Familial cancer history in patients with carcinoma of the cervix uteri.

PubMed

Horn, Lars-Christian; Raptis, Georgios; Fischer, Uta

2002-02-10

Several cancers show the tendency to aggregate in families. But the contribution of heredity to the causation of sporadic malignancies, like cervical cancer is unclear. Seven hundred and thirty-seven women with operative treated cervical cancer (CX) were searched for familiar history of malignant tumours. Positive familial history was stated, if one first degree relative was affected by malignant tumour. The site of malignant tumour was stated and the mean age was compared. Twenty-two percent of the women had malignancies at different sites in first degree relatives. In about one-half the mother, in 30% the father and in 11% more than one first degree relative was affected. Overall, first degree relatives of 21 patients (13%) had malignancies of the lungs or the oro-pharynx. Thirty-seven women had malignant tumours of the lower genital tract and 11 had invasive cervical cancer. Mean age of patients with positive familial history was the same as those without (43 versus 42 years) it. But, women whose first degree female relatives had cervical cancer were significantly younger than those with extragenital malignancies (37 versus 45 years). The mean 5-year survival rate was higher in patients with a positive familial cancer history (85.6% versus 74.6%; P=1.7). The data suggest, that a small number of patients have a familial susceptibility for cervical cancer and probably for HPV-associated neoplasms. Further studies establishing the immune status and the search for genetic polymorphisms of these patients are required.

Risk of breast cancer and family history of other cancers in first-degree relatives in Chinese women: a case control study.

PubMed

Zhou, Wenbin; Ding, Qiang; Pan, Hong; Wu, Naping; Liang, Mengdi; Huang, Yaoyu; Chen, Lin; Zha, Xiaoming; Liu, Xiaoan; Wang, Shui

2014-09-11

Few studies have systematically reported the relationship between the risk of breast cancer and family history of other cancers. This study was designed to systematically determine the relationship between breast cancer risk and family history of other cancers in first-degree relatives. Between January 2006 and June 2011, 823 women diagnosed with breast cancer were included, and age-matched women diagnosed with benign breast disease were selected as controls. Family history of other cancers in first-degree relatives was recorded by trained reviewers. Multivariate logistic regression was applied to analyze the relationships. A family history of esophagus cancer (OR: 2.70, 95% CI: 1.11 - 6.57), lung cancer (OR: 2.49 95% CI: 1.10 - 5.65), digestive system cancer (OR: 1.79, 95% CI: 1.14 - 2.79) and any cancer (OR: 2.13, 95% CI: 1.49 - 3.04) in first-degree relatives was directly associated with increased breast cancer risk. In subgroup analysis, the risk of hormone receptor positive breast cancer was increased in subjects with a family history of lung cancer (OR: 3.37, 95% CI: 1.45 - 7.82), while the risk of hormone receptor negative breast cancer was increased in subjects with a family history of esophagus cancer (OR: 6.19, 95% CI: 2.30 - 16.71), uterus cancer (OR: 6.92, 95% CI: 1.12 - 42.89), digestive tract cancer (OR: 2.05, 95% CI: 1.03 - 4.10) and gynecology cancer (OR: 6.79, 95% CI: 1.46 - 31.65). Additionally, a significant increase in breast cancer was observed with a family history of digestive system cancer for subjects 50 y and younger (OR: 1.88, 95% CI: 1.03 - 3.43), not for subjects 50 y older (OR: 1.67, 95% CI: 0.86 - 3.25). Breast cancer aggregates in families with several types of cancer especially for digestive system cancer. The influence of a family history of other cancers seems more likely to be limited to hormone receptor negative breast cancer.

Contribution of extended family history in assessment of risk for breast and colon cancer.

PubMed

Solomon, Benjamin L; Whitman, Todd; Wood, Marie E

2016-09-01

Family history is important for identifying candidates for high risk cancer screening and referral for genetic counseling. We sought to determine the percentage of individuals who would be eligible for high risk cancer screening or genetic referral and testing if family history includes an extended (vs limited) family history. Family histories were obtained from 626 women at UVMMC associated mammography centers from 2001 to 2002. ACS guidelines were used to determine eligibility for high risk breast or colon cancer screening. Eligibility for referral for genetic counseling for hereditary breast and colon cancer was determined using the Referral Screening Tool and Amsterdam II screening criteria, respectively. All family histories were assessed for eligibility by a limited history (first degree relatives only) and extended history (first and second degree relatives). Four hundred ninety-nine histories were eligible for review. 18/282 (3.6 %) and 62/123 (12 %) individuals met criteria for high risk breast and colon cancer screening, respectively. 13/18 (72 %) in the high risk breast cancer screening group and 12/62 (19 %) in the high risk colon cancer screening group met criteria based upon an extended family history. 9/282 (1.8 %) and 31/123 (6.2 %) individuals met criteria for genetic counseling referral and testing for breast and colon cancer, respectively. 2/9 (22 %) of individuals in the genetic breast cancer screening group and 21/31 (68 %) individuals in the genetic colon cancer screening group met criteria based upon extended family history. This is one of the first studies to suggest that first degree family history alone is not adequate for identification of candidates for high risk screening and referral for genetic counseling for hereditary breast and colon cancer syndromes. A larger population is needed to further validate this data.

Family History of Alzheimer's Disease and Cortical Thickness in Patients With Dementia.

