01

    AIMS: To characterize the relationship between known and newly diagnosed atrial fibrillation (AF) and the risk of death and major cardiovascular (CV) events in patients with acute myocardial infarction (MI) complicated by heart failure (HF) and/or left ventricular systolic dysfunction (LVSD). MET...

  1. A Questionnaire Study on the Attitudes and Previous Experience of Croatian Family Physicians toward their Preparedness for Disaster Management.

    Science.gov (United States)

    Pekez-Pavliško, Tanja; Račić, Maja; Jurišić, Dinka

    2018-04-01

    To explore family physicians' attitudes, previous experience and self-assessed preparedness to respond or to assist in mass casualty incidents in Croatia. The cross-sectional survey was carried out during January 2017. Study participants were recruited through a Facebook group that brings together family physicians from Croatia. They were asked to complete the questionnaire, which was distributed via google.docs. Knowledge and attitudes toward disaster preparedness were evaluated by 18 questions. Analysis of variance, Student t test and Kruskal-Wallis test t were used for statistical analysis. Risk awareness of disasters was high among respondents (M = 4.89, SD=0.450). Only 16.4 of respondents have participated in the management of disaster at the scene. The majority (73.8%) of physicians have not been participating in any educational activity dealing with disaster over the past two years. Family physicians believed they are not well prepared to participate in national (M = 3.02, SD=0.856) and local community emergency response system for disaster (M = 3.16, SD=1.119). Male physicians scored higher preparedness to participate in national emergency response system for disaster ( p =0.012), to carry out accepted triage principles used in the disaster situation ( p =0.003) and recognize differences in health assessments indicating potential exposure to specific agents ( p =0,001) compared to their female colleagues. Croatian primary healthcare system attracts many young physicians, who can be an important part of disaster and emergency management. However, the lack of experience despite a high motivation indicates a need for inclusion of disaster medicine training during undergraduate studies and annual educational activities.

  2. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  3. Identification of a previously undescribed divergent virus from the Flaviviridae family in an outbreak of equine serum hepatitis.

    Science.gov (United States)

    Chandriani, Sanjay; Skewes-Cox, Peter; Zhong, Weidong; Ganem, Donald E; Divers, Thomas J; Van Blaricum, Anita J; Tennant, Bud C; Kistler, Amy L

    2013-04-09

    Theiler's disease is an acute hepatitis in horses that is associated with the administration of equine blood products; its etiologic agent has remained unknown for nearly a century. Here, we used massively parallel sequencing to explore samples from a recent Theiler's disease outbreak. Metatranscriptomic analysis of the short sequence reads identified a 10.5-kb sequence from a previously undescribed virus of the Flaviviridae family, which we designate "Theiler's disease-associated virus" (TDAV). Phylogenetic analysis clusters TDAV with GB viruses of the recently proposed Pegivirus genus, although it shares only 35.3% amino acid identity with its closest relative, GB virus D. An epidemiological survey of additional horses from three separate locations supports an association between TDAV infection and acute serum hepatitis. Experimental inoculation of horses with TDAV-positive plasma provides evidence that several weeks of viremia preceded liver injury and that liver disease may not be directly related to the level of viremia. Like hepatitis C virus, the best characterized Flaviviridae species known to cause hepatitis, we find TDAV is capable of efficient parenteral transmission, engendering acute and chronic infections associated with a diversity of clinical presentations ranging from subclinical infection to clinical hepatitis.

  4. Kansas City Cardiomyopathy Questionnaire Score Is Associated With Incident Heart Failure Hospitalization in Patients With Chronic Kidney Disease Without Previously Diagnosed Heart Failure: Chronic Renal Insufficiency Cohort Study.

    Science.gov (United States)

    Mishra, Rakesh K; Yang, Wei; Roy, Jason; Anderson, Amanda H; Bansal, Nisha; Chen, Jing; DeFilippi, Christopher; Delafontaine, Patrice; Feldman, Harold I; Kallem, Radhakrishna; Kusek, John W; Lora, Claudia M; Rosas, Sylvia E; Go, Alan S; Shlipak, Michael G

    2015-07-01

    Chronic kidney disease is a risk factor for heart failure (HF). Patients with chronic kidney disease without diagnosed HF have an increased burden of symptoms characteristic of HF. It is not known whether these symptoms are associated with occurrence of new onset HF. We studied the association of a modified Kansas City Cardiomyopathy Questionnaire with newly identified cases of hospitalized HF among 3093 participants enrolled in the Chronic Renal Insufficiency Cohort (CRIC) Study who did not report HF at baseline. The annually updated Kansas City Cardiomyopathy Questionnaire score was categorized into quartiles (Q1-4) with the lower scores representing the worse symptoms. Multivariable-adjusted repeated measure logistic regression models were adjusted for demographic characteristics, clinical risk factors for HF, N-terminal probrain natriuretic peptide level and left ventricular hypertrophy, left ventricular systolic and diastolic dysfunction. Over a mean (±SD) follow-up period of 4.3±1.6 years, there were 211 new cases of HF hospitalizations. The risk of HF hospitalization increased with increasing symptom quartiles; 2.62, 1.85, 1.14, and 0.74 events per 100 person-years, respectively. The median number of annual Kansas City Cardiomyopathy Questionnaire assessments per participant was 5 (interquartile range, 3-6). The annually updated Kansas City Cardiomyopathy Questionnaire score was independently associated with higher risk of incident HF hospitalization in multivariable-adjusted models (odds ratio, 3.30 [1.66-6.52]; P=0.001 for Q1 compared with Q4). Symptoms characteristic of HF are common in patients with chronic kidney disease and are associated with higher short-term risk for new hospitalization for HF, independent of level of kidney function, and other known HF risk factors. © 2015 American Heart Association, Inc.

  5. Psychometric Properties of the Beach Center Family Quality of Life in French-Speaking Families With a Preschool-Aged Child Diagnosed With Autism Spectrum Disorder.

    Science.gov (United States)

    Rivard, Mélina; Mercier, Céline; Mestari, Zakaria; Terroux, Amélie; Mello, Catherine; Bégin, Jean

    2017-09-01

    The Beach Center Family Quality of Life Scale (Beach Center FQOL) is used to evaluate and develop family-centered intervention services. However, its use with families of children with autism spectrum disorder (ASD) and in non-English speaking populations requires further investigation. The present study sought to assess the psychometric properties of a French translation of this scale on 452 parents of children aged 5 and under who were recently diagnosed with ASD. The resulting Satisfaction and Importance scales presented excellent internal consistency at the scale level and acceptable internal consistency at the subscale level. Theoretical model positing 5 dimensions of FQOL generally fit the data acceptably. Satisfaction ratings were found to be sensitive to changes and were negatively correlated with parenting stress.

  6. Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

    International Nuclear Information System (INIS)

    Chawda, S.J.; Lange, R.P.J. de; St-Clair, D.; Hourihan, M.D.; Halpin, S.F.S.

    2000-01-01

    Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene. (orig.)

  7. The accuracy of family physicians' dementia diagnoses at different stages of dementia: a systematic review

    NARCIS (Netherlands)

    van den Dungen, Pim; van Marwijk, Harm W. M.; van der Horst, Henriëtte E.; Moll van Charante, Eric P.; Macneil Vroomen, Janet; van de Ven, Peter M.; van Hout, Hein P. J.

    2012-01-01

    Objective: Optimising care for dementia patients and their informal carers is imperative in light of the impending dementia epidemic. An important aspect of care is accurate recognition and diagnosis of dementia. The aim of this review was to estimate family physicians' diagnostic accuracy at the

  8. The accuracy of family physicians' dementia diagnoses at different stages of dementia: a systematic review

    NARCIS (Netherlands)

    van den Dungen, P.; van Marwijk, H.W.J.; van der Horst, H.E.; van Charante, E.P.M.; Vroomen, J.M.; van de Ven, P.M.; van Hout, H.P.J.

    2012-01-01

    Objective Optimising care for dementia patients and their informal carers is imperative in light of the impending dementia epidemic. An important aspect of care is accurate recognition and diagnosis of dementia. The aim of this review was to estimate family physicians' diagnostic accuracy at the

  9. Maladaptive schemas as mediators of the relationship between previous victimizations in the family and dating violence victimization in adolescents.

    Science.gov (United States)

    Calvete, Esther; Gámez-Guadix, Manuel; Fernández-Gonzalez, Liria; Orue, Izaskun; Borrajo, Erika

    2018-07-01

    This study examined whether exposure to family violence, both in the form of direct victimization and witnessing violence, predicted dating violence victimization in adolescents through maladaptive schemas. A sample of 933 adolescents (445 boys and 488 girls), aged between 13 and 18 (M = 15.10), participated in a three-year longitudinal study. They completed measures of exposure to family violence, maladaptive schemas of disconnection/rejection, and dating violence victimization. The findings indicate that witnessing family violence predicts the increase of dating violence victimization over time, through the mediation of maladaptive schemas in girls, but not in boys. Direct victimization in the family predicts dating violence victimization directly, without the mediation of schemas. In addition, maladaptive schemas contribute to the perpetuation of dating violence victimization over time. These findings provide new opportunities for preventive interventions, as maladaptive schemas can be modified. Copyright © 2018 Elsevier Ltd. All rights reserved.

  10. Diagnosis of hepatic iron overload: a family study illustrating pitfalls in diagnosing hemochromatosis.

    Science.gov (United States)

    Schranz, Melanie; Talasz, Heribert; Graziadei, Ivo; Winder, Thomas; Sergi, Consolato; Bogner, Klaus; Vogel, Wolfgang; Zoller, Heinz

    2009-03-01

    Recent identification of genetic variants in iron storage disease has changed the classification system and diagnostic algorithms for hemochromatosis. Clinical diagnosis of the disease requires phenotypic evidence of iron overload because the commonly disease-associated HFE genotypes have an incomplete penetrance. Furthermore, approximately 20% of patients with a clinical diagnosis of hemochromatosis have no disease-associated genotype, which underlines the importance of clear phenotypic criteria of hemochromatosis. A diagnosis of hemochromatosis cannot be made even in patients with liver cirrhosis simply on the basis of genetic testing that indicates that iron overload is the cause of the disease and not its consequence. Proper diagnosis requires integration of clinical presentation, family history, and the results of biochemical and histopathologic tests. Here we propose a rational diagnostic algorithm for hepatic iron overload syndromes and illustrate potential pitfalls by presenting a family study in a pedigree with rare HFE variants (H63D and E168Q), in cis on the same chromosome. Although the clinical suspicion of hemochromatosis was confirmed by histology, chemical analysis of liver tissue revealed a normal hepatic iron concentration, which is compatible with the genetic finding of 1 normal and 1 doubly mutated allele. In conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should prompt HFE genotyping for C282Y and H63D. Should they be uninformative, further genetic tests should be recommended only if iron overload in liver tissue has been confirmed chemically.

  11. Neighbourhood Deprivation, Individual-Level Familial and Socio-Demographic Factors and Diagnosed Childhood Obesity: A Nationwide Multilevel Study from Sweden

    Directory of Open Access Journals (Sweden)

    Xinjun Li

    2014-08-01

    Full Text Available Objectives: To examine whether there is an association between neighbourhood deprivation and diagnosed childhood obesity, after accounting for family- and individual-level socio-demographic characteristics. Methods: An open cohort of all children aged 0-14 years was followed between January 1, 2000 and December 31, 2010. Childhood residential locations were geocoded and classified according to neighbourhood deprivation. Data were analysed by multilevel logistic regression, with family- and individual-level characteristics at the first level and level of neighbourhood deprivation at the second level. Results: During the study period, among a total of 948,062 children, 10,799 were diagnosed with childhood obesity. Age-adjusted cumulative incidence for diagnosed childhood obesity increased with increasing level of neighbourhood deprivation. Incidence of diagnosed childhood obesity increased with increasing neighbourhood-level deprivation across all family and individual-level socio-demographic categories. The odds ratio (OR for diagnosed childhood obesity for those living in high-deprivation neighbourhoods versus those living in low-deprivation neighbourhoods was 2.44 (95% confidence interval (CI = 2.22-2.68. High neighbourhood deprivation remained significantly associated with higher odds of diagnosed childhood obesity after adjustment for family- and individual-level socio-demographic characteristics (OR = 1.70, 95% CI = 1.55-1.89. Age, middle level family income, maternal marital status, low level education, living in large cities, advanced paternal and maternal age, family history of obesity, parental history of diabetes, chronic obstructive pulmonary disease, alcoholism and personal history of diabetes were all associated with higher odds of diagnosed childhood obesity. Conclusions: Our results suggest that neighbourhood characteristics affect the odds of diagnosed childhood obesity independently of family- and individual-level socio

  12. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

    Science.gov (United States)

    Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

    2017-12-01

    Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  13. The Role of Birth/Previously Adopted Children in Families Choosing to Adopt Children with Special Needs.

    Science.gov (United States)

    Mullin, Ellen Steele; Johnson, LeAnne

    1999-01-01

    Notes that successful child placement depends on engaging birth or previously adopted children during the adoption process, yet other children are often overlooked when parents are adopting a special-needs child. Presents a model which recognizes dynamics of strength and vulnerability and applies that model to preparing and supporting the adoptive…

  14. Complete Heart Block with Diastolic Heart Failure and Pulmonary Edema Secondary to Enlarging Previously Diagnosed Thrombosed Aneurysm of Sinus of Valsalva in a Patient with History of Autosomal Dominant Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Sherif Ali Eltawansy

    2015-01-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is associated with vascular aneurysms that can affect any part of the vascular tree, like ascending aorta or coronary arteries. Sinus of Valsalva is known as an anatomical dilation at the root of aorta above the aortic valve and very few cases show aneurysm at that site in patients with ADPKD. Sinus of Valsalva aneurysm (SVA can present with rupture and acute heart failure and infective endocarditis or could be asymptomatic accidentally discovered during cardiac catheterization. We report a case of a 76-year-old male with a unique constellation of cardiovascular anomalies associated with ADPKD. Patient was previously diagnosed with aneurysms affecting ascending aorta, sinus of Valsalva, and coronary arteries. Several years later, he came with complete heart block which was discovered later to be secondary to enlargement of his previously diagnosed thrombosed SVA. His case was complicated with acute heart failure and pulmonary edema. Conclusion. Patients with ADPKD can present with extrarenal manifestations. In our case, aneurysm at sinus of Valsalva was progressively enlarging and presented with complete heart block.

  15. ErpC, a member of the complement regulator-acquiring family of surface proteins from Borrelia burgdorferi, possesses an architecture previously unseen in this protein family

    International Nuclear Information System (INIS)

    Caesar, Joseph J. E.; Johnson, Steven; Kraiczy, Peter; Lea, Susan M.

    2013-01-01

    The structure of ErpC, a member of the complement regulator-acquiring surface protein family from B. burgdorferi, has been solved, providing insights into the strategies of complement evasion by this zoonotic bacterium and suggesting a common architecture for other members of this protein family. Borrelia burgdorferi is a spirochete responsible for Lyme disease, the most commonly occurring vector-borne disease in Europe and North America. The bacterium utilizes a set of proteins, termed complement regulator-acquiring surface proteins (CRASPs), to aid evasion of the human complement system by recruiting and presenting complement regulator factor H on its surface in a manner that mimics host cells. Presented here is the atomic resolution structure of a member of this protein family, ErpC. The structure provides new insights into the mechanism of recruitment of factor H and other factor H-related proteins by acting as a molecular mimic of host glycosaminoglycans. It also describes the architecture of other CRASP proteins belonging to the OspE/F-related paralogous protein family and suggests that they have evolved to bind specific complement proteins, aiding survival of the bacterium in different hosts

  16. Eucharitidae (Hymenoptera, Chalcidoidea, a family new to the fauna of Saudi Arabia, with the description of the previously unknown male of Eucharis (Psilogastrellus affinis Bouček

    Directory of Open Access Journals (Sweden)

    Neveen S. Gadallah

    2014-12-01

    Full Text Available The family Eucharitidae (Hymenoptera: Chalcidoidea is recorded for the first time for the fauna of Saudi Arabia based on Hydrorhoa caffra (Westwood and Eucharis (Psilogastrellus affinis Bouček. The record of H. caffra suggests that Al-Baha and Asir provinces should be considered as part of the Afrotropical rather than the Palaearctic region. The previously unknown male of E. affinis Bouček is described and figured. Macrophotographs of the species are provided.

  17. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  18. Cloning and Expression of Three New Azotobacter vinelandii Genes Closely Related to a Previously Described Gene Family Encoding Mannuronan C-5-Epimerases

    OpenAIRE

    Svanem, Britt Iren Glærum; Skjåk-Bræk, Gudmund; Ertesvåg, Helga; Valla, Svein

    1999-01-01

    The cloning and expression of a family of five modular-type mannuronan C-5-epimerase genes from Azotobacter vinelandii (algE1 to -5) has previously been reported. The corresponding proteins catalyze the Ca2+-dependent polymer-level epimerization of β-d-mannuronic acid to α-l-guluronic acid (G) in the commercially important polysaccharide alginate. Here we report the identification of three additional structurally similar genes, designated algE6, algE7, and algY. All three genes were sequenced...

  19. Psychometric Properties of the Beach Center Family Quality of Life in French-Speaking Families with a Preschool-Aged Child Diagnosed with Autism Spectrum Disorder

    Science.gov (United States)

    Rivard, Mélina; Mercier, Céline; Mestari, Zakaria; Terroux, Amélie; Mello, Catherine; Bégin, Jean

    2017-01-01

    The Beach Center Family Quality of Life Scale (Beach Center FQOL) is used to evaluate and develop family-centered intervention services. However, its use with families of children with autism spectrum disorder (ASD) and in non-English speaking populations requires further investigation. The present study sought to assess the psychometric…

  20. Exploration of the family's role and strengths after a young woman is diagnosed with breast cancer: views of women and their families.

    Science.gov (United States)

    Coyne, Elisabeth; Wollin, Judy; Creedy, Debra K

    2012-04-01

    This exploratory descriptive study examined the role and strengths of the family when supporting the younger woman (<50 years) after a diagnosis of breast cancer. The perspectives of women and family members were sought. Participants were recruited from oncology outpatient units in Australia. Semi-structured interviews guided by the Family Resiliency Framework were undertaken with 14 young women with breast cancer and 11 family members who reflected on the roles of family. Transcripts were analysed individually and in family groupings. Women with breast cancer and their family members experienced a range of emotions during the treatment period. Roles within the family changed as members responded to their circumstances. Analysis of interview transcripts identified the following primary themes; 'just being there', 'paradox of help' and 'buffer from society'. A secondary theme related to support, specifically 'the changing role of support for family members', highlighting the strengths and experiences of family. Recognition needs to be given to the complexity of changing roles experienced by young women with breast cancer and their families. Young women with breast cancer require unique forms of support because of the nature of their experience. Family roles were shaped through a shared sense of commitment and open communication amongst members. Families may demonstrate a range of strengths but are also vulnerable during this stressful period. Health professionals need to be aware of the possible needs of families, assess their adaptation to changing circumstances, and intervene through the provision of information, and counselling to enhance coping. Copyright © 2011 Elsevier Ltd. All rights reserved.

  1. Patient/Family Education for Newly Diagnosed Pediatric Oncology Patients: Consensus Recommendations from a Children’s Oncology Group Expert Panel

    Science.gov (United States)

    Landier, Wendy; Ahern, JoAnn; Barakat, Lamia P.; Bhatia, Smita; Bingen, Kristin M.; Bondurant, Patricia G.; Cohn, Susan L.; Dobrozsi, Sarah K.; Haugen, Maureen; Herring, Ruth Anne; Hooke, Mary C.; Martin, Melissa; Murphy, Kathryn; Newman, Amy R.; Rodgers, Cheryl C.; Ruccione, Kathleen S.; Sullivan, Jeneane; Weiss, Marianne; Withycombe, Janice; Yasui, Lise; Hockenberry, Marilyn

    2016-01-01

    There is a paucity of data to support evidence-based practices in the provision of patient/family education in the context of a new childhood cancer diagnosis. Since the majority of children with cancer are treated on pediatric oncology clinical trials, lack of effective patient/family education has the potential to negatively affect both patient and clinical trial outcomes. The Children’s Oncology Group Nursing Discipline convened an interprofessional expert panel from within and beyond pediatric oncology to review available and emerging evidence and develop expert consensus recommendations regarding harmonization of patient/family education practices for newly diagnosed pediatric oncology patients across institutions. Five broad principles, with associated recommendations, were identified by the panel, including recognition that (1) in pediatric oncology, patient/family education is family-centered; (2) a diagnosis of childhood cancer is overwhelming and the family needs time to process the diagnosis and develop a plan for managing ongoing life demands before they can successfully learn to care for the child; (3) patient/family education should be an interprofessional endeavor with 3 key areas of focus: (a) diagnosis/treatment, (b) psychosocial coping, and (c) care of the child; (4) patient/family education should occur across the continuum of care; and (5) a supportive environment is necessary to optimize learning. Dissemination and implementation of these recommendations will set the stage for future studies that aim to develop evidence to inform best practices, and ultimately to establish the standard of care for effective patient/family education in pediatric oncology. PMID:27385664

  2. Perceptions of communication, family adaptability and cohesion: a comparison of adolescents newly diagnosed with cancer and their parents.

    Science.gov (United States)

    Phillips-Salimi, Celeste R; Robb, Sheri L; Monahan, Patrick O; Dossey, Amy; Haase, Joan E

    2014-01-01

    To describe and compare adolescent and parent perspectives on communication, family adaptability and cohesion, as well as relationships among these variables, during the first month of an adolescent's cancer diagnosis. Seventy adolescent-parent dyads were enrolled as part of a larger multi-site study. The adolescents ranged in age from 11 to 19, and 61% were males. Parents were predominately mothers (83%). Dyads were predominately non-Hispanic Caucasian (63%). Measures included the Parent-Adolescent Communication Scale and the Family Adaptability and Cohesion Evaluation Scale (FACES II). Paired t-tests, Pearson correlations, intra-class correlation coefficients and multiple linear regression analyses were completed. Adolescent scores on communication, family adaptability and cohesion were significantly lower than parent scores. The inter-dyadic agreement between adolescents and parents was low. Communication, family adaptability and cohesion were examined separately for adolescents and for parents, and significant relationships were found. Both adolescent- and parent-perceived communication was significantly associated with family adaptability and cohesion outcomes. Differences were found in adolescent and parent perceptions of communication, family adaptability and cohesion. When both adolescents and parents had better perceived communication, this was associated with better perceived family adaptability and cohesion. Results suggest that the development of interventions to enhance adolescent-parent communication could help foster better family adaptability and cohesion, which may ultimately impact their psychological adjustment. In addition, understanding the degree to which adolescents and parents disagree on their perceptions, including the results that parents generally have more favorable perceptions, may be a useful starting point when developing interventions.

  3. Barriers in recognising, diagnosing and managing depressive and anxiety disorders as experienced by Family Physicians; a focus group study.

    NARCIS (Netherlands)

    Rijswijk, E. van; Hout, H.P.J. van; Lisdonk, E.H. van de; Zitman, F.G.; Weel, C. van

    2009-01-01

    BACKGROUND: The recognition and treatment of depressive- and anxiety disorders is not always in line with current standards. The results of programs to improve the quality of care, are not encouraging. Perhaps these programs do not match with the problems experienced in family practice. This study

  4. Investigating the cost-effectiveness of videotelephone based support for newly diagnosed paediatric oncology patients and their families: design of a randomised controlled trial

    Directory of Open Access Journals (Sweden)

    Theodoros Deborah

    2007-03-01

    Full Text Available Abstract Background Providing ongoing family centred support is an integral part of childhood cancer care. For families living in regional and remote areas, opportunities to receive specialist support are limited by the availability of health care professionals and accessibility, which is often reduced due to distance, time, cost and transport. The primary aim of this work is to investigate the cost-effectiveness of videotelephony to support regional and remote families returning home for the first time with a child newly diagnosed with cancer Methods/design We will recruit 162 paediatric oncology patients and their families to a single centre randomised controlled trial. Patients from regional and remote areas, classified by Accessibility/Remoteness Index of Australia (ARIA+ greater than 0.2, will be randomised to a videotelephone support intervention or a usual support control group. Metropolitan families (ARIA+ ≤ 0.2 will be recruited as an additional usual support control group. Families allocated to the videotelephone support intervention will have access to usual support plus education, communication, counselling and monitoring with specialist multidisciplinary team members via a videotelephone service for a 12-week period following first discharge home. Families in the usual support control group will receive standard care i.e., specialist multidisciplinary team members provide support either face-to-face during inpatient stays, outpatient clinic visits or home visits, or via telephone for families who live far away from the hospital. The primary outcome measure is parental health related quality of life as measured using the Medical Outcome Survey (MOS Short Form SF-12 measured at baseline, 4 weeks, 8 weeks and 12 weeks. The secondary outcome measures are: parental informational and emotional support; parental perceived stress, parent reported patient quality of life and parent reported sibling quality of life, parental satisfaction

  5. 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.

  6. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

    DEFF Research Database (Denmark)

    Gregersen, N; Winter, V; Jensen, P K

    1995-01-01

    --involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive...... polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members....

  7. Caregiver burden and perceived health competence when caring for family members diagnosed with Alzheimer's disease and related dementia.

    Science.gov (United States)

    Bailes, Christine O; Kelley, Colleen M; Parker, Nadine M

    2016-10-01

    To identify if there is a relationship between perceived health competence and burden of care of informal caregivers of family members with Alzheimer's disease and related dementia (ADRD). Informal caregivers 18 years and older who received services from the Alzheimer's Resource of Alaska were invited to complete a survey. Findings indicate that there was a negative correlation between perceived health competence and burden of care (N = 64, r = -.54, p Scale: objective burden (r = -.65, p = competence, nurse practitioners (NPs) can play an important role in assessing caregiver burden. The results of this study enlighten NPs about informal caregiver burden and will help guide discussions and assessments during routine healthcare visits with the goal of achieving optimal health for informal caregivers. ©2016 American Association of Nurse Practitioners.

  8. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Science.gov (United States)

    2012-01-01

    Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382

  9. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

    Science.gov (United States)

    Eisenberger, Tobias; Slim, Rima; Mansour, Ahmad; Nauck, Markus; Nürnberg, Gudrun; Nürnberg, Peter; Decker, Christian; Dafinger, Claudia; Ebermann, Inga; Bergmann, Carsten; Bolz, Hanno Jörn

    2012-09-02

    Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

  10. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Directory of Open Access Journals (Sweden)

    Eisenberger Tobias

    2012-09-01

    Full Text Available Abstract Background Usher syndrome (USH is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP. We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3. Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

  11. Global history of the ancient monocot family Araceae inferred with models accounting for past continental positions and previous ranges based on fossils.

    Science.gov (United States)

    Nauheimer, Lars; Metzler, Dirk; Renner, Susanne S

    2012-09-01

    The family Araceae (3790 species, 117 genera) has one of the oldest fossil records among angiosperms. Ecologically, members of this family range from free-floating aquatics (Pistia and Lemna) to tropical epiphytes. Here, we infer some of the macroevolutionary processes that have led to the worldwide range of this family and test how the inclusion of fossil (formerly occupied) geographical ranges affects biogeographical reconstructions. Using a complete genus-level phylogeny from plastid sequences and outgroups representing the 13 other Alismatales families, we estimate divergence times by applying different clock models and reconstruct range shifts under different models of past continental connectivity, with or without the incorporation of fossil locations. Araceae began to diversify in the Early Cretaceous (when the breakup of Pangea was in its final stages), and all eight subfamilies existed before the K/T boundary. Early lineages persist in Laurasia, with several relatively recent entries into Africa, South America, South-East Asia and Australia. Water-associated habitats appear to be ancestral in the family, and DNA substitution rates are especially high in free-floating Araceae. Past distributions inferred when fossils are included differ in nontrivial ways from those without fossils. Our complete genus-level time-scale for the Araceae may prove to be useful for ecological and physiological studies. © 2012 The Authors. New Phytologist © 2012 New Phytologist Trust.

  12. Mental and physical health correlates among family caregivers of patients with newly-diagnosed incurable cancer: a hierarchical linear regression analysis.

    Science.gov (United States)

    Shaffer, Kelly M; Jacobs, Jamie M; Nipp, Ryan D; Carr, Alaina; Jackson, Vicki A; Park, Elyse R; Pirl, William F; El-Jawahri, Areej; Gallagher, Emily R; Greer, Joseph A; Temel, Jennifer S

    2017-03-01

    Caregiver, relational, and patient factors have been associated with the health of family members and friends providing care to patients with early-stage cancer. Little research has examined whether findings extend to family caregivers of patients with incurable cancer, who experience unique and substantial caregiving burdens. We examined correlates of mental and physical health among caregivers of patients with newly-diagnosed incurable lung or non-colorectal gastrointestinal cancer. At baseline for a trial of early palliative care, caregivers of participating patients (N = 275) reported their mental and physical health (Medical Outcome Survey-Short Form-36); patients reported their quality of life (Functional Assessment of Cancer Therapy-General). Analyses used hierarchical linear regression with two-tailed significance tests. Caregivers' mental health was worse than the U.S. national population (M = 44.31, p caregiver, relational, and patient factors simultaneously revealed that younger (B = 0.31, p = .001), spousal caregivers (B = -8.70, p = .003), who cared for patients reporting low emotional well-being (B = 0.51, p = .01) reported worse mental health; older (B = -0.17, p = .01) caregivers with low educational attainment (B = 4.36, p family caregivers of patients with incurable cancer, caregiver demographics, relational factors, and patient-specific factors were all related to caregiver mental health, while caregiver demographics were primarily associated with caregiver physical health. These findings help identify characteristics of family caregivers at highest risk of poor mental and physical health who may benefit from greater supportive care.

  13. Family Life and the Impact of Previous and Present Residential and Day Care Support for Children with Major Cognitive and Behavioural Challenges: A Dilemma for Services and Policy

    Science.gov (United States)

    Brown, R. I.; Geider, S.; Primrose, A.; Jokinen, N. S.

    2011-01-01

    Introduction: Since the development of inclusion and integration, parents have increasingly become the major, and sometimes the only, carers of their children with disabilities. Many families speak of stress and frustration with service and community support, and some have turned to residential and specialised day care services to overcome…

  14. 'It is hard for mums to put themselves first': how mothers diagnosed with breast cancer manage the sociological boundaries between paid work, family and caring for the self.

    Science.gov (United States)

    Mackenzie, Catherine Ruth

    2014-09-01

    This paper aims to increase understanding of how mothers diagnosed with breast cancer while in the paid workforce experience and manage their multiple demands of taking care of themselves, their children and their paid work. In-depth, semi-structured interviews were conducted with 32 women who were mothers of dependent children and in the paid workforce at the time of their breast cancer diagnosis. The sample includes women living in urban and rural Australia. The study found that after a breast cancer diagnosis, participants tended to prioritise their health and wellbeing over paid work. Yet dominance of gendered identity meant that they tended to place the needs of family, especially children, above their own health and wellbeing. The key factors that influenced mothers' decisions to continue in, return to, or leave paid work after a breast cancer diagnosis included: a change in perspective regarding what was important in their lives; level of support from the workplace and home; the extent to which participating in paid work was a financial necessity; the extent to which their identity was connected to paid work, and; ongoing level of pain or fatigue. The paper concludes that using the sociological concepts of the fateful moment, boundary maintenance and a feminist ethic of care produces a more nuanced understanding of women's participation in paid work after breast cancer than examining paid workforce participation, or unpaid responsibilities and mothering, separately. The nature of the permeability or malleability of boundaries between work, family and taking care of the self affects women's participation in paid work during and/or after breast cancer treatment. Increased boundary permeability or malleability brought about more by cooperation than conflict facilitated positive experiences of re-negotiating boundaries, whereas increased permeability or malleability brought about more by conflict than cooperation created difficulties for women in finding an

  15. Diagnosing Flu

    Science.gov (United States)

    ... Types Seasonal Avian Swine Variant Pandemic Other Diagnosing Flu Questions & Answers Language: English (US) Español Recommend on ... How do I know if I have the flu? Your respiratory illness might be the flu if ...

  16. Impact of breast cancer family history on tumor detection and tumor size in women newly-diagnosed with invasive breast cancer.

    Science.gov (United States)

    Schwab, Fabienne Dominique; Bürki, Nicole; Huang, Dorothy Jane; Heinzelmann-Schwarz, Viola; Schmid, Seraina Margaretha; Vetter, Marcus; Schötzau, Andreas; Güth, Uwe

    2014-03-01

    This study evaluated the impact of family history (FH) on tumor detection, the patient's age and tumor size at diagnosis in breast cancer (BC). Furthermore, we investigated whether the impact of FH on these features was dependent on degree of relationship, number of relatives with a BC history, or the age of the affected relative at the time that her BC was diagnosed. Out of the entire cohort (n = 1,037), 244 patients (23.5%) had a positive FH; 159 (15.3%) had first-degree relatives affected with BC and 85 patients (8.2%) had second-degree affected relatives. Compared to women who had no BC-affected relatives, the tumors of women who had positive FH were more often found by radiological breast examination (RBE: 31.7%/27.2%, p = 0.008), and they were smaller (general tumor size: 21.8 mm/26.4 mm, p = 0.003; size of tumors found by breast self-examination (BSE): 26.1 mm/30.6 mm, p = 0.041). However, this positive effect of increased use of BC screening and smaller tumor sizes was only observed in patients whose first-degree relatives were affected (comparison with second-degree affected relatives: RBE: 43.8%/24.7%; odds ratio 2.38, p = 0.007; general tumor size: 19.3 mm/26.3 mm; mean difference (MD) -6.9, p = 0.025; tumor size found by BSE: 22.5 mm/31.0 mm; MD -8.5, p = 0.044). When more second-degree relatives or older relatives were diagnosed with BC, the tumors of these patients were similarly often detected by RBE (relationship: 24.7%/27.2%, p = 0.641; age: 33.7 %/27.2 %, p = 0.177) and had similar tumor sizes (general size: 26.3 mm/26.4 mm, p = 0.960; BSE: 31.0 mm/30.6 mm, p = 0.902) as those of women without a FH. Women with a positive FH generally use mammography screening more often and perceive changes in the breast earlier than women without such history. The increased awareness of BC risk decreases if the relationship is more distant.

  17. "Her illness is a project we can work on together": developing a collaborative family-centered intervention model for newly diagnosed multiple sclerosis.

    Science.gov (United States)

    Rintell, David; Melito, Richard

    2013-01-01

    This article presents a model for intervening with families that are addressing a new diagnosis of multiple sclerosis (MS) in one member. The model is collaborative, integrative, and family-centered. It involves both working with the family collaboratively and providing strategies to promote greater collaboration within the family. The model integrates elements of crisis intervention theory, psycho-education, and family-centered approaches. The model was developed with families addressing MS, and was piloted with three families. The intervention was found to improve family members' ability to collaborate with each other. Such increased collaboration may enhance the family's ability to manage long-term illness more effectively, help the family address the impact of the illness on all family members, and generally improve the family's quality of life.

  18. ADHD: the impact when not diagnosed

    OpenAIRE

    Souza,Isabella de; Mattos,Paulo; Pina,Camila; Fortes,Didia

    2008-01-01

    ADHD is a highly prevalent disorder in childhood with social, academic and familial difficulties when not diagnosed and treated correctly. The aim of this case report is to demonstrate the impairment of ADHD among generations of the same family.

  19. Long-Term Effects of the Family Check-Up in Public Secondary School on Diagnosed Major Depressive Disorder in Adulthood.

    Science.gov (United States)

    Connell, Arin M; Dishion, Thomas J

    2017-03-01

    Given the public health importance of depression, the identification of prevention programs with long-term effects on reducing the rate of depression is of critical importance, as is the examination of factors that may moderate the magnitude of such prevention effects. This study examines the impact of the Family Check-Up, delivered in public secondary schools beginning in sixth grade, on the development of major depression in adulthood (aged 28-30). The multilevel intervention program included (a) a universal classroom-based intervention focused on problem solving and peer relationship skills, (b) the Family Check-Up (selected), a brief assessment-based intervention designed to motivate parents to improve aspects of family functioning when warranted, and (c) family management treatment (indicated), focused on improving parenting skills. Demographic (gender and ethnicity) and baseline risk factors (family conflict, academic problems, antisocial behavior, and peer deviance) were examined as possible moderators in logistic regression analyses. Intervention effects on depression were moderated by baseline family conflict and academic performance, with stronger intervention effects for youth with low grade point averages and from low-conflict families at baseline. Such findings extend the emerging literature on prevention programs with long-term effects on depression, and highlight directions for future research to enhance such effects.

  20. Parent-infant interactions in families with women diagnosed with postnatal depression: a longitudinal study on the effects of a psychodynamic treatment

    Directory of Open Access Journals (Sweden)

    Renata eTambelli

    2015-08-01

    Full Text Available Background: Several studies have shown a connection between mothers with post-natal depression (PND and emotional-behavioral problems in their children. Mothers' psychopathology may impair interactional patterns with children and these outcomes can be influenced by father's psychopathological symptoms. The primary aim of the study was to assess over time parent-infant interaction in families where mothers have experienced postnatal depression and have received psychological treatment during the child's first year of life considering the severity of parents' psychopathological symptoms and children's temperament. Methods: Three groups of families were involved: families with mothers with PND wherein both parents followed a psychological treatment (TxMF; families with mothers affected by PND wherein only the mother followed the treatment (TxM and control families wherein the mothers did not have a psychopathological diagnosis and did not receive any treatment (Con. The families were assessed at two time points through Symptom Check-List-90-Revised (SCL-90-R, Questionari Italiani Temperamento (QUIT and the video-recorded procedure observing mealtime Scala di Valutazione Interazioni Alimentari (SVIA. Results: Parents in the TxMF group had significantly lower SVIA scores (i.e . less maladaptive at T2. TxMF group scored lower at T2 at SCL-90-R, whereas TxM showed no significant differences between T1 and T2. Involvement of fathers in the treatment was important to improve the psychopathological symptoms of both parents and the quality of interactions with their children.

  1. Common Diagnoses in the NICU

    Science.gov (United States)

    ... breakdown of blood cells, and the liver usually "recycles" it back into the body). Although mild jaundice ... brain). However, PVL can happen without any previous history of bleeding. How is it diagnosed? Often no ...

  2. Effectiveness of a guided self-help manual in strengthening resilience in people diagnosed with moderate depression and their family caregivers in Thailand: a randomised controlled trial

    OpenAIRE

    McCann, Terence; Songprakun, Wallapa; Stephenson, John

    2017-01-01

    The growing incidence of depression in developing countries, such as Thailand, is placing increasing pressure on public mental health services, and those living in rural areas have limited access to mental health services and specialised support. Resilience is integral to the recovery of people with depression and to caregivers. This parallel group randomised controlled trial evaluated the effectiveness of a guided self-help manual in improving resilience in adults diagnosed with moderate dep...

  3. Effectiveness of a Guided Self-help Manual in Strengthening Resilience in People Diagnosed with Moderate Depression and Their Family Caregivers in Thailand: A Randomised Controlled Trial.

    Science.gov (United States)

    McCann, Terence V; Songprakun, Wallapa; Stephenson, John

    2017-08-01

    The growing incidence of depression in developing countries, such as Thailand, is placing increasing pressure on public mental health services, and those living in rural areas have limited access to these services. Resilience is integral to the recovery of people with depression and to caregivers. This parallel-group randomised controlled trial evaluated the effectiveness of a guided self-help manual in improving resilience in adults diagnosed with moderate depression and their primary caregivers in Thailand. Our findings provide preliminary evidence that the approach is an effective way of increasing resilience in adults with depression and their caregivers.

  4. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    Science.gov (United States)

    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  5. Psychometric testing of the Caregiver Quality of Life Index-Cancer scale in an Iranian sample of family caregivers to newly diagnosed breast cancer women.

    Science.gov (United States)

    Khanjari, Sedigheh; Oskouie, Fatemeh; Langius-Eklöf, Ann

    2012-02-01

    To translate and test the reliability and validity of the Persian version of the Caregiver Quality of Life Index-Cancer scale. Research across many countries has determined quality of life of cancer patients, but few attempts have been made to measure the quality of life of family caregivers of patients with breast cancer. The Caregiver Quality of Life Index-Cancer scale was developed for this purpose, but until now, it has not been translated into or tested in the Persian language. Methodological research design. After standard translation, the 35-item Caregiver Quality of Life Index-Cancer scale was administered to 166 Iranian family caregivers of patients with breast cancer. A confirmatory factor analysis was carried out using LISREL to test the scale's construct validity. Further, the internal consistency and convergent validity of the instrument were tested. For convergent validity, four instruments were used in the study: sense of coherence scale, spirituality perspective scale, health index and brief religious coping scale. The confirmatory factor analysis resulted in the same four-factor structure as the original, though, with somewhat different item loadings. The Persian version of the Caregiver Quality of Life Index-Cancer scales had satisfactory internal consistency (0·72-0·90). Tests of convergent validity showed that all hypotheses were confirmed. A hierarchical multiple regression analysis additionally confirmed the convergent validity between the total Caregiver Quality of Life Index-Cancer score and sense of coherence (β = 0·34), negative religious coping (β = -0·21), education (β = 0·24) and the more severe stage of breast cancer (β = 0·23), in total explaining 41% of the variance. The Persian version of the Caregiver Quality of Life Index-Cancer scale could be a reliable and valid measure in Iranian family caregivers of patients with breast cancer. The Persian version of the Caregiver Quality of Life Index-Cancer scale is simple to

  6. Validation of nursing management diagnoses.

    Science.gov (United States)

    Morrison, R S

    1995-01-01

    Nursing management diagnosis based on nursing and management science, merges "nursing diagnosis" and "organizational diagnosis". Nursing management diagnosis is a judgment about nursing organizational problems. The diagnoses provide a basis for nurse manager interventions to achieve outcomes for which a nurse manager is accountable. A nursing organizational problem is a discrepancy between what should be happening and what is actually happening that prevents the goals of nursing from being accomplished. The purpose of this study was to validate 73 nursing management diagnoses identified previously in 1992: 71 of the 72 diagnoses were considered valid by at least 70% of 136 participants. Diagnoses considered to have high priority for future research and development were identified by summing the mean scores for perceived frequency of occurrence and level of disruption. Further development of nursing management diagnoses and testing of their effectiveness in enhancing decision making is recommended.

  7. Laparoscopy After Previous Laparotomy

    Directory of Open Access Journals (Sweden)

    Zulfo Godinjak

    2006-11-01

    Full Text Available Following the abdominal surgery, extensive adhesions often occur and they can cause difficulties during laparoscopic operations. However, previous laparotomy is not considered to be a contraindication for laparoscopy. The aim of this study is to present that an insertion of Veres needle in the region of umbilicus is a safe method for creating a pneumoperitoneum for laparoscopic operations after previous laparotomy. In the last three years, we have performed 144 laparoscopic operations in patients that previously underwent one or two laparotomies. Pathology of digestive system, genital organs, Cesarean Section or abdominal war injuries were the most common causes of previouslaparotomy. During those operations or during entering into abdominal cavity we have not experienced any complications, while in 7 patients we performed conversion to laparotomy following the diagnostic laparoscopy. In all patients an insertion of Veres needle and trocar insertion in the umbilical region was performed, namely a technique of closed laparoscopy. Not even in one patient adhesions in the region of umbilicus were found, and no abdominal organs were injured.

  8. Sickness absence, social relations, and self-esteem: a qualitative study of the importance of relationships with family, workmates, and friends among persons initially long-term sickness absent due to back diagnoses.

    Science.gov (United States)

    Svensson, Tommy; Müssener, Ulrika; Alexanderson, Kristina

    2010-01-01

    The aim of the present study was to explore and analyze accounts of social interactions and relationships with family, workmates, and friends supplied by persons with experience of sickness absence due to back, neck, or shoulder diagnoses. The focus was on experiences that seemed to involve positive and negative self-evaluative aspects, and therefore may be important to the self-conception and self-esteem of the absentee, and possibly to return to work. The interviewees were women and men between 25 to 34 years of age who had been sickness certified due to back, neck, or shoulder diagnosis. A descriptive and explorative method was used to analyze data from five focus-group interviews. The importance of being supported and encouraged by family members, and the importance of feeling needed at work as well as being part of a social context were aspects stressed by the respondents. Our results indicate that these interactions and relations are important to the absentees' self-esteem, and that this should be taken into account when discussing rehabilitation efforts.

