WorldWideScience

Sample records for epithelium family history

  1. 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 ...

  2. Epithelium

    Science.gov (United States)

    The term "epithelium" refers to layers of cells that line hollow organs and glands. It is also those cells that make ... Kierszenbaum AL, Tres LL. Epithelium. In: Kierszenbaum AL, Tres LL, ... to Pathology . 4th ed. Philadelphia, PA: Elsevier Saunders; ...

  3. Creating a family health history

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000947.htm Creating a family health history To use the sharing ... Many health problems tend to run in families. Creating a family history can help you and your ...

  4. Surgeon General's Family Health History Initiative

    Science.gov (United States)

    ... Source Code The Surgeon General's Family Health History Initiative To help focus attention on the importance of ... health campaign, called the Surgeon General's Family History Initiative, to encourage all American families to learn more ...

  5. Damage to lens fiber cells causes TRPV4-dependent Src family kinase activation in the epithelium.

    Science.gov (United States)

    Shahidullah, M; Mandal, A; Delamere, N A

    2015-11-01

    The bulk of the lens consists of tightly packed fiber cells. Because mature lens fibers lack mitochondria and other organelles, lens homeostasis relies on a monolayer of epithelial cells at the anterior surface. The detection of various signaling pathways in lens epithelial cells suggests they respond to stimuli that influence lens function. Focusing on Src Family Kinases (SFKs) and Transient Receptor Potential Vanilloid 4 (TRPV4), we tested whether the epithelium can sense and respond to an event that occurs in fiber mass. The pig lens was subjected to localized freeze-thaw (FT) damage to fibers at posterior pole then the lens was incubated for 1-10 min in Krebs solution at 37 °C. Transient SFK activation in the epithelium was detectable at 1 min. Using a western blot approach, the ion channel TRPV4 was detected in the epithelium but was sparse or absent in fiber cells. Even though TRPV4 expression appears low at the actual site of FT damage to the fibers, SFK activation in the epithelium was suppressed in lenses subjected to FT damage then incubated with the TRPV4 antagonist HC067047 (10 μM). Na,K-ATPase activity was examined because previous studies report changes of Na,K-ATPase activity associated with SFK activation. Na,K-ATPase activity doubled in the epithelium removed from FT-damaged lenses and the response was prevented by HC067047 or the SFK inhibitor PP2 (10 μM). Similar changes were observed in response to fiber damage caused by injection of 5 μl hyperosmotic NaCl or mannitol solution beneath the surface of the posterior pole. The findings point to a TRPV4-dependent mechanism that enables the epithelial cells to detect remote damage in the fiber mass and respond within minutes by activating SFK and increasing Na,K-ATPase activity. Because TRPV4 channels are mechanosensitive, we speculate they may be stimulated by swelling of the lens structure caused by damage to the fibers. Increased Na,K-ATPase activity gives the lens greater capacity to

  6. Family History as Media and Methodological Inspiration for History Teaching

    Directory of Open Access Journals (Sweden)

    KAMIL ŠTĚPÁNEK

    2017-10-01

    Full Text Available The text of the contribution is inspired by relationships and issues arising from communication among parents, children, grandparents and grandchildren. It ensues from such terms as generation crisis, cohesion, cultivation of common values or family topics. It deals with family history captured in a family amateur movie, which is an appropriate media of alternative school and out-of-school pupils' activities.Within its framework the pupils can become aware of their own roots and evolution of their family histories, or how their histories were influenced by „the great history”. The presentation methodology of the summary of these pupils' explorations of private family materials used in history lessons forms an inseparable part.

  7. Family History in Young Patients With Stroke.

    Science.gov (United States)

    Thijs, Vincent; Grittner, Ulrike; Dichgans, Martin; Enzinger, Christian; Fazekas, Franz; Giese, Anne-Katrin; Kessler, Christof; Kolodny, Edwin; Kropp, Peter; Martus, Peter; Norrving, Bo; Ringelstein, Erich Bernd; Rothwell, Peter M; Schmidt, Reinhold; Tanislav, Christian; Tatlisumak, Turgut; von Sarnowski, Bettina; Rolfs, Arndt

    2015-07-01

    Family history of stroke is an established risk factor for stroke. We evaluated whether family history of stroke predisposed to certain stroke subtypes and whether it differed by sex in young patients with stroke. We used data from the Stroke in Fabry Patients study, a large prospective, hospital-based, screening study for Fabry disease in young patients (aged stroke in whom cardiovascular risk factors and family history of stroke were obtained and detailed stroke subtyping was performed. A family history of stroke was present in 1578 of 4232 transient ischemic attack and ischemic stroke patients (37.3%). Female patients more often had a history of stroke in the maternal lineage (P=0.027) than in the paternal lineage. There was no association with stroke subtype according to Trial of Org 10172 in Acute Stroke Treatment nor with the presence of white matter disease on brain imaging. Patients with dissection less frequently reported a family history of stroke (30.4% versus 36.3%; P=0.018). Patients with a parental history of stroke more commonly had siblings with stroke (3.6% versus 2.6%; P=0.047). Although present in about a third of patients, a family history of stroke is not specifically related to stroke pathogenic subtypes in patients with young stroke. Young women with stroke more often report stroke in the maternal lineage. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583. © 2015 American Heart Association, Inc.

  8. Pattern of family history in stone patients.

    Science.gov (United States)

    Marickar, Y M Fazil; Salim, Abiya; Vijay, Adarsh

    2009-12-01

    Genetic predisposition to urolithiasis is a much discussed topic. The objective of this paper is to identify the types of family members of proved urinary stone patients, who have a history of urinary stone formation. The study population consisted of 2,157 urinary stone patients interviewed in 2003-2007 in the urinary stone clinic. Family members with stone history were classified as group 1--first order single (one person in the immediate family-father, mother, siblings, or children), group 2--first order multiple (more than one member in the above group), group 3--second order single (one person in the blood relatives in family--grandparents, grandchildren, uncles, aunts, cousins, etc.) and group 4--second order multiple (more than one member in the above group). Of the 2,157 patients studied, 349 patients gave positive history of stone disease constituting 16.18%. Of these, 321 were males and 28 were females. Subdivision of the family members showed that 282 patients (80.80%) had single family member with stones and the rest 67 (19.20%) had multiple family members with history of stone disease. Group 1 which constituted one family member in the immediate family had 255 involvements (father: 88, mother: 16, brother: 135, sister: 2, son: 10, and daughter: 4); Group 2 with multiple members in the immediate family constituted 51 relatives; of these, father and brother combination was the most common with 35 occurrences. Group 3 with one person in the distant relatives in family namely grandparents, grand children, uncles, aunts, cousins, etc. constituted 27 occurrences and Group 4 with more than one member in the distant family constituted 16 occurrences. It is concluded that single family member involvement was more than multiple involvements. Males predominated. Stone occurrence was more in the immediate family members than distant relatives. Brothers formed the most common group to be involved with stone disease. Study of stone risk in the family members should

  9. Why Is It Important to Know My Family Medical History?

    Science.gov (United States)

    ... know my family medical history? Why is it important to know my family medical history? A family ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  10. Family History in Patients with Bipolar Disorder.

    Science.gov (United States)

    Özdemir, Osman; Coşkun, Salih; Aktan Mutlu, Elif; Özdemir, Pınar Güzel; Atli, Abdullah; Yilmaz, Ekrem; Keskin, Sıddık

    2016-09-01

    In this study, we aimed to better understand the genetic transmission of bipolar disorder by examining the family history of patients. Sixty-three patients with bipolar disorder and their families were included. The final sample comprised 156 bipolar patients and their family members. An inclusion criterion was the presence of bipolar disorder history in the family. The diagnosis of other family members was confirmed by analyzing their files, hospital records, and by calling them to the hospital. Sixty-five patients were women (41.6%) and 91 were men (58.3%) (ratio of men/women: 1.40). When analyzing the results in terms of the transition of disease from the mother's or father's side, similar results were obtained: 25 patients were from the mother's side and 25 patients were from the father's side in 63 cases. The results of our study support the fact that a significant relationship exists between the degree of kinship and the heritability of bipolar disorder and, furthermore, that the effect of the maternal and paternal sides is similar on the transmission of genetic susceptibility.

  11. Family History of Alcoholism: Are You at Risk?

    Science.gov (United States)

    ... alcoholism, you may have wondered what your family's history of alcoholism means for you. Are problems with ... for people who do not have a family history of alcoholism? If so, what can you do ...

  12. Family Ties: The Role of Family Context in Family Health History Communication about Cancer

    Science.gov (United States)

    Rodríguez, Vivian M.; Corona, Rosalie; Bodurtha, Joann N.; Quillin, John M.

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet, few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. Average age was 34 years, 59% identified as Black, 31% graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that, in turn, inform cancer prevention interventions. PMID:26735646

  13. Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

    Science.gov (United States)

    Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

  14. Accuracy of family history of cancer : clinical genetic implications

    NARCIS (Netherlands)

    Sijmons, RH; Boonstra, AE; Reefhuis, J; Hordijk-Hos, JM; de Walle, HEK; Oosterwijk, JC; Cornel, MC

    Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are

  15. Impact of family history and depression on amygdala volume.

    LENUS (Irish Health Repository)

    Saleh, Karim

    2012-07-30

    Family history of depression significantly impacts life-long depression risk. Family history could impact the stress and emotion regulation system that involves the amygdala. This study\\'s purpose was to investigate family history\\'s effect on amygdala volumes, and differences in first degree relatives with and without major depressive disorder (MDD). Participants, aged 18-65, were healthy volunteers (N=52) with (n=26) and without (n=26) first degree family history, and patients with MDD (N=48) with (n=27) and without (n=21)first-degree family history recruited for structural magnetic resonance imaging (MRI). Participants underwent clinical assessment followed by manual amygdala tracing. Patients with MDD without family history showed significantly larger right amygdala without a family history of MDD. These effects had larger right amygdala than healthy controls without MDD family history. These effects were pronounced in females. Family history and gender impacted amygdala volumes in all participants, providing a rationale for the inconsistent results in MDD amygdala studies. Higher familial risk in depression seems to be associated with smaller amygdala volumes, whereas depression alone is associated with larger amygdala volumes. Ultimately, these findings highlight consideration of family history and gender in research and treatment strategies.

  16. Recent Periodicals: Local History, Family and Community History, Cultural Heritage, Folk Studies, Anthropology - A Review (2016

    Directory of Open Access Journals (Sweden)

    R. Vladova

    2017-12-01

    Full Text Available An annual bibliography of papers in the field of local history, family and community history, cultural heritage, folk studies and anthropology, published in 2016, is collected. The inspected journals are: Bulgarian Journal of Science and Education Policy, Chemistry: Bulgarian Journal of Science Education, Current Anthropology, Family and Community History, Folklore, History and Memory, Journal of Family History, Journal of Folklore Research, Past & Present, Winterthur Portfolio. Many of those journals are available at us under subscription.

  17. Family History - An Early Warning for Your Child

    Centers for Disease Control (CDC) Podcasts

    2007-11-14

    Collecting family history information could save your child's life. Listen to learn more about how knowing your family history information could benefit your entire family.  Created: 11/14/2007 by National Center on Birth Defects and Developmental Disabilities.   Date Released: 11/28/2007.

  18. Nutrient-based dietary patterns, family history, and colorectal cancer.

    Science.gov (United States)

    Turati, Federica; Edefonti, Valeria; Bravi, Francesca; Ferraroni, Monica; Franceschi, Silvia; La Vecchia, Carlo; Montella, Maurizio; Talamini, Renato; Decarli, Adriano

    2011-11-01

    The effect of dietary habits on colorectal cancer (CRC) risk may be modified by a family history of CRC. We analyzed data from an Italian case-control study, including 1953 CRC cases and 4154 controls. Odds ratios (OR) and 95% confidence intervals (CI) for combined categories of family history and tertiles of two a posteriori dietary patterns were derived using multiple logistic regression models. Compared with individuals without family history and in the lowest tertile category of the 'starch-rich' pattern, the ORs of CRC were 1.38 (95% CI: 1.19-1.61) for the group without family history and in the highest tertile, 2.89 (95% CI: 2.30-3.64) for the one with family history and in the lowest tertile, and 4.00 (95% CI: 3.03-5.27) for the one with family history and in the highest tertile. Compared with individuals without family history and in the highest tertile of the 'vitamins and fiber' pattern, the ORs were 1.29 (95% CI: 1.12-1.48) for the group without family history and in the lowest tertile, 2.89 (95% CI: 2.30-3.64) for the one with family history and in the highest tertile, and 3.74 (95% CI: 2.85-4.91) for the one with family history and in the lowest tertile. Family history of CRC and 'starch-rich' or 'vitamins and fiber' patterns has an independent effect on CRC risk in our population. However, as having a family history plausibly implies shared environmental and/or genetic risk factors, our results could not exclude that dietary habits can modify genetic susceptibility to CRC.

  19. The Family in Us: Family History, Family Identity and Self-Reproductive Adaptive Behavior.

    Science.gov (United States)

    Ferring, Dieter

    2017-06-01

    This contribution is an essay about the notion of family identity reflecting shared significant experiences within a family system originating a set of signs used in social communication within and between families. Significant experiences are considered as experiences of events that have an immediate impact on the adaptation of the family in a given socio-ecological and cultural context at a given historical time. It is assumed that family history is stored in a shared "family memory" holding both implicit and explicit knowledge and exerting an influence on the behavior of each family member. This is described as transgenerational family memory being constituted of a system of meaningful signs. The crucial dimension underlying the logic of this essay are the ideas of adaptation as well as self-reproduction of systems.

  20. Lessons learned from family history in ocular genetics.

    Science.gov (United States)

    Marino, Meghan J

    2015-07-01

    Given the vast genetic and phenotypic heterogeneity seen in ocular genetic disorders, considering a patient's clinical phenotype in the context of the family history is essential. Clinicians can improve patient care by appropriately incorporating a patient's family history into their evaluation. Obtaining, reviewing, and accurately interpreting the pedigree are skills geneticists and genetic counselors possess. However, with the field of ophthalmic genetics vastly growing, it is becoming essential for ophthalmologists to understand the utility of the pedigree and develop their abilities in eliciting this information. By not considering a patient's clinical history in the context of the family history, diagnoses can be missed or inaccurate. The purpose of this review is to inform ophthalmologists on the importance of the family history and highlight how the pedigree can aid in establishing an accurate genetic diagnosis. This review also provides to ophthalmologists helpful tips on eliciting and interpreting a patient's family history.

  1. Family history and biochemical diagnosis in 1948 kidney stone formers

    Directory of Open Access Journals (Sweden)

    Francisco R. Spivacow

    2016-12-01

    Full Text Available Introduction: The presence of family history of nephrolithiasis is associated with an increased risk of renal lithiasis. Different epidemiological studies have shown a family component in the incidence of it, which is independent of dietary and environmental factors. The role of heredity is evident in monogenic diseases such as cystinuria, Dent’s disease or primary hyperoxaluria, while a polygenic inheritance has been proposed to explain the tendency to form calcium oxalate stones. Objective: Our objective was to evaluate the family history of patients with renal lithiasis and the correlation of family history with its corresponding biochemical alteration, considering only those with a single metabolic alteration. Methods: a prospective and retrospective observational and analytical study that included 1948 adults over 17 years of age and a normal control group of 165 individuals, all evaluated according to an ambulatory protocol to obtain a biochemical diagnosis. They were asked about their family history of nephrolithiasis and classified into five groups according to the degree of kinship and the number of people affected in the family. Results: a positive family history of nephrolithiasis was found in 27.4% of renal stone formers, predominantly in women, compared to 15.2% of normal controls. The family history of nephrolithiasis was observed especially in 31.4% of patients with hypomagnesuria and in 29.6% of hypercalciuric patients. The rest of the biochemical alterations had a positive family history between 28.6% in hyperoxaluria and 21.9% in hypocitraturia. The highest percentage of family history of nephrolithiasis was found in cystinuria (75% although there were few patients with this diagnosis. Conclusions: the inheritance has a clear impact on urolithiasis independently of the present biochemical alteration. Family history of nephrolithiasis of the first and second degree was observed between 21 and 32% of patients with renal

  2. Family History Is a Risk Factor for COPD

    Science.gov (United States)

    Hokanson, John E.; Lynch, David A.; Washko, George R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.

    2011-01-01

    Background: Studies have shown that family history is a risk factor for COPD, but have not accounted for family history of smoking. Therefore, we sought to identify the effects of family history of smoking and family history of COPD on COPD susceptibility. Methods: We compared 821 patients with COPD to 776 control smokers from the Genetic Epidemiology of COPD (COPDGene) Study. Questionnaires captured parental histories of smoking and COPD, as well as childhood environmental tobacco smoke (ETS) exposure. Socioeconomic status was defined by educational achievement. Results: Parental history of smoking (85.5% case patients, 82.9% control subjects) was more common than parental history of COPD (43.0% case patients, 30.8% control subjects). In a logistic regression model, parental history of COPD (OR, 1.73; P < .0001) and educational level (OR, 0.48 for some college vs no college; P < .0001) were significant predictors of COPD, but parental history of smoking and childhood ETS exposure were not significant. The population-attributable risk from COPD family history was 18.6%. Patients with COPD with a parental history had more severe disease, with lower lung function, worse quality of life, and more frequent exacerbations. There were nonsignificant trends for more severe emphysema and airway disease on quantitative chest CT scans. Conclusions: Family history of COPD is a strong risk factor for COPD, independent of family history of smoking, personal lifetime smoking, or childhood ETS exposure. Although further studies are required to identify genetic variants that influence COPD susceptibility, clinicians should question all smokers, especially those with known or suspected COPD, regarding COPD family history. PMID:21310839

  3. Family medicine training and practice in Malawi: History, progress ...

    African Journals Online (AJOL)

    Family medicine training and practice in Malawi: History, progress, and the anticipated role of the family physician in the Malawian health system. ... The idea of formal family medicine training and practice in Malawi started as early as 2001 but did not come to fruition until 2011, with the start of the undergraduate clerkship in ...

  4. The context of collecting family health history: examining definitions of family and family communication about health among African American women.

    Science.gov (United States)

    Thompson, Tess; Seo, Joann; Griffith, Julia; Baxter, Melanie; James, Aimee; Kaphingst, Kimberly A

    2015-04-01

    Public health initiatives encourage the public to discuss and record family health history information, which can inform prevention and screening for a variety of conditions. Most research on family health history discussion and collection, however, has predominantly involved White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women-16 with a history of cancer-analyzed participants' definitions of family, family communication about health, and collection of family health history information. Family was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g., biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g., sister) and characteristics of family members (e.g., trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to "own" or "claim" a disease). Few participants reported that anyone in their family kept formal family health history records. Results suggest family health history initiatives should address family tensions and communication patterns that affect discussion and collection of family health history information.

  5. Talking (or Not) about Family Health History in Families of Latino Young Adults

    Science.gov (United States)

    Corona, Rosalie; Rodríguez, Vivian; Quillin, John; Gyure, Maria; Bodurtha, Joann

    2013-01-01

    Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a…

  6. Family Health Histories and Their Impact on Retirement Confidence.

    Science.gov (United States)

    Zick, Cathleen D; Mayer, Robert N; Smith, Ken R

    2015-08-01

    Retirement confidence is a key social barometer. In this article, we examine how personal and parental health histories relate to working-age adults' feelings of optimism or pessimism about their overall retirement prospects. This study links survey data on retirement planning with information on respondents' own health histories and those of their parents. The multivariate models control for the respondents' socio-demographic and economic characteristics along with past retirement planning activities when estimating the relationships between family health histories and retirement confidence. Retirement confidence is inversely related to parental history of cancer and cardiovascular disease but not to personal health history. In contrast, retirement confidence is positively associated with both parents being deceased. As members of the public become increasingly aware of how genetics and other family factors affect intergenerational transmission of chronic diseases, it is likely that the link between family health histories and retirement confidence will intensify. © The Author(s) 2015.

  7. The Burden of History in the Family Business Organization

    DEFF Research Database (Denmark)

    Hjorth, Daniel; Dawson, Alexandra

    2016-01-01

    In this article we focus on the study of history through the use of narratives, within the context of the prevalent form of organization worldwide: the family business. Specifically we consider the dilemma of the impossible gift of succession using Nietzsche’s discussion of the burden of history...... and paralleling the story of a family business succession with that of Shakespeare’s King Lear. This way, we seek to make a contribution to organizational studies by answering recent calls to engage more with history in studies of business organizations. By implication, the study also initiates an integration...... of family business studies into organization studies....

  8. Family history of cardiovascular events and endothelial dysfunction in children with familial hypercholesterolemia

    NARCIS (Netherlands)

    de Jongh, Saskia; Lilien, Marc R.; Bakker, Henk D.; Hutten, Barbara A.; Kastelein, John J. P.; Stroes, Erik S. G.

    2002-01-01

    Objectives: in patients with familial hypercholesterolemia (FH), the propensity towards atherosclerosis may vary considerably. In the general population, a positive family history is associated with an increased risk for cardiovascular events. Since endothelial dysfunction is predictive for future

  9. relationship between family history of breast cancer

    African Journals Online (AJOL)

    User

    2013-07-02

    Jul 2, 2013 ... features of familial and sporadic breast cancer in Moroccan patients. METHODS: A ... 1Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Morocco. 2Department of ... prognosis (9, 10), whereas others have found no significant ..... slightly higher rate of this histological subtype.

  10. Medical History: Compiling Your Medical Family Tree

    Science.gov (United States)

    ... are missing. If you're adopted, ask your adoptive parents if they received any medical information about your biological parents at the time of your adoption. Adoption agencies also might have family medical information on file. If you were adopted ...

  11. Family history influences the early onset of hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Chung-Hwa Park; Seung-Hee Jeong; Hyeon-Woo Yim; Jin Dong Kim; Si Hyun Bae; Jong Young Choi; Seung Kew Yoon

    2012-01-01

    AIM:To evaluate the relationship between a positive family history of primary liver cancer and hepatocellular carcinoma (HCC) development in Korean HCC patients.METHODS:We studied a total of 2242 patients diagnosed with HCC between January 1990 and July 2008,whose family history of primary liver cancer was clearly described in the medical records.RESULTS:Of the 2242 patients,165 (7.4%) had a positive family history of HCC and 2077 (92.6%) did not.The male to female ratio was 3.6:1,and the major causes of HCC were chronic hepatitis B virus (HBV) infection in 75.1%,chronic hepatitis C virus infection in 13.2% and alcohol in 3.1%.The median ages at diagnosis in the positive-and negative-history groups were 52 years (range:29-79 years) and 57 years (range:18-89 years),respectively (P < 0.0001).Furthermore,among 1713 HCC patients with HBV infection,the number of patients under 45 years of age out of 136 patients with positive family history was 26 (19.1%),whereas those out of 1577 patients with negative family history was 197 (12.5%),suggesting that a positive family history may be associated with earlier development of HCC in the Korean population (P =0.0028).CONCLUSION:More intensive surveillance maybe recommended to those with a positive family history of HCC for earlier diagnosis and proper management especially when HBV infection is present.

  12. Strong family history and early onset of schizophrenia: about 2 ...

    African Journals Online (AJOL)

    Schizophrenia is a highly heritable psychotic disorder and high genetic loading is associated with early onset of the disease. The outcome of schizophrenia has also been linked with the age of onset as well as the presence of family history of the disease. Therefore families with patients with early onset Schizophrenia are ...

  13. Adolescents' knowledge of medical terminology and family health history.

    Science.gov (United States)

    Hastrup, J L; Phillips, S M; Vullo, K; Kang, G; Slomka, L

    1992-01-01

    Compared 309 youths ages 11 to 15 years and their parents with respect to their comprehension of terms for seven common medical disorders: heart attack, stroke, atherosclerosis, ulcer, hypertension, diabetes, and cancer. For two thirds of the adolescent sample, accuracy of reporting of these disorders among the parents and grandparents was assessed. Results indicated considerable variation among disorders with respect to both comprehension of terms and accuracy of family health history. Adolescents' age was a major predictor of knowledge of medical terms (r = .41). Age was not related to accuracy of family health information. Consonant with this finding, adolescents' level of accuracy regarding family health history was generally similar to that of previous adult samples, suggesting that family health information is acquired and retained at an early age. Adolescents were more accurate concerning parents' compared with grandparents' history of hypertension.

  14. Practising family history: 'identity' as a category of social practice.

    Science.gov (United States)

    Bottero, Wendy

    2015-09-01

    Research on family history argues it performs the task of anchoring a sense of 'self' through tracing ancestral connection and cultural belonging, seeing it as a form of storied 'identity-work'. This paper draws on a small-scale qualitative study to think further on the identity-work of family history. Using practice theory, and a disaggregated notion of 'identity', it explores how the storying of family histories relates to genealogy as a leisure hobby, a form of historical research, and an information-processing activity; and examines the social organization of that narrativity, where various practical engagements render certain kinds of genealogical information more, or less, 'storyable'. Key features of 'identity-work' in family history, such as the construction of genealogy as a personal journey of discovery and identification with particular ancestors, emerge as a consequence of the procedures of family history, organized as a set of practical tasks. The paper explores 'identity-work' as a consequence of people's engagement in specific social practices which provide an internal logic to their actions, with various components of 'identity' emerging as categories of practice shaped within, and for, use. Focusing on 'identity' as something produced when we are engaged in doing other things, the paper examines how the practical organization of 'doing other things' helps produce 'identity' in particular ways. © London School of Economics and Political Science 2015.

  15. Prevalence of family history in patients with reflex syncope

    DEFF Research Database (Denmark)

    Holmegard, Haya N; Benn, Marianne; Kaijer, Michelle Nymann

    2013-01-01

    Reflex syncope is defined by a rapid transient loss of consciousness caused by global cerebral hypoperfusion resulting from vasodilatation and/or bradycardia attributable to inappropriate cardiovascular reflexes. A hereditary component has been suggested, but prevalence of family history may differ...... among subtypes of reflex syncope, as these have different autonomic responses and pathogeneses may be diverse. The present study aimed to assess the prevalence of a positive family history of syncope and cardiovascular characteristics in patients with cardioinhibitory and vasodepressor reflex syncope....... Patients (n=74) were classified into subtypes of reflex syncope - cardioinhibition/asystole (Vasovagal Syncope International Study subtypes II-B [VASIS II-B], n=38) or vasodepressor (VASIS III, n=36) - using the head-up tilt test. Family history was obtained by questionnaires supplemented by interview...

  16. Family history and risk of breast cancer: an analysis accounting for family structure.

    Science.gov (United States)

    Brewer, Hannah R; Jones, Michael E; Schoemaker, Minouk J; Ashworth, Alan; Swerdlow, Anthony J

    2017-08-01

    Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take no account of the size and age-structure of the woman's family. Using data from the Generations Study, a cohort of over 113,000 women from the general UK population, we analyzed breast cancer risk in relation to first-degree family history using a family history score (FHS) that takes account of the expected number of family cases based on the family's age-structure and national cancer incidence rates. Breast cancer risk increased significantly (P trend  history was that combining FHS and age of relative at diagnosis. A family history score based on expected as well as observed breast cancers in a family can give greater risk discrimination on breast cancer incidence than conventional parameters based solely on cases in affected relatives. Our modeling suggests that a yet stronger predictor of risk might be a combination of this score and age at diagnosis in relatives.

  17. Quality of family history collection with use of a patient facing family history assessment tool.

    Science.gov (United States)

    Wu, R Ryanne; Himmel, Tiffany L; Buchanan, Adam H; Powell, Karen P; Hauser, Elizabeth R; Ginsburg, Geoffrey S; Henrich, Vincent C; Orlando, Lori A

    2014-02-13

    Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a patient facing FHH assessment tool, MeTree. In this paper we report the content and quality of the FHH collected using MeTree. A hybrid implementation-effectiveness study. Patients were recruited from 2009 to 2012. Two community primary care clinics in Greensboro, NC. All non-adopted adult English speaking patients with upcoming appointments were invited to participate. Education about and collection of FHH with entry into MeTree. We report the proportion of pedigrees that were high-quality. High-quality pedigrees are defined as having all the following criteria: (1) three generations of relatives, (2) relatives' lineage, (3) relatives' gender, (4) an up-to-date FHH, (5) pertinent negatives noted, (6) age of disease onset in affected relatives, and for deceased relatives, (7) the age and (8) cause of death (Prim Care31:479-495, 2004.). Enrollment: 1,184. Participant demographics: age range 18-92 (mean 58.8, SD 11.79), 56% male, and 75% white. The median pedigree size was 21 (range 8-71) and the FHH entered into MeTree resulted in a database of 27,406 individuals. FHHs collected by MeTree were found to be high quality in 99.8% (N = 1,182/1,184) as compared to quality of the FHH data that is collected and talking with relatives prior to the collection of FHH significantly improves the quantity and quality of the data provided. This allows more patients to be accurately risk stratified and offered appropriate preventive care guided by their risk level. NCT01372553.

  18. Talking (or not) about family health history in families of Latino young adults.

    Science.gov (United States)

    Corona, Rosalie; Rodríguez, Vivian; Quillin, John; Gyure, Maria; Bodurtha, Joann

    2013-10-01

    Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a sample of English-speaking Latino young adults. A total of 224 Latino young adults completed a survey that included measures on family communication, cultural factors, religious commitment, and cancer worry. We found that few Latino young adults reported collecting information from their families for the purposes of creating a family health history (18%) or sharing information about hereditary cancer risk with family members (16%). In contrast, slightly more than half of the participants reported generally "talking with their mothers about their family's health history of cancer." Logistic regression results indicated that cancer worry (odds ratio [OR] = 2.31; 95% confidence interval [CI] = 1.08-4.93), being female (OR = 3.12; 95% CI = 1.02-8.08), and being older (OR = 1.33; 95% CI = 1.01-1.76) were associated with increased rates of collecting information from family members. In contrast, orientation to the Latino culture (OR = 2.81; 95% CI = 1.33-5.94) and religious commitment (OR = 1.54; 95% CI = 1.02-2.32) were associated with increased rates of giving cancer information. Results highlight the need for prevention programs to help further general discussions about a family's history of cancer to more specific information related to family health history.

  19. Lifestyle, family history, and risk of idiopathic Parkinson disease

    DEFF Research Database (Denmark)

    Kenborg, Line; Lassen, Christina F.; Ritz, Beate

    2015-01-01

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations...

  20. A Brief History of Family Life Education in Romania

    Science.gov (United States)

    Momanu, Mariana; Popa, Nicoleta Laura; Samoila, Magda-Elena

    2018-01-01

    Starting from the state of conceptual diversity, semantic ambiguity, and poor connection of family life education practices to current policies and theoretical models in Romania, our study aims at understanding the underlying meanings of these issues by recourse to the history of approaches in the field. To this purpose, we carried out a…

  1. Family history in breast cancer is not a prognostic factor?

    NARCIS (Netherlands)

    Jobsen, J.J.; Meerwaldt, J.H.; van der Palen, Jacobus Adrianus Maria

    2000-01-01

    The aim of this study is to determine if breast conservative treatment is justified for patients with a positive family history of breast cancer and to investigate whether they have a worse prognosis. We performed a prospective cohort study of breast cancer patients, treated with breast conservative

  2. Poverty in Independent India : a History and Family Memoirs | CRDI ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Poverty in Independent India : a History and Family Memoirs. India's Dalits have historically been subjected to devastating social and economic discrimination. The economic growth experienced by the country since 1990 has seen Dalit incomes more than double. Nevertheless, 300 million Indians still live below the poverty ...

  3. Cannabis use and family history in adolescent first episode ...

    African Journals Online (AJOL)

    Objectives: To investigate the clinical correlates of cannabis use in adolescents with first episode psychosis (FEP). Methods: Inpatient psychiatric records provided demographic, lifetime cannabis use, family history of mental illness, and clinical data on 45 FEP adolescents, aged 12–18 years, admitted to a psychiatric unit in ...

  4. Importance of updating family cancer history in childhood cancer survivors.

    Science.gov (United States)

    Russo, Selena; Warby, Meera; Tucker, Katherine M; Wakefield, Claire E; Cohn, Richard J

    2017-10-01

    Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

  5. Progenitor Epithelium

    Science.gov (United States)

    Marty-Santos, Leilani

    2015-01-01

    Insulin-producing β cells within the vertebrate fetal pancreas acquire their fate in a step-wise manner. Whereas the intrinsic factors dictating the transcriptional or epigenetic status of pancreatic lineages have been intensely examined, less is known about cell–cell interactions that might constitute a niche for the developing β cell lineage. It is becoming increasingly clear that understanding and recapitulating these steps may instruct in vitro differentiation of embryonic stem cells and/or therapeutic regeneration. Indeed, directed differentiation techniques have improved since transitioning from 2D to 3D cultures, suggesting that the 3D microenvironment in which β cells are born is critical. However, to date, it remains unknown whether the changing architecture of the pancreatic epithelium impacts the fate of cells therein. An emerging challenge in the field is to elucidate how progenitors are allocated during key events, such as the stratification and subsequent resolution of the pre-pancreatic epithelium, as well as the formation of lumens and branches. Here, we assess the progenitor epithelium and examine how it might influence the emergence of pancreatic multipotent progenitors (MPCs), which give rise to β cells and other pancreatic lineages. PMID:26216134

  6. Neurobiological Phenotypes Associated with a Family History of Alcoholism

    Science.gov (United States)

    Cservenka, Anita

    2015-01-01

    Background Individuals with a family history of alcoholism are at much greater risk for developing an alcohol use disorder (AUD) than youth or adults without such history. A large body of research suggests that there are premorbid differences in brain structure and function in family history positive (FHP) individuals relative to their family history negative (FHN) peers. Methods This review summarizes the existing literature on neurobiological phenotypes present in FHP youth and adults by describing findings across neurophysiological and neuroimaging studies. Results Neuroimaging studies have shown FHP individuals differ from their FHN peers in amygdalar, hippocampal, basal ganglia, and cerebellar volume. Both increased and decreased white matter integrity has been reported in FHP individuals compared with FHN controls. Functional magnetic resonance imaging studies have found altered inhibitory control and working memory-related brain response in FHP youth and adults, suggesting neural markers of executive functioning may be related to increased vulnerability for developing AUDs in this population. Additionally, brain activity differences in regions involved in bottom-up reward and emotional processing, such as the nucleus accumbens and amygdala, have been shown in FHP individuals relative to their FHN peers. Conclusions It is critical to understand premorbid neural characteristics that could be associated with cognitive, reward-related, or emotional risk factors that increase risk for AUDs in FHP individuals. This information may lead to the development of neurobiologically informed prevention and intervention studies focused on reducing the incidence of AUDs in high-risk youth and adults. PMID:26559000

  7. Neurobiological phenotypes associated with a family history of alcoholism.

    Science.gov (United States)

    Cservenka, Anita

    2016-01-01

    Individuals with a family history of alcoholism are at much greater risk for developing an alcohol use disorder (AUD) than youth or adults without such history. A large body of research suggests that there are premorbid differences in brain structure and function in family history positive (FHP) individuals relative to their family history negative (FHN) peers. This review summarizes the existing literature on neurobiological phenotypes present in FHP youth and adults by describing findings across neurophysiological and neuroimaging studies. Neuroimaging studies have shown FHP individuals differ from their FHN peers in amygdalar, hippocampal, basal ganglia, and cerebellar volume. Both increased and decreased white matter integrity has been reported in FHP individuals compared with FHN controls. Functional magnetic resonance imaging studies have found altered inhibitory control and working memory-related brain response in FHP youth and adults, suggesting neural markers of executive functioning may be related to increased vulnerability for developing AUDs in this population. Additionally, brain activity differences in regions involved in bottom-up reward and emotional processing, such as the nucleus accumbens and amygdala, have been shown in FHP individuals relative to their FHN peers. It is critical to understand premorbid neural characteristics that could be associated with cognitive, reward-related, or emotional risk factors that increase risk for AUDs in FHP individuals. This information may lead to the development of neurobiologically informed prevention and intervention studies focused on reducing the incidence of AUDs in high-risk youth and adults. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. Near work, education, family history, and myopia in Greek conscripts.

    Science.gov (United States)

    Konstantopoulos, A; Yadegarfar, G; Elgohary, M

    2008-04-01

    To investigate potential factors associated with the presence of myopia in a cohort of young adult men carrying out their military service in Greece. A nested case-control study of 200 conscripts (99 myopes and 101 non-myopes). The cohort consisted of approximately 1000 conscripts in compulsory national service. All cohort members had been screened for refractive errors by Snellen visual acuity measurement at presentation to military service; individuals not achieving visual activity 6/6 underwent noncycloplaegic refraction. The study sample consisted of the first 99 myopic and 101 nonmyopic conscripts who attended the study. In-person interviews of these 200 conscripts were conducted to obtain information on family history, occupation, level of education, near-work activities, and sleeping behaviour. chi(2) and Mann-Whitney tests were used as univariate analysis methods to identify the potential factors associated with the presence of myopia. Multiple logistic regression was used to estimate the adjusted relative risk of myopia. Univariate analysis showed that parental family history (Pfamily history (OR=3.39, 95% CI 1.56-7.36) were independently associated with myopia. In young Greek conscripts, parental family history, older age, and education level are independently associated with myopia.

  9. Transitivizing-detransitivizing typology and language family history

    Directory of Open Access Journals (Sweden)

    Grünthal Riho

    2016-12-01

    Full Text Available The transitivizing/detransitivizing typology of Nichols et al. 2004 also proves useful to historical linguistics. We focus on language families of northern Eurasia, chiefly the three oldest families (Indo-European, Uralic, Nakh-Daghestanian, some of their daughter branches aged about 2000-3000 years, and one younger family for which we have data on enough daughters to support a family phylogeny (Tungusic. We use the 18-pair wordlist of Nichols et al. 2004, which typologizes each pair of verbs depending on which of the two is derived. We make some improvements in the coding of grammatical properties and the typologization of pairs. NeighborNet trees based on this information reveal family-wide linguistic geography and areal trends. Adding minimal information about the cognacy or non-cognacy of the roots of the wordlist items produces Neighbor- Net trees which approximate well the known phylogeny of the family. Thus very small closed data sets, collected originally for typology, yield rich information about language family history - strikingly, a mere 18 verbs (9 pairs, coded for morphological type and cognacy, yield a very good genealogical tree - while historical methods have also improved the typology.

  10. The Context of Collecting Family Health History: Examining Definitions of Family and Family Communication About Health Among African American Women

    Science.gov (United States)

    THOMPSON, TESS; SEO, JOANN; GRIFFITH, JULIA; BAXTER, MELANIE; JAMES, AIMEE; KAPHINGST, KIMBERLY A.

    2015-01-01

    Public health initiatives encourage the public to discuss and record family health history (FHH) information, which can inform prevention and screening for a variety of conditions. Most research on FHH discussion and collection, however, has involved predominantly White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women, 16 with a history of cancer, analyzed participants’ definitions of family, family communication about health, and collection of FHH information. “Family” was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g. biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g. sister) and characteristics of family members (e.g. trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to “own” or “claim” a disease). Few participants reported that anyone in their family kept formal FHH records. Results suggest FHH initiatives should address family tensions and communication patterns that affect discussion and collection of FHH information. PMID:25730634

  11. The antisocial family tree: family histories of behavior problems in antisocial personality in the United States.

    Science.gov (United States)

    Vaughn, Michael G; Salas-Wright, Christopher P; DeLisi, Matt; Qian, Zhengmin

    2015-05-01

    Multiple avenues of research (e.g., criminal careers, intergenerational family transmission, and epidemiological studies) have indicated a concentration of antisocial traits and behaviors that cluster among families and within individuals in a population. The current study draws on each of these perspectives in exploring the intergenerational contours of antisocial personality disorder across multiple generations of a large-scale epidemiological sample. The analytic sample of persons meeting criteria for antisocial personality disorder (N = 1,226) was derived from waves I and II of the National Epidemiologic Survey on Alcohol and Related Conditions. Path analytic, latent class, and multinomial models were executed to describe and elucidate family histories among persons diagnosed with antisocial personality disorder. Three classes of an antisocial family tree were found: minimal family history of problem behaviors (70.3 % of sample) who were characterized by higher socioeconomic functioning, parental and progeny behavior problems (9.4 % of sample) who were characterized by criminal behaviors, psychopathology, and substance use disorders, and multigenerational history of problem behaviors (20.3 % of sample) who were characterized by alcoholism, psychopathology, and versatile criminal offending. These findings add a typology to intergenerational studies of antisocial behavior that can assist in identifying etiological and treatment factors among those for whom crime runs in the family.

  12. Chitinase family GH18: evolutionary insights from the genomic history of a diverse protein family

    Directory of Open Access Journals (Sweden)

    Aronson Nathan N

    2007-06-01

    Full Text Available Abstract Background Chitinases (EC.3.2.1.14 hydrolyze the β-1,4-linkages in chitin, an abundant N-acetyl-β-D-glucosamine polysaccharide that is a structural component of protective biological matrices such as insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 (GH18 family of chitinases is an ancient gene family widely expressed in archea, prokaryotes and eukaryotes. Mammals are not known to synthesize chitin or metabolize it as a nutrient, yet the human genome encodes eight GH18 family members. Some GH18 proteins lack an essential catalytic glutamic acid and are likely to act as lectins rather than as enzymes. This study used comparative genomic analysis to address the evolutionary history of the GH18 multiprotein family, from early eukaryotes to mammals, in an effort to understand the forces that shaped the human genome content of chitinase related proteins. Results Gene duplication and loss according to a birth-and-death model of evolution is a feature of the evolutionary history of the GH18 family. The current human family likely originated from ancient genes present at the time of the bilaterian expansion (approx. 550 mya. The family expanded in the chitinous protostomes C. elegans and D. melanogaster, declined in early deuterostomes as chitin synthesis disappeared, and expanded again in late deuterostomes with a significant increase in gene number after the avian/mammalian split. Conclusion This comprehensive genomic study of animal GH18 proteins reveals three major phylogenetic groups in the family: chitobiases, chitinases/chitolectins, and stabilin-1 interacting chitolectins. Only the chitinase/chitolectin group is associated with expansion in late deuterostomes. Finding that the human GH18 gene family is closely linked to the human major histocompatibility complex paralogon on chromosome 1, together with the recent association of GH18 chitinase activity with Th2 cell inflammation, suggests that its late expansion

  13. Factors affecting frequency of communication about family health history with family members and doctors in a medically underserved population.

    Science.gov (United States)

    Kaphingst, Kimberly A; Goodman, Melody; Pandya, Chintan; Garg, Priyanka; Stafford, Jewel; Lachance, Christina

    2012-08-01

    Family history contributes to risk for many common chronic diseases. Little research has investigated patient factors affecting communication of this information. 1061 adult community health center patients were surveyed. We examined factors related to frequency of discussions about family health history (FHH) with family members and doctors. Patients who talked frequently with family members about FHH were more likely to report a family history of cancer (p =.012) and heart disease (p history of heart disease (p = .011), meet physical activity recommendations (p = .022), seek health information frequently in newspapers (p history of some diseases, those not meeting physical activity recommendations, and those who do not frequently seek health information may not have ongoing FHH discussions. Interventions are needed to encourage providers to update patients' family histories systematically and assist patients in initiating FHH conversations in order to use this information for disease prevention and control. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  14. Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.

    Science.gov (United States)

    Kallenberg, F G J; Aalfs, C M; The, F O; Wientjes, C A; Depla, A C; Mundt, M W; Bossuyt, P M M; Dekker, E

    2017-09-21

    Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.

  15. The Importance of the Family History in Caring for Families With Long QT Syndrome and Dilated Cardiomyopathy

    NARCIS (Netherlands)

    Ruiter, J.S.; Berkenbosch-Nieuwhof, K.; van den Berg, M.P.; van Dijk, R.; Middel, B.; van Tintelen, J.P.

    In potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy (DCM) or long QT syndrome (LQTS) and whether this led to screening of relatives or other follow-up. We

  16. Positive family history of aortic dissection dramatically increases dissection risk in family members.

    Science.gov (United States)

    Ma, Wei-Guo; Chou, Alan S; Mok, Salvior C M; Ziganshin, Bulat A; Charilaou, Paris; Zafar, Mohammad A; Sieller, Richard S; Tranquilli, Maryann; Rizzo, John A; Elefteriades, John A

    2017-08-01

    Although family members of patients with aortic dissection (AoD) are believed to be at higher risk of AoD, the prognostic value of family history (FH) of aortic dissection (FHAD) in family members of patients with AoD has not been studied rigorously. We seek examine how much a positive FHAD increases the risk of developing new aortic dissection (AoD) among first-degree relatives. Patients with AoD at our institution were analyzed for information of FHAD. Positive FHAD referred to that AoD occurred in index patient and one or more first-degree relatives. Negative FHAD was defined as the condition in which only one case of AoD (the index patient) occurred in the family. The age at AoD, exposure years in adulthood before AoD, and annual probability of AoD among first-degree relatives were compared between patients with negative and positive FHADs. FHAD was positive in 32 and negative in 68 among the 100 AoD patients with detailed family history information. Mean age at dissection was 59.9±14.7years. Compared to negative FHAD, patients with positive FHAD dissected at significantly younger age (54.7±16.8 vs 62.4±13.0years, p=0.013), had more AoD events in first-degree relatives (2.3±0.6 vs 1.0±0.0, pfamily members, with a higher annual probability of aortic dissection, a shorter duration of "exposure time" before dissection occurs and a lower mean age at time of dissection. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  17. Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

    Science.gov (United States)

    Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S

    2015-08-01

    This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p'scommunicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Young children's family history of stuttering and their articulation, language and attentional abilities: An exploratory study.

    Science.gov (United States)

    Choi, Dahye; Conture, Edward G; Tumanova, Victoria; Clark, Chagit E; Walden, Tedra A; Jones, Robin M

    The purpose of this study was to determine whether young children who do (CWS) and do not stutter (CWNS) with a positive versus negative family history of stuttering differ in articulation, language and attentional abilities and family histories of articulation, language and attention related disorders. Participants were 25 young CWS and 50 young CWNS. All 75 participants' caregivers consistently reported a positive or negative family history of stuttering across three consecutive time points that were about 8 months apart for a total of approximately 16 months. Each participant's family history focused on the same, relatively limited number of generations (i.e., participants' parents & siblings). Children's family history of stuttering as well as articulation, language, and attention related disorders was obtained from one or two caregivers during an extensive interview. Children's speech and language abilities were measured using four standardized articulation and language tests and their attentional abilities were measured using caregiver reports of temperament. Findings indicated that (1) most caregivers (81.5% or 75 out 92) were consistent in their reporting of positive or negative history of stuttering; (2) CWNS with a positive family history of stuttering, compared to those with a negative family history of stuttering, were more likely to have reported a positive family history of attention deficit/hyperactivity disorder (ADHD), and (3) CWNS with a positive family history of stuttering had lower language scores than those with a negative family history of stuttering. However, there were no such significant differences in family histories of ADHD and language scores for CWS with a positive versus negative family history of stuttering. In addition, although 24% of CWS versus 12% of CWNS's caregivers reported a positive family history of stuttering, inferential analyses indicated no significant differences between CWS and CWNS in relative proportions of family

  19. Awareness of the Family History as a Factor in Psychological Well-being in Adolescence

    Directory of Open Access Journals (Sweden)

    Yakimova T.V.,

    2015-02-01

    Full Text Available We present the results of the study of connection of psychological well-being of adolescents with their awareness of their own family history. We briefly overview the main trends and individual empirical studies on the influence of family history of psychological well-being of the individual. In the present study, we focuses not on pathological influence of family history, but on its resource and supporting effect during the difficulties of adolescence. The study involved 32 teenagers. The empirical study is based on data obtained using a questionnaire designed to examine the links of teenager with extended family members and his awareness of family history. We found that adolescents who know their family history, have an interest in it and keep in touch with the extended family, are characterized by high values of the level of psychological well-being.

  20. Is prevalence of colorectal polyps higher in patients with family history of colorectal cancer?

    OpenAIRE

    Murad-Regadas, Sthela Maria; Bezerra, Carla Camila Rocha; Peixoto, Ana Ligia Rocha; Regadas, Francisco Sérgio Pinheiro; Rodrigues, Lusmar Veras; Siebra, José Airton Gonçalves; da Silva Fernandes, Graziela Olivia; Vasconcelos, Rafael Aragão

    2015-01-01

    ABSTRACTObjectives:To assess the prevalence of polyps in patients with a family history of colorectal cancer, in comparison to asymptomatic individuals with indication for screening.Methods:A prospective study in a group of patients who underwent colonoscopy between 2012 and 2014. Patients were divided into two groups: Group I: no family history of colorectal cancer, and Group II: with a family history in first-degree relatives. Demographic characteristics, findings on colonoscopy...

  1. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

    DEFF Research Database (Denmark)

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina

    2015-01-01

    at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (... ascertained family history of premature (... incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged

  2. High accuracy of family history of melanoma in Danish melanoma cases

    DEFF Research Database (Denmark)

    Wadt, Karin A W; Drzewiecki, Krzysztof T; Gerdes, Anne-Marie

    2015-01-01

    The incidence of melanoma in Denmark has immensely increased over the last 10 years making Denmark a high risk country for melanoma. In the last two decades multiple public campaigns have sought to increase the awareness of melanoma. Family history of melanoma is a known major risk factor...... but previous studies have shown that self-reported family history of melanoma is highly inaccurate. These studies are 15 years old and we wanted to examine if a higher awareness of melanoma has increased the accuracy of self-reported family history of melanoma. We examined the family history of 181 melanoma...

  3. Mammography Screening Among African-American Women with a Family History of Breast Cancer

    National Research Council Canada - National Science Library

    Lipkus, Issac

    1997-01-01

    Comparisons were made between African-American women with and without a family history of breast cancer with respect to mammography screening, attitudes towards mammography screening and perceptions...

  4. Impact of Family History Assessment on Communication with Family Members and Health Care Providers: A report from the Family Healthware™ Impact Trial (FHITr)

    Science.gov (United States)

    Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.

    2015-01-01

    Objective This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. Methods A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6 month follow-up, adjusting for age, site and practice clustering. Results A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (psfamily members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Conclusion Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. PMID:25901453

  5. Family narratives on fostering a child with a history of sexual abuse

    NARCIS (Netherlands)

    Wubs, Susanna; Grietens, Hans; Batstra, Laura

    2016-01-01

    The impact of a history of sexual abuse on foster families has been studied, although never from a multilevel family perspective. Therefore, in Project Iris narratives are collected on the expertise, needs and experiences of family members in foster families concerning the care for a child with a

  6. Osteochondritis Dissecans Lesions in Family Members: Does a Positive Family History Impact Phenotypic Potency?

    Science.gov (United States)

    Gornitzky, Alex L; Mistovich, R Justin; Atuahuene, Brittany; Storey, Eileen P; Ganley, Theodore J

    2017-06-01

    Although repetitive microtrauma and athletic overuse patterns are most commonly associated with osteochondritis dissecans (OCD), recent studies have identified a potential genetic predisposition for OCD. Several case series have documented family pedigrees that support autosomal-dominant inheritance, but the families in these studies were all selected as a result of unique histories that may not accurately represent OCD inheritance patterns at large. Because there has been little investigation beyond these case reports, we aimed to describe a broader, more representative pattern of OCD inheritance applicable to all affected patients. (1) What proportion of patients treated for OCD of the knee have one or more immediate and/or extended family members with a history of OCD lesions? (2) Do patients with more phenotypically potent lesions, which we defined as patients with bilateral OCD lesions or patients who have undergone multiple procedures for OCD, have a higher frequency of affected relatives than those with less potent lesions? This retrospective study queried patient databases, diagnosis codes (International Classification of Diseases, 9th Revision), and surgical logs at a regional, tertiary care children's hospital to identify all patients treated over a 10-year period (March 2004-March 2014) by the senior author for OCD of the knee. All patients aged 0-18 years at the time of diagnosis were included. At our institution, patients with intact lesions are treated with a trial of conservative therapy; conversely, patients with a break in the articular cartilage and/or loose fragments of bone/cartilage are treated surgically. There were no OCD-specific contraindications to surgery. This search identified 543 patients. After patient identification, a questionnaire was designed that asked for the number, age, and gender of all immediate family members and the history of OCD lesions in any family member (immediate or extended). For all positive family members

  7. The prognostic value of family history among patients with urinary bladder cancer.

    Science.gov (United States)

    Egbers, Lieke; Grotenhuis, Anne J; Aben, Katja K; Alfred Witjes, J; Kiemeney, Lambertus A; Vermeulen, Sita H

    2015-03-01

    A history of urinary bladder cancer (UBC) in first-degree relatives increases UBC risk by twofold. The influence of positive family history on UBC prognosis is unknown. Here, we investigated association of first-degree UBC family history with clinicopathological characteristics and prognosis of UBC patients. Detailed clinical data of 1,465 non-muscle-invasive bladder cancer (NMIBC) and 250 muscle-invasive or metastatic bladder cancer (MIBC) patients, diagnosed from 1995 to 2010, were collected through medical file review. Competing risk analyses were used to compare recurrence-free survival (RFS) and progression-free survival (PFS) of NMIBC patients according to self-reported UBC family history. Overall survival in MIBC patients was estimated using Kaplan-Meier analysis. The added value of family history in prediction of NMIBC prognosis was quantified with Harrell's concordance-index. Hundred (6.8%) NMIBC and 14 (5.6%) MIBC patients reported UBC in first-degree relatives. Positive family history was statistically significantly associated with smaller tumor size and non-significantly with more favorable distribution of other tumor characteristics. In univariable analyses, positive family history correlated with longer RFS (p = 0.11) and PFS (p = 0.04). Hazard ratios for positive vs. negative family history after adjustment for clinicopathological characteristics were 0.75 (95% CI = 0.53-1.07) and 0.45 (95% CI = 0.18-1.12) for RFS and PFS, respectively. Five familial and 48 sporadic MIBC patients (Kaplan-Meier 10-year risk: 41% and 25%) died within 10 years. Family history did not improve the c-index of prediction models. This study shows that a first-degree family history of UBC is not clearly associated with NMIBC prognosis. Family history does not aid in prediction of NMIBC recurrence or progression. © 2014 The Authors. Published by Wiley Periodicals, Inc. on behalf of UICC.

  8. Components of family history associated with women's disease perceptions for cancer: a report from the Family Healthware™ Impact Trial.

    Science.gov (United States)

    Rubinstein, Wendy S; O'neill, Suzanne M; Rothrock, Nan; Starzyk, Erin J; Beaumont, Jennifer L; Acheson, Louise S; Wang, Catharine; Gramling, Robert; Galliher, James M; Ruffin, Mack T

    2011-01-01

    To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. Baseline, cross-sectional data on 2,505 healthy women aged 35-65 years enrolled from 41 primary care practices in the cluster-randomized Family Healthware™ Impact Trial, assessed for detailed family history and perceived risk, perceived severity, worry, and perceived control over getting six common diseases including breast, colon, and ovarian cancers. Participants provided family history information on 41,841 total relatives. We found evidence of underreporting of paternal family history and lower perceived breast cancer risk with cancer in the paternal versus maternal lineage. We observed cancer-specific perceived risks and worry for individual family history elements and also found novel "spillover" effects where a family history of one cancer was associated with altered disease perceptions of another. Having a mother with early-onset breast or ovarian cancer was strongly associated with perceived risk of breast cancer. Age, parenthood, and affected lineage were associated with disease perceptions and ran counter to empiric risks. Understanding patients' formulation of risk for multiple diseases is important for public health initiatives that seek to inform risk appraisal, influence disease perceptions, or match preventive interventions to existing risk perceptions.

  9. Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system

    Directory of Open Access Journals (Sweden)

    Agbaje Astrid B

    2011-10-01

    Full Text Available Abstract Background The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina. Methods/Design The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome

  10. Family history of atrial fibrillation is associated with earlier-onset and more symptomatic atrial fibrillation

    DEFF Research Database (Denmark)

    Gundlund, Anna; Fosbøl, Emil Loldrup; Kim, Sunghee

    2016-01-01

    BACKGROUND: We addressed whether patients with a family history of atrial fibrillation (AF) were diagnosed as having AF earlier in life, were more symptomatic, and had worse outcomes compared with those without a family history of AF. METHODS: Using the ORBIT-AF, we compared symptoms and disease...

  11. Family History, Gender, and Eating and Body Image Concerns in University Students Seeking Counseling Services

    Science.gov (United States)

    Cavallini, Adriane Q.; Erekson, David M.; Steinberg, Rachel M.; Clayson, Rachelle A.; Albright, Dallin D.

    2018-01-01

    Family history events have been shown to be reliable predictors of eating and body image concerns; however, little is known regarding how family history events compare in a clinical sample, or if these events differ by gender. The current study addresses this paucity, focusing on 3,129 university students seeking clinical services. Having a family…

  12. Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians.

    Science.gov (United States)

    Das, Mithun; Pal, Susil; Ghosh, Arnab

    2012-04-01

    Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians. A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood pressures, fasting blood glucose and metabolic profiles were studied using standard techniques. MS was defined accordingly. The prevalence of MS phenotypes was estimated and compared among the three familial risk strata. Individuals with a history of both parents affected from diabetes had significantly higher (Pfamily history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (Pfamily history of T2DM. Family history of T2DM had significant effect on individuals with MS as compared to their counterparts (individuals having no family history of T2DM). It therefore seems reasonable to argue that family history of T2DM could be useful as a predictive tool for early diagnosis and prevention of MS in Asian Indian population.

  13. Family history of premature death and risk of early onset cardiovascular disease

    DEFF Research Database (Denmark)

    Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina

    2012-01-01

    The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease.......The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease....

  14. Family history of skin cancer is associated with increased risk of cutaneous squamous cell carcinoma.

    Science.gov (United States)

    Asgari, Maryam M; Warton, E Margaret; Whittemore, Alice S

    2015-04-01

    The contribution of family history to cutaneous squamous cell carcinoma (SCC) risk has not been systematically quantified. To examine the association between self-reported family history of skin cancer and SCC risk. Cases (n = 415) with a pathology-verified SCC and 415 age-, gender-, and race-matched controls were identified within a large integrated health care delivery system. Family history and skin cancer risk factors were ascertained by survey. Odds ratios (ORs) for associations of SCC with family history of skin cancer were estimated using conditional logistic regression adjusted for environmental and innate SCC risk factors. Any known family history of skin cancer was associated with a four-fold higher risk of SCC, adjusting for known environmental and innate SCC risk factors (OR, 4.0; confidence interval [CI]: 2.5-6.5). An unknown family history of skin cancer showed similar risk for SCC (OR, 3.9; CI: 2.4-6.5). In models including skin cancer type, the strongest association was for family history of basal cell carcinoma (OR, 9.8; CI: 2.6-36.8) and for multiple skin cancer types (OR, 10.5; CI: 3.7-29.6). Family history of skin cancer is an important independent risk factor for cutaneous SCCs.

  15. Variability in Adaptive Behavior in Autism: Evidence for the Importance of Family History

    Science.gov (United States)

    Mazefsky, Carla A.; Williams, Diane L.; Minshew, Nancy J.

    2008-01-01

    Adaptive behavior in autism is highly variable and strongly related to prognosis. This study explored family history as a potential source of variability in adaptive behavior in autism. Participants included 77 individuals (mean age = 18) with average or better intellectual ability and autism. Parents completed the Family History Interview about…

  16. The clinical impact of a positive family history of psychosis or mental ...

    African Journals Online (AJOL)

    Background: A family history of psychosis is associated with negative clinical characteristics of psychosis. Aim: We aimed to determine the relationship between a family history (in first-degree relatives) of psychosis (FHP) or of any mental illness (FHM), and the clinical features (including cannabis use) of first episode early ...

  17. Family history of myocardial infarction, stroke and diabetes and cardiometabolic markers in children

    NARCIS (Netherlands)

    Berentzen, Nina E.; Wijga, Alet H.; van Rossem, Lenie; Koppelman, Gerard H.; van Nieuwenhuizen, Bo; Gehring, Ulrike; Spijkerman, Annemieke M. W.; Smit, Henriette A.

    Aims/hypothesis Despite the overlap in occurrence of cardiovascular disease (CVD) and type 2 diabetes and their risk factors, family history of these diseases has not yet been investigated simultaneously in relation to cardiometabolic markers in offspring. We examined how a family history of CVD

  18. Family history of myocardial infarction, stroke and diabetes and cardiometabolic markers in children

    NARCIS (Netherlands)

    Berentzen, Nina E; Wijga, Alet H; van Rossem, Lenie; Koppelman, Gerard H; van Nieuwenhuizen, Bo; Gehring, Ulrike; Spijkerman, Annemieke M W; Smit, Henriëtte A

    AIMS/HYPOTHESIS: Despite the overlap in occurrence of cardiovascular disease (CVD) and type 2 diabetes and their risk factors, family history of these diseases has not yet been investigated simultaneously in relation to cardiometabolic markers in offspring. We examined how a family history of CVD

  19. A detailed family history of myocardial infarction and risk of myocardial infarction

    DEFF Research Database (Denmark)

    Ranthe, Mattis Flyvholm; Petersen, Jonathan Aavang; Bundgård, Henning

    2015-01-01

    of cardiovascular medications. CONCLUSION: A detailed family history, particularly number of affected first- and second-degree relatives, contributes meaningfully to risk assessment, especially in middle-aged persons. Future studies should test for potential improvement of risk algorithm prediction using detailed......BACKGROUND: Family history of myocardial infarction (MI) is an independent risk factor for MI. Several genetic variants are associated with increased risk of MI and family history of MI in a first-degree relative doubles MI risk. However, although family history of MI is not a simple dichotomous...... risk factor, the impact of specific, detailed family histories has not received much attention, despite its high clinical relevance. We examined risk of MI by MIs in first- and second-degree relatives and by number and age of affected relatives. METHODS AND FINDINGS: Using Danish national registers, we...

  20. Prognostic significance of cancer family history for patients with gastric cancer: a single center experience from China.

    Science.gov (United States)

    Liu, Xiaowen; Cai, Hong; Yu, Lin; Huang, Hua; Long, Ziwen; Wang, Yanong

    2016-06-14

    Family history of cancer is a risk factor for gastric cancer. In this study, we investigated the prognoses of gastric cancer patients with family history of cancer. A total of 1805 gastric cancer patients who underwent curative gastrectomy from 2000 to 2008 were evaluated. The clinicopathologic parameters and prognoses of gastric cancer patients with a positive family history (PFH) of cancer were compared with those with a negative family history (NFH). Of 1805 patients, 382 (21.2%) patients had a positive family history of cancer. Positive family history of cancer correlated with younger age, more frequent alcohol and tobacco use, worse differentiation, smaller tumor size, and more frequent tumor location in the lower 1/3 of the stomach. The prognoses of patients with a positive family history of cancer were better than that of patients with a negative family history. Family history of cancer independently correlated with better prognosis after curative gastrectomy in gastric cancer patients.

  1. Deriving consumer-facing disease concepts for family health histories using multi-source sampling.

    Science.gov (United States)

    Hulse, Nathan C; Wood, Grant M; Haug, Peter J; Williams, Marc S

    2010-10-01

    The family health history has long been recognized as an effective way of understanding individuals' susceptibility to familial disease; yet electronic tools to support the capture and use of these data have been characterized as inadequate. As part of an ongoing effort to build patient-facing tools for entering detailed family health histories, we have compiled a set of concepts specific to familial disease using multi-source sampling. These concepts were abstracted by analyzing family health history data patterns in our enterprise data warehouse, collection patterns of consumer personal health records, analyses from the local state health department, a healthcare data dictionary, and concepts derived from genetic-oriented consumer education materials. Collectively, these sources yielded a set of more than 500 unique disease concepts, represented by more than 2500 synonyms for supporting patients in entering coded family health histories. We expect that these concepts will be useful in providing meaningful data and education resources for patients and providers alike.

  2. The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy.

    Science.gov (United States)

    Ruiter, Jolien S; Berkenbosch-Nieuwhof, Karin; van den Berg, Maarten P; van Dijk, Rene; Middel, Berrie; van Tintelen, J Peter

    2010-03-01

    In potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy (DCM) or long QT syndrome (LQTS) and whether this led to screening of relatives or other follow-up. We performed retrospective cross-sectional analyses of adult index patients with DCM or LQTS in a general hospital (GH) or a University Medical Center (UMC). We identified 82 index patients with DCM (34 GH; 48 UMC) and 20 with LQTS (all UMC) between 1996 and 2005. Mean follow-up was 58 months. A family history was recorded in 90% of both LQTS and DCM patients most of the cases restricted to first-degree family members. The genetic aspects, counseling and screening of family members was discussed significantly more often with LQTS than DCM patients (all P family members, DNA analysis and referral) was performed significantly more often in LQTS than DCM patients. Cardiologists in the UMC referred DCM index patients for genetic counseling more often than those in the GH (25% vs. 6%; P familial. Since early recognition and treatment may reduce morbidity and mortality we recommend cardiologists take a more thorough family history and always consider referring to a clinical genetics department in such index patients. (c) 2010 Wiley-Liss, Inc.