PubMed

Ganske, Steffi; Haussmann, Robert; Gruschwitz, Antonia; Werner, Annett; Osterrath, Antje; Baumgaertel, Johanna; Lange, Jan; Donix, Katharina L; Linn, Jennifer; Donix, Markus

2016-08-01

A first-degree family history of Alzheimer's disease reflects genetic risks for the neurodegenerative disorder. Recent imaging data suggest localized effects of genetic risks on brain structure in healthy people. It is unknown whether this association can also be found in patients who already have dementia. Our aim was to investigate whether family history risk modulates regional medial temporal lobe cortical thickness in patients with Alzheimer's disease. We performed high-resolution magnetic resonance imaging and cortical unfolding data analysis on 54 patients and 53 nondemented individuals. A first-degree family history of Alzheimer's disease was associated with left hemispheric cortical thinning in the subiculum among patients and controls. The contribution of Alzheimer's disease family history to regional brain anatomy changes independent of cognitive impairment may reflect genetic risks that modulate onset and clinical course of the disease. © The Author(s) 2016.

[Breast cancer and heredity: results of a population case-control study in Girona].

PubMed

de Sanjosé, S; Viladiu, P; Cordón, F; Vilardell, L; Marcos, R; Izquìerdo, A

1998-03-21

To characterise the relationship between breast cancer and different aspects of the reproductive life, use of drugs and alcohol by family history of breast cancer. From the cancer registry of Girona, Spain, 330 women were identified with histologically confirmed breast cancer during 1986-1989. For each case, a control woman was selected from a random sample of the population living in the matched area to the case by age (+/- 5 yr.). The information was collected by a personal interview and included: family history of breast cancer, reproductive history, presence of acne during the teenage years, use of oral contraceptives and drugs for sleep and anxiety disorders, and alcohol consumption. 18.5% of breast cancer cases and 8.9% of all controls had a family history of breast cancer. Family history on a first degree relative (mother or sister) was present in 10.6% of the cases and 2.8% of controls, which represented an odds ratio for breast cancer of 3.7 (95% CI, 1.8-7.8) higher than the general population. Women with a first degree family history of breast cancer were at higher risk for breast cancer if they had a history of acne during the teenage period (OR = 2.4; 95% CI, 1.1-5.2) and if they referred long menstrual periods in the early years of menarche (OR = 3.1; 95% CI, 1.3-7.0). Women with no family history had a higher breast cancer risk if they had a late menarche, long menstrual periods, late first full term pregnancy, and history of acne during puberty. Alcohol consumption and use of drugs for anxiety and sleep disorders were associated with a decreased risk of breast cancer. First degree family history of breast cancer seems to be the best risk indicator for developing breast cancer. Long menstrual periods and presence of acne during puberty may indicate hormonal imbalance that act independently of the family history in breast cancer development.

Family history of rheumatoid arthritis: an old concept with new developments.

PubMed

Frisell, Thomas; Saevarsdottir, Saedis; Askling, Johan

2016-06-01

Family history of rheumatoid arthritis (RA) is a proxy for an individual's genetic and, in part, environmental risk of developing RA, and is a well-recognized predictor of disease onset. Although family history of RA is an old concept, the degree of familial aggregation of RA, whether it differs by age, sex, or serology, and what value it has for clinical decisions once a diagnosis of RA has been made remain unclear. New data have been emerging in parallel to substantial progress made in genetic association studies. In this Review, we describe the various ways that familial aggregation has been measured, and how the findings from these studies, whether they are based on twins, cohorts of first-degree relatives, or genetic data, correspond to each other and aid understanding of the aetiology of RA. In addition, we review the potential usefulness of family history of RA from a clinical point of view, demonstrating that, in the era of big data and genomics, family history still has a role in directing clinical decision-making and research.

Glaucoma history and risk factors.

PubMed

McMonnies, Charles W

Apart from the risk of developing glaucoma there is also the risk that it is not detected and irreversible loss of vision ensues. Some studies of methods of glaucoma diagnosis have examined the results of instrument-based examinations with great if not complete reliance on objective findings in arriving at a diagnosis. The very valuable advances in glaucoma detection instrument technologies, and apparent increasing dependence on them, may have led to reduced consideration of information available from a patient history in those studies. Dependence on objective evidence of glaucomatous pathology may reduce the possibility of detecting glaucoma suspects or patients at risk for becoming glaucoma suspects. A valid positive family history of glaucoma is very valuable information. However, negative family histories can often be unreliable due to large numbers of glaucoma cases being undiagnosed. No evidence of family history is appropriate rather than no family history. In addition the unreliability of a negative family history is increased when patients with glaucoma fail to inform their family members. A finding of no family history can only be stated as no known family history. In examining the potential diagnostic contribution from a patient history, this review considers, age, frailty, race, type and degree of refractive error, systemic hyper- and hypotension, vasospasm, migraine, pigmentary dispersion syndrome, pseudoexfoliation syndrome, obstructive sleep apnea syndrome, diabetes, medication interactions and side effects, the degree of exposure to intraocular and intracranial pressure elevations and fluctuations, smoking, and symptoms in addition to genetics and family history of the disease. Copyright © 2016 Spanish General Council of Optometry. Published by Elsevier España, S.L.U. All rights reserved.

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

PubMed

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.

Towards personalized screening: cumulative risk of breast cancer screening outcomes in women with and without a first-degree relative with a history of breast cancer

PubMed Central

Ripping, T.M.; Hubbard, R.A.; Otten, J.D.M.; den Heeten, G.J.; Verbeek, A.L.M.; Broeders, M.J.M.