  9. Nursing diagnoses in overweight adolescents

    Directory of Open Access Journals (Sweden)

    Raphaela Santos do Nascimento Rodrigues

    2013-05-01

    Full Text Available This study aimed to identify nursing diagnoses in overweight adolescents from public schools, according to the International Classification for Nursing Practice. A population-based cross-sectional study that investigated the socio-demographic, behavioural and psychological characteristics of adolescents aged from 10 to 14 years. 11 nursing diagnoses were identified: "Risk of overweight", "Risk of impaired adolescent development", "Risk of insecurity in parental role performance", "Risk of the family impaired ability to manage diet regime", "Risk of impaired ability to manage diet regime", "Risk of lack of knowledge of dietary regime", "Risk of excess food intake", "Risk of negative self-image", "Risk of low self-esteem", "Risk of impaired social well-being" and "Impaired exercise pattern". These diagnoses reflect the multifactorial nature of obesity, highlighting the need for interdisciplinary and intersectoral articulation of nursing interventions for prevention and control of overweight.

  10. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  11. Diagnosing differences between business process models

    NARCIS (Netherlands)

    Dijkman, R.M.; Dumas, M.; Reichert, M.; Shan, M.-C.

    2008-01-01

    This paper presents a technique to diagnose differences between business process models in the EPC notation. The diagnosis returns the exact position of a difference in the business process models and diagnoses the type of a difference, using a typology of differences developed in previous work.

  12. Morphological diagnoses of higher taxa in Ophiuroidea (Echinodermata in support of a new classification

    Directory of Open Access Journals (Sweden)

    Timothy D. O'Hara

    2018-03-01

    Full Text Available A new classification of Ophiuroidea, considering family rank and above, is presented. The new family and superfamily taxa in O’Hara et al. (2017 were proposed to ensure a better readability of the new phylogeny but are unavailable under the provisions of the ICZN. Here, the morphological diagnoses to all 33 families and five superfamilies are provided. Ten new families, Ophiosphalmidae fam. nov., Ophiomusaidae fam. nov., Ophiocamacidae fam. nov., Ophiopteridae fam. nov., Clarkcomidae fam. nov., Ophiopezidae fam. nov., Ophiernidae fam. nov., Amphilimnidae fam. nov., Ophiothamnidae fam. nov. and Ophiopholidae fam. nov., are described. The family Ophiobyrsidae Matsumoto, 1915, not yet discovered in the previous publication, is added, based on new molecular data. A new phylogenetic reconstruction is presented. Definitions of difficult-to-apply morphological characters are given.

  13. Prevalencia de diagnósticos de enfermería en escolares desplazados v��ctimas de la violencia social e intrafamiliar Prevalence of nursing diagnoses in school displaced victims of social and intra-family violence

    Directory of Open Access Journals (Sweden)

    Elvinia Pinilla Gómez

    2009-08-01

    that it has it has on children's mental health. Objective: To determine the prevalence of nursing diagnosis in school children displaced victims of social and intra-family violence. Materials and methods: prevalence study. The sample comprised 56 children of school age in the primary grades 1 to 5 selected for convenience. We used a form of valuation validated. We calculated the prevalence of nursing diagnoses, with a confidence interval of 95%. Results: The most prevalent diagnosis were Willingness to improve self with a 100% provision to improve communication with 85.7%, Fear with 75% and Risk of post-traumatic syndrome with 60.7%. The lowest prevalence was: ineffective coping had a prevalence of 37.5%, risk of violence directed at others with 16.1%. Discussion: It was found that children presenting post-traumatic syndrome diagnoses also had fear diagnosis. It requires more attention by health staff is handling the rape trauma syndrome which appears with a 7.1%, corresponding to 2 boys and 2 girls with this diagnosis. Conclusion: School children displaced victims of the social and intra-family violence presents a considerable number of psychological diagnoses that require careful assessment and management to enable them to cope with the trauma experienced, that is not done in an appropriate manner could be considered a population at high risk for disorder mental. Salud UIS 2009; 41: 149-156

  14. Being publicly diagnosed

    DEFF Research Database (Denmark)

    Konradsen, Hanne; Lillebaek, Troels; Wilcke, Torgny

    2014-01-01

    a patient with TB, and finally being in medical treatment. Before being diagnosed with TB, patients were weighing between biding their time and deciding to undergo an examination. Social pressure and feelings of social responsibility tended to affect the decision. Having undergone the examination......INTRODUCTION: Tuberculosis (TB) is a disease which affects people worldwide, but there is knowledge lacking about patients' experiences in low-prevalence and high-income countries. AIM: To provide a theoretical framework for the process of being diagnosed with tuberculosis in a Danish setting....... METHOD: A grounded theory design with field studies and qualitative interviews, following the recommendations from Glaser and Strauss. RESULT: A process of being publicly diagnosed was identified, which developed during the patient's trajectory from being on the way to becoming a patient, becoming...

  15. Health care experiences among women diagnosed with gestational breast cancer.

    Science.gov (United States)

    Hammarberg, K; Sullivan, E; Javid, N; Duncombe, G; Halliday, L; Boyle, F; Saunders, C; Ives, A; Dickinson, J E; Fisher, J

    2018-03-01

    Gestational breast cancer (GBC) presents many challenges for women and the clinicians who care for them. The aim of this study was to explore the health care experiences of women diagnosed with GBC to inform and improve clinical care of women in this predicament. Semi-structured interviews were conducted with 17 women who had been diagnosed with GBC in the previous 5 years. The overarching themes for perceived quality of care were "communication" and "comprehensive care." "Communication" had two sub themes: "interdisciplinary communication" (the way health professionals from different disciplines communicated with each other about the management of the woman's care) and "patient communication" (how they communicated this to the woman). The "comprehensive care" theme incorporated three sub themes: "the spirit" (psychological care); "the mind" (information provision); and "the body" (management of treatment side effects). Women's own accounts of positive and negative experiences of GBC care provide unique and specific insights which improve understanding of their concerns and needs. The findings can inform advances in quality and efficacy of clinical care; offer guidance for obstetricians, oncologists and allied health professionals about the needs of women diagnosed with GBC and how care can be optimised; and inform the development of resources to assist women and their families. © 2017 John Wiley & Sons Ltd.

  16. Diagnosing plant problems

    Science.gov (United States)

    Cheryl A. Smith

    2008-01-01

    Diagnosing Christmas tree problems can be a challenge, requiring a basic knowledge of plant culture and physiology, the effect of environmental influences on plant health, and the ability to identify the possible causes of plant problems. Developing a solution or remedy to the problem depends on a proper diagnosis, a process that requires recognition of a problem and...

  17. Familial risks of glomerulonephritis - a nationwide family study in Sweden.

    Science.gov (United States)

    Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Fjellstedt, Erik; Sundquist, Kristina; Zöller, Bengt

    2016-08-01

    Familial risks of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been studied. This study aims to determine the familial risks of glomerulonephritis. Individuals born from1932 onwards diagnosed with glomerulonephritis (acute [n = 7011], chronic [n = 10,242] and unspecified glomerulonephritis [n = 5762]) were included. The familial risk (Standardized incidence ratio = SIR) was calculated for individuals whose parents/full-siblings were diagnosed with glomerulonephritis compared to those whose parents/full-siblings were not. The procedure was repeated for spouses. Familial concordant risk (same disease in proband and exposed relative) and discordant risk (different disease in proband and exposed relative) of glomerulonephritis were determined. Familial concordant risks (parents/full-sibling history) were: SIR = 3.57 (95% confidence interval, 2.77-4.53) for acute glomerulonephritis, SIR = 3.84 (3.37-4.36) for chronic glomerulonephritis and SIR = 3.75 (2.85-4.83) for unspecified glomerulonephritis. High familial risks were observed if two or more relatives were affected; the SIR was 209.83 (150.51-284.87) in individuals with at least one affected parent as well as one full-sibling. The spouse risk was only moderately increased (SIR = 1.53, 1.33-1.75). Family history of glomerulonephritis is a strong predictor for glomerulonephritis, and is a potentially useful tool in clinical risk assessment. Our data emphasize the contribution of familial factors to the glomerulonephritis burden in the community. Key Messages The familial risks (full-sibling/parent history) of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been determined previously. The familial risks of glomerulonephritis were increased among individuals with family history of acute, chronic or unspecified glomerulonephritis. The familial risks of glomerulonephritis were slightly increased among spouses indicating a

  18. Neuropsychiatric and cardiometabolic comorbidities in patients with previously diagnosed Cushing's disease: a longitudinal observational study

    OpenAIRE

    Dimopoulou, C; Geraedts, V; Stalla, G K; Sievers, C

    2015-01-01

    INTRODUCTION: Only few studies have systematically investigated neuropsychiatric aspects in patients with Cushing's disease (CD). Pain syndromes have been described in patients with pituitary adenomas, but so far no systematical investigation has been conducted in patients with CD. Additionally, CD has an association with cardiometabolic comorbidities which ultimately leads to increased morbidity and mortality. Long-term treatment of the hypercortisolic state cannot prevent the persistence of...

  19. Tuberculous abdominal abscess in an HIV-infected man: Neither infection previously diagnosed

    Directory of Open Access Journals (Sweden)

    Kuo-Yao Kao

    2010-11-01

    Full Text Available A 38-year-old man had a 1-week history of right lower quadrant abdominal pain; the initial impression was that he had diverticulitis of the ascending colon with an intra-abdominal abscess. Signs of peritonitis mandated an immediate right hemicolectomy. The unusual location of the abscess and the patient’s unusual postoperative course suggested that he might also have a systemic disease. Testing for HIV infection was positive. After 2 weeks in hospital, he was treated as an outpatient for both tuberculosis and HIV with a favourable outcome. In Taiwan a pre-operative HIV test is not performed routinely, and the HIV seroprevalence in surgical patient populations is unknown. Surgeons should keep the possibility of HIV infection in mind in a patient with an unusual clinical course.

  20. Liability for Diagnosing Malingering.

    Science.gov (United States)

    Weiss, Kenneth J; Van Dell, Landon

    2017-09-01

    Malingering is a medical diagnosis, but not a psychiatric disorder. The label imputes that an evaluee has intentionally engaged in false behavior or statements. By diagnosing malingering, psychiatrists pass judgment on truthfulness. Evaluees taking exception to the label may claim that the professional has committed defamation of character (libel or slander) when the diagnosis is wrong and costs the claimant money or benefits. Clinicians may counter by claiming immunity or that the diagnosis was made in good faith. This problem has come into focus in military and veterans' contexts, where diagnoses become thresholds for benefits. Through historical and literary examples, case law, and military/veterans' claims of disability and entitlement, the authors examine the potency of the malingering label and the potential liability for professionals and institutions of making this diagnosis. © 2017 American Academy of Psychiatry and the Law.

  1. Previously unknown species of Aspergillus.

    Science.gov (United States)

    Gautier, M; Normand, A-C; Ranque, S

    2016-08-01

    The use of multi-locus DNA sequence analysis has led to the description of previously unknown 'cryptic' Aspergillus species, whereas classical morphology-based identification of Aspergillus remains limited to the section or species-complex level. The current literature highlights two main features concerning these 'cryptic' Aspergillus species. First, the prevalence of such species in clinical samples is relatively high compared with emergent filamentous fungal taxa such as Mucorales, Scedosporium or Fusarium. Second, it is clearly important to identify these species in the clinical laboratory because of the high frequency of antifungal drug-resistant isolates of such Aspergillus species. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) has recently been shown to enable the identification of filamentous fungi with an accuracy similar to that of DNA sequence-based methods. As MALDI-TOF MS is well suited to the routine clinical laboratory workflow, it facilitates the identification of these 'cryptic' Aspergillus species at the routine mycology bench. The rapid establishment of enhanced filamentous fungi identification facilities will lead to a better understanding of the epidemiology and clinical importance of these emerging Aspergillus species. Based on routine MALDI-TOF MS-based identification results, we provide original insights into the key interpretation issues of a positive Aspergillus culture from a clinical sample. Which ubiquitous species that are frequently isolated from air samples are rarely involved in human invasive disease? Can both the species and the type of biological sample indicate Aspergillus carriage, colonization or infection in a patient? Highly accurate routine filamentous fungi identification is central to enhance the understanding of these previously unknown Aspergillus species, with a vital impact on further improved patient care. Copyright © 2016 European Society of Clinical Microbiology and

  2. Cryptococcal meningitis in a previously healthy child | Chimowa ...

    African Journals Online (AJOL)

    An 8-year-old previously healthy female presented with a 3 weeks history of headache, neck stiffness, deafness, fever and vomiting and was diagnosed with cryptococcal meningitis. She had documented hearing loss and was referred to tertiary-level care after treatment with fluconazole did not improve her neurological ...

  3. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ...

  4. Diagnoser som styringshybrider

    DEFF Research Database (Denmark)

    Bossen, Claus; Danholt, Peter; Ubbesen, Morten Bonde

    2016-01-01

    - Relaterede Grupper (DRG). DRG er et internationalt udbredt system til at knytte patienter og deres behandlingsomkostninger sammen i faste kategorier med henblik på at måle hospitalers produktivitet. Med afsæt i Science-Technology-Studies (STS)-feltet analyserer artiklen, hvorledes diagnoser overskrider deres......, hvordan DRG-systemet alternativt kan anskues som en samfundsudviklende infrastruktur, idet det forsamler og skaber gensidigt involverende interaktioner imellem politiske, administrative og sundhedsprofessionelle domæner. En sådan indsigt bidrager til en udvidet forståelse af infrastrukturers roller som...

  5. Family Process - Autism Spectrum Disorders

    OpenAIRE

    Benson, Mark

    2012-01-01

    Slides for a talk about family process and the importance of parenting dimensions in adolescent development. The slides list findings to date, and propose research into the influence of family on outcomes for those diagnosed with an autism spectrum disorder.

  6. Diagnosing night sweats.

    Science.gov (United States)

    Viera, Anthon J; Bond, Michael M; Yates, Scott W

    2003-03-01

    Night sweats are a common outpatient complaint, yet literature on the subject is scarce. Tuberculosis and lymphoma are diseases in which night sweats are a dominant symptom, but these are infrequently found to be the cause of night sweats in modern practice. While these diseases remain important diagnostic considerations in patients with night sweats, other diagnoses to consider include human immunodeficiency virus, gastroesophageal reflux disease, obstructive sleep apnea, hyperthyroidism, hypoglycemia, and several less common diseases. Antihypertensives, antipyretics, other medications, and drugs of abuse such as alcohol and heroin may cause night sweats. Serious causes of night sweats can be excluded with a thorough history, physical examination, and directed laboratory and radiographic studies. If a history and physical do not reveal a possible diagnosis, physicians should consider a purified protein derivative, complete blood count, human immunodeficiency virus test, thyroid-stimulating hormone test, erythrocyte sedimentation rate evaluation, chest radiograph, and possibly chest and abdominal computed tomographic scans and bone marrow biopsy.

  7. Diagnosable structured logic array

    Science.gov (United States)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  8. Diagnosing Dementia—Positive Signs

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

  9. Familial Pallister-Hall in adulthood.

    Science.gov (United States)

    Talsania, Mitali; Sharma, Rohan; Sughrue, Michael E; Scofield, R Hal; Lim, Jonea

    2017-10-01

    Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically. He did well until he had visual changes after a traumatic head injury. Repeat MRI showed slight expansion of the mass with formal visual field testing demonstrating bitemporal hemianopsia. There was no evidence of pituitary dysfunction except for large urine volume. He underwent surgery to debulk the hamartoma and the visual field defects improved. There was no hypopituitarism post-operatively, and the polydyspia resolved. His 29 year old daughter also had seizures and hypothalamic hamartoma. Both patients had had polydactyly with prior surgical correction in childhood. The daughter underwent genetic testing, which revealed a previously undescribed heterozygous single base pair deletion in exon 13 of the GLI3 gene causing a frameshift mutation. Further investigation into family history revealed multiple members in previous generations with polydactyly and/or seizures. Pallister-Hall syndrome is caused by an inherited autosomal dominant or de novo mutation in GLI3 gene. This rare syndrome has not had prevalence defined, however. Generally, diagnoses are made in the pediatric population. Our report adds to the few cases detected in adulthood.

  10. Diagnosing suffering: a perspective.

    Science.gov (United States)

    Cassell, E J

    1999-10-05

    The alleviation of suffering is crucial in all of medicine, especially in the care of the dying. Suffering cannot be treated unless it is recognized and diagnosed. Suffering involves some symptom or process that threatens the patient because of fear, the meaning of the symptom, and concerns about the future. The meanings and the fear are personal and individual, so that even if two patients have the same symptoms, their suffering would be different. The complex techniques and methods that physicians usually use to make a diagnosis, however, are aimed at the body rather than the person. The diagnosis of suffering is therefore often missed, even in severe illness and even when it stares physicians in the face. A high index of suspicion must be maintained in the presence of serious disease, and patients must be directly questioned. Concerns over the discomfort of listening to patients' severe distress are usually more than offset by the gratification that follows the intervention. Often, questioning and attentive listening, which take little time, are in themselves ameliorative. The information on which the assessment of suffering is based is subjective; this may pose difficulties for physicians, who tend to value objective findings more highly and see a conflict between the two kinds of information. Recent advances in understanding how physicians increase the utility of information and make inferences allow one to reliably use the subjective information on which the diagnosis and treatment of suffering depend. Knowing patients as individual persons well enough to understand the origin of their suffering and ultimately its best treatment requires methods of empathic attentiveness and nondiscursive thinking that can be learned and taught. The relief of suffering depends on physicians acquiring these skills.

  11. Descobrindo a Doença de Parkinson: impacto para o parkinsoniano e seu familiar Descubriendo la Enfermedad de Parkinson: impacto para el parkinsoniano y su familiar Diagnosed with Parkinson's Diesease: impact on patients and family members

    Directory of Open Access Journals (Sweden)

    Fabiana Magalhães Navarro Peternella

    2009-02-01

    Full Text Available Estudo de natureza qualitativa, com o objetivo de compreender o impacto do diagnóstico de Parkinson para o individuo e família. Os dados foram coletados no período de Outubro a Dezembro de 2007, junto a 20 indivíduos residentes em Maringá - PR, sendo dez parkinsonianos e seu familiar mais próximo, por meio de entrevista semi-estruturada. Na análise dos dados emergiram dois temas: "Descobrindo-se portador de doença de Parkinson" e "Percalços e sentimentos após o diagnostico", os quais revelam que a falta de conhecimento sobre a doença ainda é muito grande e que a qualidade do primeiro contato com o diagnóstico é crucial na determinação e comportamento dos indivíduos frente à doença.Estudio de naturaleza cualitativa, desarrollado con el objetivo de comprender el impacto del diagnóstico de Parkinson para el individuo y familia. Los datos fueron recogidos en el período de Octubre a Diciembre de 2007, junto a 20 individuos residentes en Maringá - PR, siendo diez parkinsonianos y su familiar más próximo, por medio de entrevista semiestructurada. En el análisis de los datos emergieron dos temas: "Descubriéndose portador de enfermedad de Parkinson: una larga trayectoria" y "Percances y sentimientos después del diagnóstico", los cuales revelan que la falta de conocimiento sobre la enfermedad aún es muy grande en la población en general y que la calidad del primer contacto con el diagnóstico es crucial en la determinación y comportamiento de los individuos frente la enfermedad.This was a qualitative nature, developed with the objective of understanding the impact of a Parkinson's diagnosis on the individual and the family. Data were collected between October and December 2007, from 20 individuals residing in Maringá, PR - 10 Parkinson's patients and their closest family member - using semi-structured interviews. From the analysis of the data, two themes emerged: "Coming to terms as a Parkinson's patient: a long path" and

  12. Identification of nursing management diagnoses.

    Science.gov (United States)

    Morrison, R S

    1997-02-01

    Theories from nursing and management provide frameworks for enhancing effectiveness of nursing management practice. The concept nursing management diagnosis has been developed by integrating nursing diagnosis and organizational diagnosis as a basis for nurse manager decision-making. Method triangulation was used to identify problems of managing nursing units, to validate those problems for relevancy to practice, to generate nursing management diagnoses, and to validate the diagnoses. Diagnoses were validated according to a definition of nursing management diagnosis provided. Of the 72 nursing management diagnoses identified, 66 were validated at a 70% level of agreement by nurse managers participating in the study.

  13. Gestational Diabetes in Korea: Incidence and Risk Factors of Diabetes in Women with Previous Gestational Diabetes

    Directory of Open Access Journals (Sweden)

    Hak Chul Jang

    2011-02-01

    Full Text Available Korean women with a history of gestational diabetes mellitus (GDM have a 3.5 times greater risk of developing postpartum diabetes than the general population. The incidence of type 2 diabetes mellitus in early postpartum is reported as 10-15% in Korean women. A prospective follow-up study on Korean women with GDM showed that approximately 40% of women with previous GDM were expected to develop diabetes within 5 years postpartum. Independent risk factors for the development of diabetes in Korean women with previous GDM are pre-pregnancy body weight, gestational age at diagnosis, antepartum hyperglycemia on oral glucose tolerance test, low insulin response to oral glucose load, and family history of diabetes. Women with postpartum diabetes have greater body mass indexes, body weight, and waist circumferences than women with normal glucose tolerance. Multiple logistic regression analysis has revealed that waist circumference is the strongest obesity index along with systolic blood pressure and that triglyceride levels are a major independent risk factor for developing diabetes. These results in Korean women with previous GDM underline the importance of postpartum testing in Korean women diagnosed with GDM, and demonstrate that impaired B-cell function, obesity, and especially visceral obesity, are associated with the development of diabetes.

  14. The effectiveness of school-based family asthma educational programs on the quality of life and number of asthma exacerbations of children aged five to 18 years diagnosed with asthma: a systematic review protocol.

    Science.gov (United States)

    Walter, Helen; Sadeque-Iqbal, Fatema; Ulysse, Rose; Castillo, Doreen; Fitzpatrick, Aileen; Singleton, Joanne

    2015-10-01

    The objective of this review is to identify the best available quantitative evidence related to the effectiveness of school-based family asthma educational programs on the quality of life and number of asthma exacerbations of children aged five to18 years with a diagnosis of asthma. Asthma is a serious public health issue globally and nationally. The World Health Organization (WHO) Global Asthma Report 2014 estimates that 334 million people worldwide currently suffer from asthma. In the United States, asthma currently affects about 25 million people. Although asthma can occur at any age, it most often begins early in life, and is the most common non-communicable disease among children. Approximately 14% of the world's children have asthma. In the United States, 7.1 million children have asthma. Globally, the burden of asthma, measured by disability and premature death, is greatest in children approaching adolescence (ages 10-14). Asthma is also a serious economic concern in primary health care worldwide. In the United States, the estimated total cost of asthma to society was US$56 billion in 2007, or US$3259 per person. In 2008 asthma caused 10.5 million missed days from school and 14.2 missed days from work for caregivers. The estimated total cost of loss of productivity resulting from missed school or work days is US$3.8 billion per year, and premature death US$2.1 billion per year. Globally, asthma ranks 14 in terms of disability adjusted life years (DALYs), which are the number of years lost to ill health, disability or death attributed to asthma. According to a 2011 European study, the estimated total cost of asthma was €19.3 billion among people aged 15 to 64 years. A study conducted in the Asia-Pacific region reported that the direct and indirect costs of asthma per person ranged from US$184 in Vietnam to US$1189in Hong Kong in 2000. A Canadian study showed that C$184 loss of productivity during one week was attributed to asthma in 2012. In Australia, AU

  15. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

    Science.gov (United States)

    Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

    2013-12-01

    This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

  16. Fragile X Syndrome in a Colombian Family

    Directory of Open Access Journals (Sweden)

    Saldarriaga Gil, Wilmar

    2018-01-01

    Full Text Available A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis. The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele. With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.

  17. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Provider Pocket Guides Provider Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ... Patient Pocket Guides Patient Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ...

  18. Neuroblastoma in Children: Just Diagnosed Information

    Science.gov (United States)

    ... Financial Reports Watchdog Ratings Feedback Contact Select Page Neuroblastoma in Children – Just Diagnosed Home > Cancer Resources > Types ... Diagnosed Just Diagnosed In Treatment After Treatment Diagnosing Neuroblastoma Depending on the location of the tumor and ...

  19. Diagnosis and key of the main families and species of South American Coleoptera of forensic importance Diagnose e chave de identificação para as principais famílias e espécies de Coleoptera de importância forense da América do Sul

    Directory of Open Access Journals (Sweden)

    Lúcia M. Almeida

    2009-06-01

    Full Text Available The objective of this paper is to provide diagnosis and keys of the families and species, with illustrations of the main groups. A table of all related species recorded from South America is presented, including the substrate in which they were collected and their geographical distribution. The list comprises 221 species included in 15 families, of which 70% of the species are from Brazil. Scarabaeidae is the most diverse family with 121 species, followed by Staphylinidae with 68. Also we provide one database of Coleoptera species associated with carcasses in South America.O objetivo deste trabalho é apresentar diagnoses e chaves de identificação das principais famílias e espécies de importância forense, com ilustrações dos principais grupos. É apresentada uma tabela de todas as espécies de ocorrência na América do Sul, incluindo o substrato nas quais foram coletadas e sua distribuição geográfica. A lista compreende 221 espécies incluídas em 15 famílias, das quais pelo menos 70% das espécies são distribuídas no Brasil. Scarabaeidae é a família com maior diversidade com 121 espécies, seguida por Staphylinidae com 68. Também é fornecida uma base de dados para as espécies de Coleoptera associadas a carcaças na América do Sul.

  20. How Are Learning Disabilities Diagnosed?

    Science.gov (United States)

    ... Research Information Research Goals Activities and Advances Scientific Articles Find a Study Resources and Publications For Patients and Consumers For Researchers and Health Care Providers Home Health A to Z List Learning Disabilities Condition Information How is it diagnosed? Share ...

  1. How to diagnose cardiac tamponade

    NARCIS (Netherlands)

    van Steijn, JHM; Sleijfer, DT; van der Graaf, WTA; van der Sluis, A; Nieboer, P

    Malignant pericardial effusion is a potentially fatal complication of malignancy unless recognised and treated promptly. Patients with this condition are often difficult to diagnose. Physical examination, chest radiography and electrocardiography have poor diagnostic values in identification of

  2. Recurrent APC gene mutations in Polish FAP families

    Directory of Open Access Journals (Sweden)

    Pławski Andrzej

    2007-12-01

    Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

  3. Moyamoya disease in a child with previous acute necrotizing encephalopathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Taik-Kun; Cha, Sang Hoon; Chung, Kyoo Byung; Kim, Jung Hyuck; Kim, Baek Hyun; Chung, Hwan Hoon [Department of Diagnostic Radiology, Korea University College of Medicine, Ansan Hospital, 516 Kojan-Dong, Ansan City, Kyungki-Do 425-020 (Korea); Eun, Baik-Lin [Department of Pediatrics, Korea University College of Medicine, Seoul (Korea)

    2003-09-01

    A previously healthy 24-day-old boy presented with a 2-day history of fever and had a convulsion on the day of admission. MRI showed abnormal signal in the thalami, caudate nuclei and central white matter. Acute necrotising encephalopathy was diagnosed, other causes having been excluded after biochemical and haematological analysis of blood, urine and CSF. He recovered, but with spastic quadriparesis. At the age of 28 months, he suffered sudden deterioration of consciousness and motor weakness of his right limbs. MRI was consistent with an acute cerebrovascular accident. Angiography showed bilateral middle cerebral artery stenosis or frank occlusion with numerous lenticulostriate collateral vessels consistent with moyamoya disease. (orig.)

  4. Diagnoser

    DEFF Research Database (Denmark)

    Waaddegaard, Mette; Lau, Marianne Engelbrecht; Schousboe, Birgitte Hartvig

    2012-01-01

    Spiseforstyrrelser er psykiske sygdomme, hvor forholdet til mad, krop og spisning er så forstyrret, at det går ud over ens sundhed og sociale liv. Man skelner typisk mellem anoreksi, bulimi og tvangsoverspisning, men der findes næsten lige så mange kombinationer af spiseforstyrrelsessymptomer, som...

  5. Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

    Science.gov (United States)

    Matos, A R; Sambuughin, N; Rumjanek, F D; Amoedo, N D; Cunha, L B P; Zapata-Sudo, G; Sudo, R T

    2009-12-01

    Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an important functional and conserved locus of this gene, the transmembrane region of RyR1. In this family, 2 MH-susceptible individuals previously diagnosed with CHCT carry this novel mutation and another 24 not previously diagnosed members also carry it. However, this same mutation was not found in another MH-susceptible individual whose CHCT was positive to the test with caffeine but not to the test with halothane. None of the 5 MH normal individuals of the family, previously diagnosed by CHCT, carry this mutation, nor do 100 controls from control Brazilian and USA populations. The Gly4932Ser variant is a candidate mutation for MH, based on its co-segregation with disease phenotype, absence among controls and its location within the protein.

  6. Conflict adaptation in patients diagnosed with schizophrenia.

    Science.gov (United States)

    Abrahamse, Elger; Ruitenberg, Marit; Boddewyn, Sarah; Oreel, Edith; de Schryver, Maarten; Morrens, Manuel; van Dijck, Jean-Philippe

    2017-11-01

    Cognitive control impairments may contribute strongly to the overall cognitive deficits observed in patients diagnosed with schizophrenia. In the current study we explore a specific cognitive control function referred to as conflict adaptation. Previous studies on conflict adaptation in schizophrenia showed equivocal results, and, moreover, were plagued by confounded research designs. Here we assessed for the first time conflict adaptation in schizophrenia with a design that avoided the major confounds of feature integration and stimulus-response contingency learning. Sixteen patients diagnosed with schizophrenia and sixteen healthy, matched controls performed a vocal Stroop task to determine the congruency sequence effect - a marker of conflict adaptation. A reliable congruency sequence effect was observed for both healthy controls and patients diagnosed with schizophrenia. These findings indicate that schizophrenia is not necessarily accompanied by impaired conflict adaptation. As schizophrenia has been related to abnormal functioning in core conflict adaptation areas such as anterior cingulate and dorsolateral prefrontal cortex, further research is required to better understand the precise impact of such abnormal brain functioning at the behavioral level. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Accuracy of Veterans Affairs Databases for Diagnoses of Chronic Diseases

    OpenAIRE

    Singh, Jasvinder A.

    2009-01-01

    Introduction Epidemiologic studies usually use database diagnoses or patient self-report to identify disease cohorts, but no previous research has examined the extent to which self-report of chronic disease agrees with database diagnoses in a Veterans Affairs (VA) health care setting. Methods All veterans who had a medical care visit from October 1, 1996, through May 31, 1998, at any of the Veterans Integrated Service Network 13 facilities were surveyed about physician diagnosis of chronic ob...

  8. Follow-up of prenatally diagnosed unilateral hydronephrosis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Lenz, K; Rabol, A

    1996-01-01

    Based on previous experience with prenatally diagnosed unilateral hydronephrosis, we found that the primary indications for surgical intervention should be symptoms or functional impairment of the hydronephrotic kidney. Nonoperative management of neonates without symptoms and with normal function...... of the affected kidney was proposed. However, the strategy of treatment after prenatally diagnosed hydronephrosis is still controversial. We studied 28 consecutive children with suspected unilateral pelviureteral junction obstruction and a normal contralateral kidney. The overall follow-up period varied between 2...

  9. Gaucher's disease diagnosed by splenectomy.

    Science.gov (United States)

    Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

    2009-08-01

    Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation.

  10. Psychiatric diagnoses, trauma, and suicidiality

    Directory of Open Access Journals (Sweden)

    Elklit Ask

    2007-04-01

    Full Text Available Abstract Background This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. Methods During two months, all consecutive patients (n = 139 in a psychiatric hospital in Western Norway were interviewed (response rate 72%. Results Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma for longer periods of time. Only 7% acquired a PTSD diagnosis. The comorbidity of PTSD and other psychiatric diagnoses were 78%. A number of diagnoses were associated with specific traumas. Sixty-seven percent of the patients reported suicidal thoughts in the month prior to intake; thirty-one percent had attempted suicide in the preceding week. Suicidal ideation, self-harming behaviour, and suicide attempts were associated with specific traumas. Conclusion Traumatised patients appear to be under- or misdiagnosed which could have an impact on the efficiency of treatment.

  11. Correlation of antemortem diagnoses and postmortem diagnoses in ...

    African Journals Online (AJOL)

    Background: The postmortem examination is a veritable means of ascertaining the correct diagnoses. Over the years, there has been a severe drop in the number of requests for postmortem examination despite its numerous advantages and benefits. The study is aimed at showing the pivotal role of the autopsy in medical ...

  12. Mutations in BRCA1 and BRCA2 Uruguayan families with breast / ovarian

    International Nuclear Information System (INIS)

    Delgado, L.; Fernández, G.; González, A.; Cataldi, S.; Castillo, C.; Heguaburu, M.; Lluberas, N.; Sabini, G.; Roca, R.; Musé, I.; Bressac-de Paillerets, B.; Bombled, J.

    2004-01-01

    Germline mutations in BRCA1 and BRCA2 are associated with susceptibility hereditary to breast (CM) and ovarian cancer (OC). The proportion of high risk families carrying mutations in BRCA1 / 2 (20% -70%) and the spectrum of mutations are variable and dependent on the location and type of families studied. In this communication we update our results on the frequency and type of mutations in BRCA1 / 2 families in Uruguayan breast / ovarian cancer. Patients and methods. 39 selected families were included in the study from patients referred to the Unit of the Hospital de Clinicas Oncogene tics for genetic risk assessment and who had at least 3 cases of CM (at least one diagnosed before age 50) or 2 cases with any of the following sub: Parental transmittance, bilateral breast cancer, breast cancer male, ovarian cancer. Results. 8 8 families different mutations (20%), 6 were identified in BRCA1 and BRCA2 2, all resulting in premature termination codon. Regarding family history, 33 families had history of CM and 6 remaining history of CM and CO. Among the first 6 mutations diagnosed (Five in BRCA1 and one in BRCA2) and between the latter 2 mutations (1 in BRCA1 and 1 in BRCA2). Regarding the index cases, all BRCA2 mutations were detected in patients in whom the disease was diagnosed before the 50, 5 of them carrying CM and CO. The BRCA1 were found in a patient with CO diagnosed at age 55 and a patient with CM diagnosed before 50 years. Conclusions. The proportion of flamilies with BRCA1 / 2 is of agreement with that reported in previous studies involving selected families based on similar criteria, but the relative frequency of engagement

  13. Immunological methods for diagnosing neurocysticercosis

    Energy Technology Data Exchange (ETDEWEB)

    Kuhn, R.E.; Estrada, J.J.; Grogl, M.

    1989-01-31

    A method is described for diagnosing active human neurocysticercosis by detecting the presence of at least one Taenia solium larval antigen in cerebrospinal fluid, which comprises: contacting cerebrospinal fluid from a human to be diagnosed with a solid support, wherein the support binds with a Taenia solium larval antigen if present, contacting the support with a first antibody, wherein the first antibody binds with a larval Taenia solium antigen if present in the cerebrospinal fluid, contacting the solid support with a detectable second antibody which will bind with the first antibody, and detecting the second antibody bound to the support.

  14. Illness perspectives of Thais diagnosed with schizophrenia.

    Science.gov (United States)

    Sanseeha, Ladda; Chontawan, Ratanawadee; Sethabouppha, Hunsa; Disayavanish, Chamlong; Turale, Sue

    2009-09-01

    This study explored the perceptions of 18 people diagnosed with schizophrenia from 1-10 years to uncover how they perceived themselves and their illness. It also involved 12 family members who added their perceptions. The data were collected using in-depth interviews, reflective journaling, and observations. The data were analyzed through the lens of Heidegger's hermeneutic phenomenology. Four themes emerged: perceptions of mental illness, perceptions of the causes of illness, perceptions of discrimination, and attempting to live with schizophrenia. The findings included strong underlying cultural and spiritual beliefs, and attitudes unique to the Thai participants, including the causation of schizophrenia by supernatural powers, black magic, and bad karma stemming from past deeds. Understanding the perceptions of the participants might help health-care providers to be more sensitive to those living with schizophrenia in Thailand and elsewhere. In particular, the findings could be useful in informing psychiatric careproviders about developing better caring systems for clients diagnosed with schizophrenia. This should help the sufferers of schizophrenia to live their lives to their own satisfaction and as normally as possible.

  15. Diagnoses and interventions in podiatry.

    NARCIS (Netherlands)

    Zuijderduin, W.M.; Dekker, J.

    1996-01-01

    In the present study a quantitative description is given of diagnoses and interventions in podiatry. Data are used from a survey on podiatry practice in The Netherlands. Data have been recorded by 36 podiatrists on 897 patients. Information was gathered on patient characteristics, the medical

  16. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  17. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for ...

  18. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult ...

  19. Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

    Science.gov (United States)

    Chiang, Huei-Hsin; Rosvall, Lina; Brohede, Jesper; Axelman, Karin; Björk, Behnosh F; Nennesmo, Inger; Robins, Tiina; Graff, Caroline

    2008-11-01

    Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes. DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced. Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an approximately 50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing. Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

  20. Preoperative screening: value of previous tests.

    Science.gov (United States)

    Macpherson, D S; Snow, R; Lofgren, R P

    1990-12-15

    To determine the frequency of tests done in the year before elective surgery that might substitute for preoperative screening tests and to determine the frequency of test results that change from a normal value to a value likely to alter perioperative management. Retrospective cohort analysis of computerized laboratory data (complete blood count, sodium, potassium, and creatinine levels, prothrombin time, and partial thromboplastin time). Urban tertiary care Veterans Affairs Hospital. Consecutive sample of 1109 patients who had elective surgery in 1988. At admission, 7549 preoperative tests were done, 47% of which duplicated tests performed in the previous year. Of 3096 previous results that were normal as defined by hospital reference range and done closest to the time of but before admission (median interval, 2 months), 13 (0.4%; 95% CI, 0.2% to 0.7%), repeat values were outside a range considered acceptable for surgery. Most of the abnormalities were predictable from the patient's history, and most were not noted in the medical record. Of 461 previous tests that were abnormal, 78 (17%; CI, 13% to 20%) repeat values at admission were outside a range considered acceptable for surgery (P less than 0.001, frequency of clinically important abnormalities of patients with normal previous results with those with abnormal previous results). Physicians evaluating patients preoperatively could safely substitute the previous test results analyzed in this study for preoperative screening tests if the previous tests are normal and no obvious indication for retesting is present.

  1. Familial short fifth metacarpals and insulin resistance

    International Nuclear Information System (INIS)

    Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Ajlouni, Kamel; Al-Hadidy, Azmy

    2006-01-01

    Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. (orig.)

  2. Automatic electromagnetic valve for previous vacuum

    International Nuclear Information System (INIS)

    Granados, C. E.; Martin, F.

    1959-01-01

    A valve which permits the maintenance of an installation vacuum when electric current fails is described. It also lets the air in the previous vacuum bomb to prevent the oil ascending in the vacuum tubes. (Author)

  3. How to diagnose acute appendicitis

    DEFF Research Database (Denmark)

    Mostbeck, Gerhard; Adam, E Jane; Nielsen, Michael Bachmann

    2016-01-01

    appendicitis (AA). • Primary US for AA diagnosis will decrease ionizing radiation and cost. • Sensitivity of US to diagnose AA is lower than of CT/MRI. • Non-visualization of the appendix should lead to clinical reassessment. • Complementary MRI or CT may be performed if diagnosis remains unclear....... and complementary imaging with MRI/CT if indicated. Accordingly, both ionizing radiation to our patients and cost of pre-therapeutic diagnosis of AA will be low, with low negative appendectomy and perforation rates. Main Messages • Ultrasound (US) should be the first imaging modality for diagnosing acute...... specificity both in the paediatric and adult patient populations. As US sensitivity is limited, and non-diagnostic US examinations with non-visualization of the appendix are more a rule than an exception, diagnostic strategies and algorithms after non-diagnostic US should focus on clinical reassessment...

  4. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

    Directory of Open Access Journals (Sweden)

    Shanshan Xu

    2017-10-01

    Full Text Available Abstract Background Noonan syndrome (NS and Noonan syndrome with multiple lentigines (NSML are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES. Methods TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. Results TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS. Conclusions TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.

  5. [Prevalence of performing and prescribing physical exercise in patients diagnosed with anxiety and depression].

    Science.gov (United States)

    Iglesias Martínez, Bibiana; Olaya Velázquez, Inés; Gómez Castro, María José

    2015-01-01

    To estimate the prevalence of physical exercise practice in patients diagnosed with anxiety and/or depression. Cross-sectional, observational study. Sabugo and la Magdalena primary care centers in Avilés. Patients aged 18 to 75 years diagnosed with anxiety and/or depression, consumers of psychoactive drugs in the three months previous to the realization of the study. We selected 376 patients by simple random sampling stratified by health center, making them a telephone survey. Age, sex, physical exercise realization, type and duration of exercise, diagnosis of anxiety and/or depression, exercise prescription, prescriber health personnel and use of psychotropic medication. 294 participants (78.19% of selected) with a mean age of 55.33 years (55.32±12.53 SD) and 78.2% were female. 60.9% were diagnosed with anxiety, 59.5% with depression and 20.4% both diagnoses. 62.9% used antidepressants, benzodiazepines 76.9% and 39.79% both treatments. 58.5% (95%CI: 52.70-64.31) performed exercise of which 44.77% did it 3-5 times/week. The mean duration was 1.24h each time (95%CI: 0.53-1.96). The physical exercise was prescribed to the 59.18% (95%CI: 53.39-64.97); 90.23% by the family physician, 63.22% primary care nurse, 17.24% psychiatrist and 5.17% psychologist. The adherence to the prescription was 59.77% (95%CI: 52.20-67.34). The percentage of anxious and/or depressed patients who practiced exercise is similar to the general population but should be higher. The exercise prescription by health personnel is insufficient. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  6. Long-Term Risk for Noncervical Anogenital Cancer in Women with Previously Diagnosed High-Grade Cervical Intraepithelial Neoplasia

    DEFF Research Database (Denmark)

    Sand, Freja Lærke; Munk, Christian; Jensen, Signe Marie

    2016-01-01

    Background: High-risk human papillomavirus (HPV) is essential for developing high-grade cervical intraepithelial neoplasia (CIN2 and CIN3) and has also been associated with noncervical anogenital cancers. However, limited knowledge exists about the long-term risk for anal, vulvar, and vaginal...

  7. Pertussis-associated persistent cough in previously vaccinated children.

    Science.gov (United States)

    Principi, Nicola; Litt, David; Terranova, Leonardo; Picca, Marina; Malvaso, Concetta; Vitale, Cettina; Fry, Norman K; Esposito, Susanna

    2017-11-01

    To evaluate the role of Bordetella pertussis infection, 96 otherwise healthy 7- to 17-year-old subjects who were suffering from a cough lasting from 2 to 8 weeks were prospectively recruited. At enrolment, a nasopharyngeal swab and an oral fluid sample were obtained to search for pertussis infection by the detection of B. pertussis DNA and/or an elevated titre of anti-pertussis toxin IgG. Evidence of pertussis infection was found in 18 (18.7 %; 95 % confidence interval, 11.5-28.0) cases. In 15 cases, the disease occurred despite booster administration. In two cases, pertussis was diagnosed less than 2 years after the booster injection, whereas in the other cases it was diagnosed between 2 and 9 years after the booster dose. This study used non-invasive testing to show that pertussis is one of the most important causes of long-lasting cough in school-age subjects. Moreover, the protection offered by acellular pertussis vaccines currently wanes more rapidly than previously thought.

  8. Clinical and immunological status of a newly diagnosed HIV positive ...

    African Journals Online (AJOL)

    Objective: To evaluate the clinical and the immune status of newly HIV diagnosed patients, in Marrakech city and its neighboring area, in Morocco. Methods: We performed a retrospective study on 235 patients who have been previously confirmed for HIV infection, and underwent a CD4 T cells using flow cytometry ...