  3. Patterns of family health history communication among older African American adults.

    Science.gov (United States)

    Hovick, Shelly R; Yamasaki, Jill S; Burton-Chase, Allison M; Peterson, Susan K

    2015-01-01

    This qualitative study examined patterns of communication regarding family health history among older African American adults. The authors conducted 5 focus groups and 6 semi-structured interviews with African Americans aged 60 years and older (N = 28). The authors identified 4 distinct patterns of family health history communication: noncommunication, open communication, selective communication (communication restricted to certain people or topics), and one-way communication (communication not reciprocated by younger family members). In general, participants favored open family health history communication, often resulting from desires to change patterns of noncommunication in previous generations regarding personal and family health history. Some participants indicated that they were selective about what and with whom they shared health information in order to protect their privacy and not worry others. Others described family health history communication as one-way or unreciprocated by younger family members who appeared uninterested or unwilling to share personal and family health information. The communication patterns that the authors identified are consistent with communication privacy management theory and with findings from studies focused on genetic testing results for hereditary conditions, suggesting that individuals are consistent in their communication of health and genetic risk information. Findings may guide the development of health message strategies for African Americans to increase family health history communication.

  4. Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History

    Science.gov (United States)

    Giordimaina, Alicia M.; Sheldon, Jane P.; Kiedrowski, Lesli A.; Jayaratne, Toby Epstein

    2015-01-01

    Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey,…

  5. Family Support in Nursing Homes Serving Residents with a Mental Health History

    Science.gov (United States)

    Frahm, Kathryn; Gammonley, Denise; Zhang, Ning Jackie; Paek, Seung Chun

    2010-01-01

    Using 2003 nursing home data from the Minimum Data Set (MDS) database, this study investigated the role of family support among nursing homes serving residents with a mental health history. Exploratory factor analysis was used to create and test a conceptual model of family support using indicators located within the MDS database. Families were…

  6. Family Health History Communication Networks of Older Adults: Importance of Social Relationships and Disease Perceptions

    Science.gov (United States)

    Ashida, Sato; Kaphingst, Kimberly A.; Goodman, Melody; Schafer, Ellen J.

    2013-01-01

    Older individuals play a critical role in disseminating family health history (FHH) information that can facilitate disease prevention among younger family members. This study evaluated the characteristics of older adults and their familial networks associated with two types of communication ("have shared" and "intend to share…

  7. Correlation between obesity with atopy and family history of atopy in children

    Directory of Open Access Journals (Sweden)

    Putria Rayani Apandi

    2011-08-01

    Full Text Available Background The prevalence of childhood obesity and atopy has increased in recent decades. Research on links between obesity and atopy has shown varied results. Few previous studies have reported on the significance of family history of atopic disease in children. Objective To determine correlation between obesity with atopy and family history of atopic disease in children. Methods This cross-sectional study was conducted from April to September 2010 in the Pediatric Allergy-Immunology subdivision, Hasan Sadikin Hospital. Children aged 6−11 years were divided into four groups of 40 each: obese subjects with and without family history of atopic disease, and normal weight subjects with and without family history of atopic disease. Skin prick test was performed to determine which subjects had atopy. Chi-square test was used to analyze mutual independence, and partial Chi-square test was used to analyze correlation of obesity to atopy and family history of atopic disease in children. Environmental factors, type of childbirth, and pregnancy history were also analyzed as risk factors for atopy. Results Of 80 obese children with and without family history of atopic disease, 40 (100% and 38 (95%, respectively, were atopic. Of 80 normal weight children with and without family history of atopic disease, 39 (98% and 9 (23%, respectively, were atopic. Thus atopy was observed in 126 subjects, while the remaining 34 subjects were non-atopic. Partial test showed a correlation between obesity with atopy and family history of atopic disease (P < 0.001. There were no significant differences in risk factors for atopy by group. Conclusion Obesity correlates with atopy and family history of atopic disease in children.

  8. Community-centered family health history: a customized approach to increased health communication and awareness.

    Science.gov (United States)

    O'Leary, James; Edelson, Vaughn; Gardner, Nicora; Gepp, Alejandra; Kyler, Panelpha; Moore, Penelope; Petruccio, Claudia; Williams, Marc; Terry, Sharon; Bowen, Deborah

    2011-01-01

    There has been little study of whether family health history (FHH) tools used by individuals, families, and communities inspire measurable changes in communication and behavior. The Community-Centered Family Health History (CCFHH) project was a collaborative endeavor among national and community-based organizations with an interest in genetics education and health. Using community- based participatory research principles as a foundation, CCFHH examined whether the Does It Run In the Family? toolkit, a set of two customizable booklets on health and genetics, encourages discussion and collection of FHH information across diverse communities. Five communities across the country measured the utility of customized versions of the Does It Run In the Family? toolkit. Each community partner recruited families, consisting of two or more blood relatives, to use the toolkit for 3 months, discuss it among their family members, and consider the implications of the health information. Pre- and postintervention surveys measured family communication about family history and disease risk and the use of FHH information in health care provider interactions. After aggregate, cross-community analysis of individual responses, from pre- to post-toolkit use family members showed increases in communication about family history of disease risk (p < .05) and in awareness about FHH (p < .05). These findings indicate that diverse communities are receptive to FHH intervention, and tailored health educational materials can lead to increased conversations and awareness about health issues across communities.

  9. Population prevalence of first- and second-degree family history of breast and ovarian cancer.

    Science.gov (United States)

    Moghimi-Dehkordi, B; Safaee, A; Vahedi, M; Pourhoseingholi, M A; Pourhoseingholi, A; Zali, M R

    2011-12-01

    Family cancer history is an important risk factor for common cancers, thus, recognizing pattern of familial cancer can help us to identify individuals who may have higher chance to develop specified cancers. This cross-sectional survey assessed family history of cancer in first- and second degree relatives. Totally, 7,300 persons aged > or = 20 years selected by random sampling from Tehran general population. Age- and sex-specified prevalence of breast and ovarian cancer in respondent's family was calculated. Of all, 279(4.3%) individuals reported a history of breast or ovarian cancer in their relatives. The prevalence of breast cancer family history was 1.8% among first-degree relatives and 2.5% among second- degree relatives. For ovarian cancer, first- and second-degree prevalence ranged from 0.05 to 0.12%. Those with family history of cancer were more often young and female. Overall, the estimates of prevalence presented here are likely to be conservative compared with actual current prevalence because of some limitations. While family history is an important risk factor for common cancers such as breast cancer, recognizing pattern of familial cancer that signify increased risk can help us to identify individuals who may have higher chance to develop specified cancers.

  10. The influence of family history on cognitive heuristics, risk perceptions, and prostate cancer screening behavior.

    Science.gov (United States)

    McDowell, Michelle E; Occhipinti, Stefano; Chambers, Suzanne K

    2013-11-01

    To examine how family history of prostate cancer, risk perceptions, and heuristic decision strategies influence prostate cancer screening behavior. Men with a first-degree family history of prostate cancer (FDRs; n = 207) and men without a family history (PM; n = 239) completed a Computer Assisted Telephone Interview (CATI) examining prostate cancer risk perceptions, PSA testing behaviors, perceptions of similarity to the typical man who gets prostate cancer (representativeness heuristic), and availability of information about prostate cancer (availability heuristic). A path model explored family history as influencing the availability of information about prostate cancer (number of acquaintances with prostate cancer and number of recent discussions about prostate cancer) to mediate judgments of risk and to predict PSA testing behaviors and family history as a moderator of the relationship between representativeness (perceived similarity) and risk perceptions. FDRs reported greater risk perceptions and a greater number of PSA tests than did PM. Risk perceptions predicted increased PSA testing only in path models and was significant only for PM in multi-Group SEM analyses. Family history moderated the relationship between similarity perceptions and risk perceptions such that the relationship between these variables was significant only for FDRs. Recent discussions about prostate cancer mediated the relationships between family history and risk perceptions, and the number of acquaintances men knew with prostate cancer mediated the relationship between family history and PSA testing behavior. Family history interacts with the individuals' broader social environment to influence risk perceptions and screening behavior. Research into how risk perceptions develop and what primes behavior change is crucial to underpin psychological or public health intervention that seeks to influence health decision making.

  11. [Association between type 2 diabetes and physical activity in individuals with family history of diabetes].

    Science.gov (United States)

    Petermann, Fanny; Díaz-Martínez, Ximena; Garrido-Méndez, Álex; Leiva, Ana María; Martínez, María Adela; Salas, Carlos; Poblete-Valderrama, Felipe; Celis-Morales, Carlos

    To investigate whether the association between type 2 diabetes (T2D) and family history of diabetes is modified by the levels of physical activity in the Chilean population. In this study were included 5129 participants from the cross-sectional 2009-2010 National Health Survey. Physical activity level was assessed using the Global Physical Activity Questionnaire and family history of T2D, through self-reporting. The association between diabetes, family history of diabetes and physical activity was determined using logistic regression. The odds of developing T2D in people with family history of this pathology is high, independent of their levels of physical activity and adiposity. Both men and women with family history of T2D have a higher probability of developing T2D. The odds ratio for having T2D was 5,49 (95%CI: 3,85-7,84; p <0,0001) in women, and 8,16 (95%CI: 4,96-13,4; p <0,0001) in men with family history of T2D and low levels of physical activity in comparison to those with high levels of physical activity and without a family history. Given the elevated risk of developing T2D presented by individuals with a family history of this pathology, and the effect of physical activity in reducing such risk, people with family history of diabetes may need higher levels of physical activity to attenuate their susceptibility to T2D. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. The multi-faceted outcomes of conjunct diabetes and cardiovascular familial history in type 2 diabetes.

    Science.gov (United States)

    Hermans, Michel P; Ahn, Sylvie A; Rousseau, Michel F

    2012-01-01

    Familial history of early-onset CHD (EOCHD) is a major risk factor for CHD. Familial diabetes history (FDH) impacts β-cell function. Some transmissible, accretional gradient of CHD risk may exist when diabetes and EOCHD familial histories combine. We investigated whether the impact of such combination is neutral, additive, or potentiating in T2DM descendants, as regards cardiometabolic phenotype, glucose homeostasis and micro-/macroangiopathies. Cross-sectional retrospective cohort study of 796 T2DM divided according to presence (Diab[+]) or absence (Diab[-]) of 1st-degree diabetes familial history and/or EOCHD (CVD(+) and (-)). Four subgroups: (i) [Diab(-)CVD(-)] (n=355); (ii) [Diab(+)CVD(-)] (n=338); (iii) [Diab(-)CVD(+)] (n=47); and (iv) [Diab(+)CVD(+)] (n=56). No interaction on subgroup distribution between presence of both familial histories, the combination of which translated into additive detrimental outcomes and higher rates of fat mass, sarcopenia, (hs)CRP and retinopathy. FDH(+) had lower insulinemia, insulin secretion, hyperbolic product, and accelerated hyperbolic product loss. An EOCHD family history affected neither insulin secretion nor sensitivity. There were significant differences regarding macroangiopathy/CAD, more prevalent in [Diab(-)CVD(+)] and [Diab(+)CVD(+)]. Among CVD(+), the highest macroangiopathy prevalence was observed in [Diab(-)CVD(+)], who had 66% macroangiopathy, and 57% CAD, rates higher (absolute-relative) by 23%-53% (overall) and 21%-58% (CAD) than [Diab(+)CVD(+)], who inherited the direst cardiometabolic familial history (p 0.0288 and 0.0310). A parental history for diabetes markedly affects residual insulin secretion and secretory loss rate in T2DM offspring without worsening insulin resistance. It paradoxically translated into lower macroangiopathy with concurrent familial EOCHD. Conjunct diabetes and CV familial histories generate multi-faceted vascular outcomes in offspring, including lesser macroangiopathy/CAD. Copyright

  13. Increased blood BDNF in healthy individuals with a family history of depression

    DEFF Research Database (Denmark)

    Knorr, Ulla; Søndergaard, Mia H Greisen; Koefoed, Pernille

    2017-01-01

    The brain-derive neurotrophic factor (BDNF) may play an important role in the course of depression. We aimed to study the associations between peripheral whole blood BDNF levels in healthy individuals with and without a family history of depression. BDNF levels were significantly increased...... in healthy individuals with (n = 76), compared with healthy individuals without (n = 39) a family history of depression and persisted after adjustment for age and gender differences. Higher BDNF levels were associated with increasing age and seasonality. A family history of depression may contribute...... to an elevation of peripheral BDNF levels in healthy individuals....

  14. Life stress and family history for depression: the moderating role of past depressive episodes.

    Science.gov (United States)

    Monroe, Scott M; Slavich, George M; Gotlib, Ian H

    2014-02-01

    Three of the most consistently reported and powerful predictors of depression are a recent major life event, a positive family history for depression, and a personal history of past depressive episodes. Little research, however, has evaluated the inter-relations among these predictors in depressed samples. Such information is descriptively valuable and potentially etiologically informative. In the present article we summarize the existing literature and test four predictions in a sample of 62 clinically depressed individuals: (1) participants who experienced a major life event prior to onset would be less likely than participants who did not experience a major life event to have a positive family history for depression; (2) participants with a recent major life event would have fewer lifetime episodes of depression than would participants without; (3) participants with a positive family history for depression would have more lifetime episodes of depression than would participants with a negative family history for depression; and (4) we would obtain a 3-way interaction in which participants with a positive family history and without a major life event would have the most lifetime episodes, whereas participants with a negative family history and a major life event would have the fewest lifetime episodes. The first three predictions were confirmed, and the fourth prediction partially confirmed. These novel findings begin to elucidate the complex relations among these three prominent risk factors for depression, and point to avenues of research that may help illuminate the origins of depressive episodes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  15. Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

    International Nuclear Information System (INIS)

    Ostrom, Quinn T.; McCulloh, Christopher; Chen, Yanwen; Devine, Karen; Wolinsky, Yingli

    2012-01-01

    Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

  16. Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

    Energy Technology Data Exchange (ETDEWEB)

    Ostrom, Quinn T. [Department of Anthropology, Case Western Reserve University, Cleveland, OH (United States); McCulloh, Christopher [Case Western Reserve University School of Medicine, Cleveland, OH (United States); Chen, Yanwen; Devine, Karen; Wolinsky, Yingli, E-mail: qto@case.edu [Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH (United States)

    2012-02-28

    Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

  17. Family history of cancer in benign brain tumor subtypes versus gliomas

    Directory of Open Access Journals (Sweden)

    Quinn eOstrom

    2012-02-01

    Full Text Available Purpose: Family history is associated with gliomas, but this association has not ben established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study (OBTS. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%, 78 meningioma (65%, 49 pituitary adenoma (73.1% and 152 glioma patients (58.2%. The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs and 95% confidence intervals (95% CI. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusions: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

  18. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

    Science.gov (United States)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Armstrong, Georgina N.; Shete, Sanjay; Lau, Ching C.; Bainbridge, Matthew N.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Lai, Rose; Il'yasova, Dora; Houlston, Richard S.; Schildkraut, Joellen; Bernstein, Jonine L.; Olson, Sara H.; Jenkins, Robert B.; Lachance, Daniel H.; Wrensch, Margaret; Davis, Faith G.; Merrell, Ryan; Johansen, Christoffer; Sadetzki, Siegal; Bondy, Melissa L.; Melin, Beatrice S.; Adatto, Phyllis; Morice, Fabian; Payen, Sam; McQuinn, Lacey; McGaha, Rebecca; Guerra, Sandra; Paith, Leslie; Roth, Katherine; Zeng, Dong; Zhang, Hui; Yung, Alfred; Aldape, Kenneth; Gilbert, Mark; Weinberger, Jeffrey; Colman, Howard; Conrad, Charles; de Groot, John; Forman, Arthur; Groves, Morris; Levin, Victor; Loghin, Monica; Puduvalli, Vinay; Sawaya, Raymond; Heimberger, Amy; Lang, Frederick; Levine, Nicholas; Tolentino, Lori; Saunders, Kate; Thach, Thu-Trang; Iacono, Donna Dello; Sloan, Andrew; Gerson, Stanton; Selman, Warren; Bambakidis, Nicholas; Hart, David; Miller, Jonathan; Hoffer, Alan; Cohen, Mark; Rogers, Lisa; Nock, Charles J; Wolinsky, Yingli; Devine, Karen; Fulop, Jordonna; Barrett, Wendi; Shimmel, Kristen; Ostrom, Quinn; Barnett, Gene; Rosenfeld, Steven; Vogelbaum, Michael; Weil, Robert; Ahluwalia, Manmeet; Peereboom, David; Staugaitis, Susan; Schilero, Cathy; Brewer, Cathy; Smolenski, Kathy; McGraw, Mary; Naska, Theresa; Rosenfeld, Steven; Ram, Zvi; Blumenthal, Deborah T.; Bokstein, Felix; Umansky, Felix; Zaaroor, Menashe; Cohen, Avi; Tzuk-Shina, Tzeela; Voldby, Bo; Laursen, René; Andersen, Claus; Brennum, Jannick; Henriksen, Matilde Bille; Marzouk, Maya; Davis, Mary Elizabeth; Boland, Eamon; Smith, Marcel; Eze, Ogechukwu; Way, Mahalia; Lada, Pat; Miedzianowski, Nancy; Frechette, Michelle; Paleologos, Nina; Byström, Gudrun; Svedberg, Eva; Huggert, Sara; Kimdal, Mikael; Sandström, Monica; Brännström, Nikolina; Hayat, Amina; Tihan, Tarik; Zheng, Shichun; Berger, Mitchel; Butowski, Nicholas; Chang, Susan; Clarke, Jennifer; Prados, Michael; Rice, Terri; Sison, Jeannette; Kivett, Valerie; Duo, Xiaoqin; Hansen, Helen; Hsuang, George; Lamela, Rosito; Ramos, Christian; Patoka, Joe; Wagenman, Katherine; Zhou, Mi; Klein, Adam; McGee, Nora; Pfefferle, Jon; Wilson, Callie; Morris, Pagan; Hughes, Mary; Britt-Williams, Marlin; Foft, Jessica; Madsen, Julia; Polony, Csaba; McCarthy, Bridget; Zahora, Candice; Villano, John; Engelhard, Herbert; Borg, Ake; Chanock, Stephen K; Collins, Peter; Elston, Robert; Kleihues, Paul; Kruchko, Carol; Petersen, Gloria; Plon, Sharon; Thompson, Patricia; Johansen, C.; Sadetzki, S.; Melin, B.; Bondy, Melissa L.; Lau, Ching C.; Scheurer, Michael E.; Armstrong, Georgina N.; Liu, Yanhong; Shete, Sanjay; Yu, Robert K.; Aldape, Kenneth D.; Gilbert, Mark R.; Weinberg, Jeffrey; Houlston, Richard S.; Hosking, Fay J.; Robertson, Lindsay; Papaemmanuil, Elli; Claus, Elizabeth B.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Sloan, Andrew E.; Barnett, Gene; Devine, Karen; Wolinsky, Yingli; Lai, Rose; McKean-Cowdin, Roberta; Il'yasova, Dora; Schildkraut, Joellen; Sadetzki, Siegal; Yechezkel, Galit Hirsh; Bruchim, Revital Bar-Sade; Aslanov, Lili; Sadetzki, Siegal; Johansen, Christoffer; Kosteljanetz, Michael; Broholm, Helle; Bernstein, Jonine L.; Olson, Sara H.; Schubert, Erica; DeAngelis, Lisa; Jenkins, Robert B.; Yang, Ping; Rynearson, Amanda; Andersson, Ulrika; Wibom, Carl; Henriksson, Roger; Melin, Beatrice S.; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Merrell, Ryan; Lada, Patricia; Wrensch, Margaret; Wiencke, John; Wiemels, Joe; McCoy, Lucie; McCarthy, Bridget J.; Davis, Faith G.

    2014-01-01

    Background Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Methods Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. Results We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Conclusions Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes. PMID:24723567

  19. Levels of Distress in Women With a Family History of Ovarian Cancer

    National Research Council Canada - National Science Library

    Kash, Kathryn

    2005-01-01

    The overall goal of this study is to determine the levels of distress in women with a family history of ovarian cancer and to identify the mediating factors between risk of developing ovarian cancer...

  20. Levels of Distress in Women With a Family History of Ovarian Cancer

    National Research Council Canada - National Science Library

    Kash, Kathryn

    2001-01-01

    The overall goal of this study is to determine the levels of distress in women with a family history of ovarian cancer and to identify the mediating factors between risk of developing ovarian cancer and distress...

  1. Prostate cancer risk prediction based on complete prostate cancer family history

    OpenAIRE

    Albright, Frederick; Stephenson, Robert A; Agarwal, Neeraj; Teerlink, Craig C; Lowrance, William T; Farnham, James M; Albright, Lisa A Cannon

    2014-01-01

    Background Prostate cancer (PC) relative risks (RRs) are typically estimated based on status of close relatives or presence of any affected relatives. This study provides RR estimates using extensive and specific PC family history. Methods A retrospective population-based study was undertaken to estimate RRs for PC based on complete family history of PC. A total of 635,443 males, all with ancestral genealogy data, were analyzed. RRs for PC were determined based upon PC rates estimated from ma...

  2. High accuracy of family history of melanoma in Danish melanoma cases.

    Science.gov (United States)

    Wadt, Karin A W; Drzewiecki, Krzysztof T; Gerdes, Anne-Marie

    2015-12-01

    The incidence of melanoma in Denmark has immensely increased over the last 10 years making Denmark a high risk country for melanoma. In the last two decades multiple public campaigns have sought to increase the awareness of melanoma. Family history of melanoma is a known major risk factor but previous studies have shown that self-reported family history of melanoma is highly inaccurate. These studies are 15 years old and we wanted to examine if a higher awareness of melanoma has increased the accuracy of self-reported family history of melanoma. We examined the family history of 181 melanoma probands who reported 199 cases of melanoma in relatives, of which 135 cases where in first degree relatives. We confirmed the diagnosis of melanoma in 77% of all relatives, and in 83% of first degree relatives. In 181 probands we validated the negative family history of melanoma in 748 first degree relatives and found only 1 case of melanoma which was not reported in a 3 case melanoma family. Melanoma patients in Denmark report family history of melanoma in first and second degree relatives with a high level of accuracy with a true positive predictive value between 77 and 87%. In 99% of probands reporting a negative family history of melanoma in first degree relatives this information is correct. In clinical practice we recommend that melanoma diagnosis in relatives should be verified if possible, but even unverified reported melanoma cases in relatives should be included in the indication of genetic testing and assessment of melanoma risk in the family.

  3. Relation between family history, obesity and risk for diabetes and heart disease in Pakistani children

    International Nuclear Information System (INIS)

    Basit, A.; Hakeem, R.; Hydrie, M.Z.; Ahmadani, M.Y.; Masood, Q.

    2004-01-01

    Objective: To assess the differences in relative risk of developing diabetes and CHD, obesity, fasting blood glucose, insulin and lipids of children having family history of diabetes or heart disease in first or second degree relatives as compared to control group. Design: Children were given a questionnaire to collect demographic data and to assess their dietary habits and family history. Anthropometric measurements and blood samples for fasting blood glucose, insulin and lipids of 8-10 years old children from 4 schools was taken. Subjects: Children having positive family history of diabetes (n=44) or heart disease (n=16) in first or second degree relatives were compared with a control group (n=39). Results: Children having positive family history for diabetes had slightly higher mean values for BMI, waist circumference, arm fat % as compared to the controls but the differences were not statistically significant. Overweight children (>85th Percentile of BMI for age) did not differ significantly in terms of various risk indicators however those who were in the uppermost tertile of arm fat % had significantly higher total Cholesterol, Triglycerides, LDL-C, LDL:HDL and Insulin levels (P<0.05 in each case). Conclusion: Diabetes and CVD risks from positive family history for the disease are probably mediated through increased body fat percentage. Thus even when information about family history of disease is lacking, arm-fat-percentage could be used as an important screening tool for determining the risk status of children. (author)

  4. Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease.

    Science.gov (United States)

    Luckhoff, Hilmar K; Brand, Theresa; van Velden, Dawid P; Kidd, Martin; Fisher, Leslie R; van Rensburg, Susan J; Kotze, Maritha J

    2015-01-01

    Having a family history of Alzheimer' s disease (AD) may potentiate cumulative risk associated with phenotypic expression of the ε-4 allele of the apolipoprotein E (APOE) gene. In this study, we compared the genotype distribution and allele frequencies of APOE ε-2 (rs7412) and ε -4 (rs429358) in 537 South African individuals participating in a chronic disease screening program, in order to establish whether AD family history modulates the expression of their dyslipidemic effects. Significant differences in the genotype distribution for APOE ε-2 (p=0.034) as well as APOE ε-4 (p=0.038) were found between study participants with (n=67) and without (n=470) a family history of AD. LDL cholesterol levels were inversely associated with physical activity in the study group with a positive family history of AD (pfamilial hypercholesterolemia, clinical inquiry regarding family history was identified as an important determinant of eligibility for APOE genotyping performed in the context of chronic disease risk management. To our knowledge, this is the first study to demonstrate the modulating influence of AD family history on expression of a dyslipidemic phenotype associated with the APOE ε-4 allele. Our findings provide the scientific rationale supporting a novel clinical application for APOE genotyping as a means of identifying a genetic subgroup of dyslipidemic patients set to derive the greatest benefit from early lifestyle-based interventions aimed at decreasing cumulative risk for cardiovascular disease and prevention of AD later in life.

  5. Completeness of pedigree and family cancer history for ovarian cancer patients.

    Science.gov (United States)

    Son, Yedong; Lim, Myong Cheol; Seo, Sang Soo; Kang, Sokbom; Park, Sang Yoon

    2014-10-01

    To investigate the completeness of pedigree and of number of pedigree analysis to know the acceptable familial history in Korean women with ovarian cancer. Interview was conducted in 50 ovarian cancer patients for obtaining familial history three times over the 6 weeks. The completeness of pedigree is estimated in terms of familial history of disease (cancer), health status (health living, disease and death), and onset age of disease and death. The completion of pedigree was 79.3, 85.1, and 85.6% at the 1st, 2nd, and 3rd time of interview and the time for pedigree analysis was 34.3, 10.8, and 3.1 minutes, respectively. The factors limiting pedigree analysis were as follows: out of contact with their relatives (38%), no living ancestors who know the family history (34%), dispersed family member because of the Korean War (16%), unknown cause of death (12%), reluctance to ask medical history of relatives (10%), and concealing their ovarian cancer (10%). The percentage of cancers revealed in 1st (2%) and 2nd degree (8%) relatives were increasing through surveys, especially colorectal cancer related with Lynch syndrome (4%). Analysis of pedigree at least two times is acceptable in Korean woman with ovarian cancer from the first study. The completion of pedigree is increasing, while time to take family history is decreasing during three time survey.

  6. Family history of Alzheimer’s disease limits improvement in cognitive function after bariatric surgery

    Directory of Open Access Journals (Sweden)

    Michael L Alosco

    2014-06-01

    Full Text Available Background/Objective: Bariatric surgery can reverse cognitive impairments associated with obesity. However, such benefits may be attenuated in individuals with a predisposing risk for cognitive impairment such as family history of Alzheimer’s disease. Methods: In all, 94 bariatric surgery participants completed a computerized cognitive test battery before and 12 weeks after surgery. Family history of Alzheimer’s disease was obtained through self-report. Results: In the overall sample, cognitive function improved in memory and attention/executive function 12 weeks post-surgery. Repeated measures showed similar rates of improvements in attention/executive function between patients with and without a family history of Alzheimer’s disease. In contrast, only individuals without a family history of Alzheimer’s disease exhibited post-operative improvements in memory. A family history of Alzheimer’s disease was associated with greater post-surgery rates of cognitive impairment. Conclusions: Family history of Alzheimer’s disease may limit post-surgery cognitive benefits. Future studies should examine whether weight loss can modify the course of cognitive decline in patients at-risk for Alzheimer’s disease.

  7. Awareness of treatment history in family and friends, and mental health care seeking propensity.

    Science.gov (United States)

    Thériault, François L; Colman, Ian

    2017-04-01

    Many adults suffering from mental disorders never receive the care they need. The role of family and friends in overcoming mental health treatment barriers is poorly understood. We investigated the association between awareness of lifetime mental health treatment history in one's family or friends, and likelihood of having recently received mental health care for oneself. Using Canadian Community Health Survey 2012-Mental Health data, we defined care seekers as individuals who talked about mental health issues to at least one health professional in the past 12 months. Seekers were matched to non-seekers based on estimated care seeking propensity, and 1933 matched pairs were created. Reported awareness of lifetime treatment history in family and friends was compared between seekers and non-seekers. There were no differences in the distribution of any confounder of interest between seekers and non-seekers. 73% of seekers were aware of treatment history in family or friends, compared to only 56% of non-seekers (RR 1.3; 95% CI 1.2, 1.3). Awareness of treatment history in family members had nearly identical associations with care seeking as awareness of treatment history in friends. We have found a social clustering of mental health care seeking behavior; individuals who were aware of lifetime treatment history in family or friends were more likely to have recently sought care for themselves. These novel results are consistent with a social learning model of care seeking behavior, and could inform efforts to bridge the current mental health treatment gap.

  8. A Family History of Dilated Cardiomyopathy Induced by Viral Myocarditis

    Directory of Open Access Journals (Sweden)

    Thomas Cognet

    2012-01-01

    Full Text Available Myocarditis can lead to acute heart failure, cardiogenic shock, or sudden death and later, dilated cardiomyopathy (DCM with chronic heart failure. We report the cases of two DCM induced by acute and past myocarditis in the same family and expressed by its two main complications within few weeks: an hemodynamic presentation as a fulminant myocarditis rapidly leading to cardiac tranplantation and a rythmologic presentation as an electrical storm leading to catheter ablation of ventricular tachycardia. These cases ask the question of the family predisposition to viral myocarditis leading to DCM.

  9. Genetic and Environmental Influences on Achievement Outcomes Based on Family History of Learning Disabilities Status.

    Science.gov (United States)

    Erbeli, Florina; Hart, Sara A; Taylor, Jeanette

    2018-05-01

    A risk to develop a learning disability has been shown to run in families. Having a positive family history of learning disability seems to account for mean differences in achievement outcomes (reading, math) in that children with a positive family history score significantly lower compared to their peers with no such family history. However, the role of family history status in explaining etiological (genetic and environmental) differences among these subgroups of children has yet to be established. The present study of 872 twins ( M age = 13.30, SD age = 1.40) from the Florida Twin Project on Reading, Behavior, and Environment utilized a multigroup approach to examine etiological differences on reading, spelling, and math among two subgroups defined by family history status. Results showed significant mean differences on all achievement outcomes, aside from math; however, no significant etiological differences on any achievement outcome were found among the two subgroups. Results support previous literature that the risk for developing a learning disability is transmitted through a family, but this is seemingly not manifested by differential etiology.

  10. Multigenerational Positive Family History of Psychiatric Disorders Is Associated With a Poor Prognosis in Bipolar Disorder

    NARCIS (Netherlands)

    Post, Robert M.; Altshuler, Lori; Kupka, Ralph; McElroy, Susan L.; Frye, Mark A.; Rowe, Michael; Grunze, Heinz; Suppes, Trisha; Keck, Paul E.; Leverich, Gabriele S.; Nolen, Willem A.

    2015-01-01

    The authors assessed how family history loading affected the course of illness in patients from the United States. A total of 676 outpatients with bipolar disorder from the United States rated their illness and provided a parental and grandparental history of mood disorder, substance abuse, and

  11. FROM THE HISTORY OF PHYSICS My father and my family

    Science.gov (United States)

    Ginzburg, Vitaly L.

    2011-02-01

    In what proved to be his last paper, Vitaly Lazarevich Ginzburg gives some autobiographical information about his family tree, relatives, ancestors, and descendents and where the name Ginzburg comes from. A major part of V L Ginzburg's memoir is about his father — making up for what he considered to be a 'somewhat neglected' filial duty.

  12. Engaging Students: Discovering Family and Consumer Sciences History

    Science.gov (United States)

    Nickols, Sharon Y.; Sewell, Darby; Wilmarth, Melissa

    2008-01-01

    The centennial of the American Association of Family and Consumer Sciences (AAFCS) provides an opportunity to explore local as well as national aspects of the field. Studying events that shaped FCS and the women and men who provided early leadership reinforces the role of FCS in improving daily living conditions for the past century. Engaging…

  13. Age-related macular degeneration: the importance of family history as a risk factor.

    Science.gov (United States)

    Shahid, Humma; Khan, Jane C; Cipriani, Valentina; Sepp, Tiina; Matharu, Baljinder K; Bunce, Catey; Harding, Simon P; Clayton, David G; Moore, Anthony T; Yates, John R W

    2012-03-01

    Family history is considered a risk factor for age-related macular degeneration (AMD). With the advent of effective therapy for the disease, the importance of family history merits further investigation. This study quantifies the risk associated with family history, first, by a case-control study of reported family history and, second, by examining the siblings of AMD cases. The authors recruited cases with advanced AMD, spouses and siblings. All subjects were carefully phenotyped. Clinical findings in the siblings were compared with spouses. Information about family history was collected. The ORs for reported family history of AMD were calculated. Analyses were adjusted for age, smoking and genotype. 495 AMD cases, 259 spouses and 171 siblings were recruited. The OR for AMD was 27.8 (CI 3.8 to 203.0; p=0.001) with a reported family history of an affected parent and 12.0 (CI 3.7 to 38.6; p<0.0001) with a history of an affected sibling. ORs adjusted for age and smoking were higher. Examination of siblings confirmed their increased risk with 23% affected by AMD and an OR of 10.8 (4.5 to 25.8; p<0.0001). Adjusting for age increased the OR to 16.1 (6.2 to 41.8). The risk of AMD is greatly increased by having an affected first-degree relative. Those at risk need to be made aware of this and AMD patients should advise siblings and children to seek prompt ophthalmological advice if they develop visual symptoms of distortion or reduced vision.

  14. Family history of premature death and risk of early onset cardiovascular disease.

    Science.gov (United States)

    Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina; Tfelt-Hansen, Jacob; Christiansen, Michael; McKenna, William J; Wohlfahrt, Jan; Melbye, Mads; Boyd, Heather A

    2012-08-28

    The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease. Studies suggest that fatal cardiovascular events and less severe cardiovascular diseases may co-occur in families. Consequently, a family history of premature death may indicate a familial cardiac frailty that predisposes to early cardiovascular disease. We ascertained family history of premature death (age Denmark from 1950 to 2008 and followed this cohort for early cardiovascular disease (age history of premature cardiovascular death in first-degree relatives were 1.72 (95% confidence interval [CI]: 1.68 to 1.77), 2.21 (95% CI: 2.11 to 2.31), and 1.94 (95% CI: 1.70 to 2.20), respectively. With ≥2 cardiovascular deaths in a family, corresponding IRRs were 3.30 (95% CI: 2.77 to 3.94), 5.00 (95% CI: 3.87 to 6.45), and 6.18 (95% CI: 3.32 to 11.50). The IRR for any early cardiovascular disease given a family history of premature noncardiovascular death was significantly lower, 1.12 (95% CI: 1.10 to 1.14) (p(cardiac vs. noncardiac) history of premature cardiovascular death was consistently and significantly associated with a risk of early cardiovascular disease, suggesting an inherited cardiac vulnerability. These results should be kept in mind when assessing cardiovascular disease risk in persons with a family history of premature cardiovascular death. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  15. "That was grown folks' business": narrative reflection and response in older adults' family health history communication.

    Science.gov (United States)

    Yamasaki, Jill; Hovick, Shelly R

    2015-01-01

    Given the importance of family health history and the pivotal role of older adults in communicating it, this study examines how African American older adults (a) characterize their understandings of health-related conditions in their family histories and (b) rationalize their motivations and constraints for sharing this information with current family members. Using narrative theory as a framework, we illustrate how the participants reflect on prior health-related experiences within the family to respond to moral and practical calls for communicating family health information to current relatives. Specifically, our analysis highlights how storied family secrets--as constructed by 28 participants in group and individual interviews--reveal and inform shifting cultural and generational practices that shape the lived health behaviors and communication of older adults at greater risk for health disparities.

  16. Sending family history questionnaires to patients before a colonoscopy improves genetic counseling for hereditary colorectal cancer.

    Science.gov (United States)

    Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G; Offerhaus, G Johan A; Siersema, Peter D; Moons, Leon M G

    2017-06-01

    To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist. A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire. Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling. © 2017 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  17. A primary care audit of familial risk in patients with a personal history of breast cancer.

    Science.gov (United States)

    Nathan, Paul; Ahluwalia, Aneeta; Chorley, Wendy

    2014-12-01

    Breast cancer is the most common cancer diagnosed in women, both in the UK and worldwide. A small proportion of women are at very high risk of breast cancer, having a particularly strong family history. The National Institute for Health and Clinical Excellence (NICE) has advised that practitioners should not, in most instances, actively seek to identify women with a family history of breast cancer. An audit was undertaken at an urban primary care practice of 15,000 patients, using a paper-based, self-administered questionnaire sent to patients identified with a personal history of breast cancer. The aim of this audit was to determine whether using targeted screening of relatives of patients with breast cancer to identify familial cancer risk is worthwhile in primary care. Since these patients might already expected to have been risk assessed following their initial diagnosis, this audit acts as a quality improvement exercise. The audit used a validated family history questionnaire and risk assessment tool as a screening approach for identifying and grading familial risk in line with the NICE guidelines, to guide referral to the familial cancer screening service. The response rate to family history questionnaires was 54 % and the majority of patients responded positively to their practitioner seeking to identify familial cancer risks in their family. Of the 57 returned questionnaires, over a half (54 %) contained pedigrees with individuals eligible for referral. Patients and their relatives who are often registered with the practice welcome the discussion. An appropriate referral can therefore be made. The findings suggest a role for primary care practitioners in the identification of those at higher familial risk. However integrated systems and processes need designing to facilitate this work.

  18. The KinFact intervention - a randomized controlled trial to increase family communication about cancer history.

    Science.gov (United States)

    Bodurtha, Joann N; McClish, Donna; Gyure, Maria; Corona, Rosalie; Krist, Alexander H; Rodríguez, Vivian M; Maibauer, Alisa M; Borzelleca, Joseph; Bowen, Deborah J; Quillin, John M

    2014-10-01

    Knowing family history is important for understanding cancer risk, yet communication within families is suboptimal. Providing strategies to enhance communication may be useful. Four hundred ninety women were recruited from urban, safety-net, hospital-based primary care women's health clinics. Participants were randomized to receive the KinFact intervention or the control handout on lowering risks for breast/colon cancer and screening recommendations. Cancer family history was reviewed with all participants. The 20-minute KinFact intervention, based in communication and behavior theory, included reviewing individualized breast/colon cancer risks and an interactive presentation about cancer and communication. Study outcomes included whether participants reported collecting family history, shared cancer risk information with relatives, and the frequency of communication with relatives. Data were collected at baseline, 1, 6, and 14 months. Overall, intervention participants were significantly more likely to gather family cancer information at follow-up (odds ratio [OR]: 2.73; 95% confidence interval [CI]: 2.01, 3.71) and to share familial cancer information with relatives (OR: 1.85; 95% CI: 1.37, 2.48). Communication frequency (1=not at all; 4=a lot) was significantly increased at follow-up (1.67 vs. 1.54). Differences were not modified by age, race, education, or family history. However, effects were modified by pregnancy status and genetic literacy. Intervention effects for information gathering and frequency were observed for nonpregnant women but not for pregnant women. Additionally, intervention effects were observed for information gathering in women with high genetic literacy, but not in women with low genetic literacy. The KinFact intervention successfully promoted family communication about cancer risk. Educating women to enhance their communication skills surrounding family history may allow them to partner more effectively with their families and ultimately

  19. Known glioma risk loci are associated with glioma with a family history of brain tumours

    DEFF Research Database (Denmark)

    Melin, Beatrice; Dahlin, Anna M; Andersson, Ulrika

    2013-01-01

    significantly associated with glioma risk, rs6010620 (ORtrend for the minor (A) allele, 0.39; 95% CI: 0.25-0.61; Bonferroni adjusted ptrend , 1.7 × 10(-4) ). In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs6010620 (RTEL1) was associated with an increased risk...... family history of brain tumours, defined as having at least one first- or second-degree relative with a history of brain tumour, are associated with known glioma risk loci. One thousand four hundred and thirty-one glioma cases and 2,868 cancer-free controls were identified from four case-control studies...... and two prospective cohorts from USA, Sweden and Denmark and genotyped for seven SNPs previously reported to be associated with glioma risk in case-control designed studies. Odds ratios were calculated by unconditional logistic regression. In analyses including glioma cases with a family history of brain...

  20. Primary prevention in patients with a strong family history of coronary heart disease.

    Science.gov (United States)

    Burke, Lora A

    2003-01-01

    The interplay of genetic and environmental factors places first-degree relatives of individuals with premature coronary heart disease at greater risk of developing the disease than the general population. Disease processes, such as dyslipidemia, hypertension, and glucose and insulin metabolism, and lifestyle habits, such as eating and exercise patterns, as well as socioeconomic status aggregate in families with coronary heart disease. The degree of risk associated with a family history varies with the degree of relationship and the age at onset of disease. All individuals with a family history of premature heart disease should have a thorough coronary risk assessment performed, which can be initiated in an office visit. Absolute risk for coronary heart disease determination will predict the intensity of preventive interventions. This article reviews the components of risk determination and primary prevention in individuals with a strong family history of coronary heart disease.

  1. Gendered Cultural Identities: The Influences of Family and Privacy Boundaries, Subjective Norms, and Stigma Beliefs on Family Health History Communication.

    Science.gov (United States)

    Hong, Soo Jung

    2017-05-25

    This study investigates the effects of cultural norms on family health history (FHH) communication in the American, Chinese, and Korean cultures. More particularly, this study focuses on perceived family boundaries, subjective norms, stigma beliefs, and privacy boundaries, including age and gender, that affect people's FHH communication. For data analyses, hierarchical multiple regression and logistic regression methods were employed. The results indicate that participants' subjective norms, stigma beliefs, and perceived family/privacy boundaries were positively associated with current FHH communication. Age- and gender-related privacy boundaries were negatively related to perceived privacy boundaries, however. Finally, the results show that gendered cultural identities have three-way interaction effects on two associations: (1) between perceived family boundaries and perceived privacy boundaries and (2) between perceived privacy boundaries and current FHH communication. The findings have meaningful implications for future cross-cultural studies on the roles of family systems, subjective norms, and stigma beliefs in FHH communication.

  2. Evaluation of significance of positive familial history in prevalence of hypertension in Isfahan

    Directory of Open Access Journals (Sweden)

    Tavassoli A

    1997-09-01

    Full Text Available Hypertension is one of the most important modifiable risk factors of vascular heart disease. Control of hypertension in different age groups has a significant effect upon the control and prevention of vascular heart disease. A familial pattern is observed in the distribution of blood pressure in different societies. Family history of hypertension has a profound effect on the future risk of developing hypertension. The blood pressure of approximately 8150 inhabitants of Isfahan aged above 18 years was measured during 1993-94. Blood pressure measurements were performed according to the standards set by WHO i.e., on two separate occasions, in the sitting position, and from both arms. A questionnaire was completed consisting of 26 questions, including questions regarding history of hypertension in first and second-degree relatives. Cases with a blood pressure of 140/90 mmHg or more, were referred to the Cardiovascular Research Center of Isfahan for further evaluation. Mean systolic and diastolic blood pressure was higher in cases with a positive family history of hypertension. In this study, 37.4% of the men with hypertension and 45.4% of hypertensive women had positive history of hypertension in first-degree relatives. The association between positive family history and hypertension was not significant in men (P=0.62, but it was significant in women (P=0.000. This difference was less pronounced in the older age groups, which could be explained by the illiteracy of most of the older cases and their ignorance of the existence of hypertension in family members. After correcting for the effects of confounding factors, it appears that positive family history has a stronger association with the development of hypertension in women. Moreover, positive family history is a strong prognostic factor in the likelihood of hypertension in the children of affected cases. These findings emphasize the importance of routine blood pressure measurement in children and

  3. Relationship between family history of alcohol addiction, parents' education level, and smartphone problem use scale scores.

    Science.gov (United States)

    Beison, Ashley; Rademacher, David J

    2017-03-01

    Background and aims Smartphones are ubiquitous. As smartphones increased in popularity, researchers realized that people were becoming dependent on their smartphones. The purpose here was to provide a better understanding of the factors related to problematic smartphone use (PSPU). Methods The participants were 100 undergraduates (25 males, 75 females) whose ages ranged from 18 to 23 (mean age = 20 years). The participants completed questionnaires to assess gender, ethnicity, year in college, father's education level, mother's education level, family income, age, family history of alcoholism, and PSPU. The Family Tree Questionnaire assessed family history of alcoholism. The Mobile Phone Problem Use Scale (MPPUS) and the Adapted Cell Phone Addiction Test (ACPAT) were used to determine the degree of PSPU. Whereas the MPPUS measures tolerance, escape from other problems, withdrawal, craving, and negative life consequences, the ACPAT measures preoccupation (salience), excessive use, neglecting work, anticipation, lack of control, and neglecting social life. Results Family history of alcoholism and father's education level together explained 26% of the variance in the MPPUS scores and 25% of the variance in the ACPAT scores. The inclusion of mother's education level, ethnicity, family income, age, year in college, and gender did not significantly increase the proportion of variance explained for either MPPUS or ACPAT scores. Discussion and conclusions Family history of alcoholism and father's education level are good predictors of PSPU. As 74%-75% of the variance in PSPU scale scores was not explained, future studies should aim to explain this variance.

  4. 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.

  5. Relative Risks for Lethal Prostate Cancer Based on Complete Family History of Prostate Cancer Death.

    Science.gov (United States)

    Albright, Frederick S; Stephenson, Robert A; Agarwal, Neeraj; Cannon-Albright, Lisa A

    2017-01-01

    There are few published familial relative risks (RR) for lethal prostate cancer. This study estimates RRs for lethal prostate cancer based on comprehensive family history data, with the goal of improving identification of those men at highest risk of dying from prostate cancer. We used a population-based genealogical resource linked to a statewide electronic SEER cancer registry and death certificates to estimate relative risks (RR) for death from prostate cancer based upon family history. Over 600,000 male probands were analyzed, representing a variety of family history constellations of lethal prostate cancer. RR estimates were based on the ratio of the observed to the expected number of lethal prostate cancer cases using internal rates. RRs for lethal prostate cancer based on the number of affected first-degree relatives (FDR) ranged from 2.49 (95% CI: 2.27, 2.73) for exactly 1 FDR to 5.30 (2.13, 10.93) for ≥3 affected FDRs. In an absence of affected FDRs, increased risk was also significant for increasing numbers of affected second-degree or third degree relatives. Equivalent risks were observed for similar maternal and paternal family history. This study provides population-based estimates of lethal prostate cancer risk based on lethal prostate cancer family history. Many family history constellations associated with two to greater than five times increased risk for lethal prostate cancer were identified. These lethal prostate cancer risk estimates hold potential for use in identification, screening, early diagnosis, and treatment of men at high risk for death from prostate cancer. Prostate77:41-48, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Reduced small world brain connectivity in probands with a family history of epilepsy.

    Science.gov (United States)

    Bharath, R D; Chaitanya, G; Panda, R; Raghavendra, K; Sinha, S; Sahoo, A; Gohel, S; Biswal, B B; Satishchandra, P

    2016-12-01

    The role of inheritance in ascertaining susceptibility to epilepsy is well established, although the pathogenetic mechanisms are still not very clear. Interviewing for a positive family history is a popular epidemiological tool in the understanding of this susceptibility. Our aim was to visualize and localize network abnormalities that could be associated with a positive family history in a group of patients with hot water epilepsy (HWE) using resting-state functional magnetic resonance imaging (rsfMRI). Graph theory analysis of rsfMRI (clustering coefficient γ; path length λ; small worldness σ) in probands with a positive family history of epilepsy (FHE+, 25) were compared with probands without FHE (FHE-, 33). Whether a closer biological relationship was associated with a higher likelihood of network abnormalities was also ascertained. A positive family history of epilepsy had decreased γ, increased λ and decreased σ in bilateral temporofrontal regions compared to FHE- (false discovery rate corrected P ≤ 0.0062). These changes were more pronounced in probands having first degree relatives and siblings with epilepsy. Probands with multiple types of epilepsy in the family showed decreased σ in comparison to only HWE in the family. Graph theory analysis of the rsfMRI can be used to understand the neurobiology of diseases like genetic susceptibility in HWE. Reduced small worldness, proportional to the degree of relationship, is consistent with the current understanding that disease severity is higher in closer biological relations. © 2016 EAN.

  7. The contribution of family history to hearing loss in an older population.

    Science.gov (United States)

    McMahon, Catherine M; Kifley, Annette; Rochtchina, Elena; Newall, Philip; Mitchell, Paul

    2008-08-01

    Although it has been well established that the prevalence of and severity of hearing loss increase with age, the contribution of familial factors to age-related hearing loss cannot be quantified. This is largely because hearing loss in older people has both genetic and environmental contributions. As environmental factors play an increasing role with age, it is difficult to delineate the separate contribution of genetic factors to age-related hearing loss. In a population-based survey of hearing loss in a representative older Australian community, we attempted to overcome this using logistic regression analysis, accounting for known factors associated with hearing loss including age, sex, noise exposure at work, diabetes, and current smoking. We tested hearing thresholds using pure tone audiometry and used a forced choice questionnaire to determine the nature of family history in a population of individuals aged 50 yrs or older in a defined region, west of Sydney, Australia (N = 2669). We compared the characteristics of participants with and without family history of hearing loss. Of those reporting a positive family history, we compared subgroups for age, gender and severity of hearing loss, and trends by the severity of hearing loss. Logistic regression was used to obtain odds ratios (ORs) with 95% confidence intervals (CIs) that compared the chances of having hearing loss in participants with and without family history, after adjusting for other factors known associated with hearing loss. Our findings indicate that family history was most strongly associated with moderate to severe age-related hearing loss. We found a strong association between maternal family history of hearing loss and moderate to severe hearing loss in women (adjusted OR 3.0; 95% CI 1.6-5.6 in women with without a maternal history). Paternal family history of hearing loss was also significantly, though less strongly, associated with moderate-severe hearing loss in men (adjusted OR 2.0; CI 1

  8. Genome-Wide Association Study Reveals Greater Polygenic Loading for Schizophrenia in Cases With a Family History of Illness

    Science.gov (United States)

    Bigdeli, Tim B.; Ripke, Stephan; Bacanu, Silviu-Alin; Lee, Sang Hong; Wray, Naomi R.; Gejman, Pablo V.; Rietschel, Marcella; Cichon, Sven; St Clair, David; Corvin, Aiden; Kirov, George; McQuillin, Andrew; Gurling, Hugh; Rujescu, Dan; Andreassen, Ole A.; Werge, Thomas; Blackwood, Douglas H.R.; Pato, Carlos N.; Pato, Michele T.; Malhotra, Anil K.; O’Donovan, Michael C.; Kendler, Kenneth S.; Fanous, Ayman H.

    2018-01-01

    Genome-wide association studies (GWAS) of schizophrenia have yielded more than 100 common susceptibility variants, and strongly support a substantial polygenic contribution of a large number of small allelic effects. It has been hypothesized that familial schizophrenia is largely a consequence of inherited rather than environmental factors. We investigated the extent to which familiality of schizophrenia is associated with enrichment for common risk variants detectable in a large GWAS. We analyzed single nucleotide polymorphism (SNP) data for cases reporting a family history of psychotic illness (N = 978), cases reporting no such family history (N = 4,503), and unscreened controls (N = 8,285) from the Psychiatric Genomics Consortium (PGC1) study of schizophrenia. We used a multinomial logistic regression approach with model-fitting to detect allelic effects specific to either family history subgroup. We also considered a polygenic model, in which we tested whether family history positive subjects carried more schizophrenia risk alleles than family history negative subjects, on average. Several individual SNPs attained suggestive but not genome-wide significant association with either family history subgroup. Comparison of genome-wide polygenic risk scores based on GWAS summary statistics indicated a significant enrichment for SNP effects among family history positive compared to family history negative cases (Nagelkerke’s R2 = 0.0021; P = 0.00331; P-value threshold history positive compared to family history negative cases (0.32 and 0.22, respectively; P = 0.031).We found suggestive evidence of allelic effects detectable in large GWAS of schizophrenia that might be specific to particular family history subgroups. However, consideration of a polygenic risk score indicated a significant enrichment among family history positive cases for common allelic effects. Familial illness might, therefore, represent a more heritable form of schizophrenia, as suggested by

  9. Learning from e-Family History: A Model of Online Family Historian Research Behaviour

    Science.gov (United States)

    Friday, Kate

    2014-01-01

    Introduction: This paper reports on doctoral research which investigated the online research behaviour of family historians, from the overall perspective of local studies collections and developing online services for family historians. Method: A hybrid (primarily ethnographic) study was employed using qualitative diaries and shadowing, to examine…

  10. Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

    Science.gov (United States)

    Johnatty, Sharon E; Tan, Yen Y; Buchanan, Daniel D; Bowman, Michael; Walters, Rhiannon J; Obermair, Andreas; Quinn, Michael A; Blomfield, Penelope B; Brand, Alison; Leung, Yee; Oehler, Martin K; Kirk, Judy A; O'Mara, Tracy A; Webb, Penelope M; Spurdle, Amanda B

    2017-11-01

    To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis. Risk was also evaluated for family history of up to three cancers from known familial syndromes (Lynch, Cowden, hereditary breast and ovarian cancer) overall, by histological subtype and, for a subset of 678 patients, by EC tumor mismatch repair (MMR) gene expression. Report of EC in ≥1 first- or second-degree relative was associated with significantly increased risk of EC (P=3.8×10 -7 ), independent of lifestyle risk factors. There was a trend in increasing EC risk with closer relatedness and younger age at EC diagnosis in relatives (P Trend =4.43×10 -6 ), and with increasing numbers of Lynch cancers in relatives (P Trend ≤0.0001). EC risk associated with family history did not differ by proband tumor MMR status, or histological subtype. Reported EC in first- or second-degree relatives remained associated with EC risk after conservative correction for potential misreported family history (OR 2.0; 95% CI, 1.24-3.37, P=0.004). The strongest predictor of EC risk was closer relatedness and younger EC diagnosis age in ≥1 relative. Associations remained significant irrespective of proband MMR status, and after excluding MMR pathogenic variant carriers, indicating that Lynch syndrome genes do not fully explain familial EC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Does a family history of RA influence the clinical presentation and treatment response in RA?

    Science.gov (United States)

    Frisell, Thomas; Saevarsdottir, Saedis; Askling, Johan

    2016-06-01

    To assess whether family history of rheumatoid arthritis (RA), among the strongest risk factors for developing RA, also carries information on the clinical presentation and treatment response. The prospective Swedish Rheumatology register was linked to family history of RA, defined as diagnosed RA in any first-degree relative, ascertained through the Swedish Multi-Generation and Patient registers. Clinical presentation was examined among patients with early RA 2000-2011 (symptom onset clinical characteristics, drug survival, European League Against Rheumatism (EULAR) response and change in disease activity at 3 and 6 months was estimated using linear and generalised logistic regression models. Correlation in relatives' response measures was also assessed. Patients with early RA with family history of RA were more often rheumatoid factor positive, but with no other clinically meaningful differences in their clinical presentation. Family history of RA did not predict response to MTX or TNFi, with the possible exception of no versus good EULAR response to TNFi at 6 months (OR=1.4, 95% CI 1.1 to 1.7). Having a relative who discontinued TNFi within a year increased the odds of doing the same (OR=3.7, 95% CI 1.8 to 7.5), although we found no significant familial correlations in change in disease activity measures. Family history of RA did not modify the clinical presentation of RA or predict response to standard treatment with MTX or TNFi. Treatment response, particularly drug survival, may itself be familial. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. Psychological impact of family history risk assessment in primary care: a mixed methods study.

    Science.gov (United States)

    Birt, Linda; Emery, Jon D; Prevost, A Toby; Sutton, Stephen; Walter, Fiona M

    2014-08-01

    Routine family history risk assessment for chronic diseases could enable primary care practitioners to efficiently identify at-risk patients and promote preventive management strategies. To investigate patients' understanding and responses to family history risk assessment in primary care. A mixed methods study set in 10 Eastern England general practices. Participants in a family history questionnaire validation study were triaged into population or increased risk for four chronic diseases (type 2 diabetes, cardiovascular disease, breast cancer, colorectal cancer). Questionnaires completed immediately prior to the family history consultation (baseline) and 4 weeks later (follow-up) assessed the psychological impact, including State-Trait Anxiety Inventory scores. Semi-structured interviews explored the meaning participants gave to their personal familial disease risk. Four hundred and fifty-three participants completed both baseline and follow-up questionnaires and 30 were interviewed. At follow-up, there was no increase in anxiety among either group, or differences between the groups [difference in mean change 0.02, 95% confidence interval -2.04, 2.08, P = 0.98]. There were no significant changes over time in self-rated health in either group. At follow-up, participants at increased risk (n = 153) were more likely to have recent changes to behaviour and they had stronger intentions to make changes to diet (P = 0.001), physical activity (P = 0.006) and to seek further information in the future than those at population risk (n = 300; P assessment for familial risk of chronic diseases may be undertaken in primary care without causing anxiety or reducing self-rated health. Patient responses to family history risk assessment may inform promotion of preventive management strategies. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  13. Variability of hemodynamic parameters in young healthy subjects with and without hypertensive family history

    International Nuclear Information System (INIS)

    Palombo, C.; Michelassi, C.; Ghione, S.

    1987-01-01

    In order to assess the short-term variability of the hemodynamic pattern in healthy normal subjects, Transcutaneous Aortovelography, a continuous wave Doppler technique, was performed in 17 normotensive males, 11 with and 6 without hypertensive family history and repeated after 30'. Reproducibility of measurements in the whole sample was comparable with previous observation reported in literature, but in the group with a positive family history of hypertension the reproducibility of most parameters was lower than in the other, suggesting the existence of a greater hemodynamic variability in normotensive offspring of hypertensive parents

  14. Genetic risk scores and family history as predictors of schizophrenia in Nordic registers

    DEFF Research Database (Denmark)

    Lu, Y.; Pouget, J. G.; Andreassen, O. A.

    2017-01-01

    through the quality control procedures used by the Psychiatric Genomics Consortium. Using external training data, GRS were estimated for SCZ, bipolar disorder (BIP), major depression, autism, educational attainment, and body mass index. Multivariable modeling was used to estimate effect sizes. Results......: Using harmonized genomic and national register data from Denmark, Estonia, Norway, and Sweden, we confirmed that family history of SCZ and GRS for SCZ and BIP were risk factors for SCZ. In a joint model, the effects of GRS for SCZ and BIP were essentially unchanged, and the effect of family history...

  15. Delinquency and family problems in incarcerated adolescents with and without a history of inhalant use.

    Science.gov (United States)

    McGarvey, E L; Canterbury, R J; Waite, D

    1996-01-01

    In this retrospective study of incarcerated adolescents, inhalants were used by significantly more nonminority than minority youth. Among both minority and nonminority groups, family problems and delinquent behaviors were higher among those youth with a history of inhalant use than those who reported no use. Family problems included history of running away from home, breaking rules, fighting with parents, and having relatives who had attempted suicide. Delinquent behavior included earlier personal use of drugs, selling illegal drugs, buying drugs from dealers, committing crimes while under the influence, committing crimes to get money to buy drugs, and threatening to hurt people.

  16. Prevalence of a positive family history of type 2 diabetes in women with polycystic ovarian disease.

    Science.gov (United States)

    Fox, R

    1999-12-01

    The known association between insulin resistance and polycystic ovarian disease (PCOD) has been studied by determination of the prevalence of a positive family history of diabetes in a consecutive series of oligomenorrheic women with polycystic ovaries and eumenorrheic women with normal ovaries who served as controls. A significantly greater proportion of the families of the patients with PCOD had at least one member affected by type 2 diabetes (39.1% of the PCOD group and 7.6% of the controls; p PCOD had an increased prevalence of type 2 diabetes within their families. Paternal and maternal family members affected were in similar proportions, there being no evidence of preferential transmission through the female line in this study. The increased prevalence of type 2 diabetes in the families of women with polycystic ovaries is further evidence for the association between PCOD and insulin resistance, and provides a possible explanation for the familial nature of the ovarian disorder.

  17. Giuseppe and Aloysius Frari's works on rabies and history of Frari medical family of Sibenik, Dalmatia.

    Science.gov (United States)

    Krnić, Anton

    2007-06-01

    This article is an attempt to reconstruct the family history of the Fraris, the famous Sibenik medical family. Three generations of physicians from the Frari family played an important role not only at medical and social scene of Sibenik in the 18th and 19th century, but also in Croatian and Italian medical history. I will try to provide important details on the lives, medical and social work, and publications of 5 members of the family, Giuseppe (Josip), Angelo Antonio (Andeo Antun), Sebastiano (Sebastijan), Michele Carlo (Mihovil), and Aloysius (Luigi) Frari. I would also like to pay a special attention to the works on rabies, written by Giuseppe and Luigi Frari, which are among the earliest and most accurate Croatian works on the subject. To reconstruct the history of the family, I studied the relevant editions about the medical and social history of Sibenik, Dalmatia, Venice, and Croatia, together with the Fraris' publications and reflections. This was the first time Italian and Latin language works by Giuseppe and Luigi Frari on rabies were analyzed. The story on Fraris also documents that medical publishing was a common practice in Dalmatia in the 18th and the 19th century.

  18. The validity of the family history method for identifying Alzheimer disease.

    Science.gov (United States)

    Li, G; Aryan, M; Silverman, J M; Haroutunian, V; Perl, D P; Birstein, S; Lantz, M; Marin, D B; Mohs, R C; Davis, K L

    1997-05-01

    To examine the validity of the family history method for identifying Alzheimer disease (AD) by comparing family history and neuropathological diagnoses. Seventy-seven former residents of the Jewish Home and Hospital for the Aged, New York, NY, with neuropathological evaluations on record were blindly assessed for the presence of dementia and, if present, the type of dementia through family informants by telephone interviews. The Alzheimer's Disease Risk Questionnaire was used to collect demographic information and screen for possible dementia. If dementia was suspected, the Dementia Questionnaire was administered to assess the course and type of dementia, i.e., primary progressive dementia (PPD, likely AD), multiple infarct dementia, mixed dementia (i.e., PPD and multiple infarct dementia), and other dementias based on the modified Diagnostic and Statistical Manual of Mental Disorders, Third Edition, criteria. Sixty (77.9%) of 77 elderly subjects were classified as having dementia and 17 (22.1%) were without dementia by family history evaluation. Of the 60 elderly subjects with dementia, 57 (95%) were found at autopsy to have had neuropathological changes related to dementia. The sensitivity of the family history diagnosis for dementia with related neuropathological change was 0.84 (57 of 68) and the specificity was 0.67 (6 of 9). Using family history information to differentiate the type of dementia, the sensitivity for definite or probable AD (with or without another condition) was 0.69 (36 of 51) and the specificity was 0.73 (19 of 26). The majority (9 of 15) of patients testing false negative for PPD had a history of stroke associated with onset of memory changes, excluding a diagnosis of PPD. Identifying dementia, in general, and AD, in particular, has an acceptable sensitivity and specificity. As is true for direct clinical diagnosis, the major issue associated with misclassifying AD in a family history assessment is the masking effects of a coexisting non

  19. Motivations, barriers, and behaviors related to obtaining and discussing family health history: A sex-based comparison among young adults

    Directory of Open Access Journals (Sweden)

    Matthew Lee eSmith

    2015-11-01

    Full Text Available Background: Genetic predisposition is a risk factor for many chronic diseases, yet little is known about the frequency in which college students seek out their family health history or with whom they communicate relevant information.Purpose: This study examines motivations and barriers associated with obtaining one’s family health history and discussing it with others. Methods: Data were analyzed from 625 college students using an internet-delivered questionnaire. Questions asked respondents about intentions and motivations to obtain and share family health history as well as barriers encountered in obtaining family health history. Responses were bifurcated by participants’ sex. Chi-squared and t statistics were used to identify response differences by sex. Results: Females were significantly more likely than males to be motivated to obtain their family health history, and more likely to have: shared their family health history with others; state they would share their family health history with others; and express a preference for sharing their family health history with a wider range of people. Discussion: Educational interventions and improved student health services could be effective mechanisms to increase college students’ knowledge, awareness, and perceived importance of obtaining their family health history.

  20. Motivations, Barriers, and Behaviors Related to Obtaining and Discussing Family Health History: A Sex-Based Comparison Among Young Adults.