2016-01-01

Several reviews have estimated the balance of benefits and harms of mammographic screening in the general population. The balance may, however, differ between individuals with and without family history. Therefore, our aim is to assess the cumulative risk of screening outcomes; screen-detected breast cancer, interval cancer, and false-positive results, in women screenees aged 50–75 and 40–75, with and without a first-degree relative with a history of breast cancer at the start of screening. Data on screening attendance, recall and breast cancer detection were collected for each woman living in Nijmegen (the Netherlands) since 1975. We used a discrete time survival model to calculate the cumulative probability of each major screening outcome over 19 screening rounds. Women with a family history of breast cancer had a higher risk of all screening outcomes. For women screened from age 50–75, the cumulative risk of screen-detected breast cancer, interval cancer and false-positive results were 9.0%, 4.4% and 11.1% for women with a family history and 6.3%, 2.7% and 7.3% for women without a family history, respectively. The results for women 40–75 followed the same pattern for women screened 50–75 for cancer outcomes, but were almost doubled for false-positive results. To conclude, women with a first-degree relative with a history of breast cancer are more likely to experience benefits and harms of screening than women without a family history. To complete the balance and provide risk-based screening recommendations, the breast cancer mortality reduction and overdiagnosis should be estimated for family history subgroups. PMID:26537645

Towards personalized screening: Cumulative risk of breast cancer screening outcomes in women with and without a first-degree relative with a history of breast cancer.

PubMed

Ripping, Theodora Maria; Hubbard, Rebecca A; Otten, Johannes D M; den Heeten, Gerard J; Verbeek, André L M; Broeders, Mireille J M

2016-04-01

Several reviews have estimated the balance of benefits and harms of mammographic screening in the general population. The balance may, however, differ between individuals with and without family history. Therefore, our aim is to assess the cumulative risk of screening outcomes; screen-detected breast cancer, interval cancer, and false-positive results, in women screenees aged 50-75 and 40-75, with and without a first-degree relative with a history of breast cancer at the start of screening. Data on screening attendance, recall and breast cancer detection were collected for each woman living in Nijmegen (The Netherlands) since 1975. We used a discrete time survival model to calculate the cumulative probability of each major screening outcome over 19 screening rounds. Women with a family history of breast cancer had a higher risk of all screening outcomes. For women screened from age 50-75, the cumulative risk of screen-detected breast cancer, interval cancer and false-positive results were 9.0, 4.4 and 11.1% for women with a family history and 6.3, 2.7 and 7.3% for women without a family history, respectively. The results for women 40-75 followed the same pattern for women screened 50-75 for cancer outcomes, but were almost doubled for false-positive results. To conclude, women with a first-degree relative with a history of breast cancer are more likely to experience benefits and harms of screening than women without a family history. To complete the balance and provide risk-based screening recommendations, the breast cancer mortality reduction and overdiagnosis should be estimated for family history subgroups. © 2015 UICC.

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

PubMed Central

Jeppesen, Pia; Larsen, Janne Tidselbak; Clemmensen, Lars; Munkholm, Anja; Rimvall, Martin Kristian; Rask, Charlotte Ulrikka; van Os, Jim; Petersen, Liselotte; Skovgaard, Anne Mette

2015-01-01

Psychotic experiences (PE) in individuals of the general population are hypothesized to mark the early expression of the pathology underlying psychosis. This notion of PE as an intermediate phenotype is based on the premise that PE share genetic liability with psychosis. We examined whether PE 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] = 3.29, 95% CI: 1.82–5.93). The risk increased for combined hallucinations and delusions (adjusted RR = 5.90, 95% CI: 2.64–13.16). A history of nonpsychotic mental disorders in first-degree relatives did not contribute to the risk of PE in offspring nor did any mental disorder among second-degree relatives. Our findings support the notion of PE as a vulnerability marker of transdiagnostic psychosis. The effect of psychosis in first-degree relatives may operate through shared genetic and environmental factors. PMID:25452427

Announcement: National Family History Day - November 24, 2016.

PubMed

2016-11-25

In 2004, the U.S. Surgeon General declared that Thanksgiving would be National Family History Day, a day designed to encourage American families to learn about and create a written record of their family health history. Family history can identify those persons with a higher-than-average risk for many common diseases, such as heart disease, cancer, and type 2 diabetes. Having at least one first-degree relative with a disease can increase a person's risk twofold or more (1). Family history is also a determinant of less common diseases like sickle cell disease and cystic fibrosis (1). Persons who might be at increased risk because of family history might benefit from screening or other interventions to prevent disease or detect it earlier.

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

PubMed

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.

Familial history of cancer and childhood acute leukemia: a French population-based case-control study.

PubMed

Ripert, Mahaut; Menegaux, Florence; Perel, Yves; Méchinaud, Françoise; Plouvier, Emmanuel; Gandemer, Virginie; Lutz, Patrick; Vannier, Jean-Pierre; Lamagnére, Jean-Pierre; Margueritte, Geneviève; Boutard, Patrick; Robert, Alain; Armari-Alla, Corinne; Munzer, Martine; Millot, Frédéric; de Lumley, Lionel; Berthou, Christian; Rialland, Xavier; Pautard, Brigitte; Clavel, Jacqueline