  9. Diagnosing extracranial atherosclerotic diseases with spiral CT

    International Nuclear Information System (INIS)

    Moran, C.J.; Vannier, M.W.; Erickson, K.K.; Broderick, D.F.; Kido, D.K.; Yoffie, R.L.

    1991-01-01

    This paper reports that this discovery study was performed to determine whether extracranial carotid artery plaques could be diagnosed with a new CT technique (spiral CT) that allows nondistorted three-dimensional (3D) reconstructions in the z axis. Twenty carotid arteries were examined with spiral CT in normal volunteers and in patients suspected of having atherosclerotic plaques in the extracranial carotid arteries. The Somatom Plus CT table was advanced at a constant rate, the x-ray tube was continuously rotated, and 3D data were continuously acquired. Sixty milliliters of nonionic contrast medium was injected intravenously previous to and during the acquisition of data. The carotid bifurcations were identified in all patients. Planar images, similar to conventional intraarterial angiograms, were routinely produced from the volumetric CT data

  10. Method of diagnosing a nuclear power plant

    International Nuclear Information System (INIS)

    Tamaoki, Tetsuo; Kawano, Koji

    1983-01-01

    Purpose : To exactly diagnose a nuclear power plant even upon occurrence of an abnormal state. Method : A statistical data calculation device prepares multidimensional vectors on every statistical amount for the unit of flowrate, pressure, temperature and neutron flux data in a nuclear power plant. A comparison-and-reference device compares them with the statistical amount rendered into multi-dimensional vectors corresponding to the generation of abnormality on every time in a normal operation for each of the fluctuation amount stored in a comparison and reference-value-store device. The diagnosis device performs diagnosis while using both of the standard pattern previously prepared and stored in the comparison and standard-value-store device and the pattern learnt and stored in the comparison and reference-value-store device. (Seki, T.)

  11. Effect of family-oriented interviews on family function of young ...

    African Journals Online (AJOL)

    The outcome of a young person's future is affected by the support received from the family. Support that is received is related to the quality of family functioning of the young person. Family-oriented interview assesses the family of a patient who presents for consultation, through the patient. It diagnoses relationship issues in ...

  12. 77 FR 70176 - Previous Participation Certification

    Science.gov (United States)

    2012-11-23

    ... participants' previous participation in government programs and ensure that the past record is acceptable prior... information is designed to be 100 percent automated and digital submission of all data and certifications is... government programs and ensure that the past record is acceptable prior to granting approval to participate...

  13. On the Tengiz petroleum deposit previous study

    International Nuclear Information System (INIS)

    Nysangaliev, A.N.; Kuspangaliev, T.K.

    1997-01-01

    Tengiz petroleum deposit previous study is described. Some consideration about structure of productive formation, specific characteristic properties of petroleum-bearing collectors are presented. Recommendation on their detail study and using of experience on exploration and development of petroleum deposit which have analogy on most important geological and industrial parameters are given. (author)

  14. Subsequent pregnancy outcome after previous foetal death

    NARCIS (Netherlands)

    Nijkamp, J. W.; Korteweg, F. J.; Holm, J. P.; Timmer, A.; Erwich, J. J. H. M.; van Pampus, M. G.

    Objective: A history of foetal death is a risk factor for complications and foetal death in subsequent pregnancies as most previous risk factors remain present and an underlying cause of death may recur. The purpose of this study was to evaluate subsequent pregnancy outcome after foetal death and to

  15. Is Previous Respiratory Disease a Risk Factor for Lung Cancer?

    Science.gov (United States)

    Denholm, Rachel; Schüz, Joachim; Straif, Kurt; Stücker, Isabelle; Jöckel, Karl-Heinz; Brenner, Darren R.; De Matteis, Sara; Boffetta, Paolo; Guida, Florence; Brüske, Irene; Wichmann, Heinz-Erich; Landi, Maria Teresa; Caporaso, Neil; Siemiatycki, Jack; Ahrens, Wolfgang; Pohlabeln, Hermann; Zaridze, David; Field, John K.; McLaughlin, John; Demers, Paul; Szeszenia-Dabrowska, Neonila; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Dumitru, Rodica Stanescu; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Kendzia, Benjamin; Peters, Susan; Behrens, Thomas; Vermeulen, Roel; Brüning, Thomas; Kromhout, Hans

    2014-01-01

    Rationale: Previous respiratory diseases have been associated with increased risk of lung cancer. Respiratory conditions often co-occur and few studies have investigated multiple conditions simultaneously. Objectives: Investigate lung cancer risk associated with chronic bronchitis, emphysema, tuberculosis, pneumonia, and asthma. Methods: The SYNERGY project pooled information on previous respiratory diseases from 12,739 case subjects and 14,945 control subjects from 7 case–control studies conducted in Europe and Canada. Multivariate logistic regression models were used to investigate the relationship between individual diseases adjusting for co-occurring conditions, and patterns of respiratory disease diagnoses and lung cancer. Analyses were stratified by sex, and adjusted for age, center, ever-employed in a high-risk occupation, education, smoking status, cigarette pack-years, and time since quitting smoking. Measurements and Main Results: Chronic bronchitis and emphysema were positively associated with lung cancer, after accounting for other respiratory diseases and smoking (e.g., in men: odds ratio [OR], 1.33; 95% confidence interval [CI], 1.20–1.48 and OR, 1.50; 95% CI, 1.21–1.87, respectively). A positive relationship was observed between lung cancer and pneumonia diagnosed 2 years or less before lung cancer (OR, 3.31; 95% CI, 2.33–4.70 for men), but not longer. Co-occurrence of chronic bronchitis and emphysema and/or pneumonia had a stronger positive association with lung cancer than chronic bronchitis “only.” Asthma had an inverse association with lung cancer, the association being stronger with an asthma diagnosis 5 years or more before lung cancer compared with shorter. Conclusions: Findings from this large international case–control consortium indicate that after accounting for co-occurring respiratory diseases, chronic bronchitis and emphysema continue to have a positive association with lung cancer. PMID:25054566

  16. Endoscopic Third Ventriculostomy in Previously Shunted Children

    Directory of Open Access Journals (Sweden)

    Eva Brichtova

    2013-01-01

    Full Text Available Endoscopic third ventriculostomy (ETV is a routine and safe procedure for therapy of obstructive hydrocephalus. The aim of our study is to evaluate ETV success rate in therapy of obstructive hydrocephalus in pediatric patients formerly treated by ventriculoperitoneal (V-P shunt implantation. From 2001 till 2011, ETV was performed in 42 patients with former V-P drainage implantation. In all patients, the obstruction in aqueduct or outflow parts of the fourth ventricle was proved by MRI. During the surgery, V-P shunt was clipped and ETV was performed. In case of favourable clinical state and MRI functional stoma, the V-P shunt has been removed 3 months after ETV. These patients with V-P shunt possible removing were evaluated as successful. In our group of 42 patients we were successful in 29 patients (69%. There were two serious complications (4.7%—one patient died 2.5 years and one patient died 1 year after surgery in consequence of delayed ETV failure. ETV is the method of choice in obstructive hydrocephalus even in patients with former V-P shunt implantation. In case of acute or scheduled V-P shunt surgical revision, MRI is feasible, and if ventricular system obstruction is diagnosed, the hydrocephalus may be solved endoscopically.

  17. Subsequent childbirth after a previous traumatic birth.

    Science.gov (United States)

    Beck, Cheryl Tatano; Watson, Sue

    2010-01-01

    Nine percent of new mothers in the United States who participated in the Listening to Mothers II Postpartum Survey screened positive for meeting the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for posttraumatic stress disorder after childbirth. Women who have had a traumatic birth experience report fewer subsequent children and a longer length of time before their second baby. Childbirth-related posttraumatic stress disorder impacts couples' physical relationship, communication, conflict, emotions, and bonding with their children. The purpose of this study was to describe the meaning of women's experiences of a subsequent childbirth after a previous traumatic birth. Phenomenology was the research design used. An international sample of 35 women participated in this Internet study. Women were asked, "Please describe in as much detail as you can remember your subsequent pregnancy, labor, and delivery following your previous traumatic birth." Colaizzi's phenomenological data analysis approach was used to analyze the stories of the 35 women. Data analysis yielded four themes: (a) riding the turbulent wave of panic during pregnancy; (b) strategizing: attempts to reclaim their body and complete the journey to motherhood; (c) bringing reverence to the birthing process and empowering women; and (d) still elusive: the longed-for healing birth experience. Subsequent childbirth after a previous birth trauma has the potential to either heal or retraumatize women. During pregnancy, women need permission and encouragement to grieve their prior traumatic births to help remove the burden of their invisible pain.

  18. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  19. Work-Home Interference, Perceived Total Workload, and the Risk of Future Sickness Absence Due to Stress-Related Mental Diagnoses Among Women and Men: a Prospective Twin Study.

    Science.gov (United States)

    Svedberg, Pia; Mather, Lisa; Bergström, Gunnar; Lindfors, Petra; Blom, Victoria

    2018-02-01

    Work-home interference has been proposed as an important explanation for sickness absence (SA). Previous studies show mixed results, have not accounted for familial factors (genetics and shared everyday environment), or investigated diagnosis specific SA. The aim was to study whether work-home interference and perceived total workload predict SA due to stress-related mental diagnoses, or SA due to other mental diagnoses, among women and men, when adjusting for various confounders and familial factors. This study included 11,916 twins, 19-47 years (49% women). Data on work-to-home and home-to-work conflicts, perceived total workload, and relevant confounders were derived from a 2005 survey, and national register data on SA spells until 2013 were obtained. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Discordant twin pair design was applied to adjust for familial factors. Each one unit increase in work-to-home and home-to-work conflicts, and perceived total workload was associated with higher odds for SA due to stress-related mental diagnoses and to SA due to other mental diagnoses among women, when adjusting for sociodemographic factors (ORs 1.15-1.31). Including health or familial factors, no associations remained. For men, each one unit increase in work-to-home conflicts was associated with higher odds for SA due to stress-related diagnoses (ORs 1.23-1.35), independently of confounders. Work-to-home conflict was independently associated with future SA due to stress-related diagnoses among men only. Health- and work-related factors seem to be important confounders when researching work-home interference, perceived total workload, and SA. Not including such confounders involves risking drawing incorrect conclusions. Further studies are needed to confirm sex differences and whether genetic factors are important for the associations studied.

  20. Febrile urticaria in a family: uncommon manifestation of a common disease.

    Science.gov (United States)

    Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

    2012-12-15

    Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

  1. Family Therapy

    Science.gov (United States)

    Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

  2. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  3. The family Cyclobacteriaceae

    Digital Repository Service at National Institute of Oceanography (India)

    AnilKumar, P.; Srinivas, T.N.R.

    , carotenoid biosynthesis, antibiotic resistance, and quorum-sensing regulation were found Pathogenicity is not reported among the Cyclobacteriaceae members This contribution is a modified and updated version of previous family descriptions (Nedashkovskaya OI...

  4. Diagnosing Diabetes and Learning about Prediabetes

    Science.gov (United States)

    ... Listen En Español Diagnosing Diabetes and Learning About Prediabetes There are several ways to diagnose diabetes. Each ... or equal to 200 mg/dl What is Prediabetes? Before people develop type 2 diabetes, they almost ...

  5. Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

    NARCIS (Netherlands)

    Kallenberg, F.G.J.

    2017-01-01

    Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

  6. Multiple familial trichoepithelioma: a rare cutaneous tumour

    International Nuclear Information System (INIS)

    Arfan-ul-Bari; Simeen-ber-Rehman

    2004-01-01

    Multiple familial trichoepithelioma (MFT) is a rare autosomal dominant skin disease that presents as many small tumours predominantly on the face. We report a case of multiple familial trichoepithelioma occurring in three members of a family. They were diagnosed simultaneously. Only one was treated with medium depth chemical peeling with partial response. (author)

  7. Fragile X syndrome – a common disease rarely diagnosed

    Directory of Open Access Journals (Sweden)

    Lisik Malgorzata Zofia

    2017-03-01

    Full Text Available Fragile X syndrome (FXS is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and with strong association with autism. The study was conducted on 23 males (10-32 years old who had full mutation in the FMR1 gene. A complete medical evaluation, including medical history, family history, psychological testing and physical examination was conducted on each subject. Three of the FXS patients (13% were isolated cases of mental retardation in the family. The remaining 20 FXS patients belonged to 15 families, where there were other mentally retarded family members present. The degree of mental retardation (MR varied. Mild MR was diagnosed in 1/23 (4.35%, moderate MR in 12/23 (52.17%, severe MR in 10/23 (43.48 %. Moreover, autism spectrum disorder was diagnosed in 5/23 (21.74% FXS patients. Analysis of the BMI showed that in FXS patients, 14 of 23 (60.68% had too high body weight - 9/23 (39.13% were overweight and 5/23 (21.74% were obese. The diagnosis of FXS is difficult because of nonspecific symptoms, yet early diagnosis is crucial for early intervention and genetic counseling. The risk of recurrence is 50%.

  8. Parental anxiety associated with Kawasaki disease in previously healthy children.

    Science.gov (United States)

    Chahal, Nita; Clarizia, Nadia A; McCrindle, Brian W; Boydell, Katherine M; Obadia, Maya; Manlhiot, Cedric; Dillenburg, Rejane; Yeung, Rae S M

    2010-01-01

    The objective of this study was to explore the lived experience of parents of children diagnosed with Kawasaki disease (KD) and to identify factors associated with increased levels of parental anxiety. Three focus groups were conducted including 25 parents of 17 patients with KD, seven (41%) of whom had coronary artery complications. A conceptual model was developed to depict parental experiences and illustrate the key issues related to heightened anxiety. Themes identified included anxiety related to the child's sudden illness and delay in obtaining a correct diagnosis because of the lack of health care providers' awareness and knowledge regarding KD. Parents were frustrated by the lack of information available in lay language and the limited scientific knowledge regarding the long-term consequences of the disease. Parents also reported positive transformations and different perspective toward challenges in life. However, the parents of children with coronary artery complications expressed persistent anxiety even years after the acute phase of the illness due to the uncertainty of the long-term prognosis. There remains a critical need for richly textured research data on the perspective and experience of families of children with KD. Copyright 2010 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  9. Family First? The Costs and Benefits of Family Centrality for Adolescents with High-Conflict Families.

    Science.gov (United States)

    Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H

    2018-02-01

    Youth who do not identify with or value their families (i.e., low family centrality) are considered to be at risk for maladjustment. However, the current study investigated whether low family centrality may be adaptive in negative family contexts (i.e., high family conflict) because youth's self-worth should be less tied to the quality of their family relationships. Multilevel models using daily diaries and latent variable interactions using longitudinal questionnaires indicated that, among a sample of 428 Mexican American adolescents (49.8% male, M age  = 15.02 years), lower family centrality was generally detrimental to youth's well-being. However, for youth in adverse family environments, low family centrality ceased to function as a risk factor. The present findings suggest that family centrality values play a more nuanced role in youth well-being than previously believed, such that low family centrality may be an adaptive response to significant family challenges.

  10. Books average previous decade of economic misery.

    Science.gov (United States)

    Bentley, R Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

    2014-01-01

    For the 20(th) century since the Depression, we find a strong correlation between a 'literary misery index' derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade.

  11. Books Average Previous Decade of Economic Misery

    Science.gov (United States)

    Bentley, R. Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

    2014-01-01

    For the 20th century since the Depression, we find a strong correlation between a ‘literary misery index’ derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade. PMID:24416159

  12. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  13. Sigmoid-vaginal fistula during bevacizumab treatment diagnosed by fistulography.

    Science.gov (United States)

    Hayashi, C; Takada, S; Kasuga, A; Shinya, K; Watanabe, M; Kano, H; Takayama, T

    2016-12-01

    There have been several reports describing rectovaginal fistula development after bevacizumab treatment, and these fistulas were diagnosed by CT scan or colonoscopy. We report a case of sigmoid-vaginal fistula diagnosed by fistulography. The case is a 53-year-old woman who was treated for chronic myelogenous leukaemia and gynaecological cancers 8 years previously. At 52 years of age, she was diagnosed with colon cancer and had a partial colectomy performed. One year after surgery, colon cancer recurred, and she was treated with anticancer agents, including bevacizumab. During chemotherapy, she complained of a foul smelling discharge from the vagina. Fistulography revealed a sigmoid-vaginal fistula. This is the first report of vaginal fistulography performed on a patient who was treated with bevacizumab. Fistulography may be useful for detecting sigmoid-vaginal fistula. © 2016 John Wiley & Sons Ltd.

  14. Noninfectious differential diagnoses of pneumonia

    International Nuclear Information System (INIS)

    Wielandner, A.; Toelly, A.; Agarwal, P.; Bardach, C.

    2017-01-01

    In patients with a clinical suspicion of pneumonia, typical clinical and laboratory features along with the detection of infiltrates on chest X-ray are as a rule considered diagnostic and therapy is immediately initiated; however, studies have shown that in up to 5% of patients with an initial suspicion of pneumonia, another noninfectious pulmonary disease was the underlying cause. Early recognition and differentiation of diseases mimicking pneumonia are prerequisites for an adequate therapy. The aim of this review is to present the important noninfectious differential diagnoses of pneumonia and to provide the reader with tools for a systematic diagnostic approach. A literature search was carried out. As alterations in the lungs often result in similar imaging appearances and a differentiation between transudates, exsudates, blood and cells is not feasible by chest X-ray or CT, a systematic approach is essential to make an appropriate diagnosis. Hence, consideration of the temporal course, predominant pattern, distribution of findings, additional findings and clinical presentation are indispensable. (orig.) [de

  15. Underestimation of Severity of Previous Whiplash Injuries

    Science.gov (United States)

    Naqui, SZH; Lovell, SJ; Lovell, ME

    2008-01-01

    INTRODUCTION We noted a report that more significant symptoms may be expressed after second whiplash injuries by a suggested cumulative effect, including degeneration. We wondered if patients were underestimating the severity of their earlier injury. PATIENTS AND METHODS We studied recent medicolegal reports, to assess subjects with a second whiplash injury. They had been asked whether their earlier injury was worse, the same or lesser in severity. RESULTS From the study cohort, 101 patients (87%) felt that they had fully recovered from their first injury and 15 (13%) had not. Seventy-six subjects considered their first injury of lesser severity, 24 worse and 16 the same. Of the 24 that felt the violence of their first accident was worse, only 8 had worse symptoms, and 16 felt their symptoms were mainly the same or less than their symptoms from their second injury. Statistical analysis of the data revealed that the proportion of those claiming a difference who said the previous injury was lesser was 76% (95% CI 66–84%). The observed proportion with a lesser injury was considerably higher than the 50% anticipated. CONCLUSIONS We feel that subjects may underestimate the severity of an earlier injury and associated symptoms. Reasons for this may include secondary gain rather than any proposed cumulative effect. PMID:18201501

  16. [Electronic cigarettes - effects on health. Previous reports].

    Science.gov (United States)

    Napierała, Marta; Kulza, Maksymilian; Wachowiak, Anna; Jabłecka, Katarzyna; Florek, Ewa

    2014-01-01

    Currently very popular in the market of tobacco products have gained electronic cigarettes (ang. E-cigarettes). These products are considered to be potentially less harmful in compared to traditional tobacco products. However, current reports indicate that the statements of the producers regarding to the composition of the e- liquids not always are sufficient, and consumers often do not have reliable information on the quality of the product used by them. This paper contain a review of previous reports on the composition of e-cigarettes and their impact on health. Most of the observed health effects was related to symptoms of the respiratory tract, mouth, throat, neurological complications and sensory organs. Particularly hazardous effects of the e-cigarettes were: pneumonia, congestive heart failure, confusion, convulsions, hypotension, aspiration pneumonia, face second-degree burns, blindness, chest pain and rapid heartbeat. In the literature there is no information relating to passive exposure by the aerosols released during e-cigarette smoking. Furthermore, the information regarding to the use of these products in the long term are not also available.

  17. Psychiatric diagnoses are not mental processes: Wittgenstein on conceptual confusion.

    Science.gov (United States)

    Rosenman, Stephen; Nasti, Julian

    2012-11-01

    Empirical explanation and treatment repeatedly fail for psychiatric diagnoses. Diagnosis is mired in conceptual confusion that is illuminated by Ludwig Wittgenstein's later critique of philosophy (Philosophical Investigations). This paper examines conceptual confusions in the foundation of psychiatric diagnosis from some of Wittgenstein's important critical viewpoints. Diagnostic terms are words whose meanings are given by usages not definitions. Diagnoses, by Wittgenstein's analogy with 'games', have various and evolving usages that are connected by family relationships, and no essence or core phenomenon connects them. Their usages will change according to the demands and contexts in which they are employed. Diagnoses, like many psychological terms, such as 'reading' or 'understanding', are concepts that refer not to fixed behavioural or mental states but to complex apprehensions of the relationship of a variety of behavioural phenomena with the world. A diagnosis is a sort of concept that cannot be located in or explained by a mental process. A diagnosis is an exercise in language and its usage changes according to the context and the needs it addresses. Diagnoses have important uses but they are irreducibly heterogeneous and cannot be identified with or connected to particular mental processes or even with a unity of phenomena that can be addressed empirically. This makes understandable not only the repeated failure of empirical science to replicate or illuminate genetic, neurophysiologic, psychic or social processes underlying diagnoses but also the emptiness of a succession of explanatory theories and treatment effects that cannot be repeated or stubbornly regress to the mean. Attempts to fix the meanings of diagnoses to allow empirical explanation will and should fail as there is no foundation on which a fixed meaning can be built and it can only be done at the cost of the relevance and usefulness of diagnosis.

  18. Korean sibling caregivers of individuals diagnosed with schizophrenia

    Directory of Open Access Journals (Sweden)

    Mijung Park

    2017-12-01

    Full Text Available Siblings of individuals diagnosed with schizophrenia are an important source of family caregiving. Unfortunately, limited information is available about sibling caregivers because existing studies have focused on other family relationships such as parents, spouses, and children. To fill the knowledge gap, the purpose of this study is to describe Korean sibling caregivers’ experience with individuals diagnosed with schizophrenia. Guided by Colaizzi’s descriptive phenomenological methodology, we conducted in-depth, semi-structured, face-to-face interviews with eight individuals who have a sibling (1 diagnosed with schizophrenia and (2 hospitalized in an inpatient psychiatric unit. We discerned six key themes: sorrow, burnout, shame, different perspectives in life, acceptance, and responsibility. We categorized these themes into three groups: suffering, hope, and responsibility and obligation. Sibling caregivers of individuals with schizophrenia experience a mixture of several emotions. Participants loved their brother or sister with schizophrenia, but at the same time they felt shame and fear. While they were burdened by the responsibilities of caregiving, they remained loyal to their sibling with schizophrenia, continuing to help their siblings reach their full potential. Although participants were confused about the symptoms of schizophrenia, they were committed to learning more about the illness. Because we conducted the current study in Korea, the findings of this study may be unique to Korea culture. Further studies are needed to compare and contrast nuanced differences in sibling caregivers’ experience among different cultural groups.

  19. Familial Transient Global Amnesia

    Directory of Open Access Journals (Sweden)

    R.Rhys Davies

    2012-12-01

    Full Text Available Following an episode of typical transient global amnesia (TGA, a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.

  20. Diagnósticos de enfermagem do Padrão Mover em idosos de uma comunidade atendida pelo Programa Saúde da Família Diagnósticos de enfermería del Patrón Movimiento en ancianos asistidos por el Programa Salud de la Familia Nursing diagnoses of the Pattern of Mobility in the elderly attended by the Family Health Program

    Directory of Open Access Journals (Sweden)

    Lorena Aparecida de Oliveira Araújo

    2005-03-01

    la edad. Percibimos que existen características específicas de la muestra que sugieren la necesidad de que cada equipo del Programa Salud de la Familia evalúe su respectiva clientela a fin de orientar intervenciones precoces y apropiadas.With aging there is an increase of the occurrence of incapacity and risk of loss of mobility in the elderly. Our objective was to study the occurrence of 22 Nursing Diagnoses of the Moving Pattern in elderly people in relation to frequency, sex and age. It is an exploratory study that involved 75 elders assisted by a team of the Family Health Program in Goiânia, State of Goiás. We found that 97.3% of the sample presented one or more diagnoses. The most frequent diagnoses were Impaired Physical Mobility (90.7%, Pattern of the Disturbed Sleep (89.4% and Inefficient Health Upkeep (75.9%. We did not find statistically significant difference in the frequency of diagnoses among men and women. We identified statistically significant difference between the frequency of diagnoses and age. We noticed that there are specific characteristics of the sample that suggest the need for each team of Health Family Program to evaluate its clientele in order to direct early appropriate interventions.

  1. Family Meals

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Family Meals KidsHealth / For Parents / Family Meals What's in ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  2. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  3. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  4. Family Issues

    Science.gov (United States)

    ... Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much ...

  5. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  6. High-Grade Leiomyosarcoma Arising in a Previously Replanted Limb

    Directory of Open Access Journals (Sweden)

    Tiffany J. Pan

    2015-01-01

    Full Text Available Sarcoma development has been associated with genetics, irradiation, viral infections, and immunodeficiency. Reports of sarcomas arising in the setting of prior trauma, as in burn scars or fracture sites, are rare. We report a case of a leiomyosarcoma arising in an arm that had previously been replanted at the level of the elbow joint following traumatic amputation when the patient was eight years old. He presented twenty-four years later with a 10.8 cm mass in the replanted arm located on the volar forearm. The tumor was completely resected and pathology examination showed a high-grade, subfascial spindle cell sarcoma diagnosed as a grade 3 leiomyosarcoma with stage pT2bNxMx. The patient underwent treatment with brachytherapy, reconstruction with a free flap, and subsequently chemotherapy. To the best of our knowledge, this is the first case report of leiomyosarcoma developing in a replanted extremity. Development of leiomyosarcoma in this case could be related to revascularization, scar formation, or chronic injury after replantation. The patient remains healthy without signs of recurrence at three-year follow-up.

  7. Diagnosing autism: Contemporaneous surveys of parent needs and paediatric practice.

    Science.gov (United States)

    Hennel, Sabine; Coates, Cathy; Symeonides, Christos; Gulenc, Alisha; Smith, Libby; Price, Anna Mh; Hiscock, Harriet

    2016-05-01

    Concurrence between parents' information needs and clinicians' practice when diagnosing autism is unknown but may influence families' uptake of management and adjustment. We aimed to compare parents' experience and preferences with paediatrician report of (i) diagnosis delivery and (ii) information given at diagnosis and identify types and usefulness of resources accessed by families post-diagnosis. The design used for the study are parent and paediatrician surveys. Participants are parents of children aged 1.5-18 years, diagnosed with autism between 01 January 2010 and 30 September 2012 and their paediatricians who are members of the Australian Paediatric Research Network. Study-designed quantitative and qualitative questions about diagnosis delivery and information given at diagnosis (written and spoken vs. neither) and parent perceived importance and harms of information accessed post-diagnosis. Paediatricians (53/198 (27%)) identified 1127 eligible families, of whom 404 (36%) participated. Parents were more likely to report receiving adequate time to discuss diagnosis than paediatricians (71 vs. 51%). Parents (98%) rated information about accessing allied health professionals and the meaning of diagnosis as most important, yet paediatricians offered written or spoken information about each infrequently (allied health: 22%; diagnosis: 42%). Post-diagnosis, allied health was the most important source of information (83%). Harmful resources conveyed helplessness or non-evidenced-based therapies, but few parents (14%) reported this. Parents want more information than can be conveyed in a single diagnostic consultation. Developing a tailored 'autism action plan' with written materials could improve parents' understanding of and satisfaction with children's autism diagnoses. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  8. Living with children diagnosed with Autism Spectrum Disorder: Parental and professional views

    OpenAIRE

    Dillenburger, Karola; Keenan, Mickey; Dogherty, Alvyn; Byrne, Tony; Gallagher, Stephen

    2010-01-01

    The number of children diagnosed with an autistic spectrum disorder (ASD) is rising and is now thought to be as high as 1:100. While the debate about best treatment continues, the effects of having a child diagnosed with ASD on family life remain relatively unexplored. This article, by Karola Dillenburger of Queens University Belfast, Mickey Keenan of the University of Ulster, Alvin Doherty from the Health Service Executive Western Region, Tony Byrne of Parents’ Education as Autism Therapists...

  9. Diagnosing lynch syndrome in absence of colorectal cancer.

    Science.gov (United States)

    Lynch, Henry T; Knezetic, Joseph; Lanspa, Stephen

    2012-11-01

    There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

  10. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

    Science.gov (United States)

    Renner, Christian; Connor, William E; Steiner, Robert D

    2016-06-01

    A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she subsequently presented with giant platelets, the case was presented to colleagues on an electronic mailing list. It was recommended that plasma and sterol analysis be performed, which led to a diagnosis of sitosterolemia. The presentation of profound hypercholesterolomia in childhood that ultimately is not attributed as due to homozygous or compound heterozygous defects in the LDL receptor gene has been termed pseudohomozygous familial (or type II) hypercholesterolemia (PHT2HC). Patients diagnosed with PHT2HC subsequently confirmed to have sitosterolemia have been previously reported only rarely. The challenge of achieving accurate specific diagnosis and appropriate workup for these conditions in children is discussed in the context of this rare case and review of the historical literature concerning these conditions. © 2016 Marshfield Clinic.

  11. Support for Teens When a Family Member has Cancer

    Science.gov (United States)

    When a parent, brother, or sister has been diagnosed with cancer, family members need extra support. Information to help teens learn how to cope, talk with family members, manage stress, and get support from counselors when a loved one has been diagnosed with, or is being treated for, cancer.

  12. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  13. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

    Science.gov (United States)

    January, Kathleen; Conway, Laura J; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E

    2016-06-01

    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. Diagnosed Intellectual and Emotional Impairment among Parents Who Seriously Mistreat Their Children: Prevalence, Type, and Outcome in a Court Sample.

    Science.gov (United States)

    Taylor, Carol G.; And Others

    1991-01-01

    This study examined the court records of 206 seriously abused or neglected children and their families in a large urban area and found that in over half the records a parent had been diagnosed as having an emotional disorder and/or low intelligence, with a majority of these diagnoses indicating significant impairment. (Author/DB)

  15. Difficult diagnoses in the skeletal radiology

    International Nuclear Information System (INIS)

    Freyschmidt, Juergen

    2013-01-01

    The book on difficult diagnoses in the skeletal radiology discusses the path from symptom to diagnoses including image interpretation. Specific case studies concern the skull, the spinal cord, pelvis, shoulder and chest, upper and lower extremities. The used radiological techniques include projecting radiography, computerized tomography, scintiscanning, PET/CT, NNR imaging and ultrasonography.

  16. From experience : applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, J.A.; Halman, J.I.M.; Song, X.M.

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and

  17. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... website. Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open ... Diagnosed with Cancer You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation ...

  18. Immunoparesis in newly diagnosed Multiple Myeloma patients

    DEFF Research Database (Denmark)

    Sorrig, Rasmus; Klausen, Tobias W.; Salomo, Morten

    2017-01-01

    Immunoparesis (hypogammaglobulinemia) is associated to an unfavorable prognosis in newly diagnosed Multiple myeloma (MM) patients. However, this finding has not been validated in an unselected population-based cohort. We analyzed 2558 newly diagnosed MM patients in the Danish Multiple Myeloma...

  19. From experience: applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, Jimme A.; Halman, Johannes I.M.; Song, Michael

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and

  20. The failure diagnoses of nuclear reactor systems

    International Nuclear Information System (INIS)

    Sheng Huanxing.

    1986-01-01

    The earlier period failure diagnoses can raise the safety and efficiency of nuclear reactors. This paper first describes the process abnormality monitoring of core barrel vibration in PWR, inherent noise sources in BWR, sodium boiling in LMFBR and nuclear reactor stability. And then, describes the plant failure diagnoses of primary coolant pumps, loose parts in nuclear reactors, coolant leakage and relief valve location

  1. Is parental competitive ability in winter negatively affected by previous springs' family size?

    NARCIS (Netherlands)

    Fokkema, Rienk W; Ubels, Richard; Tinbergen, Joost M

    2017-01-01

    Reproductive behavior cannot be understood without taking the local level of competition into account. Experimental work in great tits (Parus major) showed that (1) a survival cost of reproduction was paid in environments with high levels of competition during the winter period and (2)

  2. Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

    Science.gov (United States)

    Williams, Fred; Hunter, Steven; Bradley, Lisa; Chahal, Harvinder S; Storr, Helen L; Akker, Scott A; Kumar, Ajith V; Orme, Stephen M; Evanson, Jane; Abid, Noina; Morrison, Patrick J; Korbonits, Márta; Atkinson, A Brew

    2014-04-01

    Germline AIP mutations usually cause young-onset acromegaly with low penetrance in a subset of familial isolated pituitary adenoma families. We describe our experience with a large family with R304* AIP mutation and discuss some of the diagnostic dilemmas and management issues. The aim of the study was to identify and screen mutation carriers in the family. Forty-three family members participated in the study. The study was performed in university hospitals. We conducted genetic and endocrine screening of family members. We identified 18 carriers of the R304* mutation, three family members with an AIP-variant A299V, and two family members who harbored both changes. One of the two index cases presented with gigantism and pituitary apoplexy, the other presented with young-onset acromegaly, and both had surgery and radiotherapy. After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly. They underwent transsphenoidal surgery after a short period of somatostatin analog treatment. One of these two patients is in remission; the other achieved successful pregnancy despite suboptimal control of acromegaly. One of the A299V carrier family members was previously diagnosed with a microprolactinoma; we consider this case to be a phenocopy. Height of the unaffected R304* carrier family members is not different compared to noncarrier relatives. Families with AIP mutations present particular problems such as the occurrence of large invasive tumors, poor response to medical treatment, difficulties with fertility and management of pregnancy, and the finding of AIP sequence variants of unknown significance. Because disease mostly develops at a younger age and penetrance is low, the timing and duration of the follow-up of carriers without overt disease requires further study. The psychological and financial impact of prolonged clinical screening must be considered. Excellent relationships between the family, endocrinologists, and

  3. Relationships between diagnoses of sexually transmitted infections and urinary tract infections among male service members diagnosed with urethritis, active component, U.S. Armed Forces, 2000-2013.

    Science.gov (United States)

    2014-07-01

    A previous MSMR report found that 42.8% of all incident (first-time) urinary tract infections (UTIs) in males, but only 0.4% of such UTIs in females, were diagnosed as "urethritis, unspecified" (ICD-9: 597.80). This study explored the possibility that many of the diagnoses of urethritis in males represented sexually transmitted infections (STIs), even though ICD-9: 597.80 is explicitly reserved for cases of urethritis that are deemed to not be sexually transmitted. Examined were relationships between diagnoses of urethritis, diagnoses of STIs, and recurrent diagnoses of UTIs. Male service members who received a diagnosis of "urethritis, unspecified" (ICD-9: 597.80) had an increased risk of a subsequent UTI diagnosis, especially of "urethritis, unspecified," compared to all male service members. Most service members who were diagnosed with "urethritis, unspecified" had no documented diagnoses of an STI in their Military Health System health records; however, recurrent UTIs were more common among service members who did have documented STIs. The most commonly diagnosed STIs in this study were "other non-gonococcal urethritis" (which includes that caused by Chlamydia trachomatis) and gonorrhea.

  4. Familial chondrocalcinosis in the Spanish population.

    Science.gov (United States)

    Fernandez Dapica, M P; Gómez-Reino, J J

    1986-06-01

    We have found in our clinic a 28.1% prevalence of familial chondrocalcinosis among 149 family members of 32 patients with calcium pyrophosphate dihydrate deposition disease. The clinical and radiological characteristics of these familial chondrocalcinosis patients were similar to those of the Chiloes with familial chondrocalcinosis previously reported. No significant clinical or radiological differences were detected between our sporadic and familial chondrocalcinosis patients. Our findings support the hypothesis that the Chiloes familial chondrocalcinosis was carried to Chile by Spanish immigrants.

  5. Family Violence and Family Physicians

    Science.gov (United States)

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  6. Validation studies of nursing diagnoses in neonatology

    Directory of Open Access Journals (Sweden)

    Pavlína Rabasová

    2016-03-01

    Full Text Available Aim: The objective of the review was the analysis of Czech and foreign literature sources and professional periodicals to obtain a relevant comprehensive overview of validation studies of nursing diagnoses in neonatology. Design: Review. Methods: The selection criterion was studies concerning the validation of nursing diagnoses in neonatology. To obtain data from relevant sources, the licensed professional databases EBSCO, Web of Science and Scopus were utilized. The search criteria were: date of publication - unlimited; academic periodicals - full text; peer-reviewed periodicals; search language - English, Czech and Slovak. Results: A total of 788 studies were found. Only 5 studies were eligible for content analysis, dealing specifically with validation of nursing diagnoses in neonatology. The analysis of the retrieved studies suggests that authors are most often concerned with identifying the defining characteristics of nursing diagnoses applicable to both the mother (parents and the newborn. The diagnoses were validated in the domains Role Relationship; Coping/Stress tolerance; Activity/Rest, and Elimination and Exchange. Diagnoses represented were from the field of dysfunctional physical needs as well as the field of psychosocial and spiritual needs. The diagnoses were as follows: Parental role conflict (00064; Impaired parenting (00056; Grieving (00136; Ineffective breathing pattern (00032; Impaired gas exchange (00030; and Impaired spontaneous ventilation (00033. Conclusion: Validation studies enable effective planning of interventions with measurable results and support clinical nursing practice.

  7. Depression diagnoses following the identification of bipolar disorder: costly incongruent diagnoses

    Directory of Open Access Journals (Sweden)

    Schultz Jennifer F

    2010-06-01

    Full Text Available Abstract Background Previous research has documented that the symptoms of bipolar disorder are often mistaken for unipolar depression prior to a patient's first bipolar diagnosis. The assumption has been that once a patient receives a bipolar diagnosis they will no longer be given a misdiagnosis of depression. The objectives of this study were 1 to assess the rate of subsequent unipolar depression diagnosis in individuals with a history of bipolar disorder and 2 to assess the increased cost associated with this potential misdiagnosis. Methods This study utilized a retrospective cohort design using administrative claims data from 2002 and 2003. Patient inclusion criteria for the study were 1 at least 2 bipolar diagnoses in 2002, 2 continuous enrollment during 2002 and 2003, 3 a pharmacy benefit, and 4 age 18 to 64. Patients with at least 2 unipolar depression diagnoses in 2003 were categorized as having an incongruent diagnosis of unipolar depression. We used propensity scoring to control for selection bias. Utilization was evaluated using negative binomial models. We evaluated cost differences between patient cohorts using generalized linear models. Results Of the 7981 patients who met all inclusion criteria for the analysis, 17.5% (1400 had an incongruent depression diagnosis (IDD. After controlling for background differences, individuals who received an IDD had higher rates of inpatient and outpatient psychiatric utilization and cost, on average, an additional $1641 per year compared to individuals without an IDD. Conclusions A strikingly high proportion of bipolar patients are given the differential diagnosis of unipolar depression after being identified as having bipolar disorder. Individuals with an IDD had increased acute psychiatric care services, suggesting higher levels of relapses, and were at risk for inappropriate treatment, as antidepressant therapy without a concomitant mood-stabilizing medication is contraindicated in bipolar

  8. Twelve previously unknown phage genera are ubiquitous in global oceans.

    Science.gov (United States)

    Holmfeldt, Karin; Solonenko, Natalie; Shah, Manesh; Corrier, Kristen; Riemann, Lasse; Verberkmoes, Nathan C; Sullivan, Matthew B

    2013-07-30

    Viruses are fundamental to ecosystems ranging from oceans to humans, yet our ability to study them is bottlenecked by the lack of ecologically relevant isolates, resulting in "unknowns" dominating culture-independent surveys. Here we present genomes from 31 phages infecting multiple strains of the aquatic bacterium Cellulophaga baltica (Bacteroidetes) to provide data for an underrepresented and environmentally abundant bacterial lineage. Comparative genomics delineated 12 phage groups that (i) each represent a new genus, and (ii) represent one novel and four well-known viral families. This diversity contrasts the few well-studied marine phage systems, but parallels the diversity of phages infecting human-associated bacteria. Although all 12 Cellulophaga phages represent new genera, the podoviruses and icosahedral, nontailed ssDNA phages were exceptional, with genomes up to twice as large as those previously observed for each phage type. Structural novelty was also substantial, requiring experimental phage proteomics to identify 83% of the structural proteins. The presence of uncommon nucleotide metabolism genes in four genera likely underscores the importance of scavenging nutrient-rich molecules as previously seen for phages in marine environments. Metagenomic recruitment analyses suggest that these particular Cellulophaga phages are rare and may represent a first glimpse into the phage side of the rare biosphere. However, these analyses also revealed that these phage genera are widespread, occurring in 94% of 137 investigated metagenomes. Together, this diverse and novel collection of phages identifies a small but ubiquitous fraction of unknown marine viral diversity and provides numerous environmentally relevant phage-host systems for experimental hypothesis testing.

  9. Pulmonary Aspergillosis in a Previously Healthy 13-Year-Old Boy

    Directory of Open Access Journals (Sweden)

    Jonathan H. Rayment

    2016-01-01

    Full Text Available Chronic granulomatous disease (CGD is a rare, polygenic primary immunodeficiency. In this case report, we describe a previously healthy 13-year-old boy who presented with multifocal pulmonary aspergillosis and was subsequently diagnosed with an autosomal recessive form of chronic granulomatous disease. CGD has a variable natural history and age of presentation and should be considered when investigating a patient with recurrent or severe infections with catalase-positive organisms.

  10. The Consistency Between Clinical and Electrophysiological Diagnoses

    Directory of Open Access Journals (Sweden)

    Esra E. Okuyucu

    2009-09-01

    Full Text Available OBJECTIVE: The aim of this study was to provide information concerning the impact of electrophysiological tests in the clinical management and diagnosis of patients, and to evaluate the consistency between referring clinical diagnoses and electrophysiological diagnoses. METHODS: The study included 957 patients referred to the electroneuromyography (ENMG laboratory from different clinics with different clinical diagnoses in 2008. Demographic data, referring clinical diagnoses, the clinics where the requests wanted, and diagnoses after ENMG testing were recorded and statistically evaluated. RESULTS: In all, 957 patients [644 (67.3% female and 313 (32.7% male] were included in the study. Mean age of the patients was 45.40 ± 14.54 years. ENMG requests were made by different specialists; 578 (60.4% patients were referred by neurologists, 122 (12.8% by orthopedics, 140 (14.6% by neurosurgeons, and 117 (12.2% by physical treatment and rehabilitation departments. According to the results of ENMG testing, 513 (53.6% patients’ referrals were related to their referral diagnosis, whereas 397 (41.5% patients had normal ENMG test results, and 47 (4.9% patients had a diagnosis that differed from the referring diagnosis. Among the relation between the referral diagnosis and electrophysiological diagnosis according to the clinics where the requests were made, there was no statistical difference (p= 0.794, but there were statistically significant differences between the support of different clinical diagnoses, such as carpal tunnel syndrome, polyneuropathy, radiculopathy-plexopathy, entrapment neuropathy, and myopathy based on ENMG test results (p< 0.001. CONCLUSION: ENMG is a frequently used neurological examination. As such, referrals for ENMG can be made to either support the referring diagnosis or to exclude other diagnoses. This may explain the inconsistency between clinical referring diagnoses and diagnoses following ENMG

  11. Multiple Levels of Family Factors and Oppositional Defiant Disorder Symptoms Among Chinese Children.

    Science.gov (United States)

    Lin, Xiuyun; Li, Longfeng; Heath, Melissa A; Chi, Peilian; Xu, Shousen; Fang, Xiaoyi

    2018-03-01

    Family factors are closely associated with child developmental outcomes. This study examined the relationship of oppositional defiant disorder (ODD) symptoms and factors at whole family, dyadic, and individual levels in Chinese children. Participants, who were recruited from 14 primary schools in north, east, and south-west China, included 80 father-child dyads and 169 mother-child dyads. Children in the participating dyads were previously diagnosed with ODD. Results revealed that family cohesion/adaptability was indirectly associated with ODD symptoms via parent-child relationship and child emotion regulation. Parent-child relationship affected ODD symptoms directly and indirectly through child emotion regulation. In addition, the effects of family cohesion/adaptability on parent emotion regulation and child emotion regulation were mediated by the parent-child relationship. The tested model provides a comprehensive framework of how family factors at multiple levels are related to child ODD symptoms and highlights the importance of understanding child emotional and behavioral problems within the family context, more specifically within the multiple levels of family relationships. © 2016 Family Process Institute.