    Science.gov (United States)

    Smith, Matthew Lee; Beaudoin, Christopher E; Sosa, Erica T; Pulczinski, Jairus C; Ory, Marcia G; McKyer, E Lisako J

    2015-01-01

    Genetic predisposition is a risk factor for many chronic diseases, yet little is known about the frequency in which college students seek out their family health history or with whom they communicate relevant information. This study examines motivations and barriers associated with obtaining one's family health history and discussing it with others. Data were analyzed from 625 college students using an internet-delivered questionnaire, which comprised of questions about intentions and motivations to obtain and share family health history as well as barriers encountered when obtaining family health history. Responses were bifurcated by participants' sex. Chi-squared and t statistics were used to identify response differences by sex. Females were significantly more likely than males to be motivated to obtain their family health history, and more likely to have shared their family health history with others; state that they would share their family health history with others; and express a preference for sharing their family health history with a wider range of people. Educational interventions and improved student health services could be effective mechanisms to increase college students' knowledge, awareness, and perceived importance of obtaining their family health history.

  1. Combined association of maternal and paternal family history of diabetes with plasma leptin and adiponectin in overweight Hispanic children.

    Science.gov (United States)

    Koebnick, C; Kelly, L A; Lane, C J; Roberts, C K; Shaibi, G Q; Toledo-Corral, C M; Davis, J N; Weigensberg, M J; Goran, M I

    2008-09-01

    To investigate the importance of a maternal and paternal family history of Type 2 diabetes and their combined association with plasma leptin and adiponectin levels in overweight Latino children with a family history of Type 2 diabetes (T2DM). This cross-sectional study investigated the combined association of a maternal and paternal family history of T2DM with leptin and adiponectin in 175 overweight Latino children (age 11.1 +/- 1.7 years). All subjects had a family history of T2DM. Plasma adiponectin and leptin levels, body fat measured by dual-energy X-ray absorptiometry, Tanner stage, age and insulin sensitivity were assessed. After adjustment for age, gestational diabetes, insulin sensitivity and body fat, a combined maternal and paternal family history of T2DM was associated with higher leptin concentrations (P = 0.004) compared with a maternal or paternal family history alone. This association was most pronounced at Tanner stage 1 (P for interaction family history x tanner stage = 0.022). The presence of a combined maternal and paternal family history of T2DM accounted for 4% (P = 0.003) of the variation in leptin concentrations. No such combined association was observed for adiponectin levels. Maternal and paternal family history of T2DM may have an additive impact on leptin, but not on adiponectin levels independent of adiposity and insulin sensitivity in overweight Latino children. This may contribute to a further clinically relevant deterioration of metabolic health in this population.

  2. Evidence for the functional involvement of members of the TRP channel family in the uptake of Na(+) and NH4 (+) by the ruminal epithelium.

    Science.gov (United States)

    Rosendahl, Julia; Braun, Hannah S; Schrapers, Katharina T; Martens, Holger; Stumpff, Friederike

    2016-08-01

    Large quantities of protein are degraded in the fermentative parts of the gut to ammonia, which is absorbed, detoxified to urea, and excreted, leading to formation of nitrogenous compounds such as N2O that are associated with global warming. In ruminants, channel-mediated uptake of NH4 (+) from the rumen predominates. The molecular identity of these channels remains to be clarified. Ruminal cells and epithelia from cows and sheep were investigated using patch clamp, Ussing chamber, microelectrode techniques, and qPCR. In patch clamp experiments, bovine ruminal epithelial cells expressed a conductance for NH4 (+) that could be blocked in a voltage-dependent manner by divalent cations. In the native epithelium, NH4 (+) depolarized the apical potential, acidified the cytosol and induced a rise in short-circuit current (I sc) that persisted after the removal of Na(+), was blocked by verapamil, enhanced by the removal of divalent cations, and was sensitive to certain transient receptor potential (TRP) channel modulators. Menthol or thymol stimulated the I sc in Na(+) or NH4 (+) containing solutions in a dose-dependent manner and modulated transepithelial Ca(2+) fluxes. On the level of messenger RNA (mRNA), ovine and bovine ruminal epithelium expressed TRPA1, TRPV3, TRPV4, TRPM6, and TRPM7, with any expression of TRPV6 marginal. No bands were detected for TRPV1, TRPV5, or TRPM8. Functional and molecular biological data suggest that the transport of NH4 (+), Na(+), and Ca(2+) across the rumen involves TRP channels, with TRPV3 and TRPA1 emerging as prime candidate genes. TRP channels may also contribute to the transport of NH4 (+) across other epithelia.

  3. Relationship between family history of alcohol addiction, parents’ education level, and smartphone problem use scale scores

    Science.gov (United States)

    Beison, Ashley; Rademacher, David J.

    2017-01-01

    Background and aims Smartphones are ubiquitous. As smartphones increased in popularity, researchers realized that people were becoming dependent on their smartphones. The purpose here was to provide a better understanding of the factors related to problematic smartphone use (PSPU). Methods The participants were 100 undergraduates (25 males, 75 females) whose ages ranged from 18 to 23 (mean age = 20 years). The participants completed questionnaires to assess gender, ethnicity, year in college, father’s education level, mother’s education level, family income, age, family history of alcoholism, and PSPU. The Family Tree Questionnaire assessed family history of alcoholism. The Mobile Phone Problem Use Scale (MPPUS) and the Adapted Cell Phone Addiction Test (ACPAT) were used to determine the degree of PSPU. Whereas the MPPUS measures tolerance, escape from other problems, withdrawal, craving, and negative life consequences, the ACPAT measures preoccupation (salience), excessive use, neglecting work, anticipation, lack of control, and neglecting social life. Results Family history of alcoholism and father’s education level together explained 26% of the variance in the MPPUS scores and 25% of the variance in the ACPAT scores. The inclusion of mother’s education level, ethnicity, family income, age, year in college, and gender did not significantly increase the proportion of variance explained for either MPPUS or ACPAT scores. Discussion and conclusions Family history of alcoholism and father’s education level are good predictors of PSPU. As 74%–75% of the variance in PSPU scale scores was not explained, future studies should aim to explain this variance. PMID:28316252

  4. The influence of family history on prostate cancer risk : implications for clinical management

    NARCIS (Netherlands)

    Madersbacher, Stephan; Alcaraz, Antonio; Emberton, Mark; Hammerer, Peter; Ponholzer, Anton; Schroeder, Fritz H.; Tubaro, Andrea

    A family history of prostate cancer has long been identified as an important risk factor for developing the disease. This risk factor can be easily assessed in clinical practice and current guidelines recommend to initiate prostate cancer early detection 5 years earlier (i.e. around the age of 40

  5. History from Children's Perspectives: Learning to Read and Write Historical Accounts Using Family Sources

    Science.gov (United States)

    Schmidt, Maria Auxiliadora; Garcia, Tania Maria F. Braga

    2010-01-01

    This paper presents the results of an investigation which was part of a project called "Recreating Histories". It is concerned with the analysis of historical narratives created by the children who participated in the project and an analysis of historical sources kept by families who live in Campina Grande do Sul (Brazil). It draws on…

  6. Family history and medical examination of occupationally exposed employees against ionizing radiation

    International Nuclear Information System (INIS)

    Heinemann, G.

    2000-01-01

    Searching for individual radiosensitivity could improve the quality of the medical examination of occupationally exposed employees and thus provide real protection of the individual against ionizing radiation. For this purpose genetic family history should be recorded by a skilled interviewer. (orig.) [de

  7. Family history predicts major adverse cardiovascular events (MACE) in young adults with psoriasis

    DEFF Research Database (Denmark)

    Egeberg, Alexander; Bruun, Louise E; Mallbris, Lotus

    2016-01-01

    BACKGROUND: Patients with psoriasis may have increased risk of major adverse cardiovascular (CV) events (MACE), and a family history of CV disease (CVD) is an independent risk factor for MACE. OBJECTIVE: We investigated the risk of first-time MACE in patients with psoriasis with or without a fami....... The findings call for increased focus on a family history of CVD in CV risk assessment of patients with psoriasis.......BACKGROUND: Patients with psoriasis may have increased risk of major adverse cardiovascular (CV) events (MACE), and a family history of CV disease (CVD) is an independent risk factor for MACE. OBJECTIVE: We investigated the risk of first-time MACE in patients with psoriasis with or without a family...... history of CVD. METHODS: Between January 1, 1997, and December 31, 2011, we identified 2,722,375 individuals, including 25,774 and 4504 patients with mild and severe psoriasis, through administrative registers. Incidence rate ratios were estimated by Poisson regression. RESULTS: Mean baseline age was 26...

  8. "Object Lesson": Using Family Heirlooms to Engage Students in Art History

    Science.gov (United States)

    Rose, Marice

    2012-01-01

    This first written assignment of the semester for the author's undergraduate introductory art history class--an essay where students describe and reflect upon the significance of a family heirloom--is instrumental in meeting class objectives. The author's objectives in this class are for students: (1) to broaden their conception of what art is…

  9. The importance of family history in young patients with endometrial cancer

    NARCIS (Netherlands)

    Berends, MJW; Kleibeuker, JH; de Vries, EGE; Mourits, MJE; Hollema, H; Pras, E; van der Zee, AGJ

    Endometrial cancer occurs primarily in postmenopausal women older than 60 years of age. Especially in young patients with endometrial cancer, a positive family history with respect to cancer and/or development of synchronous or metachronous tumors can be indicative of hereditary factors. One generic

  10. Personal Reflection: Reflections on a Family Health History Assignment for Undergraduate Public Health and Nursing Students

    Science.gov (United States)

    Rooks, Ronica N.; Ford, Cassandra

    2013-01-01

    This personal reflection describes our experiences with incorporating the scholarship of teaching and learning and problem-based techniques to facilitate undergraduate student learning and their professional development in the health sciences. We created a family health history assignment to discuss key concepts in our courses, such as health…

  11. The Influence of Smoking, Gender, and Family History on Colorectal Adenomas

    Directory of Open Access Journals (Sweden)

    Tracy Onega

    2010-01-01

    Full Text Available Evidence independently links smoking, family history, and gender with increased risk of adenomatous polyps. Using data from the New Hampshire Colonoscopy Registry (2004–2006, we examined the relation of combined risk factors with adenoma occurrence in 5,395 individuals undergoing screening colonoscopy. Self-reported data on smoking, family history and other factors were linked to pathology reports identifying adenomatous polyps and modeled with multiple logistic regression. In adjusted models a >15 pack-year smoking history increased the likelihood of an adenoma (OR=1.54, 95% CI 1.28–1.86, although ≤15 pack-years did not (OR=1.07, 95% CI 0.87–1.32. Gender-stratified models showed a significantly increased risk of adenoma at lower smoking exposure even for men (OR=1.32; 95% CI:1.00–1.76, but not for women (OR=0.85; 95% CI:0.61–1.14. An ordered logistic regression model of adenoma occurrence showed a smoking history of ≥15 pack-years associated with 61% higher odds of adenoma at successively larger size categories (95% CI 1.34–1.93. For individuals with a family history of colorectal cancer, smoking does not further increase the risk of adenomas. Smoking duration is linked to occurrence and size of adenoma, especially for men.

  12. The Influence of Smoking, Gender, and Family History on Colorectal Adenomas

    International Nuclear Information System (INIS)

    Onega, T.; Goodrich, M.; Dietrich, A.; Onega, T.; Goodrich, M.; Dietrich, A.; Butterly, L.; Butterly, L.

    2010-01-01

    Evidence independently links smoking, family history, and gender with increased risk of adenomatous polyps. Using data from the New Hampshire Colonoscopy Registry (2004-2006), we examined the relation of combined risk factors with adenoma occurrence in 5,395 individuals undergoing screening colonoscopy. Self-reported data on smoking, family history and other factors were linked to pathology reports identifying adenomatous polyps and modeled with multiple logistic regression. In adjusted models a >15 pack-year smoking history increased the likelihood of an adenoma (OR=1.54 , 95% CI 1.28-1.86), although ≤15 pack-years did not (OR=1.07, 95% CI 0.87-1.32). Gender-stratified models showed a significantly increased risk of adenoma at lower smoking exposure even for men ( OR = 1.32; 95% CI:1.00-1.76. but not for women (OR = 0.85; 95% CI:0.61-1.14). An ordered logistic regression model of adenoma occurrence showed a smoking history of ≥15 pack-years associated with 61% higher odds of adenoma at successively larger size categories (95% CI 1.34-1.93). For individuals with a family history of colorectal cancer, smoking does not further increase the risk of adenomas. Smoking duration is linked to occurrence and size of adenoma, especially for men.

  13. The Relationship between Attitudes toward Suicide and Family History of Suicide in Nagano Prefecture, Japan.

    Science.gov (United States)

    Tsukahara, Teruomi; Arai, Hiroaki; Kamijo, Tomoko; Kobayashi, Yoshikiyo; Washizuka, Shinsuke; Arito, Heihachiro; Nomiyama, Tetsuo

    2016-06-22

    Certain attitudes toward suicide may be a risk factor for suicide among the bereaved. To explore this possibility, we examined the relationship between attitudes toward suicide and family history of suicide. We focused on two specific attitudes indicating resignation in a survey: #1 "When a person chooses to die by suicide, the suicide is inevitable" (i.e., inevitability belief); and #2 "A suicide cannot be stopped by any person, because suicide is unpreventable" (i.e., unpreventable belief). The data of 5117 fully completed questionnaires were analyzed. Logistic regression analysis revealed that the two attitudes of resignation were significantly associated with a family history of suicide. The adjusted odds ratio for #1 was 1.39 (95% CI, 1.07-1.79) for individuals having experienced suicide by a family member or relative, while that for #2 was 1.57 (95% CI, 1.27-1.95) for experiencing a suicide by a family member or relative and 1.25 (95% CI, 1.05-1.49) for experiencing a suicide by a friend, business associate, partner or other. These two attitudes of resignation toward suicide were significantly associated with a family history of suicide. These attitudes might increase suicide risk among the bereaved.

  14. Comparison of patients by family history with gastric and non-gastric cancer.

    Science.gov (United States)

    Zhou, Xue-Fu; He, Yu-Long; Song, Wu; Peng, Jian-Jun; Zhang, Chang-Hua; Li, Wen; Wu, Hui

    2009-06-07

    To compare the gastric cancer (GC) patients by their family history with gastric and non-GC. Positive family histories within second-degree relatives and clinicopathological features were obtained for 256 patients. Of the 256 probands, 112 (76 male, 36 female) were incorporated into familial GC (FGC) group: at least two GC members; 144 (98 male, 46 female) were included in the non-FGC group (relatives only affected with non-GCs). Of 399 tumors in relatives (181 from FGC against 212 from non-FGC), GC was the most frequent, followed by esophageal, hepatocellular, and colorectal cancer. Nasopharyngeal cancer was next to lung cancer but prior to breast and urogenital cancers. Most affected members aggregated within first-degree relatives (FGC: 66 siblings, 48 fathers, 31 mothers, four offspring; non-FGC: 56 fathers, 55 siblings, 43 mothers, and 15 offspring). The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a slight risk for GC in males (OR = 1.19, 95% CI: 0.53-2.69), while risk of GC by maternal history of non-GCs was increased in females (OR = 0.46, 95% CI: 0.22-0.97). Diffuse-GC was the major histological type in all subgroups. Difference in tumor sites between the two groups was derived from an excess of upper sites in non-FGC female probands. Distribution of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families, and a certain subtype may be inherited in a female-influenced fashion.

  15. Family history of type 2 diabetes, abdominal adipocyte size and markers of the metabolic syndrome.

    Science.gov (United States)

    Anthanont, P; Ramos, P; Jensen, M D; Hames, K C

    2017-11-01

    A major risk factor of type 2 diabetes mellitus (T2DM) is a positive family history of diabetes. First degree relatives (FDR) of patients with T2DM are more insulin resistant and are reported to have larger abdominal subcutaneous adipocytes than adults without a family history. Our objectives were to assess whether FDR of T2DM are associated with larger abdominal adipocytes independent of age, sex and abdominal subcutaneous fat and to assess whether a family history of T2DM is also independently related to femoral adipocyte size, as well as visceral fat and fasting plasma triglyceride (TG) concentrations. We extracted adipocyte size, body composition, plasma TG and demographic data of non-diabetic research participants of previous studies conducted in our laboratory. We ascertained the family history of T2DM from the electronic medical records. Multivariate regression analysis was used to assess whether FDR of T2DM are more likely to have other risk factors after adjusting for known covariates. Of 604 participants, 148 were FDR of T2DM. Although abdominal and femoral adipocyte size was greater in FDR of T2DM than those without a family history (0.74±0.33 vs 0.63±0.33 μg lipid per cell, Phistory of T2DM was a significant predictor of abdominal adipocyte size after adjustment for age and body fat distribution parameters in females (total R 2 =0.5, Phistory of T2DM was not independently predictive of femoral adipocyte size, visceral fat area or TG. Female FDR of T2DM have larger abdominal, but not femoral, adipocytes, even after accounting for age and body fat distribution.

  16. Phenomenology, psychiatric comorbidity and family history in referred preschool children with obsessive-compulsive disorder

    Directory of Open Access Journals (Sweden)

    Coskun Murat

    2012-11-01

    Full Text Available Abstract Objective The study aimed to investigate phenomenology, psychiatric comorbidity, and family history of obsessive-compulsive disorder (OCD in a clinical sample of normally developing preschool children with OCD. Method Subjects in this study were recruited from a clinical sample of preschool children (under 72 months of age who were referred to a university clinic. Subjects with a normal developmental history and significant impairment related to OCD symptoms were included in the study. Children’s Yale-Brown Obsessive-Compulsive Scale was used to assess OCD symptoms. Each subject was assessed for comorbid DSM-IV psychiatric disorders using a semi-structured interview. Parents were evaluated for lifetime history of OCD in individual sessions. Results Fifteen boys and ten girls (age range: 28 to 69 months; 54.12±9.08 months were included. Mean age of onset of OCD was 35.64±13.42 months. All subjects received at least one comorbid diagnosis. The most frequent comorbid disorders were non-OCD anxiety disorders (n=17; 68.0%, attention-deficit hyperactivity disorder (ADHD (n=15; 60.0%, oppositional defiant disorder (ODD (n=12; 48.0%, and tic disorders (n=6; 24.0%. Mean number of comorbid disorders was 3.65 and 2.35 for boys and girls, respectively. At least one parent received lifetime OCD diagnosis in 68 percent of the subjects. Conclusions The results indicated that OCD in referred preschool children is more common in males, highly comorbid with other psychiatric disorders, and associated with high rates of family history of OCD. Given the high rates of comorbidity and family history, OCD should be considered in referred preschool children with disruptive behavior disorders and/or with family history of OCD.

  17. Increased Risk of Physical Punishment among Enuretic Children with Family History of Enuresis.

    Science.gov (United States)

    Sá, Cacilda Andrade; Gusmão Paiva, Ana Carolina; de Menezes, Maria Clotilde Lima Bezerra; de Oliveira, Liliana Fajardo; Gomes, Carlos Augusto; de Figueiredo, André Avarese; de Bessa, José; Netto, José Murillo B

    2016-04-01

    Some parents blame their children for bedwetting and, therefore, punish them. This study aimed to assess the rate of punishment experienced by enuretic children and associated causative factors. A total of 87 children 6 to 15 years old with monosymptomatic enuresis were assessed individually. Parents answered the questions in the tolerance scale. The forms of punishment were classified as verbal, chastisement and physical aggression. Family history of enuresis was considered only when 1 or both parents had experienced enuresis. Of the 35 girls and 52 boys with a mean ± SD age of 9.3 ± 2.3 years 67 had a family history of enuresis. Of the 67 parents 57 (85.0%) had a history of being punished due to enuresis. All children experienced some sort of verbal punishment. Children who had a family history of enuresis were more prone to being punished by physical aggression than those without such a family history (32 of 67 or 47.8% vs 4 of 20 or 20%, OR 3.7, 95% CI 1.1-12.1, p = 0.03). Punishment was found 3 times more frequently in girls than in boys (20 of 35 or 57.1% vs 16 of 52 or 30.8%, OR 3.0, 95% CI 1.2-7.3). Parents of 79 of the 87 children (90.8%) had high scores on the tolerance scale regardless of the history of enuresis. Enuretic children are at a high risk for experiencing some kind of punishment. Children whose parents had enuresis are at risk for being physically punished. Parents should be taught about the involuntary nature of enuresis and the fact that no punishment would help improve the condition. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Risk of herpes zoster and family history: A Meta-analysis of case–control studies

    Directory of Open Access Journals (Sweden)

    Yi Chun Lai

    2016-01-01

    Full Text Available Background: Herpes zoster (HZ results from the reactivation of latent varicella zoster virus (VZV residing in dorsal root and cranial nerve ganglia. Advanced age and dysfunctional cell-mediated immune responses are well-established risk factors for VZV reactivation. There have been recent interests in whether there is an increased risk of the disease associated with a positive family history. Aims and Objectives: We aimed to conduct a meta-analysis to evaluate the association between HZ infection and family history. In addition, we investigated the dose-response relationship between HZ infection and the number of relatives with a history of HZ. Materials and Methods: Observational studies were searched from MEDLINE, EMBASE, and Cochrane Central Register from inception to April 15, 2015. The Meta-analysis of Observational Studies in Epidemiology guidelines were followed in conducting this study. To estimate the pooled odds ratio, random-effects model of DerSimonian and Laird was used. Heterogeneity between studies was assessed using the I2 statistic. A dose-response meta-analysis with studies that reported appropriate data were done using the generalized least squares for trend method. Results: Five studies, yielding a total of 4169 subjects, were identified for meta-analysis. Cases with HZ were 3.03 (95% confidence interval [CI]: 1.86–4.94, P < 0.001 and 3.27 (95% CI: 1.75–6.10, P < 0.001 times more likely to report the first-degree relatives and total relatives with a history of HZ, respectively. A significant positive dose-response relationship between the risk of HZ infection and the number of relatives with a history of HZ was also demonstrated (P < 0.001. Conclusions: This meta-analysis demonstrated that family history is a significant risk factor for HZ infection. This risk has a dose-response relationship with the number of relatives with a history of HZ.

  19. Family History

    Science.gov (United States)

    ... Susco Chair of Research North Shore University Hospital, Brain Aneurysm Center Chair of Research The Christopher C. Getch, MD Chair of Research Carol W. Harvey Memorial Chair of Research Kristen’s Legacy of Love Chair of Research TeamCindy Alcatraz Chair of Research ...

  20. Personal and family history of cancer and the risk of Barrett's esophagus in men.

    Science.gov (United States)

    Khalaf, N; Ramsey, D; Kramer, J R; El-Serag, H B

    2015-04-01

    The association between Barrett's esophagus (BE) and a personal or family history of cancer other than gastroesophageal remains unknown. To evaluate the effect of personal and family history of certain cancers and cancer treatments on the risk of BE, we analyzed data from a Veterans Affairs case-control study that included 264 men with definitive BE (cases) and 1486 men without BE (controls). Patients with history of esophageal or gastric cancer were excluded. Patients underwent elective esophagogastroduodenoscopy or a study esophagogastroduodenoscopy concurrently with screening colonoscopy to determine BE status. Personal and family history of several types of cancer was obtained from self-reported questionnaires, supplemented and verified by electronic medical-record reviews. We estimated the association between personal and family history of cancer or radiation/chemotherapy, and BE. Personal history of oropharyngeal cancer (1.5% vs. 0.4%) or prostate cancer (7.2% vs. 4.4%) was more frequently present in cases than controls. The association between BE and prostate cancer persisted in multivariable analyses (adjusted odds ratio 1.90; 95% confidence interval 1.07-3.38, P = 0.028) while that with oropharyngeal cancer (adjusted odds ratio 3.63; 95% confidence interval 0.92-14.29, P = 0.066) was attenuated after adjusting for retained covariates of age, race, gastroesophageal reflux disease, hiatal hernia, and proton pump inhibitor use. Within the subset of patients with cancer, prior treatment with radiation or chemotherapy was not associated with BE. There were no significant differences between cases and controls in the proportions of subjects with several specific malignancies in first- or second-degree relatives. In conclusion, the risk of BE in men may be elevated with prior personal history of oropharyngeal or prostate cancer. However, prior cancer treatments and family history of cancer were not associated with increased risk of BE. Further studies are needed

  1. Pilot Trial of an Electronic Family Medical History in US Faith-Based Communities.

    Science.gov (United States)

    Newcomb, Patricia; Canclini, Sharon; Cauble, Denise; Raudonis, Barbara; Golden, Paulette

    2014-07-01

    In spite of the acknowledged importance of collecting family health information, methods of collecting, organizing, and storage of pedigree data are not uniformly utilized in practice, though several electronic tools have been developed for the purpose. Using electronic tools to gather health information may empower individuals to take responsibility in managing their family health history. The purpose of this study was to describe the feasibility and outcomes of introducing small groups to the My Family Health Portrait tool in faith-based communities using faith community nurses (FCNs). This pilot project adopted a mixed methods approach to assess the potential of an educational intervention delivered by FCNs for increasing the use of electronic technologies for organizing and storing family health histories among the general public. Treatment and control groups were recruited from four faith-based communities in north Texas using a parallel-groups quasi-experimental design. Qualitative data were gleaned from field notes made by investigators interacting with FCNs and observing their teaching. A majority of respondents believed that knowing one's health history and passing it on to family and medical personnel is important. Those receiving face-to-face instruction on the electronic tool were significantly more likely to have written down family health information than the control group who received only an informational handout (χ(2) = 5.96, P = .015). Barriers to teaching about and using the electronic tool included FCNs' lack of facility with computers in the educational context and FCN and respondent mistrust of electronic storage for family health information. © The Author(s) 2014.

  2. The modern Chinese family in light of economic and legal history.

    Science.gov (United States)

    Huang, Philip C C

    2011-01-01

    Most social science theory and the currently powerful Chinese ideology of modernizationism assume that, with modern development, family-based peasant farm production will disappear, to be replaced by individuated industrial workers and the three-generation family by the nuclear family. The actual record of China’s economic history, however, shows the powerful persistence of the small family farm, as well as of the three-generation family down to this day, even as China’s GDP becomes the second largest in the world. China’s legal system, similarly, encompasses a vast informal sphere, in which familial principles operate more than individualist ones. And, in between the informal-familial and the formal-individualist, there is an enormous intermediate sphere in which the two tendencies are engaged in a continual tug of war. The economic behavior of the Chinese family unit reveals great contrasts with what is assumed by conventional economics. It has a different attitude toward labor from that of both the individual worker and the capitalist firm. It also has a different structural composition, and a different attitude toward investment, children’s education, and marriage. Proper attention to how Chinese modernity differs socially, economically, and legally from the modern West points to the need for a different kind of social science; it also lends social–economic substance to claims for a modern Chinese culture different from the modern West’s.

  3. The impact of a family history of hearing problems on those with hearing difficulties themselves: an exploratory study

    NARCIS (Netherlands)

    Stephens, D.; Kramer, S.E.

    2005-01-01

    The objective of the study was to investigate the effects of a family history of hearing impairment on those people with the hearing impairment themselves. The subjects were 102 consecutive patients with a family history of hearing impairment, seen in an audiological rehabilitation clinic. Each was

  4. Role of Family Resources and Paternal History of Substance Use Problems in Psychosocial Adjustment among School-Aged Children

    Science.gov (United States)

    Peleg-Oren, Neta; Rahav, Giora; Teichman, Meir

    2009-01-01

    The present study examines the role of family resources (parenting style and family cohesion) and paternal history of substance abuse on the psychosocial adjustment of their school-aged children. Data were collected from 148 children aged 8-11 (72 of fathers with history of substance use disorder, 76 children of fathers with no substance use…

  5. The joint impact of family history of myocardial infarction and other risk factors on 12-year coronary heart disease mortality

    NARCIS (Netherlands)

    Boer, J M; Feskens, E.J.; Verschuren, W M Monique; Seidell, J C; Kromhout, D.

    1999-01-01

    We investigated the impact of family history of myocardial infarction on 12-year coronary heart disease mortality. Men and women with a family history had an increased risk for coronary heart disease death, irrespective of other risk factors (RR = 1.58; 95% CI = 1.17-2.13 and RR = 2.12; 95% CI =

  6. Availability and quality of coronary heart disease family history in primary care medical records: implications for cardiovascular risk assessment.

    Directory of Open Access Journals (Sweden)

    Paula Dhiman

    Full Text Available The potential to use data on family history of premature disease to assess disease risk is increasingly recognised, particularly in scoring risk for coronary heart disease (CHD. However the quality of family health information in primary care records is unclear.To assess the availability and quality of family history of CHD documented in electronic primary care records.Cross-sectional study.537 UK family practices contributing to The Health Improvement Network database.Data were obtained from patients aged 20 years or more, registered with their current practice between 1(st January 1998 and 31(st December 2008, for at least one year. The availability and quality of recorded CHD family history was assessed using multilevel logistic and ordinal logistic regression respectively.In a cross-section of 1,504,535 patients, 19% had a positive or negative family history of CHD recorded. Multilevel logistic regression showed patients aged 50-59 had higher odds of having their family history recorded compared to those aged 20-29 (OR:1.23 (1.21 to 1.25, however most deprived patients had lower odds compared to those least deprived (OR: 0.86 (0.85 to 0.88. Of the 140,058 patients with a positive family history recorded (9% of total cohort, age of onset was available in 45%; with data specifying both age of onset and relative affected available in only 11% of records. Multilevel ordinal logistic regression confirmed no statistical association between the quality of family history recording and age, gender, deprivation and year of registration.Family history of CHD is documented in a small proportion of primary care records; and where positive family history is documented the details are insufficient to assess familial risk or populate cardiovascular risk assessment tools. Data capture needs to be improved particularly for more disadvantaged patients who may be most likely to benefit from CHD risk assessment.

  7. Availability and quality of coronary heart disease family history in primary care medical records: implications for cardiovascular risk assessment.

    Science.gov (United States)

    Dhiman, Paula; Kai, Joe; Horsfall, Laura; Walters, Kate; Qureshi, Nadeem

    2014-01-01

    The potential to use data on family history of premature disease to assess disease risk is increasingly recognised, particularly in scoring risk for coronary heart disease (CHD). However the quality of family health information in primary care records is unclear. To assess the availability and quality of family history of CHD documented in electronic primary care records. Cross-sectional study. 537 UK family practices contributing to The Health Improvement Network database. Data were obtained from patients aged 20 years or more, registered with their current practice between 1(st) January 1998 and 31(st) December 2008, for at least one year. The availability and quality of recorded CHD family history was assessed using multilevel logistic and ordinal logistic regression respectively. In a cross-section of 1,504,535 patients, 19% had a positive or negative family history of CHD recorded. Multilevel logistic regression showed patients aged 50-59 had higher odds of having their family history recorded compared to those aged 20-29 (OR:1.23 (1.21 to 1.25)), however most deprived patients had lower odds compared to those least deprived (OR: 0.86 (0.85 to 0.88)). Of the 140,058 patients with a positive family history recorded (9% of total cohort), age of onset was available in 45%; with data specifying both age of onset and relative affected available in only 11% of records. Multilevel ordinal logistic regression confirmed no statistical association between the quality of family history recording and age, gender, deprivation and year of registration. Family history of CHD is documented in a small proportion of primary care records; and where positive family history is documented the details are insufficient to assess familial risk or populate cardiovascular risk assessment tools. Data capture needs to be improved particularly for more disadvantaged patients who may be most likely to benefit from CHD risk assessment.

  8. Medical conditions, family history of cancer, and the risk of biliary tract cancers.

    Science.gov (United States)

    Rosato, Valentina; Bosetti, Cristina; Dal Maso, Luigino; Montella, Maurizio; Serraino, Diego; Negri, Eva; La Vecchia, Carlo

    2016-06-02

    Scanty data exist on the role of personal medical conditions, except for gallstones, and family history of cancer on the risk of biliary tract cancers (BTC). We analyzed this issue using data from two Italian case-control studies, including 159 cases of BTC and 795 matched hospital controls. Odds ratios (ORs) of BTC and corresponding 95% confidence intervals (CIs) were estimated using multiple logistic regression models. Gallstones were associated with a 2-fold excess risk of BTC (95% CI 1.24-3.45). No significant associations were observed with other conditions investigated, including diabetes (OR 1.15, 95% CI 0.63-2.11), hypertension (OR 0.65, 95% CI 0.39-1.11), hyperlipidemia (OR 0.61, 95% CI 0.31-1.21), allergy (OR 0.64, 95% CI 0.29-1.40), gastroduodenal ulcer (OR 0.52, 95% CI 0.24-1.12), hepatitis (OR 2.02, 95% CI 0.35-11.67), benign thyroid diseases (OR 1.16, 95% CI 0.56-2.40), hysterectomy (OR 1.19, 95% CI 0.53-2.68), unilateral oophorectomy (OR 1.75, 95% CI 0.44-6.93), and bilateral oophorectomy (OR 2.48, 95% CI 0.79-7.82). We found an excess risk of BTC in relation to family history of any cancer (OR 1.52, 95% CI 1.03-2.24) and family history of gallbladder cancer (OR 3.83, 95% CI 0.59-24.75). The present study confirms a strong association between BTC and history of gallstones, and provides further evidence of a positive association with family history of cancer.

  9. Risk factors for colorectal cancer in subjects with family history of the disease.

    Science.gov (United States)

    Fernandez, E; La Vecchia, C; D'Avanzo, B; Negri, E; Franceschi, S

    1997-01-01

    The relationship between lifestyle factors, past medical conditions, daily meal frequency, diet and the risk of 'familial' colorectal cancer has been analysed using data from a case-control study conducted in northern Italy. A total of 1584 colorectal cancer patients and 2879 control subjects were admitted to a network of hospitals in the Greater Milan area and the Pordenone province. The subjects included for analysis were the 112 cases and the 108 control subjects who reported a family history of colorectal cancer in first-degree relatives. Colorectal cancer cases and control subjects with family history were similarly distributed according to sex, age, marital status, years of schooling and social class. Familial colorectal cancer was associated with meal frequency, medical history of diabetes (relative risk, RR = 4.6) and cholelithiasis (RR = 5.2). Significant positive trends of increasing risk with more frequent consumption were observed for pasta (RR = 2.5, for the highest vs the lowest intake tertile), pastries (RR = 2.4), red meat (RR = 2.9), canned meat (RR = 1.9), cheese (RR = 3.5) and butter (RR = 1.9). Significant inverse associations and trends in risk were observed for consumption of poultry (RR = 0.4), tomatoes (RR = 0.2), peppers (RR = 0.3) and lettuce (RR = 0.3). Significant inverse trends in risk with increasing consumption for beta-carotene and ascorbic acid were observed (RR = 0.5 and 0.4 respectively, highest vs lowest intake tertile). These results suggest that risk factors for subjects with a family history of colorectal cancer in first-degree relatives are not appreciably different from recognized risk factors of the disease in the general population.

  10. Relationship of family history and outcome after breast conservation therapy in women with ductal carcinoma in situ of the breast

    International Nuclear Information System (INIS)

    Harris, Eleanor E.R.; Schultz, Delray J.; Peters, Christopher A.; Solin, Lawrence J.

    2000-01-01

    Purpose: The purpose of this study was to evaluate the relationship between a family history of breast or ovarian cancer and outcome after breast-conserving surgery and radiation in women presenting with an initial diagnosis of ductal carcinoma in situ (DCIS) of the breast. Methods and Materials: A total of 146 consecutive women with a pathologic diagnosis of ductal carcinoma in situ as their first diagnosis of any breast cancer were identified; 28 (19%) had a positive family history of breast or ovarian cancer in a first-degree relative, 27 (19%) had a positive family history in a second-degree relative, and 91 (62%) had no family history. Pathologic, clinical, and treatment factors, and clinical outcomes for each family history group were compared. Cosmesis and complications were recorded at each follow-up. Patients were treated between 1978 and 1995, and the median follow-up was 7.1 years. Results: Patients with a positive family history in a first- or second-degree relative each had an 8% incidence of local failure at 10 years, while the negative family history group demonstrated a 16% local failure rate (p = 0.33). Overall survival at 10 years for patients with a positive family history in a first- or second-degree relative was 100% and for those with a negative family history was 91% (p = 0.08). The negative family history group had a higher median age that may account for the difference in overall survival. Cause-specific survival (CSS) was 97%, 100%, and 99%, respectively, at 10 years (p = 0.25). There were no differences in the cosmetic results or complication rates between women with a positive or negative family history. Conclusion: We have shown that a family history of breast and/or ovarian cancer is not associated with an adverse outcome for women treated with breast conservation therapy for DCIS. Local recurrence, cause-specific survival, overall survival, cosmesis, and complication rates were comparable to that of similarly treated women with

  11. Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes

    DEFF Research Database (Denmark)

    Eliraqi, G M; Vistisen, D; Lauritzen, T

    2015-01-01

    Aim To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Methods Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients...... pressure, lipids and HbA1c) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age...... with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood...

  12. Family history as a predictor of hospitalization for hypertension in Sweden.

    Science.gov (United States)

    Westerdahl, Christina; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt

    2013-10-01

    Hypertension clusters in families. However, no nationwide study has investigated the family history as a predictor of hospitalization for hypertension, which was the purpose of this study. The study is a nationwide follow-up study. Swedish Multigeneration Register data for individuals aged 0-76 years were linked to Hospital Discharge Register data for 1964-2008. Standardized incidence ratios (SIRs) were calculated for individuals whose relatives were hospitalized with a main diagnosis of hypertension compared with those whose relatives were not. The total number of patients hospitalized with hypertension was 37,686. The familial SIR was 2.18 for individuals with one affected sibling, 44.83 for individuals with two affected siblings and 57.18 for individuals with three or more affected siblings. The SIR was 1.95 for parents with one affected child, 3.73 for parents with two affected children and 9.22 for parents with three or more affected children. The familial SIR among offspring was 1.84 for those with one affected parent and 3.62 for those with two affected parents. The familial risk for hospitalization with hypertension among offspring aged less than 30 years was 2.50 and 1.57 in those aged more than 60 years. Familial risks were similar for men and women. Spouses had low overall familial risks (SIR=1.2). Hospitalization for hypertension clusters in families. Very high risks were observed in families with multiple affected siblings, though the parent-offspring transmission was lower, suggesting the segregation of recessive or interacting susceptibility genes. The low familial risk in spouses suggests a minor nongenetic contribution.

  13. New technologies applied to family history: a particular case of southern Europe in the eighteenth century.

    Science.gov (United States)

    García, Manuel Pérez

    2011-01-01

    In this article, the author explains how the support of new technologies has helped historians to develop their research over the last few decades. The author, therefore, summarizes the application of both database and genealogical programs for the southern Europe family studies as a methodological tool. First, the author will establish the importance of the creation of databases using the File Maker program, after which they will explain the value of using genealogical programs such as Genopro and Heredis. The main aim of this article is to give detail about the use of these new technologies as applied to a particular study of southern Europe, specifically the Crown of Castile, during the late modern period. The use of these computer programs has helped to develop the field of social sciences and family history, in particular, social history, during the last decade.

  14. Prostate cancer risk prediction based on complete prostate cancer family history.

    Science.gov (United States)

    Albright, Frederick; Stephenson, Robert A; Agarwal, Neeraj; Teerlink, Craig C; Lowrance, William T; Farnham, James M; Albright, Lisa A Cannon

    2015-03-01

    Prostate cancer (PC) relative risks (RRs) are typically estimated based on status of close relatives or presence of any affected relatives. This study provides RR estimates using extensive and specific PC family history. A retrospective population-based study was undertaken to estimate RRs for PC based on complete family history of PC. A total of 635,443 males, all with ancestral genealogy data, were analyzed. RRs for PC were determined based upon PC rates estimated from males with no PC family history (without PC in first, second, or third degree relatives). RRs were determined for a variety of constellations, for example, number of first through third degree relatives; named (grandfather, father, uncle, cousins, brothers); maternal, paternal relationships, and age of onset. In the 635,443 males analyzed, 18,105 had PC. First-degree RRs ranged from 2.46 (=1 first-degree relative affected, CI = 2.39-2.53) to 7.65 (=4 first-degree relatives affected, CI = 6.28-9.23). Second-degree RRs for probands with 0 affected first-degree relatives ranged from 1.51 (≥1 second-degree relative affected, CI = 1.47-1.56) to 3.09 (≥5 second-degree relatives affected, CI = 2.32-4.03). Third-degree RRs with 0 affected first- and 0 affected second-degree relatives ranged from 1.15 (≥1 affected third-degree relative, CI = 1.12-1.19) to 1.50 (≥5 affected third-degree relatives, CI = 1.35-1.66). RRs based on age at diagnosis were higher for earlier age at diagnoses; for example, RR = 5.54 for ≥1 first-degree relative diagnosed before age 50 years (CI = 1.12-1.19) and RR = 1.78 for >1 second-degree relative diagnosed before age 50 years, CI = 1.33, 2.33. RRs for equivalent maternal versus paternal family history were not significantly different. A more complete PC family history using close and distant relatives and age at diagnosis results in a wider range of estimates of individual RR that are potentially more accurate than RRs estimated

  15. Validating the 5Fs mnemonic for cholelithiasis: time to include family history.

    LENUS (Irish Health Repository)

    Bass, Gary

    2013-11-01

    The time-honoured mnemonic of \\'5Fs\\' is a reminder to students that patients with upper abdominal pain and who conform to a profile of \\'fair, fat, female, fertile and forty\\' are likely to have cholelithiasis. We feel, however, that a most important \\'F\\'-that for \\'family history\\'-is overlooked and should be introduced to enhance the value of a useful aide memoire.

  16. Profiling Fast Healthcare Interoperability Resources (FHIR) of Family Health History based on the Clinical Element Models

    OpenAIRE

    Lee, Jaehoon; Hulse, Nathan C.; Wood, Grant M.; Oniki, Thomas A.; Huff, Stanley M.

    2017-01-01

    In this study we developed a Fast Healthcare Interoperability Resources (FHIR) profile to support exchanging a full pedigree based family health history (FHH) information across multiple systems and applications used by clinicians, patients, and researchers. We used previously developed clinical element models (CEMs) that are capable of representing the FHH information, and derived essential data elements including attributes, constraints, and value sets. We analyzed gaps between the FHH CEM ...

  17. [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.

  18. BRCA1 status in Pakistani breast cancer patients with moderate family history

    International Nuclear Information System (INIS)

    Moatter, T.; Pervez, S.; Khan, S.; Azam, I.

    2011-01-01

    Objective: To determine BRCA1 status in breast carcinoma patients of Pakistani origin. Study Design: Observational study. Place and Duration of Study: The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. Methodology: Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family history was defined as having a close relative (mother, daughter, sister) diagnosed with breast cancer under 45 years. Peripheral blood samples were collected from each patient in a 5 ml tube containing EDTA as anticoagulant. Subsequent to DNA extraction, mutational analysis of BRCA1 exons 2, 5, 6, 16, 20 and 22 was carried out using single strand conformation polymorphism (SSCP) assay while protein truncation test (PTT) was used to examine mutations in exon 11. All BRCA1 sequence variants were confirmed by DNA sequencing. Results: Twenty-three patients were diagnosed with early onset breast cancer, 30 patients had moderate family history. At the time of diagnosis, the median age of enrolled patients was 39 years (range 24-65 years). Out of 53 patients, analyzed by SSCP assay, mobility shift was detected in exon 6, 16 and 20 of three patients, whereas one patient was tested positive for mutation in exon 11 by PTT assays. All patients with BRCA1 mutations were further confirmed by DNA sequencing analysis. In exon 16 c.4837A > G was confirmed, which is a common polymorphism reported in several populations including Asians. Moreover, mutations in exon 6 (c.271T > G), exon 20 (c.5231 del G) and exon 11 (c.1123 T > G) were reported first time in the Pakistani population. Several BRCA1 mutations were observed in Pakistani breast cancer patients with moderate family history. Therefore, mutation-based genetic counselling for patients with moderate family history can facilitate management, if one first or second degree relative or early onset disease is apparent. (author)

  19. History of Animals using Isotope Records (HAIR): a 6-year dietary history of one family of African elephants.

    Science.gov (United States)

    Cerling, Thure E; Wittemyer, George; Ehleringer, James R; Remien, Christopher H; Douglas-Hamilton, Iain

    2009-05-19

    The dietary and movement history of individual animals can be studied using stable isotope records in animal tissues, providing insight into long-term ecological dynamics and a species niche. We provide a 6-year history of elephant diet by examining tail hair collected from 4 elephants in the same social family unit in northern Kenya. Sequential measurements of carbon, nitrogen, and hydrogen isotope rations in hair provide a weekly record of diet and water resources. Carbon isotope ratios were well correlated with satellite-based measurements of the normalized difference vegetation index (NDVI) of the region occupied by the elephants as recorded by the global positioning system (GPS) movement record; the absolute amount of C(4) grass consumption is well correlated with the maximum value of NDVI during individual wet seasons. Changes in hydrogen isotope ratios coincided very closely in time with seasonal fluctuations in rainfall and NDVI whereas diet shifts to relatively high proportions of grass lagged seasonal increases in NDVI by approximately 2 weeks. The peak probability of conception in the population occurred approximately 3 weeks after peak grazing. Spatial and temporal patterns of resource use show that the only period of pure browsing by the focal elephants was located in an over-grazed, communally managed region outside the protected area. The ability to extract time-specific longitudinal records on animal diets, and therefore the ecological history of an organism and its environment, provides an avenue for understanding the impact of climate dynamics and land-use change on animal foraging behavior and habitat relations.

  20. Neural Correlates of Impulsivity in Healthy Males and Females with Family Histories of Alcoholism

    Science.gov (United States)

    DeVito, Elise E; Meda, Shashwath A; Jiantonio, Rachel; Potenza, Marc N; Krystal, John H; Pearlson, Godfrey D

    2013-01-01

    Individuals family-history positive (FHP) for alcoholism have increased risk for the disorder, which may be mediated by intermediate behavioral traits such as impulsivity. Given the sex differences in the risk for and clinical presentation of addictive disorders, risk for addiction may be differentially mediated by impulsivity within FHP males and females. FHP (N=28) and family-history negative (FHN, N=31) healthy, non-substance-abusing adults completed an fMRI Go/No-Go task and were assessed on impulsivity and alcohol use. Effects of family history and sex were investigated as were associations between neural correlates of impulse control and out-of-scanner measures of impulsivity and alcohol use. FHP individuals showed greater activation in the left anterior insula and inferior frontal gyrus during successful inhibitions, an effect that was driven primarily by FHP males. Higher self-reported impulsivity and behavioral discounting impulsivity, but not alcohol use measures, were associated with greater BOLD signal in the region that differentiated the FHP and FHN groups. Impulsivity factors were associated with alcohol use measures across the FHP and FHN groups. These findings are consistent with increased risk for addiction among FHP individuals being conferred through disrupted function within neural systems important for impulse control. PMID:23584260

  1. A family history of Type 1 alcoholism differentiates alcohol consumption in high cortisol responders to stress.

    Science.gov (United States)

    Brkic, Sejla; Söderpalm, Bo; Söderpalm Gordh, Anna

    2015-03-01

    The differentiation between high and low cortisol responders to stress is of interest in determining the risk factors which may, along with genetic vulnerability, influence alcohol intake. Thirty-two healthy volunteers, family history positive to alcoholism (FHP, n = 16) and family history negative (FHN, n = 16) attended two laboratory sessions during which alcohol or placebo was offered. There were no differences in consumption of alcohol or placebo between FHP and FHN subjects. STUDY 2: Fifty-eight healthy social drinkers, FHP (n = 27) and FHN (n = 31) attended two laboratory sessions. They were administered either alcohol or placebo in both sessions they attended. All subjects underwent either a stress task (the Trier Social Stress Test, TSST) or a stress-free period, at two separate occasions, before being offered beverage. After the salivary cortisol analysis, subjects in each group were divided into high (HCR) or low (LCR) cortisol responders. After stress, subjects who were FHP-HCR consumed more alcohol than FHN-HCR. There were no differences in the placebo intake between FHP and FHN subjects regardless of their cortisol response. This result indicates that stress promotes alcohol consumption only in subjects with a family history of Type 1 alcoholism who show an increase in cortisol response to stress. This behaviour is similar to that previously observed in alcohol dependent individuals after stress and thus could represent an endophenotype posing a risk for future development of alcohol use disorders. Copyright © 2015. Published by Elsevier Inc.

  2. Family history of alcoholism and the human brain response to oral sucrose.

    Science.gov (United States)

    Eiler, William J A; Dzemidzic, Mario; Soeurt, Christina M; Carron, Claire R; Oberlin, Brandon G; Considine, Robert V; Harezlak, Jaroslaw; Kareken, David A

    2018-01-01

    A heightened hedonic response to sweet tastes has been associated with increased alcohol preference and alcohol consumption in both humans and animals. The principal goal of this study was to examine blood oxygenation level dependent (BOLD) activation to high- and low-concentration sweet solutions in subjects who are either positive (FHP) or negative (FHN) for a family history of alcoholism. Seventy-four non-treatment seeking, community-recruited, healthy volunteers (22.8 ± 1.6 SD years; 43% men) rated a range of sucrose concentrations in a taste test and underwent functional magnetic resonance imaging (fMRI) during oral delivery of water, 0.83 M, and 0.10 M sucrose. Sucrose compared to water produced robust activation in primary gustatory cortex, ventral insula, amygdala, and ventral striatum. FHP subjects displayed greater bilateral amygdala activation than FHN subjects in the low sucrose concentration (0.10 M). In secondary analyses, the right amygdala response to the 0.10 M sucrose was greatest in FHP women. When accounting for group differences in drinks per week, the family history groups remained significantly different in their right amygdala response to 0.10 M sucrose. Our findings suggest that the brain response to oral sucrose differs with a family history of alcoholism, and that this response to a mildly reinforcing primary reward might be an endophenotypic marker of alcoholism risk.

  3. Family history of alcoholism and the human brain response to oral sucrose

    Directory of Open Access Journals (Sweden)

    William J.A. Eiler, II

    2018-01-01

    Full Text Available A heightened hedonic response to sweet tastes has been associated with increased alcohol preference and alcohol consumption in both humans and animals. The principal goal of this study was to examine blood oxygenation level dependent (BOLD activation to high- and low-concentration sweet solutions in subjects who are either positive (FHP or negative (FHN for a family history of alcoholism. Seventy-four non-treatment seeking, community-recruited, healthy volunteers (22.8 ± 1.6 SD years; 43% men rated a range of sucrose concentrations in a taste test and underwent functional magnetic resonance imaging (fMRI during oral delivery of water, 0.83 M, and 0.10 M sucrose. Sucrose compared to water produced robust activation in primary gustatory cortex, ventral insula, amygdala, and ventral striatum. FHP subjects displayed greater bilateral amygdala activation than FHN subjects in the low sucrose concentration (0.10 M. In secondary analyses, the right amygdala response to the 0.10 M sucrose was greatest in FHP women. When accounting for group differences in drinks per week, the family history groups remained significantly different in their right amygdala response to 0.10 M sucrose. Our findings suggest that the brain response to oral sucrose differs with a family history of alcoholism, and that this response to a mildly reinforcing primary reward might be an endophenotypic marker of alcoholism risk.

  4. Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey.

    Science.gov (United States)

    Gramer, Gwendolyn; Gramer, Eugen; Weisschuh, Nicole

    2017-10-01

    Prospective evaluation of family history (FH) of glaucoma and FH of optic disc drusen (ODD) in patients with sonographically confirmed ODD. A total of 87 patients with ODD interviewed all their first-degree and second-degree relatives using a detailed questionnaire on whether an ophthalmologist had diagnosed or excluded glaucoma or ocular hypertension (OH). Using a second questionnaire, 62 of these patients also provided information about ODD in their FH. Control groups for FH of glaucoma consisted of 2170 patients with glaucoma or OH evaluated with the same methods and identical questions for FH of glaucoma in a previous study, and of 176 healthy individuals without glaucoma or ODD who were interviewed on family history of glaucoma. Glaucoma in FH was significantly more frequent in patients with ODD with an incidence of 20.7% compared with healthy controls with an incidence of 2.8%, and half as frequent as in glaucoma patients with an incidence of 40%. ODD in FH were found in 9.7% of patients with ODD. As there is a high frequency of family history of glaucoma in patients with ODD, evaluation of FH of ODD and FH of glaucoma is essential in patients with ODD. Glaucoma in FH of ODD patients requires intraocular pressure monitoring and whenever deemed beneficial timely initiation of intraocular pressure-lowering therapy.

  5. Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

    Science.gov (United States)

    Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E

    2018-02-01

    PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

  6. Family history of alcohol and drug abuse, childhood trauma, and age of first drug injection.

    Science.gov (United States)

    Taplin, Chris; Saddichha, Sahoo; Li, Kathy; Krausz, Michael R

    2014-08-01

    Childhood maltreatment may lead to development of future substance use; however the contributions of a family history of substance use is unclear. To better understand the relationship between childhood abuse, family history of alcohol and drug abuse, and injecting drug use initiation in a cohort of chronic opioid users. A cross-sectional survey of long-term and difficult to treat intravenous opiate users of the North American Opiate Medication Initiative (NAOMI) cohort was conducted in two Canadian cities (Vancouver and Montreal). For the analysis, we selected a subsample (n = 87) of the population reported experiencing childhood abuse and completed a 12-month follow up. The sample was 41.4% female and 14.9% First Nations, with a mean age of 38 years. This sample then completed the Childhood Trauma Questionnaire (CTQ) and the Addiction Severity Index (ASI) beside others. Maternal alcohol and drug use was significantly associated with childhood sexual abuse, emotional abuse, and physical neglect. Paternal alcohol and drug use was significantly associated with childhood physical abuse. Increased severity of all types of childhood trauma was related to an earlier age of first injection. CONCLUSIONS/IMPORTANCE: Family history of drug and alcohol use is strongly associated with childhood trauma, which may, in turn, lead to an earlier initiation to the dangerous routes of drug injection.

  7. Roots run deep: Investigating psychological mechanisms between history of family aggression and abusive supervision.

    Science.gov (United States)

    Garcia, Patrick Raymund James M; Restubog, Simon Lloyd D; Kiewitz, Christian; Scott, Kristin L; Tang, Robert L

    2014-09-01

    In this article, we examine the relationships between supervisor-level factors and abusive supervision. Drawing from social learning theory (Bandura, 1973), we argue that supervisors' history of family aggression indirectly impacts abusive supervision via both hostile cognitions and hostile affect, with angry rumination functioning as a first-stage moderator. Using multisource data, we tested the proposed relationships in a series of 4 studies, each providing evidence of constructive replication. In Study 1, we found positive relationships between supervisors' history of family aggression, hostile affect, explicit hostile cognitions, and abusive supervision. We obtained the same pattern of results in Studies 2, 3, and 4 using an implicit measure of hostile cognitions and controlling for previously established antecedents of abusive supervision. Angry rumination moderated the indirect relationship between supervisors' history of family aggression and abusive supervision via hostile affect only. Overall, the results highlight the important role of supervisor-level factors in the abusive supervision dynamics. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  8. Plasma homovanillic acid and family history of psychotic disorders in bipolar I patients.

    Science.gov (United States)

    Zumárraga, Mercedes; Dávila, Ricardo; Basterreche, Nieves; Arrue, Aurora; Goienetxea, Biotza; González-Torres, Miguel Angel; Guimón, José

    2009-04-01

    It has been suggested that the family history of psychotic disorders is useful in defining homogeneous groups of bipolar patients. The plasma homovanillic acid (pHVA) concentrations have been related to the effect of antipsychotic treatment in psychotic patients. We have studied the influence of a positive family history of psychotic disorders both on the variation of pHVA levels and on the relation between pHVA concentrations and the clinical response to treatment. Clinical status and pHVA levels were assessed in 58 medication free patients before and after 4 weeks of treatment with olanzapine and lithium. Clinical improvement correlated positively with pHVA levels on the 28th day of treatment only in the patients having first degree relatives with psychotic disorders. The pHVA levels did not decrease after 28 days of treatment. Our results reinforce the idea that a positive family history of psychosis in psychotic bipolar disorders may constitute a good basis for sub-grouping these patients.

  9. Family history of esophageal cancer increases the risk of esophageal squamous cell carcinoma

    Science.gov (United States)

    Chen, Tiantian; Cheng, Hongwei; Chen, Xingdong; Yuan, Ziyu; Yang, Xiaorong; Zhuang, Maoqiang; Lu, Ming; Jin, Li; Ye, Weimin

    2015-01-01

    A population-based case-control was performed to explore familial aggregation of esophageal squamous cell carcinoma (ESCC). Family history of cancer was assessed by a structured questionnaire, and from which 2 cohorts of relatives of cases and controls were reconstructed. Unconditional logistic regression and Cox proportional hazards regression were applied for case-control design and reconstructed cohort design, respectively. We observed a close to doubled risk of ESCC associated with a positive family history of esophageal cancer among first degree relatives (odds ratio [OR] = 1.85, 95% confidence interval [CI]: 1.42–2.41), after adjusting age, sex, family size and other confounders. The excess risks of ESCC increased with the increasing of first-degree relatives affected by esophageal cancer (p < 0.001). In particular, those individuals whose both parents with esophageal cancer had an 8-fold excess risk of ESCC (95% CI: 1.74–36.32). The reconstructed cohort analysis showed that the cumulative risk of esophageal cancer to age 75 was 12.2% in the first-degree relatives of cases and 7.0% in those of controls (hazard ratio = 1.91, 95% CI: 1.54–2.37). Our results suggest family history of esophageal cancer significantly increases the risk for ESCC. Future studies are needed to understand how the shared genetic susceptibility and/or environmental exposures contribute to the observed excess risk. PMID:26526791

  10. Parents' attachment histories and children's externalizing and internalizing behaviors: exploring family systems models of linkage.

    Science.gov (United States)

    Cowan, P A; Cowan, C P; Cohn, D A; Pearson, J L

    1996-02-01

    Twenty-seven mothers and 27 fathers were given the Adult Attachment Interview (M. Main & R. Goldwyn, in press) when their children were 3.5 years old. Continuous ratings of narrative coherence, probable experience quality (parents perceived as loving), and state of mind (current anger at parents) were entered as latent variables in partial least squares structural equation models that included observational measures of marital quality and parenting style. Models that include fathers' attachment histories predicted more variance in kindergarten teachers' descriptions of children's externalizing behavior, whereas models that include mothers' attachment histories predicted more variance in children's internalizing behavior. Marital data added predictive power to the equations. Discussion is focused on the importance of integrating attachment and family systems approaches, and of parents' gender and marital quality, in understanding specific links between parents' attachment histories and their young children's externalizing and internalizing behaviors.

  11. Sun protection practices among offspring of women with personal or family history of skin cancer.

    Science.gov (United States)

    Geller, Alan C; Brooks, Daniel R; Colditz, Graham A; Koh, Howard K; Frazier, A Lindsay

    2006-04-01

    Family history of skin cancer is an important determinant of skin cancer risk for offspring. No previous study of the effect of personal or family history of skin cancer on the sun protection behaviors of the offspring has been published. A retrospective study was conducted of the sun protection behaviors of the adolescent participants in the Growing Up Today Study (GUTS), who were offspring of mothers from the Nurses Health Study II. Adolescents' surveys were matched with their mothers' reports of a personal or family history of skin cancer and compared with adolescents whose mothers did not report a personal or family history of skin cancer. The outcome measures were (1) occurrence of frequent sunburns during the past summer, (2) use of a tanning bed during the past year, and (3) routine use of sunscreen. Frequent sunburns were defined as the report of > or = 3 sunburns during the past summer. We compared those who reported having used a tanning bed in the past year at least once with those who reported no tanning bed use in the past year. Routine use of sunscreen was defined as a respondent who replied that he or she "always" or "often" used sunscreen with sun protection factor of 15 or more when he or she was outside for > 15 minutes on a sunny day during the past summer. General estimating equations were used to calculate odds ratios and 95% confidence intervals adjusted for gender, age, color of untanned skin, and number of friends who were tanned. We also conducted an additional analysis restricted to children whose mothers had received a diagnosis of skin cancer in which we assessed sun protection behaviors according to the child's age and mother's age at the time of the mother's diagnosis and the number of years that had passed since the diagnosis of the mother's skin cancer. In 1999, 9943 children reported their sun protection behaviors; 8697 of their mothers had not received a diagnosis of skin cancer or reported a family history of melanoma, 463

  12. The CCC2000 Birth Cohort Study of Register-Based Family History of Mental Disorders and Psychotic Experiences in Offspring

    DEFF Research Database (Denmark)

    Jeppesen, Pia; Tidselbak Larsen, Janne; Clemmensen, Lars

    2015-01-01

    in childhood was predicted by a family history of mental disorder with psychosis rather than a family history of nonpsychotic mental disorder and whether this association differed by severity of PE. The study examined data on 1632 children from a general population birth cohort assessed at age 11-12 years...... by use of a semistructured interview covering 22 psychotic symptoms. The Danish national registers were linked to describe the complete family history of hospital-based psychiatric diagnoses. Uni- and multivariable logistic regressions were used to test whether a family history of any mental disorder...... with psychosis, or of nonpsychotic mental disorder, vs no diagnoses was associated with increased risk of PE in offspring (hierarchical exposure variable). The occurrence of PE in offspring was significantly associated with a history of psychosis among the first-degree relatives (adjusted relative risk [RR] = 3...

  13. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

    DEFF Research Database (Denmark)

    Bigdeli, Tim B.; Ripke, Stephan; Bacanu, Silviu-Alin

    2016-01-01

    Genome-wide association studies (GWAS) of schizophrenia have yielded more than 100 common susceptibility variants, and strongly support a substantial polygenic contribution of a large number of small allelic effects. It has been hypothesized that familial schizophrenia is largely a consequence...... of inherited rather than environmental factors. We investigated the extent to which familiality of schizophrenia is associated with enrichment for common risk variants detectable in a large GWAS. We analyzed single nucleotide polymorphism (SNP) data for cases reporting a family history of psychotic illness (N...... history subgroup. Comparison of genome-wide polygenic risk scores based on GWAS summary statistics indicated a significant enrichment for SNP effects among family history positive compared to family history negative cases (Nagelkerke's R2=0.0021; P=0.00331; P-value threshold

  14. Investigating uncertainty and emotions in conversations about family health history: a test of the theory of motivated information management.

    Science.gov (United States)

    Rauscher, Emily A; Hesse, Colin

    2014-01-01

    Although the importance of being knowledgeable of one's family health history is widely known, very little research has investigated how families communicate about this important topic. This study investigated how young adults seek information from parents about family health history. The authors used the Theory of Motivated Information Management as a framework to understand the process of uncertainty discrepancy and emotion in seeking information about family health history. Results of this study show the Theory of Motivated Information Management to be a good model to explain the process young adults go through in deciding to seek information from parents about family health history. Results also show that emotions other than anxiety can be used with success in the Theory of Motivated Information Management framework.

  15. Combined role of childhood maltreatment, family history, and gender in the risk for alcohol dependence.

    Science.gov (United States)

    Fenton, M C; Geier, T; Keyes, K; Skodol, A E; Grant, B F; Hasin, D S

    2013-05-01

    Studies of the relationship between childhood maltreatment and alcohol dependence have not controlled comprehensively for potential confounding by co-occurring maltreatments and other childhood trauma, or determined whether parental history of alcohol disorders operates synergistically with gender and maltreatment to produce alcohol dependence. We addressed these issues using national data. Method Face-to-face surveys of 27 712 adult participants in a national survey. Childhood physical, emotional and sexual abuse, and physical neglect were associated with alcohol dependence (prelationships for physical abuse in the entire sample, and for sexual abuse and emotional neglect in women (APs, 0.21, 0.31, 0.26 respectively), indicating that the odds of alcohol dependence given both parental history and these maltreatments were significantly higher than the additive effect of each alone (pdependence. Importantly, results suggest a synergistic role of parental alcoholism: the effect of physical abuse on alcohol dependence may depend on parental history, while the effects of sexual abuse and emotional neglect may depend on parental history among women. Findings underscore the importance of early identification and prevention, particularly among those with a family history, and could guide genetic research and intervention development, e.g. programs to reduce the burden of childhood maltreatment may benefit from addressing the negative long-term effects of maltreatments, including potential alcohol problems, across a broad range of childhood environments.

  16. Is urinary incontinence during and after pregnancy related to family history? A web-based survey among postpartum women (motherfit project).

    Science.gov (United States)

    Albers-Heitner, P; Bekkers, L; Moossdorff, H; Berghmans, B; Verdonk, P

    2016-01-01

    The authors studied whether family history of urinary incontinence (UI) is associated with pre- and postpartum UI. In 2010, Dutch postpartum women at three months were approached to fill in a Web-based questionnaire on UI and risk factors (body mass index, BMI), parity, pelvic organ prolapse, and family history. Results were analyzed with Chi-square and logistic regression analyses. 162 (61%) questionnaires were analyzed, 76 (47%) women reported UI before, during and/or after pregnancy, of which 34% also reported a UI family history. Sixteen (19%) out of 84 women without UI reported UI family history (p = 0.05). BMI was associated with prepartum UI (p = 0.035), but the association disappears when adding family history. Women with unknown UI family history had higher risk for postpartum U. UI family history is associated with UI during pregnancy. More awareness and research is needed whether adding family history questions on UI in prepartum consultations improves timely prevention.