2007-10-01

A case-control study was conducted to investigate the role of a familial history of cancer in the etiology of childhood acute leukemia. The history of cancer in the relatives of 472 cases was compared with that of 567 population-based controls. Recruitment was frequency matched on age, sex and region. The familial history of cancer in each child's relatives was reported by the mother in response to a standardized self-administered questionnaire. A familial history of solid tumor in first or second-degree relatives was associated with an increased risk of acute lymphoblastic leukemia (odds ratio (OR)=1.6 [95% confidence interval, 1.2-2.1]), while a familial history of hematopoietic malignancies in first or second-degree relatives was associated with an increased risk of acute myeloid leukemia (OR=4.3 [1.4-13]). The ORs for the histories of cancer increased with the number of relatives with cancer (OR=1.5 [1.1-2.0] for one relative and OR=2.3 [1.3-3.8] for two relatives or more; Ptrend<0.0001). Significant associations between childhood acute leukemia and familial history of genital cancers and brain tumor were also observed (OR=2.7 [1.2-5.8] and OR=10.7 [1.3-86], respectively). This study supports the hypothesis that a familial history of cancer may play a role in the etiology of childhood acute leukemia. It also evidences some specific associations that require further investigation.

Gastric cancer and family history.

PubMed

Choi, Yoon Jin; Kim, Nayoung

2016-11-01

Gastric cancer is associated with high morbidity and mortality rates worldwide. Identifying individuals at high risk is important for surveillance and prevention of gastric cancer. Having first-degree relatives diagnosed with gastric cancer is a strong and consistent risk factor for gastric cancer, but the pathogenic mechanisms behind this familial aggregation are unclear. Against this background, we reviewed the risk factors for gastric cancer in those with a first-degree relative with gastric cancer, and the possible causes for familial clustering of gastric cancer including bacterial factors, inherited genetic susceptibility, environmental factors or a combination thereof. Among individuals with a family history, current or past Helicobacter pylori infection, having two or more first-degree affected relatives or female gender was associated with an increased risk of developing gastric cancer. To date, no specific single nucleotide polymorphism has been shown to be associated with familial clustering of gastric cancer. H. pylori eradication is the most important strategy for preventing gastric cancer in first-degree relatives of gastric cancer patients, particularly those in their 20s and 30s. Early H. pylori eradication could prevent the progression to intestinal metaplasia and reduce the synergistic effect on gastric carcinogenesis in individuals with both H. pylori infection and a family history. Endoscopic surveillance is also expected to benefit individuals with a family history. Further large-scale, prospective studies are warranted to evaluate the cost-effectiveness and optimal time point for endoscopy in this population. Moreover, genome-wide association studies that incorporate environmental and dietary factors on a 'big data' basis will increase our understanding of the pathogenesis of gastric cancer.

Preoperative Breast Magnetic Resonance Imaging Use by Breast Density and Family History of Breast Cancer.

PubMed

Henderson, Louise M; Hubbard, Rebecca A; Zhu, Weiwei; Weiss, Julie; Wernli, Karen J; Goodrich, Martha E; Kerlikowske, Karla; DeMartini, Wendy; Ozanne, Elissa M; Onega, Tracy

2018-01-15

Use of preoperative breast magnetic resonance imaging (MRI) among women with a new breast cancer has increased over the past decade. MRI use is more frequent in younger women and those with lobular carcinoma, but associations with breast density and family history of breast cancer are unknown. Data for 3075 women ages >65 years with stage 0-III breast cancer who underwent breast conserving surgery or mastectomy from 2005 to 2010 in the Breast Cancer Surveillance Consortium were linked to administrative claims data to assess associations of preoperative MRI use with mammographic breast density and first-degree family history of breast cancer. Multivariable logistic regression estimated adjusted odds ratios (OR) and 95% confidence intervals (95% CI) for the association of MRI use with breast density and family history, adjusting for woman and tumor characteristics. Overall, preoperative MRI use was 16.4%. The proportion of women receiving breast MRI was similar by breast density (17.6% dense, 16.9% nondense) and family history (17.1% with family history, 16.5% without family history). After adjusting for potential confounders, we found no difference in preoperative MRI use by breast density (OR = 0.95 for dense vs. nondense, 95% CI: 0.73-1.22) or family history (OR = 0.99 for family history vs. none, 95% CI: 0.73-1.32). Among women aged >65 years with breast cancer, having dense breasts or a first-degree relative with breast cancer was not associated with greater preoperative MRI use. This utilization is in keeping with lack of evidence that MRI has higher yield of malignancy in these subgroups.

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

PubMed

Augustinsson, Annelie; Ellberg, Carolina; Kristoffersson, Ulf; Borg, Åke; Olsson, Håkan

2018-05-01

The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden. Self-reported and registry-reported information regarding first-degree family history of cancer was collected together with information regarding tumor characteristics. Almost perfect agreement was observed between self-reported and registry-reported information regarding first-degree family history of BC (κ = 0.92) and OvC (κ = 0.86). Lesser agreement was observed between reports regarding family history of other types of cancer (κ = 0.51). Mutation screening revealed pathogenic germline mutations in 30.4%; 18.8% in BRCA1, 7.1% in BRCA2 and 4.5% in other genes. Compared with other mutation groups, BRCA1 mutation carriers were more likely to be diagnosed with high-grade, ER-, PR- and triple-negative tumors. Our results demonstrate that physicians and genetic counselors can rely on self-reported information regarding BC and OvC in first-degree relatives. However, self-reported information regarding other types of cancer is not communicated as effectively, and there should be more focus on retrieving the correct information regarding family history of all tumor types. Furthermore, we observed that even though all BC patients fulfilled the criteria for genetic counseling and testing, a large number of patients diagnosed at ≤35 years of age did not receive genetic counseling at the Oncogenetic Clinic. This finding merits further elucidation.