  12. Predicting parental distress among children newly diagnosed with craniopharyngioma.

    Science.gov (United States)

    Peterson, Rachel K; Ashford, Jason M; Scott, Sarah M; Wang, Fang; Zhang, Hui; Bradley, Julie A; Merchant, Thomas E; Conklin, Heather M

    2018-06-22

    Childhood brain tumor diagnoses are stressful for families. Children diagnosed with craniopharyngioma (Cp) present with particularly challenging medical and cognitive problems due to tumor location and associated biophysiologic comorbidities. This study examined parental distress in a sample of families of patients with Cp treated with proton beam therapy to identify factors for targeting psychological intervention. Prior to (n = 96) and 1 year after (n = 73) proton therapy, parents of children diagnosed with Cp (9.81 ± 4.42 years at baseline; 49% male) completed a self-report measure of distress, the Brief Symptom Inventory (BSI). Children completed cognitive assessment measures at baseline; medical variables were extracted from the study database. At baseline, t-tests revealed parents reported higher levels of distress than normative expectations on Anxiety, Depression, Global Severity, and Positive Symptom Distress BSI scales (P < 0.05). Linear mixed effects models revealed parent report measures of child executive dysfunction and behavioral issues were more predictive of parental distress than patients' cognitive performance or medical status (P < 0.05). Models also revealed a significant reduction only in Anxiety over time (t = -2.19, P < 0.05). Extensive hypothalamic involvement at baseline predicted this reduction (P < 0.05). Parents experience significant distress before their child begins adjuvant therapy for Cp, though parental distress appears largely unrelated to medical complications and more related to parent perceptions of child cognitive difficulties (vs. child performance). Importantly, this may be explained by a negative parent reporting style among distressed parents. Knowledge of socio-emotional functioning in parents related to patient characteristics is important for optimization of psychological intervention. © 2018 Wiley Periodicals, Inc.

  13. [Parathyroid cancer in a patient with previous history of hypernephroma: a clinical case].

    Science.gov (United States)

    Martín Navarro, J; Mendoza, E; Mateos, P; Cereceda, A; Coca, S

    2007-01-01

    We report the clinical case of a 55 year-old male patient, with a previous history of nephrectomy by hypernephroma sixteen years ago, first presenting hypercalcemia and rising of intact parathyroid hormone (iPTH) levels. A localization study revealed an intrathyroid nodule with cystic appearance. After undergoing a hemi-thyroidectomy, the patient is diagnosed with parathyroid carcinoma. This article analyzes previously published cases presenting parathyroidal pathologies associated with hypernephroma. A broader differential diagnosis--including the screening of parathyroidal pathologies should be considered in patients with hypercalcemia and hypernephroma.

  14. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  15. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  16. Decision Profiles of Mexican-Descent Families.

    Science.gov (United States)

    Baker, Georgianne

    An exploratory study of decision-making in families of Mexican heritage was carried out in Phoenix, Arizona. A Normative model of decision rationality and measurement (Family Problem Instrument-FPI) was adapted from previous research. Tape-recorded data were provided by 27 families. Husbands and wives responded separately to family decision…

  17. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... options further? Fertility Preservation - Where Does It Fit? Options for Fertility Preservation The following diagram gives a brief description of fertility preservation options available to children diagnosed with cancer before and ...

  18. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Not an option if there is a high risk of ovarian metastases. Discuss with your doctor. b ... an IRB . Resources For more information about infertility risk and fertility preservation options for children diagnosed with ...

  19. How Do Health Care Providers Diagnose Vaginitis?

    Science.gov (United States)

    ... used to diagnose vaginitis. 1 Centers for Disease Control and Prevention. (2010). Self-study STD ... Halvorson New Chief of Gynecologic Health and Disease Branch Division of Epidemiology, Statistics, ...

  20. Fertility Preservation for Children Diagnosed with Cancer

    Science.gov (United States)

    ... Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open menu ... with Cancer You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for ...

  1. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult survivors of childhood cancer ... study approved by an IRB . Resources For more information about infertility risk and fertility preservation options for ...

  2. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... be fertility preservation options available and having your child see a reproductive specialist in a timely manner ... there are options for preserving fertility in your child diagnosed with cancer. You may be focused on ...

  3. Mondor's Disease of the Breast in a Nigerian Woman Previously ...

    African Journals Online (AJOL)

    It is seldom diagnosed, and its etiology and epidemiology ... breast cancer have been postulated. ... breast specialists to include it as a diagnostic consideration in patients presenting .... had subsided, and the repeat ultrasound scan of her right.

  4. At få en diagnose

    DEFF Research Database (Denmark)

    Olesen, Birgitte Ravn; Jansbøl, Kirsten

    I dette hæfte ligger fokus på døvblindblevnes fortællinger om at have et handicap uden at kende sin diagnose og om at håndtre at få diagnosen RP eller Usher syndrom. Det er karakteristisk for fortællingerne, at det har stor betydning - hvornår i livet, man får sin diagnose - under hvilke...

  5. Challenges in diagnosing tuberculosis in children

    DEFF Research Database (Denmark)

    Rahman, Nadia; Pedersen, Karin Kæreby; Rosenfeldt, Vibeke

    2012-01-01

    Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country.......Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country....

  6. Family Issues

    Science.gov (United States)

    ... es Autismo? Family Issues Home / Living with Autism / Family Issues Stress Siblings A child’s autism diagnosis affects every member of the family in different ways. Parents/caregivers must now place their ... may put stress on their marriage, other children, work, finances, and ...

  7. Use of bayesian operations for diagnosing accidents

    International Nuclear Information System (INIS)

    Kang, K.M.; Jae, M.; Suh, K.Y.

    2005-01-01

    In complex systems, it is necessary to model a logical representation of the overall system interaction with respect to the individual subsystems. Operators are allowed to follow EOPs (Emergency Operating Procedures) when reactor tripped because of accidents. But, it's very difficult to diagnose accidents and find out appropriate procedures to mitigate current accidents in a given short time. Even if they diagnose accidents, it also has possibility to misdiagnose. TMI accident is a good example of operators' errors. Methodology using Influence Diagrams has been developed and applied for representing the dependency behaviors and uncertain behaviors of complex systems. An example to diagnose the accidents such as SLOCA and SGTR with similar symptoms has been introduced. From the constructed model, operators could diagnose accidents at any states of accidents. This model can offer the information about accidents with given symptoms. This model might help operators to diagnose correctly and rapidly. It might be very useful to support operators to reduce human error. Also, from this study, it is applicable to diagnose other accidents with similar symptoms and to analyze causes of reactor trip. (authors)

  8. Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: analysis of 618 probands and their families from the Liège AAA Family Study.

    Science.gov (United States)

    Sakalihasan, Natzi; Defraigne, Jean-Olivier; Kerstenne, Marie-Ange; Cheramy-Bien, Jean-Paul; Smelser, Diane T; Tromp, Gerard; Kuivaniemi, Helena

    2014-05-01

    The objectives were to answer the following questions with the help of a well-characterized population in Liège, Belgium: 1) what percentage of patients with abdominal aortic aneurysm (AAA) have a positive family history for AAA? 2) what is the prevalence of AAAs among relatives of patients with AAA? and 3) do familial and sporadic AAA cases differ in clinical characteristics? Patients with unrelated AAA diagnosed at the Cardiovascular Surgery Department, University Hospital of Liège, Belgium, between 1999 and 2012 were invited to the study. A detailed family history was obtained in interviews and recorded using Progeny software. We divided the 618 patients into 2 study groups: group I, 296 patients with AAA (268; 91% men) were followed up with computerized tomography combined with positron emission tomography; and group II, 322 patients with AAA (295; 92% men) whose families were invited to ultrasonographic screening. In the initial interview, 62 (10%) of the 618 patients with AAA reported a positive family history for AAA. Ultrasonographic screening identified 24 new AAAs among 186 relatives (≥50 years) of 144 families yielding a prevalence of 13%. The highest prevalence (25%) was found among brothers. By combining the number of AAAs found by ultrasonographic screening with those diagnosed previously the observed lifetime prevalence of AAA was estimated to be 32% in brothers. The familial AAA cases were more likely to have a ruptured AAA than the sporadic cases (8% vs. 2.4%; P AAA among brothers, support genetic contribution to AAA pathogenesis, and provide rationale for targeted screening of relatives of patients with AAA. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Communication Among Melanoma Family Members

    Science.gov (United States)

    Bowen, Deborah J; Albrecht, Terrance; Hay, Jennifer; Eggly, Susan; Harris-Wei, Julie; Meischke, Hendrika; Burke, Wylie

    2017-01-01

    Interventions to improve communication among family members may facilitate information flow about familial risk and preventive health behaviors. This is a secondary analysis of the effects of an interactive website intervention aimed at increasing communication frequency and agreement about health risk among melanoma families. Participants were family units, consisting of one family member with melanoma identified from a previous research study (the case) and an additional first degree relative and a parent of a child 0–17. Family triads were randomized to receive access to the website intervention or to serve as control families. Family communication frequency and agreement about melanoma prevention behaviors and beliefs were measured at baseline and again at one year post randomization. Intervention participants of all three types significantly increased the frequency of communication to their first degree relatives (Parents, siblings, children; range =14–18 percentage points; all pcommunication about cancer risk. PMID:28248624

  10. Jamaican families.

    Science.gov (United States)

    Miner, Dianne Cooney

    2003-01-01

    The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

  11. Validation of cardiovascular diagnoses in the Greenlandic Hospital Discharge Register for epidemiological use

    DEFF Research Database (Denmark)

    Tvermosegaard, Maria; Ronn, Pernille Falberg; Pedersen, Michael Lynge

    2018-01-01

    not previously been validated specifically. The objective of the study was to validate diagnoses of CVD in GHDR. The study was conducted as a validation study with primary investigator comparing information in GHDR with information in medical records. Diagnoses in GHDR were considered correct and thus valid......Cardiovascular disease (CVD) is one of the leading causes of death worldwide. In Greenland, valid estimates of prevalence and incidence of CVD do not exist and can only be calculated if diagnoses of CVD in the Greenlandic Hospital Discharge Register (GHDR) are correct. Diagnoses of CVD in GHDR have...... if they matched the diagnoses or the medical information in the medical records. A total of 432 online accessible medical records with a cardiovascular diagnosis according to GHDR from Queen Ingrid's Hospital from 2001 to 2013 (n=291) and from local health care centres from 2007 to 2013 (n=141) were reviewed...

  12. Moya - Moya syndrome: Diagnose by means of magnetic resonance

    International Nuclear Information System (INIS)

    Borrero Borrero, Leonidas; Henao Gomez, Liliana; Hernandez Castro, John Jairo

    1997-01-01

    We present a case of moya-moya syndrome diagnosed by means of study of magnetic resonance angiography (MRA) in an eight-year old patient with Seckel syndrome and progressive neurological deficit of several years, characterized by left hemi paresis and gait limitation as well as microcephalus. Previous imaging studies included cerebral CT (CCT) that showed several infarctions, without affecting a particular vascular territory. The MRA study was carried out in a 1.5 t system. Besides confirming the CCT findings, it demonstrated characteristic images of the moya - moya syndrome. This is the first case published in Colombia

  13. Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Adem Kucuk

    2014-01-01

    Full Text Available Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.

  14. A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

    Science.gov (United States)

    Akoury, Elie; El Zir, Elie; Mansour, Ahmad; Mégarbané, André; Majewski, Jacek; Slim, Rima

    2011-11-01

    To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.

  15. Delayed Diagnoses: Nonspecific Findings and Diagnostic Challenges in Eating Disorders

    Directory of Open Access Journals (Sweden)

    Dan Schwarz

    2009-01-01

    Full Text Available Objective. Eating disorders commonly present with nonspecific findings, masquerading as other, more common etiologies of malnutrition and wasting. In low-prevalence populations, these ambiguities can complicate clinicians’ diagnostic reasoning, resulting in delayed or missed diagnoses. Method. We report the atypical case of a 51-year-old male with a five-year history of unexplained weight loss despite extensive past medical evaluation. Previous documentation of profound lymphopenia and bone marrow atrophy had not been linked to a known association with eating disorders. Results. Evaluation for medical etiologies of wasting was negative. Following psychiatric evaluation, the patient was diagnosed with an eating disorder, not otherwise specified, and admitted to a specialized nutritional rehabilitation program. Conclusion. The nonspecific clinical history, physical exam, and laboratory abnormalities of eating disorders can make these diagnoses challenging and delay appropriate treatment. Clinicians should consider eating disorders in patients with malnutrition, severe lymphopenias, and gelatinous marrow transformation early in their workup, so as to avoid potentially negative outcomes.

  16. Sacrococcygeal pilonidal disease: analysis of previously proposed risk factors

    Directory of Open Access Journals (Sweden)

    Ali Harlak

    2010-01-01

    Full Text Available PURPOSE: Sacrococcygeal pilonidal disease is a source of one of the most common surgical problems among young adults. While male gender, obesity, occupations requiring sitting, deep natal clefts, excessive body hair, poor body hygiene and excessive sweating are described as the main risk factors for this disease, most of these need to be verified with a clinical trial. The present study aimed to evaluate the value and effect of these factors on pilonidal disease. METHOD: Previously proposed main risk factors were evaluated in a prospective case control study that included 587 patients with pilonidal disease and 2,780 healthy control patients. RESULTS: Stiffness of body hair, number of baths and time spent seated per day were the three most predictive risk factors. Adjusted odds ratios were 9.23, 6.33 and 4.03, respectively (p<0.001. With an adjusted odds ratio of 1.3 (p<.001, body mass index was another risk factor. Family history was not statistically different between the groups and there was no specific occupation associated with the disease. CONCLUSIONS: Hairy people who sit down for more than six hours a day and those who take a bath two or less times per week are at a 219-fold increased risk for sacrococcygeal pilonidal disease than those without these risk factors. For people with a great deal of hair, there is a greater need for them to clean their intergluteal sulcus. People who engage in work that requires sitting in a seat for long periods of time should choose more comfortable seats and should also try to stand whenever possible.

  17. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    Science.gov (United States)

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. A comparison of morbidity associated with placenta previa with and without previous caesarean sections

    International Nuclear Information System (INIS)

    Baqai, S.; Siraj, A.; Noor, N.

    2018-01-01

    To compare the morbidity associated with placenta previa with and without previous caesarean sections. Study Design: Retrospective comparative study. Place and Duration of Study: From March 2014 till March 2016 in the department of Obstetrics and Gynaecology at PNS Shifa hospital Karachi. Material and Methods: After the approval from hospital ethical committee, antenatal patients with singleton pregnancy of gestational age >32 weeks, in the age group of 20-40 years diagnosed to have placenta previa included in the study. All patients with twin pregnancy less than 20 years and more than 40 years of age were excluded. The records of all patients fulfilling the inclusion criteria were reviewed. Data had been collected for demographic and maternal variables, placenta previa, history of previous lower segment caesarean section (LSCS), complications associated with placenta previa and techniques used to control blood loss were recorded. Results: During the study period, 6879 patients were delivered in PNS Shifa, out of these, 2060 (29.9%) had caesarean section out of these, 47.3% patients had previous history of LSCS. Thirty three (1.6%) patients were diagnosed to have placenta previa and frequency of placenta previa was significantly higher in patients with previous history of LSCS than previous normal delivery of LSCS i.e. 22 vs. 11 (p=0.023). It was observed that the frequency of morbidly adherent placenta (MAP) and Intensive care unit (ICU) stay were significantly higher in patients with previous history of LSCS than previous history of normal delivery. Conclusion: Frequency of placenta previa was significantly higher in patients with history of LSCS. Also placenta previa remains a major risk factor for various maternal complications. (author)

  19. Trends in HIV diagnoses and testing among U.S. adolescents and young adults.

    Science.gov (United States)

    Hall, H Irene; Walker, Frances; Shah, Daxa; Belle, Eboni

    2012-01-01

    The Centers for Disease Control and Prevention recommends routine HIV screening in health care settings. Using national surveillance data, we assessed trends in HIV diagnoses and testing frequency in youth aged 13-24 diagnosed with HIV in 2005-2008. Diagnosis rates increased among black (17.0% per year), Hispanic (13.5%), and white males (8.8%), with increases driven by men who have sex with men (MSM). A higher percentage of white males and MSM had previously been tested than their counterparts. No increases in diagnoses or differences in testing were observed among females. Intensified interventions are needed to reduce HIV infections and racial/ethnic disparities.

  20. Neuropsychological and psychological interventions for people with newly diagnosed epilepsy.

    Science.gov (United States)

    Jackson, Cerian F; Makin, Selina M; Baker, Gus A

    2015-07-22

    population. This study was rated as low quality. One study assessed a specialist nurse intervention in an adult population. This study was rating as very low quality.We rated one study as having unclear risk of bias and one study as having high risk of bias.The CBI study indicated that this intervention could significantly reduce depressive symptoms in people with subthreshold depressive disorder. However, the study assessing the effectiveness of a nurse intervention found no significant benefit for depressive symptoms,but did find that in individuals with the least knowledge of epilepsy, a nurse intervention could increase their knowledge of epilepsy scores. Meta-analysis was not possible as we identified only two studies and they utilised different interventions and outcome measures.Previous research has highlighted the impact of psychological and neuropsychological difficulties experienced by people with epilepsy and the negative effect this has on their quality of life. The main finding of this review is that there is a paucity of research assessing possible neuropsychological and psychological interventions for adults with newly diagnosed epilepsy.

  1. The ICD diagnoses of fetishism and sadomasochism.

    Science.gov (United States)

    Reiersøl, Odd; Skeid, Svein

    2006-01-01

    In this article we discuss psychiatric diagnoses of sexual deviation as they appear in the International Classification of Diseases (ICD-10), the internationally accepted classification and diagnostic system of the World Health Organization (WHO). Namely, we discuss the background of three diagnostic categories: Fetishism (F65.0), Fetishistic Transvestism (F65.1), and Sadomasochism (F65.5). Pertinent background issues regarding the above categories are followed by a critique of the usefulness of diagnosing these phenomena today. Specifically, we argue that Fetishism, Fetishistic Transvestism, and Sadomasochism, also labeled Paraphilia or perversion, should not be considered illnesses. Finally, we present the efforts of an initiative known as ReviseF65, which was established in 1997, to abolish these diagnoses.

  2. Reliability of clinical ICD-10 schizophrenia diagnoses

    DEFF Research Database (Denmark)

    Jakobsen, Klaus D; Frederiksen, Julie N; Hansen, Thomas

    2005-01-01

    Concern has been expressed as to the reliability of clinical ICD-10 diagnosis of schizophrenia. This study was designed to assess the diagnostic reliability of the clinical ICD-10 diagnosis of schizophrenia in a random sample of Danish in- and outpatients with a history of psychosis. A sample...... value (87%) of ICD-10 schizophrenia and an overall good agreement between clinical and OPCRIT-derived diagnoses (kappa=0.60). An even higher positive predictive value was obtained when diagnoses were amalgamated into a diagnostic entity of schizophrenia-spectrum disorders (98%). Near perfect agreement...... was seen between OPCRIT-derived ICD-10 and DSM-IV diagnoses (kappa=0.87). Thus, this study demonstrates high reliability of the clinical diagnosis of schizophrenia and even more so of the diagnosis of schizophrenia-spectrum disorder....

  3. Experiences of being diagnosed with osteoporosis

    DEFF Research Database (Denmark)

    Rothmann, Mette Juel; Jakobsen, P R; Myhre Jensen, Charlotte

    2018-01-01

    This systematic review provides synthesised knowledge and guidance to health professionals on the experiences and perspectives of being diagnosed with osteoporosis from the patient's point of view. Using individuals' experiences and meanings can promote tailored and targeted information...... an individual's experience of being diagnosed with osteoporosis at different stages, and secondly, to use a systematic approach to develop a conceptual understanding of central issues relevant for health professionals in order to provide support and guidance to patients/individuals. METHODS: This study used...... of the diagnosis based on self-perceived fracture risk, self-perceived severity of osteoporosis and at the same time, self-perceived health. CONCLUSIONS: This meta-synthesis provides knowledge for health professionals on the experiences and perspectives of being diagnosed with osteoporosis from the patient's point...

  4. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  5. Perceived Family Resources Based on Number of Members with ADHD

    Science.gov (United States)

    Corwin, Melinda; Mulsow, Miriam; Feng, Du

    2012-01-01

    Objective: This study examines how the number of family members with ADHD affects other family members' perceived resources. Method: A total of 40 adolescents diagnosed with ADHD and their mothers, fathers, and adolescent siblings living in the household participated. Hierarchical linear modeling was used to analyze family-level data from a total…

  6. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  7. [Community pneumonia - fundamentals of diagnosing and treatment].

    Science.gov (United States)

    Kolek, Vítězslav

    Pneumonia is the most serious respiratory disease which causes more than 3 000 deaths per year in the Czech Republic. Community-acquired pneumonia is contracted in the ordinary life environment outside of hospitals, its development is caused by known infectious agents which mostly exhibit satisfactory sensitivity to antibiotics. Diagnosing, prevention and treatment of the disease are described including considerations of individual evaluation of the risk of complications and possible death. The strategy of administering antibiotics is discussed.Key words: antibiotics - community-acquired pneumonias - diagnosing - treatment.

  8. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikk...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  9. Community families

    DEFF Research Database (Denmark)

    Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen

    2017-01-01

    : Qualitative interviews with members of volunteer families. Discussion: The families were motivated by helping a vulnerable person and to engaging in a rewarding relationship. However, the families often doubted their personal judgment and relied on mental health workers to act as safety net. Conclusion......Background: Social interventions targeted at people with severe mental illness (SMI) often include volunteers. Volunteers' perspectives are important for these interventions to work. The present paper investigates the experiences of volunteer families who befriend a person with SMI. Material...

  10. Molecular study of the perforin gene in familial hematological malignancies

    Directory of Open Access Journals (Sweden)

    El Abed Rim

    2011-09-01

    Full Text Available Abstract Perforin gene (PRF1 mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81. Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein.

  11. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    Science.gov (United States)

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  12. Family profiles in eating disorders: family functioning and psychopathology

    Directory of Open Access Journals (Sweden)

    Cerniglia L

    2017-10-01

    Full Text Available Luca Cerniglia,1 Silvia Cimino,2 Mimma Tafà,2 Eleonora Marzilli,2 Giulia Ballarotto,2 Fabrizia Bracaglia2 1Faculty of Psychology, International Telematic University UNINETTUNO, 2Department of Dynamic and Clinical Psychology, University of Rome “La Sapienza”, Rome, Italy Abstract: Research has studied family functioning in families of patients suffering from eating disorders (EDs, particularly investigating the associations between mothers’ and daughters’ psychopathological symptoms, but limited studies have examined whether there are specific maladaptive psychological profiles characterizing the family as a whole when it includes adolescents with anorexia nervosa (AN, bulimia nervosa (BN, and binge eating disorder (BED. Through the collaboration of a network of public and private consultants, we recruited n=181 adolescents diagnosed for EDs (n=61 with AN, n=60 with BN, and n=60 with BEDs and their parents. Mothers, fathers, and youths were assessed through a self-report measure evaluating family functioning, and adolescents completed a self-report questionnaire assessing psychopathological symptoms. Results showed specific family functioning and psychopathological profiles based on adolescents’ diagnosis. Regression analyses also showed that family functioning characterized by rigidity predicted higher psychopathological symptoms. Our study underlines the importance of involving all members of the family in assessment and intervention programs when adolescent offspring suffer from EDs. Keywords: family functioning, eating disorders, adolescents, psychopathological risk

  13. This is My Family

    OpenAIRE

    Yeğen, Hale Nur; Çetin, Merve

    2017-01-01

    Me and my family, Families poem, Mother-Father, Brother-Sister, Grandparents, Uncle-Aunt, Cousin, Family, Family handgame, My family tree, Activities (Three In a Family), Digital Games, A family poem, Quiz

  14. Hope as experienced in women newly diagnosed with gynaecological cancer

    DEFF Research Database (Denmark)

    Hammer, Kristianna; Mogensen, Ole; Hall, Elisabeth O C

    2009-01-01

    cancer diagnosis made the women oscillate between hope and hopelessness, between positive expectations of getting cured and frightening feelings of the disease taking over. Five major interrelated themes of hope were identified: hope of being cured, cared for and getting back to normal, hope as being...... at a gynaecological department of a Danish university hospital. The women, aged 24-87 (median 52yrs), were diagnosed with ovarian, endometrial, cervical and vulvar cancer. RESULTS: Hope was found to be connected to both diagnosis, cure, family life and life itself and closely tied to hopelessness. The newly received...... active and feeling well, hope as an internal power to maintain integration, hope as significant relationships and hope as fighting against hopelessness. Thus, hope was woven together with hopelessness in a mysterious way; it took command through inner strength and courage based on a trust in being cured...

  15. Conceptualizations of illness among relatives of patients diagnosed with schizophrenia.

    Science.gov (United States)

    Villares, Cecília C; Redko, Cristina P; Mari, Jair J

    2017-06-01

    Family concepts of a relative's illness are an important part of the coping process and reveal the cultural construction of the experience of illness. As part of a qualitative study conducted in the Schizophrenia Outpatient Clinic of the Department of Psychiatry, Escola Paulista de Medicina - UNIFESP, 14 relatives of eight outpatients diagnosed with schizophrenia were interviewed and invited to talk freely about their ideas and feelings concerning their relative's problem. Qualitative analysis was used to identify categories of illness representations. Three main categories were discussed, including Problema de Nervoso, Problema na Cabeça and Problema Espiritual (Problem of the Nerves, Problem in the Head and Spiritual Problem). The authors present evidence of these categories as cultural constructions, and discuss the relevance of popular notions of illness to the understanding of the course and outcome of schizophrenia, and the planning of culturally meaningful interventions.

  16. How Do Health Care Providers Diagnose Cushing's Syndrome?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose Cushing syndrome? Diagnosing Cushing syndrome can be complex and difficult. This syndrome is ... health care provider may try different tests. Diagnosing Cushing syndrome often requires several steps. If you are being ...

  17. Medicinalindustrien har brug for diagnoser som ADHD

    DEFF Research Database (Denmark)

    Fugl, Marie

    2008-01-01

    Det er ikke første gang, at medicinalindustriens evne til at finde nye markeder har medført nye eller bredere diagnoser. I det forrige årti så vi et parallelt forløb mellem et boom i antallet af depressionsdiagnoser og forbruget af lykkepiller. Interview med sociolog Thomas Brante. Udgivelsesdato...

  18. Pijnlijke temporomandibulaire disfuncties: diagnose en behandeling

    NARCIS (Netherlands)

    Lobbezoo, F.; Aarab, G.; Knibbe, W.; Koutris, M.; Warnsinck, C.J.; Wetselaar, P.; Visscher, C.M.

    2016-01-01

    Painful temporomandibular disorders (TMD pain) are common among the general population. The most common sub diagnoses are myalgia (jaw-muscle pain) and arthralgia (temporomandibular joint pain). The aetiology of TMD pain has a multifactorial nature, and its diagnosis and possible treatment often

  19. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... diagnosed with cancer. You may be focused on cancer treatment and your child’s immediate health. You may feel ... points can help start the conversation: Cancer and cancer treatment may affect my child’s fertility. Will my child’s ...

  20. Clinical heterogeneity in newly diagnosed Parkinson's disease

    NARCIS (Netherlands)

    Post, Bart; Speelman, Johannes D.; de Haan, Rob J.

    2008-01-01

    OBJECTIVE: To determine clinical heterogeneity in newly diagnosed Parkinson's disease using cluster analysis and to describe the subgroups in terms of impairment, disability, perceived quality of life, and use of dopaminergic therapy. METHODS: We conducted a k-means cluster analysis in a prospective

  1. Diagnosing risks in product-innovation projects

    NARCIS (Netherlands)

    Halman, Johannes I.M.; Keizer, J.A.

    A new method of diagnosing risks in product-innovation projects is introduced in the paper. The method is an improvement on existing risk methods used on product-innovation projects, such as potential problem analysis and failure mode and effects analysis. Technological, organizational and

  2. Diagnosing risks in product-innovation projects

    NARCIS (Netherlands)

    Halman, J.I.M.; Keizer, J.A.

    1994-01-01

    A new method of diagnosing risks in product-innovation projects is introduced in the paper. The method is an improvement on existing risk methods used on product-innovation projects, such as potential problem analysis and failure mode and effects analysis. Technological, organizational and

  3. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open menu ... with Cancer You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for ...

  4. High prevalence of tuberculosis diagnosed during autopsy ...

    African Journals Online (AJOL)

    The primary aims of tuberculosis (TB) control programmes is early diagnosis and prompt treatment of infectious cases to limit transmission. Failure to diagnose and adequately treat TB could lead to premature death and unrecognized transmission of Mycobacterium tuberculosis. The proportion of missed TB cases has not ...

  5. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... content SaveMyFertility An Online Fertility Preservation Toolkit for Patients and Their Providers Open menu Reprotopia_Main_Menu ... Cancer Fertility Preservation for Children Diagnosed with Cancer Patient Pocket Guides Patient Pocket Guides Patient Guides Fertility ...

  6. Chest Radiographic Findings in Newly Diagnosed Pulmonary ...

    African Journals Online (AJOL)

    Five hundred newly diagnosed cases of Pulmonary Tuberculosis were treated with directly observed short-course treatment and 100 of them had chest radiographic examination done. The various chest radiographic patterns in the 100 subjects were studied and included: Fluffy exudative changes 80(80%), fibrosis 70(70%) ...

  7. Remembering and diagnosing clients: Does experience matter?

    NARCIS (Netherlands)

    Witteman, C.L.M.; Tollenaar, M.S.

    2012-01-01

    Experienced mental health clinicians often do not outperform novices in diagnostic decision making. In this paper we look for an explanation of this phenomenon by testing differences in memory processes. In two studies we aimed to look at differences in accuracy of diagnoses in relation to free

  8. Diagnosing patients with longstanding shoulder joint pain

    DEFF Research Database (Denmark)

    Nørregaard, J; Krogsgaard, M R; Lorenzen, T

    2002-01-01

    OBJECTIVE: To examine the interobserver agreement of commonly used clinical tests and diagnoses in patients with shoulder pain, and the accuracy of these tests and ultrasonographic findings in comparison with arthroscopic findings. METHODS: Eighty six patients with longstanding shoulder joint pain...

  9. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available Sorry, you need to enable JavaScript to visit this website. Skip to main content SaveMyFertility An Online Fertility Preservation Toolkit for ... for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult survivors of childhood cancer ...

  10. Diagnosing Febrile Illness in a Returned Traveler

    Centers for Disease Control (CDC) Podcasts

    2012-03-01

    This podcast will assist health care providers in diagnosing febrile illness in patients returning from a tropical or developing country.  Created: 3/1/2012 by National Center for Enteric, Zoonotic, and Infectious Diseases (NCEZID).   Date Released: 3/1/2012.

  11. A pancreatic neuroendocrine tumor diagnosed during the ...

    African Journals Online (AJOL)

    Pancreatic neuroendocrine tumors (PNET) are increasingly being discovered. A case of PNET diagnosed and treated during the management of acute appendicitis is presented and discussed. The importance of imaging modalities in patients with acute abdominal pain is emphasized. To the best our knowledge, this is the ...

  12. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these ''families'' is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  13. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these families is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  14. Familial hypercholesterolemia

    Science.gov (United States)

    ... and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). The health care provider will ask questions about your personal and family medical history. There may be: A strong family history of ...

  15. FAMILY PYRGOTIDAE.

    Science.gov (United States)

    Mello, Ramon Luciano; Lamas, Carlos José Einicker

    2016-06-14

    Pyrgotidae is a family of endoparasitics flies of beetles with worldwide distribution. The Neotropical fauna is composed by 59 valid species names disposed in 13 genera. The occurrence of Pyrgota longipes Hendel is the first record of the family in Colombia.

  16. Wives without husbands: gendered vulnerability to sexually transmitted infections among previously married women in India.

    Science.gov (United States)

    Walters, Kimberly; Dandona, Rakhi; Walters, Lawrence C; Lakshmi, Vemu; Dandona, Lalit; Schneider, John A

    2012-01-01

    Using population-based and family structural data from a high HIV-prevalence district of Southern India, this paper considers four suggested social scenarios used to explain the positive correlation between HIV prevalence and previously married status among Indian women: (1) infection from and then bereavement of an infected husband; (2) abandonment after husbands learn of their wives' HIV status; (3) economic instability after becoming previously married, leading women to seek financial support through male partners; and (4) the social status of being previously married exposing women to sexual harassment and predation. By also considering seroprevalence of two other common sexually transmitted infections (STIs), herpes and syphilis, in a combined variable with HIV, we limit the likelihood of the first two scenarios accounting for the greater part of this correlation. Through a nuanced analysis of household residences patterns (family structure), standard of living, and education, we also limit the probability that scenario three explains a greater portion of the correlation. Scenario four emerges as the most likely explanation for this correlation, recognizing that other scenarios are also possible. Further, the interdisciplinary literature on the social position of previously married women in India strongly supports the suggestion that, as a population, previously married women are sexually vulnerable in India. Previously married status as an STI risk factor requires further biosocial research and warrants concentrated public health attention.

  17. Afghanistan and Iraq War Veterans: Mental Health Diagnoses are Associated with Respiratory Disease Diagnoses.

    Science.gov (United States)

    Slatore, Christopher G; Falvo, Michael J; Nugent, Shannon; Carlson, Kathleen

    2018-05-01

    Many veterans of the wars in Afghanistan and Iraq have concomitant respiratory conditions and mental health conditions. We wanted to evaluate the association of mental health diagnoses with respiratory disease diagnoses among post-deployment veterans. We conducted a retrospective cohort study of all Afghanistan and Iraq War veterans who were discharged from the military or otherwise became eligible to receive Veterans Health Administration services. The primary exposure was receipt of a mental health diagnosis and the primary outcome was receipt of a respiratory diagnosis as recorded in the electronic health record. We used multivariable adjusted logistic regression to measure the associations of mental health diagnoses with respiratory diagnoses and conducted several analyses exploring the timing of the diagnoses. Among 182,338 post-deployment veterans, 14% were diagnosed with a respiratory condition, 77% of whom had a concomitant mental health diagnosis. The incidence rates were 5,363/100,000 person-years (p-y), 587/100,000 p-y, 1,450/100,000 p-y, and 233/100,000 p-y for any respiratory disease diagnosis, bronchitis, asthma, and chronic obstructive lung disease diagnoses, respectively, after the date of first Veterans Health Administration utilization. Any mental health diagnosis was associated with increased odds for any respiratory diagnosis (adjusted odds ratio 1.41, 95% confidence interval 1.37-1.46). The association of mental health diagnoses and subsequent respiratory disease diagnoses was stronger and more consistent than the converse. Many Afghanistan and Iraq War veterans are diagnosed with both respiratory and mental illnesses. Comprehensive plans that include care coordination with mental health professionals and treatments for mental illnesses may be important for many veterans with respiratory diseases.

  18. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

    Science.gov (United States)

    Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat

    2015-06-01

    To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.

  19. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

    2003-01-01

    . The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

  20. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.

    Directory of Open Access Journals (Sweden)

    Laufey T Amundadottir

    2004-12-01

    Full Text Available BACKGROUND: The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. METHODS AND FINDINGS: We have estimated risk ratios (RRs of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives and for close (first- and second-degree and distant (third- to fifth-degree relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. CONCLUSION: We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.

  1. Impact of previously disadvantaged land-users on sustainable ...

    African Journals Online (AJOL)

    Impact of previously disadvantaged land-users on sustainable agricultural ... about previously disadvantaged land users involved in communal farming systems ... of input, capital, marketing, information and land use planning, with effect on ...

  2. Left ventricular asynergy score as an indicator of previous myocardial infarction

    International Nuclear Information System (INIS)

    Backman, C.; Jacobsson, K.A.; Linderholm, H.; Osterman, G.

    1986-01-01

    Sixty-eight patients with coronary heart disease (CHD) i.e. a hisotry of angina of effort and/or previous 'possible infarction' were examined inter alia with ECG and cinecardioangiography. A system of scoring was designed which allowed a semiquantitative estimate of the left ventricular asynergy from cinecardioangiography - the left ventricular motion score (LVMS). The LVMS was associated with the presence of a previous myocardial infarction (MI), as indicated by the history and ECG findings. The ECG changes specific for a previous MI were associated with high LVMS values and unspecific or absent ECG changes with low LVMS values. Decision thresholds for ECG changes and asynergy in diagnosing a previous MI were evaluated by means of a ROC analysis. The accuracy of ECG in detecting a previous MI was slightly higher when asynergy indicated a 'true MI' than when autopsy result did so in a comparable group. Therefore the accuracy of asynergy (LVMS ≥ 1) in detecting a previous MI or myocardial fibrosis in patients with CHD should be at least comparable with that of autopsy (scar > 1 cm). (orig.)

  3. Pregnancy in women suffering from familial hypercholesterolemia: a harmful period for both mother and newborn?

    NARCIS (Netherlands)

    Avis, Hans J.; Hutten, Barbara A.; Twickler, Marcel Th B.; Kastelein, John J. P.; van der Post, Joris A. M.; Stalenhoef, Anton F.; Vissers, Maud N.

    2009-01-01

    Purpose of review The present review aims to highlight the consequences for mother and child of profound hypercholesterolemia during pregnancy of women with familial hypercholesterolemia. Recent findings Familial hypercholesterolemia is increasingly diagnosed in younger patients due to the existence

  4. 22 CFR 40.91 - Certain aliens previously removed.

    Science.gov (United States)

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Certain aliens previously removed. 40.91... IMMIGRANTS UNDER THE IMMIGRATION AND NATIONALITY ACT, AS AMENDED Aliens Previously Removed § 40.91 Certain aliens previously removed. (a) 5-year bar. An alien who has been found inadmissible, whether as a result...

  5. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... fertility preservation and the ability to have a future family are important. Understanding there may be fertility ... specialist in a timely manner can improve their future quality of life. Introduction You may not be ...

  6. Sex ratio at birth in India, its relation to birth order, sex of previous children and use of indigenous medicine.

    Directory of Open Access Journals (Sweden)

    Samiksha Manchanda

    Full Text Available OBJECTIVE: Sex-ratio at birth in families with previous girls is worse than those with a boy. Our aim was to prospectively study in a large maternal and child unit sex-ratio against previous birth sex and use of traditional medicines for sex selection. MAIN OUTCOME MEASURES: Sex-ratio among mothers in families with a previous girl and in those with a previous boy, prevalence of indigenous medicine use and sex-ratio in those using medicines for sex selection. RESULTS: Overall there were 806 girls to 1000 boys. The sex-ratio was 720:1000 if there was one previous girl and 178:1000 if there were two previous girls. In second children of families with a previous boy 1017 girls were born per 1000 boys. Sex-ratio in those with one previous girl, who were taking traditional medicines for sex selection, was 928:1000. CONCLUSION: Evidence from the second children clearly shows the sex-ratio is being manipulated by human interventions. More mothers with previous girls tend to use traditional medicines for sex selection, in their subsequent pregnancies. Those taking such medication do not seem to be helped according to expectations. They seem to rely on this method and so are less likely use more definitive methods like sex selective abortions. This is the first such prospective investigation of sex ratio in second children looked at against the sex of previous children. More studies are needed to confirm the findings.

  7. Determining root correspondence between previously and newly detected objects

    Science.gov (United States)

    Paglieroni, David W.; Beer, N Reginald

    2014-06-17

    A system that applies attribute and topology based change detection to networks of objects that were detected on previous scans of a structure, roadway, or area of interest. The attributes capture properties or characteristics of the previously detected objects, such as location, time of detection, size, elongation, orientation, etc. The topology of the network of previously detected objects is maintained in a constellation database that stores attributes of previously detected objects and implicitly captures the geometrical structure of the network. A change detection system detects change by comparing the attributes and topology of new objects detected on the latest scan to the constellation database of previously detected objects.

  8. Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

    NARCIS (Netherlands)

    Stitziel, Nathan O.; Fouchier, Sigrid W.; Sjouke, Barbara; Peloso, Gina M.; Moscoso, Alessa M.; Auer, Paul L.; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A.; Melander, Olle; Orho-Melander, Marju; Duga, Stefano; Sivapalaratnam, Suthesh; Nikpay, Majid; Martinelli, Nicola; Girelli, Domenico; Jackson, Rebecca D.; Kooperberg, Charles; Lange, Leslie A.; Ardissino, Diego; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Reilly, Muredach P.; Rader, Daniel J.; de Faire, Ulf; Schunkert, Heribert; Erdmann, Jeanette; Samani, Nilesh J.; Charnas, Lawrence; Altshuler, David; Gabriel, Stacey; Kastelein, John J. P.; Defesche, Joep C.; Nederveen, Aart J.; Kathiresan, Sekar; Hovingh, G. Kees

    2013-01-01

    Objective Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not

  9. Benign colonic metaplasia at a previous stoma site in a patient without adenomatous polyposis.

    Science.gov (United States)

    Prouty, Megan; Patrawala, Samit; Vogt, Adam; Kelleher, Michael; Lee, Michael; Parker, Douglas C

    2016-03-01

    There are few reported cases of cutaneous intestinal metaplasia or primary adenocarcinoma arising at the ileostomy site following panproctocolectomy. These complications have been seen almost exclusively in patients with familial adenomatous polyposis and inflammatory bowel disease (IBD). However, benign intraepidermal colonic mucosa at a reversed ileostomy site in a patient without familial adenomatous polyposis or IBD has not been documented. We report a case of a 51-year-old female with a history of colonic adenocarcinoma who presented with pruritic, erythematous, scaly plaques on the right lower abdomen, present since reversal of her ileostomy in 2007. Skin biopsy revealed benign foci of colonic epithelium with no evidence of adenomatous change. Benign intraepidermal colonic mucosa was diagnosed based on histopathologic findings and immunohistochemistry. To our knowledge, this is the first case of intraepidermal benign colonic metaplasia forming in a patient following ostomy reversal. The case emphasizes the importance of patient education and physical examination of the stoma or stoma remnants for detection of unusual or changing lesions due to the risk for malignant transformation. It also demonstrates that benign colonic mucosa should be considered in the differential diagnosis when evaluating lesions near ileostomy sites, regardless of whether the patient has a history of familial adenomatous polyposis or IBD. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Five cases of neurocysticercosis diagnosed in Sydney.

    Science.gov (United States)

    Walker, J; Chen, S; Packham, D; McIntyre, P

    1991-12-01

    Cysticercosis, once rare in Australia, is now more frequently diagnosed. This change reflects the countries of origin of new immigrants and the destinations of Australians travelling. Five cases of neurocysticercosis diagnosed at Westmead Hospital in Sydney are described. Two involved Australians, a father and son who had visited eastern and southeastern Asia 10 years before presentation. The other three included immigrants from Chile and India and a visitor from Timor. Ages ranged from 5 to 57 years. Three individuals presented after focal seizures involving the upper limb, one had a long standing history of neurological dysfunction and one suffered from persistent headaches. In all cases computed tomographic scanning (CT) or magnetic resonance imaging (MRI) revealed cystic brain lesions and three of the five were seropositive as well. Four were treated with praziquantel and in one the lesions regressed significantly following treatment. However, the lesion in one case had decreased in size prior to treatment and that in the untreated individual also became smaller.