  17. Familiality of mood repair responses among youth with and without histories of depression.

    Science.gov (United States)

    Bylsma, Lauren M; Yaroslavsky, Ilya; Rottenberg, Jonathan; Kiss, Enikő; Kapornai, Krisztina; Halas, Kitti; Dochnal, Roberta; Lefkovics, Eszter; Baji, Ildikό; Vetrό, Ágnes; Kovacs, Maria

    2016-01-01

    Affect regulation skills develop in the context of the family environment, wherein youths are influenced by their parents', and possibly their siblings', regulatory responses and styles. Regulatory responses to sadness (mood repair) that exacerbate or prolong dysphoria (maladaptive mood repair) may represent one way in which depression is transmitted within families. We examined self-reported adaptive and maladaptive mood repair responses across cognitive, social and behavioural domains in Hungarian 11- to 19-year-old youth and their parents. Offspring included 214 probands with a history of childhood-onset depressive disorder, 200 never depressed siblings and 161 control peers. Probands reported the most problematic mood repair responses, with siblings reporting more modest differences from controls. Mood repair responses of parents and their offspring, as well as within sib-pairs, were related, although results differed as a function of the regulatory response domain. Results demonstrate familiality of maladaptive and adaptive mood repair responses in multiple samples. These familial associations suggest that relationships with parents and siblings within families may impact the development of affect regulation in youth.

  18. Family history and the risk of stomach cancer death in Japan: differences by age and gender.

    Science.gov (United States)

    Yatsuya, Hiroshi; Toyoshima, Hideaki; Mizoue, Tetsuya; Kondo, Takaaki; Tamakoshi, Koji; Hori, Yoko; Tokui, Noritaka; Hoshiyama, Yoshiharu; Kikuchi, Shogo; Sakata, Kiyomi; Hayakawa, Norihiko; Tamakoshi, Akiko; Ohno, Yoshiyuki; Yoshimura, Takesumi

    2002-02-10

    Familial aggregation of stomach cancer has long been observed. The effect on disease risk of family history and its magnitude according to the type of affected relatives, however, is not well known. We conducted a prospective analysis using the JACC study (Japan Collaborative Cohort Study For Evaluation of Cancer Risk, sponsored by Monbusho) data. During the follow-up period, 662 stomach cancer deaths were documented. A positive history of stomach cancer in one or more first-degree relatives was associated with a significantly increased risk of death from the disease in both men (RR 1.60; 95% CI 1.11-2.31) and women (RR 2.47; 95% CI 1.50-4.06). In the subanalysis stratified by age, the association between positive family history and stomach cancer was stronger in the age group from 40-59 (RR 2.62; 95% CI 1.34-5.11 for men and RR 5.88; 95% CI 2.70-12.82 for women) than in the age group from 60-79 (RR 1.31; 95% CI 0.84-2.05 for men and RR 1.44; 95% CI 0.72-2.88 for women). In the age group from 40-59, men with father's history and women with mother's and sister's history of the disease had a significantly increased risk (RR 3.14; 95% CI 1.51-6.55, RR 10.46; 95% CI 4.54-24.12, RR 13.39; 95% CI 3.89-46.12, respectively). When 2 or more family members were affected, the increment in the risk was prominent especially in women (RR 9.45; 95% CI 4.46-20.05). These results suggest the existence of a certain subtype of stomach cancer that is inherited more often by women from one generation to the next in gender-influenced fashion. Any preventive strategy should take into account the degree of individual susceptibility. Copyright 2001 Wiley-Liss, Inc.

  19. Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study.

    Science.gov (United States)

    Wijdenes-Pijl, Miranda; Dondorp, Wybo J; Timmermans, Danielle Rm; Cornel, Martina C; Henneman, Lidewij

    2011-07-05

    This study assessed lay perceptions of issues related to predictive genetic testing for multifactorial diseases. These perceived issues may differ from the "classic" issues, e.g. autonomy, discrimination, and psychological harm that are considered important in predictive testing for monogenic disorders. In this study, type 2 diabetes was used as an example, and perceptions with regard to predictive testing based on DNA test results and family history assessment were compared. Eight focus group interviews were held with 45 individuals aged 35-70 years with (n = 3) and without (n = 1) a family history of diabetes, mixed groups of these two (n = 2), and diabetes patients (n = 2). All interviews were transcribed and analysed using Atlas-ti. Most participants believed in the ability of a predictive test to identify people at risk for diabetes and to motivate preventive behaviour. Different reasons underlying motivation were considered when comparing DNA test results and a family history risk assessment. A perceived drawback of DNA testing was that diabetes was considered not severe enough for this type of risk assessment. In addition, diabetes family history assessment was not considered useful by some participants, since there are also other risk factors involved, not everyone has a diabetes family history or knows their family history, and it might have a negative influence on family relations. Respect for autonomy of individuals was emphasized more with regard to DNA testing than family history assessment. Other issues such as psychological harm, discrimination, and privacy were only briefly mentioned for both tests. The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment (DNA test or obtaining family history) and also differ from

  20. Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study

    Directory of Open Access Journals (Sweden)

    Cornel Martina C

    2011-07-01

    Full Text Available Abstract Background This study assessed lay perceptions of issues related to predictive genetic testing for multifactorial diseases. These perceived issues may differ from the "classic" issues, e.g. autonomy, discrimination, and psychological harm that are considered important in predictive testing for monogenic disorders. In this study, type 2 diabetes was used as an example, and perceptions with regard to predictive testing based on DNA test results and family history assessment were compared. Methods Eight focus group interviews were held with 45 individuals aged 35-70 years with (n = 3 and without (n = 1 a family history of diabetes, mixed groups of these two (n = 2, and diabetes patients (n = 2. All interviews were transcribed and analysed using Atlas-ti. Results Most participants believed in the ability of a predictive test to identify people at risk for diabetes and to motivate preventive behaviour. Different reasons underlying motivation were considered when comparing DNA test results and a family history risk assessment. A perceived drawback of DNA testing was that diabetes was considered not severe enough for this type of risk assessment. In addition, diabetes family history assessment was not considered useful by some participants, since there are also other risk factors involved, not everyone has a diabetes family history or knows their family history, and it might have a negative influence on family relations. Respect for autonomy of individuals was emphasized more with regard to DNA testing than family history assessment. Other issues such as psychological harm, discrimination, and privacy were only briefly mentioned for both tests. Conclusion The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment

  1. Family history of suicide and exposure to interpersonal violence in childhood predict suicide in male suicide attempters.

    Science.gov (United States)

    Rajalin, Mia; Hirvikoski, Tatja; Jokinen, Jussi

    2013-05-15

    Family studies, including twin and adoption designs, have shown familial transmission of suicidal behaviors. Early environmental risk factors have an important role in the etiology of suicidal behavior. The aim of the present study was to assess the impact of family history of suicide and childhood trauma on suicide risk and on severity of suicide attempt in suicide attempters. A total of 181 suicide attempters were included. Family history of suicide was assessed with the Karolinska Suicide History Interview or through patient records. Childhood trauma was assessed with the Karolinska Interpersonal Violence Scale (KIVS) measuring exposure to violence and expressed violent behavior in childhood (between 6 and 14 years of age) and during adult life (15 years or older). Suicide intent was measured with the Freeman scale. Male suicide attempters with a positive family history of suicide made more serious and well planned suicide attempts and had a significantly higher suicide risk. In logistic regression, family history of suicide and exposure to interpersonal violence as a child were independent predictors of suicide in male suicide attempters. The information about family history of suicide and exposure to interpersonal violence as a child derives from the patients only. In the first part of the inclusion period the information was collected from patient records. The results of this study imply that suicides among those at biological risk might be prevented with the early recognition of environmental risks. Copyright © 2012 Elsevier B.V. All rights reserved.

  2. Facial palsy in Melkersson-Rosenthal syndrome and Bell's palsy: familial history and recurrence tendency.

    Science.gov (United States)

    Sun, Baochun; Zhou, Chengyong; Han, Zeli

    2015-02-01

    The aim of this study was to compare genetic predilection and recurrence tendency between facial palsy in Melkersson-Rosenthal syndrome (MRS) and Bell's palsy We carried out an investigation on patients with facial palsy in MRS and those with Bell's palsy who visited the outpatient department in our hospital between February 2009 and February 2013. They were asked about familial history and whether it was the first episode, with the results recorded and compared. There were 16 patients with facial palsy in MRS and 860 patients with Bell's palsy involved in the study. Familial history was positive in 5 of 16 patients (31.3%) with facial palsy in MRS and 56 of 860 patients (6.5%) with Bell's palsy (P palsy in MRS and 88 of 860 cases (10.2%) with Bell's palsy had a history of facial palsy in the past (P Bell's palsy, facial palsy in MRS has an obvious genetic predilection and recurrence tendency. © The Author(s) 2014.

  3. Family history of hypertension increases risk of preeclampsia in pregnant women: a case-control study

    Directory of Open Access Journals (Sweden)

    Mulualem Endeshaw

    2016-12-01

    Advanced maternal age (AOR=4.79;95% CI 1.031-22.18, family history of hypertension (AOR=11.16;95% CI 5.41-41.43, history of diabetes mellitus (AOR=6.17;95% CI 2.11-20.33, UTI in the current pregnancy (AOR=6.58;95% CI 2.93-14.73, failure to comply with iron and folic acid supplement during pregnancy (AOR=8.32;95% CI 3.35-20.62, lack of exercise (AOR=3.33;95% CI 1.35-8.17, multiple pregnancy (AOR=4.05;95% CI 1.57-12.27, anemia (AOR=4.19;95% CI 1.27-13.92, and periodontal disease or gingivitis (AOR =3.51;95% CI 1.14-10.83 were associated with preeclampsia. Conclusion Family history of hypertension was the most dominant risk factor for preeclampsia in pregnant women. Encouraging pregnant women to have health seeking behavior during pregnancy would provide a chance to diagnose preeclampsia as early as possible.

  4. Can family risk-factors moderate the link between psychopathy and life-history strategy?

    Directory of Open Access Journals (Sweden)

    Međedović Janko

    2016-01-01

    Full Text Available Life History Theory is an explanatory evolutionary framework which explains differences in fitness-relevant outcomes using the characteristics of the environment and individual organisms. Basically, individuals can be positioned somewhere on the r/K continuum of the Life History Strategy (LHS: a K or slow strategy represents later maturity and reproduction, a smaller number of offspring with higher investment in them, while the r (or fast strategy follows the opposite pattern. Previous research offered evidence that psychopathy can represent a trait associated with fast LHS. In the present research we examined the relations between the family risk-factors, a four-factor model of psychopathy and the LHS in a sample of male convicts (N=181. The results have shown that a manipulative and deceitful interpersonal style is associated with slow LHS while shallow affect and antisocial tendencies are related to fast LHS. The interactions between psychopathy and family risk-factors revealed that parental criminal behaviour enhances the relation between fast LHS and psychopathic traits, including the manipulative interpersonal style. The findings are in accordance with the Life History Theory and provide a deeper understanding of the preservation of psychopathy in contemporary populations.

  5. Family history assessment of personality disorders: I. Concordance with direct interview and between pairs of informants.

    Science.gov (United States)

    Ferro, T; Klein, D N

    1997-01-01

    The present study examined the concordance of the Family History Interview for Personality Disorders (FHIPD) with diagnoses based on direct interviews and between pairs of informants. Subjects were 224 probands participating in a series of studies of the familial transmission of mood and personality disorders and their first-degree relatives. Proband informants and relatives provided information about themselves on the Structured Clinical Interview for DSM-III-R (SCID), Personality Disorder Examination (PDE), and Eysenck Personality Questionnaire (EPQ). Information from informants about relatives was collected with the FHIPD. All assessments were made blindly and independently. Using Kappa, concordance between proband informants' family histories and relative direct reports on specific personality disorders was low, ranging from -.01 to .28, with a median of .10. Kappa for a diagnosis of any personality disorder was .16. When two independent informant reports were compared, Kappas for specific Axis II disorders ranged from .10 to .72, with a median of .28. Kappa for a diagnosis of any personality disorder was .36. These data suggest that subjects and informants provide different perspectives on Axis II psychopathology, and support the use of both sources of information whenever possible.

  6. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes.

    Science.gov (United States)

    Papazafiropoulou, Athanasia; Sotiropoulos, Alexios; Skliros, Eystathios; Kardara, Marina; Kokolaki, Anthi; Apostolou, Ourania; Pappas, Stavros

    2009-04-27

    A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D). The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05) and lower LDL-cholesterol levels (115.12 +/- 39.76 vs. 127.13 +/- 46.53 mg/dl, P = 0.006) than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  7. The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients

    International Nuclear Information System (INIS)

    Labauge, P.; Laberge, S.; Brunereau, L.; Levy, C.; Houtteville, J.P.

    2000-01-01

    Our objective was to determine the natural history and prognostic factors of familial forms of cerebral cavernous malformations (CCM). Cavernomas are one of the most common central nervous system vascular malformations. Familial CCM is increasingly diagnosed, but little is known about its natural history. In a national survey, we analysed clinical and MRI features of 173 patients from 57 unrelated French families. Of these 40 had undergone at least two clinical and MRI examinations. Occurrence of haemorrhage, new lesions, change in signal intensity and size of lesions have been studied by comparison between first and last MRI studies. The CCM were classified according to Zabramski et al. Mean follow-up was 3.2 years (range 0.5-6.5 years). We followed 232 cavernomas (mean 5.9 per patient, range 1-17). Serial MRI demonstrated changes in 28 patients (70 %). Bleeding occurred in 21 lesions (9.1 %) in 14 patients (35 %). The haemorrhagic risk was 2.5 % per lesion-year, higher in type I and brain-stem CCM. We saw 23 new lesions appear in 11 patients (27.5 %), with an incidence of 0.2 lesions per patient year. Signal change was observed in 11 patients (27.5 %), in 14 lesions (6 %), while 9 lesions (3.9 %) in 9 patients (22.5 %) changed significantly in size. (orig.)

  8. 'Start the conversation': the New South Wales (Australia) family health history campaign.

    Science.gov (United States)

    Dunlop, K; Barlow-Stewart, K

    2010-01-01

    Evidence that family health history (FHH) informs recommendations for appropriate early detection strategies used for the prevention of many health conditions underscores the importance of optimizing a patient's knowledge of his/her personal FHH. For some conditions, FHH also underpins identifying those at potentially high risk for whom genetic testing may be possible and suitable to further inform the advice. The Family Health History Campaign 'Start the Conversation' was conducted in New South Wales (Australia) in August 2006 as a small state-wide media campaign with the aim of encouraging individuals to discuss and gather their FHH information about several conditions and report it to their doctor. Campaign development included consultations with consumers and primary care practitioners (general practitioners - GPs), development of campaign resources, and establishment of partnerships. Evaluation methodologies included community poll surveys pre- and post-campaign, a GP mail survey, and website usage analysis. While only 112/403 of the polled community reported hearing about the campaign in the media, 48% of those men and women were encouraged to start the conversation with their families. Limited findings from the GP survey respondents suggested they were engaged, made aware of the potential lack of patient knowledge about FHH and generated referral for several high-risk patients. Campaigns that use the media to encourage the community to take action and also engage the GPs can create a supportive environment that has the potential to increase the accuracy with reporting of FHH to maximize benefit for early detection and prevention.

  9. Family health history communication networks of older adults: importance of social relationships and disease perceptions.

    Science.gov (United States)

    Ashida, Sato; Kaphingst, Kimberly A; Goodman, Melody; Schafer, Ellen J

    2013-10-01

    Older individuals play a critical role in disseminating family health history (FHH) information that can facilitate disease prevention among younger family members. This study evaluated the characteristics of older adults and their familial networks associated with two types of communication (have shared and intend to share new FHH information with family members) to inform public health efforts to facilitate FHH dissemination. Information on 970 social network members enumerated by 99 seniors (aged 57 years and older) at 3 senior centers in Memphis, Tennessee, through face-to-face interviews was analyzed. Participants shared FHH information with 27.5% of the network members; 54.7% of children and 24.4% of siblings. Two-level logistic regression models showed that participants had shared FHH with those to whom they provided emotional support (odds ratio [OR] = 1.836) and felt close to (OR = 1.757). Network-members were more likely to have received FHH from participants with a cancer diagnosis (OR = 2.617) and higher familiarity with (OR = 1.380) and importance of sharing FHH with family (OR = 1.474). Participants intended to share new FHH with those who provide tangible support to (OR = 1.804) and were very close to them (OR = 2.112). Members with whom participants intend to share new FHH were more likely to belong to the network of participants with higher perceived severity if family members encountered heart disease (OR = 1.329). Many first-degree relatives were not informed of FHH. Perceptions about FHH and disease risk as well as quality of social relationships may play roles in whether seniors communicate FHH with their families. Future studies may consider influencing these perceptions and relationships.

  10. The Effects of Tryptophan on Everyday Interpersonal Encounters and Social Cognitions in Individuals with a Family History of Depression

    NARCIS (Netherlands)

    Hogenelst, Koen; Schoevers, Robert A.; Rot, Marije Aan Het

    2015-01-01

    Background: Individuals with a family history of depression show subtle abnormalities in the processing of social stimuli. This could negatively affect their interpersonal functioning and contribute to their depression risk. Repeated administration of the serotonin precursor tryptophan has

  11. Association between overweight and obesity in schoolchildren with rs9939609 polymorphism (FTO and family history for obesity

    Directory of Open Access Journals (Sweden)

    Cézane Priscila Reuter

    2016-09-01

    Conclusions: There is an association between the AA genotype of rs9939609 polymorphism and BMI among schoolchildren. The association between overweight/obesity in schoolchildren with a family history of obesity was found mainly among students with the AA genotype.

  12. Elevated liver enzymes in women with a family history of diabetes.

    Science.gov (United States)

    Inoue, Kazuo; Matsumoto, Masatoshi; Miyoshi, Yuji; Kobayashi, Yasuki

    2008-03-01

    Both elevated liver enzymes and a family history of diabetes mellitus (FHDM) are independent risk factors for type 2 diabetes. This study evaluates the epidemiological association between elevated liver enzymes and FHDM. Subjects included 3512 women workers without diabetes, hepatitis, a smoking habit, or a history of alcohol intake. Blood samples and personal data were collected from all subjects. Subjects with FHDM had a higher mean body mass index (BMI: 23.9kg/m(2) vs. 23.4kg/m(2); p=0.003). Laboratory testing also revealed higher mean fasting plasma glucose (FPG: 5.67mmol/L vs. 5.22mmol/L; penzymes were associated with FHDM. In particular, elevated GGT was related to FHDM, independent of the other variables. Elevated liver enzymes, probably due to fat deposition in the liver, may play a role in increasing the risk of diabetes in individuals with FHDM.

  13. Colonoscopy screening among US adults aged 40 or older with a family history of colorectal cancer.

    Science.gov (United States)

    Tsai, Meng-Han; Xirasagar, Sudha; Li, Yi-Jhen; de Groen, Piet C

    2015-05-21

    Colonoscopy screening reduces colorectal cancer (CRC) incidence and mortality. CRC screening is recommended at age 50 for average-risk people. Screening of first-degree relatives of CRC patients is recommended to begin at age 40 or 10 years before the age at diagnosis of the youngest relative diagnosed with CRC. CRC incidence has increased recently among younger Americans while it has declined among older Americans. The objective of this study was to determine whether first-degree relatives of CRC patients are being screened according to recommended guidelines. We studied colonoscopy screening rates among the US population reporting a CRC family history using 2005 and 2010 National Health Interview Survey data. Of 26,064 study-eligible respondents, 2,470 reported a CRC family history; of those with a family history, 45.6% had a colonoscopy (25.2% in 2005 and 65.8% 2010). The colonoscopy rate among first-degree relatives aged 40 to 49 in 2010 (38.3%) was about half that of first-degree relatives aged 50 or older (69.7%). First-degree relatives were nearly twice as likely as nonfirst-degree relatives to have a colonoscopy (adjusted odds ratio [AOR], 1.7; 95% confidence interval, 1.5-1.9), but those aged 40 to 49 were less likely to have a colonoscopy than those in older age groups (AOR, 2.6 for age 50-64; AOR, 3.6 for age ≥65). Interactions with age, insurance, and race/ethnicity were not significant. Having health insurance tripled the likelihood of screening. Despite a 5-fold increase in colonoscopy screening rates since 2005, rates among first-degree relatives younger than the conventional screening age have lagged. Screening promotion targeted to this group may halt the recent rising trend of CRC among younger Americans.

  14. Family history of colorectal cancer in first-degree relatives and metachronous colorectal adenoma.

    Science.gov (United States)

    Jacobs, Elizabeth T; Gupta, Samir; Baron, John A; Cross, Amanda J; Lieberman, David A; Murphy, Gwen; Martínez, María Elena

    2018-02-20

    Little is known about the relationship between having a first-degree relative (FDR) with colorectal cancer (CRC) and risk for metachronous colorectal adenoma (CRA) following polypectomy. We pooled data from seven prospective studies of 7697 patients with previously resected CRAs to quantify the relationship between having a FDR with CRC and risk for metachronous adenoma. Compared with having no family history of CRC, a positive family history in any FDR was significantly associated with increased odds of developing any metachronous CRA (OR = 1.14; 95% CI = 1.01-1.29). Higher odds of CRA were observed among individuals with an affected mother (OR = 1.27; 95% CI = 1.05-1.53) or sibling (OR = 1.34; 95% CI = 1.11-1.62) as compared with those without, whereas no association was shown for individuals with an affected father. Odds of having a metachronous CRA increased with number of affected FDRs, with ORs (95% CIs) of 1.07 (0.93-1.23) for one relative and 1.39 (1.02-1.91) for two or more. Younger age of diagnosis of a sibling was associated with higher odds of metachronous CRA, with ORs (95% CIs) of 1.66 (1.08-2.56) for diagnosis at 65 years (p-trend = 0.008). Although limited by sample size, results for advanced metachronous CRA were similar to those for any metachronous CRA. A family history of CRC is related to a modestly increased odds of metachronous CRA. Future research should explore whether having a FDR with CRC, particularly at a young age, should have a role in risk stratification for surveillance colonoscopy.

  15. Family history density of substance use problems among undergraduate college students: Associations with heavy alcohol use and alcohol use disorder.

    Science.gov (United States)

    Powers, Gregory; Berger, Lisa; Fuhrmann, Daniel; Fendrich, Michael

    2017-08-01

    A family history of alcoholism has been found associated with problematic alcohol use among college students, but less research has examined the effects of family history density of substance use problems in this population. This study examined the prevalence of family history density of substance use problems and its associations with heavy alcohol use, negative alcohol consequences, and alcohol use disorder in a college sample. Based on a secondary analysis of a probability sample, data were analyzed from 606 undergraduate students. Family history density of substance use problems included both first and second degree biological relatives. Heavy alcohol use was the total number of days in which participants drank five/four or more drinks for men/women, negative alcohol consequences were derived from items commonly asked in college student surveys, and an alcohol use disorder was defined as meeting diagnostic criteria for alcohol abuse or dependence. Point prevalence estimated rates of family history density of substance use problems, and negative binomial, ANCOVA, and logistic regression models examined associations between family history density and the alcohol variables while adjusting for sociodemographic variables. Family history density of substance use problems was not significantly associated with total days of heavy alcohol use. Having a second degree, a first degree, or both a first and second degree relative(s) with a substance use problem, however, was significantly associated with experiencing negative alcohol consequences. In addition, having both a first and second degree relative(s) with a substance use problem significantly increased the odds of having an alcohol use disorder. Family history density of substance use problems may play a role in experiencing negative alcohol consequences and in having an alcohol use disorder among undergraduate college students and may be an important risk factor to assess by college health professionals. Copyright

  16. MR-guided intervention in women with a family history of breast cancer

    International Nuclear Information System (INIS)

    Viehweg, P.; Bernerth, T.; Kiechle, M.; Buchmann, J.; Heinig, A.; Koelbl, H.; Laniado, M.; Heywang-Koebrunner, S.H.

    2006-01-01

    Objective: A study was undertaken to assess the clinical value of magnetic resonance (MR) imaging-guided interventions in women with a family history, but no personal history of breast cancer. Methods and patients: Retrospective review was performed on 63 consecutive women who had a family history, but no personal history of breast cancer. A total of 97 lesions were referred for an MR-guided intervention. Standardized MR examinations (1.0 T, T1-weighted 3D FLASH, 0.15 mmol Gd-DTPA/kg body weight, prone position) were performed using a dedicated system which allows vacuum assisted breast biopsy or wire localization. Results: Histologic findings in 87 procedures revealed 9 (10%) invasive carcinomas, 12 (14%) ductal carcinomas in situ, 2 atypical ductal hyperplasias (2.5%) and 2 atypical lobular hyperplasias (2.5%). Sixty-two (71%) benign histologic results are verified by an MR-guided intervention, retrospective correlation of imaging and histology and by subsequent follow-up. In ten lesions the indication dropped since the enhancing lesion was no longer visible. Absent enhancement was confirmed by short-term re-imaging of the noncompressed breast and by follow-up. Conclusion: Malignancy was found in 24%, high-risk lesions in 5% of successfully performed MR-guided biopsy procedures. A 57% of MR-detected malignancies were ductal carcinoma in situ. In 10% of the lesions the intervention was not performed, since no enhancing lesion could be reproduced at the date of anticipated intervention. Such problems may be avoided if the initial MRI is performed in the appropriate phase of the menstrual cycle and without hormonal replacement therapy

  17. MR-guided intervention in women with a family history of breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Viehweg, P. [Institute of Diagnostic Radiology, Technical University Dresden, Fetscherstrasse 74, 01307 Dresden (Germany)]. E-mail: Petra.Viehweg@uniklinikum-dresden.de; Bernerth, T. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Kiechle, M. [Department of Obstetrics and Gynaecology, Technical University Munich, Ismaninger Strasse 22, 81675 Munich (Germany); Buchmann, J. [Department of Pathology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 14, 06097 Halle (Germany); Heinig, A. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Koelbl, H. [Department of Obstetrics and Gynaecology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 24, 06097 Halle (Germany); Laniado, M. [Institute of Diagnostic Radiology, Technical University Dresden, Fetscherstrasse 74, 01307 Dresden (Germany); Heywang-Koebrunner, S.H. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Department of Diagnostic Radiology, Technical University Munich, Ismaninger Strasse 19, 81675 Munich (Germany)

    2006-01-15

    Objective: A study was undertaken to assess the clinical value of magnetic resonance (MR) imaging-guided interventions in women with a family history, but no personal history of breast cancer. Methods and patients: Retrospective review was performed on 63 consecutive women who had a family history, but no personal history of breast cancer. A total of 97 lesions were referred for an MR-guided intervention. Standardized MR examinations (1.0 T, T1-weighted 3D FLASH, 0.15 mmol Gd-DTPA/kg body weight, prone position) were performed using a dedicated system which allows vacuum assisted breast biopsy or wire localization. Results: Histologic findings in 87 procedures revealed 9 (10%) invasive carcinomas, 12 (14%) ductal carcinomas in situ, 2 atypical ductal hyperplasias (2.5%) and 2 atypical lobular hyperplasias (2.5%). Sixty-two (71%) benign histologic results are verified by an MR-guided intervention, retrospective correlation of imaging and histology and by subsequent follow-up. In ten lesions the indication dropped since the enhancing lesion was no longer visible. Absent enhancement was confirmed by short-term re-imaging of the noncompressed breast and by follow-up. Conclusion: Malignancy was found in 24%, high-risk lesions in 5% of successfully performed MR-guided biopsy procedures. A 57% of MR-detected malignancies were ductal carcinoma in situ. In 10% of the lesions the intervention was not performed, since no enhancing lesion could be reproduced at the date of anticipated intervention. Such problems may be avoided if the initial MRI is performed in the appropriate phase of the menstrual cycle and without hormonal replacement therapy.

  18. Abdominal Aortic Diameter Is Increased in Males with a Family History of Abdominal Aortic Aneurysms

    DEFF Research Database (Denmark)

    Mejnert Jørgensen, Trine; Houlind, K; Green, A

    2014-01-01

    and a half times increased prevalence of AAA compared with +FH with male relatives with AAA with an OR of 2.65. CONCLUSIONS: First-degree male relatives of AAA patients have wider aortas and a twofold higher prevalence of AAA compared with the age adjusted background population. The prevalence of AAA...... measurement of maximum antero-posterior aortic diameter. Family history obtained by questionnaire. Multivariate regression analysis was used to test for confounders: age, sex, smoking, comorbidity and medication. RESULTS: From the screened cohort, 569 participants had at least one first degree relative...

  19. Collisional history of asteroids - evidence from Vesta and the Hirayama families

    International Nuclear Information System (INIS)

    Davis, D.R.; Chapman, C.R.; Weidenschilling, S.J.; Greenberg, R.

    1985-01-01

    Numerical simulations of the collisional evolution of hypothetical initial asteroid populations have been run which are subject to three constraints: they must evolve to the current asteroid size distribution, preserve Vesta's basaltic crust, and produce at least the observed number of major Hirayama families. A runaway growth initial asteroid population distribution is found to best satisfy these constraints, and a model is developed for the calculation of fragment size distribution in the disruption of large, gravitationally bound bodies in which the material strength is enhanced by hydrostatic self-compression. This model predicts that large asteroids behave as intrinsically strong bodies despite histories of collisional fracture. 51 references

  20. Constructing Masculinity through Genetic Legacies: Family Histories, Y-Chromosomes, and “Viking Identities”

    Directory of Open Access Journals (Sweden)

    Marc Scully

    2018-02-01

    Full Text Available The contemporary popularity of genetic genealogy has been accompanied by concerns about its potential reifying of identity. This has referred in particular to ethnicity, but also to gender, with fears that looking at the past through the lens of popular genetics reinforces patriarchal views of the family and traditional heteronormative understandings of masculinity and femininity. This study investigates whether such understandings are drawn upon by male participants in a population genetics study. Discursive analysis of 128 responses to a participant motivation survey and 18 follow-up interviews explores how participants construct masculinity when discussing genetics and their own family history. It is argued that while there is some evidence for the “patriarchal” argument, a subtler form of masculine legacy creation and maintenance is the primary narrative.

  1. Profiling Fast Healthcare Interoperability Resources (FHIR) of Family Health History based on the Clinical Element Models.

    Science.gov (United States)

    Lee, Jaehoon; Hulse, Nathan C; Wood, Grant M; Oniki, Thomas A; Huff, Stanley M

    2016-01-01

    In this study we developed a Fast Healthcare Interoperability Resources (FHIR) profile to support exchanging a full pedigree based family health history (FHH) information across multiple systems and applications used by clinicians, patients, and researchers. We used previously developed clinical element models (CEMs) that are capable of representing the FHH information, and derived essential data elements including attributes, constraints, and value sets. We analyzed gaps between the FHH CEM elements and existing FHIR resources. Based on the analysis, we developed a profile that consists of 1) FHIR resources for essential FHH data elements, 2) extensions for additional elements that were not covered by the resources, and 3) a structured definition to integrate patient and family member information in a FHIR message. We implemented the profile using an open-source based FHIR framework and validated it using patient-entered FHH data that was captured through a locally developed FHH tool.

  2. Family history and its association to curve size and treatment in 1,463 patients with idiopathic scoliosis.

    Science.gov (United States)

    Grauers, Anna; Danielsson, Aina; Karlsson, Magnus; Ohlin, Acke; Gerdhem, Paul

    2013-11-01

    To study family history in relation to curve severity, gender, age at diagnosis and treatment in idiopathic scoliosis. A self-assessment questionnaire on family history of scoliosis was administered to 1,463 untreated, brace or surgically treated idiopathic scoliosis patients. Out of the 1,463 patients, 51 % had one or more relatives with scoliosis. There was no significant difference between females and males, nor between juvenile and adolescent study participants in this respect (p = 0.939 and 0.110, respectively). There was a significant difference in maximum curve size between patients with one or more relatives with scoliosis (median 35°, interquartile range 25) and patients without any relative with scoliosis (median 32°, interquartile range 23) (p = 0.022). When stratifying patients according to treatment (observation, brace treatment or surgery), we found that it was more common to have a relative with scoliosis among the treated patients (p = 0.011). The OR for being treated was 1.32 (95% CI 1.06-1.64) when the patient had a relative with scoliosis, compared to not having. Larger curve sizes were found in patients with a family history of scoliosis than in the ones without. No relation between family history and gender or between family history and age at onset of idiopathic scoliosis was found. Although the presence of a family history of scoliosis may not be a strong prognostic risk factor, it indicates that these patients are at higher risk of developing a more severe curve.

  3. Associations Between Family History of Substance Use, Childhood Trauma, and Age of First Drug Use in Persons With Methamphetamine Dependence.

    Science.gov (United States)

    Svingen, Leah; Dykstra, Rita E; Simpson, Jamie L; Jaffe, Anna E; Bevins, Rick A; Carlo, Gustavo; DiLillo, David; Grant, Kathleen M

    2016-01-01

    The current study examined the association among family history of substance use problems, childhood maltreatment, and age of first drug use in a sample of men and women seeking treatment for methamphetamine dependence. Various forms of childhood maltreatment were considered as mediators of the association between family history of substance use problems and age of first drug use. Participants (N = 99, 40% women, mean age 33) who were under treatment for methamphetamine dependence completed a baseline interview that obtained demographic information, past substance use by participants, history of drug/alcohol problems in their family of origin, and age at first use of any drug (excluding alcohol and tobacco). The Early Trauma Inventory Self-Report-Short Form was used to assess child maltreatment experiences before the age of 18. Family history of substance use problems and childhood physical (but not emotional or sexual) trauma significantly predicted age of first drug use. Further, childhood physical trauma mediated the association between family history of substance use problems and age of first drug use. These findings suggest that the experience of childhood physical abuse may be an important mechanism through which family history of substance use is associated with an earlier age of first drug use.

  4. Abdominal aortic aneurysms do not develop more aggressively among patients with a positive family history of the disease

    DEFF Research Database (Denmark)

    Mejnert Jørgensen, Trine; Wemmelund, Holger; Green, Anders

    Title: Abdominal aortic aneurysms no not develop more aggressively among patients with a positive family history of the disease Authors: Trine M. M. Joergensen, Holger Wemmelund, Anders Green, Jes Lindholt, Kim Houlind. Introduction: It is well known, that a family history of abdominal aortic...... aneurysm (AAA) strongly increases the risk of developing AAA, but it is still uncertain whether familial AAA’s develops differently than non-familial AAA’s. Objectives: To investigate whether familial AAA’s develop more aggressively than non-familial AAA’s by looking at growth rate, risk of surgery...... and rupture, as well as the size of the aneurysm at the time of diagnosis and the patient´s age at the time of operation, rupture and diagnosis. Design: Observational retrospective longitudinal study Materials: 318 patients (273 men and 45 women) with AAA diagnosed between 1996-2008 in Jutland, Denmark...

  5. Does family history of metabolic syndrome affect the metabolic profile phenotype in young healthy individuals?

    Science.gov (United States)

    Lipińska, Anna; Koczaj-Bremer, Magdalena; Jankowski, Krzysztof; Kaźmierczak, Agnieszka; Ciurzyński, Michał; Ou-Pokrzewińska, Aisha; Mikocka, Ewelina; Lewandowski, Zbigniew; Demkow, Urszula; Pruszczyk, Piotr

    2014-01-01

    Early identification of high-risk individuals is key for the prevention of cardiovascular disease (CVD). The aim of this study was to assess the potential impact of a family history of metabolic syndrome (fhMetS) on the risk of metabolic disorders (abnormal body mass, lipid profile, glucose metabolism, insulin resistance, and blood pressure) in healthy young individuals. We studied CVD risk factors in 90 healthy volunteers, aged 27-39 years; of these, 78 had fhMetS and 12 were without fhMetS (control group). Fasting serum lipids, glucose, and insulin levels were assayed, and anthropometric parameters and blood pressure using, an ambulatory blood pressure monitoring system, were measured. Nutritional and physical activity habits were assessed. Despite similar nutritional and physical activity habits, abnormal body mass was found in 53.2% of the fhMetS participants and 46.1% of the control participants (p = 0.54). The occurrence of obesity was 19.4% and 0%, respectively (p = 0.69). Compared to the control participants, fhMetS was associated with significantly higher total cholesterol (5.46 mmol/L vs. 4.69 mmol/L, p family history of MetS.

  6. DNA Damage Observed in Unaffected Individuals with Family History of T2DM

    Science.gov (United States)

    Ramesh, Nikhila; Abilash, V. G.

    2017-11-01

    Diabetes has been documented to cause high levels of DNA fragmentation in some cases. As diabetes is inheritable and influenced by both genetic and environmental factors, an investigation into the genomic stability of individuals who are strongly at risk of inheriting diabetes was conducted by inducing oxidative stress, as DNA damage in unaffected individuals could be a sign of onset of the disease or the presence of genetic alterations that reduce cellular defences against reactive oxygen species. In this study, alkaline comet assay was performed on isolated human leukocytes to determine whether individuals with a family history of Type 2 Diabetes Mellitus (T2DM) are more prone to DNA damage under oxidative stress. Visual scoring of comets showed that these individuals have higher degree of DNA damage compared to a control individual with no family history of Type 2 Diabetes Mellitus. Further studies with large sample could determine the presence of disabled cellular defences against oxidative stress in unaffected individuals and intervention with antioxidants could prevent or manage Type 2 Diabetes Mellitus and its complications.

  7. Introducing medical genetics services in Ethiopia using the MiGene Family History App.

    Science.gov (United States)

    Quinonez, Shane C; Yeshidinber, Abate; Lourie, Michael A; Bekele, Delayehu; Mekonnen, Yemisrach; Nigatu, Balkachew; Metaferia, Gesit; Jebessa, Solomie

    2018-06-11

    Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia. A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period. The majority of doctors provide genetics services, with only 16% reporting their genetics knowledge is sufficient. A total of 1699 patients from the pediatric ward (n = 367), neonatal intensive care unit (NICU) (n = 477), and antenatal clinic (n = 855) were collected using the MFHA with a 4% incidence of a MFHA-screened condition present. The incidence was 11.7% in the pediatric ward, 3% in the NICU, and 0.5% in the antenatal clinic. Heart malformations (5.5% of patients) and trisomy 21 (4.4% of patients) were the most common conditions in the pediatric ward. Medical genetics services are needed in Ethiopia. As other countries increase their genetics capacity, the MFHA can provide fundamental genetics services and collect necessary epidemiologic data.

  8. Effect of parental family history of Alzheimer's disease on serial position profiles.

    Science.gov (United States)

    La Rue, Asenath; Hermann, Bruce; Jones, Jana E; Johnson, Sterling; Asthana, Sanjay; Sager, Mark A

    2008-07-01

    An exaggerated recency effect (ie, disproportionate recall of last-presented items) has been consistently observed in the word list learning of patients with Alzheimer's disease (AD). Our study sought to determine whether there were similar alterations in serial position learning among asymptomatic persons at risk for AD as a result of parental family history. Subjects included 623 asymptomatic middle-aged children of patients with AD (median, 53 years) and 157 control participants whose parents survived to at least age 70 without AD or other memory disorders. All participants were administered the Rey Auditory Verbal Learning Test, which requires learning and recall of 15 unrelated nouns. There was no significant difference in total words recalled between the AD children and control groups. However, compared with controls, AD children exhibited a significantly greater tendency to recall words from the end (recency) versus beginning (primacy) of the list. Serial position effects were unrelated to apolipoprotein allele epsilon 4 or depressive symptoms. Asymptomatic persons at risk for AD by virtue of family history do not show a difference in total words recalled compared with controls, but they exhibit a distinctly different serial position curve, suggesting greater reliance on immediate as opposed to episodic memory. This is the same serial position pattern observed in mild AD, seen here in reduced severity. Longitudinal follow-up is planned to determine whether changes in serial position patterns are a meaningful marker for preclinical detection of AD.

  9. Rapid onset pressor response to exercise in young women with a family history of hypertension.

    Science.gov (United States)

    Matthews, Evan L; Greaney, Jody L; Wenner, Megan M

    2017-09-01

    What is the central question of this study? Alterations in blood pressure control at exercise onset are apparent in older adults with established cardiovascular disease. It is currently not known whether these alterations are evident in young adults with a family history of hypertension. What is the main finding and its importance? We demonstrate that young women with a family history of hypertension display a larger change in blood pressure within the first 10 s of isometric exercise. These data suggest altered blood pressure control in young women with a family history of hypertension. Hypertensive adults demonstrate atypical increases in blood pressure (BP) and muscle sympathetic nerve activity (MSNA) at the immediate onset of static muscle contraction. However, it is unknown whether these abnormal responses occur in young, otherwise healthy adults at risk for developing future disease, such as those with a family history of hypertension (+FH). We tested the hypothesis that +FH young women have exaggerated increases in BP and MSNA at the onset of static muscle contraction compared with those without a family history of hypertension (-FH). We retrospectively examined beat-by-beat BP and MSNA during the initial 30 s of isometric handgrip exercise (30% of maximal voluntary contraction) in 16 +FH (22 ± 2 years old, 22 ± 3 kg m -2 ) and 16 -FH (22 ± 3 years old, 22 ± 3 kg m -2 ) women. Resting mean arterial pressure (+FH 80 ± 11 mmHg versus -FH 84 ± 13 mmHg), MSNA burst frequency (+FH 7 ± 3 bursts min -1 versus -FH 9 ± 5 bursts min -1 ) and burst incidence [+FH 12 ± 4 bursts (100 heart beats) -1 versus -FH 12 ± 8 bursts (100 heart beats) -1 ] were similar between groups (all P > 0.05). Within the first 10 s of exercise, changes in mean arterial pressure (+FH Δ8 ± 6 mmHg versus -FH Δ3 ± 2 mmHg, P exercise was not different between groups (-FH 7 ± 5 bursts min -1 versus +FH 9 ± 3 bursts min -1

  10. The KinFact Intervention – A Randomized Controlled Trial to Increase Family Communication About Cancer History

    Science.gov (United States)

    McClish, Donna; Gyure, Maria; Corona, Rosalie; Krist, Alexander H.; Rodríguez, Vivian M.; Maibauer, Alisa M.; Borzelleca, Joseph; Bowen, Deborah J.; Quillin, John M.

    2014-01-01

    Abstract Background: Knowing family history is important for understanding cancer risk, yet communication within families is suboptimal. Providing strategies to enhance communication may be useful. Methods: Four hundred ninety women were recruited from urban, safety-net, hospital-based primary care women's health clinics. Participants were randomized to receive the KinFact intervention or the control handout on lowering risks for breast/colon cancer and screening recommendations. Cancer family history was reviewed with all participants. The 20-minute KinFact intervention, based in communication and behavior theory, included reviewing individualized breast/colon cancer risks and an interactive presentation about cancer and communication. Study outcomes included whether participants reported collecting family history, shared cancer risk information with relatives, and the frequency of communication with relatives. Data were collected at baseline, 1, 6, and 14 months. Results: Overall, intervention participants were significantly more likely to gather family cancer information at follow-up (odds ratio [OR]: 2.73; 95% confidence interval [CI]: 2.01, 3.71) and to share familial cancer information with relatives (OR: 1.85; 95% CI: 1.37, 2.48). Communication frequency (1=not at all; 4=a lot) was significantly increased at follow-up (1.67 vs. 1.54). Differences were not modified by age, race, education, or family history. However, effects were modified by pregnancy status and genetic literacy. Intervention effects for information gathering and frequency were observed for nonpregnant women but not for pregnant women. Additionally, intervention effects were observed for information gathering in women with high genetic literacy, but not in women with low genetic literacy. Conclusions: The KinFact intervention successfully promoted family communication about cancer risk. Educating women to enhance their communication skills surrounding family history may allow them to partner

  11. Association between adolescent pregnancy and a family history of teenage births.

    Science.gov (United States)

    East, Patricia L; Reyes, Barbara T; Horn, Emily J

    2007-06-01

    The extent to which young women's risk of adolescent pregnancy is associated with having a mother who was a teenage parent, a sister who was a teenage parent or both is not known. A sample of 127 Latina and black adolescent females completed in-depth surveys at three time points between 1994 and 2000. Logistic regression analyses were used to examine whether socioeconomic factors, mothers' parenting characteristics and certain sibling relationship qualities explain the association between a family history of teenage births and young women's risk of pregnancy. Compared with young women with no family history of teenage births, young women whose sister had had a teenage birth and those whose sister and mother both had had teenage births were significantly more likely to experience a teenage pregnancy (odds ratios, 4.8 and 5.1, respectively). Young women who had only a sister who had had a teenage birth had greater odds of pregnancy than young women who had only a mother who had had a teenage birth (4.5). Having both a mother and a sister who had had teenage births was independently associated with an elevated risk of pregnancy (3.7), even after controlling for socioeconomic and mothers' parenting characteristics. Frequent companionship with an older sister was associated with increased odds of teenage pregnancy (4.5); frequent conflict with an older sister who had had a teenage birth was marginally associated with decreased odds of the outcome (0.3). Pregnancy prevention interventions targeting young women according to maternal and sibling teenage birth histories may be effective.

  12. [Metabolic syndrome prevalence in Chilean children and adolescent with family history of chronic noncommunicable diseases].

    Science.gov (United States)

    Burrows, Raquel; Atalah, Eduardo; Leiva, Laura; Rojas, Pamela; Maza, María Pía de la; Vásquez, Fabian; Lera, Lydia; Díaz, Erick

    2012-06-01

    Family history (FH+) of non transmisible chronic diseases (NTCD) increase MetS risk. In Chile, the MetS affects 27% of overweight children, and fasting hyperglycemia is very low prevalent (4,0%). The objective was to study the prevalence of MetS and the cardiovascular risk factors (CVRF) in overweight children with a family background of NTCD and analyze its association with the number of relatives witth NTCD and with parental history (PH). In 183 overweight children (BMI > or = p85) mean age 11,8 +/- 1,8 (86 males) with a FH+ (parental or grandparental) of NTCD, were assessed the BMI z (CDC / NCHS), waist circumference, blood arterial pressure, fasting Glucose and Insulin (RIA), triglycerides, HDL chol. The MetS and the CVRF were diagnosed using the Cook phenotype and the insulin resistance (IR) through the HOMA-IR. Chi2, ANOVA, t Student and Willcoxon test were performed. The frequency of FH+ of DM2, hypertension and dyslipidemia were 81,4%, 88,0% and 71,6 % respectively. The MeTS prevalence was 46,5 % associated to overweight magnitude an parental history of NTCD. The prevalence of hypertriglyceridemia was 54,6%, while fasting hyperglycemia affected 31,4% of the sample. There was no association between number of relatives with NTCD and CV risk profile. We conclude that in overweight children with FH+ of NTCD, the prevalence of MetS, dyslipidemia and fasting hyperglycemia are significantly higher, than those observed in the general population of obese children.

  13. The evolutionary history of the SAL1 gene family in eutherian mammals

    Directory of Open Access Journals (Sweden)

    Callebaut Isabelle

    2011-05-01

    Full Text Available Abstract Background SAL1 (salivary lipocalin is a member of the OBP (Odorant Binding Protein family and is involved in chemical sexual communication in pig. SAL1 and its relatives may be involved in pheromone and olfactory receptor binding and in pre-mating behaviour. The evolutionary history and the selective pressures acting on SAL1 and its orthologous genes have not yet been exhaustively described. The aim of the present work was to study the evolution of these genes, to elucidate the role of selective pressures in their evolution and the consequences for their functions. Results Here, we present the evolutionary history of SAL1 gene and its orthologous genes in mammals. We found that (1 SAL1 and its related genes arose in eutherian mammals with lineage-specific duplications in rodents, horse and cow and are lost in human, mouse lemur, bushbaby and orangutan, (2 the evolution of duplicated genes of horse, rat, mouse and guinea pig is driven by concerted evolution with extensive gene conversion events in mouse and guinea pig and by positive selection mainly acting on paralogous genes in horse and guinea pig, (3 positive selection was detected for amino acids involved in pheromone binding and amino acids putatively involved in olfactory receptor binding, (4 positive selection was also found for lineage, indicating a species-specific strategy for amino acid selection. Conclusions This work provides new insights into the evolutionary history of SAL1 and its orthologs. On one hand, some genes are subject to concerted evolution and to an increase in dosage, suggesting the need for homogeneity of sequence and function in certain species. On the other hand, positive selection plays a role in the diversification of the functions of the family and in lineage, suggesting adaptive evolution, with possible consequences for speciation and for the reinforcement of prezygotic barriers.

  14. The value of family history in the diagnosis of hypersensitivity pneumonitis in children

    Directory of Open Access Journals (Sweden)

    Joana Cardoso

    2014-04-01

    Full Text Available Hypersensitivity pneumonitis (HP, or extrinsic allergic alveolitis, is an immunologically mediated disease resulting from the inhalation of organic substances that trigger an inflammatory response in the alveolar wall, bronchioles, and interstitium in susceptible individuals. Although HP is predominantly an occupational disease, seen in adulthood, cases in children have been described. The diagnosis of HP requires a high degree of suspicion. The treatment consists in avoiding contact with the antigen, and, in some cases, systemic corticosteroids might be necessary in order to prevent its progression to pulmonary fibrosis. We report the clinical cases of three children with a history of contact with birds and a family history of HP. All three patients presented with cough and dyspnea on exertion. The disease was diagnosed on the basis of the clinical history and ancillary diagnostic test results consistent with the diagnosis, including a predominance of lymphocytes (> 60%, CD8+ T lymphocytes in particular in bronchoalveolar lavage fluid and a ground-glass pattern seen on HRCT of the chest. Early diagnosis is crucial in order to prevent HP from progressing to pulmonary fibrosis. Hereditary factors seem to influence the onset of the disease.

  15. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes

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    Apostolou Ourania

    2009-04-01

    Full Text Available Abstract Background A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D. The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. Methods A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. Results The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05 and lower LDL-cholesterol levels (115.12 ± 39.76 vs. 127.13 ± 46.53 mg/dl, P = 0.006 than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P 2, P = 0.08, higher prevalence of dyslipidemia (49.8 vs. 44.6%, P = 0.06 and retinopathy (17.9 vs. 14.5%, P = 0.08 compared with patients with no diabetic relatives. No difference in the degree of metabolic control and the prevalence of chronic complications were observed. Conclusion The present study showed an excess maternal transmission of T2D in a sample of Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  16. Morphological and immuno phenotypic characterization of mammary carcinomas in relation to family history of breast cancer

    International Nuclear Information System (INIS)

    Gualco, G.; Ortega, V.; Musto, M.; Delgado, L.

    2004-01-01

    Objective: To investigate histopathological and immuno phenotypic differences between breast carcinomas sporadic (CM E) and developed in the context of breast cancer (B C) Family (CM F). Methodology: The study included in the CME group (n = 34) patients (pts) with unilateral CM diagnosed after age 30 without family history of CM. In CM F group (n = 26) family members were included pts with 3 or more cases of CM (at least one diagnosed before age 50) or two cases with any of the following sub-criteria: at least one case diagnosed before age 35, paternal transmission, bilateral breast cancer, cancer ovary. Each group was subdivided into 2 subgroups according to age at diagnosis of CM: age equal to or greater than 40 years (subgroup 1) and age under 40 years (subgroup 2). It recorded the clinical characteristics and conventional anatomical and pathological parameters. By immunohistochemistry (IHC) expression of estrogen receptors was studied and progesterone (E R, P R), HER2, p3, bcl-2 and Ki67. Appropriate statistical tests were applied to Univariate and multivariate analyzes. Results: Mean age at diagnosis (45 vs 58, p <0.001) and tumor size (p <0.05) were lower in the CMF group than in the group with CME. In both groups predominant histological type was infiltrating ductal carcinoma NOS. He documented a tendency to higher histological grade and lower E R expression in CMF regarding CME. There were no differences in the expression of Pr, HER2, Ki67, bcl2 and p53. while in the CMF group no differences in tumor characteristics were observed by age diagnosis, in the CME, subgroup 2 showed a predominance of edges expansive growth, lower tubular differentiation, histological grade end stores III, minor component in situ, and low expression of RE. Discussion: Morphologic and immune phenotypic features are similar to the CMF studies documented in the United States and Europe, which agrees with the ancestral origin predominant in our population. Overall, the group presented

  17. Caffeine dependence in combination with a family history of alcoholism as a predictor of continued use of caffeine during pregnancy.

    Science.gov (United States)

    Svikis, Dace S; Berger, Nathan; Haug, Nancy A; Griffiths, Roland R

    2005-12-01

    The purpose of the study was to examine whether caffeine dependence and a family history of alcoholism are associated with continued use of caffeine during pregnancy. Forty-four women seeking obstetrical care in an office-based practice completed questionnaires and provided saliva samples at three prenatal visits occurring 2-3, 3-4, and 7 months postconception. On visit 1, the patients received the physician's instructions to stop using caffeine. Structured interviews were used to assign a diagnosis of caffeine dependence (lifetime) and to identify family history of alcoholism. Outcome measures included self-reported levels of caffeine use and saliva caffeine levels at the three prenatal visits. Although most women eliminated or substantially reduced their caffeine consumption between pregnancy awareness and prenatal visit 1, those with a lifetime diagnosis of caffeine dependence and a family history of alcoholism had higher levels of caffeine use and lower rates of abstinence throughout pregnancy. Saliva caffeine levels confirmed these effects. Withdrawal symptoms, functional impairment, and craving were cited as reasons they failed to eliminate or cut back on caffeine use. Fifty percent of the women with both a lifetime diagnosis of caffeine dependence and a family history of alcoholism continued to use caffeine in amounts (>300 mg/day) greater than those considered safe during pregnancy, compared to none of the women without caffeine dependence and a family history of alcoholism. Women with a lifetime diagnosis of caffeine dependence and a family history of alcoholism also reported higher rates of past cigarette smoking and problematic alcohol use. Caffeine-dependent women with a family history of alcoholism were not able to follow their physician's advice to reduce or eliminate caffeine consumption during pregnancy, despite their wanting to do so. This subgroup may require more intensive intervention to ensure caffeine abstinence and may be at greater risk for

  18. Familial history, age and smoking are important risk factors for disc degeneration disease in Arabic pedigrees

    International Nuclear Information System (INIS)

    Livshits, Gregory; Cohen, Zvi; Higla, Orabi; Yakovenko, Konstantin

    2001-01-01

    The present study used computed tomography imaging to evaluate the extent and pattern of the intergenerational transmission of spinal disc degeneration disease (DDD) in complex pedigrees. Contribution of a number of the potential covariates was also studied using univariate and multivariate logistic regression analysis, as well as two types of complex segregation analysis models. Among 161 individuals studied, DDD was diagnosed in 60 individuals. The number of protruded discs varied from 1 to 4, mostly in lumbar or lumbosacral regions. The average age at onset of the disease was similar for both women (36.0 years) and men (34.8 years). The proportion of the individuals affected by the DDD status of their parents ranged from 10% in families of two healthy parents to 55.5% of two affected parents (p < 0.01). The results of the logistic regression analyses and complex segregation analysis were qualitatively the same: DDD status of parents, age and smoking were the main risk factors for disc herniation in the Arabic families we examined. All analyses showed a predominating role of the family history as a risk factor for DDD in offsprings. It showed, for example, four times higher risk at age 50 for individuals with two affected parents vs. those who have two non-affected parents. However, the results of models-fitting genetic analysis, did not confirm a monogenic Mendelian pattern of inheritance

  19. FAMILY THOUGHT IN THE RUSSIAN LANGUAGE MODEL OF THE WORLD: HISTORY OF THE VALUABLE RELATION TO A FAMILY ACCORDING TO RUSSIAN

    Directory of Open Access Journals (Sweden)

    G. S. Samoylova

    2016-01-01

    Full Text Available The article consider the structure of a word meaning a family in diachronic aspect. The valuable attitude towards concept «family» is characteristic of the entire periods in the history of Russian, and transformation of semantics of the word concept is insignificant. The central idea in definition of a family in modern Russian is the idea of spiritual proximity of people, the close emotional relations. The word is actively used in figurative sense for expression of estimated meanings. In a different way there is a history of values of the terms of relationship entering a theme group «family». In modern Russian these words cease to express a positive emotional assessment at the use in relation to not relatives. According to authors, it demonstrates change of valuable reference points in a modern language picture of the world.

  20. Interrelationship between family history of alcoholism and generational status in the prediction of alcohol dependence in US Hispanics.

    Science.gov (United States)

    Chartier, K G; Thomas, N S; Kendler, K S

    2017-01-01

    Both a family history of alcoholism and migration-related factors like US v. foreign nativity increase the risk for developing alcohol use disorders in Hispanic Americans. For this study, we integrated these two lines of research to test whether the relationship between familial alcoholism and alcohol dependence changes with successive generations in the United States. Data were from the waves 1 and 2 National Epidemiologic Survey on Alcohol and Related Conditions (NESARC). Subjects self-identified Hispanic ethnicity (N = 4122; n = 1784 first, n = 1169 second, and n = 1169 third or later generation) and reported ever consuming ⩾12 drinks in a 1-year period. A family history of alcoholism was assessed in first- and second-degree relatives. Analyses predicting the number of alcohol dependence symptoms were path models. Alcohol dependence symptoms were associated with a stronger family history of alcoholism and later generational status. There was a significant interaction effect between familial alcoholism and generational status; the relationship of familial alcoholism with alcohol dependence symptoms increased significantly with successive generations in the United States, more strongly in women than men. Acculturation partially mediated the interaction effect between familial alcoholism and generational status on alcohol dependence, although not in the expected direction. Familial alcoholism interacted with generational status in predicting alcohol dependence symptoms in US Hispanic drinkers. This relationship suggests that heritability for alcoholism is influenced by a higher-order environmental factor, likely characterized by a relaxing of social restrictions on drinking.

  1. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

    DEFF Research Database (Denmark)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina

    2014-01-01

    -dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1...

  2. Barrier properties of cultured retinal pigment epithelium.

    Science.gov (United States)

    Rizzolo, Lawrence J

    2014-09-01

    The principal function of an epithelium is to form a dynamic barrier that regulates movement between body compartments. Each epithelium is specialized with barrier functions that are specific for the tissues it serves. The apical surface commonly faces a lumen, but the retinal pigment epithelium (RPE) appears to be unique by a facing solid tissue, the sensory retina. Nonetheless, there exists a thin (subretinal) space that can become fluid filled during pathology. RPE separates the subretinal space from the blood supply of the outer retina, thereby forming the outer blood-retinal barrier. The intricate interaction between the RPE and sensory retina presents challenges for learning how accurately culture models reflect native behavior. The challenge is heightened by findings that detail the variation of RPE barrier proteins both among species and at different stages of the life cycle. Among the striking differences is the expression of claudin family members. Claudins are the tight junction proteins that regulate ion diffusion across the spaces that lie between the cells of a monolayer. Claudin expression by RPE varies with species and life-stage, which implies functional differences among commonly used animal models. Investigators have turned to transcriptomics to supplement functional studies when comparing native and cultured tissue. The most detailed studies of the outer blood-retinal barrier have focused on human RPE with transcriptome and functional studies reported for human fetal, adult, and stem-cell derived RPE. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. The interpretability of family history reports of alcoholism in general community samples: Findings in a Midwestern US twin birth cohort

    Science.gov (United States)

    Waldron, Mary; Madden, Pamela A. F.; Nelson, Elliot C.; Knopik, Valerie S.; Glowinski, Anne L.; Grant, Julia D.; Lynskey, Michael T.; Jacob, Theodore; Sher, Kenneth J.; Bucholz, Kathleen K.; Heath, Andrew C.

    2011-01-01

    Background Although there is a long tradition in alcoholism research of using family history ratings, the interpretability of family history reports of alcoholism from general community samples has yet to be established. Methods Telephone interview data obtained from a large cohort of female like-sex twins (N = 3787, median age 22) and their biological parents (N = 2928, assessed at twins’ median age 15) were analyzed to determine agreement between parent self-report, parent ratings of coparent, and twin narrow (alcohol problems) versus broad (problem or excessive drinking) ratings of each parent. Results In European ancestry (EA) families, high tetrachoric correlations were observed between twin and cotwin ratings of parental alcohol problems, between twin and parent ratings of coparent alcohol problems using symptom-based and single-item assessments, as well as moderately high correlations between twin and both mother and father self-reports. In African American (AA) families, inter-rater agreement was substantially lower than for EA families, with no cases where father ratings of maternal alcohol problems agreed with either twin ratings or mother self-report; and both cotwin agreement and mother-twin agreement were reduced. Differences between EA and AA families were not explained by differences in years of cohabitation with father or mother’s education; however, underreporting of problems by AA parents may have contributed. Conclusions Results support the use of family history ratings of parental alcoholism in general community surveys for European ancestry families, but suggest that family history assessment in African American families requires improved methods. PMID:22235921

  4. Influence of family history of colorectal cancer on health behavior and performance of early detection procedures: the SUN Project.

    Science.gov (United States)

    Martínez-Ochoa, Eva; Gómez-Acebo, Ines; Beunza, Juan-José; Rodríguez-Cundín, Paz; Dierssen-Sotos, Trinidad; Llorca, Javier

    2012-07-01

    The aim of this study is to explore the relationship between family history of colorectal cancer and both health behavior and screening procedures in a population cohort. This study is a cross-sectional analysis of 15,169 participants belonging to a prospective cohort study (the SUN Project) based on two self-reported questionnaires: one of them related to lifestyle and the other a semiquantitative food frequency questionnaire. We explored the influence of family history of colorectal cancer in lifestyles (consumption of alcohol, weight, and diet) and medical management behaviors (screening of chronic diseases). People with family history of colorectal cancer increased their number of colorectal cancer screening tests (adjusted odds ratio for fecal occult blood test: 1.98, 95% confidence interval: 1.48-2.65; and adjusted odds ratio for colonoscopy/sigmoidoscopy: 3.42, 2.69-4.36); nevertheless, health behavior changes in diet of relatives of colorectal cancer patients were undetectable. We show that individuals with a family history of colorectal cancer increase their compliance with screening tests, although they exhibit no better health-related behaviors than people without family history of colorectal cancer. Further prospective studies are required to confirm these results and to identify tools to empower the subjects to change their risk profile. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Risk of thyroid cancer in euthyroid asymptomatic patients with thyroid nodules with an emphasis on family history of thyroid cancer

    International Nuclear Information System (INIS)

    JHwang, Shin Hye; Kim, Eun Kyung; Moon, Hee Jung; Yoon, Jung Hyun; Kwak, Jin Young

    2016-01-01

    To determine the factors associated with thyroid cancer, focusing on first-degree family history and ultrasonography (US) features, in euthyroid asymptomatic patients with thyroid nodules. This retrospective study included 1310 thyroid nodules of 1254 euthyroid asymptomatic patients who underwent US-guided fine-needle aspiration biopsy between November 2012 and August 2013. Nodule size and clinical risk factors- such as patient age, gender, first-degree family history of thyroid cancer, multiplicity on US and serum thyroid stimulating hormone (TSH) levels - were considered together with US features to compare benign and malignant nodules. Multiple logistic regression analysis was performed to assess the risk of thyroid malignancy according to clinical and US characteristics. Although all of the clinical factors and US findings were significantly different between patients with benign and malignant nodules, a solitary lesion on US (p = 0.041–0.043), US features and male gender (p < 0.001) were significant independent risk factors for thyroid malignancy in a multivariate analysis. Patient age, a first-degree family history of thyroid cancer and high normal serum TSH levels did not independently significantly increase the risk of thyroid cancer. However, multicollinearity existed between US assessment and patient age, first-degree family history of thyroid cancer and serum TSH values. Ultrasonography findings should be the primary criterion used to decide the management of euthyroid asymptomatic patients with thyroid nodules. The concept of first-degree family history as a risk factor for thyroid malignancy should be further studied in asymptomatic patients

  6. Primary care physician management, referral, and relations with specialists concerning patients at risk for cancer due to family history.

    Science.gov (United States)

    Wood, M E; Flynn, B S; Stockdale, A

    2013-01-01

    Risk stratification based on family history is a feature of screening guidelines for a number of cancers and referral guidelines for genetic counseling/testing for cancer risk. Our aim was to describe primary care physician perceptions of their role in managing cancer risk based on family history. Structured interviews were conducted by a medical anthropologist with primary care physicians in 3 settings in 2 north-eastern states. Transcripts were systematically analyzed by a research team to identify major themes expressed by participants. Forty interviews were conducted from May 2003 through May 2006. Physicians provided a diversity of views on roles in management of cancer risk based on family history, management practices and patient responses to risk information. They also provided a wide range of perspectives on criteria used for referral to specialists, types of specialists referred to and expected management roles for referred patients. Some primary care physicians appeared to make effective use of family history information for cancer risk management, but many in this sample did not. Increased focus on efficient assessment tools based on recognized guidelines, accessible guides to management options, and patient education and decision aids may be useful directions to facilitate broader use of family history information for cancer risk management. Copyright © 2013 S. Karger AG, Basel.