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

PubMed

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.

Increased risk of lung cancer in individuals with a family history of the disease: A pooled analysis from the International Lung Cancer Consortium

PubMed Central

Coté, Michele L.; Liu, Mei; Bonassi, Stefano; Neri, Monica; Schwartz, Ann G.; Christiani, David C.; Spitz, Margaret R.; Muscat, Joshua E.; Rennert, Gad; Aben, Katja K.; Andrew, Angeline S.; Bencko, Vladimir; Bickeböller, Heike; Boffetta, Paolo; Brennan, Paul; Brenner, Hermann; Duell, Eric J.; Fabianova, Eleonora; Field, John K.; Foretova, Lenka; Friis, Søren; Harris, Curtis C.; Holcatova, Ivana; Hong, Yun-Chul; Isla, Dolores; Janout, Vladimir; Kiemeney, Lambertus A.; Kiyohara, Chikako; Lan, Qing; Lazarus, Philip; Lissowska, Jolanta; Marchand, Loic Le; Mates, Dana; Matsuo, Keitaro; Mayordomo, Jose I.; McLaughlin, John R.; Morgenstern, Hal; Müeller, Heiko; Orlow, Irene; Park, Bernard J.; Pinchev, Mila; Raji, Olaide Y.; Rennert, Hedy S.; Rudnai, Peter; Seow, Adeline; Stucker, Isabelle; Szeszenia-Dabrowska, Neonila; Teare, M. Dawn; Tjønnelan, Anne; Ugolini, Donatella; van der Heijden, Henricus F.M.; Wichmann, Erich; Wiencke, John K.; Woll, Penella J.; Yang, Ping; Zaridze, David; Zhang, Zuo-Feng; Etzel, Carol J.; Hung, Rayjean J.

2012-01-01

Background and Methods Familial aggregation of lung cancer exists after accounting for cigarette smoking. However, the extent to which family history affects risk by smoking status, histology, relative type and ethnicity is not well described. This pooled analysis included 24 case-control studies in the International Lung Cancer Consortium. Each study collected age of onset/interview, gender, race/ethnicity, cigarette smoking, histology and first-degree family history of lung cancer. Data from 24,380 lung cancer cases and 23,305 healthy controls were analyzed. Unconditional logistic regression models and generalized estimating equations were used to estimate odds ratios and 95% confidence intervals. Results Individuals with a first-degree relative with lung cancer had a 1.51-fold increase in risk of lung cancer, after adjustment for smoking and other potential confounders(95% CI: 1.39, 1.63). The association was strongest for those with a family history in a sibling, after adjustment (OR=1.82, 95% CI: 1.62, 2.05). No modifying effect by histologic type was found. Never smokers showed a lower association with positive familial history of lung cancer (OR=1.25, 95% CI: 1.03, 1.52), slightly stronger for those with an affected sibling (OR=1.44, 95% CI: 1.07, 1.93), after adjustment. Conclusions The increased risk among never smokers and similar magnitudes of the effect of family history on lung cancer risk across histological types suggests familial aggregation of lung cancer is independent of those associated with cigarette smoking. While the role of genetic variation in the etiology of lung cancer remains to be fully characterized, family history assessment is immediately available and those with a positive history represent a higher risk group. PMID:22436981

No Detrimental Effect of a Positive Family History on Long-Term Outcomes Following Radical Prostatectomy.

PubMed

Brath, Johannes M S; Grill, Sonja; Ankerst, Donna P; Thompson, Ian M; Gschwend, Juergen E; Herkommer, Kathleen

2016-02-01

Overall 1 in 5 patients with prostate cancer has a positive family history. In this report we evaluated the association between family history and long-term outcomes following radical prostatectomy. Patients treated with radical prostatectomy were identified from a German registry, and separated into positive first-degree family history vs negative family history (strictly negative, requiring at least 1 male first-degree relative older than 60 years and no prostate cancer in the family). Kaplan-Meier curves and Cox proportional hazards models were used for association analyses with biochemical recurrence-free and prostate cancer specific survival. Median followup for 7,690 men included in the study was 8.4 years. Of the 754 younger patients less than 55 years old 50.9% (384) had a family history compared to 40.4% of the older patients (2,803; p <0.001). The 10-year biochemical recurrence-free (62.5%) and prostate cancer specific survival (96.1%) rates did not differ between patients with vs without a family history, nor between the younger vs older patient groups (all p >0.05). Prostate specific antigen, pathological stage, node stage and Gleason score were the only significant predictors for biochemical recurrence-free survival, while pathological stage, node stage (all p <0.005) and Gleason score (Gleason 7 vs 6 or less-HR 1.711, 95% CI 1.056-2.774, p = 0.03; Gleason 8 or greater vs 6 or less-HR 4.516, 95% CI 2.776-7.347, p <0.0001) were the only predictors for prostate cancer specific survival. A family history of prostate cancer has no bearing on long-term outcomes after radical prostatectomy. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

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

PubMed

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.

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

PubMed

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.

Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories.