  11. The Burden of Diagnosed and Undiagnosed Diabetes in Native Hawaiian and Asian American Hospitalized Patients.

    Science.gov (United States)

    Sentell, T L; Cheng, Y; Saito, E; Seto, T B; Miyamura, J; Mau, M; Juarez, D T

    2015-12-01

    Little is known about diabetes in hospitalized Native Hawaiians and Asian Americans. We determined the burden of diabetes (both diagnosed and undiagnosed) among hospitalized Native Hawaiian, Asian (Filipino, Chinese, Japanese), and White patients. Diagnosed diabetes was determined from discharge data from a major medical center in Hawai'i during 2007-2008. Potentially undiagnosed diabetes was determined by Hemoglobin A1c ≥6.5% or glucose ≥200 mg/dl values for those without diagnosed diabetes. Multivariable log-binomial models predicted diabetes (potentially undiagnosed and diagnosed, separately) controlling for socio-demographic factors. Of 17,828 hospitalized patients, 3.4% had potentially undiagnosed diabetes and 30.5% had diagnosed diabetes. In multivariable models compared to Whites, Native Hawaiian and all Asian subgroups had significantly higher percentages of diagnosed diabetes, but not of potentially undiagnosed diabetes. Potentially undiagnosed diabetes was associated with significantly more hospitalizations during the study period compared to both those without diabetes and those with diagnosed diabetes. In all racial/ethnic groups, those with potentially undiagnosed diabetes also had the longest length of stay and were more likely to die during the hospitalization. Hospitalized Native Hawaiians (41%) and Asian subgroups had significantly higher overall diabetes burdens compared to Whites (23%). Potentially undiagnosed diabetes was associated with poor outcomes. Hospitalized patients, irrespective of race/ethnicity, may require more effective inpatient identification and management of previously undiagnosed diabetes to improve clinical outcomes.

  12. Case report patients diagnosed with rheumatoid arthritis

    OpenAIRE

    Váňová, Tereza

    2012-01-01

    Title of bachelors thesis: Case report patients diagnosed with rheumatoid arthritis Summary: The work is focused on diseases rheumatoid arthritis and its physiotherapy care. It consists of two parts. Part of the general anatomy of the joint contains a general, deals with the disease rheumatoid arthritis, its diagnosis, treatment and comprehensive rehabilitation treatment. Part has its own special case report physiotherapy sessions on this topic. Key words: rheumatoid arthritis, comprehensive ...

  13. Diagnose, behandling og prognose ved fibromyalgi

    DEFF Research Database (Denmark)

    Danneskiold-Samsøe, Bente; Bartels, Else Marie; Amris, Kirstine

    2010-01-01

    It is important to recognize the diagnosis of fibromyalgia (FM) to adequately advise patients with this chronic pain disease. FM coexists with other rheumatic diseases and may therefore serve as a confounder in connection with estimation of disease activity. The aetiology and pathogenesis of FM...... remain unknown, although central sensitisation seems to play a major role. Following exclusion of a number of differential diagnoses, the remaining patients have several treatment options including centrally-acting medication....

  14. GERD: Diagnosing and treating the burn.

    Science.gov (United States)

    Alzubaidi, Mohammed; Gabbard, Scott

    2015-10-01

    Gastroesophageal reflux disease (GERD) is chronic, very common, and frequently encountered in internal medicine and subspecialty clinics. It is often diagnosed on clinical grounds, but specialized testing such as endoscopy and pH monitoring may be necessary in certain patients. Although proton pump inhibitors (PPIs) are the mainstay of treatment, clinicians should be aware of their short-term and long-term side effects. Copyright © 2015 Cleveland Clinic.

  15. Research In Diagnosing Bearing Defects From Vibrations

    Science.gov (United States)

    Zoladz, T.; Earhart, E.; Fiorucci, T.

    1995-01-01

    Report describes research in bearing-defect signature analysis - use of vibration-signal analysis to diagnose defects in roller and ball bearings. Experiments performed on bearings in good condition and other bearings in which various parts scratched to provide known defects correlated with vibration signals. Experiments performed on highly instrumented motor-driven rotor assembly at speeds up to 10,050 r/min, using accelerometers, velocity probes, and proximity sensors mounted at various locations on assembly to measure vibrations.

  16. Verfahren zur genbasierten Diagnose eines Legasthenierisikos

    OpenAIRE

    Wilcke, Arndt; Ahnert, Peter; Kirsten, Holger; Ligges, Carolin; Boltze, Johannes

    2016-01-01

    Die vorliegende Erfindung betrifft ein Verfahren zur Diagnose eines Legasthenierisikos, umfassend die Schritte: a) Bereitstellung einer Nukleinsäure beinhaltenden Probe von einem zu diagnostizierenden Menschen, b) Bestimmung des Genotyps der Nukleinsäure der Probe für mindestens eine chromosomale Region, ausgewählt aus der Gruppe bestehend aus der Region von Nukleotid 12091000 bis 12200000 des Chromosoms 1, der Region von Nukleotid 89066000 bis 89088000 des Chromosoms 15, der Region von Nukle...

  17. Fatty kidney diagnosed by mortem computed tomography

    DEFF Research Database (Denmark)

    Leth, P. M.

    2016-01-01

    Subnuclear vacuolization of the renal tubular epithelium is indicative of diabetic and alcoholic ketoacidosis and has also been proposed as a postmortem marker for hypothermia. We present for the first time a fatal case of ketoacidosis in combination with exposure where a suspicion of these diagn...... of these diagnoses was raised by a marked radiolucency of the kidneys at post-mortem computed tomography (PMCT). © 2015 Elsevier Ltd....

  18. Neural network to diagnose lining condition

    Science.gov (United States)

    Yemelyanov, V. A.; Yemelyanova, N. Y.; Nedelkin, A. A.; Zarudnaya, M. V.

    2018-03-01

    The paper presents data on the problem of diagnosing the lining condition at the iron and steel works. The authors describe the neural network structure and software that are designed and developed to determine the lining burnout zones. The simulation results of the proposed neural networks are presented. The authors note the low learning and classification errors of the proposed neural networks. To realize the proposed neural network, the specialized software has been developed.

  19. Clinical characteristics and outcome of patients diagnosed with psychogenic nonepileptic seizures: a 5-year review.

    LENUS (Irish Health Repository)

    O'Sullivan, S S

    2012-02-03

    OBJECTIVE: The goal of this article was to describe the clinical characteristics and outcomes of patients diagnosed with psychogenic nonepileptic seizures (PNES). METHODS: We conducted a retrospective review of patients diagnosed with PNES in a 5-year period. RESULTS: Fifty patients with PNES were identified, giving an estimated incidence of 0.91\\/100,000 per annum. Thirty-eight were included for review, 15 of whom were male (39%). Eighteen patients had been diagnosed with epilepsy as well as PNES (47%). We demonstrated a gender difference in our patients, with males having higher seizure frequencies, more antiepileptic drug use, and a longer interval before diagnosis of PNES. Females were diagnosed with other conversion disorders more often than males. Impaired social function was observed in PNES, as was resistance to psychological interventions with a subsequent poor response to treatments. CONCLUSIONS: PNES remains a difficult condition to treat, and may affect males in proportions higher than those described in previous studies.

  20. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p... scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning...

  1. Small Families

    Science.gov (United States)

    ... children of larger families. The financial costs of maintaining a household are lower. It is easier for ... separated from you, hindering the development of new relationships with peers. In fact, you may have that ...

  2. Familial hypercholesterolaemia

    African Journals Online (AJOL)

    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised .... Figure 2: Cumulative prevalence of physical signs in adult FH patients at the. GSH Lipid .... microvascular trauma.

  3. Family Life

    Science.gov (United States)

    ... family members to do your laundry, walk the dog, or update others on your progress. You may ... parenting while living with cancer . The importance of communication As demonstrated above, good communication is important in ...

  4. Familial dysautonomia

    Science.gov (United States)

    ... condition. FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused ... also be used for prenatal diagnosis. People of Eastern European Jewish background and families with a history ...

  5. Diagnosing Homo sapiens in the fossil record.

    Science.gov (United States)

    Stringer, Christopher Brian; Buck, Laura Tabitha

    2014-01-01

    Diagnosing Homo sapiens is a critical question in the study of human evolution. Although what constitutes living members of our own species is straightforward, in the fossil record this is still a matter of much debate. The issue is complicated by questions of species diagnoses and ideas about the mode by which a new species is born, by the arguments surrounding the behavioural and cognitive separateness of the species, by the increasing appreciation of variation in the early African H. sapiens record and by new DNA evidence of hybridization with extinct species. This study synthesizes thinking on the fossils, archaeology and underlying evolutionary models of the last several decades with recent DNA results from both H. sapiens and fossil species. It is concluded that, although it may not be possible or even desirable to cleanly partition out a homogenous morphological description of recent H. sapiens in the fossil record, there are key, distinguishing morphological traits in the cranium, dentition and pelvis that can be usefully employed to diagnose the H. sapiens lineage. Increasing advances in retrieving and understanding relevant genetic data provide a complementary and perhaps potentially even more fruitful means of characterizing the differences between H. sapiens and its close relatives.

  6. Subcutaneous emphysema, a different way to diagnose

    Directory of Open Access Journals (Sweden)

    Bruno José da Costa Medeiros

    Full Text Available Summary Introduction: Subcutaneous emphysema (SE is a clinical condition that occurs when air gets into soft tissues under the skin. This can occur in any part of the body depending on the type of pathology. The most common site is under the skin that covers the chest wall or neck. It is characterized by painless swelling of tissues. The classic clinical sign is a crackling sensation upon touch, resembling that of touching a sponge beneath your fingers. Objective: To describe a new way to diagnose subcutaneous emphysema. Method: Our finding was a matter of serendipity while inspecting a patient with subcutaneous emphysema using a stethoscope. Instead only hearing the patient's chest, the stethoscope was gently pressed against the skin with SE and so we were able to detect a different sound. Results: This new way to diagnose subcutaneous emphysema consists in pressing the diaphragm part of stethoscope against the patient's skin where SE is supposed to be. Thus, we are able to hear a sound of small bubbles bursting. Crackle noise has an acoustic emission energy that varies between 750-1,200 Hz, considered high frequency. Conclusion: Although currently the use of imaging methods is widespread worldwide, we would like to strengthen the value of clinical examination. Auscultation is an essential diagnostic method that has become underestimated with the advances of healthcare and medicine as a whole. We therefore propose a different approach to diagnose SE.

  7. [Familial Wolfram syndrome].

    Science.gov (United States)

    Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

    2014-11-01

    Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  8. Family Size, Interaction, Affect and Stress

    Science.gov (United States)

    Nye, F. Ivan; And Others

    1970-01-01

    Synthesizes previous research on relationship of family size to attitudes. Reduces findings to four propositions and submits these propositions to additional tests utilizing secondary data from two large surveys. Substantively, families of three or four children rank lower in all of the analyses than do families with one or two children. Presented…

  9. The Family Contexts of Children's Sibling Relationships.

    Science.gov (United States)

    McHale, Susan M.; Crouter, Ann C.

    1996-01-01

    Unlike much previous research on sibling relationships, which emphasizes the congruence across various types of family experiences, the research described in this article explored between-family differences in patterns of experiences within families. The work is built upon Bronfenbrenner's ecological model and Magnusson's interactional…

  10. Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

    Science.gov (United States)

    Perucca, Piero; Crompton, Douglas E; Bellows, Susannah T; McIntosh, Anne M; Kalincik, Tomas; Newton, Mark R; Vajda, Frank J E; Scheffer, Ingrid E; Kwan, Patrick; O'Brien, Terence J; Tan, K Meng; Berkovic, Samuel F

    2017-08-01

    The cause of mesial temporal lobe epilepsy (MTLE) is often unknown. We ascertained to what extent newly diagnosed nonlesional MTLE actually represents familial MTLE (FMTLE). We identified all consecutive patients presenting to the Austin Health First Seizure Clinic with MTLE and normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis over a 10-year period. Patients' first-degree relatives and pairwise age- and sex-matched controls underwent a comprehensive epilepsy interview. Each interview transcript was reviewed independently by 2 epileptologists, blinded to relative or control status. Reviewers classified each subject as follows: epilepsy, specifying if MTLE; manifestations suspicious for epilepsy; or unaffected. Physiological déjà vu was noted. Forty-four patients were included. At the Clinic, MTLE had been recognized to be familial in 2 patients only. Among 242 subjects interviewed, MTLE was diagnosed in 9 of 121 relatives versus 0 of 121 controls (p = 0.008). All affected relatives had seizures with intense déjà vu and accompanying features; 6 relatives had not been previously diagnosed. Déjà vu experiences that were suspicious, but not diagnostic, of MTLE occurred in 6 additional relatives versus none of the controls (p = 0.04). Physiological déjà vu was common, and did not differ significantly between relatives and controls. After completing the relatives' interviews, FMTLE was diagnosed in 8 of 44 patients (18.2%). FMTLE accounts for almost one-fifth of newly diagnosed nonlesional MTLE, and it is largely unrecognized without direct questioning of relatives. Relatives of patients with MTLE may experience déjà vu phenomena that clinically lie in the "borderland" between epileptic seizures and physiological déjà vu. Ann Neurol 2017;82:166-176. © 2017 American Neurological Association.

  11. Familial aggregation of childhood and adult cancer in the Utah genealogy.

    Science.gov (United States)

    Neale, Rachel E; Stiller, Charles A; Bunch, Kathryn J; Milne, Elizabeth; Mineau, Geraldine P; Murphy, Michael F G

    2013-12-15

    A small proportion of childhood cancer is attributable to known hereditary syndromes, but whether there is any familial component to the remainder remains uncertain. We explored familial aggregation of cancer in a population-based case-control study using genealogical record linkage and designed to overcome limitations of previous studies. Subjects were selected from the Utah Population Database. We compared risk of cancer in adult first-degree relatives of children who were diagnosed with cancer with the risk in relatives of children who had not had a cancer diagnosed. We identified 1,894 childhood cancer cases and 3,788 controls; 7,467 relatives of cases and 14,498 relatives of controls were included in the analysis. Relatives of children with cancer had a higher risk of cancer in adulthood than relatives of children without cancer [odds ratio (OR) 1.31, 95% confidence interval (CI) 1.11-1.56]; this was restricted to mothers and siblings and was not evident in fathers. Familial aggregation appeared stronger among relatives of cases diagnosed before 5 years of age (OR 1.48, 95% CI 1.13-1.95) than among relatives of cases who were older when diagnosed (OR 1.22, 95% CI 0.98-1.51). These findings provide evidence of a generalized excess of cancer in the mothers and siblings of children with cancer. The tendency for risk to be higher in the relatives of children who were younger at cancer diagnosis should be investigated in other large data sets. The excesses of thyroid cancer in parents of children with cancer and of any cancer in relatives of children with leukemia merit further investigation. Copyright © 2013 UICC.

  12. Persistent smoking as a predictor of disability pension due to musculoskeletal diagnoses: a 23 year prospective study of Finnish twins.

    Science.gov (United States)

    Ropponen, Annina; Korhonen, Tellervo; Svedberg, Pia; Koskenvuo, Markku; Silventoinen, Karri; Kaprio, Jaakko

    2013-12-01

    To investigate whether stability or changes in smoking predict disability pension (DP) due to low back diagnoses (LBD) and musculoskeletal diagnoses (MSD) after taking familial confounding into account using a co-twin design. Longitudinal smoking patterns and multiple covariates in a population-based cohort of 17,451 Finnish twins (6959 complete pairs) born before 1958 were surveyed through questionnaires in 1975 and 1981. The outcome data were collected from the national pension registers until the end of 2004. Cox proportional hazards regression models were used for statistical analyses. Disability pension due to low back diagnoses was granted to 408 individuals and disability pension due to musculoskeletal diagnoses to 1177 individuals during the follow-up of 23 years. Being a persistent smoker (current smoker both 1975 and 1981) predicted a significantly increased risk for disability pension (hazard ratio 1.69, 95% confidence interval 1.46, 1.97) compared to those individuals who had never smoked. The association remained when several confounding factors, including familial factors, were taken into account. Persistent smoking predicts early disability pension due to musculoskeletal diagnoses and low back diagnoses independently from numerous confounding factors, including familial effects shared by the co-twins. © 2013.

  13. GIANT CELL AORTITIS DIAGNOSED WITH PET/CT - PARANEOPLASTIC SYNDROME?

    Science.gov (United States)

    Bakula, Marija; Cerovec, Mislav; Mayer, Miroslav; Huić, Dražen; Anić, Branimir

    2016-05-01

    Vasculitides are heterogenic group of autoimmune connective tissue diseases which often present difficulties in early diagnosing. Giant cell arteritis is vasculitis of large and medium arteries. It predominantly presents with symptoms of affection of the external carotid artery branches. Furthermore, the only symptoms can be constitutional. In clinical practice, vasculitides are sometimes considered as paraneoplastic, but no definite association with malignancies has been established and the mechanisms are still debated. The gold standard for diagnosing giant cell arteritis is a positive temporal artery biopsy, but the results can often be false negative. Additionally, more than half of the patients have aorta and its main branches affected. Considering aforementioned, imaging studies are essential in confirming large-vessel vasculitis, amongst which is highly sensitive PET/CT. We present the case of a 70-year-old female patient with constitutional symptoms and elevated sedimentation rate. After extensive diagnostic tests, she was admitted to our Rheumatology unit. Aortitis of the abdominal aorta has been confirmed by PET/CT and after the introduction of glucocorticoids the disease soon went into clinical and laboratory remission. Shortly after aortitis has been diagnosed, lung carcinoma was revealed of which the patient died. At the time of the comprehensive diagnostics, there was no reasonable doubt for underlying malignoma. To the best of our knowledge, there are no recent publications concerning giant cell arteritis and neoplastic processes in the context of up-to-date non-invasive diagnostic methods (i.e. PET/CT). In the light of previous research results, we underline that the sensitivity of PET/CT is not satisfactory when estimating cancer dissemination in non-enlarged lymph nodes and that its value can at times be overestimated.

  14. Survival after early-stage breast cancer of women previously treated for depression

    DEFF Research Database (Denmark)

    Suppli, Nis Frederik Palm; Johansen, Christoffer; Kessing, Lars Vedel

    2017-01-01

    treatment of depression and risk of receiving nonguideline treatment of breast cancer were assessed in multivariable logistic regression analyses. We compared the overall survival, breast cancer-specific survival, and risk of death by suicide of women who were and were not treated for depression before......Purpose The aim of this nationwide, register-based cohort study was to determine whether women treated for depression before primary early-stage breast cancer are at increased risk for receiving treatment that is not in accordance with national guidelines and for poorer survival. Material...... and Methods We identified 45,325 women with early breast cancer diagnosed in Denmark from 1998 to 2011. Of these, 744 women (2%) had had a previous hospital contact (as an inpatient or outpatient) for depression and another 6,068 (13%) had been treated with antidepressants. Associations between previous...

  15. Dutch family physicians' awareness of cognitive impairment among the elderly

    NARCIS (Netherlands)

    van den Dungen, Pim; Moll van Charante, Eric P.; van de Ven, Peter M.; Foppes, Gerbrand; van Campen, Jos P. C. M.; van Marwijk, Harm W. J.; van der Horst, Henriëtte E.; van Hout, Hein P. J.

    2015-01-01

    Dementia is often not formally diagnosed in primary care. To what extent this is due to family physicians' (FPs) watchful waiting, reluctance to diagnose or to their unawareness of the presence of cognitive impairment is unclear. The objective of this study was to assess FPs' awareness of cognitive

  16. Dutch family physicians' awareness of cognitive impairment among the elderly

    NARCIS (Netherlands)

    van den Dungen, P.; van Charante, E.P.M.; van de Ven, P.M.; Foppes, G.; van Campen, J.P.C.M.; van Marwijk, H.W.J.; van der Horst, H.E.; van Hout, H.P.J.

    2015-01-01

    Background: Dementia is often not formally diagnosed in primary care. To what extent this is due to family physicians' (FPs) watchful waiting, reluctance to diagnose or to their unawareness of the presence of cognitive impairment is unclear. The objective of this study was to assess FPs' awareness

  17. Familial hypercholesterolaemia in children and adolescents

    DEFF Research Database (Denmark)

    Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F

    2015-01-01

    . If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle......Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness...... of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis...

  18. Moderated Online Social Therapy: A Model for Reducing Stress in Carers of Young People Diagnosed with Mental Health Disorders.

    Science.gov (United States)

    Gleeson, John; Lederman, Reeva; Koval, Peter; Wadley, Greg; Bendall, Sarah; Cotton, Sue; Herrman, Helen; Crisp, Kingsley; Alvarez-Jimenez, Mario

    2017-01-01

    Family members caring for a young person diagnosed with the onset of mental health problems face heightened stress, depression, and social isolation. Despite evidence for the effectiveness of family based interventions, sustaining access to specialist family interventions is a major challenge. The availability of the Internet provides possibilities to expand and sustain access to evidence-based psychoeducation and personal support for family members. In this paper we describe the therapeutic model and the components of our purpose-built moderated online social therapy (MOST) program for families. We outline the background to its development, beginning with our face-to-face EPISODE II family intervention, which informed our selection of therapeutic content, and the integration of recent developments in positive psychology. Our online interventions for carers integrate online therapy, online social networking, peer and expert support, and online social problem solving which has been designed to reduce stress in carers. The initial version of our application entitled Meridian was shown to be safe, acceptable, and feasible in a feasibility study of carers of youth diagnosed with depression and anxiety. There was a significant reduction in self-reported levels of stress in caregivers and change in stress was significantly correlated with use of the system. We have subsequently launched a cluster RCT for caregivers with a relative diagnosed with first-episode psychosis. Our intervention has the potential to improve access to effective specialist support for families facing the onset of serious mental health problems in their young relative.

  19. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  20. [How do mentally ill parents evaluate their children's quality of life? Associations with the parent's illness and family functioning].

    Science.gov (United States)

    Pollak, Eva; Bullinger, Monika; Jeske, Jana; Wiegand-Grefe, Silke

    2008-01-01

    To assess health-related quality of life (hrQoL) of children with a mentally ill parent, and its associations with the parent's illness (diagnoses, severity of disease, current symptoms) and family functioning, 51 mentally ill parents rated their children's hrQoL using the KINDL-R, a multidimensional hrQoL questionnaire for children. Parents rated their current psychiatric symptoms on the SCL-14 (Symptom Checklist-14) and family functioning on the FB-A ("Familienbögen"). The parents' therapists (psychologists or psychiatrists) provided psychiatric diagnoses as well as global ratings of disease severity (CGI) and patient's family functioning. Compared to the general population, parents rated their children's hrQoL significantly lower concerning the dimensions "Psychological Well-Being" and "Family': HrQoL ratings were moderately correlated with the parent's current depressive symptoms and moderately to highly correlated with family functioning from the parent's perspective. Lower depression severity and higher family functioning were associated with higher hrQoL ratings. Parents with affective disorders rated their children's hrQoL significantly lower than did parents with a diagnosis of substance abuse. Results show the importance of family functioning for parents' view of children's hrQoL and the influence of psychiatric symptoms on ill parents' reports. These findings are in line with previous results concerning potential psychological and behavioural problems in children of mentally ill parents. Family interventions and multi-informant assessment should be used in this high-risk group.

  1. [Familial occurrence of diprosopus in German Holstein calves].

    Science.gov (United States)

    Schulze, Ursula; Kuiper, Heidi; Doeleke, Renate; Ulrich, Reiner; Gerdwilker, Axel; Distl, Ottmar

    2006-01-01

    Diprosopus was diagnosed in six German Holstein calves born on different dairy farms. The degree of facial duplication varied from a partial doubling of the nostrils and upper jaw to complete duplication of the face with formation of two mouths, four eyes and four ears. Further calves descending from the same parents or dams and calves from the same farms were not affected. A joint pedigree was ascertained for the calves with diprosopus. Furthermore, a previously reported case of diprosopus could be traced back to the same ancestors of this pedigree. Consequently, we detected the first time a familial accumulation of diprosopus. Since the ancestors showed no signs of diprosopus and the frequency of diprosopus in German Holsteins is presumably low, an oligogenic inheritance is likely. Recessive genes or a combination of recessive and dominant genes may cause this anomaly.

  2. [Spinocerebellar ataxia type 8: the case of a Spanish family].

    Science.gov (United States)

    Mayo-Cabrero, D; Sánchez-Migallón, M; Cantarero, S; García-Ruiz Espiga, P J; Giménez-Pardo, A; Trujillo-Tiebas, M; Ayuso-García, C

    Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.

  3. Cancer patients' use of family practice and secondary care

    DEFF Research Database (Denmark)

    Sokolowski, Ineta; Kjeldgaard, Anette Hvenegaard; Olesen, Frede

    Aims: We know that in Denmark some 90% of citizens have contact with family practice (FP) during a year and around 40% has contact with secondary care.  This demands efforts to create integrated and shared care. The aim of this study is to document the pattern of contacts with FP among patients...... population b) about 33,000 patients diagnosed with cancer in 2007, and c) about 220,000 patients living with a previous diagnosis of cancer.        Results: Data for the total population is known. The total number of contacts with FP in daytime is about 38.4 million, with out of hours service about 2...

  4. A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

    2014-01-01

    covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...

  5. Intersession Telephone Contact with Individuals Diagnosed with Borderline Personality Disorder: Lessons from Dialectical Behavior Therapy

    Science.gov (United States)

    Ben-Porath, Denise D.

    2004-01-01

    Therapists often struggle with managing intersession contact with clients diagnosed with borderline personality disorder, particularly when dangerous and life-threatening symptoms are communicated (Gunderson, 1996). Difficulties have arisen, in part, because previous phone contacts with this population have failed to recognize the importance of…

  6. Efficacy of escalated imatinib combined with cytarabine in newly diagnosed patients with chronic myeloid leukemia

    NARCIS (Netherlands)

    Deenik, Wendy; Janssen, Jeroen J. W. M.; van der Holt, Bronno; Verhoef, Gregor E. G.; Smit, Willem M.; Kersten, Marie José; Daenen, Simon M. G. J.; Verdonck, Leo F.; Ferrant, Augustin; Schattenberg, Anton V. M. B.; Sonneveld, Pieter; van Marwijk Kooy, Marinus; Wittebol, Shulamit; Willemze, Roelof; Wijermans, Pierre W.; Beverloo, H. Berna; Löwenberg, Bob; Valk, Peter J. M.; Ossenkoppele, Gert J.; Cornelissen, Jan J.

    2010-01-01

    In order to improve the molecular response rate and prevent resistance to treatment, combination therapy with different dosages of imatinib and cytarabine was studied in newly diagnosed patients with chronic myeloid leukemia in the HOVON-51 study. Having reported feasibility previously, we hereby

  7. Hope pictured in drawings by women newly diagnosed with gynecological cancer

    DEFF Research Database (Denmark)

    Hammer, Kristianna; Hall, Elisabeth; Mogensen, Ole

    2013-01-01

    BACKGROUND:: In mysterious ways, hope makes life meaningful even in chaotic and uncontrolled situations. When a woman is newly diagnosed with gynecologic cancer, hope is ineffable and needs exploring. Drawings help express ineffable phenomena. OBJECTIVE:: The aim of the study was to explore how...... women newly diagnosed with gynecologic cancer express the meaning of hope in drawings. METHOD:: Participants were 15 women who on the same day had received the diagnosis of gynecologic cancer. They were between 24 and 87 years (median, 52 years) with a variety of gynecologic cancer diagnoses. Data from...... 15 drawings and postdrawing interviews with the women were analyzed using visual and hermeneutic phenomenology. RESULTS:: Three themes emerged: hope as a spirit to move on, hope as energy through nature, and hope as a communion with families. CONCLUSION:: Hope as pictured in drawings often appears...

  8. Diagnoses and nursing Interventions in hypertensive and diabetic individuals according to Orem’s Theory

    Directory of Open Access Journals (Sweden)

    Priscila Camara de Moura

    2015-02-01

    Full Text Available This study aimed to identify the most prevalent nursing diagnoses in hypertensive and diabetic patients in the Family Health Care Unit, according to Orem’s conceptual model. A descriptive study was conducted from April to November 2013, using a nursing assessment based on Orem’s theory and NANDA-I taxonomy. 16 nursing diagnoses were identified on Universal self-care requisites, nine on Health deviation requisites and two on Developmental self-care requisites, the most prevalent being: “Risk for unstable blood glucose level” (60%, “Ineffective self-care management” (50% and “Disposition for improved knowledge” (36.6%. Teaching (83.3% and support/instruction (100% actions were implemented in nursing care planning. It can be concluded that there is a need to implement nursing activities directed to offering education on Family Health practices.

  9. 49 CFR 173.23 - Previously authorized packaging.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 2 2010-10-01 2010-10-01 false Previously authorized packaging. 173.23 Section... REQUIREMENTS FOR SHIPMENTS AND PACKAGINGS Preparation of Hazardous Materials for Transportation § 173.23 Previously authorized packaging. (a) When the regulations specify a packaging with a specification marking...

  10. 28 CFR 10.5 - Incorporation of papers previously filed.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 1 2010-07-01 2010-07-01 false Incorporation of papers previously filed... CARRYING ON ACTIVITIES WITHIN THE UNITED STATES Registration Statement § 10.5 Incorporation of papers previously filed. Papers and documents already filed with the Attorney General pursuant to the said act and...

  11. 75 FR 76056 - FEDERAL REGISTER CITATION OF PREVIOUS ANNOUNCEMENT:

    Science.gov (United States)

    2010-12-07

    ... SECURITIES AND EXCHANGE COMMISSION Sunshine Act Meeting FEDERAL REGISTER CITATION OF PREVIOUS ANNOUNCEMENT: STATUS: Closed meeting. PLACE: 100 F Street, NE., Washington, DC. DATE AND TIME OF PREVIOUSLY ANNOUNCED MEETING: Thursday, December 9, 2010 at 2 p.m. CHANGE IN THE MEETING: Time change. The closed...

  12. Fundus fluorescence Angiography in diagnosing diabetic retinopathy.

    Science.gov (United States)

    Wang, Shuhui; Zuo, Yuqin; Wang, Ning; Tong, Bin

    2017-01-01

    To investigate the manifestation characteristics of fundus fluorescence angiography (FFA) and its values in diagnosing diabetic retinopathy through comparing direct ophthalmoscopy. Two hundred fifty patients (500 eyes) who were suspected as diabetic retinopathy and admitted to the hospital between February 2015 and December 2016 were selected. They underwent direct ophthalmoscopy and FFA. The manifestation characteristics of FFA in the diagnosis of diabetic retinopathy were summarized. The two examination methods were compared. In the diagnosis with direct ophthalmoscopy, 375 eyes out of 500 eyes were diagnosed as diabetic retinopathy (75%); there were 74 eyes at stage I, 88 eyes at stage II, 92 eyes at stage III, 83 eyes of stage IV, 28 eyes of stage V and 10 eyes of stage VI. In the diagnosis with FFA, 465 eyes out of 500 eyes were diagnosed as diabetic retinopathy (93%); there were 94 eyes at stage I, 110 eyes at stage II, 112 at stage III, 92 eyes at stage IV, 41 eyes at stage V and 16 eyes at stage VI. The detection rate of diabetic retinopathy using FFA was significantly higher than that using direct ophthalmoscopy (Pretinopathy (67.96%), 75 eyes had pre-proliferative lesions (16.13%), 149 eyes had proliferative lesions (32.04%), 135 eyes had diabetic maculopathy (29.03%) and 31 eyes had diabetic optic disc lesions (6.67%). The detection rate of diabetic retinopathy using FFA is higher than that using direct ophthalmoscopy. FFA could accurately determine clinical stage. Therefore, it is an important approach in treatment efficacy evaluation and treatment guidance, suggesting a significant application value.

  13. Best waveform score for diagnosing keratoconus

    Directory of Open Access Journals (Sweden)

    Allan Luz

    2013-12-01

    Full Text Available PURPOSE: To test whether corneal hysteresis (CH and corneal resistance factor (CRF can discriminate between keratoconus and normal eyes and to evaluate whether the averages of two consecutive measurements perform differently from the one with the best waveform score (WS for diagnosing keratoconus. METHODS: ORA measurements for one eye per individual were selected randomly from 53 normal patients and from 27 patients with keratoconus. Two groups were considered the average (CH-Avg, CRF-Avg and best waveform score (CH-WS, CRF-WS groups. The Mann-Whitney U-test was used to evaluate whether the variables had similar distributions in the Normal and Keratoconus groups. Receiver operating characteristics (ROC curves were calculated for each parameter to assess the efficacy for diagnosing keratoconus and the same obtained for each variable were compared pairwise using the Hanley-McNeil test. RESULTS: The CH-Avg, CRF-Avg, CH-WS and CRF-WS differed significantly between the normal and keratoconus groups (p<0.001. The areas under the ROC curve (AUROC for CH-Avg, CRF-Avg, CH-WS, and CRF-WS were 0.824, 0.873, 0.891, and 0.931, respectively. CH-WS and CRF-WS had significantly better AUROCs than CH-Avg and CRF-Avg, respectively (p=0.001 and 0.002. CONCLUSION: The analysis of the biomechanical properties of the cornea through the ORA method has proved to be an important aid in the diagnosis of keratoconus, regardless of the method used. The best waveform score (WS measurements were superior to the average of consecutive ORA measurements for diagnosing keratoconus.

  14. No discrimination against previous mates in a sexually cannibalistic spider

    Science.gov (United States)

    Fromhage, Lutz; Schneider, Jutta M.

    2005-09-01

    In several animal species, females discriminate against previous mates in subsequent mating decisions, increasing the potential for multiple paternity. In spiders, female choice may take the form of selective sexual cannibalism, which has been shown to bias paternity in favor of particular males. If cannibalistic attacks function to restrict a male's paternity, females may have little interest to remate with males having survived such an attack. We therefore studied the possibility of female discrimination against previous mates in sexually cannibalistic Argiope bruennichi, where females almost always attack their mate at the onset of copulation. We compared mating latency and copulation duration of males having experienced a previous copulation either with the same or with a different female, but found no evidence for discrimination against previous mates. However, males copulated significantly shorter when inserting into a used, compared to a previously unused, genital pore of the female.

  15. Implant breast reconstruction after salvage mastectomy in previously irradiated patients.

    Science.gov (United States)

    Persichetti, Paolo; Cagli, Barbara; Simone, Pierfranco; Cogliandro, Annalisa; Fortunato, Lucio; Altomare, Vittorio; Trodella, Lucio

    2009-04-01

    The most common surgical approach in case of local tumor recurrence after quadrantectomy and radiotherapy is salvage mastectomy. Breast reconstruction is the subsequent phase of the treatment and the plastic surgeon has to operate on previously irradiated and manipulated tissues. The medical literature highlights that breast reconstruction with tissue expanders is not a pursuable option, considering previous radiotherapy a contraindication. The purpose of this retrospective study is to evaluate the influence of previous radiotherapy on 2-stage breast reconstruction (tissue expander/implant). Only patients with analogous timing of radiation therapy and the same demolitive and reconstructive procedures were recruited. The results of this study prove that, after salvage mastectomy in previously irradiated patients, implant reconstruction is still possible. Further comparative studies are, of course, advisable to draw any conclusion on the possibility to perform implant reconstruction in previously irradiated patients.

  16. Aluminium in brain tissue in familial Alzheimer's disease.

    Science.gov (United States)

    Mirza, Ambreen; King, Andrew; Troakes, Claire; Exley, Christopher

    2017-03-01

    The genetic predispositions which describe a diagnosis of familial Alzheimer's disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer's disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to aluminium and aluminium has been shown to be present in brain tissue in sporadic Alzheimer's disease. We have made the first ever measurements of aluminium in brain tissue from 12 donors diagnosed with familial Alzheimer's disease. The concentrations of aluminium were extremely high, for example, there were values in excess of 10μg/g tissue dry wt. in 5 of the 12 individuals. Overall, the concentrations were higher than all previous measurements of brain aluminium except cases of known aluminium-induced encephalopathy. We have supported our quantitative analyses using a novel method of aluminium-selective fluorescence microscopy to visualise aluminium in all lobes of every brain investigated. The unique quantitative data and the stunning images of aluminium in familial Alzheimer's disease brain tissue raise the spectre of aluminium's role in this devastating disease. Copyright © 2016 The Authors. Published by Elsevier GmbH.. All rights reserved.

  17. Diagnosing ADHD in Danish primary school children

    DEFF Research Database (Denmark)

    Tegtmejer, Thyge; Hjörne, Eva; Säljö, Roger

    2018-01-01

    This study of institutional categorization reports an investigation of the practices, procedures and assumptions of psychiatric staff members when diagnosing ADHD. The main data upon which the study is based consist of transcribed audio recordings of meetings in the psychiatric clinic. Here...... children referred from primary schools on the suspicion of ADHD are attended to. The tools and procedures for gathering information are shown to produce decontextualized and individualizing representations of children’s conduct. The evaluation against a number of norms is found to be central. Finally...

  18. Neuroimaging differential diagnoses to abusive head trauma

    International Nuclear Information System (INIS)

    Girard, Nadine; Brunel, Herve; Dory-Lautrec, Philippe; Chabrol, Brigitte

    2016-01-01

    Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. (orig.)

  19. Postnatal monitoring of prenatal diagnosed hydro nephrosis

    International Nuclear Information System (INIS)

    Bueva, A.; Stefanov, S.; Palashev, Y.

    2011-01-01

    Ultrasound has revolutionized pediatric nephrology in the last decades and has a major impact on management and treatment of several children's kidneys diseases. Hydronephrosis is the most common anomaly in childhood. Progress in fetal imaging in the last years has a important impact in diagnosing congenital hydronephrosis. The current study try to establish authors opinion on problem over coming in the every day practice in pediatric nephrologist - is surgery mandatory in high grade pediatric hydronephrosis. A discussion is undergoing in the literature, following communications that high grade hydronephrosis tend spontaneously to regress in more that 65% according to Koff (2000, 2008)

  20. Neuroimaging differential diagnoses to abusive head trauma

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Aix Marseille University, UMR CNRS 7339, Marseille (France); Brunel, Herve; Dory-Lautrec, Philippe [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Chabrol, Brigitte [AP-HM Timone, Department of Pediatric Neurology, Marseille (France)

    2016-05-15

    Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. (orig.)

  1. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  2. Bordetella pertussis diagnosed by polymerase chain reaction

    DEFF Research Database (Denmark)

    Birkebaek, N H; Heron, I; Skjødt, K

    1994-01-01

    The object of this work was to test the polymerase chain reaction (PCR) for demonstration of Bordetella pertussis (BP) in nasopharyngeal secretions. The method was applied to patients with recently diagnosed pertussis, as verified by BP culture. In order to test the sensitivity and specificity...... in 25 patients in whose nasopharyngeal secretions BP had been demonstrated after 4-7 days of culture. The detection limit of PCR in aqueous solution was 1-2 BP bacteria per reaction tube. PCR was 100% specific for BP, showing no response with other Bordetella species or other bacteria known to colonize...

  3. Familial macrocephaly

    International Nuclear Information System (INIS)

    Tatsuno, Masaru; Hayashi, Michiko; Iwamoto, Hiroko

    1984-01-01

    We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Of the 16 children with familial macrocephaly, 13 were boys. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Three of 5 brothers and 5 of 8 sisters also had large heads. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. Some of the children were hypotonic as infants, but their development was generally normal. CT scans usually clearly distinguished these children from those with hydorocephalus. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. (author)

  4. Familial Granuloma Annulare

    Directory of Open Access Journals (Sweden)

    Zennure Takci

    2015-09-01

    Full Text Available Granuloma annulare is a benign, asymptomatic, relatively common, often self-limited chronic granulomatos disorder of the skin that can affect both children and adults. The primary skin lesion usually is grouped papules in an enlarging annular shape, with color ranging from flesh-colored to erythematous. The two most common types of granuloma annulare are localized, which typically is found on the lateral or dorsal surfaces of the hands and feet; and disseminated, which is widespread. Rarely, familial cases of granuloma annulare has been reported. Herein, we report two sisters with annular papules and plaques diagnosed as granuloma annulare with the clinical and pathological findings. [J Contemp Med 2015; 5(3.000: 189-191

  5. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2011-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

  6. Disability and Comorbidity: Diagnoses and Symptoms Associated with Disability in a Clinical Population with Panic Disorder

    Directory of Open Access Journals (Sweden)

    Caroline A. Bonham

    2014-01-01

    Full Text Available Background. Anxiety disorders are associated with considerable disability in the domains of (1 work, (2 social, and (3 family and home interactions. Psychiatric comorbidity is also known to be associated with disability. Methods. Data from the Cross-National Collaborative Panic Study was used to identify rates of comorbid diagnoses, anxiety and depression symptom ratings, and Sheehan disability scale ratings from a clinical sample of 1165 adults with panic disorder. Results. Comorbid diagnoses of agoraphobia, major depression, and social phobia were associated with disability across the three domains of work, social, and family and home interactions. The symptom of agoraphobic avoidance makes the largest contribution to disability but there is no single symptom cluster that entirely predicts impairment and disability. Limitations. The findings about the relative contributions that comorbid diagnoses make to disability only apply to a population with panic disorder. Conclusions. Although panic disorder is not generally considered to be among the serious and persistent mental illnesses, when it is comorbid with other diagnoses, it is associated with considerable impairment. In particular, the presence of agoraphobic avoidance should alert the clinician to the likelihood of important functional impairment. When measuring the functional impact of comorbid anxiety disorders, both the categorical and the dimensional approaches to diagnosis make valuable contributions.

  7. Parent Perceptions of Family Social Supports in Families With Children With Epilepsy.

    Science.gov (United States)

    Decker, Kim A; Miller, Wendy R; Buelow, Janice M

    2016-12-01

    When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy. Utilizing the Family Systems Nursing theory as a framework, this correlation study examined the relationships among social and community support, family needs, family empowerment, and family quality of life in 29 primary caregivers of a child with epilepsy. These families felt highly supported; they had low needs and high perceptions of empowerment. There was a negative association between social supports and the total family needs survey scale and the subscales of financial support, help regarding explaining to others, and professional support. There was no association between family empowerment or quality of life with parental perceptions of social support. In general, as parental perceptions of family needs increased, perceptions of familial social supports decreased. Further research is recommended to investigate varying socioeconomic status effects in families with children with pediatric epilepsy.

  8. Super families

    International Nuclear Information System (INIS)

    Amato, N.; Maldonado, R.H.C.

    1989-01-01

    The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)

  9. Comparison of radiological measures for diagnosing flatfoot

    International Nuclear Information System (INIS)

    Lo, Huan-Chu; Chu, Wencheng; Wu, Weikai; Hsieh, Hsin; Chou, Chiehping; Sun, Shaoen; Chou, Pinya; Liao, Chenhui; Guan, Xiaoyun; Li, Shuchee

    2012-01-01

    Background. In the Taiwanese military, flatfoot is indicated by a calcaneal-fifth metatarsal angle (arch angle) =165 deg . However, the arch angle is not always easily defined. Purpose. To assess correlations between the arch angle and other radiographic measures and thus identify an alternative radiographic measure for diagnosing flatfoot. Material and Methods Eighty-seven male Taiwanese military recruits were studied (median age 22 years, interquartile range 20-23 years). Lateral, weight-bearing radiographs were taken. Five radiographic measurements, including the calcaneal-fifth metatarsal angle (arch angle), medial arch angle (MAA), calcaneal pitch angle (CP), talus angle (TA), and talar-first metatarsal angle (TFM) were made. Correlations between the arch angle and all other measures were determined. A cut-off value for predicting flatfoot (arch angle ≥165 deg ) was determined for each measure using the Youden index and receiver-operating characteristic (ROC) curves were generated for each measure to assess diagnostic accuracy. Results. All measures were significantly correlated with arch angle (P 9.5 deg ) had the highest specificity (90.3% vs. 88.75 for CP <12.3 deg ). Conclusion. CP is inversely correlated with arch angle in Taiwanese male military recruits. CP < 12.3 deg is a significant predictor of flatfoot. Assessment of CP may be used as an alternative means of diagnosing flatfoot when the arch angle is not easily defined

  10. Diagnosing method for nuclear power plant

    International Nuclear Information System (INIS)

    Sonoda, Yukio.