  7. Family history of diabetes and the risk of gestational diabetes mellitus in Iran: A systematic review and meta-analysis.

    Science.gov (United States)

    Moosazadeh, Mahmood; Asemi, Zatollah; Lankarani, Kamran B; Tabrizi, Reza; Maharlouei, Najmeh; Naghibzadeh-Tahami, Ahmad; Yousefzadeh, Gholamreza; Sadeghi, Reza; Khatibi, Seyed Reza; Afshari, Mahdi; Khodadost, Mahmoud; Akbari, Maryam

    2017-11-01

    Gestational diabetes is the most prevalent metabolic disorder being firstly diagnosed during pregnancy. The relationship between the family history of diabetes and the gestational diabetes mellitus (GDM) has been investigated in several primary studies with a number of contradictions in the results. Hence, the purpose of the present study is to determine the relationship between the GDM and the family history of diabetes using the meta-analysis method. All published papers in main national and international databases were systematically searched with some specific keywords to find the related studies between 2000 and 2016. We calculated the odds ratio (OR) with 95% confidence interval (CI) in analysis for each study using a random-effect and Mantel-Haenzel method. We also determined heterogeneity among these 33 articles and their publication bias. We entered 33 relevant studies of 2516 articles into the meta-analysis process including 2697 women with family history of diabetes mellitus as well as 29134 women without. Of them, 954 and 4372 subjects developed GDM respectively. Combining the results of the primary studies using the meta-analysis method, the overall odds ratio of family history for developing GDM was estimated as of 3.46 (95% CI: 2.80-4.27). This meta-analysis study revealed that the family history of diabetes is an important risk factor for the gestational diabetes mellitus. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  8. Risk of thyroid cancer in euthyroid asymptomatic patients with thyroid nodules with an emphasis on family history of thyroid cancer

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    JHwang, Shin Hye; Kim, Eun Kyung; Moon, Hee Jung; Yoon, Jung Hyun; Kwak, Jin Young [Dept. of Radiology, Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2016-04-15

    To determine the factors associated with thyroid cancer, focusing on first-degree family history and ultrasonography (US) features, in euthyroid asymptomatic patients with thyroid nodules. This retrospective study included 1310 thyroid nodules of 1254 euthyroid asymptomatic patients who underwent US-guided fine-needle aspiration biopsy between November 2012 and August 2013. Nodule size and clinical risk factors- such as patient age, gender, first-degree family history of thyroid cancer, multiplicity on US and serum thyroid stimulating hormone (TSH) levels - were considered together with US features to compare benign and malignant nodules. Multiple logistic regression analysis was performed to assess the risk of thyroid malignancy according to clinical and US characteristics. Although all of the clinical factors and US findings were significantly different between patients with benign and malignant nodules, a solitary lesion on US (p = 0.041–0.043), US features and male gender (p < 0.001) were significant independent risk factors for thyroid malignancy in a multivariate analysis. Patient age, a first-degree family history of thyroid cancer and high normal serum TSH levels did not independently significantly increase the risk of thyroid cancer. However, multicollinearity existed between US assessment and patient age, first-degree family history of thyroid cancer and serum TSH values. Ultrasonography findings should be the primary criterion used to decide the management of euthyroid asymptomatic patients with thyroid nodules. The concept of first-degree family history as a risk factor for thyroid malignancy should be further studied in asymptomatic patients.

  9. Family migration and employment: the importance of migration history and gender.

    Science.gov (United States)

    Bailey, A J; Cooke, T J

    1998-01-01

    "This article uses event history data to specify a model of employment returns to initial migration, onward migration, and return migration among newly married persons in the U.S. Husbands are more likely to be full-time employed than wives, and being a parent reduces the employment odds among married women. Employment returns to repeated migration differ by gender, with more husbands full-time employed after onward migration and more wives full-time employed after return migration events. We interpret these empirical findings in the context of family migration theory, segmented labor market theory, and gender-based responsibilities." Data are from the National Longitudinal Survey of Youth from 1979 to 1991. excerpt

  10. Chromosomal fragility syndrome and family history of radiosensitivity as indicators for radiotherapy dose modification

    International Nuclear Information System (INIS)

    Alsbeih, Ghazi; Story, Michael D.; Maor, Moshe H.; Geara, Fady B.; Brock, William A.

    2003-01-01

    Beside a few known radiosensitive syndromes, a patient's reaction to radiotherapy is difficult to predict. In this report we describe the management of a pediatric cancer patient presented with a family history of radiosensitivity and cancer proneness. Laboratory investigations revealed a chromosomal fragility syndrome and an increased cellular radiosensitivity in vitro. AT gene sequencing revealed no mutations. The patient was treated with reduced radiation doses to avoid the presumed increased risks of toxicity to normal tissues. The patient tolerated well the treatment with no significant acute or late radiation sequelae. Five years later, the patient remains both disease and complications free. While an accurate laboratory test for radiosensitivity is still lacking, assessments of chromosomal fragility, cell survival and clinical medicine will continue to be useful for a small number of patients

  11. Is prevalence of colorectal polyps higher in patients with family history of colorectal cancer?

    Directory of Open Access Journals (Sweden)

    Sthela Maria Murad-Regadas

    2015-07-01

    Full Text Available Objectives: To assess the prevalence of polyps in patients with a family history of colorectal cancer, in comparison to asymptomatic individuals with indication for screening. Methods: A prospective study in a group of patients who underwent colonoscopy between 2012 and 2014. Patients were divided into two groups: Group I: no family history of colorectal cancer, and Group II: with a family history in first-degree relatives. Demographic characteristics, findings on colonoscopy, presence, location and histological type of polyps were evaluated, comparing the two groups. Results: 214 patients were evaluated: 162 in Group I and 52 in Group II. The distribution of patients with polyps was similar in relation to gender: polyps were evidenced in Group I in 33 (20% female patients vs. 10 (6% male patients (p = 1.00; in Group II, the presence of polyps was evidenced in 9 (17% female patients vs. 2 (4% male patients (p = 1.00. Polypoid lesions were found in 54 patients (25%, with 43 (26% in Group I and 11 (21% in Group II. The prevalence of adenomas was similar in both groups (Group I = 18/37% vs. Group II = 10/50% (p = 0.83. Conclusion: In this preliminary study, no correlation was found between prevalence of polyps and a family history of colorectal cancer. Resumo: Objetivos: Avaliar a prevalência de pólipos em pacientes com história familiar de câncer colorretal comparando com indivíduos assintomáticos com indicação para rastreamento. Métodos: Estudo prospectivo realizado em um grupo de indivíduos submetidos à colonoscopia entre 2012 e 2014. Os pacientes foram distribuídos em dois grupos: Grupo I: sem história familiar de câncer colorretal e Grupo II: com história familiar em parentes de primeiro grau. Avaliaram-se características demográficas, achados na colonoscopia, presença, localização e tipo histológico dos pólipos, comparando os dois grupos. Resultados: Foram avaliados 214 pacientes, 162 incluídas no grupo I e 52

  12. Family history tools in primary care: does one size fit all?

    Science.gov (United States)

    Wilson, B J; Carroll, J C; Allanson, J; Little, J; Etchegary, H; Avard, D; Potter, B K; Castle, D; Grimshaw, J M; Chakraborty, P

    2012-01-01

    Family health history (FHH) has potential value in many health care settings. This review discusses the potential uses of FHH information in primary care and the need for tools to be designed accordingly. We developed a framework in which the attributes of FHH tools are mapped against these different purposes. It contains 7 attributes mapped against 5 purposes. In considering different FHH tool purposes, it is apparent that different attributes become more or less important, and that tools for different purposes require different implementation and evaluation strategies. The context in which a tool is used is also relevant to its effectiveness. For FHH tools, it is unlikely that 'one size fits all', although appreciation of different purposes, users and contexts should facilitate the development of different applications from single FHH platforms. Copyright © 2012 S. Karger AG, Basel.

  13. Impaired Fasting Glucose in Omani Adults with no Family History of Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Sawsan Al-Sinani

    2014-05-01

    Full Text Available Objectives: The aim of this study was to estimate the prevalence of impaired fasting glucose (IFG among Omani adults with no family history (FH of diabetes and to investigate the factors behind the risk of developing type 2 diabetes (T2D, while excluding a FH of diabetes. Methods: A total of 1,182 Omani adults, aged ≥40 years, visited the Family Medicine & Community Health Clinic at Sultan Qaboos University Hospital, Oman, on days other than the Diabetes Clinic days, from July 2010 to July 2011. The subjects were interviewed and asked if they had T2D or a FH of T2D. Results: Only 191 (16% reported no personal history of T2D or FH of the disease. Of these, anthropometric and biochemical data was complete in 159 subjects. Of these a total of 42 (26% had IFG according to the American Diabetes Association criteria. Body mass index, fasting insulin, haemoglobin A1C and blood pressure (BP, were significantly higher among individuals with IFG (P <0.01, P <0.05, P <0.01 and P <0.01, respectively. In addition, fasting insulin, BP and serum lipid profile were correlated with obesity indices (P <0.05. Obesity indices were strongly associated with the risk of IFG among Omanis, with waist circumference being the strongest predictor. Conclusion: Despite claiming no FH of diabetes, a large number of Omani adults in this study had a high risk of developing diabetes. This is possibly due to environmental factors and endogamy. The high prevalence of obesity combined with genetically susceptible individuals is a warning that diabetes could be a future epidemic in Oman.

  14. Relationship between family history of type 2 diabetes and serum FGF21.

    Science.gov (United States)

    Davis, Greggory R; Deville, Tiffany; Guillory, Joshua; Bellar, David; Nelson, Arnold G

    2017-11-01

    Determining predictive markers for the development of type 2 diabetes (T2D), particularly in young individuals, offers immense potential benefits in preventative medicine. Previous research examining serum fibroblast growth factor 21 (FGF21) in humans has revealed equivocal relationships with clinical markers of metabolic dysfunction. However, it is unknown to what extent, if any, first-degree family history of T2D (mother or father of the participant diagnosed with T2D) level affects serum FGF21 levels. The aim of this study was to determine whether in healthy individuals with FH+ (n = 18) and without FH- (n = 17) a family history of T2D affects serum FGF21. Fasting serum and clinical, metabolic and anthropometric measures were determined using a cross-sectional design. Differences between groups for FGF21 were not significant (FH+ = 266 pg/mL ± 51·4, FH = 180 pg/mL ± 29; Z = 0·97, P = 0·33). Adiponectin values were lower in FH+ (8·81 μg/mL ± 2·14) compared to FH- (10·65 μg/mL ± 1·44; F = 8·83, P = 0·01). Resistin was negatively correlated with FGF21 for all participants (r = -0·38, P = 0·03), but no other clinical, metabolic, or serum markers were predictive for serum FGF21 in FH+ or FH-. Serum FGF21 is not significantly different between FH+ and FH- in young, healthy individuals. Based upon the data of this pilot study, it is unclear whether serum FGF21 can be used as a stand-alone predictive marker for T2D in healthy subjects. © 2017 Stichting European Society for Clinical Investigation Journal Foundation.

  15. Internet-based physical activity intervention for women with a family history of breast cancer.

    Science.gov (United States)

    Hartman, Sheri J; Dunsiger, Shira I; Marinac, Catherine R; Marcus, Bess H; Rosen, Rochelle K; Gans, Kim M

    2015-12-01

    Physical inactivity is a modifiable risk factor for breast cancer. Physical activity interventions that can be delivered through the Internet have the potential to increase participant reach. The efficacy of an Internet-based physical activity intervention was tested in a sample of women at an elevated risk for breast cancer. A total of 55 women with at least 1 first-degree relative with breast cancer (but no personal history of breast cancer) were randomized to a 3-month theoretically grounded Internet-based physical activity intervention or an active control arm. Minutes of moderate to vigorous physical activity, psychosocial mediators of physical activity adoption and maintenance, as well as worry and perceived risk of developing breast cancer were assessed at baseline, 3-month, and 5-month follow up. Participants were on average 46.2 (SD = 11.4) years old with a body mass index of 27.3 (SD = 4.8) kg/m2. The intervention arm significantly increased minutes of moderate to vigorous physical activity compared to the active control arm at 3 months (213 vs. 129 min/week) and 5 months (208 vs. 119 min/week; both ps Internet-based physical activity intervention may substantially increase physical activity in women with a family history of breast cancer. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  16. A case of nonarteritic anterior ischemic optic neuropathy of a male with family history of the disease after receiving sildenafil

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    Felekis T

    2011-10-01

    Full Text Available T Felekis1, I Asproudis1, K Katsanos2, EV Tsianos21University Eye Clinic of Ioannina, Ioannina, Greece; 2First Department of Internal Medicine, University Hospital of Ioannina, Ioannina, GreeceAbstract: A 51-year-old male was referred to the University Eye Clinic of Ioannina with nonarteritic anterior ischemic optic neuropathy (NAION 12 hours after receiving sildenafil citrate (Viagra®. Examination for possible risk factors revealed mild hypercholesterolemia. Family history showed that his father had suffered from bilateral NAION. Although a cause-and-effect relationship is difficult to prove, there are reports indicating an association between the use of erectile dysfunction agents and the development of NAION. Physicians might need to investigate the presence of family history of NAION among systemic or vascular predisposing risk factors before prescribing erectile dysfunction drugs.Keywords: sildenafil, nonarteritic anterior ischemic optic neuropathy, erectile dysfunction drugs, family history

  17. Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer.

    Directory of Open Access Journals (Sweden)

    Clarice R Weinberg

    2014-03-01

    Full Text Available Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, reflecting the maternal genome's influence on prenatal development; 2. mitochondrial variants, which are inherited maternally; 3. autosomal genes, whose effects depend on parent of origin. We algebraically show that small asymmetries in family histories of affected individuals may reflect much larger genetic risks acting via those mechanisms. We apply these ideas to a study of sisters of women with breast cancer. Among 5,091 distinct families of women reporting that exactly one grandmother had breast cancer, risk was skewed toward maternal grandmothers (p<0.0001, especially if the granddaughter was diagnosed between age 45 and 54. Maternal genetic effects, mitochondrial variants, or variant genes with parent-of-origin effects may influence risk of perimenopausal breast cancer.

  18. Family history assessment for colorectal cancer (CRC) risk analysis - comparison of diagram- and questionnaire-based web interfaces.

    Science.gov (United States)

    Schultz, Michael; Seo, Steven Bohwan; Holt, Alec; Regenbrecht, Holger

    2015-11-18

    Colorectal cancer (CRC) has a high incidence, especially in New Zealand. The reasons for this are unknown. While most cancers develop sporadically, a positive family history, determined by the number and age at diagnosis of affected first and second degree relatives with CRC is one of the major factors, which may increase an individual's lifetime risk. Before a patient can be enrolled in a surveillance program a detailed assessment and documentation of the family history is important but time consuming and often inaccurate. The documentation is usually paper-based. Our aim was therefore to develop and validate the usability and efficacy of a web-based family history assessment tool for CRC suitable for the general population. The tool was also to calculate the risk and make a recommendation for surveillance. Two versions of an electronic assessment tool, diagram-based and questionnaire-based, were developed with the risk analysis and recommendations for surveillance based on the New Zealand Guidelines Group recommendations. Accuracy of our tool was tested prior to the study by comparing risk calculations based on family history by experienced gastroenterologists with the electronic assessment. The general public, visiting a local science fair were asked to use and comment on the usability of the two interfaces. Ninety people assessed and commented on the two interfaces. Both interfaces were effective in assessing the risk to develop CRC through their familial history for CRC. However, the questionnaire-based interface performed with significantly better satisfaction (p = 0.001) than the diagram-based interface. There was no difference in efficacy though. We conclude that a web-based questionnaire tool can assist in the accurate documentation and analysis of the family history relevant to determine the individual risk of CRC based on local guidelines. The calculator is now implemented and assessable through the web-page of a local charity for colorectal cancer

  19. Family matters : The influence of family history on phenomenology and IQ in patients with schizophrenia and their relatives

    NARCIS (Netherlands)

    Verweij, K.H.W.

    2014-01-01

    Although the exact aetiology of schizophrenia remains unknown, multiple genetic and environmental factors influence the development and expression of schizophrenia. The strongest risk factor to develop schizophrenia is the familial risk, thus having a family member with schizophrenia. The

  20. Family history of prostate and colorectal cancer and risk of colorectal cancer in the Women's health initiative.

    Science.gov (United States)

    Beebe-Dimmer, Jennifer L; Yee, Cecilia; Paskett, Electra; Schwartz, Ann G; Lane, Dorothy; Palmer, Nynikka R A; Bock, Cathryn H; Nassir, Rami; Simon, Michael S

    2017-12-13

    Evidence suggests that risk of colorectal and prostate cancer is increased among those with a family history of the same disease, particularly among first-degree relatives. However, the aggregation of colorectal and prostate cancer within families has not been well investigated. Analyses were conducted among participants of the Women's Health Initiative (WHI) observational cohort, free of cancer at the baseline examination. Subjects were followed for colorectal cancer through August 31st, 2009. A Cox-proportional hazards regression modeling approach was used to estimate risk of colorectal cancer associated with a family history of prostate cancer, colorectal cancer and both cancers among first-degree relatives of all participants and stratified by race (African American vs. White). Of 75,999 eligible participants, there were 1122 colorectal cancer cases diagnosed over the study period. A family history of prostate cancer alone was not associated with an increase in colorectal cancer risk after adjustment for confounders (aHR =0.94; 95% CI =0.76, 1.15). Separate analysis examining the joint impact, a family history of both colorectal and prostate cancer was associated with an almost 50% increase in colorectal cancer risk (aHR = 1.48; 95% CI = 1.04, 2.10), but similar to those with a family history of colorectal cancer only (95% CI = 1.31; 95% CI = 1.11, 1.54). Our findings suggest risk of colorectal cancer is increased similarly among women with colorectal cancer only and among those with both colorectal and prostate cancer diagnosed among first-degree family members. Future studies are needed to determine the relative contribution of genes and shared environment to the risk of both cancers.

  1. Assessment of family history of substance abuse for preventive interventions with patients experiencing chronic pain: A quality improvement project.

    Science.gov (United States)

    Pestka, Elizabeth; Nash, Virginia; Evans, Michele; Cronin, Joan; Bee, Susan; King, Susan; Osborn, Kristine; Gehin, Jessica; Weis, Karen; Loukianova, Larissa

    2016-04-01

    This quality improvement project demonstrates that RN Care Managers, in a chronic pain programme, can assess for a family history of substance abuse in 5-10 min. Information informs treatment based on specific high risk criteria. Benefits include heightened awareness of the genetic and environmental risks associated with a family history of substance abuse, an opportunity to participate in motivational interventions to prevent or minimize consequences of substance use disorders, and likely substantial overall health-care cost savings. © 2015 John Wiley & Sons Australia, Ltd.

  2. The contribution of reproductive factors and family history towards premenopausal breast cancer risk in Kuala Lumpur, Malaysia.

    Science.gov (United States)

    Razif, S Mohd; Sulaiman, S; Hanie, S Soraya; Aina, E Nor; Rohaizak, M; Fuad, I; Nurismah, M I; Sharifah, N A

    2011-08-01

    Breast cancer is the most common cancer among Malaysian women. This study aimed to determine the reproductive for premenopausal breast cancer risk in Kuala Lumpur, Malaysia. A case-control study was conducted in 216 histopathologically confirmed cases of premenopausal breast cancer and 216 community-based controls that were matched by age within a 5-year period and ethnicity. The results of this study showed that premenopausal breast cancer risks were strongly related to parity, number of live births and family history of breast cancer. Premenopausal women with these known reproductive and family history risk factors should take extra measures to undergo appropriate screening method for early detection of breast cancer.

  3. Family history of suicide and high motor impulsivity distinguish suicide attempters from suicide ideators among college students.

    Science.gov (United States)

    Wang, Yong-Guang; Chen, Shen; Xu, Zhi-Ming; Shen, Zhi-Hua; Wang, Yi-Quan; He, Xiao-Yan; Cao, Ri-Fang; Roberts, David L; Shi, Jian-Fei; Wang, Yi-Qiang

    2017-07-01

    Suicide in college students has become an important public health issue in China. The aim of this study was to identify the differences between suicide attempters and suicide ideators based on a cross-sectional survey. Our results indicate that although female gender, positive screening for psychiatric illness, positive family history of suicide, elevated overall impulsivity, and elevated motor impulsivity were correlated with suicidal ideation, only positive family history of suicide and high motor impulsivity could differentiate suicide attempters from suicidal ideators. Future research with a longitudinal and prospective study design should be conducted to confirm these findings. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Giuseppe and Aloysius Frari’s Works on Rabies and History of Frari Medical Family of Šibenik, Dalmatia

    Science.gov (United States)

    Krnić, Anton

    2007-01-01

    This article is an attempt to reconstruct the family history of the Fraris, the famous Šibenik medical family. Three generations of physicians from the Frari family played an important role not only at medical and social scene of Šibenik in the 18th and 19th century, but also in Croatian and Italian medical history. I will try to provide important details on the lives, medical and social work, and publications of 5 members of the family, Giuseppe (Josip), Angelo Antonio (Anđeo Antun), Sebastiano (Sebastijan), Michele Carlo (Mihovil), and Aloysius (Luigi) Frari. I would also like to pay a special attention to the works on rabies, written by Giuseppe and Luigi Frari, which are among the earliest and most accurate Croatian works on the subject. To reconstruct the history of the family, I studied the relevant editions about the medical and social history of Šibenik, Dalmatia, Venice, and Croatia, together with the Fraris’ publications and reflections. This was the first time Italian and Latin language works by Giuseppe and Luigi Frari on rabies were analyzed. The story on Fraris also documents that medical publishing was a common practice in Dalmatia in the 18th and the 19th century. PMID:17589982

  5. Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.

    Science.gov (United States)

    Valido Quintana, Mercedes; Oviedo Santos, Ángeles; Borkoski Barreiro, Silvia; Santana Rodríguez, Alfredo; Ramos Macías, Ángel

    Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation. This was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response. A total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven(0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele. The percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  6. Increased risk of metabolic disorders in healthy young adults with family history of diabetes: from the Korea National Health and Nutrition Survey.

    Science.gov (United States)

    Moon, Joon Ho; Roh, Eun; Oh, Tae Jung; Kim, Kyoung Min; Moon, Jae Hoon; Lim, Soo; Jang, Hak Chul; Choi, Sung Hee

    2017-01-01

    We assessed the impact of a family history of diabetes on type 2 diabetes, metabolic syndrome, and behavioral traits in young Korean adults. Subjects aged 25-44 years were included, and the presence of a family history of diabetes was obtained by a self-reported questionnaire (the Korea National Health and Nutrition Survey 2010). We compared the prevalence of type 2 diabetes and metabolic syndrome, and other metabolic parameters, including blood pressure and lipid profile. Of 2059 participants, those with a family history of diabetes involving first-degree relatives (n = 489, 23.7%) had a significantly higher prevalence of impaired fasting glucose (14.3 vs. 11.7%) and type 2 diabetes (6.7 vs. 1.8%), compared to those without a family history ( P  metabolic syndrome (21.3 vs. 12.1%, P  family history of diabetes. Among subjects exhibiting normal glucose tolerance (n = 1704), those with a family history of diabetes had higher fasting glucose (89.0 vs. 87.8 mg/dL, P  family history of diabetes. Young adults with a family history of diabetes had an increased risk of type 2 diabetes and metabolic syndrome, even though they currently exhibited a normal glycemic profile. Proactive lifestyle consultation is requested especially among healthy young population with a family history of diabetes.

  7. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

    DEFF Research Database (Denmark)

    Pinheiro, Maísa; Drigo, Sandra Aparecida; Tonhosolo, Renata

    2017-01-01

    Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES...... familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes...

  8. Comorbidity, family history and personality traits in pathological gamblers compared with healthy controls.

    Science.gov (United States)

    Mann, K; Lemenager, T; Zois, E; Hoffmann, S; Nakovics, H; Beutel, M; Vogelgesang, M; Wölfling, K; Kiefer, F; Fauth-Bühler, M

    2017-05-01

    While DSM-5 classified pathological gambling as an addictive disorder, there is debate as to whether ICD-11 should follow suit. The debate hinges on scientific evidence such as neurobiological findings, family history of psychiatric disorders, psychiatric comorbidity, and personality variables. In the "Baden-Württemberg Study of Pathological Gambling", we compared a group of 515 male pathological gamblers receiving treatment with 269 matched healthy controls. We studied differences in sociodemographic characteristics, gambling-related variables, psychiatric comorbidity (lifetime), family history of psychiatric conditions, as well as personality traits such as impulsivity (Barratt Impulsiveness Scale), sensation seeking (Zuckerman's Sensation Seeking Scale) and the NEO-FFI big five. Personality traits were validated in an age- and ethnicity-matched subsample of "pure" gamblers without any psychiatric comorbidity (including nicotine dependence). Data were analyzed using two-sample t-tests, Chi 2 analyses, Fisher's exact test and Pearson correlation analysis, as appropriate. Bonferroni correction was applied to correct for multiple comparisons. Only 1% of the gamblers had been diagnosed with an impulse control disorder other than gambling (ICD-10). Notably, 88% of the gamblers in our sample had a comorbid diagnosis of substance dependence. The highest axis I comorbidity rate was for nicotine dependence (80%), followed by alcohol dependence (28%). Early age of first gambling experience was correlated with gambling severity. Compared to first-degree relatives of controls, first-degree relatives of pathological gamblers were more likely to suffer from alcohol dependence (27.0% vs. 7.4%), pathological gambling (8.3% vs. 0.7%) and suicide attempts (2.7% vs. 0.4%). Significant group differences were observed for the NEO-FFI factors neuroticism, agreeableness and conscientiousness. Gamblers were also more impulsive than controls, but did not differ from controls in terms of

  9. Does Family History of Obesity, Cardiovascular, and Metabolic Diseases Influence Onset and Severity of Childhood Obesity?

    Directory of Open Access Journals (Sweden)

    Domenico Corica

    2018-05-01

    Full Text Available ObjectivesThe objectives were to evaluate (1 the metabolic profile and cardiometabolic risk in overweight/obese children at first assessment, stratifying patients according to severity of overweight and age; and (2 to investigate the relationship between family history (FH for obesity and cardiometabolic diseases and severity of childhood obesity.MethodsIn this cross-sectional, retrospective, observational study, 260 children (139 female, aged between 2.4 and 17.2 years, with overweight and obesity were recruited. Data regarding FH for obesity and cardiometabolic diseases were collected. Each patient underwent clinical and auxological examination and fasting blood sampling for metabolic profile. Homeostasis model assessment of insulin resistance (HOMA-IR, triglyceride-to-high-density lipoprotein cholesterol ratio, and atherogenic index of plasma were calculated. To evaluate the severity of obesity, children were divided into two groups for BMI standard deviation (SD ≤2.5 and BMI SD >2.5. Moreover, study population was analyzed, dividing it into three groups based on the chronological age of patient (<8, 8–11, >11 years.ResultsBMI SD was negatively correlated with chronological age (p < 0.005 and significantly higher in the group of children <8 years. BMI SD was positively associated with FH for obesity. Patients with more severe obesity (BMI SD >2.5 were younger (p < 0.005, mostly prepubertal, presented a significantly higher HOMA-IR (p = 0.04, and had a significantly higher prevalence of FH for arterial hypertension, type 2 diabetes mellitus, and coronary heart disease than the other group.Conclusion(1 Family history of obesity and cardiometabolic diseases are important risk factors for precocious obesity onset in childhood and are related to the severity of obesity. (2 Metabolic profile, especially HOMA-IR, is altered even among the youngest obese children at first evaluation. (3 Stratification of obesity severity

  10. Association of Family History of Exceptional Longevity With Decline in Physical Function in Aging.

    Science.gov (United States)

    Ayers, Emmeline; Barzilai, Nir; Crandall, Jill P; Milman, Sofiya; Verghese, Joe

    2017-11-09

    Although many genetic and nongenetic factors interact to determine an individual's physical phenotype, there has been limited examination of the contribution of family history of exceptional parental longevity on decline in physical function in aging. The LonGenity study recruited a relatively genetically homogenous cohort of Ashkenazi Jewish adults age 65 and older, who were defined as either offspring of parents with exceptional longevity ([OPEL]: having at least one parent who lived to age 95 or older) or offspring of parents with usual survival ([OPUS]: neither parent survived to age 95). Decline in performance on objective measures of strength (grip strength), balance (unipedal stance), and mobility (gait speed) as well as a composite physical function measure, the Short physical performance battery (SPPB), were compared between the two groups over a median follow-up of 3.2 years, accounting for age, sex, education, and comorbidities. Of the 984 LonGenity participants (mean age 76, 55% women), 448 were OPEL and 536 were OPUS. Compared to OPUS, OPEL had slower decline on measures of unipedal stance (-0.03 log-units/year, p = .026), repeated chair rise (0.13 s/year, p = .020) and SPPB (-0.11 points/year, p = .002). OPEL women had slower decline on chair rise and SPPB scores compared to OPUS women, although OPEL men had slower decline on unipedal stance compared to OPUS men. Our findings provide evidence that variation in late-life decline in physical function is associated with familial longevity, and may vary for men and women. © The Author 2017. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. No differences in ventral striatum responsivity between adolescents with a positive family history of alcoholism and controls.

    Science.gov (United States)

    Müller, Kathrin U; Gan, Gabriela; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Büchel, Christian; Conrod, Patricia; Fauth-Bühler, Mira; Flor, Herta; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny; Heinz, Andreas; Ittermann, Bernd; Lawrence, Claire; Loth, Eva; Mann, Karl; Martinot, Jean-Luc; Nees, Frauke; Paus, Tomáš; Pausova, Zdenka; Rietschel, Marcella; Ströhle, Andreas; Struve, Maren; Schumann, Gunter; Smolka, Michael N

    2015-05-01

    Individuals with alcohol-dependent parents show an elevated risk of developing alcohol-related problems themselves. Modulations of the mesolimbic reward circuit have been postulated as a pre-existing marker of alcoholism. We tested whether a positive family history of alcoholism is correlated with ventral striatum functionality during a reward task. All participants performed a modified version of the monetary incentive delay task while their brain responses were measured with functional magnetic resonance imaging. We compared 206 healthy adolescents (aged 13-15) who had any first- or second-degree relative with alcoholism to 206 matched controls with no biological relative with alcoholism. Reward anticipation as well as feedback of win recruited the ventral striatum in all participants, but adolescents with a positive family history of alcoholism did not differ from their matched peers. Also we did not find any correlation between family history density and reward anticipation or feedback of win. This finding of no differences did not change when we analyzed a subsample of 77 adolescents with at least one parent with alcohol use disorder and their matched controls. Because this result is in line with another study reporting no differences between children with alcohol-dependent parents and controls at young age, but contrasts with studies of older individuals, one might conclude that at younger age the effect of family history has not yet exerted its influence on the still developing mesolimbic reward circuit. © 2014 Society for the Study of Addiction.

  12. Factors from Durkheim's Family Integration Related to Suicidal Ideation among Men with Histories of Child Sexual Abuse

    Science.gov (United States)

    Easton, Scott D.; Renner, Lynette M.

    2013-01-01

    Men who were sexually abused during childhood represent a highly stigmatized, marginalized population at risk for a variety of long-term mental health problems. Using the family integration dimension of Durkheim's theory of suicide, factors associated with suicidal ideation among a purposive sample of 487 men with histories of child sexual…

  13. Literature review : Use of family history for primary paediatric care as the next step towards use of genomics in healthcare

    NARCIS (Netherlands)

    Syurina, Elena V.; Hens, Kristien; Feron, Frans J M

    2013-01-01

    Introduction: Many childhood-onset diseases and developmental disorders have a strong genetic basis. However, up till now, the knowledge of this genetic component within multifactorial diseases is not frequently used in paediatric practice. A good family history collection can facilitate the link

  14. Predicting Adolescents' Organized Activity Involvement: The Role of Maternal Depression History, Family Relationship Quality, and Adolescent Cognitions

    Science.gov (United States)

    Bohnert, Amy M.; Martin, Nina C.; Garber, Judy

    2007-01-01

    Although the potential benefits of organized activity involvement during high school have been documented, little is known about what familial and individual characteristics are associated with higher levels of participation. Using structural equation modeling, this longitudinal study examined the extent to which maternal depression history (i.e.,…

  15. Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer?

    Science.gov (United States)

    Chikman, Bar; Davidson, Tima; Kais, Hasan; Jeroukhimov, Igor; Leshno, Ari; Sandbank, Judith; Halevy, Ariel; Lavy, Ron

    2016-01-01

    CDH1 gene mutations have been found to be associated with diffuse type gastric cancer and invasive lobular carcinoma (ILC) of the breast. To the best of our knowledge, this is the only study relating a family history of gastric cancer to ILC of the breast. We conducted a retrospective study comparing the family history of malignancies in patients with invasive ductal carcinoma (IDC) of the breast and ILC treated in our Medical Center. The comparison was evaluated in both types of breast cancer groups, dividing the patients into two age groups, cancer was reported in 7.2 % in the ILC group as compared to 2.3 % in the IDC group, P cancer was more common in the ILC group as opposed to the IDC group, 18 versus 8.1 % respectively, P = 0.002 and persisted in both age groups. We conclude that a family history of malignancies in first degree relatives is more common in patients with ILC than IDC and that there is a significant association between a family history of gastric cancer and ILC.

  16. Long-term effects of first degree family history of breast cancer in young women: Recurrences and bilateral breast cancer

    NARCIS (Netherlands)

    Jobsen, Jan J.; van der Palen, Jacobus Adrianus Maria; Brinkhuis, Mariël; Ong, Francisca; Struikmans, Henk

    2016-01-01

    Background. The aim of this study is to analyze the impact of first degree relative (FDR) of young breast cancer patients. Methods. Data were used from our prospective population-based cohort study which started in 1983. The family history (FH) was registered with regard to FDR: the presence or

  17. Asymptotic Properties of the Number of Matching Coalescent Histories for Caterpillar-Like Families of Species Trees.

    Science.gov (United States)

    Disanto, Filippo; Rosenberg, Noah A

    2016-01-01

    Coalescent histories provide lists of species tree branches on which gene tree coalescences can take place, and their enumerative properties assist in understanding the computational complexity of calculations central in the study of gene trees and species trees. Here, we solve an enumerative problem left open by Rosenberg (IEEE/ACM Transactions on Computational Biology and Bioinformatics 10: 1253-1262, 2013) concerning the number of coalescent histories for gene trees and species trees with a matching labeled topology that belongs to a generic caterpillar-like family. By bringing a generating function approach to the study of coalescent histories, we prove that for any caterpillar-like family with seed tree t , the sequence (h n ) n ≥ 0 describing the number of matching coalescent histories of the n th tree of the family grows asymptotically as a constant multiple of the Catalan numbers. Thus, h n  ∼ β t c n , where the asymptotic constant β t > 0 depends on the shape of the seed tree t. The result extends a claim demonstrated only for seed trees with at most eight taxa to arbitrary seed trees, expanding the set of cases for which detailed enumerative properties of coalescent histories can be determined. We introduce a procedure that computes from t the constant β t as well as the algebraic expression for the generating function of the sequence (h n ) n ≥ 0 .

  18. Can family history and cord blood IgE predict sensitization and allergic diseases up to adulthood?

    DEFF Research Database (Denmark)

    Borrits Pagh Nissen, Susanne; Fomsgaard Kjær, Henrik; Høst, Arne

    2015-01-01

    with high NPV and specificity, but low PPV and sensitivity. CONCLUSION: Although family history and elevated CB-IgE were significantly associated with primarily atopic disease until 26 yr, none of these were strong predictors for subsequent sensitization and allergic symptoms from childhood until early......BACKGROUND: Long-term studies of the predictive value of family history and cord blood IgE level until adulthood are few, and their conclusions have been contradictory. METHODS: Screening of total IgE in 1617 cord blood samples was performed in a Danish birth cohort. All infants with cord blood Ig...... used. RESULTS: A total of 455 infants were included, 188 with CB-IgE ≥0.5 kU/l and 267 with CB-IgE history and elevated CB-IgE were significantly associated to allergic disease until 26 yr. Concerning any allergic...

  19. Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice

    Directory of Open Access Journals (Sweden)

    Megan Doerr

    2014-03-01

    Full Text Available Family health history is a leading predictor of disease risk. Nonetheless, it is underutilized to guide care and, therefore, is ripe for health information technology intervention. To fill the family health history practice gap, Cleveland Clinic has developed a family health history collection and clinical decision support tool, MyFamily. This report describes the impact and process of implementing MyFamily into primary care, cancer survivorship and cancer genetics clinics. Ten providers participated in semi-structured interviews that were analyzed to identify opportunities for process improvement. Participants universally noted positive effects on patient care, including increases in quality, personalization of care and patient engagement. The impact on clinical workflow varied by practice setting, with differences observed in the ease of integration and the use of specific report elements. Tension between the length of the report and desired detail was appreciated. Barriers and facilitators to the process of implementation were noted, dominated by the theme of increased integration with the electronic medical record. These results fed real-time improvement cycles to reinforce clinician use. This model will be applied in future institutional efforts to integrate clinical genomic applications into practice and may be useful for other institutions considering the implementation of tools for personalizing medical management.

  20. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study

    DEFF Research Database (Denmark)

    Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen

    2011-01-01

    Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.......Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice....

  1. Family History of Type 2 Diabetes is Associated with Metabolic Syndrome in Obese Female Subjects

    Directory of Open Access Journals (Sweden)

    Ticiana Costa Rodrigues

    2008-08-01

    Full Text Available The aim of this study was to evaluate the association between the family history (FH of type 2 diabetes and metabolic syndrome (MetS in a group of non-diabetic obese female subjects. A cross-sectional study was conducted in 239 female patients with obesity, regularly attending the Internal Medicine Division’s outpatient clinic (Hospital de Clínicas de Porto Alegre, Brazil. The inclusion criteria were patients with body mass index ?30 kg/m2 and absence of type 2 diabetes. The FH was considered positive if a first degree relative had a diagnosis of diabetes. Seventy-four of 239 patients evaluated (30% had a positive FH for type 2 diabetes. Patients with positive FH had higher waist/hip ratio and MetS more often than patients with negative FH. FH of type 2 diabetes was associated with MetS in this sample of non-diabetic obese female patients. Waist/hip ratio and fasting plasma glucose, markers of insulin resistance, were also associated with FH of type 2 diabetes. The simple question: “Do you have a FH of type 2 diabetes?” may help to identify the obese patients that should be better evaluated and intensively treated with the objective of preventing type 2 diabetes.

  2. Psychosocial and neural indicators of resilience among youth with a family history of substance use disorder.

    Science.gov (United States)

    Martz, Meghan E; Zucker, Robert A; Schulenberg, John E; Heitzeg, Mary M

    2018-04-01

    Little is known regarding the combined influence of psychosocial and neural protective mechanisms against substance use. The present study examined the extent to which neuroimaging measures of disinhibition predicted resilience against binge drinking and marijuana use among youth with a family history of substance use disorder (SUD; FH+), accounting for psychosocial measures of behavioral control. Participants were 57 FH+ youth from the Michigan Longitudinal Study categorized into resilient and high-risk groups based on patterns of weekly binge drinking and monthly marijuana use during early adulthood. Psychosocial measures of behavioral control (reactive control and externalizing behavior during early and late adolescence) and neural measures of disinhibition (Go/No-Go task and Monetary Incentive Delay Task (MIDT) measured through functional magnetic resonance imaging (fMRI)) were entered sequentially in hierarchical logistic regression models to predict resilient versus high-risk groups. Greater activation in the right dorsolateral prefrontal cortex (DLPFC) during correctly inhibited trials on the Go/No-Go task was a significant predictor of resilience (OR = 2.46, p accounting for psychosocial measures of behavioral control. Copyright © 2018 Elsevier B.V. All rights reserved.

  3. Factors associated with young adults' knowledge regarding family history of Stroke.

    Science.gov (United States)

    Lima, Maria Jose Melo Ramos; Moreira, Thereza Maria Magalhães; Florêncio, Raquel Sampaio; Braga, Predro

    2016-11-21

    to analyze the factors associated with young adults' knowledge regarding family history of stroke. an analytical transversal study, with 579 young adults from state schools, with collection of sociodemographic, clinical and risk factor-related variables, analyzed using logistic regression (backward elimination). a statistical association was detected between age, civil status, and classification of arterial blood pressure and abdominal circumference with knowledge of family history of stroke. In the final logistic regression model, a statistical association was observed between knowledge regarding family history of stroke and the civil status of having a partner (ORa=1.61[1.07-2.42]; p=0.023), abdominal circumference (ORa=0.98[0.96-0.99]; p=0.012) and normal arterial blood pressure (ORa=2.56[1.19-5.52]; p=0.016). an association was observed between socioeconomic factors and risk factors for stroke and knowledge of family history of stroke, suggesting the need for health education or even educational programs on this topic for the clientele in question. analisar os fatores associados ao conhecimento dos adultos jovens sobre histórico familiar de Acidente Vascular Cerebral (AVC). estudo transversal analítico, com 579 adultos jovens de escolas públicas, com coleta de variáveis sociodemográficas, clínicas e de fatores de risco em formulário, analisados utilizando-se regressão logística (backward elimination). detectou-se associação estatística de idade, situação conjugal, classificação da pressão arterial e circunferência abdominal com conhecimento do histórico familiar de AVC. No modelo final de regressão logística, observou-se associação estatística do conhecimento sobre histórico familiar de AVC com situação conjugal com companheiro (ORa=1,61[1,07-2,42]; p=0,023), circunferência abdominal (ORa=0,98[0,96-0,99]; p=0,012) e pressão arterial normal (ORa=2,56[1,19-5,52]; p=0,016). foi constatada associação de fatores socioeconômicos e de

  4. The association between social skills deficits and family history of mood disorder in bipolar I disorder.

    Science.gov (United States)

    Fernandes, Francy B F; Rocca, Cristiana C; Gigante, Alexandre D; Dottori-Silva, Paola R; Gerchmann, Luciana; Rossini, Danielle; Sato, Rodrigo; Lafer, Beny; Nery, Fabiano G

    2018-03-26

    To compare social skills and related executive functions among bipolar disorder (BD) patients with a family history of mood disorders (FHMD), BD patients with no FHMD and healthy control (HCs). We evaluated 20 euthymic patients with FHMD, 17 euthymic patients without FHMD, and 31 HCs using the Social Skills Inventory (SSI) and a neuropsychological battery evaluating executive function, inhibitory control, verbal fluency and estimated intelligence. Both BD groups had lower SSI scores than controls. Scores for one subfactor of the social skills questionnaire, conversational skills and social performance, were significantly lower among patients with FHMD than among patients without FHMD (p = 0.019). Both groups of BD patients exhibited significant deficits in initiation/inhibition, but only BD patients with FHMD had deficits in verbal fluency, both compared to HC. There were no associations between social skills questionnaire scores and measures of cognitive function. Euthymic BD patients have lower social skills and executive function performance than HC. The presence of FHMD among BD patients is specifically associated with deficits in conversational and social performance skills, in addition to deficits in verbal fluency. Both characteristics might be associated with a common genetically determined pathophysiological substrate.

  5. Low serum adiponectin levels in Korean children with a family history of type 2 diabetes mellitus.

    Science.gov (United States)

    Oh, Yeon Joung; Nam, Hyo-Kyoung; Rhie, Young Jun; Park, Sang Hee; Lee, Kee-Hyoung

    2012-01-01

    The current worldwide increases of type 2 diabetes mellitus (T2DM) in children coincide with increases in the prevalence of obesity. We investigated the insulin resistance and adiponectin levels of children and adolescents with a family history of T2DM (FHD). Our sample included 131 children and adolescents aged 8-15 years. Fasting plasma glucose, lipids, fasting insulin, adiponectin levels and HOMA-IR were analyzed according to FHD and obesity. Oral glucose tolerance tests were performed in all subjects except non-obese subjects without FHD. Adiponectin levels of subjects with FHD were significantly lower than those of subjects without FHD in both the obese and nonobese groups. HOMA-IR was significantly higher in obese subjects with FHD than in those without FHD. Adiponectin levels were found to be independently associated with FHD and Matsuda index. The frequency of impaired glucose tolerance in obese subjects with FHD was more than four times higher compared to obese subjects without FHD. Our results suggest that FHD could be a risk factor of T2DM in obese Korean children, especially with low serum levels of adiponectin.

  6. Family history of hypertension and left ventricular mass in youth: possible mediating parameters.

    Science.gov (United States)

    Cook, B B; Treiber, F A; Mensah, G; Jindal, M; Davis, H C; Kapuku, G K

    2001-04-01

    Whether positive family history (FH) of essential hypertension (EH) in normotensive youth is associated with increased left ventricular mass (LVM) and hemodynamic, anthropometric, and demographic parameters previously associated with increased LVM in adults is unknown. To examine these issues, 323 healthy youth (mean age, 13.6 +/- 1.3 years), 194 with positive FH of EH (61% African Americans, 39% whites) and 129 with negative FH of EH (33% African Americans, 67% whites) were evaluated. Hemodynamics were measured at rest and during four stressors (ie, postural change, car driving simulation, video game, forehead cold). Echocardiographic-derived measures of LVM were indexed separately to body surface area and height(2.7). Controlling for age and race differences (ie, 74% of African Americans v 47% of whites had positive FH), the positive FH group exhibited greater LVM/height(2.7), LVM/body surface area, higher systolic (SBP) and diastolic blood pressures (DBP), and total peripheral resistance index (TPRI) and lower cardiac index at rest (P men), general adiposity, resting cardiac index and blood pressure (BP), and TPRI responsivity to video game and cold stimulation (P < .05 for all). Thus, greater LVM index in positive FH of EH youth appears in part related to their greater BP and TPRI at rest and during stress.

  7. Comparison of lifestyle risk factors by family history for gastric, breast, lung and colorectal cancer.

    Science.gov (United States)

    Huang, Xin-En; Hirose, Kaoru; Wakai, Kenji; Matsuo, Keitaro; Ito, Hidemi; Xiang, Jin; Takezaki, Toshiro; Tajima, Kazuo

    2004-01-01

    To assess the theoretical impact of lifestyle of a cancer family history in first-degree relatives (CFH) and clarify interactions between CFH and lifestyle factors, hospital-based comparison and case-reference studies were conducted in Nagoya, Japan. Totals of 1988 gastric, 2455 breast, 1398 lung and 1352 colorectal cancer patients, as well as 50,706 non-cancer outpatients collected from 1988 to 1998, were checked for lifestyle factors, which included dietary and physical exercise habits, as well as smoking/drinking status. General lifestyle factors with non-cancer outpatients did not differ by the CFH status. Case-reference analyses showed that frequent intake of fruits, raw vegetables, carrots, pumpkin, cabbage and lettuce, as well as frequent physical exercise, were associated with decreased risk for all four sites of cancer, while habitual smoking increasing the risk of gastric, and more particularly, lung cancer. Interestingly, the study revealed the magnitude of odds ratios for the above lifestyle factors obtained from CFH positives to be similar to those from CFH negatives for these four sites of cancer. There were no significant interactions between CFH and any particular lifestyle factor. In conclusion, our results suggest no appreciable influence of CFH on lifestyle related risk factors for gastric, breast, lung, and colorectal cancer. Habitual smoking increased, while frequent physical exercise and raw vegetables intake decreased cancer risk, regardless of the CFH status.

  8. Ice cream headache in students and family history of headache: a cross-sectional epidemiological study.

    Science.gov (United States)

    Zierz, Antonia Maria; Mehl, Theresa; Kraya, Torsten; Wienke, Andreas; Zierz, Stephan

    2016-06-01

    Headache attributed to ingestion of a cold stimulus (ICHD-3 beta 4.5.1) is also known as ice cream headache (ICH). This cross-sectional epidemiological study included 283 students (10-14-year-olds) attending a grammar school in Germany, their parents (n = 401), and 41 teachers. A self-administered questionnaire was used to analyze the prevalence and characteristics of ICH based on the ICHD classification. Additionally, the association between ICH and other headaches was investigated in students and parents. Prevalence of ICH in students was 62 % without gender difference. In adults, only 36 % of females and 22 % of males reported ICH. There was an increased risk for ICH in students when mother (OR 10.7) or father (OR 8.4) had ICH. Other headaches in parents had no influence on the prevalence of ICH in students. However, in the groups of students and parents itself there was a highly significant association between ICH and other headaches (students: OR 2.4, mothers: OR 2.9, fathers: OR 6.8). There was a decreased risk for ICH when parents and students had no headache at all (OR < 0.4). ICH in students clearly shows a familial disposition by both father and mother. There was also an association between ICH and other headaches within the student and adult groups. The absence of headache history seems to be a protective factor for ICH.

  9. Family history of completed suicide and characteristics of major depressive disorder: a STAR*D (sequenced treatment alternatives to relieve depression) study.

    Science.gov (United States)

    Nierenberg, Andrew A; Alpert, Jonathan E; Gaynes, Bradley N; Warden, Diane; Wisniewski, Stephen R; Biggs, Melanie M; Trivedi, Madhukar H; Barkin, Jennifer L; Rush, A John

    2008-05-01

    Clinicians routinely ask patients with non-psychotic major depressive disorder (MDD) about their family history of suicide. It is unknown, however, whether patients with a family member who committed suicide differ from those without such a history. Patients were recruited for the STAR*D multicenter trial. At baseline, patients were asked to report first-degree relatives who had died from suicide. Differences in demographic and clinical features for patients with and without a family history of suicide were assessed. Patients with a family history of suicide (n=142/4001; 3.5%) were more likely to have a family history of MDD, bipolar disorder, or any mood disorder, and familial substance abuse disorder, but not suicidal thoughts as compared to those without such a history. The group with familial suicide had a more pessimistic view of the future and an earlier age of onset of MDD. No other meaningful differences were found in depressive symptoms, severity, recurrence, depressive subtype, or daily function. A history of completed suicide in a family member was associated with minimal clinical differences in the cross-sectional presentation of outpatients with MDD. Limitations of the study include lack of information about family members who had attempted suicide and the age of the probands when their family member died. STAR*D assessments were limited to those needed to ascertain diagnosis and treatment response and did not include a broader range of psychological measures.

  10. History of Family Psychiatry: From the Social Reform Era to the Primate Social Organ System.

    Science.gov (United States)

    Kramer, Douglas A

    2015-07-01

    From early twentieth century social reform movements emerged the ingredients for both child and family psychiatry. Both psychiatries that involve children, parents, and families began in child guidance clinics. Post-World War II intellectual creativity provided the epistemological framework for treating families. Eleven founders (1950-1969) led the development of family psychiatry. Child and family psychiatrists disagreed over the issues of individual and family group dynamics. Over the past 25 years the emerging sciences of interaction, in the context of the Primate Social Organ System (PSOS), have produced the evidence for the family being the entity of treatment in psychiatry. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Presymptomatic identification of CDH1 germline mutation in a healthy korean individual with family history of gastric cancer.

    Science.gov (United States)

    Choi, Hyun-Jung; Ki, Chang-Seok; Suh, Soon-Pal; Kim, Jong-Won

    2014-09-01

    Gastric cancer (GC) is one of the most common cancers with high morbidity and mortality. Familial GC is seen in 10% of cases, and approximately 3% of familial GC cases arise owing to hereditary diffuse gastric cancer (HDGC). CDH1, which encodes the protein E-cadherin, is the only gene whose mutations are associated with HDGC. Screening for the familial GC-predisposing gene has been neglected in high-risk countries such as Korea, China, and Japan, where all the cases have been attributed to Helicobacter pylori or other carcinogens. Screening for the GC-causing CDH1 mutation may provide valuable information for genetic counseling, testing, and risk-reduction management for the as-yet unaffected family members. An asymptomatic 44-yr-old Korean male visited our genetic clinic for consultation owing to his family history of GC. Eventually, c.1018A>G in CDH1, a known disease-causing mutation, was found. As of the publication time, the individual is alive without the evidence of GC, and is on surveillance. To our knowledge, this is the first Korean case of presymptomatic detection of CDH1 mutation, and it highlights the importance of genetic screening for individuals with a family history of GC, especially in high-risk geographical areas.

  12. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

    Science.gov (United States)

    Pinheiro, Maisa; Drigo, Sandra Aparecida; Tonhosolo, Renata; Andrade, Sonia C.S.; Marchi, Fabio Albuquerque; Jurisica, Igor; Kowalski, Luiz Paulo; Achatz, Maria Isabel; Rogatto, Silvia Regina

    2017-01-01

    Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant. Although the proband of the F3 with PTC was HABP2 wild type, three relatives presented the variant. Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. These findings suggested no association of this variant with our familial PTC cases. Genes potentially associated with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that other cancer-associated genes have pathogenic effects in the risk of familial PTC development. PMID:28402931

  13. Medical history, lifestyle, family history, and occupational risk factors for adult acute lymphocytic leukemia: the InterLymph Non-Hodgkin Lymphoma Subtypes Project.

    Science.gov (United States)

    Skibola, Christine F; Slager, Susan L; Berndt, Sonja I; Lightfoot, Tracy; Sampson, Joshua N; Morton, Lindsay M; Weisenburger, Dennis D

    2014-08-01

    Acute lymphoblastic leukemia/lymphoma (ALL) in adults is a rare malignancy with a poor clinical outcome, and few reported etiologic risk factors. We performed an exploratory pooled study of 152 ALL cases and 23096 controls from 16 case-control studies to investigate the role of medical history, lifestyle, family history, and occupational risk factors and risk of ALL. Age- race/ethnicity-, sex-, and study-adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression. An increased risk of ALL was found in those with a family history of a hematological malignancy (OR = 2.6, 95% CI = 1.22 to 5.54) and in leather (OR = 3.91, 95% CI = 1.35 to 11.35) and sewing/embroidery workers (OR = 2.92, 95% CI = 1.00 to 8.49). Consumers of alcohol had an increased risk of B-cell ALL (OR = 2.87, 95% CI = 1.18 to 6.95). The small number of statistically significant risk factors identified out of the 112 variables examined could be chance findings and will require further replication to assess their role in the etiology of adult ALL. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  14. The Construction of History in the Folds of Family History in the Novel Song Lost in West Buenos Aires by María Rosa Lojo

    Directory of Open Access Journals (Sweden)

    Zulema Moret

    2002-06-01

    Full Text Available The novels written by María Rosa Lojo strongly reflect a specific preoccupation with the rewriting of history from new perspectives that are related to so-called postmodernism. This is the case with Canción perdida en Buenos Aires al Oeste (1987. This work attempts to articulate a reading of the "private" at a crossroads with the history of the country and of other countries (Argentina/Spain. It is a novel of exiles, from the exile of the Neira family from the Franco dictatorship in the forties to the particular exiles of each family member during the seventies and eighties in Argentina. From the fabric woven of the protagonists' subjectivities, the history of horror of this decade emerges: the Malvinas/Falkland Island War, the disappeared, that which "cannot be spoken." To carry out this ambitious narrative, each character, each voice unfolds through a series of strategies linked to constructions of the "self": letters, diaries and recordings.

  15. Respiratory Epithelium Lined Cyst of the Maxilla: Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    C. P. Martinelli-Kläy

    2017-01-01

    Full Text Available Maxillary cysts, including the cysts lined by respiratory epithelium, can present a diagnostic challenge. We report an unusual case of a maxillary cyst on an endodontically treated tooth #16, in which the cavity was totally lined by a respiratory epithelium. The patient, a 35-year-old male, presented with a generalized chronic periodontitis and complained of a pain in the tooth #16 region. A periodontal pocket extending to the root apices with pus coming out from the gingival was found. A combined endodontic periodontal was observed on a panoramic radiography. CBCT-scan revealed a well-circumscribed radiolucent lesion at the apices of the distobuccal root of the 16. A communication with the right maxillary sinus cavity and a maxillary and ethmoidal sinusitis were also observed. The lesion was removed and histological examination revealed a cyst lined exclusively by respiratory epithelium. Ciliated and rare mucous cells were also observed. The diagnosis could evoke a surgical ciliated cyst mimicking the radicular cyst but the patient has no previous history of trauma or surgery in the maxillofacial region. It could also be an unusual radicular cyst in which the stratified squamous epithelium was destroyed by inflammation and replaced by a respiratory epithelium of the maxillary sinus.

  16. Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives

    NARCIS (Netherlands)

    Janssens, A.C.J.W.; Henneman, L.; Detmar, S.B.; Khoury, M.J.; Steyerberg, E.W.; Eijkemans, M.J.C.; Mushkudiani, N.; Oostra, B.A.; Duijn, C.M. van; MacKenbach, J.P.

    2012-01-01

    Objective: We investigated the accuracy of self-reported family history for diabetes, hypertension, and overweight against two reference standards: family history based on physician-assessed health status of relatives and on self-reported personal health status of relatives. Study Design and

  17. Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score

    Directory of Open Access Journals (Sweden)

    Weigl K

    2018-01-01

    Full Text Available Korbinian Weigl,1,2 Jenny Chang-Claude,3,4 Phillip Knebel,5 Li Hsu,6 Michael Hoffmeister,1 Hermann Brenner1,2,7 1Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ, Heidelberg, 2German Cancer Consortium (DKTK, German Cancer Research Center (DKFZ, Heidelberg, 3Unit of Genetic Epidemiology, German Cancer Research Center (DKFZ, Heidelberg, 4University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, 5Department for General, Visceral and Transplantation Surgery, University Heidelberg, Heidelberg, Germany; 6Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA; 7Division of Preventive Oncology, German Cancer Research Center (DKFZ and National Center for Tumor Diseases (NCT, Heidelberg, Germany Background and aim: Family history (FH and genetic risk scores (GRSs are increasingly used for risk stratification for colorectal cancer (CRC screening. However, they were mostly considered alternatively rather than jointly. The aim of this study was to assess the potential of individual and joint risk stratification for CRC by FH and GRS.Patients and methods: A GRS was built based on the number of risk alleles in 53 previously identified single-nucleotide polymorphisms among 2,363 patients with a first diagnosis of CRC and 2,198 controls in DACHS [colorectal cancer: chances for prevention through screening], a population-based case-control study in Germany. Associations between GRS and FH with CRC risk were quantified by multiple logistic regression.Results: A total of 316 cases (13.4% and 214 controls (9.7% had a first-degree relative (FDR with CRC (adjusted odds ratio [aOR] 1.86, 95% CI 1.52–2.29. A GRS in the highest decile was associated with a 3.0-fold increased risk of CRC (aOR 3.00, 95% CI 2.24–4.02 compared with the lowest decile. This association was tentatively more pronounced in older age groups. FH and GRS were essentially unrelated, and their

  18. The association between adult mortality risk and family history of longevity: the moderating effects of socioeconomic status.

    Science.gov (United States)

    Temby, Owen F; Smith, Ken R

    2014-11-01

    Studies consistently show that increasing levels of socioeconomic status (SES) and having a familial history of longevity reduce the risk of mortality. But do these two variables interact, such that individuals with lower levels of SES, for example, may experience an attenuated longevity penalty by virtue of having long-lived relatives? This article examines this interaction by analysing survival past age 40 based on data from the Utah Population Database on an extinct cohort of men born from the years 1840 to 1909. Cox proportional hazards regression and logistic regression are used to test for the main and interaction mortality effects of SES and familial excess longevity (FEL), a summary measure of an individual's history of longevity among his or her relatives. This research finds that the mortality hazard rate for men in the top 15th percentile of occupational status decreases more as FEL increases than it does among men in the bottom 15th percentile. In addition, the mortality hazard rate among farmers decreases more as FEL increases than it does for non-farmers. With a strong family history of longevity as a proxy for a genetic predisposition, this research suggests that a gene-environment interaction occurs whereby the benefits of familial excess longevity are more available to those who have occupations with more autonomy and greater economic resources and/or opportunities for physical activity.

  19. Investigating diet and physical activity in Malaysia: education and family history of diabetes relate to lower levels of physical activity.

    Science.gov (United States)

    Tam, Cai Lian; Bonn, Gregory; Yeoh, Si Han; Wong, Chee Piau

    2014-01-01

    The National Health and Morbidity Survey (NHMS, 2011), estimates that the number of Malaysian adults suffering from type 2 diabetes has increased from 8.3 to 31.2% since 1996. This study is a preliminary investigation of possible factors contributing to this epidemic. Knowledge of diabetes, health locus of control, diet and exercise habits, as well as family history, education level and other demographic factors to better understand the correlates of risky and healthy behaviors. This was done as part of a larger initiative to improve prevention efforts. Questionnaires were completed by 770 individuals from three Malaysian states: Selangor, Penang, and Terengganu. Findings showed that people with better health knowledge and those who have a family history of type 2 diabetes were more likely to have healthy diets. Also, health knowledge related to lower alcohol consumption. Participants with diabetic family members, however, also reported higher levels of stress. Counterintuitively, higher educational levels, higher internal locus of control, better health knowledge, as well as a family history of diabetes all correlated with lower levels of physical activity. Thus, it is suggested that, while increasing health knowledge will be important in addressing the type 2 diabetes epidemic in Malaysia, especially in relation to diet, other cultural factors, specifically norms related to exercise and physical activity, also need to be addressed if the spread of type 2 diabetes is to be addressed over the long term.

  20. Investigating diet and physical activity in Malaysia: Education and family history of diabetes relate to lower levels of physical activity

    Directory of Open Access Journals (Sweden)

    Cai Lian eTam

    2014-12-01

    Full Text Available The National Health and Morbidity Survey (NHMS, 2011, estimates that the number of Malaysian adults suffering from type 2 diabetes has increased from 8.3% to 31.2% since 1996. This study is a preliminary investigation of possible factors contributing to this epidemic. Knowledge of diabetes, health locus of control, diet and exercise habits, as well as family history, education level and other demographic factors to better understand the correlates of risky and healthy behaviours. This was done as part of a larger initiative to improve prevention efforts. Questionnaires were completed by 770 individuals from three Malaysian states: Selangor, Penang, and Terengganu. Findings showed that people with better health knowledge and those who have a family history of type 2 diabetes were more likely to have healthy diets. Also, health knowledge related to lower alcohol consumption. Participants with diabetic family members, however, also reported higher levels of stress. Counterintuitively, higher educational levels, higher internal locus of control, better health knowledge, as well as a family history of diabetes all correlated with lower levels of physical activity. Thus, it is suggested that, while increasing health knowledge will be important in addressing the type 2 diabetes epidemic in Malaysia, especially in relation to diet, other cultural factors, specifically norms related to exercise and physical activity, also need to be addressed if the spread of type 2 diabetes is to be addressed over the long term.

  1. Association between family history of mood disorders and clinical characteristics of bipolar disorder: results from the Brazilian bipolar research network.

    Science.gov (United States)

    Berutti, Mariangeles; Nery, Fabiano G; Sato, Rodrigo; Scippa, Angela; Kapczinski, Flavio; Lafer, Beny

    2014-06-01

    To compare clinical characteristics of bipolar disorder (BD) in patients with and without a family history of mood disorders (FHMD) in a large sample from the Brazilian Research Network of Bipolar Disorders. Four-hundred eighty-eight DSM-IV BD patients participating in the Brazilian Research Network of Bipolar Disorders were included. Participants were divided between those with FHMD (n=230) and without FHMD (n=258). We compared these two groups on demographic and clinical variables and performed a logistic regression to identify which variables were most strongly associated with positive family history of mood disorders. BD patients with FHMD presented with significantly higher lifetime prevalence of any anxiety disorder, obsessive-compulsive disorder, social phobia, substance abuse, and were more likely to present history of suicide attempts, family history of suicide attempts and suicide, and more psychiatric hospitalizations than BD patients without FHMD. Logistic regression showed that the variables most strongly associated with a positive FHMD were any comorbid anxiety disorder, comorbid substance abuse, and family history of suicide. Cross-sectional study and verification of FHMD by indirect information. BD patients with FHMD differ from BD patients without FHMD in rates of comorbid anxiety disorder and substance abuse, number of hospitalizations and suicide attempts. As FHMD is routinely assessed in clinical practice, these findings may help to identify patients at risk for particular manifestations of BD and may point to a common, genetically determined neurobiological substrate that increases the risk of conditions such as comorbidities and suicidality in BD patients. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Tumor characteristics and family history in relation to mammographic density and breast cancer: The French E3N cohort.