PubMed

Wang, Catharine; Bickmore, Timothy; Bowen, Deborah J; Norkunas, Tricia; Campion, MaryAnn; Cabral, Howard; Winter, Michael; Paasche-Orlow, Michael

2015-10-01

To overcome literacy-related barriers in the collection of electronic family health histories, we developed an animated Virtual Counselor for Knowing your Family History, or VICKY. This study examined the acceptability and accuracy of using VICKY to collect family histories from underserved patients as compared with My Family Health Portrait (MFHP). Participants were recruited from a patient registry at a safety net hospital and randomized to use either VICKY or MFHP. Accuracy was determined by comparing tool-collected histories with those obtained by a genetic counselor. A total of 70 participants completed this study. Participants rated VICKY as easy to use (91%) and easy to follow (92%), would recommend VICKY to others (83%), and were highly satisfied (77%). VICKY identified 86% of first-degree relatives and 42% of second-degree relatives; combined accuracy was 55%. As compared with MFHP, VICKY identified a greater number of health conditions overall (49% with VICKY vs. 31% with MFHP; incidence rate ratio (IRR): 1.59; 95% confidence interval (95% CI): 1.13-2.25; P = 0.008), in particular, hypertension (47 vs. 15%; IRR: 3.18; 95% CI: 1.66-6.10; P = 0.001) and type 2 diabetes (54 vs. 22%; IRR: 2.47; 95% CI: 1.33-4.60; P = 0.004). These results demonstrate that technological support for documenting family history risks can be highly accepted, feasible, and effective.

Family History of Sudden Cardiac Death of the Young: Prevalence and Associated Factors

PubMed Central

White, Michelle J.; Duquette, Debra; Bach, Janice; Rafferty, Ann P.; Fussman, Chris; Sharangpani, Ruta; Russell, Mark W.

2015-01-01

Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly obtained during routine health maintenance visits. To estimate the proportion of adults with a family history of SCDY, the Michigan Department of Health and Human Services (MDHHS) Genomics Program included two questions within the 2007 Michigan Behavioral Risk Factor Survey (MiBRFS). Prevalence estimates and 95% confidence intervals were calculated. Among adults in Michigan, 6.3% reported a family history of SCDY, with a greater prevalence among blacks, those with lower household income, and those with less education. Among those reporting a family history of SCDY, 42.3% had at least one first-degree relative and 26.2% had multiple affected family members. This is the first study to demonstrate the prevalence of family history of SCDY while also highlighting key sociodemographic characteristics associated with increased prevalence. These findings should guide evidence-based interventions to reach those at greatest risk. PMID:27417815

Fifteen percent of myocardial infarctions and coronary revascularizations explained by family history unrelated to conventional risk factors. The Reykjavik Cohort Study.

PubMed

Andresdottir, M B; Sigurdsson, G; Sigvaldason, H; Gudnason, V

2002-11-01

Aims To examine the relationship between history of myocardial infarction in first-degree relatives and the risk of developing coronary heart disease (myocardial infarction or coronary revascularization). Methods and Results A total of 9328 males and 10062 females, randomly selected residents of the Reykjavik area, aged 33-81 years, were examined in the period from 1967 to 1996 in a prospective cohort study. Cardiovascular risk assessment was based on characteristics at baseline. Information on history of myocardial infarction in first-degree relatives was obtained from a health questionnaire. Mean follow-up was 18 and 19 years for men and women, respectively. During follow-up 2700 men and 1070 women developed coronary heart disease. Compared with subjects without a family history, the hazard ratio of coronary heart disease was 1.75 (95% confidence interval, CI, 1.59-1.92) for men and 1.83 (95% CI, 1.60-2.11) for women, with one or more first-degree relatives with myocardial infarction. The risk factor profile was significantly worse in individuals with a positive family history. After allowance for these risk factors, the hazard ratio was still highly significant, 1.66 (CI, 1.51-1.82) and 1.64 (CI, 1.43-1.89) for men and women, respectively. Family history of myocardial infarction was attributed to 15.1% of all cases of coronary heart disease in men and 16.6% in women, independent of other known risk factors. Conclusion Family history of myocardial infarction increases the risk of developing coronary heart disease in both men and women and is largely independent of other classic risk factors. Approximately 15% of all myocardial infarctions can be attributed to familial factors that have not been measured in the study or remain to be elucidated. Copyright 2002 The European Society of Cardiology. Published by Elsevier Science Ltd. All rights reserved.

Population estimates of extended family structure and size.

PubMed

Garceau, Anne; Wideroff, Louise; McNeel, Timothy; Dunn, Marsha; Graubard, Barry I

2008-01-01

Population-based estimates of biological family size can be useful for planning genetic studies, assessing how distributions of relatives affect disease associations with family history and estimating prevalence of potential family support. Mean family size per person is estimated from a population-based telephone survey (n = 1,019). After multivariate adjustment for demographic variables, older and non-White respondents reported greater mean numbers of total, first- and second-degree relatives. Females reported more total and first-degree relatives, while less educated respondents reported more second-degree relatives. Demographic differences in family size have implications for genetic research. Therefore, periodic collection of family structure data in representative populations would be useful. Copyright 2008 S. Karger AG, Basel.

Association of a Family History of Atrial Fibrillation With Incidence and Outcomes of Atrial Fibrillation: A Population-Based Family Cohort Study.

PubMed

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 similar MACE-free survival. Genetic and environmental factors were associated with AF, with nonshared environmental factors accounting for three-fourths of the phenotypic variance in Taiwan. Patients having AF with a first-degree relative affected by AF did not have more MACE. Therefore, family history may not be particularly informative in the diagnosis or management of AF.

Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium.