    1991-01-01

    When an abnormality occurs in a nuclear power plant, the abnormality is diagnosed, at present, graphic waveforms obtained by applying signal processing such as high speed Fourier transformation, etc. to fluctuation ingredients (noises) of process signals such as neutron fluxes, and plotting a power spectral density relative to a frequency. However, expert technical knowledges are required for interpreting the waveforms and it is difficult for field operators and persons for maintenance to judge them. Then, in the present invention, patterns of the power spectral density are inputted for pattern recognition by using a neural net so that any of patterns experienced in the past can be identified. If an unknown pattern appears, it is automatically studied for identification in subsequent cases. Then, the known abnormality of the plant can be monitored and causes thereof can be identified in an early stage, as well as it is possible to diagnose unknown abnormalities in subsequent situation. This method is effective for monitoring and maintaining the integrity, and can avoid unnecessary scram to improve plant operation factor. (N.H.)

  11. Diagnosing ignition with DT reaction history

    International Nuclear Information System (INIS)

    Wilson, D. C.; Bradley, P. A.; Herrmann, H. W.; Cerjan, C. J.; Salmonson, J. D.; Spears, B. K.; Hatchet, S. P. II; Glebov, V. Yu.

    2008-01-01

    A full range DT reaction history of an ignition capsule, from 10 9 to 10 20 neutrons/ns, offers the opportunity to diagnose fuel conditions hundreds of picoseconds before and during burn. The burn history begins with a sharp rise when the first shock reaches the center of the capsule. The level of this jump reflects the combined shock strength and the adiabat of DT fuel. Changes to the four laser pulses driving the capsule implosion which are large enough to degrade the yield make measurable changes to the reaction history. Low mode asymmetries grow during convergence but change the reaction history during the final ∼100 ps. High mode asymmetry or turbulence mixing affects only the reaction history within ∼50 ps of peak burn rate. A capsule with a tritium fuel layer containing a small amount of deuterium (∼1%) creates a reaction history similar to the ignition capsule, but without the final ignition burn. A combination of gas Cerenkov detectors and the neutron temporal diagnostic could be capable of diagnosing the full history of ignition and tritium rich capsules.

  12. Diagnosing breast cancer by using Raman spectroscopy

    Science.gov (United States)

    Haka, Abigail S.; Shafer-Peltier, Karen E.; Fitzmaurice, Maryann; Crowe, Joseph; Dasari, Ramachandra R.; Feld, Michael S.

    2005-08-01

    We employ Raman spectroscopy to diagnose benign and malignant lesions in human breast tissue based on chemical composition. In this study, 130 Raman spectra are acquired from ex vivo samples of human breast tissue (normal, fibrocystic change, fibroadenoma, and infiltrating carcinoma) from 58 patients. Data are fit by using a linear combination model in which nine basis spectra represent the morphologic and chemical features of breast tissue. The resulting fit coefficients provide insight into the chemical/morphological makeup of the tissue and are used to develop diagnostic algorithms. The fit coefficients for fat and collagen are the key parameters in the resulting diagnostic algorithm, which classifies samples according to their specific pathological diagnoses, attaining 94% sensitivity and 96% specificity for distinguishing cancerous tissues from normal and benign tissues. The excellent results demonstrate that Raman spectroscopy has the potential to be applied in vivo to accurately classify breast lesions, thereby reducing the number of excisional breast biopsies that are performed. Author contributions: M.F., J.C., R.R.D., and M.S.F. designed research; A.S.H. and K.E.S.-P. performed research; A.S.H. and M.F. analyzed data; and A.S.H. wrote the paper.This paper was submitted directly (Track II) to the PNAS office.Abbreviations: DEH, ductal epithelial hyperplasia; ROC, receiver operating characteristic; N/C, nuclear-to-cytoplasm.

  13. Vehicle Fault Diagnose Based on Smart Sensor

    Science.gov (United States)

    Zhining, Li; Peng, Wang; Jianmin, Mei; Jianwei, Li; Fei, Teng

    In the vehicle's traditional fault diagnose system, we usually use a computer system with a A/D card and with many sensors connected to it. The disadvantage of this system is that these sensor can hardly be shared with control system and other systems, there are too many connect lines and the electro magnetic compatibility(EMC) will be affected. In this paper, smart speed sensor, smart acoustic press sensor, smart oil press sensor, smart acceleration sensor and smart order tracking sensor were designed to solve this problem. With the CAN BUS these smart sensors, fault diagnose computer and other computer could be connected together to establish a network system which can monitor and control the vehicle's diesel and other system without any duplicate sensor. The hard and soft ware of the smart sensor system was introduced, the oil press, vibration and acoustic signal are resampled by constant angle increment to eliminate the influence of the rotate speed. After the resample, the signal in every working cycle could be averaged in angle domain and do other analysis like order spectrum.

  14. Beyond the DSM: trends in psychiatry diagnoses

    Directory of Open Access Journals (Sweden)

    Andre Russowsky Brunoni

    Full Text Available Abstract Background: Although widely used in clinical practice and research, Diagnostic and Statistical Manual of Mental Disorders (DSM diagnoses have low validity: patients with different mental disorders can share similar symptoms, while those with the same diagnosis might have different symptoms. In fact, the DSM diagnostic system has been considered one of the main obstacles for further development of psychiatric research. Recently, it has been proposed that psychiatry nosology should be reframed according to a biologically-based etiology. Objectives: To review present and past endeavors of establishing an etiology-based nosology. Methods: Comprehensive review of articles on the topic. Results: From Hippocrates onwards, multiple attempts have been undertaken aiming to move etiology and nosology closer. The most recent efforts are represented by Developmental Psychopathology (DP and the Research Domain Criteria (RDoC, which presents an operational matrix recommended to be used in clinical research instead of the DSM diagnoses. Discussion: The DSM-based nosology is faulty. RDoC and DP might be interesting alternatives for an etiology-based nosology. However, while DP has already brought promising results, RDoC is a novel proposal, whose advantages and disadvantages should gradually be identified in the upcoming years.

  15. Risk perception and unrecognized type 2 diabetes in women with previous gestational diabetes mellitus.

    Science.gov (United States)

    Malcolm, Janine; Lawson, Margaret L; Gaboury, Isabelle; Keely, Erin

    2009-09-01

    Women with a history of gestational diabetes mellitus (GDM) have a high chance of developing type 2 diabetes mellitus (T2DM) following the index pregnancy, however, little is known of women's perception of this risk. The objectives were to (1) determine women's perception of risk of future development of T2DM following a GDM pregnancy and (2) describe the prevalence of undetected dysglycaemia in a Canadian population. The study was designed as a 9-11 year follow-up study of women previously enrolled in a randomized controlled trial of tight versus minimal intervention for GDM. Women's perception of future risk of diabetes was determined by questionnaire. Fasting lipid profile, height and weight were performed on all participants. Oral glucose tolerance tests were performed on all women without prior history of diabetes mellitus type 2 (DM2). The study was conducted at Ottawa Hospital General Campus and Children's Hospital of Eastern Ontario, in Ottawa, Canada. Eighty-nine of 299 (30%) of the original cohort were recruited. Eighty-eight women completed the questionnaire and 77 women without known diabetes underwent two hour glucose tolerance testing. Twenty-three (30%) felt their risk was no different than other women or did not know, 27 (35%) felt risk was increased a little and 27 (35%) felt risk was increased a lot. Only 52% (40/77) had normal glucose tolerance. Of all, 25/88 (28%) patients had diabetes (11 previously diagnosed and 14 diagnosed within the study). Of those newly diagnosed with DM2, four (29%) were diagnosed by fasting glucose, six (42%) by two hour glucose tolerance test (GTT) alone and four (29%) by both. Twenty-four of the women (27%) had impaired glucose tolerance (IGT). Of those with IGT, 12 (57%) had a fasting food glucose DM2, and all had a waist circumference >88 cm. In conclusion the perception of being at high risk for T2DM did not prevent women from having undetected T2DM. Many factors are likely to contribute to this, including the

  16. Influence of PET/CT 68Ga somatostatin receptor imaging on proceeding with patients, who were previously diagnosed with 99mTc-EDDA/HYNIC-TOC SPECT.

    Science.gov (United States)

    Madrzak, Dorota; Mikołajczak, Renata; Kamiński, Grzegorz

    2016-01-01

    The aim of this study was the assessment of utility of somatostatin receptor scintigraphy (SRS) by SPECT imaging using 99mTc-EDDA/HYNIC-Tyr3-octreotide (99mTc-EDDA/HYNIC-TOC) in patients with neuroendocrine neoplasm (NEN) or suspected NEN, referred to Nuclear Medicine Dept. of Voivodship Specialty Center in Rzeszow. The selected group of patients was referred also to 68Ga PET/CT. The posed question was the ratio of patients for whom PET/CT with 68Ga would change their management. The distribution of somatostatin receptors was imaged using 99mTc-EDDA/HYNIC-TOC in 61 planar and SPECT studies between 13/05/2010 and 04/02/2013 in Nuclear Medicine Dept. of Voivodship Specialty Center in Rzeszow. The patient age was within a range of 17-80, with the average age of 57.6. The average age of women (65% of patients over-all) was 55.6 and the average age of men (35% of patients overall) was 61.4. In 46 participants (75% of the study group), that underwent SRS, NEN was documented using pathology tests. Selected patients were referred to PET/CT with 68Ga labeled somatostatin analogs, DOTATATE or DOTANOC. This study group consisted of 14 female and 10 male participants with age range of 35-77 and average age of 55.5 years. Patients were classified into 3 groups, as follows: detection - referral due to clinical symptoms and/or biochemical markers (CgA-Chromogranin A, IAA-indoleacetic acid) with the aim of primary diagnosis, staging - referral with the aim of assessment of tumor spread, and follow-up - assessment of the therapy. Out of 61 patients, 24 underwent both 99mTc-EDDA/HYNIC-Tyr3-octreotide SPECT and 68Ga PET/CT. The result of PET/CT was used as a basis for further evaluation. Therefore, the patients were divided into groups; true positive TP (confirmed presence of tissue somatostatin receptors with 68Ga PET/CT) and TN (68Ga PET/CT did not detect any changes and the results were comparable and had the same influence on treatment protocol). In case of SPECT, the results were assigned as follows: TP, TN (in cases where the results were confirmed by 68Ga PET/CT), FP (patient's scintigraphy demonstrated focal change by SPECT but not PET/CT) and FN (99mTc-EDDA/HYNIC-Tyr3-octreotide SPECT failed to demonstrate any abnormalities; however, the treatment protocol was changed after PET/CT). The accuracy of SPECT diagnosis was found to be as high as 91.6%. Only in 8.4% of patients the additional PET/CT with 68Ga-labeled somatostatin analog changed the treatment protocol.

  17. Differentiated vulvar intraepithelial neoplasia is often found in lesions, previously diagnosed as lichen sclerosus, which have progressed to vulvar squamous cell carcinoma

    NARCIS (Netherlands)

    van de Nieuwenhof, Hedwig P.; Bulten, Johan; Hollema, Harrie; Dommerholt, Rianne G.; Massuger, Leon F. A. G.; van der Zee, Ate G. J.; de Hullu, Joanne A.; van Kempen, Leon C. L. T.

    Lichen sclerosus is considered to be the precursor lesion of vulvar squamous cell carcinoma, of which only 2-5% progress to squamous cell carcinoma. Differentiated vulvar intraepithelial neoplasia (VIN) has been proposed to be the direct precursor lesion, but this is a recently recognized, and a

  18. Control of risk factors for cardiovascular disease among adults with previously diagnosed type 2 diabetes mellitus: a descriptive study from a middle eastern arab population.

    Science.gov (United States)

    Al-Lawati, Jawad A; N Barakat, Mohammed; Al-Zakwani, Ibrahim; Elsayed, Medhat K; Al-Maskari, Masoud; M Al-Lawati, Nawar; Mohammed, Ali Jaffer

    2012-01-01

    Despite the high burden of type 2 diabetes mellitus (T2DM) in Oman, there are scarce data from a nationally representative sample on the level of glycaemia and other cardiovascular (CVD) risk factor control. To estimate the proportion of patients with T2DM at goal for glycaemia and CVD risk factors using the National Diabetes Guidelines (NDG) and the American Diabetes Association (ADA) clinical care guidelines; and to assess the quality of selected services provided to patients with T2DM. A sample of 2,551 patients (47% men) aged ≥20 years with T2DM treated at primary health care centers was selected. Patient characteristics, medical history and treatment were collected from case notes, Diabetes Registers and computer frameworks including the use of the last 3 laboratory investigations results and blood pressure (BP) readings recorded in 2007. The overall mean age of the cohort was 54±13 years with an average median duration of diabetes of 4 (range 2 to 6) years. Over 80% of patients were overweight or obese (body mass index (BMI) of ≥25 Kg/m(2)). Sixty-nine percent were on oral anti-diabetic medication, 52% on anti-hypertensives and 40% on lipid lowering drugs. Thirty percent of patients were at goal for glycosylated haemoglobin level (1 mmol/l for men, >1.3 mmol/l for women), and 61% for triglycerides (<1.7 mmol/l). Over 37% had micro-albuminuria and 5% had diabetic nephropathy. Control of hyperglycaemia and other CVD risk factor appears to be suboptimal in Omani patients with T2DM and need to be addressed in the triad of patient, physician and health system.

  19. Family Violence.

    Science.gov (United States)

    Emery, Robert E.

    1989-01-01

    Researchers and policymakers have begun to recognize the extent and severity of family violence, particularly its effects on children. But there is much disagreement about the definition of violence, its development, the consequences for victims, and the most effective avenues for intervention. Advances recommendations for further research.…

  20. Family arizing

    NARCIS (Netherlands)

    Croes, M.J.G.; Feijs, L.M.G.; Chen, L.; Djajadingrat, T.; Feijs, L.M.G.; Hu, J.; Kufin, S.H.M.; Rampino, L.; Rodriguez, E.; Steffen, D.

    2015-01-01

    In this demo we show the two main components of the Family Arizing system which allows parents to stay in contact with their child and, in cases of distress, provide the child with a remote comforting hug. The two components to be shown are the active necklace and the active snuggle.

  1. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  2. FAMILY ASILIDAE.

    Science.gov (United States)

    Wolff, Marta; Lamas, Carlos José Einicker

    2016-06-14

    Asilidae is one of the largest Diptera families with more than 7,000 recognized species worldwide. All their species are predators on arthropods, mainly insects. This catalogue presents 71 species distributed in 26 genera, ten tribes or generic groups and four subfamilies. For each species we present the available geographical information and relevant references.

  3. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  4. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

    cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). RESULTS: Seven FH patients were asymptomatic and six had...... in asymptomatic FH patients may play a role in their apparent protection from premature CHD....

  5. Familial occurrence of inflammatory bowel disease

    DEFF Research Database (Denmark)

    Orholm, M; Munkholm, P; Langholz, E

    1991-01-01

    BACKGROUND AND METHODS: We assessed the familial occurrence of inflammatory bowel disease in Copenhagen County, where there has been a long-term interest in the epidemiology of such disorders. In 1987 we interviewed 662 patients in whom inflammatory bowel disease had been diagnosed before 1979, a...

  6. [Familial Mediterranean fever: not to be missed

    NARCIS (Netherlands)

    Frenkel, J.; Bemelman, F.J.; Potter van Loon, B.J.; Simon, A.

    2013-01-01

    Familial Mediterranean fever (FMF) is common among Turkish and Moroccan migrants. We describe three patients with FMF. A 3-year-old girl with recurrent fever and abdominal pain who was diagnosed early with FMF and treated effectively with colchicine. An adolescent girl who required interleukin

  7. Personality disorders in previously detained adolescent females: a prospective study

    NARCIS (Netherlands)

    Krabbendam, A.; Colins, O.F.; Doreleijers, T.A.H.; van der Molen, E.; Beekman, A.T.F.; Vermeiren, R.R.J.M.

    2015-01-01

    This longitudinal study investigated the predictive value of trauma and mental health problems for the development of antisocial personality disorder (ASPD) and borderline personality disorder (BPD) in previously detained women. The participants were 229 detained adolescent females who were assessed

  8. Payload specialist Reinhard Furrer show evidence of previous blood sampling

    Science.gov (United States)

    1985-01-01

    Payload specialist Reinhard Furrer shows evidence of previous blood sampling while Wubbo J. Ockels, Dutch payload specialist (only partially visible), extends his right arm after a sample has been taken. Both men show bruises on their arms.

  9. Previous utilization of service does not improve timely booking in ...

    African Journals Online (AJOL)

    Previous utilization of service does not improve timely booking in antenatal care: Cross sectional study ... Journal Home > Vol 24, No 3 (2010) > ... Results: Past experience on antenatal care service utilization did not come out as a predictor for ...

  10. Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

    Directory of Open Access Journals (Sweden)

    Maria Victoria Fernández

    2017-11-01

    Full Text Available Alzheimer disease (AD, Frontotemporal lobar degeneration (FTD, Amyotrophic lateral sclerosis (ALS and Parkinson disease (PD have a certain degree of clinical, pathological and molecular overlap. Previous studies indicate that causative mutations in AD and FTD/ALS genes can be found in clinical familial AD. We examined the presence of causative and low frequency coding variants in the AD, FTD, ALS and PD Mendelian genes, in over 450 families with clinical history of AD and over 11,710 sporadic cases and cognitive normal participants from North America. Known pathogenic mutations were found in 1.05% of the sporadic cases, in 0.69% of the cognitively normal participants and in 4.22% of the families. A trend towards enrichment, albeit non-significant, was observed for most AD, FTD and PD genes. Only PSEN1 and PINK1 showed consistent association with AD cases when we used ExAC as the control population. These results suggest that current study designs may contain heterogeneity and contamination of the control population, and that current statistical methods for the discovery of novel genes with real pathogenic variants in complex late onset diseases may be inadequate or underpowered to identify genes carrying pathogenic mutations.

  11. Emergency diagnosis of cancer and previous general practice consultations: insights from linked patient survey data.

    Science.gov (United States)

    Abel, Gary A; Mendonca, Silvia C; McPhail, Sean; Zhou, Yin; Elliss-Brookes, Lucy; Lyratzopoulos, Georgios

    2017-06-01

    Emergency diagnosis of cancer is common and aetiologically complex. The proportion of emergency presenters who have consulted previously with relevant symptoms is uncertain. To examine how many patients with cancer, who were diagnosed as emergencies, have had previous primary care consultations with relevant symptoms; and among those, to examine how many had multiple consultations. Secondary analysis of patient survey data from the 2010 English Cancer Patient Experience Survey (CPES), previously linked to population-based data on diagnostic route. For emergency presenters with 18 different cancers, associations were examined for two outcomes (prior GP consultation status; and 'three or more consultations' among prior consultees) using logistic regression. Among 4647 emergency presenters, 1349 (29%) reported no prior consultations, being more common in males (32% versus 25% in females, P <0.001), older (44% in ≥85 versus 30% in 65-74-year-olds, P <0.001), and the most deprived (35% versus 25% least deprived, P = 0.001) patients; and highest/lowest for patients with brain cancer (46%) and mesothelioma (13%), respectively ( P <0.001 for overall variation by cancer site). Among 3298 emergency presenters with prior consultations, 1356 (41%) had three or more consultations, which were more likely in females ( P <0.001), younger ( P <0.001), and non-white patients ( P = 0.017) and those with multiple myeloma, and least likely for patients with leukaemia ( P <0.001). Contrary to suggestions that emergency presentations represent missed diagnoses, about one-third of emergency presenters (particularly those in older and more deprived groups) have no prior GP consultations. Furthermore, only about one-third report multiple (three or more) consultations, which are more likely in 'harder-to-suspect' groups. © British Journal of General Practice 2017.

  12. Policy implications for familial searching

    OpenAIRE

    Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H

    2011-01-01

    Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforce...

  13. Parental history of psychiatric diagnoses and unipolar depression: a Danish National Register-based cohort study.

    Science.gov (United States)

    Musliner, K L; Trabjerg, B B; Waltoft, B L; Laursen, T M; Mortensen, P B; Zandi, P P; Munk-Olsen, T

    2015-10-01

    Depression is known to run in families, but the effects of parental history of other psychiatric diagnoses on depression rates are less well studied. Few studies have examined the impact of parental psychopathology on depression rates in older age groups. We established a population-based cohort including all individuals born in Denmark after 1954 and alive on their 10th birthday (N = 29 76 264). Exposure variables were maternal and paternal history of schizophrenia, bipolar disorder, depression, anxiety or 'other' psychiatric diagnoses. Incidence rate ratios (IRRs) were estimated using Poisson regressions. Parental history of any psychiatric diagnosis increased incidence rates of outpatient (maternal: IRR 1.88, p history. IRRs for parental history of non-affective disorders remained relatively stable across age groups, while IRRs for parental affective disorders (unipolar or bipolar) decreased with age from 2.29-3.96 in the youngest age group to 1.53-1.90 in the oldest group. IRR estimates for all parental diagnoses were similar among individuals aged ⩾41 years (IRR range 1.51-1.90). Parental history of any psychiatric diagnosis is associated with increased incidence rates of unipolar depression. In younger age groups, parental history of affective diagnoses is more strongly associated with rates of unipolar depression than non-affective diagnoses; however, this distinction disappears after age 40, suggesting that parental psychopathology in general, rather than any one disorder, confers risk for depression in middle life.

  14. A previous hamstring injury affects kicking mechanics in soccer players.

    Science.gov (United States)

    Navandar, Archit; Veiga, Santiago; Torres, Gonzalo; Chorro, David; Navarro, Enrique

    2018-01-10

    Although the kicking skill is influenced by limb dominance and sex, how a previous hamstring injury affects kicking has not been studied in detail. Thus, the objective of this study was to evaluate the effect of sex and limb dominance on kicking in limbs with and without a previous hamstring injury. 45 professional players (males: n=19, previously injured players=4, age=21.16 ± 2.00 years; females: n=19, previously injured players=10, age=22.15 ± 4.50 years) performed 5 kicks each with their preferred and non-preferred limb at a target 7m away, which were recorded with a three-dimensional motion capture system. Kinematic and kinetic variables were extracted for the backswing, leg cocking, leg acceleration and follow through phases. A shorter backswing (20.20 ± 3.49% vs 25.64 ± 4.57%), and differences in knee flexion angle (58 ± 10o vs 72 ± 14o) and hip flexion velocity (8 ± 0rad/s vs 10 ± 2rad/s) were observed in previously injured, non-preferred limb kicks for females. A lower peak hip linear velocity (3.50 ± 0.84m/s vs 4.10 ± 0.45m/s) was observed in previously injured, preferred limb kicks of females. These differences occurred in the backswing and leg-cocking phases where the hamstring muscles were the most active. A variation in the functioning of the hamstring muscles and that of the gluteus maximus and iliopsoas in the case of a previous injury could account for the differences observed in the kicking pattern. Therefore, the effects of a previous hamstring injury must be considered while designing rehabilitation programs to re-educate kicking movement.

  15. Do clinical diagnoses correlate with pathological diagnoses in cardiac transplant patients? The importance of endomyocardial biopsy

    DEFF Research Database (Denmark)

    Luk, Adriana; Metawee, Mohammed; Ahn, Eric

    2009-01-01

    . Patient records were reviewed for preoperative clinical diagnoses and other relevant data, including pretransplant endomyocardial biopsy (EMB) results, information regarding left ventricular assist devices and, finally, evidence of disease recurrence in the grafted heart. RESULTS: A shift...... diagnose patients with diseases such as sarcoidosis, amyloidosis and particular types of myocarditis because these can readily recur in the grafted heart. The risk for recurrence must be known to practitioners and, most importantly, to the patient. We strongly recommend the use of EMB if a nonischemic...

  16. Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.

    Science.gov (United States)

    Gasse, Barbara; Prasad, Megana; Delgado, Sidney; Huckert, Mathilde; Kawczynski, Marzena; Garret-Bernardin, Annelyse; Lopez-Cazaux, Serena; Bailleul-Forestier, Isabelle; Manière, Marie-Cécile; Stoetzel, Corinne; Bloch-Zupan, Agnès; Sire, Jean-Yves

    2017-01-01

    Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encoding genes. A range of mutations in the enamel cleavage enzyme matrix metalloproteinase-20 gene ( MMP20 ) produce enamel defects of varying severity. To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations in French patients diagnosed with non-syndromic AI. Genomic DNA was isolated from saliva and MMP20 exons and exon-intron boundaries sequenced. We identified several homozygous or heterozygous mutations, putatively involved in the AI phenotypes. To validate missense mutations and predict sensitive positions in the MMP20 sequence, we evolutionarily compared 75 sequences extracted from the public databases using the Datamonkey webserver. These sequences were representative of mammalian lineages, covering more than 150 million years of evolution. This analysis allowed us to find 324 sensitive positions (out of the 483 MMP20 residues), pinpoint functionally important domains, and build an evolutionary chart of important conserved MMP20 regions. This is an efficient tool to identify new- and previously-identified mutations. We thus identified six functional MMP20 mutations in unrelated families, finding two novel mutated sites. The genotypes and phenotypes of these six mutations are described and compared. To date, 13 MMP20 mutations causing AI have been reported, making these genotypes and associated hypomature enamel phenotypes the most frequent in AI.

  17. Policy implications for familial searching.

    Science.gov (United States)

    Kim, Joyce; Mammo, Danny; Siegel, Marni B; Katsanis, Sara H

    2011-11-01

    In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforcement agencies a powerful tool for developing investigative leads, apprehending criminals, revitalizing cold cases and exonerating wrongfully convicted individuals. As familial searching involves a range of logistical, social, ethical and legal considerations, states are now grappling with policy options for implementing familial searching to balance crime fighting with its potential impact on society. When developing policies for familial searching, legislators should take into account the impact of familial searching on select populations and the need to minimize personal intrusion on relatives of individuals in the DNA database. This review describes the approaches used to narrow a suspect pool from a partial match search of CODIS and summarizes the economic, ethical, logistical and political challenges of implementing familial searching. We examine particular US state policies and the policy options adopted to address these issues. The aim of this review is to provide objective background information on the controversial approach of familial searching to inform policy decisions in this area. Herein we highlight key policy options and recommendations regarding effective utilization of familial searching that minimize harm to and afford maximum protection of US citizens.

  18. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  19. Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia

    Energy Technology Data Exchange (ETDEWEB)

    Feussner, G.; Dobmeyer, J. [Univ. of Heidelberg (Germany); Nissen, H.; Hansen, T.S. [Odense Univ. Hospital (Denmark)

    1996-10-16

    We report on a 20-year-old man with the combination of two independent familial lipoprotein disorders: heterozygous familial hypercholesterolemia (FH) and type III hyperlipoproteinemia (HLP). Familial hypercholesterolemia was diagnosed by elevated total and low density lipoprotein cholesterol levels and family history. By denaturing gradient gel electrophoresis, DNA sequencing and restriction fragment length polymorphism analysis, a G{r_arrow}A splice donor mutation in intron 3 of the proband`s low density lipoprotein receptor gene was identified as the underlying molecular defect. This mutation was described previously as a receptor-negative founder mutation in Norway (FH-Elverum) and subsequently in 6 unrelated heterozygous English patients, creating a severe phenotype of familial hypercholesterolemia. Type III HLP was confirmed by homozygosity for apolipoprotein (apo) E2 and an elevated ratio of very low density lipoprotein cholesterol to serum triglycerides (0.40; normal ratio about 0.20). The patient has unusual flat xanthomas in the interdigital webs of the hands which are normally not found in either disease. These dermatological findings might therefore be indicative of the rare combination of both disorders of lipoprotein metabolism in one individual. 29 refs., 5 figs., 1 tab.

  20. The high price of depression: Family members' health conditions and health care costs.

    Science.gov (United States)

    Ray, G Thomas; Weisner, Constance M; Taillac, Cosette J; Campbell, Cynthia I

    2017-05-01

    To compare the health conditions and health care costs of family members of patients diagnosed with a Major Depressive Disorder (MDD) to family members of patients without an MDD diagnosis. Using electronic health record data, we identified family members (n=201,914) of adult index patients (n=92,399) diagnosed with MDD between 2009 and 2014 and family members (n=187,011) of matched patients without MDD. Diagnoses, health care utilization and costs were extracted for each family member. Logistic regression and multivariate models were used to compare diagnosed health conditions, health services cost, and utilization of MDD and non-MDD family members. Analyses covered the 5years before and after the index patient's MDD diagnosis. MDD family members were more likely than non-MDD family members to be diagnosed with mood disorders, anxiety, substance use disorder, and numerous other conditions. MDD family members had higher health care costs than non-MDD family members in every period analyzed, with the highest difference being in the year before the index patient's MDD diagnosis. Family members of patients with MDD are more likely to have a number of health conditions compared to non-MDD family members, and to have higher health care cost and utilization. Copyright © 2017. Published by Elsevier Inc.

  1. Hospital-diagnosed dementia and suicide

    DEFF Research Database (Denmark)

    Erlangsen, Annette; Zarit, Steven H; Conwell, Yeates

    2008-01-01

    OBJECTIVE: The current study aims to examine the risk of suicide in persons diagnosed with dementia during a hospitalization and its relationship to mood disorders. DESIGN: Event-history analysis using time-varying covariates. SETTING: Population-based record linkage. PARTICIPANTS: All individuals...... who are aged 70 or older with dementia have a threefold higher risk than persons with no dementia. The time shortly after diagnosis is associated with an elevated suicide risk. The risk among persons with dementia remains significant when controlling for mood disorders. As many as 26% of the men...... aged 50+ living in Denmark (N=2,474,767) during January 1, 1990 through December 31, 2000. MEASUREMENTS: Outcome of interest is suicide. Relative risks are calculated based on person-days spent in each stratum. RESULTS: A total of 18,648,875 person-years were observed during the 11-year study period...

  2. Diagnosing the Internal Architecture of Zeolite Ferrierite

    Science.gov (United States)

    Schmidt, Joel E.; Hendriks, Frank C.; Lutz, Martin; Post, L. Christiaan; Fu, Donglong

    2017-01-01

    Abstract Large crystals of zeolite ferrierite (FER) are important model systems for spatially resolved catalysis and diffusion studies, though there is considerable variation in crystal habit depending on the chemical composition and employed synthesis conditions. A synergistic combination of techniques has been applied, including single crystal X‐ray diffraction, high‐temperature in situ confocal fluorescence microscopy, fluorescent probe molecules, wide‐field microscopy and atomic force microscopy to unravel the internal architecture of three distinct FER zeolites. Pyrolyzed template species can be used as markers for the 8‐membered ring direction as they are trapped in the terraced roof of the FER crystals. This happens as the materials grow in a layer‐by‐layer, defect‐free manner normal to the large crystal surface, and leads to a facile method to diagnose the pore system orientation, which avoids tedious single crystal X‐ray diffraction experiments. PMID:28809081

  3. Diagnosing MOV problems using comparative trace analysis

    International Nuclear Information System (INIS)

    Leon, R.L.

    1992-01-01

    The paper presents the concept of comparative trace analysis and shows it to be very effective in diagnosing motor operated valve (MOV) problems. Comparative trace analysis is simply the process of interpreting simultaneously gathered traces, each presenting a different perspective on the same series of events. The opening and closing of a motor operated valve is such a series of events. The simultaneous traces are obtained using Liberty Technologies' Valve Operation Test and Evaluation System (VOTES)reg-sign. The traces include stem thrust, motor current, motor power factor, motor power, switch actuations, vibration in three different frequency bands, spring pack displacement, and spring pack force. Spare and auxiliary channels enable additional key parameters to be measured, such as differential pressure and stem displacement. Though not specifically illustrated in this paper, the VOTES system also provides for FFT analysis on all traces except switches

  4. Diagnosing dehydration? Blend evidence with clinical observations.

    Science.gov (United States)

    Armstrong, Lawrence E; Kavouras, Stavros A; Walsh, Neil P; Roberts, William O

    2016-11-01

    The purpose of the review is to provide recommendations to improve clinical decision-making based on the strengths and weaknesses of commonly used hydration biomarkers and clinical assessment methods. There is widespread consensus regarding treatment, but not the diagnosis of dehydration. Even though it is generally accepted that a proper clinical diagnosis of dehydration can only be made biochemically rather than relying upon clinical signs and symptoms, no gold standard biochemical hydration index exists. Other than clinical biomarkers in blood (i.e., osmolality and blood urea nitrogen/creatinine) and in urine (i.e., osmolality and specific gravity), blood pressure assessment and clinical symptoms in the eye (i.e., tear production and palpitating pressure) and the mouth (i.e., thirst and mucous wetness) can provide important information for diagnosing dehydration. We conclude that clinical observations based on a combination of history, physical examination, laboratory values, and clinician experience remain the best approach to the diagnosis of dehydration.

  5. Optical coherence tomography for diagnosing periodontal disease

    Science.gov (United States)

    Colston, Bill W., Jr.; Everett, Matthew J.; Da Silva, Luiz B.; Otis, Linda L.; Nathel, Howard

    1997-05-01

    We have, in this preliminary study, investigated the use of optical coherence tomography for diagnosis of periodontal disease. We took in vitro OCT images of the dental and periodontal tissues from a young pig and compared them to histological sections. These images distinguish tooth and soft tissue relationships that are important in diagnosing and assessing periodontal disease. We have imaged the attachment of gingiva to the tooth surface and located the cemento-enamel junction. This junction is an important reference point for defining attachment level in the diagnosis of periodontal disease. the boundary between enamel and dentin is also visible for most of the length of the anatomical crown, allowing quantitation of enamel thickness and character.

  6. Alternative diagnoses at paediatric appendicitis MRI

    International Nuclear Information System (INIS)

    Moore, M.M.; Kulaylat, A.N.; Brian, J.M.; Khaku, A.; Hulse, M.A.; Engbrecht, B.W.; Methratta, S.T.; Boal, D.K.B.

    2015-01-01

    As the utilization of MRI in the assessment for paediatric appendicitis increases in clinical practice, it is important to recognize alternative diagnoses as the cause of abdominal pain. The purpose of this review is to share our institution's experience using MRI in the evaluation of 510 paediatric patients presenting with suspected appendicitis over a 30 month interval (July 2011 to December 2013). An alternative diagnosis was documented in 98/510 (19.2%) patients; adnexal pathology (6.3%, n = 32), enteritis–colitis (6.3%, n = 32), and mesenteric adenitis (2.2%, n = 11) comprised the majority of cases. These common entities and other less frequent illustrative cases obtained during our overall institutional experience with MRI for suspected appendicitis are reviewed

  7. Automated diagnostic kiosk for diagnosing diseases

    Science.gov (United States)

    Regan, John Frederick; Birch, James Michael

    2014-02-11

    An automated and autonomous diagnostic apparatus that is capable of dispensing collection vials and collections kits to users interesting in collecting a biological sample and submitting their collected sample contained within a collection vial into the apparatus for automated diagnostic services. The user communicates with the apparatus through a touch-screen monitor. A user is able to enter personnel information into the apparatus including medical history, insurance information, co-payment, and answer a series of questions regarding their illness, which is used to determine the assay most likely to yield a positive result. Remotely-located physicians can communicate with users of the apparatus using video tele-medicine and request specific assays to be performed. The apparatus archives submitted samples for additional testing. Users may receive their assay results electronically. Users may allow the uploading of their diagnoses into a central databank for disease surveillance purposes.

  8. Discrete event systems diagnosis and diagnosability

    CERN Document Server

    Sayed-Mouchaweh, Moamar

    2014-01-01

    Discrete Event Systems: Diagnosis and Diagnosability addresses the problem of fault diagnosis of Discrete Event Systems (DES). This book provides the basic techniques and approaches necessary for the design of an efficient fault diagnosis system for a wide range of modern engineering applications. The different techniques and approaches are classified according to several criteria such as: modeling tools (Automata, Petri nets) that is used to construct the model; the information (qualitative based on events occurrences and/or states outputs, quantitative based on signal processing and data analysis) that is needed to analyze and achieve the diagnosis; the decision structure (centralized, decentralized) that is required to achieve the diagnosis. The goal of this classification is to select the efficient method to achieve the fault diagnosis according to the application constraints. This book focuses on the centralized and decentralized event based diagnosis approaches using formal language and automata as mode...

  9. Excess mortality in patients diagnosed with hypothyroidism

    DEFF Research Database (Denmark)

    Thvilum, Marianne; Brandt, Frans; Pedersen, Dorthe Almind

    2013-01-01

    Background: Although hypothyroidism is associated with increased morbidity, an association with increased mortality is still debated. Our objective was to investigate, at a nationwide level, whether a diagnosis of hypothyroidism influences mortality. Methods: In an observational cohort study from...... January 1, 1978 until December 31, 2008 using record-linkage data from nationwide Danish health registers, 3587 singletons and 682 twins diagnosed with hypothyroidism were identified. Hypothyroid individuals were matched 1:4 with nonhypothyroid controls with respect to age and gender and followed over...... a mean period of 5.6 years (range 0-30 years). The hazard ratio (HR) for mortality was calculated using Cox regression analyses. Comorbidity was evaluated using the Charlson score (CS). Results: In singletons with hypothyroidism, the mortality risk was increased (HR 1.52; 95% confidence interval [CI]: 1...

  10. Simple Additive Weighting to Diagnose Rabbit Disease

    Directory of Open Access Journals (Sweden)

    Ramadiani

    2018-01-01

    Full Text Available Rabbit is one of the many pets maintained by the general public in Indonesia. Like other pet, rabbits are also susceptible to various diseases. Society in general does not understand correctly the type of rabbit disease and the way of treatment. To help care for sick rabbits it is necessary a decision support system recommendation diagnosis of rabbit disease. The purpose of this research is to make the application of rabbit disease diagnosis system so that can help user in taking care of rabbit. This application diagnoses the disease by tracing the symptoms and calculating the recommendation of the disease using Simple Additive Weighting method. This research produces a web-based decision support system that is used to help rabbit breeders and the general public.

  11. Simple Additive Weighting to Diagnose Rabbit Disease

    Science.gov (United States)

    Ramadiani; Marissa, Dyna; Jundillah, Muhammad Labib; Azainil; Hatta, Heliza Rahmania

    2018-02-01

    Rabbit is one of the many pets maintained by the general public in Indonesia. Like other pet, rabbits are also susceptible to various diseases. Society in general does not understand correctly the type of rabbit disease and the way of treatment. To help care for sick rabbits it is necessary a decision support system recommendation diagnosis of rabbit disease. The purpose of this research is to make the application of rabbit disease diagnosis system so that can help user in taking care of rabbit. This application diagnoses the disease by tracing the symptoms and calculating the recommendation of the disease using Simple Additive Weighting method. This research produces a web-based decision support system that is used to help rabbit breeders and the general public.

  12. Secondary recurrent miscarriage is associated with previous male birth.

    LENUS (Irish Health Repository)

    Ooi, Poh Veh

    2012-01-31

    Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

  13. Secondary recurrent miscarriage is associated with previous male birth.

    LENUS (Irish Health Repository)

    Ooi, Poh Veh

    2011-01-01

    Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

  14. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  15. Causes and outcome of prenatally diagnosed hydronephrosis

    International Nuclear Information System (INIS)

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-01-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or nonobstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> 15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydronephrosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed complications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydronephrosis should be assessed postnatally for specific diagnosis and treatment. (author)

  16. Hope in newly diagnosed cancer patients.

    Science.gov (United States)

    Duggleby, Wendy; Ghosh, Sunita; Cooper, Dan; Dwernychuk, Lynne

    2013-11-01

    Hope is important to cancer patients as it helps them deal with their diagnosis. Little is known about hope in newly diagnosed cancer patients. Based on the Transcending Possibilities conceptual model of hope, the purpose of this study was to examine the relationship of hope with pain, energy, and psychological and demographic characteristics in newly diagnosed adult oncology outpatients. Data from 310 New Patient Assessment Forms from cancer outpatients' health records were collected. Health records from the first six months of 2009 were reviewed and data were collected on hope, energy, pain, depression, anxiety, feeling overwhelmed, and demographic variables. A generalized linear modeling approach was used to study the relationship of hope scores with these variables. Hypothesized variables and variables that were significant at the P = 0.01 level from the univariate analysis were entered into the multivariate model, with hope scores as the dependent variable. Hope scores were significantly negatively related to age (P = 0.02). More specifically, oncology patients who were 65 years of age or older had significantly less hope than those under the age of 65 years (P = 0.01). Gender (P = 0.009) also was a significant factor, with men having higher hope scores than women. No other variables were significant. Older adults comprise the majority of persons in Canada with cancer. The lower hope scores found in this age group compared with their younger counterparts underscore the importance of further research. This study provides a foundation for future research in this important area for oncology patients. Copyright © 2013 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

  17. Transbronchial biopsies safely diagnose amyloid lung disease

    Science.gov (United States)

    Govender, Praveen; Keyes, Colleen M.; Hankinson, Elizabeth A.; O’Hara, Carl J.; Sanchorawala, Vaishali; Berk, John L.

    2018-01-01

    Background Autopsy identifies lung involvement in 58–92% of patients with the most prevalent forms of systemic amyloidoses. In the absence of lung biopsies, amyloid lung disease often goes unrecognized. Report of a death following transbronchial biopsies in a patient with systemic amyloidosis cautioned against the procedure in this patient cohort. We reviewed our experience with transbronchial biopsies in patients with amyloidosis to determine the safety and utility of bronchoscopic lung biopsies. Methods We identified patients referred to the Amyloidosis Center at Boston Medical Center with lung amyloidosis diagnosed by transbronchial lung biopsies (TBBX). Amyloid typing was determined by immunohistochemistry or mass spectrometry. Standard end organ assessments, including pulmonary function test (PFT) and chest tomography (CT) imaging, and extra-thoracic biopsies established the extent of disease. Results Twenty-five (21.7%) of 115 patients with lung amyloidosis were diagnosed by TBBX. PFT classified 33.3% with restrictive physiology, 28.6% with obstructive disease, and 9.5% mixed physiology; 9.5% exhibited isolated diffusion defects while 19% had normal pulmonary testing. Two view chest or CT imaging identified focal opacities in 52% of cases and diffuse interstitial disease in 48%. Amyloid type and disease extent included 68% systemic AL disease, 16% localized (lung limited) AL disease, 12% ATTR disease, and 4% AA amyloidosis. Fluoroscopy was not used during biopsy. No procedure complications were reported. Conclusions Our case series of 25 patients supports the use of bronchoscopic transbronchial biopsies for diagnosis of parenchymal lung amyloidosis. Normal PFTs do not rule out the histologic presence of amyloid lung disease. PMID:28393574

  18. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    International Nuclear Information System (INIS)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes

  19. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  20. Is previous hyperthyroidism associated with long-term cognitive dysfunction?

    DEFF Research Database (Denmark)

    Lillevang-Johansen, Mads; Petersen, Inge; Christensen, Kaare

    2014-01-01

    National Patient Registry and 3036 twin pairs from The Danish Twin Registry, who had participated in nationwide surveys on health conditions. MEASUREMENTS: Among other investigations, survey participants had carried out cognitive tests including a Mini-Mental State Exam (MMSE) and six separate cognitive...... tests. Based on five of the tests a composite cognitive score was calculated. RESULTS: 55 out of 3036 twin pairs were discordant for hyperthyroidism. The mean time from diagnosis until survey participation was 7.3 years (range: 0-24.1 years). In both the intra-pair and individual level analyses......, the hyperthyroid twin scored significantly better in the MMSE than did the healthy co-twin (p=0.023 and p=0.038, respectively). The same tendency was found in the other cognitive tests, and after analysing twins diagnosed with hyperthyroidism more than two years before participating, although none were...

  1. How Do Health Care Providers Diagnose Turner Syndrome?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

  2. Nursing diagnoses determined by first year students: a vignette study.

    Science.gov (United States)

    Hakverdioğlu Yönt, Gülendam; Korhan, Esra Akın; Erdemir, Firdevs; Müller-Staub, Maria

    2014-02-01

    The study aimed to determine the ability of first year students in identifying nursing diagnoses. In a descriptive evaluation study, an expert-validated vignette containing 18 nursing diagnoses was used. The students determined 15 nursing diagnoses. The highest percentages of diagnoses identified were disturbed sleep pattern and nutrition imbalance. Students also considered medical diagnoses as nursing diagnoses: hypertension and tachycardia. Despite the fact that students were only at the end of their first semester and had limited clinical experience, they successfully identified the majority of nursing diagnoses. Patient case study vignettes are recommended for education. To foster students' knowledge and experience, it is also suggested that evaluating nursing diagnoses in clinical practicals becomes a requirement. © 2013 NANDA International, Inc.