    Science.gov (United States)

    Maskarinec, Gertraud; Dartois, Laureen; Delaloge, Suzette; Hopper, John; Clavel-Chapelon, Françoise; Baglietto, Laura

    2017-08-01

    Mammographic density is a known heritable risk factor for breast cancer, but reports how tumor characteristics and family history may modify this association are inconsistent. Dense and total breast areas were assessed using Cumulus™ from pre-diagnostic mammograms for 820 invasive breast cancer cases and 820 matched controls nested within the French E3N cohort study. To allow comparisons across models, percent mammographic density (PMD) was standardized to the distribution of the controls. Odds ratios (OR) and 95% confidence intervals (CI) of breast cancer risk for mammographic density were estimated by conditional logistic regression while adjusting for age and body mass index. Heterogeneity according to tumor characteristic and family history was assessed using stratified analyses. Overall, the OR per 1 SD for PMD was 1.50 (95% CI, 1.33-1.69). No evidence for significant heterogeneity by tumor size, lymph node status, grade, and hormone receptor status (estrogen, progesterone, and HER2) was detected. However, the association of PMD was stronger for women reporting a family history of breast cancer (OR 1SD =2.25; 95% CI, 1.67-3.04) than in women reporting none (OR 1SD =1.41; 95% CI, 1.24-1.60; p heterogeneity =0.002). Similarly, effect modification by FHBC was observed using categories of PMD (p heterogeneity =0.02) with respective ORs of 15.16 (95% CI, 4.23-54.28) vs. 3.14 (95% CI, 1.89-5.22) for ≥50% vs. breast cancer risk with a family history supports the hypothesis of shared genetic factors responsible for familial aggregation of breast cancer and the heritable component of mammographic density. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Mammographic density and breast cancer risk by family history in women of white and Asian ancestry.

    Science.gov (United States)

    Maskarinec, Gertraud; Nakamura, Kaylae L; Woolcott, Christy G; Conroy, Shannon M; Byrne, Celia; Nagata, Chisato; Ursin, Giske; Vachon, Celine M

    2015-04-01

    Mammographic density, i.e., the radiographic appearance of the breast, is a strong predictor of breast cancer risk. To determine whether the association of breast density with breast cancer is modified by a first-degree family history of breast cancer (FHBC) in women of white and Asian ancestry, we analyzed data from four case-control studies conducted in the USA and Japan. The study population included 1,699 breast cancer cases and 2,422 controls, of whom 45% reported white (N = 1,849) and 40% Asian (N = 1,633) ancestry. To standardize mammographic density assessment, a single observer re-read all mammograms using one type of interactive thresholding software. Logistic regression was applied to estimate odds ratios (OR) while adjusting for confounders. Overall, 496 (12%) of participants reported a FHBC, which was significantly associated with breast cancer risk in the adjusted model (OR 1.51; 95% CI 1.23-1.84). There was a statistically significant interaction on a multiplicative scale between FHBC and continuous percent density (per 10 % density: p = 0.03). The OR per 10% increase in percent density was higher among women with a FHBC (OR 1.30; 95% CI 1.13-1.49) than among those without a FHBC (OR 1.14; 1.09-1.20). This pattern was apparent in whites and Asians. The respective ORs were 1.45 (95% CI 1.17-1.80) versus 1.22 (95% CI 1.14-1.32) in whites, whereas the values in Asians were only 1.24 (95% CI 0.97-1.58) versus 1.09 (95% CI 1.00-1.19). These findings support the hypothesis that women with a FHBC appear to have a higher risk of breast cancer associated with percent mammographic density than women without a FHBC.

  4. Sex and family history of cardiovascular disease influence heart rate variability during stress among healthy adults.

    Science.gov (United States)

    Emery, Charles F; Stoney, Catherine M; Thayer, Julian F; Williams, DeWayne; Bodine, Andrew

    2018-07-01

    Studies of sex differences in heart rate variability (HRV) typically have not accounted for the influence of family history (FH) of cardiovascular disease (CVD). This study evaluated sex differences in HRV response to speech stress among men and women (age range 30-49 years) with and without a documented FH of CVD. Participants were 77 adults (mean age = 39.8 ± 6.2 years; range: 30-49 years; 52% female) with positive FH (FH+, n = 32) and negative FH (FH-, n = 45) of CVD, verified with relatives of participants. Cardiac activity for all participants was recorded via electrocardiogram during a standardized speech stress task with three phases: 5-minute rest, 5-minute speech, and 5-minute recovery. Outcomes included time domain and frequency domain indicators of HRV and heart rate (HR) at rest and during stress. Data were analyzed with repeated measures analysis of variance, with sex and FH as between subject variables and time/phase as a within subject variable. Women exhibited higher HR than did men and greater HR reactivity in response to the speech stress. However, women also exhibited greater HRV in both the time and frequency domains. FH+ women generally exhibited elevated HRV, despite the elevated risk of CVD associated with FH+. Although women participants exhibited higher HR at rest and during stress, women (both FH+ and FH-) also exhibited elevated HRV reactivity, reflecting greater autonomic control. Thus, enhanced autonomic function observed in prior studies of HRV among women is also evident among FH+ women during a standardized stress task. Copyright © 2018 Elsevier Inc. All rights reserved.

  5. Impaired glucose homeostasis in non-diabetic Greek hypertensives with diabetes family history. Effect of the obesity status.

    Science.gov (United States)

    Vyssoulis, Gregory P; Liakos, Charalampos I; Karpanou, Eva A; Triantafyllou, Athanasios I; Michaelides, Andreas P; Tzamou, Vanessa E; Markou, Maria I; Stefanadis, Christodoulos I

    2013-01-01

    Arterial hypertension (AH) and diabetes mellitus (DM) are established cardiovascular risk factors. Impaired glucose homeostasis (IGH; impaired fasting glucose or/and impaired glucose tolerance) or pre-diabetes, obesity, and DM family history identify individuals at risk for type 2 DM in whom preventive interventions are necessary. The aim of this study was to determine the glycemic profile in non-diabetic Greek adult hypertensive men and women according to DM family history and the obesity status. Diabetes family history, obesity markers (waist-to-hip ratio, WHR; body mass index, BMI), glycemic parameters (fasting and 2-hour post-load plasma glucose, if necessary; glycated hemoglobin, HbA1c; fasting insulin), insulin resistance indices (homeostasis model assessment, HOMA; quantitative insulin sensitivity check index, QUICKI; Bennett; McAuley), and IGH prevalence were determined in a large cohort of 11,540 Greek hypertensives referred to our institutions. Positive DM family history was associated with elevated fasting glucose (98.6 ± 13.1 vs 96.5 ± 12.3 mg/dL), HbA1c (5.58% ± 0.49% vs 5.50% ± 0.46%), fasting insulin (9.74 ± 4.20 vs 9.21 ± 3.63 μU/mL) and HOMA (2.43 ± 1.19 vs 2.24 ± 1.01) values, lower QUICKI (0.342 ± 0.025 vs 0.345 ± 0.023), Bennett (0.285 ± 0.081 vs 0.292 ± 0.078) and McAuley (6.73 ± 3.43 vs 6.95 ± 3.44) values, and higher IGH prevalence (45.3% vs 38.7%); P history was significant (P history present with higher IGH prevalence and worse glycemic indices levels compared with those with negative family history, especially in the higher WHR/BMI subgroups. Copyright © 2013 American Society of Hypertension. Published by Elsevier Inc. All rights reserved.

  6. Increased Pre- and Early-Adolescent Stress in Youth with a Family History of Substance Use Disorder and Early Substance Use Initiation.

    Science.gov (United States)

    Charles, Nora E; Mathias, Charles W; Acheson, Ashley; Bray, Bethany C; Ryan, Stacy R; Lake, Sarah L; Liang, Yuanyuan; Dougherty, Donald M

    2015-10-01

    Individuals with a family history of substance use disorders (Family History Positive) are more likely to have early-onset substance use (i.e., prior to age 15), which may contribute to their higher rates of substance use disorders. One factor that may differentiate Family History Positive youth who engage in early-onset substance use from other Family History Positive youth is exposure to stressors. The aim of this study was to quantify how exposure to stressors from age 11-15 varies as a function of family history of substance use disorders and early-onset substance use. Self-reported stressors were prospectively compared in a sample of predominately (78.9%) Hispanic youth that included 68 Family History Positive youth (50% female) who initiated substance use by age 15 and demographically matched non-users with (n = 136; 52.9% female) and without (n = 75; 54.7% female) family histories of substance use disorders. Stressors were assessed at 6-month intervals for up to 4 years. Both the severity of stressors and the degree to which stressors were caused by an individual's own behavior were evaluated. All three groups differed from one another in overall exposure to stressors and rates of increase in stressors over time, with Family History Positive youth who engaged in early-onset substance use reporting the greatest exposure to stressors. Group differences were more pronounced for stressors caused by the participants' behavior. Family History Positive users had higher cumulative severity of stressors of this type, both overall and across time. These results indicate greater exposure to stressors among Family History Positive youth with early-onset substance use, and suggest that higher rates of behavior-dependent stressors may be particularly related to early-onset use.

  7. Joint Effect of Childhood Abuse and Family History of Major Depressive Disorder on Rates of PTSD in People with Personality Disorders

    OpenAIRE

    Flory, Janine D.; Yehuda, Rachel; Passarelli, Vincent; Siever, Larry J.

    2012-01-01

    Objective. Childhood maltreatment and familial psychopathology both lead to an increased risk of the development of posttraumatic stress disorder (PTSD) in adulthood. While family history of psychopathology has traditionally been viewed as a proxy for genetic predisposition, such pathology can also contribute to a stress-laden environment for the child. Method. Analyses were conducted to evaluate the joint effect of childhood abuse and a family history of major depressive disorder (MDD) on di...

  8. Family history of psychiatric illness as a risk factor for schizoaffective disorder: a Danish register-based cohort study

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Labouriau, Rodrigo; Licht, Rasmus W

    2005-01-01

    BACKGROUND: Schizoaffective disorder may be related to both schizophrenia and bipolar disorders, but no population-based studies, to our knowledge, have investigated this association in families. OBJECTIVES: To determine whether a psychiatric history of schizoaffective disorder, bipolar disorder......, or schizophrenia among parents and siblings is a risk factor for developing a schizoaffective disorder, and whether a specific pattern of family history of psychiatric illness exists in persons with schizoaffective disorder compared with persons with bipolar disorder or schizophrenia. DESIGN: Register-based cohort...... study. SETTING: Denmark. COHORT: The 2.4 million persons born in Denmark after 1952. MAIN OUTCOME MEASURES: Relative risks of the 3 illnesses estimated by Poisson regression. RESULTS: In total, 1925 persons had a schizoaffective disorder, 3721 had a bipolar disorder, and 12 501 had schizophrenia...

  9. Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

    Science.gov (United States)

    Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

    2015-10-01

    Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

  10. Neutrophil-to-lymphocyte ratio predicting suicide risk in euthymic patients with bipolar disorder: Moderatory effect of family history.

    Science.gov (United States)

    Ivković, Maja; Pantović-Stefanović, Maja; Dunjić-Kostić, Bojana; Jurišić, Vladimir; Lačković, Maja; Totić-Poznanović, Sanja; Jovanović, Aleksandar A; Damjanović, Aleksandar

    2016-04-01

    Neutrophil-to-lymphocyte ratio (NLR) has been independently related to bipolar disorder (BD) and factors associated with suicidal risk. The aim of our study was to explore the relationship between NLR and suicide risk in euthymic BD patients. We also sought to propose a model of interaction between NLR and stress-diathesis factors, leading to suicidal risk in BD. The study group consisted of 83 patients diagnosed with BD (36 suicide attempters; 47 suicide non-attempters), compared to the healthy control group (n=73) and matched according to age, gender, and body mass index (BMI). NLR was measured according to the complete blood count. Mood symptoms have been assessed by Young Mania Rating Scale and Montgomery-Asberg Depression Rating Scale. Early trauma and acute stress were evaluated by Early Trauma Inventory Self Report-Short Form and List of Threatening Experiences Questionnaire, respectively. Suicide risk has been assessed by Suicide Behaviors Questionnaire-Revised (SBQ-R). Significant correlation was found between NLR and SBQ-R score. The main effects of suicide attempts on NLR, after covarying for confounders, were observed, indicating increased NLR in BD suicide attempters compared to healthy controls. We found significant moderatory effects of family history on NLR relationship to suicidal risk, with NLR being significant positive predictor of suicidal risk only in the patients with positive family history of suicide attempts. The results suggest an enhancing effect of positive family history of suicide attempts on predictive effect of NLR on suicide risk. Our data support the idea that immune markers can predict suicide attempt risk in BD, but only in the subpopulation of BD patients with family history of suicide attempts. This could lead to prevention in suicide behavior in the patient population at particular risk of suicide. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Investigating diet and physical activity in Malaysia: Education and family history of diabetes relate to lower levels of physical activity

    OpenAIRE

    Cai Lian eTam; Gregory eBonn; Gregory eBonn; Si Han eYeoh; Chee Piau eWong

    2014-01-01

    The National Health and Morbidity Survey (NHMS, 2011), estimates that the number of Malaysian adults suffering from type 2 diabetes has increased from 8.3% to 31.2% since 1996. This study is a preliminary investigation of possible factors contributing to this epidemic. Knowledge of diabetes, health locus of control, diet and exercise habits, as well as family history, education level and other demographic factors to better understand the correlates of risky and healthy behaviours. This was do...

  12. Investigating diet and physical activity in Malaysia: education and family history of diabetes relate to lower levels of physical activity

    OpenAIRE

    Tam, Cai Lian; Bonn, Gregory; Yeoh, Si Han; Wong, Chee Piau

    2014-01-01

    The National Health and Morbidity Survey (NHMS, 2011), estimates that the number of Malaysian adults suffering from type 2 diabetes has increased from 8.3 to 31.2% since 1996. This study is a preliminary investigation of possible factors contributing to this epidemic. Knowledge of diabetes, health locus of control, diet and exercise habits, as well as family history, education level and other demographic factors to better understand the correlates of risky and healthy behaviors. This was done...

  13. Impulsivity, Substance Abuse, and Family/Friends History of Suicide Attempts in University Students With and Without Suicidal Ideation

    OpenAIRE

    Ghaffari, Majid; Ahmadi, Ahmad; Abedi, Mohammad Reza; Fatehizade, Maryam; Baghban, Iran

    2011-01-01

    Objective: Impulsivity appears to play an important role in suicidal behavior. The aim of this cross-sectional study was to compare the impulsivity, substance abuse, and family/friends history of suicide attempt between suicide-ideated and non suicide-ideated university students. Methods: The research population consisted of all the students of the University of Isfahan in the academic year of 2009-2010. Three hundred and forty students (136 boys and 204 girls) were selected randomly through ...

  14. THE ASSOCIATION BETWEEN ADULT MORTALITY RISK AND FAMILY HISTORY OF LONGEVITY: THE MODERATING EFFECTS OF SOCIOECONOMIC STATUS

    OpenAIRE

    TEMBY, OWEN F.; SMITH, KEN R.

    2013-01-01

    Studies consistently show that increasing levels of socioeconomic status (SES) and having a familial history of longevity reduce the risk of mortality. But do these two variables interact, such that individuals with lower levels of SES, for example, may experience an attenuated longevity penalty by virtue of having long-lived relatives? This article examines this interaction by analysing survival past age 40 based on data from the Utah Population Database on an extinct cohort of men born from...

  15. Impact of family history on relations between insulin resistance, LDL cholesterol and carotid IMT in healthy adults.

    LENUS (Irish Health Repository)

    Anderwald, Christian

    2010-08-01

    Insulin resistance (IR) is implicated as an independent risk factor for vascular disease. The aim of this study was to assess the impact of family history (FH) of type 2 diabetes (T2DM) and\\/or cardiovascular disease (CVD) on the associations between IR, low-density-lipoprotein cholesterol (LDL-C) and subclinical atherosclerosis (common and internal carotid artery intima media thickness (IMT)) in healthy European adults.

  16. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

    Science.gov (United States)

    Cybulski, Cezary; Wokołorczyk, Dominika; Jakubowska, Anna; Huzarski, Tomasz; Byrski, Tomasz; Gronwald, Jacek; Masojć, Bartłomiej; Deebniak, Tadeusz; Górski, Bohdan; Blecharz, Paweł; Narod, Steven A; Lubiński, Jan

    2011-10-01

    To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). A truncating mutation (IVS2+1G>A, 1100delC, or del5395) was present in 227 patients (3.0%) and in 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR was higher for women with a first- or second-degree relative with breast cancer (OR, 5.0; 95% CI, 3.3 to 7.6) than for women with no family history (OR, 3.3; 95% CI, 2.3 to 4.7). If both a first- and second-degree relative were affected with breast cancer, the OR was 7.3 (95% CI, 3.2 to 16.8). Assuming a baseline risk of 6%, we estimate the lifetime risks for carriers of CHEK2 truncating mutations to be 20% for a woman with no affected relative, 28% for a woman with one second-degree relative affected, 34% for a woman with one first-degree relative affected, and 44% for a woman with both a first- and second-degree relative affected. CHEK2 mutation screening detects a clinically meaningful risk of breast cancer and should be considered in all women with a family history of breast cancer. Women with a truncating mutation in CHEK2 and a positive family history of breast cancer have a lifetime risk of breast cancer of greater than 25% and are candidates for magnetic resonance imaging screening and for tamoxifen chemoprevention.

  17. Association of inflammatory markers with physical activity, family history and other diabetic complications in patients of diabetic retinopathy

    International Nuclear Information System (INIS)

    Zaidi, A.; Rashif, A.; Waheed, P.; Ishaq, M.

    2017-01-01

    Objective: To study the association of inflammatory markers with physical activity, family history and other complications among patients of diabetic retinopathy. Study Design: Cross sectional comparative study. Place and Duration of Study: Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi in collaboration with Armed Forces Institute of Ophthalmology (AFIO) and Military Hospital Laboratories, Rawalpindi from Jan 2016 to Jun 2016. Material and Methods: A total of 90 diagnosed patients of diabetic retinopathy of ages 40-70 years were enrolled from Armed Forces Institute of Ophthalmology, Rawalpindi. Their inflammatory markers (ESR and CRP) were assessed and their levels were compared with their physical activity, family history and other complications of diabetes already developed in them. These were then compared with those of 90 normal healthy controls enrolled from general population using independent student's t test and one way Anova test for scale variables and Chi square test for nominal variables. Results: Both patients and controls were age and gender matched with mean age of 60 +- 8.9 years in patients and 59 +- 13.02 years in controls. Among 90 patients enrolled 51(56.7 percent) were males and 39 (43.3) were females. And among 90 controls 49 (54.4 percent) were males and 41(45.6 percent) were females. An inverse association was observed between inflammatory markers and physical activity with ap-value of 0.001. On the contrary a strong positive association was observed between inflammatory markers and family history and complications of diabetes with a p-value 0.001. Conclusion: There is an inverse association of inflammatory markers with physical activity and a direct association of these with family history and complications of diabetes among patients of diabetic retinopathy. (author)

  18. The Effects of Tryptophan on Everyday Interpersonal Encounters and Social Cognitions in Individuals with a Family History of Depression.

    Science.gov (United States)

    Hogenelst, Koen; Schoevers, Robert A; Aan Het Rot, Marije

    2015-03-02

    Individuals with a family history of depression show subtle abnormalities in the processing of social stimuli. This could negatively affect their interpersonal functioning and contribute to their depression risk. Repeated administration of the serotonin precursor tryptophan has previously been shown to increase agreeable behavior and reduce quarrelsome behavior in irritable people, who are also considered at risk for depression. To examine the effects of tryptophan on social functioning in individuals with a family history of depression, 40 men and women with at least one first-degree relative with depression received tryptophan (1g three times a day) and placebo for 14 days each in a double-blind crossover design and recorded their social behavior and mood during everyday interpersonal encounters. Participants also provided daily ratings of their positive and negative cognitions concerning their social functioning. Tryptophan improved mood. Unexpectedly, tryptophan increased quarrelsome behavior and reduced agreeable behavior, specifically during interactions at home. The behavioral effects of tryptophan were not moderated by mood or by the interaction partner. Negative social cognitions were lower when tryptophan was given second and lower during placebo when placebo was given second. Overall, tryptophan may not alter social behavior in individuals with a family history of depression as it does in irritable people. However, the behavioral effects of tryptophan at home might be seen as a way for individuals with a family history of depression to achieve more control. Over time, this may positively influence the way they feel and think about themselves in a social context. © The Author 2015. Published by Oxford University Press on behalf of CINP.

  19. Family history study of the familial coaggregation of borderline personality disorder with axis I and nonborderline dramatic cluster axis II disorders.

    Science.gov (United States)

    Zanarini, Mary C; Barison, Leah K; Frankenburg, Frances R; Reich, D Bradford; Hudson, James I

    2009-08-01

    The purpose of this study was to assess the familial coaggregation of borderline personality disorder (BPD) with a full array of axis I disorders and four axis II disorders (antisocial personality disorder, histrionic personality disorder, narcissistic personality disorder, and sadistic personality disorder) in the first-degree relatives of borderline probands and axis II comparison subjects. Four hundred and forty-five inpatients were interviewed about familial psychopathology using the Revised Family History Questionnaire-a semistructured interview of demonstrated reliability. Of these 445 subjects, 341 met both DIB-R and DSM-III-R criteria for BPD and 104 met DSM-III-R criteria for another type of personality disorder (and neither criteria set for BPD). The psychopathology of 1,580 first-degree relatives of borderline probands and 472 relatives of axis II comparison subjects was assessed. Using structural models for familial coaggregation, it was found that BPD coaggregates with major depression, dysthymic disorder, bipolar I disorder, alcohol abuse/dependence, drug abuse/dependence, panic disorder, social phobia, obsessive-compulsive disorder, generalized anxiety disorder, posttraumatic stress disorder, somatoform pain disorder, and all four axis II disorders studied. Taken together, the results of this study suggest that common familial factors, particularly in the areas of affective disturbance and impulsivity, contribute to borderline personality disorder.

  20. Involvement of genetic variants associated with primary open-angle glaucoma in pathogenic mechanisms and family history of glaucoma.

    Science.gov (United States)

    Mabuchi, Fumihiko; Sakurada, Yoichi; Kashiwagi, Kenji; Yamagata, Zentaro; Iijima, Hiroyuki; Tsukahara, Shigeo

    2015-03-01

    To investigate the associations between the non-intraocular pressure (IOP)-related genetic variants (genetic variants associated with vulnerability of the optic nerve independent of IOP) and primary open-angle glaucoma (POAG), including normal-tension glaucoma (NTG) and high-tension glaucoma (HTG), and between the non-IOP-related genetic variants and a family history of glaucoma. Case-control study. Japanese patients with NTG (n = 213) and HTG (n = 212) and 191 control subjects were genotyped for 5 non-IOP-related genetic variants predisposing to POAG near the SRBD1, ELOVL5, CDKN2B/CDKN2B-AS1, SIX1/SIX6, and ATOH7 genes. The load of these genetic variants was compared between the control subjects and patients with NTG or HTG and between the POAG patients with and without a family history of glaucoma. The total number of POAG risk alleles and the product of the odds ratios (POAG risk) of these genetic variants were significantly larger (P product of the odds ratios increased (P = .012 and P = .047, respectively). Non-IOP-related genetic variants contribute to the pathogenesis of HTG as well as NTG. A positive family history of glaucoma in cases of POAG is thought to reflect the influence of genetic variants predisposing to POAG. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. The association of age, gender, ethnicity, family history, obesity and hypertension with type 2 diabetes mellitus in Trinidad.

    Science.gov (United States)

    Nayak, B Shivananda; Sobrian, Arianne; Latiff, Khalif; Pope, Danielle; Rampersad, Akash; Lourenço, Kodi; Samuel, Nichole

    2014-01-01

    To assess the impact of risk factors such as age, gender, ethnicity, family history, body mass index (BMI), waist circumference and hypertension, on the development of type 2 diabetes mellitus in the Trinidadian population. A cross-sectional case control study comprised 146 non-diabetics and 147 type 2 diabetics ≥18 years of age, from North Central, South West and Eastern regions of Trinidad. Cross-tabulations revealed a significant difference between type 2-diabetes and age at pdiabetes and family history, ethnicity, waist circumference and hypertension at pdiabetics and type 2 diabetics being, 130.62 (±2.124) and 141.35 (±2.312), respectively. No significant difference was observed between type 2 diabetes and gender and BMI. Age was the most significant risk factor of type 2 diabetes. Therefore it can be concluded that family history, ethnicity, waist circumference and hypertension are more significant risk factors of this disease than BMI and gender in the Trinidadian population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  2. Missed opportunities in primary care: the importance of identifying depression through screening, family history, and chronic disease management.

    Science.gov (United States)

    Maradiegue, Ann H; Khan, Fakiha

    2013-02-01

    This study explored the adequacy of depression screening in a community health center. The medical charts of individuals (N = 90) enrolled at a community health center were randomly selected, reviewed, and compared to current standard-of-care guidelines for four elements: family history, screening for depression, control of chronic illnesses, and missed opportunities for preventive care. Family history documentation collected by the providers was limited and 44.4% had no family history. There was no routine depression screening process, although 48.9% of the clients had red flags (warning signals) for depression. Laboratory values used for screening control of chronic disease in the medical records were: fasting glucose levels ⩽100 mg/dL (46%), total cholesterol levels ⩽200 mg/dL (38%), and blood pressure ⩽120/80 mmHg (23%). The results highlight the need to focus on depression screening as part of preventive care and the management of chronic disease in the primary care setting. Copyright 2013, SLACK Incorporated.

  3. The Importance of Family History in Breast Cancer Patients in Primary Care Setting: a Cross-sectional Study.

    Science.gov (United States)

    Kartal, Mehtap; Ozcakar, Nilgun; Hatipoglu, Sehnaz; Tan, Makbule Neslisah; Guldal, Azize Dilek

    2018-06-01

    Screening recommendations of physicians are important for women to raise awareness about their risk factors and to promote appropriate screening behaviors. However, it seems challenging for primary care physicians (PCPs) to balance disease prevention and diagnosis, treatment. The objective of this study was to describe physicians' breast cancer consultancy practice including family history, cancer prevention issues for the women they care. This cross-sectional study included 577 women aged above 45 years, free of breast cancer, during their visits to their PCPs. Nearly half of the women reported their visit to PCPs for an annual examination during the year. Among them, 36.1% had first-degree relatives with cancer and 7.3% with breast cancer. But they reported to be asked about family history of cancer and informed about cancer prevention issues 35.1 and 26.4%, respectively. Cancer still seems to be a hard issue to be discussed, even with women visiting PCPs for annual examination. Asking first-degree relative with breast cancer can give PCPs the chance of determining women with increased risk and support women's appropriate understanding of their own risk in relation to their family history. This routine can make shared-decision making for developing person-centered approach for breast cancer screening possible. Further studies are needed for better understanding of loss of consultancy leadership of physicians for breast cancer.

  4. Naïve observers' perceptions of family drawings by 7-year-olds with disorganized attachment histories.

    Science.gov (United States)

    Madigan, Sheri; Goldberg, Susan; Moran, Greg; Pederson, David R

    2004-09-01

    Previous research has succeeded in distinguishing among drawings made by children with histories of organized attachment relationships (secure, avoidant, and resistant); however, drawings of children with histories of disorganized attachment have yet to be systematically investigated. The purpose of this study was to determine whether naïve observers would respond differentially to family drawings of 7-year-olds who were classified in infancy as disorganized vs. organized. Seventy-three undergraduate students from one university and 78 from a second viewed 50 family drawings of 7-year-olds (25 by children with organized infant attachment and 25 by children with disorganized infant attachment). Participants were asked to (1) circle the emotion that best described their reaction to the drawings and (2) rate the drawings on 6 bipolar scales. Drawings from children classified as disorganized in infancy evoked positive emotion labels less often and negative emotion labels more often than those children classified as organized. Furthermore, drawings from children classified as disorganized in infancy received higher ratings on scales for disorganization, carelessness, family chaos, bizarreness, uneasiness, and dysfunction. These data indicate that naive observers are relatively successful in distinguishing selected features of drawings by children with histories of disorganized vs. organized attachment.

  5. 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

  6. Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia.

    Science.gov (United States)

    Boyd, Heather A; Tahir, Hassaan; Wohlfahrt, Jan; Melbye, Mads

    2013-12-01

    Preeclampsia encompasses multiple conditions of varying severity. We examined the recurrence and familial aggregation of preeclampsia by timing of onset, which is a marker for severity. We ascertained personal and family histories of preeclampsia for women who delivered live singletons in Denmark in 1978-2008 (almost 1.4 million pregnancies). Using log-linear binomial regression, we estimated risk ratios for the associations between personal and family histories of preeclampsia and the risk of early-onset (before 34 weeks of gestation, which is typically the most severe), intermediate-onset (at 34-36 weeks of gestation), and late-onset (after 36 weeks of gestation) preeclampsia. Previous early-, intermediate-, or late-onset preeclampsia increased the risk of recurrent preeclampsia with the same timing of onset 25.2 times (95% confidence interval (CI): 21.8, 29.1), 19.7 times (95% CI: 17.0, 22.8), and 10.3 times (95% CI: 9.85, 10.9), respectively, compared with having no such history. Preeclampsia in a woman's family was associated with a 24%-163% increase in preeclampsia risk, with the strongest associations for early- and intermediate-onset preeclampsia in female relatives. Preeclampsia in the man's family did not affect a woman's risk of early-onset preeclampsia and was only weakly associated with her risks of intermediate- and late-onset preeclampsia. Early-onset preeclampsia appears to have the largest genetic component, whereas environmental factors likely contribute most to late-onset preeclampsia. The role of paternal genes in the etiology of preeclampsia appears to be limited.

  7. Feelings of Women With Strong Family Histories Who Subsequent to Their Breast Cancer Diagnosis Tested BRCA Positive.

    Science.gov (United States)

    Joseph, Meera; Rab, Faiza; Panabaker, Karen; Nisker, Jeff

    2015-05-01

    Family physicians in Canada as reported in several studies do not recognize the importance of family history in relation to breast/ovarian cancer and thus Canadian women with strong family histories continue to develop early-onset breast cancer without the knowledge of or ability to make choices regarding increased surveillance or preventative strategies. This study explored the feelings of women who learned about their hereditary risk only after their diagnosis younger than 52 years and who eventually tested positive for a BRCA gene mutation. Thirty-four such women were mailed an invitation to participate in this research including a letter of information, consent form, and discussion prompts for their written narrative response. Rigorous mixed method analyses were performed using Charmaz-based qualitative analyses as well as quantitative analyses. Thirteen women (38.2%) responded with narratives for qualitative analysis from which 4 themes were coconstructed as follows: I, types of emotions; II, emotional response; III, coping with emotions; and IV, advice to women at similar risk. Women felt they should have learned about their hereditary risk from their family physician and through public education before their diagnosis. Although not experienced at the time of diagnosis, anger, frustration, and regret were experienced after receiving their BRCA results. These emotions arose from our research participants' lack of opportunity for prior genetic counseling and testing opportunity for genetic counseling and testing. With increased public and physician education, it is hoped that women with significant family histories of breast/ovarian cancer will be identified before diagnosis and given options regarding cancer surveillance and risk reduction strategies.

  8. Family history of psychiatric illness as a risk factor for schizoaffective disorder: a Danish register-based cohort study

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Labouriau, Rodrigo; Licht, Rasmus Wentzer

    2005-01-01

    , or schizophrenia among parents and siblings is a risk factor for developing a schizoaffective disorder, and whether a specific pattern of family history of psychiatric illness exists in persons with schizoaffective disorder compared with persons with bipolar disorder or schizophrenia. DESIGN: Register-based cohort...... study. SETTING: Denmark. COHORT: The 2.4 million persons born in Denmark after 1952. MAIN OUTCOME MEASURES: Relative risks of the 3 illnesses estimated by Poisson regression. RESULTS: In total, 1925 persons had a schizoaffective disorder, 3721 had a bipolar disorder, and 12 501 had schizophrenia....... The relative risk of schizoaffective disorder was 2.76 (95% confidence interval, 2.49-3.06) if a first-degree relative had a history of mental illness compared with a person with no first-degree relatives with such a history. There was an additional risk (95% confidence interval) of 2.57 (2.11-3.13), 3.23 (2...

  9. Undifferentiated seronegative spondyloarthritis with inflammatory bowel disease and a family history of psoriasis. Sicca syndrome

    Directory of Open Access Journals (Sweden)

    Norma Marigliano

    2013-04-01

    Full Text Available Background: Seronegative spondyloarthritis is characterized by the presence of subcutaneous nodules, asymmetrical peripheral arthritis, sacroileitis with or without spondylitis, and rheumatoid-factor negativity. Other common clinical manifestations include oral ulcers, conjunctivitis, and cutaneous lesions such as psoriasis. Familial aggregation has also been described. According to the 1986 classification, corresponding clinical entities include ankylosing spondylitis, psoriatic arthritis, Reiter’s syndrome, arthritis associated with inflammatory bowel disease (IBD, and undifferentiated spondyloarthritis. The disease is also frequently associated with the HLA B27 antigen. From the clinical point of view, there are often incomplete forms of spondyloarthritis, such as reactive arthritis triggered by asymptomatic infections, psoriatic arthritis without psoriasis itself, initial phases of specific forms of spondyloarthritis or the phase of ankylosing spondylitis characterized by sacroiliac lesions, and all forms that remain undifferentiated for long periods of time. Moreover, there are close relations between arthropathy and IBDs, such as Crohn’s disease, ulcerative colitis, and Whipple’s syndrome. Recently, microscopic inflammatory bowel lesions and psoriatic arthritis have been described. Case report: A 30-year-old man (HLA B27-negative who had been vaccinated against TBC and HBV presented with a 6-year history of recurrent episodes of predominantly left-sided sciatica. The pain was worse at night and during rest. He was suffering from bilateral sacroileitis without spondylitis. Three to five times a day, usually after eating, he passed watery feces containing mucous and small amounts of bright red blood. Colonoscopy revealed pancolitis with histological evidence of chronic inflammation interspersed with areas of acute inflammation, edema, hyperemia, and glandular distortion. One year later, the clinical manifestations and histological

  10. The relationship of family history and risk of type 2 diabetes differs by ancestry.

    Science.gov (United States)

    Kral, B G; Becker, D M; Yanek, L R; Vaidya, D; Mathias, R A; Becker, L C; Kalyani, R R

    2018-05-21

    Type 2 diabetes (T2DM) in a first-degree relative is a risk factor for incident diabetes. Americans of African ancestry (AA) have higher rates of T2DM than Americans of European ancestry (EA). Thus, we aimed to determine whether the presence, number and kinship of affected relatives are associated with race-specific T2DM incidence in a prospective study of participants from the Genetic Study of Atherosclerosis Risk (GeneSTAR), who underwent baseline screening including a detailed family history. Nondiabetic healthy siblings (n=1405) of patients with early-onset coronary artery disease (18-59 years) were enrolled (861 EA and 544 AA) and followed for incident T2DM (mean 14±6 years). Baseline age was 46.2±7.3 years and 56% were female. T2DM occurred in 12.3% of EA and 19.1% of AA. Among EA, 32.6% had ≥1 affected first-degree relatives versus 53.1% in AA, Phistory was related to incident T2DM in EA (HR=2.53, 95% CI: 1.58-4.06) but not in AA (HR=1.01, 0.67-1.53). The number of affected relatives conferred incremental risk of T2DM in EA with HR=1.82 (1.08-3.06), 4.83 (2.15-10.85) and 8.46 (3.09-23.91) for 1, 2, and ≥3 affected, respectively. In AA only ≥3 affected increased risk (HR=2.45, 1.44-4.19). Specific kinship patterns were associated with incident T2DM in EA but not in AA. The presence of any first-degree relative with T2DM does not discriminate risk in AA given the high race-specific prevalence of diabetes. Accounting for the number of affected relatives may more appropriately estimate risk for incident diabetes in both races. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  11. Autonomic and Vascular Control in Prehypertensive Subjects with a Family History of Arterial Hypertension

    Directory of Open Access Journals (Sweden)

    Josária Ferraz Amaral

    2018-02-01

    Full Text Available Abstract Background: Individuals with a family history of systemic arterial hypertension (FHSAH and / or prehypertension have a higher risk of developing this pathology. Objective: To evaluate the autonomic and vascular functions of prehypertensive patients with FHSAH. Methods: Twenty-five young volunteers with FHSAH, 14 normotensive and 11 prehypertensive subjects were submitted to vascular function evaluation by forearm vascular conductance(VC during resting and reactive hyperemia (Hokanson® and cardiac and peripheral autonomic modulation, quantified, respectively, by spectral analysis of heart rate (ECG and systolic blood pressure (SBP (FinometerPRO®. The transfer function analysis was used to measure the gain and response time of baroreflex. The statistical significance adopted was p ≤ 0.05. Results: Pre-hypertensive individuals, in relation to normotensive individuals, have higher VC both at rest (3.48 ± 1.26 vs. 2.67 ± 0.72 units, p = 0.05 and peak reactive hyperemia (25, 02 ± 8.18 vs. 18.66 ± 6.07 units, p = 0.04. The indices of cardiac autonomic modulation were similar between the groups. However, in the peripheral autonomic modulation, greater variability was observed in prehypertensive patients compared to normotensive individuals (9.4 [4.9-12.7] vs. 18.3 [14.8-26.7] mmHg2; p < 0.01 and higher spectral components of very low (6.9 [2.0-11.1] vs. 13.5 [10.7-22.4] mmHg2, p = 0.01 and low frequencies (1.7 [1.0-3.0] vs. 3.0 [2.0-4.0] mmHg2, p = 0.04 of SBP. Additionally, we observed a lower gain of baroreflex control in prehypertensive patients compared to normotensive patients (12.16 ± 4.18 vs. 18.23 ± 7.11 ms/mmHg, p = 0.03, but similar delay time (-1.55 ± 0.66 vs. -1.58 ± 0.72 s, p = 0.90. Conclusion: Prehypertensive patients with FHSAH have autonomic dysfunction and increased vascular conductance when compared to normotensive patients with the same risk factor.

  12. Multivariate assessment of subjective and objective measures of social and family satisfaction in Veterans with history of traumatic brain injury.

    Science.gov (United States)

    Orff, Henry J; Hays, Chelsea C; Twamley, Elizabeth W

    2016-01-01

    Approximately 20% of current-era Veterans have sustained a traumatic brain injury (TBI), which can result in persistent postconcussive symptoms. These symptoms may disrupt family and social functioning. We explored psychiatric, postconcussive, and cognitive factors as correlates of objective functioning and subjective satisfaction in family and social relationships. At entry into a supported employment study, 50 unemployed Veterans with a history of mild to moderate TBI and current cognitive impairment were administered baseline assessments. Multivariate stepwise regressions determined that higher levels of depressive symptomatology were strongly associated with less frequent social contact, as well as lower subjective satisfaction with family and social relationships. Worse verbal fluency predicted less frequent social contact, whereas worse processing speed and switching predicted higher levels of subjective satisfaction with family relationships. The pattern of results remained similar when examining those Veterans with only mild TBI. Depressive symptoms and cognitive functioning may impact Veterans' social contact and satisfaction with family and social relationships. Evidence-based interventions addressing depression and cognition may therefore aid in improving community reintegration and satisfaction with social and family relationships.

  13. A Severe Case of Pigmentary Glaucoma in a Child With a Family History of Pigment Dispersion Syndrome.

    Science.gov (United States)

    Aragno, Vittoria; Zeboulon, Pierre; Baudouin, Christophe; Labbé, Antoine

    2016-08-01

    To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.

  14. Does history of childhood maltreatment make a difference in prison? A hierarchical approach on early family events and personality traits.

    Science.gov (United States)

    Sergentanis, Theodoros N; Sakelliadis, Emmanouil I; Vlachodimitropoulos, Dimitrios; Goutas, Nikolaos; Sergentanis, Ioannis N; Spiliopoulou, Chara A; Papadodima, StavroulaA

    2014-12-30

    This study attempts to assess childhood maltreatment in prison through a hierarchical approach. The hierarchical approach principally aims to disentangle the independent effects of childhood maltreatment upon psychiatric morbidity/personality traits, if any, from the burden that the adverse family conditions have already imposed to the mental health of the maltreated individual-prisoner. To this direction, a conceptual framework with five hierarchical levels was constructed, namely: immutable demographic factors; family conditions; childhood maltreatment (physical abuse, neglect and sexual abuse); personality traits, habits and psychiatric morbidity; prison-related variables. A self-administered, anonymous set (battery) of questionnaires was administered to 173 male prisoners in the Chalkida prison, Greece; 26% of prisoners disclosed childhood maltreatment. Psychiatric condition in the family, parental alcoholism and parental divorce correlated with childhood maltreatment. After adjustment for immutable demographic factors and family conditions, childhood maltreatment was associated with aggression (both in terms of Lifetime History of Aggression and Buss–Perry Aggression Questionnaire scores), illicit substance use, personal history of psychiatric condition, current smoking, impulsivity and alcohol abuse. In conclusion, childhood maltreatment represents a pivotal, determining factor in the life course of male prisoners. Delinquents seem to suffer from long-term consequences of childhood maltreatment in terms of numerous mental health aspects.

  15. Analysis of micronuclei of the oral epithelium in workers of a banana zone exposed to pesticides

    International Nuclear Information System (INIS)

    Castro Achi, R.

    1999-01-01

    The following study was realized with workers of the zone of Guapiles (Limon, Costa Rica), to determine the possible damage to the genetic material occasioned by labour exhibition to pesticides. The presence of micronuclei in cells of the oral epithelium was used as a biomarcador of effect . Besides, an analysis of frequency of other abnormalities was made in the nucleus of the epithelial cells, which can be an indication of genotoxicity or cytotoxicity. The group of women exposed to pesticides (cases) was formed by workers of packing plants of different independent banana states. The group of women who constituted the group of control were persons that neither them nor their spouses or companions had never worked at agricultural labours and that had not lived inside a banana estate. The samples of the controls were gathered not only from women who are employed at the Hospital of Guapiles, but also from patients who were expecting to be attended in the external consultation of the same hospital, or, in the Healthy Child consultation in the health center of the same city. It is the first time that a study of control-case is done in the country to detect genotoxicidad, using micronuclei of the oral epithelium (MNOE) as a biomarcador. The participants were interviewed to obtain information about his or her customs and family history that could be relevant for the study. The preparation and the analysis of the cells of the oral epithelium of every individual was done in the laboratories of the Instituto de Investigaciones en Salud (INISA), of the Universidad de Costa Rica. Although there are indications of cytotoxic and genotoxicity in the controls showed by an increase of the frequencies of other nuclear abnormalities, the results demonstrated that there is not a significant increase in MNOE's frequency between the group of cases and of controls. (Author) [es

  16. "What about FH of my child?" parents' opinion on family history collection in preventive primary pediatric care.

    Science.gov (United States)

    Syurina, Elena V; Gerritsen, Anne-Marie Jm; Hens, Kristien; Feron, Frans Jm

    2015-08-01

    Family history (FH) in Preventive Primary Pediatric Care is to identify children at risk for complex diseases and provide personal preventive strategies. This study was to assess parents' opinion on FH collection. Semi-structured interviews were conducted. Among issues addressed were: former experiences with FH, knowledge about FH, family definition and sharing information about FH. The importance of FH for participants depended on their knowledge, perceived family health status and former experiences. After insight into FH, parents shift to believing it to be important, but certain barriers exist in reporting FH. Parents suggest that the importance of FH should be more emphasized and more trusting relationship with Preventive Primary Pediatric Care should be invested in.

  17. Planning Ahead or Living a Day at a Time? A Family History of AD and Retirement Planning.

    Science.gov (United States)

    Zick, Cathleen D; Smith, Ken R; Mayer, Robert N

    2016-09-01

    We assess whether a family history of Alzheimer's disease (AD) is associated with the odds that healthy family members' engage in retirement planning activities. This is a cross-sectional study utilizing individual-level data from the Utah Population Database that have been linked to Medicare records and to responses from a retirement planning survey. Engagement in 3 retirement planning activities was estimated as a function of the number of parents and grandparents diagnosed with AD along with a set of fundamental socioeconomic and demographic covariates. Adults who had a parent with AD were 86% more likely to have seen a professional financial advisor and 40% less likely to plan to retire before age 65. Caregiving costs and/or knowledge of the familial risk of developing AD may provide adult children with a forewarning of their own future financial needs that, in turn, motivates them to engage in retirement planning. © The Author(s) 2016.

  18. Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

    Science.gov (United States)

    Daack-Hirsch, Sandra; Shah, Lisa L; Cady, Alyssa D

    2018-03-01

    Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

  19. Family history of mood disorder and characteristics of major depressive disorder: a STAR*D (sequenced treatment alternatives to relieve depression) study.

    Science.gov (United States)

    Nierenberg, Andrew A; Trivedi, Madhukar H; Fava, Maurizio; Biggs, Melanie M; Shores-Wilson, Kathy; Wisniewski, Stephen R; Balasubramani, G K; Rush, A John

    2007-01-01

    Clinicians routinely ask patients with major depressive disorder (MDD) about their family history. It is unknown, however, if patients who report a positive family history differ from those who do not. This study compared the demographic and clinical features of a large cohort of treatment-seeking outpatients with non-psychotic MDD who reported that they did or did not have at least one first-degree relative who had either MDD or bipolar disorder. Subjects were recruited for the STAR( *)D multicenter trial. Differences in demographic and clinical features for patients with and without a family history of mood disorders were assessed after correcting for age, sex, race, and ethnicity. Patients with a family history of mood disorder (n=2265; 56.5%) were more frequently women and had an earlier age of onset of depression, as compared to those without such a history (n=1740; 43.5%). No meaningful differences were found in depressive symptoms, severity, recurrence, depressive subtype, or daily function. Women were twice as likely as men to report a positive family history of mood disorder, and a positive family history was associated with younger age of onset of MDD in the proband. Consistent with prior research, early age of onset appears to define a familial and, by extension, genetic subtype of major depressive disorder.

  20. Family history of cancer and risk of Pancreatic Cancer: A Pooled Analysis from the Pancreatic Cancer Cohort Consortium (PanScan)

    Science.gov (United States)

    Jacobs, Eric J.; Chanock, Stephen J.; Fuchs, Charles S.; LaCroix, Andrea; McWilliams, Robert R.; Steplowski, Emily; Stolzenberg-Solomon, Rachael Z.; Arslan, Alan A.; Bueno-de-Mesquita, H. Bas; Gross, Myron; Helzlsouer, Kathy; Petersen, Gloria; Zheng, Wei; Agalliu, Ilir; Allen, Naomi E.; Amundadottir, Laufey; Boutron-Ruault, Marie-Christine; Buring, Julie E.; Canzian, Federico; Clipp, Sandra; Dorronsoro, Miren; Gaziano, J. Michael; Giovannucci, Edward L.; Hankinson, Susan E.; Hartge, Patricia; Hoover, Robert N.; Hunter, David J.; Jacobs, Kevin B.; Jenab, Mazda; Kraft, Peter; Kooperberg, Charles; Lynch, Shannon M.; Sund, Malin; Mendelsohn, Julie B.; Mouw, Tracy; Newton, Christina C.; Overvad, Kim; Palli, Domenico; Peeters, Petra H.M.; Rajkovic, Aleksandar; Shu, Xiao-Ou; Thomas, Gilles; Tobias, Geoffrey S.; Trichopoulos, Dimitrios; Virtamo, Jarmo; Wactawski-Wende, Jean; Wolpin, Brian M.; Yu, Kai; Zeleniuch-Jacquotte, Anne

    2010-01-01

    A family history of pancreatic cancer has consistently been associated with increased risk of pancreatic cancer. However, uncertainty remains about the strength of this association. Results from previous studies suggest a family history of select cancers (i.e. ovarian, breast, and colorectal) could also be associated, although not as strongly, with increased risk of pancreatic cancer. We examined the association between a family history of five types of cancer (pancreas, prostate, ovarian, breast, and colorectal) and risk of pancreatic cancer using data from a collaborative nested case-control study conducted by the Pancreatic Cancer Cohort Consortium. Cases and controls were from cohort studies from the United States, Europe, and China, and a case-control study from the Mayo Clinic. Analyses of family history of pancreatic cancer included 1,183 cases and 1,205 controls. A family history of pancreatic cancer in a parent, sibling, or child was associated with increased risk of pancreatic cancer (multivariate-adjusted OR = 1.76, 95% CI 1.19–2.61). A family history of prostate cancer was also associated with increased risk (OR = 1.45, 95% CI 1.12–1.89). There were no statistically significant associations with a family history of ovarian cancer (OR = 0.82, 95% CI 0.52–1.31), breast cancer (OR = 1.21, 95% CI 0.97–1.51), or colorectal cancer (OR = 1.17, 95% CI 0.93–1.47). Our results confirm a moderate sized association between a family history of pancreatic cancer and risk of pancreatic cancer and also provide evidence for an association with a family history of prostate cancer worth further study. PMID:20049842

  1. Increased mortality exposure within the family rather than individual mortality experiences triggers faster life-history strategies in historic human populations.

    Science.gov (United States)

    Störmer, Charlotte; Lummaa, Virpi

    2014-01-01

    Life History Theory predicts that extrinsic mortality risk is one of the most important factors shaping (human) life histories. Evidence from contemporary populations suggests that individuals confronted with high mortality environments show characteristic traits of fast life-history strategies: they marry and reproduce earlier, have shorter birth intervals and invest less in their offspring. However, little is known of the impact of mortality experiences on the speed of life histories in historical human populations with generally higher mortality risk, and on male life histories in particular. Furthermore, it remains unknown whether individual-level mortality experiences within the family have a greater effect on life-history decisions or family membership explains life-history variation. In a comparative approach using event history analyses, we study the impact of family versus individual-level effects of mortality exposure on two central life-history parameters, ages at first marriage and first birth, in three historical human populations (Germany, Finland, Canada). Mortality experience is measured as the confrontation with sibling deaths within the natal family up to an individual's age of 15. Results show that the speed of life histories is not adjusted according to individual-level mortality experiences but is due to family-level effects. The general finding of lower ages at marriage/reproduction after exposure to higher mortality in the family holds for both females and males. This study provides evidence for the importance of the family environment for reproductive timing while individual-level mortality experiences seem to play only a minor role in reproductive life history decisions in humans.

  2. Family socialization of adolescent's self-reported cigarette use: the role of parents' history of regular smoking and parenting style.

    Science.gov (United States)

    Foster, Sarah E; Jones, Deborah J; Olson, Ardis L; Forehand, Rex; Gaffney, Cecelia A; Zens, Michael S; Bau, J J

    2007-05-01

    To examine the main and interactive effects of parental history of regular cigarette smoking and parenting style on adolescent self-reported cigarette use. Predictors of adolescent self-reported cigarette use, including parents' history of regular cigarette smoking and two dimensions of parenting behavior, were analyzed in a sample of 934 predominately Caucasian (96.3%) parent-adolescent dyads. Families were drawn from the control group of a randomized control trial aimed at preventing adolescent substance use. In addition to the main effects of parents' history of regular smoking and parental warmth, logistic regression analysis revealed that the interaction of these two variables was associated with adolescent self-reported cigarette use. Parental warmth was associated with a decreased likelihood of the adolescent ever having smoked a cigarette; however, this was true only if neither parent had a history of regular cigarette smoking. Findings suggest that adolescent smoking prevention programs may be more efficacious if they address both parental history of regular smoking and parenting behavior.

  3. The Role of "Family Snapshots" in Teaching Art History within a Dialogic Pedagogy

    Science.gov (United States)

    Baxter, Kristin

    2012-01-01

    Studying images of families in works of art and in snapshots is compelling, and the author wondered if looking at both types of images side by side might help students understand both kinds of images more fully. Snapshots often prompt detailed and vivid stories among family members and friends. Therefore, she wondered if dialogue about snapshots…

  4. Characterization of family orientation in Special Education, a look from its history in Cuba

    Directory of Open Access Journals (Sweden)

    Odalys Téllez-Veranes

    2018-03-01

    Full Text Available The objective of this work was to argue the distinctive characteristics of the stages of the family orientation process for the citizenship education of school children with mental retardation. The concrete historical evolution of family orientation allowed a periodization that accounts for different levels of satisfaction in attending to the needs of parents. Of the importance traditionally granted to the family as a social institution in the integral development of their children, the usefulness of their adequate preparation derives. The methods used were the historical-logical and analytical-synthetic. From the analysis of the orientation process to the family of school children with mental retardation, three stages are described and it is concluded that it moves from a care approach that does not consider family orientation as part of teaching work to a psycho-rehabilitative and finally psychopedagogical approach where it has not yet been systematize this process.

  5. Why are women more likely than men to extend paid work? The impact of work-family life history.

    Science.gov (United States)

    Finch, Naomi

    2014-03-01

    Extending working life beyond the state pension age is a key European Union policy. In the UK, women are more likely to extend paid work than men, indicating that factors other than the state pension age play a role in working longer. Women are less able to build pension income due to their role as carer within the family. It, therefore, follows that gender inequalities over the life course continue into older age to influence need, capacity and desire to undertake paid work after state pension age. This paper explores how work, marital and fertility history impact upon the likelihood of extending employment. It uses the British Household Panel Survey's retrospective data from the first 14 waves to summarise work-family histories, and logistic regression to understand the impact of work and family histories on extending paid work. Findings show that, on the one hand, women are extending paid work for financial reasons to make up for 'opportunity costs' as a result of their caring role within the family, with short breaks due to caring, lengthy marriages, divorcing and remaining single with children all being important. Yet, there is also evidence of 'status maintenance' from working life, with the women most likely to extend paid work, also those with the highest work orientation, prior to state pension age. But lengthy dis-attachment (due to caring) from the labour market makes extending working life more difficult. This has implications for policy strategies to entice women into paid work to make up for low independent financial resources.

  6. Familial risk for lifestyle-related chronic diseases: can family health history be used as a motivational tool to promote health behaviour in young adults?

    Science.gov (United States)

    Prichard, I; Lee, A; Hutchinson, A D; Wilson, C

    2015-08-01

    Risk for colorectal cancer, breast cancer, heart disease and diabetes has both a familial and a lifestyle component. This quasi-experimental study aimed to determine whether a Family Health History (FHH) assessment and the subsequent provision of risk information would increase young adults' (17-29 years) intentions to modify health behaviours associated with the risk of these chronic diseases (i.e. alcohol consumption, fruit and vegetable intake and physical activity) and to talk to their family about their risk. After baseline measures of current and intended health-related behaviours, participants (n = 116) were randomly allocated to either a FHH assessment or control information. Based on the FHH provided, participants in the FHH condition were then classified as 'above-average risk' or 'average risk'. One week later, participants were provided with tailored health information and completed follow-up measures of intended health-related behaviours and perceived vulnerability. Participants classified as 'above-average risk' had increased perceptions of vulnerability to a chronic disease. Despite this, no group differences were found in intentions to change physical activity or fruit and vegetable consumption. Participants with above-average risk reported greater intentions to decrease the frequency of their alcohol consumption than average risk/control participants. In addition, completing a FHH assessment promoted intended communication with family members about chronic disease risk. FHH assessments may have the greatest value within the family context. SO WHAT? Future research could examine the impact of providing FHH information to different family members as a health promotion strategy.

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

    Science.gov (United States)

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

    2015-02-01

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

  8. Identification of Kininogen 1 as a Serum Protein Marker of Colorectal Adenoma in Patients with a Family History of Colorectal Cancer

    Science.gov (United States)

    Yu, Jiekai; Huang, Yanqin; Lin, Chen; Li, Xiaofen; Fang, Xuefeng; Zhong, Chenhan; Yuan, Ying; Zheng, Shu

    2018-01-01

    The serum protein markers of colorectal adenoma in patients with a family history of colorectal cancer have been rarely reported. Serum samples from colorectal adenoma patients with or without a family history of colorectal cancer and healthy controls were profiled using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS). The model to distinguish colorectal adenoma patients with a family history of colorectal cancer from atypical hereditary colorectal families (CRA-H) and sporadic colorectal adenoma patients without a family history of colorectal cancer (CRA-S) was established with 85.0% accuracy. The model distinguishing CRA-H from healthy individuals was established with 90.0% specificity and 86.7% sensitivity. Additionally, five peaks (2202, 5821, 3260, 2480, and 2218) showing differential expression in advanced colorectal adenoma patients with a family history of colorectal cancer were selected. The protein Kininogen 1 (KNG1) was identified in colorectal adenoma patients and validated using Western Blotting. KNG1 may be a biomarker for colorectal adenoma patients with a family history of colorectal cancer. PMID:29535795

  9. Early traumatic life events, parental attitudes, family history, and birth risk factors in patients with depressive disorder and healthy controls.

    Science.gov (United States)

    Bandelow, Borwin; Gutermann, Julia; Peter, Helmut; Wedekind, Dirk

    2013-02-01

    Only few studies have compared the frequency of traumatic life events during childhood in inpatients with depression with a healthy control group. Consecutively admitted inpatients with depression (n = 79), most of whom belonged to the melancholic subtype (n = 73; 92.4%), and healthy controls (n = 110) were investigated using a comprehensive retrospective interview with 203 questions regarding childhood traumatic life events, parental attitudes, family history of psychiatric disorders and birth risk factors. Depressed patients had significantly more severe traumatic events (mean score 1.33; SD 1.4) than control subjects (0.85; SD 1.2) on a 0-10 point "severe trauma scale". 70.9% (n = 56) of the depressed patients, but only 48.2% (n = 53) of the controls reported at least one severe traumatic event. When looking at single events, only few differences were found between patients and controls. Compared to controls, patients described significantly higher rates of psychiatric disorders in their families, in particular depression. Parental rearing styles were rated as more unfavorable in the patient group. In a logistic regression model, of all possible etiological factors examined, only a family history of psychiatric disorders showed a significant influence (OR = 3.6). Melancholic depression seems to be less associated with traumatic events than other psychiatric disorders.

  10. Risk factors for alcoholism in the Oklahoma Family Health Patterns project: impact of early life adversity and family history on affect regulation and personality.

    Science.gov (United States)

    Sorocco, Kristen H; Carnes, Nathan C; Cohoon, Andrew J; Vincent, Andrea S; Lovallo, William R

    2015-05-01

    This study examined the impact of early lifetime adversity (ELA) on affect regulation and personality in persons with family history (FH+) and without (FH-) a family history of alcoholism. We examined the impact of early life adversity in healthy young adults, 18-30 years of age enrolled in a long-term study on risk for alcohol and other substance abuse. ELA was assessed by a composite score of low socioeconomic status and personal experience of physical or sexual abuse and/or separation from parents before age 16, resulting in a score of 0, 1-2, or >3 adverse events. Unstable affect regulation and personality variables were obtained via self-report measures. Higher ELA scores were seen in FH+ (χ(2)=109.2, paffect regulation, negative moods, and have risky drinking and drug abuse tendencies independent of ELA level. ELA predicts reduced stress reactivity and poorer cognitive control over impulsive behaviors as shown elsewhere. The present work shows that FH+ have poor mood regulation and antisocial characteristics. The greater prevalence of ELA in FH+ persons indicates that life experience and FH+ work in tandem to result in risky patterns of alcohol and drug experimentation to elevate risk for alcoholism. Further studies of genetic and environmental contributions to alcoholism are called for. Published by Elsevier Ireland Ltd.

  11. Using paleogenomics to study the evolution of gene families: origin and duplication history of the relaxin family hormones and their receptors.

    Directory of Open Access Journals (Sweden)

    Sergey Yegorov

    Full Text Available Recent progress in the analysis of whole genome sequencing data has resulted in the emergence of paleogenomics, a field devoted to the reconstruction of ancestral genomes. Ancestral karyotype reconstructions have been used primarily to illustrate the dynamic nature of genome evolution. In this paper, we demonstrate how they can also be used to study individual gene families by examining the evolutionary history of relaxin hormones (RLN/INSL and relaxin family peptide receptors (RXFP. Relaxin family hormones are members of the insulin superfamily, and are implicated in the regulation of a variety of primarily reproductive and neuroendocrine processes. Their receptors are G-protein coupled receptors (GPCR's and include members of two distinct evolutionary groups, an unusual characteristic. Although several studies have tried to elucidate the origins of the relaxin peptide family, the evolutionary origin of their receptors and the mechanisms driving the diversification of the RLN/INSL-RXFP signaling systems in non-placental vertebrates has remained elusive. Here we show that the numerous vertebrate RLN/INSL and RXFP genes are products of an ancestral receptor-ligand system that originally consisted of three genes, two of which apparently trace their origins to invertebrates. Subsequently, diversification of the system was driven primarily by whole genome duplications (WGD, 2R and 3R followed by almost complete retention of the ligand duplicates in most vertebrates but massive loss of receptor genes in tetrapods. Interestingly, the majority of 3R duplicates retained in teleosts are potentially involved in neuroendocrine regulation. Furthermore, we infer that the ancestral AncRxfp3/4 receptor may have been syntenically linked to the AncRln-like ligand in the pre-2R genome, and show that syntenic linkages among ligands and receptors have changed dynamically in different lineages. This study ultimately shows the broad utility, with some caveats, of

  12. Type 2 diabetes family histories, body composition and fasting glucose levels: a cross-section analysis in healthy sedentary male and female.

    Science.gov (United States)

    Bianco, Antonino; Pomara, Francesco; Thomas, Ewan; Paoli, Antonio; Battaglia, Giuseppe; Petrucci, Marco; Proia, Patrizia; Bellafiore, Marianna; Palma, Antonio

    2013-01-01

    Diabetes type 2 is a world wide spread disease with a multifactorial pathogenetic evolution. Various factors like obesity, physical inactivity and poor lifestyle habits contribute to its development. The aim of this study was to verify if in young healthy sedentary male and female there is positive correlation between family history to type 2 diabetes and an increase in body weight and fat mass, or alterations in basal glycemia values. Totally183 male and 237 female healthy sedentary subjects were analysed in 2012, in Italy. They were divided in three groups: FH(+) with first degree family history, FH(++) with second degree family history and FH(-) with no family history. Anthropometrics, body composition and blood parameters were assessed. Male had the highest BMI values (Plife-style changes, such as increased physical activity and controlled quantity and quality of food intake.

  13. Cortical thickness and VBM in young women at risk for familial depression and their depressed mothers with positive family history.

    Science.gov (United States)

    Ozalay, Ozgun; Aksoy, Burcu; Tunay, Sebnem; Simsek, Fatma; Chandhoki, Swati; Kitis, Omer; Eker, Cagdas; Gonul, Ali Saffet

    2016-06-30

    It has been demonstrated that compared to low-risk subjects, high-risk subjects for depression have structural and functional alterations in their brain scans even before the disease onset. However, it is not known if these alterations are related to vulnerability to depression or epiphenomena. One way to resolve this ambiguity is to detect the structural alterations in the high-risk subjects and determine if the same alterations are present in the probands. In this study, we recruited 24 women with the diagnosis of Major Depressive Disorder (MDD) with recurrent episodes and their healthy daughters (the high-risk for familial depression group; HRFD). We compared structural brain scans of the patients and HRFG group with those of 24 age-matched healthy mothers and their healthy daughters at similar ages to the HRFD group; respectively. Both cortical gray matter (GM) volume and thickness analyses revealed that HRFD daughters and their MDD mothers had similar GM differences in two regions: the right temporoparietal region and the dorsomedial prefrontal cortex. These results suggested that the observed alterations may be related to trait clinical and neurophysiological characteristics of MDD and may present before the onset of illness. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  14. Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women.

    Science.gov (United States)

    Kvaskoff, Marina; Han, Jiali; Qureshi, Abrar A; Missmer, Stacey A

    2014-02-01

    Endometriosis has been associated with a higher risk of cutaneous melanoma, but the mechanisms underlying this association are unknown.Some constitutional factors known to influence melanoma risk have been associated with endometriosis in some retrospective studies. However, prospective data are scarce, and more research is needed to confirm this potentially novel endometriosis risk profile. To investigate the relationships between pigmentary traits, family history of melanoma and endometriosis risk, we analysed data from the Nurses’ Health Study II, a cohort of 116 430 female US nurses aged 25–42 years at inclusion in 1989. Data were collected every 2 years with 20 years of follow-up for these analyses. We used Cox proportional hazards regression models to compute relative risks(RRs) and 95% confidence intervals (CIs). During 1 212 499 woman-years of follow-up, 4763 cases of laparoscopically-confirmed endometriosis were reported among premenopausal Caucasian women. Endometriosis risk was increased with presence of naevi on the lower legs (RR=1.08, 95% CI=1.021.14) and higher level of skin’s burning reaction to sun exposure in childhood/adolescence (‘burn with blisters’: RR=1.20,95% CI=1.061.36) compared with ‘practically none’;P(trend)=0.0006) and family history of melanoma (RR=1.13, 95%CI=1.011.26). This assessment reports modest associations between several pigmentary traits, family history of melanoma and endometriosis risk,corroborating the results from previous retrospective studies. Our findings call for further research to better understand the mechanisms under lying these associations.

  15. Subjective Cognitive Decline Is Associated With Altered Default Mode Network Connectivity in Individuals With a Family History of Alzheimer's Disease.