PubMed

Coté, Michele L; Liu, Mei; Bonassi, Stefano; Neri, Monica; Schwartz, Ann G; Christiani, David C; Spitz, Margaret R; Muscat, Joshua E; Rennert, Gad; Aben, Katja K; Andrew, Angeline S; Bencko, Vladimir; Bickeböller, Heike; Boffetta, Paolo; Brennan, Paul; Brenner, Hermann; Duell, Eric J; Fabianova, Eleonora; Field, John K; Foretova, Lenka; Friis, Søren; Harris, Curtis C; Holcatova, Ivana; Hong, Yun-Chul; Isla, Dolores; Janout, Vladimir; Kiemeney, Lambertus A; Kiyohara, Chikako; Lan, Qing; Lazarus, Philip; Lissowska, Jolanta; Le Marchand, Loic; Mates, Dana; Matsuo, Keitaro; Mayordomo, Jose I; McLaughlin, John R; Morgenstern, Hal; Müeller, Heiko; Orlow, Irene; Park, Bernard J; Pinchev, Mila; Raji, Olaide Y; Rennert, Hedy S; Rudnai, Peter; Seow, Adeline; Stucker, Isabelle; Szeszenia-Dabrowska, Neonila; Dawn Teare, M; Tjønnelan, Anne; Ugolini, Donatella; van der Heijden, Henricus F M; Wichmann, Erich; Wiencke, John K; Woll, Penella J; Yang, Ping; Zaridze, David; Zhang, Zuo-Feng; Etzel, Carol J; Hung, Rayjean J

2012-09-01

Familial aggregation of lung cancer exists after accounting for cigarette smoking. However, the extent to which family history affects risk by smoking status, histology, relative type and ethnicity is not well described. This pooled analysis included 24 case-control studies in the International Lung Cancer Consortium. Each study collected age of onset/interview, gender, race/ethnicity, cigarette smoking, histology and first-degree family history of lung cancer. Data from 24,380 lung cancer cases and 23,305 healthy controls were analysed. Unconditional logistic regression models and generalised estimating equations were used to estimate odds ratios and 95% confidence intervals. Individuals with a first-degree relative with lung cancer had a 1.51-fold increase in the risk of lung cancer, after adjustment for smoking and other potential confounders (95% CI: 1.39, 1.63). The association was strongest for those with a family history in a sibling, after adjustment (odds ratios (OR) = 1.82, 95% CI: 1.62, 2.05). No modifying effect by histologic type was found. Never smokers showed a lower association with positive familial history of lung cancer (OR = 1.25, 95% CI: 1.03, 1.52), slightly stronger for those with an affected sibling (OR = 1.44, 95% CI: 1.07, 1.93), after adjustment. The occurrence of lung cancer among never smokers and similar magnitudes of the effect of family history on lung cancer risk across histological types suggests familial aggregation of lung cancer is independent of those risks associated with cigarette smoking. While the role of genetic variation in the aetiology of lung cancer remains to be fully characterised, family history assessment is immediately available and those with a positive history represent a higher risk group. Copyright © 2012 Elsevier Ltd. All rights reserved.

Real-Life Spatial Skills, Handedness, and Family History of Handedness

ERIC Educational Resources Information Center

Ecuyer-Dab, I.; Tremblay, T.; Joanette, Y.; Passini, R.

2005-01-01

According to Annett (1985), pronounced left hemisphere lateralization for language abilities in women, as in female absolute right-handers, limits their right hemisphere capacity and spatial abilities. This study examines the degree of handedness and the family history of non-right-handedness with respect to real-life spatial abilities in women.…

Endometrial cancer and a family history of cancer.

PubMed

Cook, Linda S; Nelson, Harold E; Stidley, Christine A; Dong, Yan; Round, Pamela J; Amankwah, Ernest K; Magliocco, Anthony M; Friedenreich, Christine M

2013-08-01

Lynch Syndrome (LS), an inherited genetic syndrome, predisposes to cancers such as colorectal and endometrial. However, the risk for endometrial cancer (EC) in women not affected by LS, but with a family history of cancer, is currently unknown. We examined the association between a family history of cancer and the risk for EC in non-LS patients. This population-based case-control study included 519 EC cases and 1015 age-matched controls and took place in Alberta, Canada between 2002 and 2006. Information about risk factors, including family history of cancer in first and second degree relatives, was ascertained via in-person interviews. Microsatellite instability (MSI) status of tumor tissue was assessed to determine involvement of DNA mismatch repair (MMR) genes. A first or second degree family history of uterine cancer was modestly associated with the risk for overall EC [odds ratio (OR), 1.3; 95% confidence interval (CI), 0.9, 1.9], and the risks were similar for MSI+cancer (OR=1.5, 95%CI=0.7, 3.3) and MSI- cancer (OR=1.3, 95%CI=0.8, 2.4). Although consistent, these associations were modest and not significant. In contrast, the risk for MSI+cancer was elevated with a reported family history of colorectal cancer (OR=1.4, 95%CI=1.0, 2.2), but not for MSI- cancer. A family history of uterine cancer may be modestly associated with EC risk in non-LS patients regardless of MSI status, suggesting that risk was not related to inherited defects in the MMR gene pathway. These results provide preliminary support for an EC-specific genetic syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

To what extent is the familial risk of rheumatoid arthritis explained by established rheumatoid arthritis risk factors?