  3. The visibility of cancer on previous mammograms in retrospective review

    International Nuclear Information System (INIS)

    Saarenmaa, I.; Salminen, T.; Geiger, U.; Heikkinen, P.; Hyvarinen, S.; Isola, J.; Kataja, V.; Kokko, M.-L.; Kokko, R.; Kumpulainen, E.; Karkkainen, A.; Pakkanen, J.; Peltonen, P.; Piironen, A.; Salo, A.; Talviala, M.-L.; Hakama, M.

    2001-01-01

    AIM: To study how many tumours were visible in restrospect on mammograms originally reported as normal or benign in patients coming to surgery with proven breast cancer. The effect of making the pre--operative mammogram available was also assessed. MATERIALS AND METHODS: Three hundred and twenty initial mammograms of consecutive new breast cancer cases were analysed by a group of radiologists in the knowledge that all patients were later diagnosed with breast cancer. The films were read twice, first without and then with the later (pre-operative) mammograms available. The parenchymal density in the location of the tumour was classified as fatty, mixed or dense, and the tumours were classified as visible or not visible. The reasons for the invisibility of the tumour in the earlier examination were analysed. RESULTS: Fourteen per cent (45) of cancers were retrospectively visible in earlier mammograms without the pre-operative mammograms having been shown, and 29% (95) when pre-operative mammograms were shown. Breast parenchymal density decreased with age and the visibility of tumours increased with age. When considered simultaneously, the effect of age (over 55 vs under 55) was greater (OR = 2.9) than the effect of density (fatty vs others) (OR = 1.5). The most common reasons for non-detection were that the lesion was overlooked (55%), diagnosed as benign (33%) or was visible only in one projection (26%). Growing density was the most common (37%) feature of those lesions originally overlooked or regarded as benign. CONCLUSIONS: Tumours are commonly visible in retrospect, but few of them exhibit specific signs of cancer, and are recognized only if they grow or otherwise change. It is not possible to differentiate most of them from normal parenchymal densities. Saaremaa, I. (2001)

  4. [Prevalence of osteoporosis, estimation of probability of fracture and bone metabolism study in patients with newly diagnosed prostate cancer in the health area of Lugo].

    Science.gov (United States)

    Miguel-Carrera, Jonatan; García-Porrua, Carlos; de Toro Santos, Francisco Javier; Picallo-Sánchez, Jose Antonio

    2018-03-01

    To study the prevalence of osteoporosis and fracture probability in patients diagnosed with prostate cancer. Observational descriptive transversal study. SITE: Study performed from Primary Care of Lugo in collaboration with Rheumatology and Urology Services of our referral hospital. Patients diagnosed with prostate cancer without bone metastatic disease from January to December 2012. Epidemiologic, clinical, laboratory and densitometric variables involved in osteoporosis were collected. The likelihood of fracture was estimated by FRAX ® Tool. Eighty-three patients met the inclusion criteria. None was excluded. The average age was 67 years. The Body Mass Index was 28.28. Twenty-five patients (30.1%) had previous osteoporotic fractures. Other prevalent risk factors were alcohol (26.5%) and smoking (22.9%). Eighty-two subjects had vitamin D below normal level (98.80%). Femoral Neck densitometry showed that 8.9% had osteoporosis and 54% osteopenia. The average fracture risk in this population, estimated by FRAX ® , was 2.63% for hip fracture and 5.28% for major fracture. Cut level for FRAX ® major fracture value without DXA >5% and ≥7.5% proposed by Azagra et al. showed 24 patients (28.92%) and 8 patients (9.64%) respectively. The prevalence of osteoporosis in this population was very high. The more frequent risk factors associated with osteoporosis were: previous osteoporotic fracture, alcohol consumption, smoking and family history of previous fracture. The probability of fracture using femoral neck FRAX ® tool was low. Vitamin D deficiency was very common (98.8%). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  5. Defining Crisis in Families of Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Weiss, Jonathan A.; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can…

  6. Dysfunctional Families of the Student with Special Needs.

    Science.gov (United States)

    Daniels-Mohring, Debbie; Lambie, Rosemary

    1993-01-01

    This paper outlines the changes that occur in family systems when a child is diagnosed with special needs and examines the structure of dysfunctional families in which there is a child with physical disabilities, including chronic illness; behavior disorders, including social maladjustment; learning disabilities; or mental retardation. (JDD)

  7. Queer diagnoses revisited: The past and future of homosexuality and gender diagnoses in DSM and ICD.

    Science.gov (United States)

    Drescher, Jack

    2015-01-01

    The American Psychiatric Association (APA) recently completed a several year process of revising the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). During that time, there were objections raised to retaining DSM's gender identity disorder diagnoses and calls to remove them, just as homosexuality had been removed from DSM-II in 1973. At the conclusion of the DSM-5 revision process, the gender diagnoses were retained, albeit in altered form and bearing the new name of 'gender dysphoria'. The author of this paper was a member of the DSM-5 Workgroup on Sexual and Gender Identity Disorders and presently serves on the WHO Working Group on Sexual Disorders and Sexual Health. Both groups faced similar tasks: reconciling patients' needs for access to care with the stigma of being given a psychiatric diagnosis. The differing nature of the two diagnostic manuals led to two different outcomes. As background, this paper updates the history of homosexuality and the gender diagnoses in the DSM and in the International Statistical Classification of Diseases and Related Health Problems (ICD) as well as what is expected to happen to the homosexuality and gender diagnoses following the current ICD-11 revision process.

  8. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-06-14

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world.

  9. Regional identity and family

    Directory of Open Access Journals (Sweden)

    Tripković Gordana D.

    2003-01-01

    Full Text Available This paper is a continuation of a study on regionalisation and family, within the project named Sociological Aspects of Multiculturality and Regionalisation and their influence on the development of AP Vojvodina and the Republic of Serbia. The author focuses her attention to operationalisation of the theoretical and methodological premises that were developed in the previous paper (Tripković, 2002: 111-127, which means that it represents the results of the second phase of the research plan. This phase includes adjusting of theoretical concepts to the fieldwork displaying the results of the research and the analysis of the findings that put a family in the context of confronting different identities, above all national and regional. As possible "identity difference" was emphasized in the research, theoretical and methodological apparatus was adjusted to this goal. That is why in this paper the replies of interviewees that can suggest or reject the assumption that their national identity can influence significantly the evaluation of identity specificities are presented and analyzed, concerning more or less visible aspects of family life, like welfare status, relations between spouses, respect to the elder, family harmony, number of children, connections with relatives, etc.

  10. Family characteristics of stuttering children

    Directory of Open Access Journals (Sweden)

    Simić-Ružić Budimirka

    2008-01-01

    Full Text Available INTRODUCTION Stuttering is a functional impairment of speech, which is manifested by conscious, but nonintentionally interrupted, disharmonic and disrhythmic fluctuation of sound varying in frequency and intensity. Aetiology of this disorder has been conceived within the frame of theoretical models, which tend to connect genetic and epigenetic factors. OBJECTIVE The goal of the paper was to study the characteristics of the family functioning of stuttering children in comparison to the family functioning of children without speech disorder, which confirmed the justification of the introduction of family orientated therapeutic interventions into the therapy spectrum of child stuttering. METHOD Seventy-nine nucleus families of 3 to 6 year-old children were examined; of these, 39 families had stuttering children and 40 had children without speech disorder. The assessment of family characteristics was made using the Family Health Scale, an observer-rating scale which according to semistructured interview and operational criteria, measures 6 basic dimensions of family functioning: Emotional State, Communication, Borders, Alliances, Adaptability & Stability, Family Skills. A total score calculated from the basic dimensions, is considered as a global index of family health. RESULTS Families with stuttering children compared to families with children without speech disorder showed significantly lower scores in all the basic dimension of family functioning, as well as in the total score on the Family Health Scale. CONCLUSION Our research results have shown that stuttering children in comparison with children without speech disorder live in families with unfavorable emotional atmosphere, impaired communication and worse control over situational and developmental difficulties, which affect children's development and well-being. In the light of previous research, the application of family therapy modified according to the child's needs is now considered

  11. Erlotinib-induced rash spares previously irradiated skin

    International Nuclear Information System (INIS)

    Lips, Irene M.; Vonk, Ernest J.A.; Koster, Mariska E.Y.; Houwing, Ronald H.

    2011-01-01

    Erlotinib is an epidermal growth factor receptor inhibitor prescribed to patients with locally advanced or metastasized non-small cell lung carcinoma after failure of at least one earlier chemotherapy treatment. Approximately 75% of the patients treated with erlotinib develop acneiform skin rashes. A patient treated with erlotinib 3 months after finishing concomitant treatment with chemotherapy and radiotherapy for non-small cell lung cancer is presented. Unexpectedly, the part of the skin that had been included in his previously radiotherapy field was completely spared from the erlotinib-induced acneiform skin rash. The exact mechanism of erlotinib-induced rash sparing in previously irradiated skin is unclear. The underlying mechanism of this phenomenon needs to be explored further, because the number of patients being treated with a combination of both therapeutic modalities is increasing. The therapeutic effect of erlotinib in the area of the previously irradiated lesion should be assessed. (orig.)

  12. Reasoning with Previous Decisions: Beyond the Doctrine of Precedent

    DEFF Research Database (Denmark)

    Komárek, Jan

    2013-01-01

    in different jurisdictions use previous judicial decisions in their argument, we need to move beyond the concept of precedent to a wider notion, which would embrace practices and theories in legal systems outside the Common law tradition. This article presents the concept of ‘reasoning with previous decisions...... law method’, but they are no less rational and intellectually sophisticated. The reason for the rather conceited attitude of some comparatists is in the dominance of the common law paradigm of precedent and the accompanying ‘case law method’. If we want to understand how courts and lawyers......’ as such an alternative and develops its basic models. The article first points out several shortcomings inherent in limiting the inquiry into reasoning with previous decisions by the common law paradigm (1). On the basis of numerous examples provided in section (1), I will present two basic models of reasoning...

  13. Effectiveness of Family, Child, and Family-Child Based Intervention on ADHD Symptoms of Students with Disabilities

    Science.gov (United States)

    Malekpour, Mokhtar; Aghababaei, Sara; Hadi, Samira

    2014-01-01

    The aim of the present study was to investigate and compare the effectiveness of family, child, and family-child based intervention on the rate of ADHD symptoms in third grade students. The population for this study was all of students with ADHD diagnoses in the city of Isfahan, Iran. The multistage random sampling method was used to select the 60…

  14. Cardiovascular magnetic resonance in adults with previous cardiovascular surgery.

    Science.gov (United States)

    von Knobelsdorff-Brenkenhoff, Florian; Trauzeddel, Ralf Felix; Schulz-Menger, Jeanette

    2014-03-01

    Cardiovascular magnetic resonance (CMR) is a versatile non-invasive imaging modality that serves a broad spectrum of indications in clinical cardiology and has proven evidence. Most of the numerous applications are appropriate in patients with previous cardiovascular surgery in the same manner as in non-surgical subjects. However, some specifics have to be considered. This review article is intended to provide information about the application of CMR in adults with previous cardiovascular surgery. In particular, the two main scenarios, i.e. following coronary artery bypass surgery and following heart valve surgery, are highlighted. Furthermore, several pictorial descriptions of other potential indications for CMR after cardiovascular surgery are given.

  15. Designing and recruiting to UK autism spectrum disorder research databases: do they include representative children with valid ASD diagnoses?

    Science.gov (United States)

    Warnell, F; George, B; McConachie, H; Johnson, M; Hardy, R; Parr, J R

    2015-09-04

    (1) Describe how the Autism Spectrum Database-UK (ASD-UK) was established; (2) investigate the representativeness of the first 1000 children and families who participated, compared to those who chose not to; (3) investigate the reliability of the parent-reported Autism Spectrum Disorder (ASD) diagnoses, and present evidence about the validity of diagnoses, that is, whether children recruited actually have an ASD; (4) present evidence about the representativeness of the ASD-UK children and families, by comparing their characteristics with the first 1000 children and families from the regional Database of children with ASD living in the North East (Dasl(n)e), and children and families identified from epidemiological studies. Recruitment through a network of 50 UK child health teams and self-referral. Parents/carers with a child with ASD, aged 2-16 years, completed questionnaires about ASD and some gave professionals' reports about their children. 1000 families registered with ASD-UK in 30 months. Children of families who participated, and of the 208 who chose not to, were found to be very similar on: gender ratio, year of birth, ASD diagnosis and social deprivation score. The reliability of parent-reported ASD diagnoses of children was very high when compared with clinical reports (over 96%); no database child without ASD was identified. A comparison of gender, ASD diagnosis, age at diagnosis, school placement, learning disability, and deprivation score of children and families from ASD-UK with 1084 children and families from Dasl(n)e, and families from population studies, showed that ASD-UK families are representative of families of children with ASD overall. ASD-UK includes families providing parent-reported data about their child and family, who appear to be broadly representative of UK children with ASD. Families continue to join the databases and more than 3000 families can now be contacted by researchers about UK autism research. Published by the BMJ

  16. An Evaluability Assessment of the Toyota Families in Schools Program.

    Science.gov (United States)

    Quint, Janet

    The Toyota Families in Schools (TFS) Program is a new family literacy initiative that was developed by the National Center for Family Literacy (NCFL) with support from the Toyota Motor Corporation. TFS is based on a previous NCFL model calling for providing literacy activities to preschoolers and parents from low-income families. NCFL wanted to…

  17. Associations between Family Communication Patterns, Sibling Closeness, and Adoptive Status

    Science.gov (United States)

    Samek, Diana R.; Rueter, Martha A.

    2011-01-01

    Previous research has demonstrated the protective effect of family and sibling closeness on child adjustment, but fewer studies have investigated how closeness is promoted within families. Guided by Family Communication Patterns Theory, we tested the association between family communication and sibling emotional and behavioral closeness, and…

  18. Bullying Victimization and Perpetration and Their Correlates in Adolescents Clinically Diagnosed With ADHD.

    Science.gov (United States)

    Chou, Wen-Jiun; Liu, Tai-Ling; Yang, Pinchen; Yen, Cheng-Fang; Hu, Huei-Fan

    2018-01-01

    To examine the prevalence rates of bullying involvement and their correlates in adolescents diagnosed with ADHD in Taiwan. Bullying involvement, family and ADHD characteristics, the levels of behavioral inhibition system (BIS) and behavioral approach system (BAS), and psychiatric comorbidity were assessed in 287 adolescents with ADHD. The multiple regression analysis was used to examine the correlate of bullying victimization and perpetration. The prevalence rates of the pure victims, pure perpetrators, and victim-perpetrators were 14.6%, 8.4%, and 5.6%, respectively. Young age, a high BIS score, autism spectrum disorders, and low satisfaction with family relationships were associated with severe bullying victimization. A high score of fun seeking on the BAS and low satisfaction with family relationships were associated with severe bullying perpetration. A high proportion of adolescents with ADHD are involved in bullying. Multiple factors are associated with bullying involvement in adolescents with ADHD.

  19. Radiological evaluation of familial osteopetrosis

    International Nuclear Information System (INIS)

    Moon, Moo Chang; Kang, Shin Wha; Won, Jong Jin; Rhee, Song Joo; Choi, Ki Chul

    1980-01-01

    Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings

  20. Toddler's Paralysis: An Acute Case of Leg Stiffening in a Previously Healthy 2-Year-Old.

    Science.gov (United States)

    Kahne, Kimberly Renee; Tay, Ee Tein

    2018-05-14

    Vegetarian and vegan diets are gaining popularity in the United States. Although appropriately planned vegetarian diets, including vegan diets, are healthful and nutritionally adequate and may provide health benefits in the prevention and treatment of certain diseases, not all families are aware of the nutritional supplements that may be required for their children. We describe a case of a 2-year-old previously healthy child consuming a vegan diet who presented to the pediatric emergency department with an acute inability to move her legs. Ionized calcium was found to be 0.89 mmol/L, and symptoms completely resolved within 2 hours of calcium gluconate infusion.

  1. Squamous cell carcinoma arising in previously burned or irradiated skin

    International Nuclear Information System (INIS)

    Edwards, M.J.; Hirsch, R.M.; Broadwater, J.R.; Netscher, D.T.; Ames, F.C.

    1989-01-01

    Squamous cell carcinoma (SCC) arising in previously burned or irradiated skin was reviewed in 66 patients treated between 1944 and 1986. Healing of the initial injury was complicated in 70% of patients. Mean interval from initial injury to diagnosis of SCC was 37 years. The overwhelming majority of patients presented with a chronic intractable ulcer in previously injured skin. The regional relapse rate after surgical excision was very high, 58% of all patients. Predominant patterns of recurrence were in local skin and regional lymph nodes (93% of recurrences). Survival rates at 5, 10, and 20 years were 52%, 34%, and 23%, respectively. Five-year survival rates in previously burned and irradiated patients were not significantly different (53% and 50%, respectively). This review, one of the largest reported series, better defines SCC arising in previously burned or irradiated skin as a locally aggressive disease that is distinct from SCC arising in sunlight-damaged skin. An increased awareness of the significance of chronic ulceration in scar tissue may allow earlier diagnosis. Regional disease control and survival depend on surgical resection of all known disease and may require radical lymph node dissection or amputation

  2. Outcome Of Pregnancy Following A Previous Lower Segment ...

    African Journals Online (AJOL)

    Background: A previous ceasarean section is an important variable that influences patient management in subsequent pregnancies. A trial of vaginal delivery in such patients is a feasible alternative to a secondary section, thus aiding to reduce the ceasarean section rate and its associated co-morbidities. Objective: To ...

  3. 24 CFR 1710.552 - Previously accepted state filings.

    Science.gov (United States)

    2010-04-01

    ... of Substantially Equivalent State Law § 1710.552 Previously accepted state filings. (a) Materials... and contracts or agreements contain notice of purchaser's revocation rights. In addition see § 1715.15..., unless the developer is obligated to do so in the contract. (b) If any such filing becomes inactive or...

  4. The job satisfaction of principals of previously disadvantaged schools

    African Journals Online (AJOL)

    The aim of this study was to identify influences on the job satisfaction of previously disadvantaged ..... I am still riding the cloud … I hope it lasts. .... as a way of creating a climate and culture in schools where individuals are willing to explore.

  5. Haemophilus influenzae type f meningitis in a previously healthy boy

    DEFF Research Database (Denmark)

    Ronit, Andreas; Berg, Ronan M G; Bruunsgaard, Helle

    2013-01-01

    Non-serotype b strains of Haemophilus influenzae are extremely rare causes of acute bacterial meningitis in immunocompetent individuals. We report a case of acute bacterial meningitis in a 14-year-old boy, who was previously healthy and had been immunised against H influenzae serotype b (Hib...

  6. Research Note Effects of previous cultivation on regeneration of ...

    African Journals Online (AJOL)

    We investigated the effects of previous cultivation on regeneration potential under miombo woodlands in a resettlement area, a spatial product of Zimbabwe's land reforms. We predicted that cultivation would affect population structure, regeneration, recruitment and potential grazing capacity of rangelands. Plant attributes ...

  7. Investigation of previously derived Hyades, Coma, and M67 reddenings

    International Nuclear Information System (INIS)

    Taylor, B.J.

    1980-01-01

    New Hyades polarimetry and field star photometry have been obtained to check the Hyades reddening, which was found to be nonzero in a previous paper. The new Hyades polarimetry implies essentially zero reddening; this is also true of polarimetry published by Behr (which was incorrectly interpreted in the previous paper). Four photometric techniques which are presumed to be insensitive to blanketing are used to compare the Hyades to nearby field stars; these four techniques also yield essentially zero reddening. When all of these results are combined with others which the author has previously published and a simultaneous solution for the Hyades, Coma, and M67 reddenings is made, the results are E (B-V) =3 +- 2 (sigma) mmag, -1 +- 3 (sigma) mmag, and 46 +- 6 (sigma) mmag, respectively. No support for a nonzero Hyades reddening is offered by the new results. When the newly obtained reddenings for the Hyades, Coma, and M67 are compared with results from techniques given by Crawford and by users of the David Dunlap Observatory photometric system, no differences between the new and other reddenings are found which are larger than about 2 sigma. The author had previously found that the M67 main-sequence stars have about the same blanketing as that of Coma and less blanketing than the Hyades; this conclusion is essentially unchanged by the revised reddenings

  8. Rapid fish stock depletion in previously unexploited seamounts: the ...

    African Journals Online (AJOL)

    Rapid fish stock depletion in previously unexploited seamounts: the case of Beryx splendens from the Sierra Leone Rise (Gulf of Guinea) ... A spectral analysis and red-noise spectra procedure (REDFIT) algorithm was used to identify the red-noise spectrum from the gaps in the observed time-series of catch per unit effort by ...

  9. 18 CFR 154.302 - Previously submitted material.

    Science.gov (United States)

    2010-04-01

    ... 18 Conservation of Power and Water Resources 1 2010-04-01 2010-04-01 false Previously submitted material. 154.302 Section 154.302 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY... concurrently with the rate change filing. There must be furnished to the Director, Office of Energy Market...

  10. Process cells dismantling of EUREX pant: previous activities

    International Nuclear Information System (INIS)

    Gili, M.

    1998-01-01

    In the '98-'99 period some process cells of the EUREX pant will be dismantled, in order to place there the liquid wastes conditioning plant 'CORA'. This report resumes the previous activities (plant rinsing campaigns and inactive Cell 014 dismantling), run in the past three years and the drawn experience [it

  11. The job satisfaction of principals of previously disadvantaged schools

    African Journals Online (AJOL)

    The aim of this study was to identify influences on the job satisfaction of previously disadvantaged school principals in North-West Province. Evans's theory of job satisfaction, morale and motivation was useful as a conceptual framework. A mixedmethods explanatory research design was important in discovering issues with ...

  12. Obstructive pulmonary disease in patients with previous tuberculosis ...

    African Journals Online (AJOL)

    Obstructive pulmonary disease in patients with previous tuberculosis: Pathophysiology of a community-based cohort. B.W. Allwood, R Gillespie, M Galperin-Aizenberg, M Bateman, H Olckers, L Taborda-Barata, G.L. Calligaro, Q Said-Hartley, R van Zyl-Smit, C.B. Cooper, E van Rikxoort, J Goldin, N Beyers, E.D. Bateman ...

  13. Abiraterone in metastatic prostate cancer without previous chemotherapy

    NARCIS (Netherlands)

    Ryan, Charles J.; Smith, Matthew R.; de Bono, Johann S.; Molina, Arturo; Logothetis, Christopher J.; de Souza, Paul; Fizazi, Karim; Mainwaring, Paul; Piulats, Josep M.; Ng, Siobhan; Carles, Joan; Mulders, Peter F. A.; Basch, Ethan; Small, Eric J.; Saad, Fred; Schrijvers, Dirk; van Poppel, Hendrik; Mukherjee, Som D.; Suttmann, Henrik; Gerritsen, Winald R.; Flaig, Thomas W.; George, Daniel J.; Yu, Evan Y.; Efstathiou, Eleni; Pantuck, Allan; Winquist, Eric; Higano, Celestia S.; Taplin, Mary-Ellen; Park, Youn; Kheoh, Thian; Griffin, Thomas; Scher, Howard I.; Rathkopf, Dana E.; Boyce, A.; Costello, A.; Davis, I.; Ganju, V.; Horvath, L.; Lynch, R.; Marx, G.; Parnis, F.; Shapiro, J.; Singhal, N.; Slancar, M.; van Hazel, G.; Wong, S.; Yip, D.; Carpentier, P.; Luyten, D.; de Reijke, T.

    2013-01-01

    Abiraterone acetate, an androgen biosynthesis inhibitor, improves overall survival in patients with metastatic castration-resistant prostate cancer after chemotherapy. We evaluated this agent in patients who had not received previous chemotherapy. In this double-blind study, we randomly assigned

  14. Response to health insurance by previously uninsured rural children.

    Science.gov (United States)

    Tilford, J M; Robbins, J M; Shema, S J; Farmer, F L

    1999-08-01

    To examine the healthcare utilization and costs of previously uninsured rural children. Four years of claims data from a school-based health insurance program located in the Mississippi Delta. All children who were not Medicaid-eligible or were uninsured, were eligible for limited benefits under the program. The 1987 National Medical Expenditure Survey (NMES) was used to compare utilization of services. The study represents a natural experiment in the provision of insurance benefits to a previously uninsured population. Premiums for the claims cost were set with little or no information on expected use of services. Claims from the insurer were used to form a panel data set. Mixed model logistic and linear regressions were estimated to determine the response to insurance for several categories of health services. The use of services increased over time and approached the level of utilization in the NMES. Conditional medical expenditures also increased over time. Actuarial estimates of claims cost greatly exceeded actual claims cost. The provision of a limited medical, dental, and optical benefit package cost approximately $20-$24 per member per month in claims paid. An important uncertainty in providing health insurance to previously uninsured populations is whether a pent-up demand exists for health services. Evidence of a pent-up demand for medical services was not supported in this study of rural school-age children. States considering partnerships with private insurers to implement the State Children's Health Insurance Program could lower premium costs by assembling basic data on previously uninsured children.

  15. Recent developments in family psychoeducation as an evidence-based practice.

    Science.gov (United States)

    Lucksted, Alicia; McFarlane, William; Downing, Donna; Dixon, Lisa

    2012-01-01

    Among potential resources for people with serious mental illnesses (SMI) and their families, professionally delivered family psychoeducation (FPE) is designed to engage, inform, and educate family members, so that they can assist the person with SMI in managing their illness. In this article, we review research regarding FPE outcomes and implementation since 2001, updating the previous review in this journal (McFarlane, Dixon, Lukens, & Lucksted, Journal of Marital and Family Therapy 2003; 29, 223). Research on a range of FPE variations continues to return mostly positive effects for adults with schizophrenia and increasingly, bipolar disorder. More recent studies include functional outcomes as well as the more common relapse and hospitalization. FPE research involving adults with other diagnoses is increasing, as is FPE research outside the United States In both cases, uneven methodologies and multiple FPE variations make drawing conclusions difficult, although the core utility of access to information, skill building, problem solving, and social support often shines though. Since the previous review, several FPE programs for parents of children or youth with mood disorders have also been developed, with limited research showing more positive than null results. Similarly, we review the developing inquiry into early intervention and FPE, short-form FPE, and cost studies involving FPE. The second half of the article updates the paradox of FPE's evidence base versus its persistently low use, via recent implementation efforts. Multiple challenges and facilitating factors across healthcare systems and financing, individual programs and providers, family members, and consumers shape this issue, and we conclude with discussion of the need for empirical evaluation of implementation strategies and models. © 2011 American Association for Marriage and Family Therapy.

  16. Reoperative sentinel lymph node biopsy after previous mastectomy.

    Science.gov (United States)

    Karam, Amer; Stempel, Michelle; Cody, Hiram S; Port, Elisa R

    2008-10-01

    Sentinel lymph node (SLN) biopsy is the standard of care for axillary staging in breast cancer, but many clinical scenarios questioning the validity of SLN biopsy remain. Here we describe our experience with reoperative-SLN (re-SLN) biopsy after previous mastectomy. Review of the SLN database from September 1996 to December 2007 yielded 20 procedures done in the setting of previous mastectomy. SLN biopsy was performed using radioisotope with or without blue dye injection superior to the mastectomy incision, in the skin flap in all patients. In 17 of 20 patients (85%), re-SLN biopsy was performed for local or regional recurrence after mastectomy. Re-SLN biopsy was successful in 13 of 20 patients (65%) after previous mastectomy. Of the 13 patients, 2 had positive re-SLN, and completion axillary dissection was performed, with 1 having additional positive nodes. In the 11 patients with negative re-SLN, 2 patients underwent completion axillary dissection demonstrating additional negative nodes. One patient with a negative re-SLN experienced chest wall recurrence combined with axillary recurrence 11 months after re-SLN biopsy. All others remained free of local or axillary recurrence. Re-SLN biopsy was unsuccessful in 7 of 20 patients (35%). In three of seven patients, axillary dissection was performed, yielding positive nodes in two of the three. The remaining four of seven patients all had previous modified radical mastectomy, so underwent no additional axillary surgery. In this small series, re-SLN was successful after previous mastectomy, and this procedure may play some role when axillary staging is warranted after mastectomy.

  17. Cardiopulmonary resuscitation training of family members before hospital discharge using video self-instruction: a feasibility trial.

    Science.gov (United States)

    Blewer, Audrey L; Leary, Marion; Decker, Christopher S; Andersen, James C; Fredericks, Amanda C; Bobrow, Bentley J; Abella, Benjamin S

    2011-09-01

    Bystander cardiopulmonary resuscitation (CPR) is a crucial therapy for sudden cardiac arrest (SCA), yet rates of bystander CPR are low. This is especially the case for SCA occurring in the home setting, as family members of at-risk patients are often not CPR trained. To evaluate the feasibility of a novel hospital-based CPR education program targeted to family members of patients at increased risk for SCA. Prospective, multicenter, cohort study. Inpatient wards at 3 hospitals. Family members of inpatients admitted with cardiac-related diagnoses. Family members were offered CPR training via a proctored video-self instruction (VSI) program. After training, CPR skills and participant perspectives regarding their training experience were assessed. Surveys were conducted one month postdischarge to measure the rate of "secondary training" of other individuals by enrolled family members. At the 3 study sites, 756 subjects were offered CPR instruction; 280 agreed to training and 136 underwent instruction using the VSI program. Of these, 78 of 136 (57%) had no previous CPR training. After training, chest compression performance was generally adequate (mean compression rate 90 ± 26/minute, mean depth 37 ± 12 mm). At 1 month, 57 of 122 (47%) of subjects performed secondary training for friends or family members, with a calculated mean of 2.1 persons trained per kit distributed. The hospital setting offers a unique "point of capture" to provide CPR instruction to an important, undertrained population in contact with at-risk individuals. Copyright © 2010 Society of Hospital Medicine.

  18. Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

    Science.gov (United States)

    Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

    2017-07-01

    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

  19. Social communication difficulties and autism in previously institutionalized children.

    Science.gov (United States)

    Levin, April R; Fox, Nathan A; Zeanah, Charles H; Nelson, Charles A

    2015-02-01

    To determine the risk of difficulties with social communication and restricted/repetitive behaviors as well as the rate of autism in children institutionalized in early infancy and to assess the impact of a foster care intervention on ameliorating this risk. Children abandoned at birth and raised in institutions in Bucharest, Romania were randomly assigned to a care-as-usual group (institutional care, CAUG), or placed in family-centered foster care (FCG) as part of the Bucharest Early Intervention Project (BEIP). At approximately 10 years of age, the Social Communication Questionnaire (SCQ) was administered to caregivers of children in both groups as well as to parents of a typically developing community sample (Never-Institutionalized group [NIG]) residing in Bucharest, Romania. Children scoring ≥12 on the SCQ underwent clinical evaluation for autism spectrum disorder (ASD). Caregivers of children with a history of institutionalization reported that these children had significantly more deviant behavior than never-institutionalized children on all subdomains of the SCQ (all p communication. Three of 60 CAUG children, 2 of 57 FCG children, and none of the NIG children received a formal ASD diagnosis. Early institutional rearing was associated with an increased risk of social communication difficulties and ASD. A family-centered foster care intervention improved social communication skills. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  20. Family roles as family functioning regulators

    OpenAIRE

    STEPANYAN ARMINE

    2015-01-01

    The author examines the problems of formation and functioning of family roles. Having social roots, family roles appear on individual level by performing the social function of the formation of family as a social institute.

  1. Defining crisis in families of individuals with autism spectrum disorders

    OpenAIRE

    Weiss, Jonathan A; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health–related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children di...

  2. Family support programs and adolescent mental health: review of evidence

    OpenAIRE

    Laird, Robert; Kuhn,Emily

    2014-01-01

    Emily S Kuhn, Robert D Laird Department of Psychology, University of New Orleans, New Orleans, LA, USA Abstract: Family support programs aim to improve parent wellbeing and parenting as well as adolescent mental and behavioral health by addressing the needs of parents of adolescents experiencing or at risk for mental health problems. Family support programs can be part of the treatment for adolescents diagnosed with mental or behavioral health problems, or family support programs can be deli...

  3. Psychiatry Training in Canadian Family Medicine Residency Programs

    OpenAIRE

    Kates, Nick; Toews, John; Leichner, Pierre

    1985-01-01

    Family physicians may spend up to 50% of their time diagnosing and managing mental disorders and emotional problems, but this is not always reflected in the training they receive. This study of the teaching of psychiatry in the 16 family medicine residency programs in Canada showed that although the majority of program directors are reasonably satisfied with the current training, they see room for improvement—particularly in finding psychiatrists with a better understanding of family practice...

  4. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  5. Diagnosing Beijing 2020: Mapping the Ungovernable City

    Directory of Open Access Journals (Sweden)

    Robin Visser

    2014-07-01

    Full Text Available Beijing Municipality, characterised by the ‘off-ground’ architecture distinguishing neo-liberal privatisation, is attempting to mitigate the damaging effects of rampant development on the social fabric, cultural heritage, and the environment by adopting sustainable urban planning. I argue that the sustainability rhetoric in the Beijing Municipality 2020 Plans functions in part as strategic metaphors masking unnamed, imminent threats to governance. In this article I diagnose four Beijing plans (Beijing 2006-2015 ‘Rail Transit Plan’ for Compact City, Beijing 2005-2020 ‘Underground Space Plan’ for Alternative Space, Beijing 2006-2020 ‘Undeveloped Area Plan’ for Ecological Responsibility, and Beijing 2006-2010 ‘Low-income Housing Plan’ for Affordability and Liveability. A diagrammatics of the plans illuminates not so much a mapping of Beijing’s future as the forms of spontaneity preoccupying the nation at this historical juncture. The Beijing 2020 plan, as city mapping more generally, discloses the imminence of ungovernable city. The fact that citizens are demanding greater authority over Beijing governance suggests that radical alterations to its urban fabric and quality of life have incited the imminent sociability that is the city.

  6. Diagnosing Anomalous Network Performance with Confidence

    Energy Technology Data Exchange (ETDEWEB)

    Settlemyer, Bradley W [ORNL; Hodson, Stephen W [ORNL; Kuehn, Jeffery A [ORNL; Poole, Stephen W [ORNL

    2011-04-01

    Variability in network performance is a major obstacle in effectively analyzing the throughput of modern high performance computer systems. High performance interconnec- tion networks offer excellent best-case network latencies; how- ever, highly parallel applications running on parallel machines typically require consistently high levels of performance to adequately leverage the massive amounts of available computing power. Performance analysts have usually quantified network performance using traditional summary statistics that assume the observational data is sampled from a normal distribution. In our examinations of network performance, we have found this method of analysis often provides too little data to under- stand anomalous network performance. Our tool, Confidence, instead uses an empirically derived probability distribution to characterize network performance. In this paper we describe several instances where the Confidence toolkit allowed us to understand and diagnose network performance anomalies that we could not adequately explore with the simple summary statis- tics provided by traditional measurement tools. In particular, we examine a multi-modal performance scenario encountered with an Infiniband interconnection network and we explore the performance repeatability on the custom Cray SeaStar2 interconnection network after a set of software and driver updates.

  7. Audit of patients' awareness of ophthalmic diagnoses.

    Science.gov (United States)

    Sudesh, S; Downes, S M; McDonnell, P J

    1993-09-01

    Providing information to patients about their medical condition and treatment options is important in medical management. To assess patients' knowledge of their ocular disease, prognosis, and treatment a questionnaire based survey was performed. 219 patients selected by random systematic sampling during six months from patients attending general ophthalmic clinics in Selly Oak Hospital, Birmingham, were questioned and 217 questionnaires were analysed. The findings showed that patients' knowledge of their diagnosis depended on their condition: patients with common conditions such as glaucoma and cataract had a better understanding of their condition, its treatment, and prognosis compared with patients with rarer conditions such as retinal detachment or patients with multiple diagnoses. In all, 152 patients (70%) wanted more information about their condition; 49 (23%) did not (although 12 (25%) had attempted to obtain information); and 16 (7%) were undecided. In view of the few patients with a precise understanding of their ophthalmic diagnosis and prognosis and the majority's wish for access to further information, that access needs improvement and different modes of disseminating the information should be implemented.

  8. The Role of Family in Family Firms

    OpenAIRE

    Marianne Bertrand; Antoinette Schoar

    2006-01-01

    History is replete with examples of spectacular ascents of family businesses. Yet there are also numerous accounts of family businesses brought down by bitter feuds among family members, disappointed expectations between generations, and tragic sagas of later generations unable to manage their wealth. A large fraction of businesses throughout the world are organized around families. Why are family firms so prevalent? What are the implications of family control for the governance, financing an...

  9. Different Pathways to Juvenile Delinquency: Characteristics of Early and Late Starters in a Sample of Previously Incarcerated Youth

    Science.gov (United States)

    Alltucker, Kevin W.; Bullis, Michael; Close, Daniel; Yovanoff, Paul

    2006-01-01

    We examined the differences between early and late start juvenile delinquents in a sample of 531 previously incarcerated youth in Oregon's juvenile justice system. Data were analyzed with logistic regression to predict early start delinquency based on four explanatory variables: foster care experience, family criminality, special education…

  10. Revised age estimates of the Euphrosyne family

    Science.gov (United States)

    Carruba, Valerio; Masiero, Joseph R.; Cibulková, Helena; Aljbaae, Safwan; Espinoza Huaman, Mariela

    2015-08-01

    The Euphrosyne family, a high inclination asteroid family in the outer main belt, is considered one of the most peculiar groups of asteroids. It is characterized by the steepest size frequency distribution (SFD) among families in the main belt, and it is the only family crossed near its center by the ν6 secular resonance. Previous studies have shown that the steep size frequency distribution may be the result of the dynamical evolution of the family.In this work we further explore the unique dynamical configuration of the Euphrosyne family by refining the previous age values, considering the effects of changes in shapes of the asteroids during YORP cycle (``stochastic YORP''), the long-term effect of close encounters of family members with (31) Euphrosyne itself, and the effect that changing key parameters of the Yarkovsky force (such as density and thermal conductivity) has on the estimate of the family age obtained using Monte Carlo methods. Numerical simulations accounting for the interaction with the local web of secular and mean-motion resonances allow us to refine previous estimates of the family age. The cratering event that formed the Euphrosyne family most likely occurred between 560 and 1160 Myr ago, and no earlier than 1400 Myr ago when we allow for larger uncertainties in the key parameters of the Yarkovsky force.

  11. A structural model of family empowerment for families of children with special needs.

    Science.gov (United States)

    Han, Kuem Sun; Yang, Yunkyung; Hong, Yeong Seon

    2018-03-01

    To explain and predict family empowerment in families of children with special needs. Family empowerment of families of children with special needs can be explained using the Double ABCX model. Although constant stressors such as parenting stress and family demands can have negative effects on family empowerment, family resources and parenting efficacy can mediate the negative effect through effective coping strategies. A cross-sectional research design was employed. A survey was conducted with 240 parents of children with special needs. Upon exclusion of four responses deemed inadequate to the statistics process, 236 responses were selected for the analysis. Based on the items used in the previous research, we used the scale of family demands 38, the scale of parenting stress 24, the scale of parenting efficacy 37, the scale of pattern of organisation 30, the scale of communication process 16 and the scale of family empowerment 32. In families of children with special needs, parenting stress had a negative effect on parenting efficacy and family resources, namely, pattern of organisation and communication process. Family needs had a positive effect on parenting efficacy. Parenting stress and family demands influenced family empowerment through parenting efficacy and family resources (pattern of organisation and communication process), while parenting efficacy contributed to family empowerment. This study empirically analysed the usefulness of the Double ABCX model in predicting family empowerment. Family resource factors (organisation pattern and communication process) and perception or judgement factors (such as parenting efficacy) were found to mediate the negative impact of various stressors experienced by families of children with special needs. The study findings suggest that clinical practice and management should focus on providing efficient intervention methods to lower stress in families of children with special needs. Reinforcing factors contributing to

  12. [Fatal amnioinfusion with previous choriocarcinoma in a parturient woman].

    Science.gov (United States)

    Hrgović, Z; Bukovic, D; Mrcela, M; Hrgović, I; Siebzehnrübl, E; Karelovic, D

    2004-04-01

    The case of 36-year-old tercipare is described who developed choriocharcinoma in a previous pregnancy. During the first term labour the patient developed cardiac arrest, so reanimation and sectio cesarea was performed. A male new-born was delivered in good condition, but even after intensive therapy and reanimation occurred death of parturient woman with picture of disseminate intravascular coagulopathia (DIK). On autopsy and on histology there was no sign of malignant disease, so it was not possible to connect previous choricarcinoma with amniotic fluid embolism. Maybe was place of choriocarcinoma "locus minoris resistentiae" which later resulted with failure in placentation what was hard to prove. On autopsy we found embolia of lung with a microthrombosis of terminal circulation with punctiformis bleeding in mucous, what stands for DIK.

  13. Challenging previous conceptions of vegetarianism and eating disorders.

    Science.gov (United States)

    Fisak, B; Peterson, R D; Tantleff-Dunn, S; Molnar, J M

    2006-12-01

    The purpose of this study was to replicate and expand upon previous research that has examined the potential association between vegetarianism and disordered eating. Limitations of previous research studies are addressed, including possible low reliability of measures of eating pathology within vegetarian samples, use of only a few dietary restraint measures, and a paucity of research examining potential differences in body image and food choice motives of vegetarians versus nonvegetarians. Two hundred and fifty-six college students completed a number of measures of eating pathology and body image, and a food choice motives questionnaire. Interestingly, no significant differences were found between vegetarians and nonvegetarians in measures of eating pathology or body image. However, significant differences in food choice motives were found. Implications for both researchers and clinicians are discussed.

  14. Previously unreported abnormalities in Wolfram Syndrome Type 2.

    Science.gov (United States)

    Akturk, Halis Kaan; Yasa, Seda

    2017-01-01

    Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. © Polish Society for Pediatric Endocrinology and Diabetology.

  15. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

    Directory of Open Access Journals (Sweden)

    Barnum R

    2014-04-01

    Full Text Available Richard BarnumPrivate practice, Child and adolescent psychiatry, MA, USAAbstract: Conversion Disorder (CD is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care.Keywords: somatoform disorders, dysautonomias, pain, collagen diseases, mitochondrial diseases, complex regional pain syndromes

  16. Hope, emotion regulation, and psychosocial well-being in patients newly diagnosed with cancer.

    Science.gov (United States)

    Peh, Chao Xu; Kua, Ee Heok; Mahendran, Rathi

    2016-05-01

    Patients newly diagnosed with cancer are often confronted with feelings of uncertainty and life threat. A significant proportion may report impairments in psychosocial well-being. Previous studies examining protective psychological factors such as hope and emotion regulation (ER) have yet to investigate these processes concurrently within a common self-regulation framework and/or focus on newly diagnosed patients. The present study aimed to examine how hope and ER may relate to psychosocial outcomes of patients newly diagnosed with cancer. The present study used a cross-sectional design with self-report questionnaires. Participants were newly diagnosed patients (N = 101) recruited from three cancer therapy clinics in a hospital. Patients completed measures of hope, ER (cognitive reappraisal and expressive suppression), and psychosocial well-being (life satisfaction and negative affectivity). Findings showed that (1) hope and reappraisal, but not suppression, were associated with well-being and (2) the interaction between hope and reappraisal was associated with well-being; reappraisal was not associated with well-being in high hope patients, while high reappraisal was associated with better well-being in low hope patients. Individual differences in hope and reappraisal appeared to be associated with psychosocial outcomes in newly diagnosed cancer patients. Hopeful thinking appeared to benefit patients' psychosocial well-being. In addition, an interaction effect between hope and reappraisal suggested that reappraisal as an ER strategy may be particularly adaptive for patients with low hope.