    Science.gov (United States)

    Verfaillie, Sander C J; Pichet Binette, Alexa; Vachon-Presseau, Etienne; Tabrizi, Shirin; Savard, Mélissa; Bellec, Pierre; Ossenkoppele, Rik; Scheltens, Philip; van der Flier, Wiesje M; Breitner, John C S; Villeneuve, Sylvia

    2018-05-01

    Both subjective cognitive decline (SCD) and a family history of Alzheimer's disease (AD) portend risk of brain abnormalities and progression to dementia. Posterior default mode network (pDMN) connectivity is altered early in the course of AD. It is unclear whether SCD predicts similar outcomes in cognitively normal individuals with a family history of AD. We studied 124 asymptomatic individuals with a family history of AD (age 64 ± 5 years). Participants were categorized as having SCD if they reported that their memory was becoming worse (SCD + ). We used extensive neuropsychological assessment to investigate five different cognitive domain performances at baseline (n = 124) and 1 year later (n = 59). We assessed interconnectivity among three a priori defined ROIs: pDMN, anterior ventral DMN, medial temporal memory system (MTMS), and the connectivity of each with the rest of brain. Sixty-eight (55%) participants reported SCD. Baseline cognitive performance was comparable between groups (all false discovery rate-adjusted p values > .05). At follow-up, immediate and delayed memory improved across groups, but the improvement in immediate memory was reduced in SCD + compared with SCD - (all false discovery rate-adjusted p values < .05). When compared with SCD - , SCD + subjects showed increased pDMN-MTMS connectivity (false discovery rate-adjusted p < .05). Higher connectivity between the MTMS and the rest of the brain was associated with better baseline immediate memory, attention, and global cognition, whereas higher MTMS and pDMN-MTMS connectivity were associated with lower immediate memory over time (all false discovery rate-adjusted p values < .05). SCD in cognitively normal individuals is associated with diminished immediate memory practice effects and a brain connectivity pattern that mirrors early AD-related connectivity failure. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  16. Multiple Sclerosis and Several Demographic Characteristics, Family History of MS, and Month of Birth: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Bagheri

    2015-09-01

    Full Text Available Background Several factors have been reported as risk factors for multiple sclerosis (MS; however, the main causes of the disease are still unknown. A geographical area with a low MS incidence is Ahvaz, Iran. Objectives The objective of this study was to evaluate the association of several demographic characteristics, family history, and birth month with MS in Ahvaz. Patients and Methods This was a case-control study including 155 MS cases and 155 controls matched for age, sex, and residential status. The participants were selected randomly, using a systematic method, from the MS patients referred to the MS Society of Khuzestan (Iran. The data collection tool was a standardized questionnaire designed by the authors to assess demographic characteristics. Data were analyzed using descriptive statistics including mean, frequency, and standard deviation and inferential statistical tests including χ2, Fisher’s exact test, and logistic regression using SPSS version 19. Results In both cases and controls, no significant associations were found between Arab ethnicity and incidence of MS, marital status and risk of MS in Ahvaz, or more than 15-year residency in Ahvaz, birth in Khuzestan, and month of birth and the risk of MS (P > 0.05. However, there was a marginally significant association between living from birth to age 15 years in Ahvaz and MS (P = 0.05. Furthermore, there was an association between a family history of MS and the risk of MS in Ahvaz (P = 0.02, which was significant in univariate logistic regression (P = 0.006. Conclusions The findings suggested that according to the ecological conditions of Ahvaz, a family history of MS may increase the risk of developing MS.

  17. Dexmedetomidine as the primary anesthetic agent during cardiac surgery in an infant with a family history of malignant hyperthermia

    Directory of Open Access Journals (Sweden)

    Aymen Naguib

    2011-01-01

    Full Text Available Malignant hyperthermia (MH is an acute hypermetabolic crisis triggered in susceptible patients by the administration of succinylcholine or a volatile anesthetic agent. When providing anesthetic care for MH-susceptible agents, a total intravenous anesthetic (TIVA technique is frequently chosen. When choosing the components for TIVA, several options exist including the combination of propofol or dexmedetomidine with an opioid. We present our experience with the use of dexmedetomidine as a key component of the anesthetic regimen in a 5-month-old infant with a family history of MH. Previous reports of the use of dexmedetomidine in MH-susceptible patients are reviewed and its benefits in such patients discussed.

  18. Health Heritage© a web-based tool for the collection and assessment of family health history: initial user experience and analytic validity.

    Science.gov (United States)

    Cohn, W F; Ropka, M E; Pelletier, S L; Barrett, J R; Kinzie, M B; Harrison, M B; Liu, Z; Miesfeldt, S; Tucker, A L; Worrall, B B; Gibson, J; Mullins, I M; Elward, K S; Franko, J; Guterbock, T M; Knaus, W A

    2010-01-01

    A detailed family health history is currently the most potentially useful tool for diagnosis and risk assessment in clinical genetics. We developed and evaluated the usability and analytic validity of a patient-driven web-based family health history collection and analysis tool. Health Heritage(©) guides users through the collection of their family health history by relative, generates a pedigree, completes risk assessment, stratification, and recommendations for 89 conditions. We compared the performance of Health Heritage to that of Usual Care using a nonrandomized cohort trial of 109 volunteers. We contrasted the completeness and sensitivity of family health history collection and risk assessments derived from Health Heritage and Usual Care to those obtained by genetic counselors and genetic assessment teams. Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care. Health Heritage also had greater sensitivity than Usual Care when comparing the identification of risks. These results suggest a strong role for automated family health history collection and risk assessment and underscore the potential of these data to serve as the foundation for comprehensive, cost-effective personalized genomic medicine. Copyright © 2010 S. Karger AG, Basel.

  19. Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

    Science.gov (United States)

    Serretti, Alessandro; Chiesa, Alberto; Calati, Raffaella; Linotte, Sylvie; Sentissi, Othman; Papageorgiou, Konstantinos; Kasper, Siegfried; Zohar, Joseph; De Ronchi, Diana; Mendlewicz, Julien; Amital, Daniela; Montgomery, Stuart; Souery, Daniel

    2013-03-01

    The extent to which a family history of mood disorders and suicide could impact on clinical features of patients suffering from major depression (MD) and bipolar disorder (BD) has received relatively little attention so far. The aim of the present work is, therefore, to assess the clinical implications of the presence of at least one first- and/or second-degree relative with a history of MD, BD and suicide in a large sample of patients with MD or BD. One thousand one hundred and fifty-seven subjects with MD and 686 subjects with BD were recruited within the context of two large projects. The impact of a family history of MD, BD, and suicide-considered both separately and together-on clinical and socio-demographic variables was investigated. A family history of MD, BD, and suicide was more common in BD patients than in MD patients. A positive family history of mood disorders and/or suicide as well as a positive family history of MD and BD separately considered, but not a positive history of suicide alone, were significantly associated with a comorbidity with several anxiety disorders and inversely associated with age of onset. The clinical implications as well as the limitations of our findings are discussed.

  20. Illnesses in siblings of US patients with bipolar disorder relate to multigenerational family history and patients severity of illness.

    Science.gov (United States)

    Post, Robert M; Altshuler, Lori L; Kupka, Ralph; McElroy, Susan L; Frye, Mark A; Rowe, Michael; Grunze, Heinz; Suppes, Trisha; Keck, Paul E; Nolen, Willem A

    2017-01-01

    Patients with bipolar disorder from the US have more early-onset illness and a greater familial loading for psychiatric problems than those from the Netherlands or Germany (abbreviated here as Europe). We hypothesized that these regional differences in illness burden would extend to the patients siblings. Outpatients with bipolar disorder gave consent for participation in a treatment outcome network and for filling out detailed questionnaires. This included a family history of unipolar depression, bipolar disorder, suicide attempt, alcohol abuse/dependence, drug abuse/dependence, and "other" illness elicited for the patients' grandparents, parents, spouses, offspring, and siblings. Problems in the siblings were examined as a function of parental and grandparental problems and the patients' adverse illness characteristics or poor prognosis factors (PPFs). Each problem in the siblings was significantly (pUS than in those from Europe. In the US, problems in the parents and grandparents were almost uniformly associated with the same problems in the siblings, and sibling problems were related to the number of PPFs observed in the patients. Family history was based on patient report. Increased familial loading for psychiatric problems extends through 4 generations of patients with bipolar disorder from the US compared to Europe, and appears to "breed true" into the siblings of the patients. In addition to early onset, a variety of PPFs are associated with the burden of psychiatric problems in the patients' siblings and offspring. Greater attention to the multigenerational prevalence of illness in patients from the US is indicated. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. "My Grandfather Slammed the Door in Winston Churchill's Face!" Using Family History to Provoke Rigorous Enquiry

    Science.gov (United States)

    Barrett, Paul

    2011-01-01

    The idea of using "little stories" to illuminate the "big pictures" of the past was creatively explored in "Teaching History 107," which offered teachers a wealth of detailed vignettes with which to kindle young people's interest and illuminate major historical events. Paul Barrett builds on the ideas explored in that…

  2. Wounded Healers: Graduate Students with Histories of Trauma in a Family Violence Course

    Science.gov (United States)

    Zosky, Diane L.

    2013-01-01

    Social work students are witness to a variety of challenges from course content through scenarios, videos, role-plays, and field practice. Students may be vulnerable to experiencing vicarious traumatization from this exposure. Some students, however, may have personal histories of trauma and may therefore experience posttraumatic stress reactions…

  3. Our History of Educational Freedom: What It Should Mean for Families Today. Policy Analysis.

    Science.gov (United States)

    Gryphon, Marie; Meyer, Emily A.

    This paper examines the American tradition of educational freedom, following its ebb and flow at various points in history. America's ethos of educational freedom has always been strong, tied to its values of pluralism, tolerance, and free inquiry. However, its legacy of freedom has suffered repeated assaults by individuals and groups who wish to…

  4. Evolutionary history of the porpoise family (Phocoenidae) : A perspective from mitogenomes

    NARCIS (Netherlands)

    Ben Chehida, Yacine; Aguilar, A. A.; Borrell, A.; Ferreira, M.; Taylor, B.L.; Rojas-Bracho, L.; Robertson, K.; Thumloup, Julie; Schumacher, C.; Vikingsson, G.A.; Morin, Phillip A.; Fontaine, Michael Christophe

    2017-01-01

    The six species of porpoises inhabit the cold waters of the globe, displaying a textbook example of anti-tropical distribution in marine mammals. Nevertheless, the evolutionary history of the porpoises still remained poorly understood, but this knowledge is crucial to illuminate the conservation

  5. A family history of alcoholism relates to alexithymia in substance use disorder patients

    NARCIS (Netherlands)

    de Haan, Hein A.; Joosten, Evelien A.G.; de Haan, Lydia; Schellekens, Arnt F.A.; Buitelaar, Jan K.; van der Palen, Jacobus Adrianus Maria; de Jong, Cor A.J.

    2013-01-01

    Objectives Previous research identified alexithymia as a potential risk factor for substance use disorders (SUD). More insight into the relation between alexithymia and SUD is needed in order to treat SUD effectively. Therefore, we investigated whether a familial vulnerability to alcoholism relates

  6. Modelling the contribution of family history and variation in single nucleotide polymorphisms to risk of schizophrenia

    DEFF Research Database (Denmark)

    Agerbo, Esben; Mortensen, Preben Bo; Wiuf, Carsten

    2012-01-01

    Epidemiological studies indicate that having any family member with schizophrenia increases the risk of schizophrenia in the probands. However, genome-wide association studies (GWAS) have accounted for little of this variation. The aim of this study was to use a population-based sample to explore...

  7. Child and Parental Literacy Levels within Families with a History of Dyslexia

    Science.gov (United States)

    van Bergen, Elsje; de Jong, Peter F.; Plakas, Anna; Maassen, Ben; van der Leij, Aryan

    2012-01-01

    Background: The present study concerns literacy and its underlying cognitive skills in Dutch children who differ in familial risk (FR) for dyslexia. Previous studies with FR-children were inconclusive regarding the performance of FR-children without dyslexia as compared to the controls. Moreover, van Bergen et al. (2011) recently showed that…

  8. Associations among Measures of Sequential Processing in Motor and Linguistics Tasks in Adults with and without a Family History of Childhood Apraxia of Speech: A Replication Study

    Science.gov (United States)

    Button, Le; Peter, Beate; Stoel-Gammon, Carol; Raskind, Wendy H.

    2013-01-01

    The purpose of this study was to address the hypothesis that childhood apraxia of speech (CAS) is influenced by an underlying deficit in sequential processing that is also expressed in other modalities. In a sample of 21 adults from five multigenerational families, 11 with histories of various familial speech sound disorders, 3 biologically…

  9. Exploring Perspectives of Individuals with Intellectual Disabilities and Histories of Challenging Behaviors about Family Relationships: An Emergent Topic in a Grounded Theory Focus Group Study

    Science.gov (United States)

    Brown, Julie F.; Hamilton-Mason, Johnnie; Maramaldi, Peter; Barnhill, L. Jarrett

    2016-01-01

    The perspectives of individuals with intellectual disabilities (ID) about family relationships are underrepresented in the literature. The topic of family relationships emerged in a grounded theory exploratory focus group study that involved thirty dually diagnosed participants with moderate or mild intellectual disabilities and histories of…

  10. Effect of acute tryptophan depletion on emotions in individuals with personal and family history of depression following a mood induction.

    Science.gov (United States)

    Altman, Sarah E; Shankman, Stewart A; Spring, Bonnie

    2010-08-01

    Acute tryptophan depletion (ATD) has shown depletion-specific increases in depressed mood and overall depressive symptoms, especially in those with a family history and in remitted patients. However, its effect on a broad range of emotions beyond depressed mood has been inconsistent, and studies have rarely employed a negative mood induction. The present double-blind study administered tryptophan-depleted and taste-matched placebo challenge drinks to individuals with a past diagnosis and family history of depression (i.e. depression-vulnerable subjects) and controls in order to investigate the effect of ATD on positive affect, anxiety, anger and depressed mood following a negative mood induction. Certain aspects of positive affect decreased due to ATD in the depression vulnerables but not in the controls. No differential effects were found on depressed mood and anxiety. A stress-induced blunted hedonic capacity may increase vulnerability to ATD and may be a core emotional abnormality in depression. Additionally, serotonin may have a stronger influence on positive affect than on other depression-related emotions during periods of stress. (c) 2010 S. Karger AG, Basel.

  11. Parental Divorce and Family History of Alcohol Disorder: Associations with Young Adults' Alcohol Problems, Marijuana Use, and Interpersonal Relations.

    Science.gov (United States)

    Windle, Michael; Windle, Rebecca C

    2018-06-01

    This study used prospective data from 706 young adults to evaluate the impact of parental divorce and family history of alcoholism (FH+) on the outcomes of offspring alcohol problems, marijuana use, and interpersonal relationships with parents. Assessments of parental divorce were based on parent reports, and young adult outcomes were collected from an offspring cohort (n = 706; X age = 33.25 years; females = 53%) via computer-based individual interviews (CAPI and ACASI). Family history of alcohol disorders for parents was based on assessments by mothers, fathers, and young adults. Parental divorce significantly predicted marijuana use but not alcohol problems. Maternal, but not paternal, alcoholism also significantly predicted marijuana use. Two-way interactions indicated that sex moderated several of the relationships. For example, among those with divorced parents, daughters reported higher levels of conflict with fathers than sons, and sons reported lower levels of maternal support than daughters. Paternal alcoholism was also associated with higher levels of alcohol problems among sons relative to daughters. There was also a significant 2-way interaction between divorce status and maternal alcoholism indicating that young adults who experienced both maternal alcoholism and parental divorce had the highest levels of marijuana use. These findings highlight the role that parental divorce and FH+ have on alcohol problems, marijuana use, and interpersonal relationships in young adulthood, and how sex may moderate some of these more nuanced relationships. Copyright © 2018 by the Research Society on Alcoholism.

  12. Distinguishing bipolar II depression from major depressive disorder with comorbid borderline personality disorder: demographic, clinical, and family history differences.

    Science.gov (United States)

    Zimmerman, Mark; Martinez, Jennifer H; Morgan, Theresa A; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy

    2013-09-01

    Because of the potential treatment implications, it is clinically important to distinguish between bipolar II depression and major depressive disorder with comorbid borderline personality disorder. The high frequency of diagnostic co-occurrence and resemblance of phenomenological features has led some authors to suggest that borderline personality disorder is part of the bipolar spectrum. Few studies have directly compared patients with bipolar disorder and borderline personality disorder. In the present study from the Rhode Island Methods to Improve Diagnostic Assessment and Services project, we compared these 2 groups of patients on demographic, clinical, and family history variables. From December 1995 to May 2012, 3,600 psychiatric patients presenting to the outpatient practice at Rhode Island Hospital (Providence, Rhode Island) were evaluated with semistructured diagnostic interviews for DSM-IV Axis I and Axis II disorders. The focus of the present study is the 206 patients with DSM-IV major depressive disorder and borderline personality disorder (MDD-BPD) and 62 patients with DSM-IV bipolar II depression without borderline personality disorder. The patients with MDD-BPD were significantly more often diagnosed with posttraumatic stress disorder (P depression had a significantly higher morbid risk for bipolar disorder in their first-degree relatives than the MDD-BPD patients (P depression and major depressive disorder with comorbid borderline personality disorder differed on a number of clinical and family history variables, thereby supporting the validity of this distinction. © Copyright 2013 Physicians Postgraduate Press, Inc.

  13. Phylogenetic relationships and evolutionary history of the reef fish family Labridae.

    Science.gov (United States)

    Westneat, Mark W; Alfaro, Michael E

    2005-08-01

    The family Labridae (including scarines and odacines) contains 82 genera and about 600 species of fishes that inhabit coastal and continental shelf waters in tropical and temperate oceans throughout the world. The Labridae (the wrasses) is the fifth largest fish family and second largest marine fish family, and is one of the most morphologically and ecologically diversified families of fishes in size, shape, and color. Labrid phylogeny is a long-standing problem in ichthyology that is part of the larger question of relationships within the suborder Labroidei. A phylogenetic analysis of labrids was conducted to investigate relationships among the six classical tribes of wrasses, the affinities of the wrasses to the parrotfishes (scarines), and the broad phylogenetic structure among labrid genera. Four gene fragments were sequenced from 98 fish species, including 84 labrid fishes and 14 outgroup taxa. Taxa were chosen from all major labrid clades and most major global ocean regions where labrid fishes exist, as well as cichlid, pomacentrid, and embiotocid outgroups. From the mitochondrial genome we sequenced portions of 12S rRNA (1000 bp) and 16S rRNA (585 bp), which were aligned by using a secondary structure model. From the nuclear genome, we sequenced part of the protein-coding genes RAG2 (846 bp) and Tmo4C4 (541 bp). Maximum likelihood, maximum parsimony, and Bayesian analyses on the resulting 2972 bp of DNA sequence produced similar topologies that confirm the monophyly of a family Labridae that includes the parrotfishes and butterfishes and strong support for many previously identified taxonomic subgroups. The tribe Hypsigenyini (hogfishes, tuskfishes) is the sister group to the remaining labrids and includes odacines and the chisel-tooth wrasse Pseudodax moluccanus, a species previously considered close to scarines. Cheilines and scarines are sister-groups, closely related to the temperate Labrini, and pseudocheilines and cheilines are split in all phylogenies

  14. Assessing the family dynamics of childhood maltreatment history with the Childhood Attachment and Relational Trauma Screen (CARTS

    Directory of Open Access Journals (Sweden)

    Paul Frewen

    2015-08-01

    Full Text Available Background: Existing survey measures of childhood trauma history generally fail to take into account the relational-socioecological environment in which childhood maltreatment occurs. Variables such as the relationship between the perpetrator and the victim, the emotional availability of caregivers, witnessing the abuse of others, and the respondent's own thoughts, feelings, and actions in response to maltreatment are rarely assessed by current measures. Methods: To address these concerns, the current study further investigated the family dynamics of childhood maltreatment using the Childhood Attachment and Relational Trauma Screen (CARTS in 1,782 persons assessed online. Results: Paired differences in means between item-rated descriptiveness of self, mothers, and fathers suggested that respondents’ relationship with their biological fathers was less positive and secure than their relationship with their biological mothers, and that biological fathers were more often the perpetrator of emotional, physical, and sexual abuse than biological mothers. However, results further suggested that ratings between self, mothers, and fathers were positively correlated such that, for example, reports of a mother's or a respondent's own abusive behavior were more likely in the presence of reports of a father's abusive behavior. In addition, analyses evaluating witnessing violence demonstrated that fathers were rated as more often violent toward mothers than the reverse, although intimate partner violence was also frequently bidirectional. Analyses of sibling ratings further demonstrated that older brothers were either as or more frequently abusive when compared with parents. Finally, results suggested that childhood emotional, physical, and sexual abuse were much more often perpetrated by family members than extra-familial and non-family members. Conclusions: In so far as these findings are consistent with the prior childhood trauma and attachment literature

  15. Ethical issues related to computerised family medical histories in sickle cell disease: Inforare.

    Science.gov (United States)

    Franrenet, Sandra; Duchange, Nathalie; Galactéros, Fréderic; Quantin, Catherine; Cohen, Olivier; Nzouakou, Ruben; Sudraud, Sophie; Hervé, Christian; Moutel, Grégoire

    2010-10-01

    The Inforare project aims to set up a system for the sharing of clinical and familial data, in order to study how genes are related to the severity of sickle cell disease. While the computerisation of clinical records represents a valuable research goal, an ethical framework is necessary to guarantee patients' protection and their rights in this developing field. Issues relating to patient information during the Inforare study were analysed by the steering committee. Several major concerns were discussed by the committee and formalized in the patients' information letter: educating patients to aid the recruitment of family members, rules of confidentiality and the disclosure of aggregate, individual and unexpected research results. This paper presents the main issues addressed.

  16. Relationships between reward sensitivity, risk-taking and family history of alcoholism during an interactive competitive fMRI task.

    Directory of Open Access Journals (Sweden)

    Haley L Yarosh

    Full Text Available Individuals with a positive family history for alcoholism (FHP have shown differences from family-history-negative (FHN individuals in the neural correlates of reward processing. FHP, compared to FHN individuals, demonstrate relatively diminished ventral striatal activation during anticipation of monetary rewards, and the degree of ventral striatal activation shows an inverse correlation with specific impulsivity measures in alcohol-dependent individuals. Rewards in socially interactive contexts relate importantly to addictive propensities, yet have not been examined with respect to how their neural underpinnings relate to impulsivity-related measures. Here we describe impulsivity measures in FHN and FHP individuals as they relate to a socially interactive functional magnetic resonance imaging (fMRI task.Forty FHP and 29 FHN subjects without histories of Axis-I disorders completed a socially interactive Domino task during functional magnetic resonance imaging and completed self-report and behavioral impulsivity-related assessments.FHP compared to FHN individuals showed higher scores (p = .004 on one impulsivity-related factor relating to both compulsivity (Padua Inventory and reward/punishment sensitivity (Sensitivity to Punishment/Sensitivity to Reward Questionnaire. Multiple regression analysis within a reward-related network revealed a correlation between risk-taking (involving another impulsivity-related factor, the Balloon Analog Risk Task (BART and right ventral striatum activation under reward >punishment contrast (p<0.05 FWE corrected in the social task.Behavioral risk-taking scores may be more closely associated with neural correlates of reward responsiveness in socially interactive contexts than are FH status or impulsivity-related self-report measures. These findings suggest that risk-taking assessments be examined further in socially interactive settings relevant to addictive behaviors.

  17. Impulsive aggression, delay discounting, and adolescent suicide attempts: effects of current psychotropic medication use and family history of suicidal behavior.

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    Bridge, Jeffrey A; Reynolds, Brady; McBee-Strayer, Sandra M; Sheftall, Arielle H; Ackerman, John; Stevens, Jack; Mendoza, Kristen; Campo, John V; Brent, David A

    2015-03-01

    Impulsive-aggressive behaviors have been consistently implicated in the phenomenology, neurobiology, and familial aggregation of suicidal behavior. The purpose of this study was to extend previous work by examining laboratory behavioral measures of delayed reward impulsivity and impulsive aggression in adolescent suicide attempters and never-suicidal comparison subjects. Using the Point Subtraction Aggression Paradigm (PSAP) and the Delay Discounting Task (DDQ), the authors examined delay discounting and impulsive aggression in 40 adolescent suicide attempters, ages 13-18, and 40 never-suicidal, demographically matched psychiatric comparison subjects. Overall, suicide attempters and comparison subjects performed similarly on the PSAP and DDQ. There was a significant group by current psychotropic medication use interaction (p=0.013) for mean aggressive responses on the PSAP. Group comparisons revealed that attempters emitted more aggressive responses per provocation than comparison subjects, only in those not on psychotropic medication (p=0.049), whereas for those currently treated with psychotropic medication, there were no group differences (p>0.05). This interaction effect was specific to current antidepressant use. Among all subjects, family history of suicidal behavior (suicide or suicide attempt) in first degree relatives was significantly correlated with both delay discounting (r=-0.22, p=0.049), and aggressive responding (r=0.27, p=0.015). Family history of suicidal behavior was associated with delay discounting, but not with aggressive responding on the PSAP, after controlling for relevant covariates. In this study, impulsive-aggressive responding was associated with suicide attempt only in those not being treated with antidepressants. Future work to replicate and extend these findings could have important therapeutic implications for the treatment of depressed suicide attempters, many of whom are affected by impulsive aggression.

  18. Association Between Cleft Lip and/or Cleft Palate and Family History of Cancer: A Case-Control Study.

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    Bui, Anthony H; Ayub, Ayisha; Ahmed, Mairaj K; Taioli, Emanuela; Taub, Peter J

    2018-04-01

    Cleft lip and/or cleft palate (CL ± P) are among the most common congenital anomalies. Nevertheless, their etiologies remain poorly understood. Several studies have demonstrated increased rates of cancer among patients with CL ± P and their relatives, as well as increased risk of CL ± P among family members of cancer survivors. In addition, a number of possible genetic associations between cancer and CL ± P have been identified. However, these studies are limited by confounding factors that may be prevalent in these patients, such as tobacco exposure and perinatal complications.The purpose of this study was to quantitatively evaluate the association between family history of cancer and development of CL ± P in the child. A case-control study was conducted at the Cleft Hospital and the Bashir Hospital in Gujrat, Pakistan from December 2015 to December 2016. All new cases of CL ± P at the Cleft Hospital were included. Sociodemographically similar patients without congenital malformations at the Bashir Hospital served as controls. Risk factors associated with CL ± P were identified through bivariate analyses. Multiple logistic regressions were performed to calculate adjusted odds ratios of developing CL ± P. There were 137 patients with CL ± P and 147 controls in the study. The following factors were statistically significantly associated with development of cleft: history of cancer in the family (P consanguineous marriage (parents are first or second cousins) (P = 0.03), lower socioeconomic status (P relationship between CL ± P and cancer that has been adjusted for confounders traditionally associated with patients with CL ± P, thereby supporting the evidence of shared environmental and/or genetic etiologies.

  19. Expansion, retention and loss in the Acyl-CoA synthetase "Bubblegum" (Acsbg) gene family in vertebrate history.

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    Lopes-Marques, Mónica; Machado, André M; Ruivo, Raquel; Fonseca, Elza; Carvalho, Estela; Castro, L Filipe C

    2018-07-20

    Fatty acids (FAs) constitute a considerable fraction of all lipid molecules with a fundamental role in numerous physiological processes. In animals, the majority of complex lipid molecules are derived from the transformation of FAs through several biochemical pathways. Yet, for FAs to enroll in these pathways they require an activation step. FA activation is catalyzed by the rate limiting action of Acyl-CoA synthases. Several Acyl-CoA enzyme families have been previously described and classified according to the chain length of FAs they process. Here, we address the evolutionary history of the ACSBG gene family which activates, FAs with >16 carbons. Currently, two different ACSBG gene families, ACSBG1 and ACSBG2, are recognized in vertebrates. We provide evidence that a wider and unequal ACSBG gene repertoire is present in vertebrate lineages. We identify a novel ACSBG-like gene lineage which occurs specifically in amphibians, ray finned fishes, coelacanths and cartilaginous fishes named ACSBG3. Also, we show that the ACSBG2 gene lineage duplicated in the Theria ancestor. Our findings, thus offer a far richer understanding on FA activation in vertebrates and provide key insights into the relevance of comparative and functional analysis to perceive physiological differences, namely those related with lipid metabolic pathways. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

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    Hewitt Jane E

    2010-11-01

    Full Text Available Abstract Background DUX4 is causally involved in the molecular pathogenesis of the neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD. It has previously been proposed to have arisen by retrotransposition of DUXC, one of four known intron-containing DUX genes. Here, we investigate the evolutionary history of this multi-member double-homeobox gene family in eutherian mammals. Results Our analysis of the DUX family shows the distribution of different homologues across the mammalian class, including events of secondary loss. Phylogenetic comparison, analysis of gene structures and information from syntenic regions confirm the paralogous relationship of Duxbl and DUXB and characterize their relationship with DUXA and DUXC. We further identify Duxbl pseudogene orthologues in primates. A survey of non-mammalian genomes identified a single-homeobox gene (sDUX as a likely representative homologue of the mammalian DUX ancestor before the homeobox duplication. Based on the gene structure maps, we suggest a possible mechanism for the generation of the DUX gene structure. Conclusions Our study underlines how secondary loss of orthologues can obscure the true ancestry of individual gene family members. Their relationships should be considered when interpreting the relevance of functional data from DUX4 homologues such as Dux and Duxbl to FSHD.

  1. Polygenic Risk Score, Parental Socioeconomic Status, Family History of Psychiatric Disorders, and the Risk for Schizophrenia: A Danish Population-Based Study and Meta-analysis.

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    Agerbo, Esben; Sullivan, Patrick F; Vilhjálmsson, Bjarni J; Pedersen, Carsten B; Mors, Ole; Børglum, Anders D; Hougaard, David M; Hollegaard, Mads V; Meier, Sandra; Mattheisen, Manuel; Ripke, Stephan; Wray, Naomi R; Mortensen, Preben B

    2015-07-01

    Schizophrenia has a complex etiology influenced both by genetic and nongenetic factors but disentangling these factors is difficult. To estimate (1) how strongly the risk for schizophrenia relates to the mutual effect of the polygenic risk score, parental socioeconomic status, and family history of psychiatric disorders; (2) the fraction of cases that could be prevented if no one was exposed to these factors; (3) whether family background interacts with an individual's genetic liability so that specific subgroups are particularly risk prone; and (4) to what extent a proband's genetic makeup mediates the risk associated with familial background. We conducted a nested case-control study based on Danish population-based registers. The study consisted of 866 patients diagnosed as having schizophrenia between January 1, 1994, and December 31, 2006, and 871 matched control individuals. Genome-wide data and family psychiatric and socioeconomic background information were obtained from neonatal biobanks and national registers. Results from a separate meta-analysis (34,600 cases and 45,968 control individuals) were applied to calculate polygenic risk scores. Polygenic risk scores, parental socioeconomic status, and family psychiatric history. Odds ratios (ORs), attributable risks, liability R2 values, and proportions mediated. Schizophrenia was associated with the polygenic risk score (OR, 8.01; 95% CI, 4.53-14.16 for highest vs lowest decile), socioeconomic status (OR, 8.10; 95% CI, 3.24-20.3 for 6 vs no exposures), and a history of schizophrenia/psychoses (OR, 4.18; 95% CI, 2.57-6.79). The R2 values were 3.4% (95% CI, 2.1-4.6) for the polygenic risk score, 3.1% (95% CI, 1.9-4.3) for parental socioeconomic status, and 3.4% (95% CI, 2.1-4.6) for family history. Socioeconomic status and psychiatric history accounted for 45.8% (95% CI, 36.1-55.5) and 25.8% (95% CI, 21.2-30.5) of cases, respectively. There was an interaction between the polygenic risk score and family history

  2. Neuropsychological performance and family history in children at age 7 who develop adult schizophrenia or bipolar psychosis in the New England Family Studies.

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    Seidman, L J; Cherkerzian, S; Goldstein, J M; Agnew-Blais, J; Tsuang, M T; Buka, S L

    2013-01-01

    Persons developing schizophrenia (SCZ) manifest various pre-morbid neuropsychological deficits, studied most often by measures of IQ. Far less is known about pre-morbid neuropsychological functioning in individuals who later develop bipolar psychoses (BP). We evaluated the specificity and impact of family history (FH) of psychosis on pre-morbid neuropsychological functioning. We conducted a nested case-control study investigating the associations of neuropsychological data collected systematically at age 7 years for 99 adults with psychotic diagnoses (including 45 SCZ and 35 BP) and 101 controls, drawn from the New England cohort of the Collaborative Perinatal Project (CPP). A mixed-model approach evaluated full-scale IQ, four neuropsychological factors derived from principal components analysis (PCA), and the profile of 10 intelligence and achievement tests, controlling for maternal education, race and intra-familial correlation. We used a deviant responder approach (children who later develop SCZ, especially in the SCZ FH+ subgroup, but less so in BP, suggesting especially impaired neurodevelopment underlying cognition in pre-SCZ children. Future work should assess genetic and environmental factors that explain this FH effect.

  3. Evolutionary history of chordate PAX genes: dynamics of change in a complex gene family.

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    Vanessa Rodrigues Paixão-Côrtes

    Full Text Available Paired box (PAX genes are transcription factors that play important roles in embryonic development. Although the PAX gene family occurs in animals only, it is widely distributed. Among the vertebrates, its 9 genes appear to be the product of complete duplication of an original set of 4 genes, followed by an additional partial duplication. Although some studies of PAX genes have been conducted, no comprehensive survey of these genes across the entire taxonomic unit has yet been attempted. In this study, we conducted a detailed comparison of PAX sequences from 188 chordates, which revealed restricted variation. The absence of PAX4 and PAX8 among some species of reptiles and birds was notable; however, all 9 genes were present in all 74 mammalian genomes investigated. A search for signatures of selection indicated that all genes are subject to purifying selection, with a possible constraint relaxation in PAX4, PAX7, and PAX8. This result indicates asymmetric evolution of PAX family genes, which can be associated with the emergence of adaptive novelties in the chordate evolutionary trajectory.

  4. Complete mitochondrial genomes reveal phylogeny relationship and evolutionary history of the family Felidae.

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    Zhang, W Q; Zhang, M H

    2013-09-03

    Many mitochondrial DNA sequences are used to estimate phylogenetic relationships among animal taxa and perform molecular phylogenetic evolution analysis. With the continuous development of sequencing technology, numerous mitochondrial sequences have been released in public databases, especially complete mitochondrial DNA sequences. Using multiple sequences is better than using single sequences for phylogenetic analysis of animals because multiple sequences have sufficient information for evolutionary process reconstruction. Therefore, we performed phylogenetic analyses of 14 species of Felidae based on complete mitochondrial genome sequences, with Canis familiaris as an outgroup, using neighbor joining, maximum likelihood, maximum parsimony, and Bayesian inference methods. The consensus phylogenetic trees supported the monophyly of Felidae, and the family could be divided into 2 subfamilies, Felinae and Pantherinae. The genus Panthera and species tigris were also studied in detail. Meanwhile, the divergence of this family was estimated by phylogenetic analysis using the Bayesian method with a relaxed molecular clock, and the results shown were consistent with previous studies. In summary, the evolution of Felidae was reconstructed by phylogenetic analysis based on mitochondrial genome sequences. The described method may be broadly applicable for phylogenetic analyses of anima taxa.

  5. Blood Pressure and Its Association with Gender, Body Mass Index, Smoking, and Family History among University Students

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    Hussein H. Alhawari

    2018-01-01

    Full Text Available Hypertension is one of the major risk factors associated with cardiovascular diseases. In this study, we will assess the frequency of hypertension among healthy university students and its association with gender, body mass index, smoking, and family history of both hypertension and cardiovascular diseases. We screened healthy university students ranging from 18 to 26 years of age. For each participant, we performed blood pressure measurements using a previously validated device and obtained demographic data, body mass index (BMI, smoking status, and family history of both hypertension and cardiovascular diseases. Out of the total number of 505 participants included in this study, 35.2% have blood pressure between 130/80 and 139/89, and 13.5% have blood pressure of more than 140/90. We found significant gender differences in both systolic pressure (p = 0.003 with mean difference = 18.08 mmHg (CI: 16.13 to 19.9 and diastolic pressure (p = 0.011 with mean difference = 3.6 mmHg (CI: 2.06 to 5.14, higher in males than in females. Upon comparing the mean difference in both systolic and diastolic blood pressure with BMI, we found significant differences in both systolic (p < 0.001 and diastolic (p = 0.002 blood pressure. We also found that smokers have significantly (p = 0.025 higher systolic blood pressure (mean difference = 4.2 mmHg, CI: 3.2 mmHg to 8.8 mmHg, but no significant difference for diastolic blood pressure (p = 0.386, compared to nonsmokers. First-degree family history of both hypertension and cardiovascular diseases affected systolic but not diastolic blood pressure. Taking into account the adverse short- and long-term effect of hypertension, we recommend adopting an awareness program highlighting the importance of screening blood pressure in young adolescent populations, keeping in mind that both high BMI and smoking are important modifiable factors.

  6. Ancestral amphibian v2rs are expressed in the main olfactory epithelium

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    Syed, Adnan S.; Sansone, Alfredo; Nadler, Walter; Manzini, Ivan; Korsching, Sigrun I.

    2013-01-01

    Mammalian olfactory receptor families are segregated into different olfactory organs, with type 2 vomeronasal receptor (v2r) genes expressed in a basal layer of the vomeronasal epithelium. In contrast, teleost fish v2r genes are intermingled with all other olfactory receptor genes in a single sensory surface. We report here that, strikingly different from both lineages, the v2r gene family of the amphibian Xenopus laevis is expressed in the main olfactory as well as the vomeronasal epithelium. Interestingly, late diverging v2r genes are expressed exclusively in the vomeronasal epithelium, whereas “ancestral” v2r genes, including the single member of v2r family C, are restricted to the main olfactory epithelium. Moreover, within the main olfactory epithelium, v2r genes are expressed in a basal zone, partially overlapping, but clearly distinct from an apical zone of olfactory marker protein and odorant receptor-expressing cells. These zones are also apparent in the spatial distribution of odor responses, enabling a tentative assignment of odor responses to olfactory receptor gene families. Responses to alcohols, aldehydes, and ketones show an apical localization, consistent with being mediated by odorant receptors, whereas amino acid responses overlap extensively with the basal v2r-expressing zone. The unique bimodal v2r expression pattern in main and accessory olfactory system of amphibians presents an excellent opportunity to study the transition of v2r gene expression during evolution of higher vertebrates. PMID:23613591

  7. Seroepidemiology of Fasciola Hepatica in Mersin province and surrounding towns and the role of family history of the Fascioliasis in the transmission of the parasite.

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    Ozturhan, Hakan; Emekdaş, Gürol; Sezgin, Orhan; Korkmaz, Metin; Altintaş, Engin

    2009-09-01

    Fascioliasis is an important zoonotic disease caused by Fasciola hepatica. This zoonosis may cause serious morbidity and a considerable financial burden. Knowledge about Fasciola hepatica and interest in this parasite have increased in Turkey recently. However, there have been few studies on the real prevalence of this condition in the country. Therefore, we aimed to determine the prevalence of fascioliasis and the role of family history of the condition in the transmission of the parasite in the province of Mersin. Taking account of their populations, 729 people without a family history of fascioliasis and 155 people with a family history of fascioliasis from the city of Mersin and randomly selected three towns were included into the study to obtain a sample that well represented the population of the province of Mersin. A questionnaire composed of items about consumption of green leafy vegetables, stock-breeding and clinical symptoms of the disease was used to collect data. Excretory/ secretory (ES)-ELISA was used to detect IgG antibodies to Fasciola hepatica. People seropositive for Fasciola hepatica underwent abdominal ultrasonography, physical examination, biochemistry, and stool tests for the detection of Fasciola hepatica eggs. A total of 0.79% of the participants were seropositive for Fasciola hepatica. One point ninety-three percent of the individuals with a family history of fascioliasis and 0.55% of the individuals without a family history of fascioliasis were seropositive for Fasciola hepatica. Out of 7 individuals found to be seropositive for Fasciola hepatica, 5 were female, 2 were male, and 4 had a family history of fascioliasis. Five and 4 patients, respectively, had a history of consuming green leafy vegetables and 4 had a history of stock-breeding. The clinical evaluation revealed that 4 patients had at least one sign of fascioliasis. Three patients had signs of fascioliasis on ultrasonography and 1 had Fasciola hepatica egg in stool examination

  8. Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.

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    Kohut, Kelly; D'Mello, Lucia; Bancroft, Elizabeth K; Thomas, Sarah; Young, Mary-Anne; Myhill, Kathryn; Shanley, Susan; Briggs, Brian H J; Newman, Michelle; Saraf, Ifthikhar M; Cox, Penny; Scambler, Sarah; Wagman, Lyndon; Wyndham, Michael T; Eeles, Rosalind A; Ferris, Michelle

    2012-03-01

    At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment

  9. Family history and obesity in youth, their effect on acylcarnitine/aminoacids metabolomics and non-alcoholic fatty liver disease (NAFLD). Structural equation modeling approach.

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    Romero-Ibarguengoitia, Maria Elena; Vadillo-Ortega, Felipe; Caballero, Augusto Enrique; Ibarra-González, Isabel; Herrera-Rosas, Arturo; Serratos-Canales, María Fabiola; León-Hernández, Mireya; González-Chávez, Antonio; Mummidi, Srinivas; Duggirala, Ravindranath; López-Alvarenga, Juan Carlos

    2018-01-01

    Structural equation modeling (SEM) can help understanding complex functional relationships among obesity, non-alcoholic fatty liver disease (NAFLD), family history of obesity, targeted metabolomics and pro-inflammatory markers. We tested two hypotheses: 1) If obesity precedes an excess of free fatty acids that increase oxidative stress and mitochondrial dysfunction, there would be an increase of serum acylcarnitines, amino acids and cytokines in obese subjects. Acylcarnitines would be related to non-alcoholic fatty disease that will induce insulin resistance. 2) If a positive family history of obesity and type 2 diabetes are the major determinants of the metabolomic profile, there would be higher concentration of amino acids and acylcarnitines in patients with this background that will induce obesity and NAFLD which in turn will induce insulin resistance. 137 normoglycemic subjects, mean age (SD) of 30.61 (8.6) years divided in three groups: BMI30 with absence of NAFLD (G2), n = 24; and BMI>30 with NAFLD (G3), n = 31. Family history of obesity (any) was present in 53%. Both models were adjusted in SEM. Family history of obesity predicted obesity but could not predict acylcarnitines and amino acid concentrations (effect size obesity phenotype. Family history of obesity is the major predictor of obesity, and the metabolic abnormalities on amino acids, acylcarnitines, inflammation, insulin resistance, and NAFLD.

  10. Family history and obesity in youth, their effect on acylcarnitine/aminoacids metabolomics and non-alcoholic fatty liver disease (NAFLD. Structural equation modeling approach.

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    Maria Elena Romero-Ibarguengoitia

    Full Text Available Structural equation modeling (SEM can help understanding complex functional relationships among obesity, non-alcoholic fatty liver disease (NAFLD, family history of obesity, targeted metabolomics and pro-inflammatory markers. We tested two hypotheses: 1 If obesity precedes an excess of free fatty acids that increase oxidative stress and mitochondrial dysfunction, there would be an increase of serum acylcarnitines, amino acids and cytokines in obese subjects. Acylcarnitines would be related to non-alcoholic fatty disease that will induce insulin resistance. 2 If a positive family history of obesity and type 2 diabetes are the major determinants of the metabolomic profile, there would be higher concentration of amino acids and acylcarnitines in patients with this background that will induce obesity and NAFLD which in turn will induce insulin resistance.137 normoglycemic subjects, mean age (SD of 30.61 (8.6 years divided in three groups: BMI30 with absence of NAFLD (G2, n = 24; and BMI>30 with NAFLD (G3, n = 31. Family history of obesity (any was present in 53%. Both models were adjusted in SEM. Family history of obesity predicted obesity but could not predict acylcarnitines and amino acid concentrations (effect size <0.2, but did predict obesity phenotype.Family history of obesity is the major predictor of obesity, and the metabolic abnormalities on amino acids, acylcarnitines, inflammation, insulin resistance, and NAFLD.

  11. Correlation between familial cancer history and epidermal growth factor receptor mutations in Taiwanese never smokers with non-small cell lung cancer: a case-control study.

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    Cheng, Po-Chung; Cheng, Yun-Chung

    2015-03-01

    Lung cancer is a leading cause of cancer deaths in the world. Cigarette smoking remains a prominent risk factor, but lung cancer incidence has been increasing in never smokers. Genetic abnormalities including epidermal growth factor receptor (EGFR) mutations predominate in never smoking lung cancer patients. Furthermore, familial aggregations of patients with these mutations reflect heritable susceptibility to lung cancer. The correlation between familial cancer history and EGFR mutations in never smokers with lung cancer requires investigation. This was a retrospective case-control study that evaluated the prevalence of EGFR mutations in lung cancer patients with familial cancer history. Never smokers with lung cancer treated at a hospital in Taiwan between April 2012 and May 2014 were evaluated. Inclusion criteria were never smokers with non-small cell lung cancer (NSCLC). Exclusion criteria involved patients without records of familial cancer history or tumor genotype. This study included 246 never smokers with lung cancer. The study population mainly involved never smoking women with a mean age of 60 years, and the predominant tumor histology was adenocarcinoma. Lung cancer patients with familial cancer history had an increased prevalence of EGFR mutations compared to patients without family history [odds ratio (OR): 5.9; 95% confidence interval (CI): 3.3-10.6; Pnon-pulmonary cancers (OR: 5.0; 95% CI: 2.5-10.0; Pnever smoking lung cancer patients with familial cancer history. Moreover, a sizable proportion of never smoking cancer patients harbored these mutations. These observations have implications for the treatment of lung cancer in never smokers.

  12. The Innisfree meteorite: Dynamical history of the orbit - Possible family of meteor bodies

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    Galibina, I. V.; Terent'eva, A. K.

    1987-09-01

    Evolution of the Innisfree meteorite orbit caused by secular perturbations is studied over the time interval of 500000 yrs (from the current epoch backwards). Calculations are made by the Gauss-Halphen-Gorjatschew method taking into account perturbations from the four outer planets - Jupiter, Saturn, Uranus and Neptune. In the above mentioned time interval the meteorite orbit has undergone no essential transformations. The Innisfree orbit intersected in 91 cases the Earth orbit and in 94 - the Mars orbit. A system of small and large meteor bodies (producing ordinary meteors and fireballs) which may be genetically related to the Innisfree meteorite has been found, i.e. there probably exists an Innisfree family of meteor bodies.

  13. The collection of type specimens of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain

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    Viñolas, A.

    2014-05-01

    Full Text Available The type collection of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain, has been organised, revised and documented. It contains 430 type specimens belonging to 155 different taxa. Of note are the large number of hypogean species, the species of Cicindelidae from Asenci Codina’s collection, and the species of Harpalinae extracted from Jacques Nègre’s collection. In this paper we provide all the available information related to these type specimens. We therefore provide the following information for each taxon, species or subspecies: the original and current taxonomic status, original citation of type materials, exact transcription of original labels, and preservation condition of specimens. Moreover, the differences between original descriptions and labels are discussed. When a taxonomic change has occurred, the references that examine those changes are included at the end of the taxa description.

  14. How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

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    Mapes, Marianna V; O'Brien, Barbara M; King, Louise P

    2017-07-01

    Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. © 2017 American Medical Association. All Rights Reserved.

  15. Reinstatement of "germinal epithelium" of the ovary

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    Nishida Naoyo

    2006-08-01

    Full Text Available Abstract Background The existing dogma that the former term ovarian "germinal epithelium" resulted from a mistaken belief that it could give rise to new germ cells is now strongly challenged. Discussion Two years ago, a research group of the University of Tennessee led by Antonin Bukovsky successfully demonstrated the oogenic process from the human ovarian covering epithelium now commonly called the ovarian surface epithelium. They showed the new oocyte with zona pellucida and granulosa cells, both originated from the surface epithelium arising from mesenchymal cells in the tunica albuginea, and stressed that the human ovary could form primary follicles throughout the reproductive period. This gives a big impact not only to the field of reproductive medicine, but also to the oncologic area. The surface epithelium is regarded as the major source of ovarian cancers, and most of the neoplasms exhibit the histology resembling müllerian epithelia. Since the differentiating capability of the surface epithelium has now expanded, the histologic range of the neoplasms in this category may extend to include both germ cell tumors and sex cord-stromal cell tumors. Summary Since the oogenic capability of ovarian surface cells has been proven, it is now believed that the oocytes can originate from them. The term "germinal epithelium", hence, might reasonably be reinstated.

  16. The predictive power of family history measures of alcohol and drug problems and internalizing disorders in a college population.

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    Kendler, Kenneth S; Edwards, Alexis; Myers, John; Cho, Seung Bin; Adkins, Amy; Dick, Danielle

    2015-07-01

    A family history (FH) of psychiatric and substance use problems is a potent risk factor for common internalizing and externalizing disorders. In a large web-based assessment of mental health in college students, we developed a brief set of screening questions for a FH of alcohol problems (AP), drug problems (DP) and depression-anxiety in four classes of relatives (father, mother, aunts/uncles/grandparents, and siblings) as reported by the student. Positive reports of a history of AP, DP, and depression-anxiety were substantially correlated within relatives. These FH measures predicted in the student, in an expected pattern, dimensions of personality and impulsivity, alcohol consumption and problems, smoking and nicotine dependence, use of illicit drugs, and symptoms of depression and anxiety. Using the mean score from the four classes of relatives was more predictive than using a familial/sporadic dichotomy. Interactions were seen between the FH of AP, DP, and depression-anxiety and peer deviance in predicting symptoms of alcohol and tobacco dependence. As the students aged, the FH of AP became a stronger predictor of alcohol problems. While we cannot directly assess the validity of these FH reports, the pattern of findings suggest that our brief screening items were able to assess, with some accuracy, the FH of substance misuse and internalizing psychiatric disorders in relatives. If correct, these measures can play an important role in the creation of developmental etiologic models for substance and internalizing psychiatric disorders which constitute one of the central goals of the overall project. © 2015 Wiley Periodicals, Inc.

  17. Mammographic density and breast cancer risk in breast screening assessment cases and women with a family history of breast cancer.

    Science.gov (United States)

    Duffy, Stephen W; Morrish, Oliver W E; Allgood, Prue C; Black, Richard; Gillan, Maureen G C; Willsher, Paula; Cooke, Julie; Duncan, Karen A; Michell, Michael J; Dobson, Hilary M; Maroni, Roberta; Lim, Yit Y; Purushothaman, Hema N; Suaris, Tamara; Astley, Susan M; Young, Kenneth C; Tucker, Lorraine; Gilbert, Fiona J

    2018-01-01

    Mammographic density has been shown to be a strong independent predictor of breast cancer and a causative factor in reducing the sensitivity of mammography. There remain questions as to the use of mammographic density information in the context of screening and risk management, and of the association with cancer in populations known to be at increased risk of breast cancer. To assess the association of breast density with presence of cancer by measuring mammographic density visually as a percentage, and with two automated volumetric methods, Quantra™ and VolparaDensity™. The TOMosynthesis with digital MammographY (TOMMY) study of digital breast tomosynthesis in the Breast Screening Programme of the National Health Service (NHS) of the United Kingdom (UK) included 6020 breast screening assessment cases (of whom 1158 had breast cancer) and 1040 screened women with a family history of breast cancer (of whom two had breast cancer). We assessed the association of each measure with breast cancer risk in these populations at enhanced risk, using logistic regression adjusted for age and total breast volume as a surrogate for body mass index (BMI). All density measures showed a positive association with presence of cancer and all declined with age. The strongest effect was seen with Volpara absolute density, with a significant 3% (95% CI 1-5%) increase in risk per 10 cm 3 of dense tissue. The effect of Volpara volumetric density on risk was stronger for large and grade 3 tumours. Automated absolute breast density is a predictor of breast cancer risk in populations at enhanced risk due to either positive mammographic findings or family history. In the screening context, density could be a trigger for more intensive imaging. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. The impact of family history of breast cancer on knowledge, attitudes, and early detection practices of Mexican women along the Mexico-US border.

    Science.gov (United States)

    Bird, Yelena; Banegas, Matthew P; Moraros, John; King, Sasha; Prapasiri, Surasri; Thompson, Beti

    2011-10-01

    Rates of breast cancer (BC) have increased in Mexico, with the highest incidence and mortality rates observed in the northern Mexican states. This study aimed to describe the BC knowledge, attitudes and screening practices among Mexican women with and without a family history of BC residing along the Mexico-US border, and identify factors associated with screening behaviors. One hundred and twenty eight Mexican women aged 40 and older completed an interviewer-administered questionnaire on sociodemographic characteristics, knowledge, family history, and screening practices. There were no significant differences between Mexican women with and without a family history. Over 60% of women in both groups had never had a mammogram/breast ultrasound, and more than 50% had never obtained a clinical breast exam. Age, marital status, insurance, and breast cancer knowledge significantly influenced BC screening behaviors among Mexican women. Further research is needed to examine other key factors associated with screening utilization, in effort of improving BC rates.

  19. Influence of family history, irradiation and anti-cancer drug (mitomycin C) on the occurrence of multiple primary neoplasms in breast carcinoma patients

    International Nuclear Information System (INIS)

    Yoshimoto, Masataka; Sakamoto, Goi; Sugano, Haruo; Kasumi, Fujio; Fukami, Atsuo; Kuno, Keijiro.

    1984-01-01

    The influence of family history, irradiation and anti-cancer drug (Mitomycin C) on the occurrence of multiple primary neoplasms was analysed using the person-year method in 1359 Japanese breast carcinoma patients. There were 111 multiple primary neoplasms, including bilaterl breast cancer, in 109 patients; the incidence rate was 0.0072 per person-year. The incidence rate in patients with a family history of cancer was 1.29 times higher than in those without. In the bilateral breast cancer group there was about a 3 times higher frequency of family history of breast cancer. Irradiation therapy raised the occurrence of multiple primary neoplasms 1.28 fold, and Mitomycin C (40 mg) had no effect on the occurrence of neoplasms during a 10-year observation period. (author)

  20. Patterns and processes in the evolutionary history of parrotfishes (Family Labridae)

    KAUST Repository

    Choat, John. H.; klanten, Oya. S.; Van Herwerden, Lynne; Robertson, D. Ross; Clements, Kendall D.

    2012-01-01

    Phylogenetic reconstruction of the evolutionary relationships among 61 of the 70 species of the parrotfish genera Chlorurus and Scarus (Family Labridae) based on mitochondrial and nuclear gene sequences retrieved 15 well-supported clades with mid Pliocene/Pleistocene diversification. Twenty-two reciprocally monophyletic sister-species pairs were identified: 64% were allopatric, and the remainder were sympatric. Age of divergence was similar for allopatric and sympatric species pairs. Sympatric sister pairs displayed greater divergence in morphology, ecology, and sexually dimorphic colour patterns than did allopatric pairs, suggesting that both genetic drift in allopatric species pairs and ecologically adaptive divergence between members of sympatric pairs have played a role in diversification. Basal species typically have small geographical ranges and are restricted to geographically and ecologically peripheral reef habitats. We found little evidence that a single dominant process has driven diversification, nor did we detect a pattern of discrete, sequential stages of diversification in relation to habitat, ecology, and reproductive biology. The evolution of Chlorurus and Scarus has been complex, involving a number of speciation processes. © 2012 The Linnean Society of London.

  1. Patterns and processes in the evolutionary history of parrotfishes (Family Labridae)

    KAUST Repository

    Choat, John. H.

    2012-09-05

    Phylogenetic reconstruction of the evolutionary relationships among 61 of the 70 species of the parrotfish genera Chlorurus and Scarus (Family Labridae) based on mitochondrial and nuclear gene sequences retrieved 15 well-supported clades with mid Pliocene/Pleistocene diversification. Twenty-two reciprocally monophyletic sister-species pairs were identified: 64% were allopatric, and the remainder were sympatric. Age of divergence was similar for allopatric and sympatric species pairs. Sympatric sister pairs displayed greater divergence in morphology, ecology, and sexually dimorphic colour patterns than did allopatric pairs, suggesting that both genetic drift in allopatric species pairs and ecologically adaptive divergence between members of sympatric pairs have played a role in diversification. Basal species typically have small geographical ranges and are restricted to geographically and ecologically peripheral reef habitats. We found little evidence that a single dominant process has driven diversification, nor did we detect a pattern of discrete, sequential stages of diversification in relation to habitat, ecology, and reproductive biology. The evolution of Chlorurus and Scarus has been complex, involving a number of speciation processes. © 2012 The Linnean Society of London.

  2. Family history assessment of personality disorders: II. Association with measures of psychosocial functioning in direct evaluations with relatives.

    Science.gov (United States)

    Lara, M E; Ferro, T; Klein, D N

    1997-01-01

    To test the convergent validity of the Family History Interview for Personality Disorders (FHIPD), as well as the general utility of informants' reports of personality disorders, we explored the relationship between proband informant reports of Axis II diagnoses on the FHIPD and relative reports of various indices of psychosocial adjustment. Subjects were the first degree relatives (n = 454) of 224 probands participating in a family study of mood and personality disorders. Relatives provided information on the Structured Clinical Interview for DSM-III-R (SCID), the Personality Disorder Examination (PDE), and other variables reflecting aspects of psychosocial dysfunction that are common in personality disorders. Proband informants were interviewed about their relatives using the FHIPD Proband informant reports of personality disorders on the FHIPD were associated with a variety of forms of psychosocial dysfunction as determined in direct assessments with the relatives, even for those with no diagnosable Axis II psychopathology dysfunction as determined in direct assessments with the relatives, even for those with no diagnosable Axis II psychopathology on direct interview. These results support the convergent validity of the FHIPD, and suggest that informants may provide important information on Axis II psychopathology that is not obtained from direct interviews with the subjects themselves.

  3. Age at onset of major depressive disorder in Han Chinese women: relationship with clinical features and family history.

    Science.gov (United States)

    Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Shi, Shenxun

    2011-12-01

    Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. Copyright © 2011 Elsevier B.V. All rights reserved.

  4. Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

    Science.gov (United States)

    Sribudiani, Y; Chauhan, R K; Alves, M M; Petrova, L; Brosens, E; Harrison, C; Wabbersen, T; de Graaf, B M; Rügenbrink, T; Burzynski, G; Brouwer, R W W; IJcken, W F J van; Maas, S M; de Klein, A; Osinga, J; Eggen, B J L; Burns, A J; Brooks, A S; Shepherd, I T; Hofstra, R M W

    2018-03-27

    Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation. We initially focused on variants in genes located in 4q31.3-q32.3. However, we also performed an exome-wide analysis in which known HSCR or HSCR-associated gene variants predicted to be deleterious were prioritized for further analysis. Candidate genes were expressed in HEK293, COS-7, and Neuro-2a cells and analyzed by luciferase and immunoblot assays. Morpholinos were designed to target exons of candidate genes and injected into 1-cell stage zebrafish embryos. Embryos were allowed to develop and stained for enteric neurons. Within the linkage region, we identified 1 putative splice variant in the LPS responsive beige-like anchor protein gene (LRBA). Functional assays could not confirm its predicted effect on mRNA splicing or on expression of the mab-21 like 2 gene (MAB21L2), which is embedded in LRBA. Zebrafish that developed following injection of the lrba morpholino had a shortened body axis and subtle gut morphological defects, but no significant reduction in number of enteric neurons compared with controls. Outside the linkage region, members of 1 branch of the family carried a previously unidentified RET variant or an in-frame deletion in the glial cell line derived neurotrophic factor gene (GDNF), which encodes a ligand of RET. This deletion was located 6 base pairs before the last codon. We also found variants in the indian hedgehog gene (IHH) and its mediator

  5. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

    Science.gov (United States)

    Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

    2013-04-01

    In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

  6. Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.

    Science.gov (United States)

    Melin, Beatrice; Dahlin, Anna M; Andersson, Ulrika; Wang, Zhaoming; Henriksson, Roger; Hallmans, Göran; Bondy, Melissa L; Johansen, Christoffer; Feychting, Maria; Ahlbom, Anders; Kitahara, Cari M; Wang, Sophia S; Ruder, Avima M; Carreón, Tania; Butler, Mary Ann; Inskip, Peter D; Purdue, Mark; Hsing, Ann W; Mechanic, Leah; Gillanders, Elizabeth; Yeager, Meredith; Linet, Martha; Chanock, Stephen J; Hartge, Patricia; Rajaraman, Preetha

    2013-05-15

    Familial cancer can be used to leverage genetic association studies. Recent genome-wide association studies have reported independent associations between seven single nucleotide polymorphisms (SNPs) and risk of glioma. The aim of this study was to investigate whether glioma cases with a positive family history of brain tumours, defined as having at least one first- or second-degree relative with a history of brain tumour, are associated with known glioma risk loci. One thousand four hundred and thirty-one glioma cases and 2,868 cancer-free controls were identified from four case-control studies and two prospective cohorts from USA, Sweden and Denmark and genotyped for seven SNPs previously reported to be associated with glioma risk in case-control designed studies. Odds ratios were calculated by unconditional logistic regression. In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). After Bonferroni correction for multiple comparisons, only one marker was statistically significantly associated with glioma risk, rs6010620 (ORtrend for the minor (A) allele, 0.39; 95% CI: 0.25-0.61; Bonferroni adjusted ptrend , 1.7 × 10(-4) ). In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours. These findings require confirmation in further studies with a larger number of glioma cases with a family history of brain tumours. Copyright © 2012 UICC.

  7. Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study.

    Science.gov (United States)

    Button, Le; Peter, Beate; Stoel-Gammon, Carol; Raskind, Wendy H

    2013-03-01

    The purpose of this study was to address the hypothesis that childhood apraxia of speech (CAS) is influenced by an underlying deficit in sequential processing that is also expressed in other modalities. In a sample of 21 adults from five multigenerational families, 11 with histories of various familial speech sound disorders, 3 biologically related adults from a family with familial CAS showed motor sequencing deficits in an alternating motor speech task. Compared with the other adults, these three participants showed deficits in tasks requiring high loads of sequential processing, including nonword imitation, nonword reading and spelling. Qualitative error analyses in real word and nonword imitations revealed group differences in phoneme sequencing errors. Motor sequencing ability was correlated with phoneme sequencing errors during real word and nonword imitation, reading and spelling. Correlations were characterized by extremely high scores in one family and extremely low scores in another. Results are consistent with a central deficit in sequential processing in CAS of familial origin.

  8. Joint Effect of Childhood Abuse and Family History of Major Depressive Disorder on Rates of PTSD in People with Personality Disorders

    Directory of Open Access Journals (Sweden)

    Janine D. Flory

    2012-01-01

    Full Text Available Objective. Childhood maltreatment and familial psychopathology both lead to an increased risk of the development of posttraumatic stress disorder (PTSD in adulthood. While family history of psychopathology has traditionally been viewed as a proxy for genetic predisposition, such pathology can also contribute to a stress-laden environment for the child. Method. Analyses were conducted to evaluate the joint effect of childhood abuse and a family history of major depressive disorder (MDD on diagnoses of PTSD and MDD in a sample of 225 adults with DSM-IV Axis II disorders. Results. Results showed that the rate of PTSD in the presence of both childhood abuse and MDD family history was almost six-fold (OR=5.89,  P=.001 higher relative to the absence of both factors. In contrast, the rate of MDD in the presence of both factors was associated with a nearly three-fold risk relative to the reference group (OR=2.75,  P=.01. Conclusions. The results from this observational study contribute to a growing understanding of predisposing factors for the development of PTSD and suggest that joint effects of family history of MDD and childhood abuse on PTSD are greater than either factor alone.

  9. The junctional epithelium originates from the odontogenic epithelium of an erupted tooth.

    Science.gov (United States)

    Yajima-Himuro, Sara; Oshima, Masamitsu; Yamamoto, Gou; Ogawa, Miho; Furuya, Madoka; Tanaka, Junichi; Nishii, Kousuke; Mishima, Kenji; Tachikawa, Tetsuhiko; Tsuji, Takashi; Yamamoto, Matsuo

    2014-05-02

    The junctional epithelium (JE) is an epithelial component that is directly attached to the tooth surface and has a protective function against periodontal diseases. In this study, we determined the origin of the JE using a bioengineered tooth technique. We transplanted the bioengineered tooth germ into the alveolar bone with an epithelial component that expressed green fluorescence protein. The reduced enamel epithelium from the bioengineered tooth fused with the oral epithelium, and the JE was apparently formed around the bioengineered tooth 50 days after transplantation. Importantly, the JE exhibited green fluorescence for at least 140 days after transplantation, suggesting that the JE was not replaced by oral epithelium. Therefore, our results demonstrated that the origin of the JE was the odontogenic epithelium, and odontogenic epithelium-derived JE was maintained for a relatively long period.

  10. Neuropsychological Performance and Family History in Children at Age 7 who Develop Adult Schizophrenia or Bipolar Psychosis in the New England Family Studies

    Science.gov (United States)

    Seidman, Larry J.; Cherkerzian, Sara; Goldstein, Jill M.; Agnew-Blais, Jessica; Tsuang, Ming T.; Buka, Stephen L.

    2013-01-01

    Objective Persons developing schizophrenia (SCZ) manifest various premorbid neuropsychological deficits, studied most often by measures of IQ. Far less is known about premorbid neuropsychological functioning in individuals who later develop bipolar psychoses (BP). We evaluated the specificity and impact of family history (FH) of psychosis on premorbid neuropsychological functioning. Methods We conducted a nested case-control study investigating the associations of neuropsychological data systematically collected at age 7 years for 99 adults with psychotic diagnoses (including 45 SCZ and 35 BP) and 101 controls, drawn from the New England cohort of the Collaborative Perinatal Project. A mixed model approach evaluated Full Scale IQ, four neuropsychological factors derived from principal components analysis, and the profile of 10 intelligence and achievement tests, controlling for maternal education, race, and intrafamilial correlation. We used a deviant responder approach (neuropsychologically impaired. Presence of psychosis in first-degree relatives (FH+) significantly increased the severity of childhood impairment for SCZ but not for BP. Conclusions Premorbid neuropsychological deficits are found in a substantial proportion of children who later develop SCZ, especially in the SCZ FH+ subgroup, but less so in BP, suggesting especially impaired neurodevelopment underlying cognition in pre-SCZ children. Future work should assess genetic and environmental factors that explain this FH effect. PMID:22575089

  11. Permeability and ultrastructure of human bladder epithelium

    DEFF Research Database (Denmark)

    Eldrup, J; Thorup, Jørgen Mogens; Nielsen, S L

    1983-01-01

    Leakage of tight junctions as observed with electron microscopy and demonstration of solute transport across bladder epithelium was investigated in 13 patients with different bladder diseases: urinary retention and infection, bladder tumours and interstitial cystitis. The latter group showed...

  12. Transport across the choroid plexus epithelium

    DEFF Research Database (Denmark)

    Praetorius, Jeppe; Damkier, Helle Hasager

    2017-01-01

    The choroid plexus epithelium is a secretory epithelium par excellence. However, this is perhaps not the most prominent reason for the massive interest in this modest-sized tissue residing inside the brain ventricles. Most likely, the dominant reason for extensive studies of the choroid plexus...... is the identification of this epithelium as the source of the majority of intraventricular cerebrospinal fluid. This finding has direct relevance for studies of diseases and conditions with deranged central fluid volume or ionic balance. While the concept is supported by the vast majority of the literature......, the implication of the choroid plexus in secretion of the cerebrospinal fluid was recently challenged once again. Three newer and promising areas of current choroid plexus-related investigations are as follows: 1) the choroid plexus epithelium as the source of mediators necessary for central nervous system...

  13. Intestinal epithelium in inflammatory bowel disease

    DEFF Research Database (Denmark)

    Coskun, Mehmet

    2014-01-01

    The intestinal epithelium has a strategic position as a protective physical barrier to luminal microbiota and actively contributes to the mucosal immune system. This barrier is mainly formed by a monolayer of specialized intestinal epithelial cells (IECs) that are crucial in maintaining intestinal...... of inflammatory bowel disease (IBD). Understanding the role of the intestinal epithelium in IBD pathogenesis might contribute to an improved knowledge of the inflammatory processes and the identification of potential therapeutic targets....

  14. Two different BRCA2 mutations found in a multigenerational family with a history of breast, prostate, and lung cancers

    Directory of Open Access Journals (Sweden)

    Caporale DA

    2014-06-01

    Full Text Available Diane A Caporale, Erica E SwensonDepartment of Biology, University of Wisconsin – Stevens Point, Stevens Point, WI, USAAbstract: Breast and lung cancer are two of the most common malignancies in the United States, causing approximately 40,000 and 160,000 deaths each year, respectively. Over 80% of hereditary breast cancer cases are due to mutations in two breast cancer predisposition genes, BRCA1 and BRCA2. These are tumor-suppressor genes associated with DNA repair. Since the discovery of these two genes in the mid-1990s, several other breast cancer predisposition genes have been identified, such as the CHEK2 gene encoding a regulator of BRCA1. Recently, studies have begun investigating the roles of BRCA1 and BRCA2 gene expression in lung cancer. We conducted a family-based case study that included a bloodline of Italian heritage with several cases of breast cancer and associated cancers (prostate and stomach through multiple generations and on a nonblood relative of Scottish/Irish descent who was consecutively diagnosed with breast and lung cancer. Cancer history and environmental risk factors were recorded for each family member. To investigate possible genetic risks, we screened for mutations in specific hypervariable regions of the BRCA1, BRCA2, and CHEK2 genes. DNA was extracted and isolated from the individuals' hair follicles and cheek cells. Polymerase chain reaction (PCR, allele-specific PCR, and DNA sequencing were performed to identify and verify the presence or absence of mutations in these regions. Genotypes of several family members were determined and carriers of mutations were identified. Here we report for the first time the occurrence of two different BRCA2 frameshift mutations within the same family. Specifically, three Italian family members were found to be carriers of the BRCA2-c.2808_2811delACAA (3036delACAA mutation, a 4-nucleotide deletion in exon 11, which is a truncated mutation that causes deleterious function of

  15. Family history of education predicts eating disorders across multiple generations among 2 million Swedish males and females.

    Directory of Open Access Journals (Sweden)

    Anna Goodman

    Full Text Available To investigate which facets of parent and grandparent socio-economic position (SEP are associated with eating disorders (ED, and how this varies by ED subtype and over time.Total-population cohort study of 1,040,165 females and 1,098,188 males born 1973-1998 in Sweden, and followed for inpatient or outpatient ED diagnoses until 2010. Proportional hazards models estimated associations with parental education, income and social class, and with grandparental education and income.15,747 females and 1051 males in our sample received an ED diagnosis, with rates increasing in both sexes over time. ED incidence in females was independently predicted by greater educational level among the father, mother and maternal grandparents, but parent social class and parental income showed little or no independent effect. The associations with education were equally strong for anorexia nervosa, bulimia nervosa and ED not-otherwise-specified, and had increased over time. Among males, an apparently similar pattern was seen with respect to anorexia nervosa, but non-anorexia ED showed no association with parental education and an inverse association with parental income.Family history of education predicts ED in gender- and disorder-specific ways, and in females the effect is observed across multiple generations. Particularly given that these effects may have grown stronger in more recent cohorts, these findings highlight the need for further research to clarify the underlying mechanisms and identify promising targets for prevention. Speculatively, one such mechanism may involve greater internal and external demands for academic success in highly educated families.

  16. Neuropsychology of the Prodrome to Psychosis in the NAPLS Consortium: Relationship to Family History and Conversion to Psychosis

    Science.gov (United States)

    Seidman, Larry J.; Giuliano, Anthony J.; Meyer, Eric C.; Addington, Jean; Cadenhead, Kristin S.; Cannon, Tyrone D.; McGlashan, Thomas H.; Perkins, Diana O.; Tsuang, Ming T.; Walker, Elaine F.; Woods, Scott W.; Bearden, Carrie E.; Christensen, Bruce K.; Hawkins, Keith; Heaton, Robert; Keefe, Richard S. E.; Heinssen, Robert; Cornblatt, Barbara A.

    2011-01-01

    Context Early detection and prospective evaluation of clinical high-risk (CHR) individuals who may develop schizophrenia or other psychotic disorders is critical for predicting psychosis onset and for testing preventive interventions. Objective To elucidate the neuropsychology of the CHR syndrome, to determine the association of neuropsychological function with conversion to psychosis and family history (FH) of psychosis, and to examine whether baseline neuropsychological functioning predicts subsequent psychosis. Design, Setting, and Participants Longitudinal study with 2 1/2 years follow-up of 304 prospectively identified CHR individuals meeting Structured Interview for Prodromal Syndromes (SIPS) criteria, 52 non-CHR persons with a FH of psychosis in first- or second-degree relatives (“family HR”/FHR), and 193 normal controls with neither a FH of psychosis nor a CHR syndrome, all of whom had baseline neuropsychological evaluations, recruited across eight centers as part of the North American Prodrome Longitudinal Study (NAPLS). Main Measures A neurocognitive composite score, eight individual neuropsychological measures, an IQ estimate, and HR status. Results Global (“composite”) neuropsychological functioning was comparably impaired in CHR and FHR groups compared to controls, but profiles differed significantly between groups. Neuropsychological functioning in the CHR group was significantly lower in persons who progressed to psychosis than in those who did not, and worst in the subgroup with a FH of psychosis. Tests of processing speed and verbal learning and memory were most sensitive in discriminating CHR from controls, although reductions were less severe than in established schizophrenia. Neuropsychological functioning did not contribute uniquely to the prediction of psychosis beyond clinical criteria, but worse verbal memory predicted more rapid conversion. Conclusion These findings document that CHR individuals have significant neuropsychological

  17. Family history of education predicts eating disorders across multiple generations among 2 million Swedish males and females.

    Science.gov (United States)

    Goodman, Anna; Heshmati, Amy; Koupil, Ilona

    2014-01-01

    To investigate which facets of parent and grandparent socio-economic position (SEP) are associated with eating disorders (ED), and how this varies by ED subtype and over time. Total-population cohort study of 1,040,165 females and 1,098,188 males born 1973-1998 in Sweden, and followed for inpatient or outpatient ED diagnoses until 2010. Proportional hazards models estimated associations with parental education, income and social class, and with grandparental education and income. 15,747 females and 1051 males in our sample received an ED diagnosis, with rates increasing in both sexes over time. ED incidence in females was independently predicted by greater educational level among the father, mother and maternal grandparents, but parent social class and parental income showed little or no independent effect. The associations with education were equally strong for anorexia nervosa, bulimia nervosa and ED not-otherwise-specified, and had increased over time. Among males, an apparently similar pattern was seen with respect to anorexia nervosa, but non-anorexia ED showed no association with parental education and an inverse association with parental income. Family history of education predicts ED in gender- and disorder-specific ways, and in females the effect is observed across multiple generations. Particularly given that these effects may have grown stronger in more recent cohorts, these findings highlight the need for further research to clarify the underlying mechanisms and identify promising targets for prevention. Speculatively, one such mechanism may involve greater internal and external demands for academic success in highly educated families.

  18. Influence of family history of dementia in the development and progression of late-onset Alzheimer's disease.

    Science.gov (United States)

    Scarabino, Daniela; Gambina, Giuseppe; Broggio, Elisabetta; Pelliccia, Franca; Corbo, Rosa Maria

    2016-03-01

    Family history of dementia (FH) is a recognized risk factor for developing late-onset Alzheimer's disease (AD). We asked whether having FH increases AD risk and influences disease severity (age at onset and cognitive impairment) in 420 AD patients and 109 controls with (FH+) or without (FH-). The relationships of APOE and other AD risk genes with FH were analyzed as well. The proportion of APOE e4 allele carriers was higher among the FH+ than the FH- AD patients (49.6% vs. 38.9%; P = 0.04). The distribution of the risk genotypes of nine AD susceptibility genes previously examined (CHAT, CYP17, CYP19, ESR1, FSHR, P53, P73, P21, PPARG) did not differ between the FH+ and the FH- AD patients, indicating that none contributed significantly to familial clustering of disease. FH was associated with an increased AD risk (odds ratio [OR] 2.71, 95% confidence interval [CI] 1.44-5.09; P = 0.002) independent of carrying the APOE e4 allele (OR 2.61, 95%CI 1.53-4.44; P = 0.0004). Having a first-degree relative or a parent with dementia was significantly associated with AD risk (OR 2.9, 95%CI 1.3-6.4; P = 0.009 and OR 2.7, 95%CI 1.1-6.2; P = 0.02) but having a sibling with dementia was not (OR 1.7, 95%CI 0.2 to 14.7; P = 0.6). Among the FH+ AD patients, having one or both parents affected seemed to raise the risk of earlier onset age (P = 0.02) and greater cognitive impairment (P = 0.02) than having only an affected sibling, whereas having two or more affected relatives did not. © 2015 Wiley Periodicals, Inc.

  19. The influence of family history of cancer, irradiation and anticancer medication (mitomycin C), on the occurrence of multiple primary neoplasms with breast cancer

    International Nuclear Information System (INIS)

    Yoshimoto, Masataka; Kasumi, Fujio; Fukami, Atsuo; Nishi, Mitsumasa; Kajitani, Tamaki; Sakamoto, Goi

    1985-01-01

    The influence of family history of cancer, radiation therapy and anticancer drug therapy (mitomycin C) on the occurrence of multiple primary neoplasms, following treatment of a first primary cancer of the breast, was analyzed by the person-year method in 1,359 patients, in Japan. During 14,371.8 person-years of observation, 111 multiple primary neoplasms including bilateral breast cancers were found in 109 patients. The incidence rate of multiple primary neoplasms were 0.00772 per person-year. The incidence in patients with a family history of cancer was 1.29 times greater than that in patients without such a family history, and the incidence in patients with a family history of breast cancer was about three times greater than that in those without it (p < 0.01). Radiation therapy raised the occurrence of subsequent primary neoplasms 1.28-fold (or 1.62 fold after 5 years), and mitomycin C (a total dose of 0.8 mg/kg) therapy caused no increase in the occurrence of subsequent primary cancers, after an observation of 10 years or so. (author)

  20. Impact of family history of alcoholism on glutamine/glutamate ratio in anterior cingulate cortex in substance-naïve adolescents.

    Science.gov (United States)

    Cohen-Gilbert, Julia E; Sneider, Jennifer T; Crowley, David J; Rosso, Isabelle M; Jensen, J Eric; Silveri, Marisa M

    2015-12-01

    Neuroimaging studies of individuals with family histories of alcoholism provide evidence suggesting neurobiological risk factors for alcoholism. Youth family history positive (FH+) for alcoholism exhibit increased impulsivity compared to family history negative (FH-) peers in conjunction with altered functional activation in prefrontal cortex, including anterior cingulate cortex (ACC). This study examined glutamate (Glu) and glutamine (Gln), amino acids vital to protein synthesis, cellular metabolism and neurotransmission, acquired from ACC and parieto-occipital cortex (POC) using magnetic resonance spectroscopy (MRS) at 4T. Participants were 28 adolescents (13 male, 12-14 yrs) and 31 emerging adults (16 male, 18-25 yrs), stratified into FH- and FH+ groups. Significantly higher ACC Gln/Glu was observed in emerging adults versus adolescents in FH- but not FH+ groups. In FH- adolescents, higher impulsivity was significantly associated with higher ACC Gln/Glu. In FH+ emerging adults, higher impulsivity was negatively associated with ACC Gln/Glu. No differences or associations were observed for POC. These findings provide preliminary evidence that family history of alcoholism is associated with a neurochemical profile that may influence normative age differences in glutamatergic metabolites and their association with impulse control, which together could confer greater genetic risk of addiction later in life. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  1. Familial History of Reading Difficulty Is Associated with Diffused Bilateral Brain Activation during Reading and Greater Association with Visual Attention Abilities

    Science.gov (United States)

    Horowitz-Kraus, Tzipi

    2017-01-01

    Reading difficulty (RD; or dyslexia) is a heritable condition characterized by slow, inaccurate reading accompanied by executive dysfunction, specifically with respect to visual attention. The current study was designed to examine the effect of familial history of RD on the relationship between reading and visual attention abilities in children…

  2. Role of adiposity and lifestyle in the relationship between family history of diabetes and 20-year incidence of type 2 diabetes in US women

    NARCIS (Netherlands)

    van 't Riet, E.; Dekker, J.M.; Sun, Q.; Nijpels, G.; Hu, F.B.; van Dam, R.M.

    2010-01-01

    OBJECTIVE - To evaluate to what extent the association between family history of diabetes and risk of type 2 diabetes can be explained by excess adiposity and lifestyle risk factors. RESEARCH DESIGN AND METHODS - We analyzed data from 73,227 women who participated in the Nurses' Health Study cohort.

  3. Does family history of cancer modify the effects of lifestyle risk factors on esophageal cancer? A population-based case-control study in China

    NARCIS (Netherlands)

    Wu, M.; Zhang, Z.F.; Kampman, E.; Zhou, J.Y.; Han, R.Q.; Yang, J.; Zhang, X.F.; Gu, X.P.; Liu, A.M.; Veer, P. van 't; Kok, F.J.; Zhao, J.K.

    2011-01-01

    A population-based case-control study on esophageal cancer has been conducted since 2003 in Jiangsu Province, China. The aim of this analysis is to provide further evidence on the relationship between family history of cancer in first-degree relatives (FH-FDRs) and the risk of esophageal cancer, and

  4. Does family history of cancer modify the effects of lifestyle risk factors on esophageal cancer? a population-based case-control study in China

    NARCIS (Netherlands)

    Ming, W.; Zhang, Z.F.; Kampman, E.; Zhou, Y.I.; Han, R.Q.; Yang, J.; Zhang, X.F.; Gu, X.P.; Liu, Ai-Min; Veer, van 't P.; Kok, F.J.; Zhao, J.K.

    2011-01-01

    A population-based case–control study on esophageal cancer has been conducted since 2003 in Jiangsu Province, China. The aim of this analysis is to provide further evidence on the relationship between family history of cancer in first-degree relatives (FH-FDRs) and the risk of esophageal cancer, and

  5. Perceived risk, anxiety, mammogram uptake and breast self examination of women with a family history of breast cancer: The role of knowing to be at increased risk

    NARCIS (Netherlands)

    Drossaert, Constance H.C.; Boer, Hendrik; Seydel, E.R.

    1996-01-01

    Since women with a first-degree relative with breast cancer are at increased risk for breast cancer, it is of special importance that they adhere to early detection programs. In this study, women with (389) and without (3295) a family history of breast cancer were compared with respect to risk

  6. Effect of a family history of psoriasis and age on comorbidities and quality of life in patients with moderate to severe psoriasis: Results from the ARIZONA study.

    Science.gov (United States)

    López-Estebaranz, Jose Luis; Sánchez-Carazo, Jose Luis; Sulleiro, Sara

    2016-04-01

    Psoriasis is a chronic inflammatory skin disease whose clinical characteristics vary from patient to patient. We aimed to analyze how comorbidities and quality of life (QoL, as per the Dermatology Life Quality Index [DLQI]) may be affected by a family history of psoriasis and by age. The ARIZONA study was a multicenter, cross-sectional study in 1022 adult patients diagnosed with moderate to severe psoriasis at least 6 months prior to inclusion. The severity of psoriasis and the proportion of patients with comorbidities were not affected by the presence of a family history. The regression analysis revealed that the presence of a family history of psoriasis was associated with the effect on the patient's QoL (P = 0.002), regardless of disease severity. The mean DLQI total score varied significantly across age groups (5.1 ± 5.3 for the 18-30-year group, 5.7 ± 6.5 for the 31-60-year group and 3.8 ± 5.1 for the >60-year group; P = 0.001). In conclusion, the presence of a family history of psoriasis appears to disrupt QoL in patients with moderate to severe psoriasis, but it hardly affected the prevalence of comorbid conditions. The effect of age on QoL was particularly noticeable in younger patients, highlighting its negative impact. As expected, older patients appeared to be burdened with a higher number of comorbidities than their younger counterparts. © 2015 Japanese Dermatological Association.

  7. A Growth Curve Analysis of the Course of Dysthymic Disorder: The Effects of Chronic Stress and Moderation by Adverse Parent-Child Relationships and Family History

    Science.gov (United States)

    Dougherty, Lea R.; Klein, Daniel N.; Davila, Joanne

    2004-01-01

    Using mixed effects models, the authors examined the effects of chronic stress, adverse parent-child relationships, and family history on the 7.5-year course of dysthymic disorder. Participants included 97 outpatients with early-onset dysthymia who were assessed with semistructured interviews at baseline and 3 additional times at 30-month…

  8. Increased mortality exposure within the family rather than individual mortality experiences triggers faster life-history strategies in historic human populations

    NARCIS (Netherlands)

    Störmer, Charlotte; Lummaa, Virpi

    2014-01-01

    impact of family versus individual-level effects of mortality exposure on two central life-history parameters, ages at first marriage and first birth, in three historical human populations (Germany, Finland, Canada). Mortality experience is measured as the confrontation with sibling deaths within

  9. BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

    Directory of Open Access Journals (Sweden)

    Gaik Theng Toh

    Full Text Available BACKGROUND: In Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised. METHODOLOGY: Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease (family history. Mutational analysis of BRCA1 and BRCA2 was conducted by full sequencing of all exons and intron-exon junctions. CONCLUSIONS: Here, we report a total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel (3 BRCA1 and 5 BRCA2. One deleterious BRCA1 mutation and 2 deleterious BRCA2 mutations, all of which are novel mutations, were identified in 3 of 37 individuals. This represents a prevalence of 2.7% and 5.4% respectively, which is consistent with other studies in other Asian ethnic groups (4-9%.

  10. Asthma and atopy in children born by caesarean section: effect modification by family history of allergies - a population based cross-sectional study.

    Science.gov (United States)

    Kolokotroni, Ourania; Middleton, Nicos; Gavatha, Marina; Lamnisos, Demetris; Priftis, Kostas N; Yiallouros, Panayiotis K

    2012-11-16

    Studies on the association of birth by caesarean section (C/S) and allergies have produced conflicting findings. Furthermore, evidence on whether this association may differ in those at risk of atopy is limited. This study aims to investigate the association of mode of delivery with asthma and atopic sensitization and the extent to which any effect is modified by family history of allergies. Asthma outcomes were assessed cross-sectionally in 2216 children at age 8 on the basis of parents' responses to the ISAAC questionnaire whilst skin prick tests to eleven aeroallergens were also performed in a subgroup of 746 children. Adjusted odds ratios of asthma and atopy by mode of delivery were estimated in multivariable logistic models while evidence of effect modification was examined by introducing interaction terms in the models. After adjusting for potential confounders, children born by C/S appeared significantly more likely than those born vaginally to report ever wheezing (OR 1.36, 95% CI 1.07-1.71), asthma diagnosis (OR 1.41, 95% CI 1.09-1.83) and be atopic (OR 1.67, 95% CI 1.08-2.60). There was modest evidence that family history of allergies may modify the effect of C/S delivery on atopy (p for effect modification=0.06) but this was not the case for the asthma outcomes. Specifically, while more than a two-fold increase in the odds of being a topic was observed in children with a family history of allergies if born by C/S (OR 2.62, 95% CI 1.38-5.00), no association was observed in children without a family history of allergies (OR 1.16, 95% CI 0.64-2.11). Birth by C/S is associated with asthma and atopic sensitization in childhood. The association of C/S and atopy appears more pronounced in children with family history of allergies.

  11. Family history of autoimmune diseases is associated with an increased risk of autism in children: A systematic review and meta-analysis.

    Science.gov (United States)

    Wu, Shunquan; Ding, Yingying; Wu, Fuquan; Li, Ruisheng; Xie, Guoming; Hou, Jun; Mao, Panyong

    2015-08-01

    We conducted a systematic review and meta-analysis to summarize the current evidence on the relationship between family history of autoimmune diseases (ADs) and risk of autism in children, as current evidence suggests inconsistent results. We identified relevant studies by searching PubMed, EmBase, and Web of Science databases up to Dec 2014. Risk estimates from individual studies were pooled using random-effects models. Sub-groups analyses were conducted by some study-level factors. Publication bias was assessed by funnel plots, Egger's regression test and Begg-Mazumdar test. A total of 11 articles were included in the meta-analysis, including 3 cohort studies, 6 case-control studies, and 2 cross-sectional studies. The meta-analysis showed that family history of all ADs combined was associated with a 28% (95% CI: 12-48%) higher risk of autism in children. For some specific ADs, evidence synthesis for risk of autism in children showed a statistically significant association with family history of hypothyroidism (OR=1.64, 95% CI: 1.07-2.50), type 1 diabetes (OR=1.49, 95% CI: 1.23-1.81), rheumatoid arthritis (OR=1.51, 95% CI: 1.19-1.91), and psoriasis (OR=1.59, 95% CI: 1.28-1.97). The results varied in some subgroups. An overall increased risk of autism in children with family history of ADs was identified. More mechanistic studies are needed to further explain the association between family history of ADs and increased risk of autism in children. Copyright © 2015. Published by Elsevier Ltd.

  12. Risk of pancreatic cancer associated with family history of cancer and other medical conditions by accounting for smoking among relatives.

    Science.gov (United States)

    Molina-Montes, E; Gomez-Rubio, P; Márquez, M; Rava, M; Löhr, M; Michalski, C W; Molero, X; Farré, A; Perea, J; Greenhalf, W; Ilzarbe, L; O'Rorke, M; Tardón, A; Gress, T; Barberà, V M; Crnogorac-Jurcevic, T; Domínguez-Muñoz, E; Muñoz-Bellvís, L; Balsells, J; Costello, E; Huang, J; Iglesias, M; Kleeff, J; Kong, Bo; Mora, J; Murray, L; O'Driscoll, D; Poves, I; Scarpa, A; Ye, W; Hidalgo, M; Sharp, L; Carrato, A; Real, F X; Malats, N

    2018-04-01

    Family history (FH) of pancreatic cancer (PC) has been associated with an increased risk of PC, but little is known regarding the role of inherited/environmental factors or that of FH of other comorbidities in PC risk. We aimed to address these issues using multiple methodological approaches. Case-control study including 1431 PC cases and 1090 controls and a reconstructed-cohort study (N = 16 747) made up of their first-degree relatives (FDR). Logistic regression was used to evaluate PC risk associated with FH of cancer, diabetes, allergies, asthma, cystic fibrosis and chronic pancreatitis by relative type and number of affected relatives, by smoking status and other potential effect modifiers, and by tumour stage and location. Familial aggregation of cancer was assessed within the cohort using Cox proportional hazard regression. FH of PC was associated with an increased PC risk [odds ratio (OR) = 2.68; 95% confidence interval (CI): 2.27-4.06] when compared with cancer-free FH, the risk being greater when ≥ 2 FDRs suffered PC (OR = 3.88; 95% CI: 2.96-9.73) and among current smokers (OR = 3.16; 95% CI: 2.56-5.78, interaction FHPC*smoking P-value = 0.04). PC cumulative risk by age 75 was 2.2% among FDRs of cases and 0.7% in those of controls [hazard ratio (HR) = 2.42; 95% CI: 2.16-2.71]. PC risk was significantly associated with FH of cancer (OR = 1.30; 95% CI: 1.13-1.54) and diabetes (OR = 1.24; 95% CI: 1.01-1.52), but not with FH of other diseases. The concordant findings using both approaches strengthen the notion that FH of cancer, PC or diabetes confers a higher PC risk. Smoking notably increases PC risk associated with FH of PC. Further evaluation of these associations should be undertaken to guide PC prevention strategies.

  13. Does fear of childbirth or family history affect whether pregnant Dutch women prefer a home- or hospital birth?

    Science.gov (United States)

    Sluijs, Anne-Marie; Cleiren, Marc P H D; Scherjon, Sicco A; Wijma, Klaas

    2015-12-01

    It is a generally accepted idea that women who give birth at home are less fearful of giving birth than women who give birth in a hospital. We explored fear of childbirth (FOC) in relation to preferred and actual place of birth. Since the Netherlands has a long history of home birthing, we also examined how the place where a pregnant woman׳s mother or sisters gave birth related to the preferred place of birth. A prospective cohort study. Five midwifery practises in the region Leiden/Haarlem, the Netherlands. 104 low risk nulliparous and parous women. Questionnaires were completed in gestation week 30 (T1) and six weeks post partum (T2). No significant differences were found in antepartum FOC between those who preferred a home or a hospital birth. Women with a strong preference for either home or hospital had lower FOC (mean W-DEQ=60.3) than those with a weak preference (mean W-DEQ=71.0), t (102)=-2.60, p=0.01. The place of birth of close family members predicted a higher chance (OR 3.8) of the same place being preferred by the pregnant woman. Pre- to postpartum FOC increased in women preferring home- but having hospital birth. The idea that FOC is related to the choice of place of birth was not true for this low risk cohort. Women in both preference groups (home and hospital) made their decisions based on negative and positive motivations. Mentally adjusting to a different environment than that preferred, apart from the medical complications, can cause more FOC post partum. The decreasing number of home births in the Netherlands will probably be a self-reinforcing effect, so in future, pregnant women will be less likely to feel supported by their family or society to give birth at home. Special attention should be given to the psychological condition of women who were referred to a place of birth and caregiver they did not prefer, by means of evaluation of the delivery and being alert to anxiety or other stress symptoms after childbirth. These women have higher

  14. Evaluation of mammographic surveillance services in women aged 40-49 years with a moderate family history of breast cancer: a single-arm cohort study.

    Science.gov (United States)

    Duffy, S W; Mackay, J; Thomas, S; Anderson, E; Chen, T H H; Ellis, I; Evans, G; Fielder, H; Fox, R; Gui, G; Macmillan, D; Moss, S; Rogers, C; Sibbering, M; Wallis, M; Warren, R; Watson, E; Whynes, D; Allgood, P; Caunt, J

    2013-03-01

    Women with a significant family history of breast cancer are often offered more intensive and earlier surveillance than is offered to the general population in the National Breast Screening Programme. Up to now, this strategy has not been fully evaluated. To evaluate the benefit of mammographic surveillance for women aged 40-49 years at moderate risk of breast cancer due to family history. The study is referred to as FH01. This was a single-arm cohort study with recruitment taking place between January 2003 and February 2007. Recruits were women aged women were offered annual mammography for at least 5 years and observed for the occurrence of breast cancer during the surveillance period. The age group 40-44 years was targeted so that they would still be aged women, 94% of whom were aged women aged 40-49 years with a significant family history of breast or ovarian cancer is both clinically effective in reducing breast cancer mortality and cost-effective. There is a need to further standardise familial risk assessment, to research the impact of digital mammography and to clarify the role of breast density in this population. National Research Register N0484114809. This project was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 17, No. 11. See the HTA programme website for further project information.

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

    Science.gov (United States)

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

    1999-02-01

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

  16. Relation of coronary vasoreactivity and coronary calcification in asymptomatic subjects with a family history of premature coronary artery disease

    International Nuclear Information System (INIS)

    Pirich, Christian; Leber, Alexander; Knez, Andreas; Bengel, Frank M.; Nekolla, Stephan G.; Schwaiger, Markus; Haberl, Ralph

    2004-01-01

    Electron-beam computed tomography (EBCT) allows non-invasive imaging of coronary calcification and has been promoted as a screening tool for coronary artery disease (CAD) in asymptomatic high-risk subjects. This study assessed the relation of coronary calcifications to alterations in coronary vascular reactivity by means of positron emission tomography (PET) in asymptomatic subjects with a familial history of premature CAD. Twenty-one subjects (mean age 51±10 years) underwent EBCT imaging for coronary calcifications expressed as the coronary calcium score (CCS according to Agatston) and rest/adenosine-stress nitrogen-13 ammonia PET with quantification of myocardial blood flow (MBF) and coronary flow reserve (CFR). The mean CCS was 237±256 (median 146, range 0-915). The CCS was 100 units in 13. As defined by age-related thresholds, 15 subjects had an increased CCS (>75th percentile). Overall mean resting and stress MBF and CFR were 71±16 ml 100 g -1 min -1 , 218±54 ml 100 g -1 min -1 and 3.20±0.77, respectively. Three subjects with CCS ranging from 114 to 451 units had an abnormal CFR (<2.5). There was no relation between CCS and resting or stress MBF or CFR (r=0.17, 0.18 and 0.10, respectively). In asymptomatic subjects a pathological CCS was five times more prevalent than an abnormal CFR. The absence of any close relationship between CCS and CFR reflects the fact that quantitative myocardial perfusion imaging with PET characterises the dynamic process of vascular reactivity while EBCT is a measure of more stable calcified lesions in the arterial wall whose presence is closely related to age. (orig.)

  17. A Family History of Diabetes Modifies the Association between Elevated Urine Albumin Concentration and Hyperglycemia in Nondiabetic Mexican Adolescents

    Directory of Open Access Journals (Sweden)

    Aida Jiménez-Corona

    2015-01-01

    Full Text Available We examined the frequency of elevated urine albumin concentration (UAC and its association with metabolic syndrome (MetS and metabolic markers in 515 nondiabetic Mexican adolescents stratified by family history of diabetes (FHD. UAC was measured in a first morning urine sample and considered elevated when excretion was ≥20 mg/mL. MetS was defined using International Diabetes Federation criteria. Fasting insulin, insulin resistance, and lipids were evaluated. Multivariate logistic regression was performed. Elevated UAC was present in 12.4% and MetS was present in 8.9% of the adolescents. No association was found between elevated UAC and MetS. Among adolescents with FHD, 18.4% were overweight and 20.7% were obese, whereas, among those without a FHD, 15.9% were overweight and 7.5% were obese. Hyperglycemia was higher in those with elevated UAC than in those without (44.4% versus 5.1%, p=0.003. Hyperglycemia (OR = 9.8, 95% CI 1.6–59.4 and number of MetS components (OR = 4.5, 95% CI 1.5–13.3 were independently associated with elevated UAC. Among female participants, abdominal obesity was associated with elevated UAC (OR = 4.5, 95% CI 1.2–16.9. Conclusion. Elevated UAC was associated neither with MetS nor with any metabolic markers in nondiabetic adolescents. However, FHD modified the association of elevated UAC with hyperglycemia and the number of MetS components.

  18. Dietary patterns and associated lifestyles in individuals with and without familial history of obesity: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Vohl Marie-Claude

    2006-10-01

    Full Text Available Abstract Background Familial history of obesity (FHO and certain dietary habits are risk factors for obesity. The objectives of this cross-sectional study were 1 to derive dietary patterns using factor analysis in a population of men and women with and without FHO; 2 to compare mean factor scores for each dietary pattern between individuals with and without FHO; and 3 to examine the association between these patterns and anthropometric, lifestyle and sociodemographic variables. Methods A total of 197 women and 129 men with a body mass index 2 were recruited. A positive FHO (FHO+ was defined as having at least one obese first-degree relative and a negative FHO (FHO- as no obese first-degree relative. Dietary data were collected from a food frequency questionnaire. Factor analysis was performed to derive dietary patterns. Mean factor scores were compared using general linear model among men and women according to FHO. Regression analyses were performed to study the relationship between anthropometric, lifestyle and sociodemographic variables, and each dietary pattern. Results Two dietary patterns were identified in both men and women : the Western pattern characterized by a higher consumption of red meats, poultry, processed meats, refined grains as well as desserts, and the Prudent pattern characterized by greater intakes of vegetables, fruits, non-hydrogenated fat, and fish and seafood. Similar Western and Prudent factor scores were observed in individual with and without FHO. In men with FHO+, the Western pattern is negatively associated with age and positively associated with physical activity, smoking, and personal income. In women with FHO-, the Prudent pattern is negatively associated with BMI and smoking and these pattern is positively associated with age and physical activity. Conclusion Two dietary patterns have been identified among men and women with and without FHO. Although that FHO does not seem to influence the adherence to dietary

  19. Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer.

    Science.gov (United States)

    Campacci, N; de Lima, J O; Ramadan, L; Palmero, E I

    2015-03-01

    Usually, the mass media do not address hereditary cancer and their risk factors, nor are these topics discussed at the community level. We used an informative guide on cancer and hereditary cancer, followed by a questionnaire on these topics to investigate the relevant knowledge among women at high risk for hereditary breast and/or colorectal cancer from a population-based cohort. The cohort was composed of 81 Brazilian women with positive family histories of breast and/or colorectal cancer. Strauss and Corbin's Grounded Theory was used for qualitative analysis. The average age of the cohort was 49.9 years old. Three participants (3.9%) were illiterate, 45 (59.2%) had attended elementary school, 14 (18.4%) had secondary school, and 14 (18.4%) held higher education degrees. A total of 47 (54.3%) volunteers were unable to fully understand the information provided in the guide because they did not know the meaning of words such as metastasis, malignant, hereditary, sporadic, or oncogenetics. Notwithstanding, the acceptance of the educational tool utilized was satisfactory, and it enhanced the volunteers' interest in a better understanding of cancer and heredity. Thereby, we concluded that the low knowledge of this important subject and the unawareness about fundamental terms required for the comprehension of this specific type of neoplasm made us believe that the use of the informative guide can provide a great value when used previously to the genetic counseling consultations. Besides, educational tools of easy understanding should be part of everyday clinical practice, from primary to specialized patient care.

  20. UNPACKING THE DIFFERENTIAL IMPACT OF FAMILY PLANNING POLICIES IN CHINA: ANALYSIS OF PARITY PROGRESSION RATIOS FROM RETROSPECTIVE BIRTH HISTORY DATA, 1971-2005.

    Science.gov (United States)

    Qin, Min; Falkingham, Jane; Padmadas, Sabu S

    2018-01-10

    Although China's family planning programme is often referred to in the singular, most notably the One-Child policy, in reality there have been a number of different policies in place simultaneously, targeted at different sub-populations characterized by region and socioeconomic conditions. This study attempted to systematically assess the differential impact of China's family planning programmes over the past 40 years. The contribution of Parity Progression Ratios to fertility change among different sub-populations exposed to various family planning policies over time was assessed. Cross-sectional birth history data from six consecutive rounds of nationally representative population and family planning surveys from the early 1970s until the mid-2000s were used, covering all geographical regions of China. Four sub-populations exposed to differential family planning regimes were identified. The analyses provide compelling evidence of the influential role of family planning policies in reducing higher Parity Progression Ratios across different sub-populations, particularly in urban China where fertility dropped to replacement level even before the implementation of the One-Child policy. The prevailing socioeconomic conditions in turn have been instrumental in adapting and accelerating family planning policy responses to reducing fertility levels across China.

  1. Expressions of TRPVs in the cholesteatoma epithelium.

    Science.gov (United States)

    Do, Ba Hung; Koizumi, Hiroki; Ohbuchi, Toyoaki; Kawaguchi, Rintaro; Suzuki, Hideaki

    2017-10-01

    We have recently proposed a hypothesis that acid leakage through the cholesteatoma epithelium mediates bone resorption in middle ear cholesteatoma. In the present study, we investigated the expressions of transient receptor potential vanilloid (TRPV) channels, which have been shown to play roles in the regulation of epidermal barrier function, in the cholesteatoma epithelium in comparison with the normal skin. Cholesteatoma epithelium and postauricular skin were collected from 17 patients with primary acquired middle ear cholesteatoma who underwent tympanomastoidectomy. Expressions of TRPV1, TRPV3, TRPV4, and TRPV6 were explored by fluorescence immunohistochemistry and quantitative reverse transcription-polymerase chain reaction (qRT-PCR). TRPV1, TRPV3, TRPV4, and TRPV6 mRNAs were all detected by qRT-PCR both in the skin and cholesteatoma tissue. Immunohistochemical staining showed that TRPV1 and TRPV3 were positive in the viable cell layers of the epidermis of the skin, and only TRPV3 was positive in those of the cholesteatoma epithelium. The immunoreactivity for TRPV3 was significantly weaker in cholesteatoma than in the skin. The lower expression of TRPV3 in cholesteatoma may be one of the mechanisms underlying the increased permeability of this tissue. On the other hand, TRPV1, TRPV4, and TRPV6 are unlikely to be involved in the regulation of epithelial permeability in cholesteatoma.

  2. Transport across the choroid plexus epithelium.

    Science.gov (United States)

    Praetorius, Jeppe; Damkier, Helle Hasager

    2017-06-01

    The choroid plexus epithelium is a secretory epithelium par excellence. However, this is perhaps not the most prominent reason for the massive interest in this modest-sized tissue residing inside the brain ventricles. Most likely, the dominant reason for extensive studies of the choroid plexus is the identification of this epithelium as the source of the majority of intraventricular cerebrospinal fluid. This finding has direct relevance for studies of diseases and conditions with deranged central fluid volume or ionic balance. While the concept is supported by the vast majority of the literature, the implication of the choroid plexus in secretion of the cerebrospinal fluid was recently challenged once again. Three newer and promising areas of current choroid plexus-related investigations are as follows: 1 ) the choroid plexus epithelium as the source of mediators necessary for central nervous system development, 2 ) the choroid plexus as a route for microorganisms and immune cells into the central nervous system, and 3 ) the choroid plexus as a potential route for drug delivery into the central nervous system, bypassing the blood-brain barrier. Thus, the purpose of this review is to highlight current active areas of research in the choroid plexus physiology and a few matters of continuous controversy. Copyright © 2017 the American Physiological Society.

  3. Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.

    Science.gov (United States)

    Watson, Kendra D; Schoch, Jennifer J; Beek, Geoffrey J; Hand, Jennifer L

    2017-03-01

    An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB. Clinicians should recognize the clinical spectrum of dystrophic EB and recommend genetic consultation when the phenotype conflicts with family history. © 2017 Wiley Periodicals, Inc.

  4. Aryl hydrocarbon receptor expression is associated with a family history of upper gastrointestinal tract cancer in a high-risk population exposed to aromatic hydrocarbons

    Energy Technology Data Exchange (ETDEWEB)

    Roth, M.J.; Wei, W.Q.; Baer, J.; Abnet, C.C.; Wang, G.Q.; Sternberg, L.R.; Warner, A.C.; Johnson, L.L.; Lu, N.; Giffen, C.A.; Dawsey, S.M.; Qiao, Y.L.; Cherry, J. [NCI, Bethesda, MD (United States)

    2009-09-15

    Polycyclic aromatic hydrocarbon (PAH) exposure is a risk factor for esophageal squamous cell carcinoma, and PAHs are ligands of the aryl hydrocarbon receptor (AhR). This study measured the expression of AhR and related genes in frozen esophageal cell samples from patients exposed to different levels of indoor air pollution, who did or did not have high-grade squamous dysplasia and who did or did not have a family history of upper gastrointestinal tract (UGI) cancer. 147 samples were evaluated, including 23 (16%) from patients with high-grade dysplasia and 48 (33%) from patients without dysplasia who heated their homes with coal, without a chimney (a 'high' indoor air pollution group), and 27 (18%) from patients with high-grade dysplasia and 49 (33%) from patients without dysplasia who did not heat their homes at all (a 'low' indoor air pollution group). Sixty-four (44%) had a family history of UGI cancer. RNA was extracted and quantitative PCR analysis was done. AhR gene expression was detectable in 85 (58%) of the samples and was >9-fold higher in those with a family history of UGI cancer (median expression (interquartile range), -1,964 (-18,000, -610) versus -18,000 (-18,000, -1036); P = 0.02, Wilcoxon rank-sum test). Heating status, dysplasia category, age, gender, and smoking were not associated with AhR expression (linear regression; all P values {ge} 0.1). AhR expression was higher in patients with a family history of UGI cancer. Such individuals may be more susceptible to the deleterious effects of PAH exposure, including PAH-induced cancer.

  5. Family history and obesity in youth, their effect on acylcarnitine/aminoacids metabolomics and non-alcoholic fatty liver disease (NAFLD). Structural equation modeling approach

    OpenAIRE

    Romero-Ibarguengoitia, Maria Elena; Vadillo-Ortega, Felipe; Caballero, Augusto Enrique; Ibarra-González, Isabel; Herrera-Rosas, Arturo; Serratos-Canales, María Fabiola; León-Hernández, Mireya; González-Chávez, Antonio; Mummidi, Srinivas; Duggirala, Ravindranath; López-Alvarenga, Juan Carlos

    2018-01-01

    Background: Structural equation modeling (SEM) can help understanding complex functional relationships among obesity, non-alcoholic fatty liver disease (NAFLD), family history of obesity, targeted metabolomics and pro-inflammatory markers. We tested two hypotheses: 1) If obesity precedes an excess of free fatty acids that increase oxidative stress and mitochondrial dysfunction, there would be an increase of serum acylcarnitines, amino acids and cytokines in obese subjects. Acylcarnitines woul...

  6. Associations of Sedentary Behavior, Sedentary Bouts and Breaks in Sedentary Time with Cardiometabolic Risk in Children with a Family History of Obesity

    OpenAIRE

    Saunders, Travis John; Tremblay, Mark Stephen; Mathieu, Marie-?ve; Henderson, M?lanie; O?Loughlin, Jennifer; Tremblay, Angelo; Chaput, Jean-Philippe

    2013-01-01

    Background Although reports in adults suggest that breaks in sedentary time are associated with reduced cardiometabolic risk, these findings have yet to be replicated in children. Purpose To investigate whether objectively measured sedentary behavior, sedentary bouts or breaks in sedentary time are independently associated with cardiometabolic risk in a cohort of Canadian children aged 8?11 years with a family history of obesity. Methods Data from 286 boys and 236 girls living in Quebec, Cana...

  7. The Relative Importance of Family History, Gender, Mode of Onset, and Age at Onsetin Predicting Clinical Features of First-Episode Psychotic Disorders.

    Science.gov (United States)

    Compton, Michael T; Berez, Chantal; Walker, Elaine F

    Family history of psychosis, gender, mode of onset, and age at onset are considered prognostic factors important to clinicians evaluating first-episode psychosis; yet, clinicians have little guidance as to how these four factors differentially predict early-course substance abuse, symptomatology, and functioning. We conducted a "head-to-head comparison" of these four factors regarding their associations with key clinical features at initial hospitalization. We also assessed potential interactions between gender and family history with regard to age at onset of psychosis and symptom severity. Consecutively admitted first-episode patients (n=334) were evaluated in two studies that rigorously assessed a number of early-course variables. Associations among variables of interest were examined using Pearson correlations, χ 2 tests, Student's t-tests, and 2×2 factorial analyses of variance. Substance (nicotine, alcohol, and cannabis) abuse and positive symptom severity were predicted only by male gender. Negative symptom severity and global functioning impairments were predicted by earlier age at onset of psychosis. General psychopathology symptom severity was predicted by both mode of onset and age at onset. Interaction effects were not observed with regard to gender and family history in predicting age at onset or symptom severity. The four prognostic features have differential associations with substance abuse, domains of symptom severity, and global functioning. Gender and age at onset of psychosis appear to be more predictive of clinical features at the time of initial evaluation (and thus presumably longer term outcomes) than the presence of a family history of psychosis and a more gradual mode of onset.

  8. Neoplasia versus hyperplasia of the retinal pigment epithelium

    DEFF Research Database (Denmark)

    Heegaard, Steffen; Larsen, J.N.B.; Fledelius, Hans C.

    2001-01-01

    ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography......ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography...

  9. The Structure of Urethral Epithelium in Merinos Lambs

    Directory of Open Access Journals (Sweden)

    Vasile RUS

    2018-05-01

    Full Text Available The aim of this study was to investigate by histological techniques the structure of urethral epithelium in lambs. In this study, we harvested several fragments (prostatic, membranous and cavernous from urethra from 5 merino’s lambs of 3 months old. The first anatomical segment, the prostatic urethra, is lined by a urinary epithelium. The intermediary layer of this epithelium is formed of 5-6 rows of oval cells. The second segment of urethra has the same type of epithelium but the intermediary layer is formed of 6-7 rows of oval cells. In the last anatomical segment, the penile urethra, the epithelium is the same, but the intermediary layer has 3-4 rows of oval cells. In lambs, the urethra is lined by urinary epithelium. The urethral epithelium does not have the same thickness in all segments. The thinner epithelium it is in the cavernous urethra, the ticker is the membranous urethra.

  10. Does a family history of pancreatic ductal adenocarcinoma and cyst size influence the follow-up strategy for intraductal papillary mucinous neoplasms of the pancreas?

    Science.gov (United States)

    Mandai, Koichiro; Uno, Koji; Yasuda, Kenjiro

    2014-08-01

    This study aimed to evaluate the relationship between pancreatic ductal adenocarcinoma (PDAC) family history and PDAC development in patients followed up for intraductal papillary mucinous neoplasms (IPMNs) and to assess the cyst size relevance in determining follow-up strategies. We analyzed 300 patients with branch duct and mixed-type IPMN who were followed up at our facility. Among the patients aged 70 years or older, the frequency of PDAC did not differ significantly between those with 1 first-degree relative with PDAC and those without a family history. Although patients with IPMNs of greater than or equal to 30 mm were followed up for a significantly shorter duration than those patients with IPMNs of less than 30 mm, the frequency of IPMN progression and malignant IPMN was significantly greater in the former. The frequency of IPMN progression and pancreatic cancer did not differ significantly according to IPMN size (family history. Special attention should be paid to IPMN progression and malignant transformation in patients with IPMNs of greater than or equal to 30 mm, but cyst size need not be considered when determining follow-up strategies for patients with IPMNs of less than 30 mm without mural nodules.

  11. Impaired fat oxidation after a single high-fat meal in insulin-sensitive nondiabetic individuals with a family history of type 2 diabetes.

    Science.gov (United States)

    Heilbronn, Leonie K; Gregersen, Søren; Shirkhedkar, Deepali; Hu, Dachun; Campbell, Lesley V

    2007-08-01

    Individuals with insulin resistance and type 2 diabetes have an impaired ability to switch appropriately between carbohydrate and fatty acid oxidation. However, whether this is a cause or consequence of insulin resistance is unclear, and the mechanism(s) involved in this response is not completely elucidated. Whole-body fat oxidation and transcriptional regulation of genes involved in lipid metabolism in skeletal muscle were measured after a prolonged fast and after consumption of either high-fat (76%) or high-carbohydrate (76%) meals in individuals with no family history of type 2 diabetes (control, n = 8) and in age- and fatness-matched individuals with a strong family history of type 2 diabetes (n = 9). Vastus lateralis muscle biopsies were performed before and 3 h after each meal. Insulin sensitivity and fasting measures of fat oxidation were not different between groups. However, subjects with a family history of type 2 diabetes had an impaired ability to increase fatty acid oxidation in response to the high-fat meal (P FAT)/CD36 (P fat meal in both groups, but it was not changed after the high-carbohydrate meal. In conclusion, an impaired ability to increase fatty acid oxidation precedes the development of insulin resistance in genetically susceptible individuals. PGC1alpha and FAT/CD36 are likely candidates in mediating this response.

  12. Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study.

    Science.gov (United States)

    Márquez-Rodas, Iván; López-Trabada, Daniel; Rupérez Blanco, Ana Belén; Custodio Cabello, Sara; Peligros Gómez, María Isabel; Orera Clemente, María; Calvo, Felipe A; Martín, Miguel

    2012-01-01

    Identification of patients at risk of hereditary cancer is an essential component of oncology practice, since it enables clinicians to offer early detection and prevention programs. However, the large number of hereditary syndromes makes it difficult to take them all into account in daily practice. Consequently, the National Cancer Institute (NCI) has suggested a series of criteria to guide initial suspicion. It was the aim of this study to assess the perception of the risk of hereditary cancer according to the NCI criteria in our medical oncology service. We retrospectively analyzed the recordings of the family history in new cancer patients seen in our medical oncology service from January to November 2009, only 1 year before the implementation of our multidisciplinary hereditary cancer program. The family history was recorded in only 175/621 (28%) patients. A total of 119 (19%) patients met 1 or more NCI criteria (1 criterion, n = 91; 2 criteria, n = 23; 3 criteria, n = 4; and 4 criteria, n = 1), and only 14 (11.4%) patients were referred to genetic counseling. This study shows that few clinicians record the family history. The perception of the risk of hereditary cancer is low according to the NCI criteria in our medical oncology service. These findings can be explained by the lack of a multidisciplinary hereditary cancer program when the study was performed. Copyright © 2012 S. Karger AG, Basel.

  13. Family history of systemic lupus erythematosus and risk of autoimmune disease: Nationwide Cohort Study in Denmark 1977-2013.

    Science.gov (United States)

    Ulff-Møller, Constance Jensina; Simonsen, Jacob; Kyvik, Kirsten Ohm; Jacobsen, Søren; Frisch, Morten

    2017-06-01

    To provide population-based estimates of relative risk of SLE and other autoimmune diseases (ADs) in relatives of SLE patients. A cohort of 5 237 319 Danish residents identified through the Civil Registration System was coupled to their relatives through the parental link and followed for SLE and other ADs between 1977 and 2013 through linkage to the National Patient Register. Twin zygosity was established through the Danish Twin Registry. Hazard ratios (HRs) with 95% CIs were calculated using Cox proportional hazards regression analyses. During 117.5 million person-years of follow-up, 3612 persons were hospitalized with SLE. HRs of SLE were high among first-degree (HR = 10.3; 95% CI: 8.25, 12.9; n = 80) and second- or third-degree relatives of SLE patients (HR = 3.60; 95% CI: 2.20, 5.90; n = 16). HRs for any AD were elevated in first-degree (HR = 1.51; 95% CI: 1.41, 1.62; n = 785) and second- or third-degree relatives of SLE patients (HR = 1.28; 95% CI: 1.18, 1.39; n = 582). Among individuals with SLE-affected first-degree relatives, the risk was significantly increased for RA (HR = 1.64; 95% CI: 1.35, 1.99; n = 103), IBD (HR = 1.21; 95% CI: 1.02, 1.43; n = 130) and type 1 diabetes mellitus (HR = 1.23; 95% CI: 1.01, 1.48; n = 106). Risk of other ADs was significantly increased both among SLE-affected first-degree (HR = 2.08; 95% CI: 1.88, 2.31; n = 371) and second- or third-degree relatives (HR = 1.38; 95% CI: 1.23, 1.54; n = 313). Family history of SLE is associated with a clearly elevated risk of SLE and, to a much lesser degree, of RA and other ADs. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  14. FAMILY HISTORY STUDY OF THE FAMILIAL COAGGREGATION OF BORDERLINE PERSONALITY DISORDER WITH AXIS I AND NON-BORDERLINE DRAMATIC CLUSTER AXIS II DISORDERS

    OpenAIRE

    Zanarini, Mary C.; Barison, Leah K.; Frankenburg, Frances R.; Reich, D. Bradford; Hudson, James I.

    2009-01-01

    The purpose of this study was to assess the familial coaggregation of borderline personality disorder (BPD) with a full array of axis I disorders and four axis II disorders (antisocial personality disorder, histrionic personality disorder, narcissistic personality disorder, and sadistic personality disorder) in the first-degree relatives of borderline probands and axis II comparison subjects. Four hundred and forty-five inpatients were interviewed about familial psychopathology using the Revi...

  15. Claudin expression in follicle-associated epithelium of rat Peyer's patches defines a major restriction of the paracellular pathway.

    Science.gov (United States)

    Markov, A G; Falchuk, E L; Kruglova, N M; Radloff, J; Amasheh, S

    2016-01-01

    Members of the tight junction protein family of claudins have been demonstrated to specifically determine paracellular permeability of the intestinal epithelium. In small intestinal mucosa, which is generally considered to be a leaky epithelium, Peyer's patches are a primary part of the immune system. The aim of this study was to analyse the tight junctional barrier of follicle-associated epithelium covering Peyer's patches (lymphoid follicles). Employing small intestinal tissue specimens of male Wistar rats, electrophysiological analyses including the Ussing chamber technique, marker flux measurements and one-path impedance spectroscopy were performed. Morphometry of HE-stained tissue sections was taken into account. Claudin expression and localization was analysed by immunoblotting and confocal laser scanning immunofluorescence microscopy. Almost twofold higher parameters of epithelial and transepithelial tissue resistance and a markedly lower permeability for the paracellular permeability markers 4 and 20 kDa FITC-dextran were detected in follicle-associated epithelium compared to neighbouring villous epithelium. Analysis of claudin expression and localization revealed a stronger expression of major sealing proteins in follicle-associated epithelium, including claudin-1, claudin-4, claudin-5 and claudin-8. Therefore, the specific expression and localization of claudins is in accordance with barrier properties of follicle-associated epithelium vs. neighbouring villous epithelium. We demonstrate that follicle-associated epithelium is specialized to ensure maximum restriction of the epithelial paracellular pathway in Peyer's patches by selective sealing of tight junctions. This results in an exclusive transcellular pathway of epithelial cells as the limiting and mandatory route for a controlled presentation of antigens to the underlying lymphocytes under physiological conditions. © 2015 Scandinavian Physiological Society. Published by John Wiley & Sons Ltd.

  16. Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

    Science.gov (United States)

    Kang, Peter Choon Eng; Phuah, Sze Yee; Sivanandan, Kavitta; Kang, In Nee; Thirthagiri, Eswary; Liu, Jian Jun; Hassan, Norhashimah; Yoon, Sook-Yee; Thong, Meow Keong; Hui, Miao; Hartman, Mikael; Yip, Cheng Har; Mohd Taib, Nur Aishah; Teo, Soo Hwang

    2014-04-01

    Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with Malays, 3 BRCA1 and 2 BRCA2 mutations in Chinese and 1 BRCA1 mutation in Indians account for 60, 24 and 20 % of carrier families, respectively. By contrast, haplotype analyses suggest that a recurrent BRCA2 mutation (c.262_263delCT) found in 5 unrelated Malay families has at least 3 distinct haplotypes. Taken together, our data suggests that panel testing may help to identify carriers, particularly Asian BRCA2 carriers, who do not present with a priori strong family history characteristics.

  17. The potential impact of family history of metabolic syndrome and risk of type 2 diabetes mellitus: In a highly endogamous population.

    Science.gov (United States)

    Bener, Abdulbari; Darwish, Sarah; Al-Hamaq, Abdulla O A; Yousafzai, Mohammad T; Nasralla, Eman A

    2014-03-01

    This study aims to determine the potential impact of positive family history of Metabolic Syndrome (MetS) among two generations, on developing Type 2 Diabetes Mellitus (T2DM) and the potential relation of consanguineous marriage among patients with MetS to the risk of developing T2DM among a sample of Qataris. A cross-sectional study. Primary healthcare (PHC) centers. The survey and measurement were conducted from April 2011 to December 2012 among Qatari nationals above 20 years of age. Of the 2,182 subjects, who were approached to participate in the study, 1,552 (71%) gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by anthropometric measurements and laboratory tests. Metabolic syndrome was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (ATP III) as well as International Diabetes Federation (IDF). Overall, the prevalence of MetS was 26.2% according to ATP III and 36.9% according to IDF (P family history for MetS was significantly higher in MetS patients with T2DM as compared to those without T2DM (46.7% vs. 33.8%; P = 0.009). The proportion of positive family history of MetS among fathers (35% vs. 21.9%; P = 0.005), mothers (30.5% vs. 18.8%; P = 0.008), maternal aunt (18.3% vs. 11.2%; P = 0.055), and maternal grand father (19.5% vs. 10%; P = 0.010) were significantly higher in MetS patients with T2DM as compared to the counterpart. The proportion of consanguineous marriages was almost two times higher among MetS patients with T2DM as compared to those without T2DM (80.9% vs. 41.9%; P Family history of MetS among parents, maternal aunt, maternal grandfather, and consanguineous marriages among patients of MetS are significantly associated with the development of T2DM in Qatar. These results support the necessity of earlier screening for T2DM among MetS patients with positive family history of MetS.

  18. A comparison of symptoms and family history in schizophrenia with and without prior cannabis use: implications for the concept of cannabis psychosis.

    Science.gov (United States)

    Boydell, J; Dean, K; Dutta, R; Giouroukou, E; Fearon, P; Murray, R

    2007-07-01

    There is considerable interest in cannabis use in psychosis. It has been suggested that the chronic psychosis associated with cannabis use, is symptomatically distinct from idiopathic schizophrenia. Several studies have reported differences in psychopathology and family history in people with schizophrenia according to whether or not they were cannabis users. We set out to test the hypotheses arising from these studies that cannabis use is associated with more bizarre behaviour, more thought disorder, fewer negative symptoms including blunted affect, more delusions of reference, more paranoid delusions and a stronger family history of schizophrenia. We used a case register that contained 757 cases of first onset schizophrenia, 182 (24%) of whom had used cannabis in the year prior to first presentation, 552 (73%) had not and 3% had missing data. We completed the OPCRIT checklist on all patients and investigated differences in the proportion of people with distractibility, bizarre behaviour, positive formal thought disorder, delusions of reference, well organised delusions, any first rank symptom, persecutory delusions, abusive/accusatory hallucinations, blunted affect, negative thought disorder, any negative symptoms (catatonia, blunted affect, negative thought disorder, or deterioration), lack of insight, suicidal ideation and a positive family history of schizophrenia, using chi square tests. Logistic regression modelling was then used to determine whether prior cannabis use affected the presence of the characteristics after controlling for age, sex and ethnicity. There was no statistically significant effect of cannabis use on the presence of any of the above. There remained however a non-significant trend towards more insight (OR 0.65 p=0.055 for "loss of insight") and a finding of fewer abusive or accusatory hallucinations (OR 0.65 p=0.049) of borderline significance amongst the cannabis users. These were in the hypothesised direction. There was no evidence of

  19. Asthma and atopy in children born by caesarean section: effect modification by family history of allergies – a population based cross-sectional study

    Directory of Open Access Journals (Sweden)

    Kolokotroni Ourania

    2012-11-01

    Full Text Available Abstract Background Studies on the association of birth by caesarean section (C/S and allergies have produced conflicting findings. Furthermore, evidence on whether this association may differ in those at risk of atopy is limited. This study aims to investigate the association of mode of delivery with asthma and atopic sensitization and the extent to which any effect is modified by family history of allergies. Methods Asthma outcomes were assessed cross-sectionally in 2216 children at age 8 on the basis of parents’ responses to the ISAAC questionnaire whilst skin prick tests to eleven aeroallergens were also performed in a subgroup of 746 children. Adjusted odds ratios of asthma and atopy by mode of delivery were estimated in multivariable logistic models while evidence of effect modification was examined by introducing interaction terms in the models. Results After adjusting for potential confounders, children born by C/S appeared significantly more likely than those born vaginally to report ever wheezing (OR 1.36, 95% CI 1.07-1.71, asthma diagnosis (OR 1.41, 95% CI 1.09-1.83 and be atopic (OR 1.67, 95% CI 1.08-2.60. There was modest evidence that family history of allergies may modify the effect of C/S delivery on atopy (p for effect modification=0.06 but this was not the case for the asthma outcomes. Specifically, while more than a two-fold increase in the odds of being a topic was observed in children with a family history of allergies if born by C/S (OR 2.62, 95% CI 1.38-5.00, no association was observed in children without a family history of allergies (OR 1.16, 95% CI 0.64-2.11. Conclusions Birth by C/S is associated with asthma and atopic sensitization in childhood. The association of C/S and atopy appears more pronounced in children with family history of allergies.

  20. Comparison of Patient Health History Questionnaires Used in General Internal and Family Medicine, Integrative Medicine, and Complementary and Alternative Medicine Clinics.

    Science.gov (United States)

    Laube, Justin G R; Shapiro, Martin F

    2017-05-01

    Health history questionnaires (HHQs) are a set of self-administered questions completed by patients prior to a clinical encounter. Despite widespread use, minimal research has evaluated the content of HHQs used in general internal medicine and family medicine (GIM/FM), integrative medicine, and complementary and alternative medicine (CAM; chiropractic, naturopathic, and Traditional Chinese Medicine [TCM]) clinics. Integrative medicine and CAM claim greater emphasis on well-being than does GIM/FM. This study investigated whether integrative medicine and CAM clinics' HHQs include more well-being content and otherwise differ from GIM/FM HHQs. HHQs were obtained from GIM/FM (n = 9), integrative medicine (n = 11), naturopathic medicine (n = 5), chiropractic (n = 4), and TCM (n = 7) clinics in California. HHQs were coded for presence of medical history (chief complaint, past medical history, social history, family history, surgeries, hospitalizations, medications, allergies, review of systems), health maintenance procedures (immunization, screenings), and well-being components (nutrition, exercise, stress, sleep, spirituality). In HHQs of GIM/FM clinics, the average number of well-being components was 1.4 (standard deviation [SD], 1.4) compared with 4.0 (SD, 1.1) for integrative medicine (p medicine (p = 0.04), 2.0 (SD, 1.4) for chiropractic (p = 0.54), and 2.0 (SD, 1.5) for TCM (p = 0.47). In HHQs of GIM/FM clinics, the average number of medical history components was 6.4 (SD, 1.9) compared with 8.3 (SD, 1.2) for integrative medicine (p = 0.01), 9.0 (SD, 0) for naturopathic medicine (p = 0.01), 7.1 (SD, 2.8) for chiropractic (p = 0.58), and 7.1 (SD, 1.7) for TCM (p = 0.41). Integrative and naturopathic medicine HHQs included significantly more well-being and medical history components than did GIM/FM HHQs. Further investigation is warranted to determine the optimal HHQ content to support the clinical and preventive

  1. The association between intelligence scores and family history of psychiatric disorder in schizophrenia patients, their siblings and healthy controls

    NARCIS (Netherlands)

    Verweij, Kim H. W.; Derks, Eske M.; Kahn, René S.; Linszen, Don; van Os, Jim; Wiersma, Durk; Bruggeman, Richard; Cahn, Wiepke; de Haan, Lieuwe; Krabbendam, Lydia; Myin-Germeys, Inez

    2013-01-01

    The degree of intellectual impairment in schizophrenia patients and their relatives has been suggested to be associated with the degree of familial loading for schizophrenia. Since other psychiatric disorders are also more present in relatives of schizophrenia patients, the definition of family

  2. 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…

  3. Prostaglandin E2 release from dermis regulates sodium permeability of frog skin epithelium

    DEFF Resear