  17. Previous climatic alterations are caused by the sun

    International Nuclear Information System (INIS)

    Groenaas, Sigbjoern

    2003-01-01

    The article surveys the scientific results of previous research into the contribution of the sun to climatic alterations. The author concludes that there is evidence of eight cold periods after the last ice age and that the alterations largely were due to climate effects from the sun. However, these effects are only causing a fraction of the registered global warming. It is assumed that the human activities are contributing to the rest of the greenhouse effect

  18. Influence of previous knowledge in Torrance tests of creative thinking

    OpenAIRE

    Aranguren, María; Consejo Nacional de Investigaciones Científicas y Técnicas CONICET

    2015-01-01

    The aim of this work is to analyze the influence of study field, expertise and recreational activities participation in Torrance Tests of Creative Thinking (TTCT, 1974) performance. Several hypotheses were postulated to explore the possible effects of previous knowledge in TTCT verbal and TTCT figural university students’ outcomes. Participants in this study included 418 students from five study fields: Psychology;Philosophy and Literature, Music; Engineering; and Journalism and Advertisin...

  19. Analysis of previous screening examinations for patients with breast cancer

    International Nuclear Information System (INIS)

    Lee, Eun Hye; Cha, Joo Hee; Han, Dae Hee; Choi, Young Ho; Hwang, Ki Tae; Ryu, Dae Sik; Kwak, Jin Ho; Moon, Woo Kyung

    2007-01-01

    We wanted to improve the quality of subsequent screening by reviewing the previous screening of breast cancer patients. Twenty-four breast cancer patients who underwent previous screening were enrolled. All 24 took mammograms and 15 patients also took sonograms. We reviewed the screening retrospectively according to the BI-RADS criteria and we categorized the results into false negative, true negative, true positive and occult cancers. We also categorized the causes of false negative cancers into misperception, misinterpretation and technical factors and then we analyzed the attributing factors. Review of the previous screening revealed 66.7% (16/24) false negative, 25.0% (6/24) true negative, and 8.3% (2/24) true positive cancers. False negative cancers were caused by the mammogram in 56.3% (9/16) and by the sonogram in 43.7% (7/16). For the false negative cases, all of misperception were related with mammograms and this was attributed to dense breast, a lesion located at the edge of glandular tissue or the image, and findings seen on one view only. Almost all misinterpretations were related with sonograms and attributed to loose application of the final assessment. To improve the quality of breast screening, it is essential to overcome the main causes of false negative examinations, including misperception and misinterpretation. We need systematic education and strict application of final assessment categories of BI-RADS. For effective communication among physicians, it is also necessary to properly educate them about BI-RADS

  20. Investigation of previously implicated genetic variants in chronic tic disorders

    DEFF Research Database (Denmark)

    Abdulkadir, Mohamed; Londono, Douglas; Gordon, Derek

    2017-01-01

    with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were......Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412...... families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results...

  1. How we diagnose and treat neutropenia in adults.

    Science.gov (United States)

    Palmblad, Jan; Nilsson, Christer C; Höglund, Petter; Papadaki, Helen A

    2016-05-01

    Neutropenias (NPs), being acute and often transient, or chronic, range from life-threatening conditions with very low absolute neutrophil blood counts (ANC) to disorders characterized by only mild NP and of no obvious significance for health. Many are caused by genetic variations/mutations, e.g. the benign familial NP and the chronic severe NPs (e.g. Kostmann disease). Some of the latter are associated with various bodily malformations. Many of the mild-to-moderate NPs are signs of underlying disorders that need specialized treatments (e.g. HIV, hepatitis, autoimmune disorders, the large granular lymphocyte syndrome). We provide here means for the evaluation of a previously unknown NP, suggest a triage and treatments.

  2. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population

    Science.gov (United States)

    Millá, Elena; Mañé, Begoña; Duch, Susana; Hernan, Imma; Borràs, Emma; Planas, Ester; Dias, Miguel de Sousa; Carballo, Miguel

    2013-01-01

    Purpose To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). Methods Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was performed in 207 index patients: 96 with adult-onset primary open-angle glaucoma (POAG), 21 with primary congenital glaucoma (PCG), 18 with juvenile-onset open-angle glaucoma (JOAG), five with Axenfeld-Rieger syndrome (ARS), and 67 with other types of glaucoma. One hundred two of the families (including all those in whom a MYOC mutation was detected) were also screened for CYP1B1 mutations: 45 POAG, 25 PCG, 21 JOAG, four ARS, and seven others. Results We examined 292 individuals (patients and relatives) with a positive family history of glaucoma or OHT. We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one). CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two). Conclusions The high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing. However, the percentage of mutations (9/207=4.4%) in MYOC associated with glaucoma is relatively low in our population. The variable phenotype expression of glaucoma, even in families, cannot be explained with a digenic mechanism between MYOC and CYP1B1. PMID:23922489

  3. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    female-headed families than for married-couple families. The comped families than for married-couple families. The composition of children's families and the time parents have for their children affect child rearing. Consequent to the increase in female-headed households, rising economic and personal need, and increased opportunities for women, the proportion of mothers who are in the workforce has climbed steadily over the past several decades. Currently, approximately two thirds of all mothers with children younger than 18 years are employed. Most families with young children depend on child care, and most child care is not of good quality. Reliance on child care involves longer days for children and families, the stress imposed by schedules and created by transitions, exposure to infections, and considerable cost. An increasing number and proportion of parents are also devoting time previously available to their children to the care of their own parents. The so-called "sandwich generation" of parents is being pulled in multiple directions. The amount and use of family time also has changed with a lengthening workday, including the amount of commuting time necessary to travel between work and home, and with the intrusion of television and computers into family life. In public opinion polls, most parents report that they believe it is more difficult to be a parent now than it used to be; people seem to feel more isolated, social and media pressures on and enticements of their children seem greater, and the world seems to be a more dangerous place. Social and public policy has not kept up with these changes, leaving families stretched for time and stressed to cope and meet their responsibilities. What can and what should pediatrics do to help families raise healthy and well-adjusted children? How can individual pediatricians better support families? FAMILY PEDIATRICS: The American Academy of Pediatrics (AAP) Board of Directors appointed the Task Force on the Family to

  4. Diagnosis of Child Maltreatment: A Family Medicine Physician's Dilemma.

    Science.gov (United States)

    Eniola, Kehinde; Evarts, Lori

    2017-05-01

    Cases of child maltreatment (CM) in the United States remain high, and primary care providers lack the confidence and training to diagnose these cases. This study provides recommendations to improve family medicine physicians' confidence in diagnosing CM. We e-mailed an electronic survey to family medicine residents and physicians practicing in the United States. Responses were collected during August and September 2015. Respondents were asked about their familiarity and competence level regarding the diagnosis of CM. They also were asked about the frequency of their correctly diagnosing CM, timeliness of diagnosis, barriers to a diagnosis or early diagnosis of CM, and receipt of adequate CM training. Of the 420 surveys emailed, 258 (61%) were completed. The majority of respondents stated their self-reported level of competence in diagnosing CM as average or below average, with few (8%) indicating a competence level of above average. A timely diagnosis of child maltreatment was reported by 46% of respondents, whereas 54% were either late (19.2%) in diagnosing or could not recall (34.6%). The barriers to diagnosis cited by responders were inexperience (58%), lack of confidence and certainty (50%), lack of diagnosis protocol (43.3%), lack of confidence in communicating with parents (38.3%), and inadequate training (34.9%). The introduction of CM training into the family medicine residency training curriculum, coupled with the development of a standardized CM diagnosis protocol, may improve self-reported family medicine physicians' confidence and competence levels in diagnosing CM.

  5. Homicide and domestic violence. Are there different psychological profiles mediated by previous exerted on the victim?

    Directory of Open Access Journals (Sweden)

    Montserrat Yepes

    2009-07-01

    Full Text Available A sample of 46 men was evaluated with the DAPP (Questionnaire of Domestic Aggressor Psychological Profile. All were inmates convicted for various degrees of violence against their wives in different prisons. The sample was divided into three groups: homicides without previous violence against their wives (H (n=11, homicides with previous violence (VH (n=9 and domestic batterers without previous homicide attempts against their partners (B (n=26. The aim of the study was to analyze the possible existence of three different kinds of profiles and more specifically if it’s possible to obtain an independent profile for domestic homicides with previous episodes of violence against their wives. The results neither confirm the hypothesis as whole nor for the violent homicides. However, differences between groups were obtained in the admission and description of the facts, in the risk of future violence, in some sociodemographical characteristics (i.e., level of education, social status, in the couple relationship, in the dissatisfaction concerning the unachieved ideal woman, in the use of extreme physical force during the aggression, the time of the first aggression, the use of verbal threats during the aggression, explanation of the events to the family and the period of time between the beginning of the romantic relationship and the manifestation of violence. The implications of the results for the theoretical frameworks proposed and future research are discussed.

  6. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, H. F.; Wijnen, J. T.; Menko, F. H.; Kleibeuker, J. H.; Taal, B. G.; Griffioen, G.; Nagengast, F. M.; Meijers-Heijboer, E. H.; Bertario, L.; Varesco, L.; Bisgaard, M. L.; Mohr, J.; Fodde, R.; Khan, P. M.

    1996-01-01

    Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of carriers within

  7. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, HFA; Wijnen, JT; Menko, FH; Kleibeuker, JH; Taal, BG; Griffioen, G; Nagengast, FM; MeijersHeijboer, EH; Bertario, L; Varesco, L; Bisgaard, ML; Mohr, J; Fodde, R; Khan, PM

    Background & Aims: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers, The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of

  8. Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2011-12-01

    Full Text Available Abstract Background Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. Findings/results We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. Conclusions We suggest that a CNV at 18p11.32 (528,050-2,337,486 may represent a new benign euchromatic variant.

  9. 100 Day Kit for Newly Diagnosed Families of School Age Children

    Science.gov (United States)

    ... things. Some excel at building things or at math. Also explain that many children with autism have ... a new category called Social Communication Disorder (SCD). Discrete Trial Training (DTT) is a technique incorporating principles ...

  10. Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families.

    Science.gov (United States)

    Pondman, Kirsten M; Brinkman, Jacoline W; van der Straaten, Hanneke M; Stroobants, An K; Harteveld, Cornelis L

    2018-01-01

    We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.

  11. Retrospective analysis on malignant calcification previously misdiagnosed as benign on screening mammography

    International Nuclear Information System (INIS)

    Ha, Su Min; Cha, Joo Hee; Kim, Hak Hee; Shin, Hee Jung; Chae, Eun Young; Choi, Woo Jung

    2017-01-01

    The purpose of our study was to investigate the morphology and distribution of calcifications initially interpreted as benign or probably benign, but proven to be malignant by subsequent stereotactic biopsy, and to identify the reason for misinterpretation or underestimation at the initial diagnosis. Out of 567 women who underwent stereotactic biopsy for calcifications at our hospital between January 2012 and December 2014, 167 women were diagnosed with malignancy. Forty-six of these 167 women had previous mammography assessed as benign or probably benign which was changed to suspicious malignancy on follow-up mammography. Of these 46 women, three women with biopsy-proven benign calcifications at the site of subsequent cancer were excluded, and 43 patients were finally included. The calcifications (morphology, distribution, extent, associated findings) in the previous and follow-up mammography examinations were analyzed according to the Breast Imaging Reporting and Data System (BI-RADS) lexicon and assessment category. We classified the patients into two groups: 1) group A patients who were still retrospectively re-categorized as less than or equal to BI-RADS 3 and 2) group B patients who were re-categorized as equal to or higher than BI-RADS 4a and whose results should have prompted previous diagnostic assessment. In the follow-up mammography examinations, change in calcification morphology (n = 27, 63%) was the most frequent cause of assessment change. The most frequent previous mammographic findings of malignant calcification were amorphous morphology (n = 26, 60%) and grouped distribution (n = 36, 84%). The most frequent calcification findings at reassessment were amorphous morphology (n = 4, 9%), fine pleomorphic calcification (n = 30, 70%), grouped distribution (n = 23, 53%), and segmental calcification (n = 12, 28%). There were 33 (77%) patients in group A, and 10 patients (23%) in group B. Amorphous morphology and grouped distribution were the most frequent

  12. Retrospective analysis on malignant calcification previously misdiagnosed as benign on screening mammography

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Su Min [Dept. of Radiology, Research Institute of Radiology, Chung Ang University Hospital, Seoul(Korea, Republic of); Cha, Joo Hee; Kim, Hak Hee; Shin, Hee Jung; Chae, Eun Young; Choi, Woo Jung [Dept. of Radiology, Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    The purpose of our study was to investigate the morphology and distribution of calcifications initially interpreted as benign or probably benign, but proven to be malignant by subsequent stereotactic biopsy, and to identify the reason for misinterpretation or underestimation at the initial diagnosis. Out of 567 women who underwent stereotactic biopsy for calcifications at our hospital between January 2012 and December 2014, 167 women were diagnosed with malignancy. Forty-six of these 167 women had previous mammography assessed as benign or probably benign which was changed to suspicious malignancy on follow-up mammography. Of these 46 women, three women with biopsy-proven benign calcifications at the site of subsequent cancer were excluded, and 43 patients were finally included. The calcifications (morphology, distribution, extent, associated findings) in the previous and follow-up mammography examinations were analyzed according to the Breast Imaging Reporting and Data System (BI-RADS) lexicon and assessment category. We classified the patients into two groups: 1) group A patients who were still retrospectively re-categorized as less than or equal to BI-RADS 3 and 2) group B patients who were re-categorized as equal to or higher than BI-RADS 4a and whose results should have prompted previous diagnostic assessment. In the follow-up mammography examinations, change in calcification morphology (n = 27, 63%) was the most frequent cause of assessment change. The most frequent previous mammographic findings of malignant calcification were amorphous morphology (n = 26, 60%) and grouped distribution (n = 36, 84%). The most frequent calcification findings at reassessment were amorphous morphology (n = 4, 9%), fine pleomorphic calcification (n = 30, 70%), grouped distribution (n = 23, 53%), and segmental calcification (n = 12, 28%). There were 33 (77%) patients in group A, and 10 patients (23%) in group B. Amorphous morphology and grouped distribution were the most frequent

  13. [MANAGEMENT OF PLACENTA ACCRETA, DIAGNOSED BEFORE BIRTH].

    Science.gov (United States)

    Dimitrov, A; Garnizov, T; Frundeva, B; Masseva, A; Zlatkov, V

    2015-01-01

    The optimal management of placenta accreta and until now remains unclear. The reasons for this are a rarity of this condition and the considerable heterogeneity of the group under the term "placenta accreta." Total hysterectomy during caesarean section is the most common approach to a known placenta accreta. Planned or emergency perinatal hysterectomy is associated with several complications--damage to the urinary tract, relaparotomiya, massive blood transfusions and stay in ICU. The average blood loss is about 3000 ml. To reduce blood loss in perinatal hysterectomy contribute: preliminary uterine artery occlusion, istmus-coporal longitudinal hysterectomy for extraction of the fetus, placental extraction along with the uterus. To save the woman's uterus at placenta accreta are using the following methods: cutting the uterine wall on which is located the placenta, imposing single stitches covering 2-3 cm in 1 cm, around the placental area; removal of the maximum possible part of the placenta; using longitudinal hysterectomy. So far, there are no comparative studies of the efficacy of different surgical techniques to preserve the uterus cases of placenta accreta. Extraction of the placenta to be done after the administration of uterotonics and devascularization the uterus. To reduce bleeding from the uterus after removal of parts of the placenta and according to the situation can be used: x-back hemostatic sutures from internal side of the uterus, tamponade with gauze roll, balloon catheters or haemostatic mushrooms. Conservative surgical treatment of placenta accreta is not always possible. In hospital Maternity Hospital-Sofia for the period 1986-2000 there were 17 cases of placenta accreta diagnosed only at birth. Maintaining the uterus was successful in 35% of these cases.

  14. Top Information Need Priorities of Older Adults Newly Diagnosed With Active Myeloma.

    Science.gov (United States)

    Tariman, Joseph D; Doorenbos, Ardith; Schepp, Karen G; Singhal, Seema; Berry, Donna L

    2015-01-01

    Prioritizing patients' information needs maximizes efficiency. This study examined the information sources and priorities in a sample of older adults newly diagnosed with symptomatic myeloma requiring immediate therapy. An association analysis of whether information needs were influenced by sociodemographic variables such as age, gender, education, marital status, and income was also conducted. The Information Needs Questionnaire (INQ) and an investigator-developed interview schedule were administered to 20 older adults diagnosed with symptomatic myeloma during a 30- to 45-minute semistructured interview. We found that older adults newly diagnosed with symptomatic myeloma have different priorities of information needs when compared with younger patients diagnosed with various types of cancer. The top three priorities related to treatment, prognosis, and self-care. Sociodemographic variables did not influence the priorities of information needs among older adults with symptomatic myeloma. The Internet, physicians, family, and friends were among the top sources of information. Advanced practitioners in oncology should support and identify interventions that can enhance patients' learning process from these sources. Well poised to assist patients in searching credible and reliable Internet sources, advanced practitioners in oncology can provide patient education about different treatments and the impact of such treatments on prognosis (e.g., overall survival and likelihood of cure).

  15. The familial risk of autism.

    Science.gov (United States)

    Sandin, Sven; Lichtenstein, Paul; Kuja-Halkola, Ralf; Larsson, Henrik; Hultman, Christina M; Reichenberg, Abraham

    2014-05-07

    Autism spectrum disorder (ASD) aggregates in families, but the individual risk and to what extent this is caused by genetic factors or shared or nonshared environmental factors remains unresolved. To provide estimates of familial aggregation and heritability of ASD. A population-based cohort including 2,049,973 Swedish children born 1982 through 2006. We identified 37,570 twin pairs, 2,642,064 full sibling pairs, 432,281 maternal and 445,531 paternal half sibling pairs, and 5,799,875 cousin pairs. Diagnoses of ASD to December 31, 2009 were ascertained. The relative recurrence risk (RRR) measures familial aggregation of disease. The RRR is the relative risk of autism in a participant with a sibling or cousin who has the diagnosis (exposed) compared with the risk in a participant with no diagnosed family member (unexposed). We calculated RRR for both ASD and autistic disorder adjusting for age, birth year, sex, parental psychiatric history, and parental age. We estimated how much of the probability of developing ASD can be related to genetic (additive and dominant) and environmental (shared and nonshared) factors. In the sample, 14,516 children were diagnosed with ASD, of whom 5689 had autistic disorder. The RRR and rate per 100,000 person-years for ASD among monozygotic twins was estimated to be 153.0 (95% CI, 56.7-412.8; rate, 6274 for exposed vs 27 for unexposed ); for dizygotic twins, 8.2 (95% CI, 3.7-18.1; rate, 805 for exposed vs 55 for unexposed); for full siblings, 10.3 (95% CI, 9.4-11.3; rate, 829 for exposed vs 49 for unexposed); for maternal half siblings, 3.3 (95% CI, 2.6-4.2; rate, 492 for exposed vs 94 for unexposed); for paternal half siblings, 2.9 (95% CI, 2.2-3.7; rate, 371 for exposed vs 85 for unexposed); and for cousins, 2.0 (95% CI, 1.8-2.2; rate, 155 for exposed vs 49 for unexposed). The RRR pattern was similar for autistic disorder but of slightly higher magnitude.We found support for a disease etiology including only additive genetic and

  16. Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families

    International Nuclear Information System (INIS)

    Eerola, Hannaleena; Heikkilä, Päivi; Tamminen, Anitta; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli

    2005-01-01

    Histopathological features of BRCA1 and BRCA2 tumours have previously been characterised and compared with unselected breast tumours; however, familial non-BRCA1/2 tumours are less well known. The aim of this study was to characterise familial non-BRCA1/2 tumours and to evaluate routine immunohistochemical and pathological markers that could help us to further distinguish families carrying BRCA1/2 mutations from other breast cancer families. Breast cancer tissue specimens (n = 262) from 25 BRCA1, 20 BRCA2 and 74 non-BRCA1/2 families were studied on a tumour tissue microarray. Immunohistochemical staining of oestrogen receptor (ER), progesterone receptor (PgR) and p53 as well as the histology and grade of these three groups were compared with each other and with the respective information on 862 unselected control patients from the archives of the Pathology Department of Helsinki University Central Hospital. Immunohistochemical staining of erbB2 was also performed among familial cases. BRCA1-associated cancers were diagnosed younger and were more ER-negative and PgR-negative, p53-positive and of higher grade than the other tumours. However, in multivariate analysis the independent factors compared with non-BRCA1/2 tumours were age, grade and PgR negativity. BRCA2 cases did not have such distinctive features compared with non-BRCA1/2 tumours or with unselected control tumours. Familial cases without BRCA1/2 mutations had tumours of lower grade than the other groups. BRCA1 families differed from mutation-negative families by age, grade and PgR status, whereas ER status was not an independent marker

  17. Psychiatric family history and schizophrenia risk in Denmark: which mental disorders are relevant?

    Science.gov (United States)

    Mortensen, P B; Pedersen, M G; Pedersen, C B

    2010-02-01

    A family history of schizophrenia is the strongest single indicator of individual schizophrenia risk. Bipolar affective disorder and schizo-affective disorders have been documented to occur more frequently in parents and siblings of schizophrenia patients, but the familial occurrence of the broader range of mental illnesses and their role as confounders have not been studied in large population-based samples. All people born in Denmark between 1955 and 1991 (1.74 million) were followed for the development of schizophrenia (9324 cases) during 28 million person-years at risk. Information of schizophrenia in cohort members and psychiatric history in parents and siblings was established through linkage with the Danish Psychiatric Central Register. Data were analysed using log-linear Poisson regression. Schizophrenia was, as expected, strongly associated with schizophrenia and related disorders among first-degree relatives. However, almost any other psychiatric disorder among first-degree relatives increased the individual's risk of schizophrenia. The population attributable risk associated with psychiatric family history in general was 27.1% whereas family histories including schizophrenia only accounted for 6.0%. The general psychiatric family history was a confounder of the association between schizophrenia and urbanization of place of birth. Clinically diagnosed schizophrenia is associated with a much broader range of mental disorders in first-degree relatives than previously reported. This may suggest risk haplotypes shared across many disorders and/or shared environmental factors clustering in families. Failure to take the broad range of psychiatric family history into account may bias results of all risk-factor studies of schizophrenia.

  18. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  19. Association of a Family History of Atrial Fibrillation With Incidence and Outcomes of Atrial Fibrillation: A Population-Based Family Cohort Study.

    Science.gov (United States)

    Chang, Shang-Hung; Kuo, Chang-Fu; Chou, I-Jun; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Huang, Lu-Hsiang; Zhang, Weiya; Doherty, Michael; Wen, Ming-Shien; Kuo, Chi-Tai; Yeh, Yung-Hsin

    2017-08-01

    The heritability of atrial fibrillation (AF), the contribution of genetic and environmental factors, and the association of a family history of AF with prognosis are unclear. To measure genetic and environmental factors in the familial aggregation of AF and to estimate the association of a family history of AF with major adverse cardiovascular events (MACE). In this Taiwanese nationwide population-based study among more than 23 million people, a custom data set was obtained using the data of all patients having a diagnosis of AF recorded between January 1996 and December 2013 in the Taiwan National Health Insurance Research Database. The study population comprised all 23 422 955 individuals registered with the database in 2013, of whom 177 770 had a diagnosis of AF and were included in the heritability estimation. From the latter, a subgroup of patients having newly diagnosed AF with a first-degree relative affected by AF between 2000 and 2010 were selected and matched 1:4 to controls without a family history for estimating MACE-free survival. The dates of analysis were January 2010 to December 2013. The prevalence and relative risk of AF in relatives of patients with AF, as well as the relative contributions of heritability and shared and nonshared environmental factors to AF susceptibility. Also measured was MACE-free survival after AF was diagnosed. In total, 1510 patients (204 [13.5%] female; mean [SD] age, 57.9 [9.2] years) had newly diagnosed AF with a first-degree relative affected by AF. Individuals with a first-degree relative affected by AF had a relative risk of 1.92 (95% CI, 1.84-1.99) for AF. The accountability for the phenotypic variance of AF was 19.9% for genetic factors (heritability), 3.5% for shared environmental factors, and 76.6% for nonshared environmental factors. After matching for age, sex, hypertension, type 2 diabetes, previous stroke, and anticoagulation, incident AF patients with vs without an affected first-degree relative had

  20. Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.

    Science.gov (United States)

    Brown, Amy; Crowe, Louise; Beauchamp, Miriam H; Anderson, Vicki; Boneh, Avihu

    2015-01-01

    Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

  1. MCNP HPGe detector benchmark with previously validated Cyltran model.

    Science.gov (United States)

    Hau, I D; Russ, W R; Bronson, F

    2009-05-01

    An exact copy of the detector model generated for Cyltran was reproduced as an MCNP input file and the detection efficiency was calculated similarly with the methodology used in previous experimental measurements and simulation of a 280 cm(3) HPGe detector. Below 1000 keV the MCNP data correlated to the Cyltran results within 0.5% while above this energy the difference between MCNP and Cyltran increased to about 6% at 4800 keV, depending on the electron cut-off energy.

  2. HEART TRANSPLANTATION IN PATIENTS WITH PREVIOUS OPEN HEART SURGERY

    Directory of Open Access Journals (Sweden)

    R. Sh. Saitgareev

    2016-01-01

    Full Text Available Heart Transplantation (HTx to date remains the most effective and radical method of treatment of patients with end-stage heart failure. The defi cit of donor hearts is forcing to resort increasingly to the use of different longterm mechanical circulatory support systems, including as a «bridge» to the follow-up HTx. According to the ISHLT Registry the number of recipients underwent cardiopulmonary bypass surgery increased from 40% in the period from 2004 to 2008 to 49.6% for the period from 2009 to 2015. HTx performed in repeated patients, on the one hand, involves considerable technical diffi culties and high risks; on the other hand, there is often no alternative medical intervention to HTx, and if not dictated by absolute contradictions the denial of the surgery is equivalent to 100% mortality. This review summarizes the results of a number of published studies aimed at understanding the immediate and late results of HTx in patients, previously underwent open heart surgery. The effect of resternotomy during HTx and that of the specifi c features associated with its implementation in recipients previously operated on open heart, and its effects on the immediate and long-term survival were considered in this review. Results of studies analyzing the risk factors for perioperative complications in repeated recipients were also demonstrated. Separately, HTx risks after implantation of prolonged mechanical circulatory support systems were examined. The literature does not allow to clearly defi ning the impact factor of earlier performed open heart surgery on the course of perioperative period and on the prognosis of survival in recipients who underwent HTx. On the other hand, subject to the regular fl ow of HTx and the perioperative period the risks in this clinical situation are justifi ed as a long-term prognosis of recipients previously conducted open heart surgery and are comparable to those of patients who underwent primary HTx. Studies

  3. Bounding CKM mixing with a fourth family

    International Nuclear Information System (INIS)

    Chanowitz, Michael S.

    2009-01-01

    CKM mixing between third-family quarks and a possible fourth family is constrained by global fits to the precision electroweak data. The dominant constraint is from nondecoupling oblique corrections rather than the vertex correction to Z→bb used in previous analyses. The possibility of large mixing suggested by some recent analyses of flavor-changing neutral-current processes is excluded, but 3-4 mixing of the same order as the Cabbibo mixing of the first two families is allowed.

  4. Methylphenidate improves motor functions in children diagnosed with Hyperkinetic Disorder

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    Iversen Synnøve

    2009-05-01

    Full Text Available Abstract Background A previous study showed that a high percentage of children diagnosed with Hyperkinetic Disorder (HKD displayed a consistent pattern of motor function problems. The purpose of this study was to investigate the effect of methylphenidate (MPH on such motor performance in children with HKD Methods 25 drug-naïve boys, aged 8–12 yr with a HKD-F90.0 diagnosis, were randomly assigned into two groups within a double blind cross-over design, and tested with a motor assessment instrument, during MPH and placebo conditions. Results The percentage of MFNU scores in the sample indicating 'severe motor problems' ranged from 44–84%, typically over 60%. Highly significant improvements in motor performance were observed with MPH compared to baseline ratings on all the 17 subtests of the MFNU 1–2 hr after administration of MPH. There were no significant placebo effects. The motor improvement was consistent with improvement of clinical symptoms. Conclusion The study confirmed our prior clinical observations showing that children with ADHD typically demonstrate marked improvements of motor functions after a single dose of 10 mg MPH. The most pronounced positive MPH response was seen in subtests measuring either neuromotor inhibition, or heightened muscular tone in the gross movement muscles involved in maintaining the alignment and balance of the body. Introduction of MPH generally led to improved balance and a generally more coordinated and controlled body movement.

  5. Improving the Specificity of EEG for Diagnosing Alzheimer's Disease

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    François-B. Vialatte

    2011-01-01

    Full Text Available Objective. EEG has great potential as a cost-effective screening tool for Alzheimer's disease (AD. However, the specificity of EEG is not yet sufficient to be used in clinical practice. In an earlier study, we presented preliminary results suggesting improved specificity of EEG to early stages of Alzheimer's disease. The key to this improvement is a new method for extracting sparse oscillatory events from EEG signals in the time-frequency domain. Here we provide a more detailed analysis, demonstrating improved EEG specificity for clinical screening of MCI (mild cognitive impairment patients. Methods. EEG data was recorded of MCI patients and age-matched control subjects, in rest condition with eyes closed. EEG frequency bands of interest were θ (3.5–7.5 Hz, α1 (7.5–9.5 Hz, α2 (9.5–12.5 Hz, and β (12.5–25 Hz. The EEG signals were transformed in the time-frequency domain using complex Morlet wavelets; the resulting time-frequency maps are represented by sparse bump models. Results. Enhanced EEG power in the θ range is more easily detected through sparse bump modeling; this phenomenon explains the improved EEG specificity obtained in our previous studies. Conclusions. Sparse bump modeling yields informative features in EEG signal. These features increase the specificity of EEG for diagnosing AD.

  6. Accessible Support for Family Caregivers of Seniors with Chronic Conditions: From Isolation to Inclusion

    Science.gov (United States)

    Stewart, Miriam; Barnfather, Alison; Neufeld, Anne; Warren, Sharon; Letourneau, Nicole; Liu, Lili

    2006-01-01

    Accessible support programs can improve health outcomes for family caregivers of older relatives with a chronic condition. Over the course of 6 months, 27 experienced family caregivers provided weekly support via the telephone to 66 individuals, either new family caregivers of seniors recently diagnosed with stroke or newly vulnerable family…

  7. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  8. Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

    OpenAIRE

    Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt

    2014-01-01

    BACKGROUND: The value of family history as a risk factor for kidney failure has not been determined in a nationwide setting. AIM: This nationwide family study aimed to determine familial risks for kidney failure in Sweden. METHODS: The Swedish multi-generation register on 0-78-year-old subjects were linked to the Swedish patient register and the Cause of death register for 1987-2010. Individuals diagnosed with acute kidney failure (n = 10063), chronic kidney failure (n = 18668), or unspecifie...

  9. Health-related quality of life of children with newly diagnosed specific learning disability.

    Science.gov (United States)

    Karande, Sunil; Bhosrekar, Kirankumar; Kulkarni, Madhuri; Thakker, Arpita

    2009-06-01

    The objective of this study was to measure health-related quality of life (HRQL) of children with newly diagnosed specific learning disability (SpLD) using the Child Health Questionnaire-Parent Form 50. We detected clinically significant deficits (effect size > or = -0.5) in 9 out of 12 domains: limitations in family activities, emotional impact on parents, social limitations as a result of emotional-behavioral problems, time impact on parents, general behavior, physical functioning, social limitations as a result of physical health, general health perceptions and mental health; and in both summary scores (psychosocial > physical). Multivariate analysis revealed having > or = 1 non-academic problem(s) (p or =1 non-academic problem(s) (p = 0.006) or first-born status (p = 0.035) predicted a poor physical summary score. HRQL is significantly compromised in children having newly diagnosed SpLD.

  10. Previous medical history of diseases in children with attention deficit hyperactivity disorder and their parents

    Directory of Open Access Journals (Sweden)

    Ayyoub Malek

    2014-02-01

    Full Text Available Introduction: The etiology of Attention deficit hyperactivity disorder (ADHD is complex and most likely includes genetic and environmental factors. This study was conducted to evaluatethe role of previous medical history of diseases in ADHD children and their parents during theearlier years of the ADHD children's lives. Methods: In this case-control study, 164 ADHD children attending to Child and AdolescentPsychiatric Clinics of Tabriz University of Medical Sciences, Iran, compared with 166 normal children selected in a random-cluster method from primary and guidance schools. ADHDrating scale (Parents version and clinical interview based on schedule for Schedule forAffective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version(K-SADS were used to diagnose ADHD cases and to select the control group. Two groupswere compared for the existence of previous medical history of diseases in children andparents. Fisher's exact test and logistic regression model were used for data analysis. Results: The frequency of maternal history of medical disorders (28.7% vs. 12.0%; P = 0.001was significantly higher in children with ADHD compared with the control group. The frequency of jaundice, dysentery, epilepsy, asthma, allergy, and head trauma in the medicalhistory of children were not significantly differed between the two groups. Conclusion: According to this preliminary study, it may be concluded that the maternal historyof medical disorders is one of contributing risk factors for ADHD.

  11. Proteomics Analysis Reveals Previously Uncharacterized Virulence Factors in Vibrio proteolyticus

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    Ann Ray

    2016-07-01

    Full Text Available Members of the genus Vibrio include many pathogens of humans and marine animals that share genetic information via horizontal gene transfer. Hence, the Vibrio pan-genome carries the potential to establish new pathogenic strains by sharing virulence determinants, many of which have yet to be characterized. Here, we investigated the virulence properties of Vibrio proteolyticus, a Gram-negative marine bacterium previously identified as part of the Vibrio consortium isolated from diseased corals. We found that V. proteolyticus causes actin cytoskeleton rearrangements followed by cell lysis in HeLa cells in a contact-independent manner. In search of the responsible virulence factor involved, we determined the V. proteolyticus secretome. This proteomics approach revealed various putative virulence factors, including active type VI secretion systems and effectors with virulence toxin domains; however, these type VI secretion systems were not responsible for the observed cytotoxic effects. Further examination of the V. proteolyticus secretome led us to hypothesize and subsequently demonstrate that a secreted hemolysin, belonging to a previously uncharacterized clan of the leukocidin superfamily, was the toxin responsible for the V. proteolyticus-mediated cytotoxicity in both HeLa cells and macrophages. Clearly, there remains an armory of yet-to-be-discovered virulence factors in the Vibrio pan-genome that will undoubtedly provide a wealth of knowledge on how a pathogen can manipulate host cells.

  12. Incidence of Acneform Lesions in Previously Chemically Damaged Persons-2004

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    N Dabiri

    2008-04-01

    Full Text Available ABSTRACT: Introduction & Objective: Chemical gas weapons especially nitrogen mustard which was used in Iraq-Iran war against Iranian troops have several harmful effects on skin. Some other chemical agents also can cause acne form lesions on skin. The purpose of this study was to compare the incidence of acneform in previously chemically damaged soldiers and non chemically damaged persons. Materials & Methods: In this descriptive and analytical study, 180 chemically damaged soldiers, who have been referred to dermatology clinic between 2000 – 2004, and forty non-chemically damaged people, were chosen randomly and examined for acneform lesions. SPSS software was used for statistic analysis of the data. Results: The mean age of the experimental group was 37.5 ± 5.2 and that of the control group was 38.7 ± 5.9 years. The mean percentage of chemical damage in cases was 31 percent and the time after the chemical damage was 15.2 ± 1.1 years. Ninety seven cases (53.9 percent of the subjects and 19 people (47.5 percent of the control group had some degree of acne. No significant correlation was found in incidence, degree of lesions, site of lesions and age of subjects between two groups. No significant correlation was noted between percentage of chemical damage and incidence and degree of lesions in case group. Conclusion: Incidence of acneform lesions among previously chemically injured peoples was not higher than the normal cases.

  13. Relationship of deer and moose populations to previous winters' snow

    Science.gov (United States)

    Mech, L.D.; McRoberts, R.E.; Peterson, R.O.; Page, R.E.

    1987-01-01

    (1) Linear regression was used to relate snow accumulation during single and consecutive winters with white-tailed deer (Odocoileus virginianus) fawn:doe ratios, mosse (Alces alces) twinning rates and calf:cow ratios, and annual changes in deer and moose populations. Significant relationships were found between snow accumulation during individual winters and these dependent variables during the following year. However, the strongest relationships were between the dependent variables and the sums of the snow accumulations over the previous three winters. The percentage of the variability explained was 36 to 51. (2) Significant relationships were also found between winter vulnerability of moose calves and the sum of the snow accumulations in the current, and up to seven previous, winters, with about 49% of the variability explained. (3) No relationship was found between wolf numbers and the above dependent variables. (4) These relationships imply that winter influences on maternal nutrition can accumulate for several years and that this cumulative effect strongly determines fecundity and/or calf and fawn survivability. Although wolf (Canis lupus L.) predation is the main direct mortality agent on fawns and calves, wolf density itself appears to be secondary to winter weather in influencing the deer and moose populations.

  14. Kidnapping Detection and Recognition in Previous Unknown Environment

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    Yang Tian

    2017-01-01

    Full Text Available An unaware event referred to as kidnapping makes the estimation result of localization incorrect. In a previous unknown environment, incorrect localization result causes incorrect mapping result in Simultaneous Localization and Mapping (SLAM by kidnapping. In this situation, the explored area and unexplored area are divided to make the kidnapping recovery difficult. To provide sufficient information on kidnapping, a framework to judge whether kidnapping has occurred and to identify the type of kidnapping with filter-based SLAM is proposed. The framework is called double kidnapping detection and recognition (DKDR by performing two checks before and after the “update” process with different metrics in real time. To explain one of the principles of DKDR, we describe a property of filter-based SLAM that corrects the mapping result of the environment using the current observations after the “update” process. Two classical filter-based SLAM algorithms, Extend Kalman Filter (EKF SLAM and Particle Filter (PF SLAM, are modified to show that DKDR can be simply and widely applied in existing filter-based SLAM algorithms. Furthermore, a technique to determine the adapted thresholds of metrics in real time without previous data is presented. Both simulated and experimental results demonstrate the validity and accuracy of the proposed method.

  15. Strengthening Family Practices for Latino Families.

    Science.gov (United States)

    Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

  16. [ANTITHROMBOTIC MEDICATION IN PREGNANT WOMEN WITH PREVIOUS INTRAUTERINE GROWTH RESTRICTION].

    Science.gov (United States)

    Neykova, K; Dimitrova, V; Dimitrov, R; Vakrilova, L

    2016-01-01

    To analyze pregnancy outcome in patients who were on antithrombotic medication (AM) because of previous pregnancy with fetal intrauterine growth restriction (IUGR). The studied group (SG) included 21 pregnancies in 15 women with history of previous IUGR. The patients were on low dose aspirin (LDA) and/or low molecular weight heparin (LMWH). Pregnancy outcome was compared to the one in two more groups: 1) primary group (PG) including the previous 15 pregnancies with IUGR of the same women; 2) control group (CG) including 45 pregnancies of women matched for parity with the ones in the SG, with no history of IUGR and without medication. The SG, PG and CG were compared for the following: mean gestational age (g.a.) at birth, mean birth weight (BW), proportion of cases with early preeclampsia (PE), IUGR (total, moderate, and severe), intrauterine fetal death (IUFD), neonatal death (NND), admission to NICU, cesarean section (CS) because of chronic or acute fetal distress (FD) related to IUGR, PE or placental abruption. Student's t-test was applied to assess differences between the groups. P values < 0.05 were considered statistically significant. The differences between the SG and the PG regarding mean g. a. at delivery (33.7 and 29.8 w.g. respectively) and the proportion of babies admitted to NICU (66.7% vs. 71.4%) were not statistically significant. The mean BW in the SG (2114,7 g.) was significantly higher than in the PG (1090.8 g.). In the SG compared with the PG there were significantly less cases of IUFD (14.3% and 53.3% respectively), early PE (9.5% vs. 46.7%) moderate and severe IUGR (10.5% and 36.8% vs. 41.7% and 58.3%). Neonatal mortality in the SG (5.6%) was significantly lower than in the PG (57.1%), The proportion of CS for FD was not significantly different--53.3% in the SG and 57.1% in the PG. On the other hand, comparison between the SG and the CG demonstrated significantly lower g.a. at delivery in the SG (33.7 vs. 38 w.g.) an lower BW (2114 vs. 3094 g

  17. A case of taeniasis diagnosed postpartum.

    Science.gov (United States)

    Noss, Matthew R; Gilmore, Katherine; Wittich, Arthur C

    2013-04-01

    A case of postpartum taeniasis will be discussed along with the pathophysiology, proper treatment, potential risks, and prevention of taeniasis infections to the pregnant mother, her infant, and her family members. Taenia spp. infections are relatively rare in developed societies. Increasing immigration to developed countries and an expanding role of medical aid in developing countries will lead to an increase in the number of taeniasis cases seen by medical providers. Taenia solium and T. saginata are the most common species and can be differentiated by proglottids (a segment of a tapeworm containing both male and female reproductive organs) or scolex (the head of a tapeworm which attaches to the intestine of the definitive host). Both carry different risks when considering autoinfection and transmission. Cystercercosis caused by T. solium is a risk for neonates and is cause for immediate treatment of the mother. A 23-year-old new mother, originally from Ethiopia, passed T. strobili shortly after giving birth. Her pregnancy was complicated by limited prenatal care. She did not experience any symptoms related to tapeworm infection. The patient received treatment with praziquantel. With a possible future increase in the number of cases seen by health care providers, understanding the risks of Taenia sp. infection is important as proper treatment and education are needed to halt the life cycle of the tapeworm before more serious infection ensues. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

  18. Reduced bone mineral density in adult women diagnosed with menstrual disorders during adolescence.

    Science.gov (United States)

    Wiksten-Almströmer, Marianne; Hirschberg, Angelica Lindën; Hagenfeldt, Kerstin

    2009-01-01

    To evaluate the long-term effects on bone mineral density (BMD) in women diagnosed with menstrual disorders in their adolescence. Prospective follow-up study six years after the initial investigation. A youth clinic that is part of the school health system in Stockholm. Eighty-seven women diagnosed with secondary amenorrhea or oligomenorrhea in adolescence. Subjects underwent gynecological examination, evaluation of eating behavior and physical activity. Whole body Dual Energy X-ray Absorptiometry was used for measurement of BMD. BMD. The overall frequency of osteopenia/osteoporosis was 52%, and three girls had osteoporosis. Women with previous secondary amenorrhea had significantly lower BMD in the pelvis and lumbar spine than those with previous oligomenorrhea. The strongest predictor of low BMD was a restrictive eating disorder in adolescence and the most important counteraction was high physical activity at follow-up and a body mass index (BMI) > or = 22. Persistent menstrual dysfunction at follow-up was associated with polycystic ovary syndrome and lower frequency of osteopenia. This clinical follow-up study has demonstrated a high frequency of osteopenia in women diagnosed with menstrual disorders in adolescence. Previous anorectic behavior was the strongest negative predictor of BMD. It is important to pay attention to an underlying eating disorder in young women with menstrual dysfunction in order to promote bone health.

  19. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

    Science.gov (United States)

    Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

    2005-09-02

    Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

  20. Peeling skin syndrome in eight cases of four different families from India and Bangladesh

    Directory of Open Access Journals (Sweden)

    Nilendu Sarma

    2012-01-01

    Full Text Available Peeling skin syndrome (PSS is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. This has 2 subtypes, acral (APSS; OMIM 609796 and generalized form (OMIM 270300. The later has been subdivided into type A (non-inflammatory and type B (inflammatory. Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. They were diagnosed clinically and confirmed histopathologically. Disease onset ranged from birth to childhood age (mean 5.25 ± 4.528 years and age at presentation ranged from 7-35 years (mean 23.25 ± 10.471 years. Males outnumbered females (M:F - 5:3. All had non-inflammatory generalized disease of type-A PSS variety, except one who had type-B PSS. Two Muslim families (1 st and 2 nd family, total 5 patients came from nearby country Bangladesh, and the 2 Hindu families were Indian. Higher severity over acral areas in generalized type, possible autosomal dominant pattern of inheritance and improvement with age as found in this series were new manifestations and possibly unreported previously. The disease was found to be poorly responsive to oral retinoids. Prevalence of the disease may be higher than expected. Importance of mutational analysis was also highlighted.