PubMed

Jiang, Xia; Frisell, Thomas; Askling, Johan; Karlson, Elizabeth W; Klareskog, Lars; Alfredsson, Lars; Källberg, Henrik

2015-02-01

Family history of rheumatoid arthritis (RA) is one of the strongest risk factors for developing RA, and information on family history is, therefore, routinely collected in clinical practice. However, as more genetic and environmental risk factors shared by relatives are identified, the importance of family history may diminish. The aim of this study was to determine how much of the familial risk of RA can be explained by established genetic and nongenetic risk factors. History of RA among first-degree relatives of individuals in the Epidemiological Investigation of Rheumatoid Arthritis case-control study was assessed through linkage to the Swedish Multigeneration Register and the Swedish Patient Register. We used logistic regression models to investigate the decrease in familial risk after successive adjustment for combinations of nongenetic risk factors (smoking, alcohol intake, parity, silica exposure, body mass index, fatty fish consumption, and education), and genetic risk factors (shared epitope [SE] and 76 single-nucleotide polymorphisms [SNPs]). Established nongenetic risk factors did not explain familial risk of either seropositive or seronegative RA to any significant degree. Genetic risk factors accounted for a limited proportion of the familial risk of seropositive RA (unadjusted odds ratio [OR] 4.10, SE-adjusted OR 3.72, SNP-adjusted OR 3.46, and SE and SNP-adjusted OR 3.35). Established risk factors only provided an explanation for familial risk of RA in minor part, suggesting that many (familial) risk factors remain to be identified, in particular for seronegative RA. Family history of RA therefore remains an important clinical risk factor for RA, the value of which has not yet been superseded by other information. There is thus a need for further etiologic studies of both seropositive and seronegative RA. Copyright © 2015 by the American College of Rheumatology.

Higher levels of central adiposity in healthy premenopausal women with family histories of premenopausal breast cancer.

PubMed

Dettenborn, Lucia; James, Gary D; Britton, Julie A; Bovbjerg, Dana H

2008-01-01

Research strongly suggests that lower overall adiposity and higher central adiposity are independent risk factors for premenopausal breast cancer in the general population. We aimed to test the possibility that these factors may contribute to familial risk of premenopausal breast cancer. A convenience sample of healthy women, ages 25-49, was recruited to yield three study groups: (1) Women with first-degree family histories of premenopausal breast cancer, operationally defined as being diagnosed prior to age 50 (Group FH < 50, n = 39); (2) Women with first-degree family histories of postmenopausal breast cancer, operationally defined as being diagnosed at age 50 or after (Group FH > or = 50, n = 33); and (3) Women without a history of breast cancer in first-degree relatives (Group FH-, n = 132). Multinomial logistic regression analyses, including possible confounders, waist circumference, and BMI, revealed a lower BMI among FH < 50 compared to either FH- (OR = 0.72; 95% CI = 0.59-0.87), or FH > or = 50 women (OR = 0.75; 95% CI = 0.60-0.95), and higher waist circumferences in FH < 50 compared to either FH- (OR = 1.15; 95% CI = 1.06-1.25), or FH > or = 50 women (OR = 1.16; 95% CI = 1.05-1.28). No group differences were seen for waist skinfold measures. These results support the possibility that differences in patterns of adiposity may contribute to familial risk of premenopausal breast cancer, and suggest the importance of conducting large scale, population-based studies of the link between body size characteristics and familial breast cancer risk.

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

PubMed

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.

Prognostic impact of EGFR mutation in non-small-cell lung cancer patients with family history of lung cancer.

PubMed

Kim, Jung Soo; Cho, Min Seong; Nam, Jong Hyeon; Kim, Hyun-Jung; Choi, Kyeng-Won; Ryu, Jeong-Seon

2017-01-01

A family history can be a valuable tool in the era of precision medicine. Although a few studies have described an association of family history of lung cancer with EGFR activating mutation, their impact on survival of lung cancer patients is unclear. The study included consecutive 829 non-small-cell lung cancer patients who received analysis of EGFR mutation in a prospective lung cancer cohort. Family history of lung cancer was obtained by face-to-face interviews at the time of diagnosis. An association of EGFR activating mutation with a family history of lung cancer in first-degree relatives was evaluated with multivariate logistic regression analysis, and its association with survival was estimated with Cox's proportional hazards model. Seventy five (9.0%) patients had family history of lung cancer. The EGFR mutation was commonly observed in patients with positive family history compared to those with no family history (46.7% v 31.3%, χ2 p = 0.007). The family history was significantly associated with the EGFR mutation (aOR and 95% CI: 2.01 and 1.18-3.60, p = 0.011). Patients with the positive family history survived longer compared to those without (MST, 17.9 v 13.0 months, log-rank p = 0.037). The presence of the EGFR mutation was associated with better survival in patients without the family history (aHR and 95% CI: 0.72 and 0.57-0.90, p = 0.005). However, this prognostic impact was not observed in patients with the positive family history (aHR and 95% CI: 1.01 and 0.50-2.36, p = 0.832). In comparison to patients without the family history, EGFR activating mutation was common, and it did not affect prognosis in patients with positive family history.

Impact of family history of cancer on the incidence of mutation in epidermal growth factor receptor gene in non-small cell lung cancer patients.

PubMed

He, Yayi; Li, Shuai; Ren, Shengxiang; Cai, Weijing; Li, Xuefei; Zhao, Chao; Li, Jiayu; Chen, Xiaoxia; Gao, Guanghui; Li, Wei; Zhou, Fei; Zhou, Caicun

2013-08-01

Epidermal growth factor receptor (EGFR) activating mutation is an important predictive biomarker of EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC), while family history of cancer also plays an important role in the neoplasia of lung cancer. This study aimed to investigate the association between family history of cancer and EGFR mutation status in NSCLC population. From February 2008 to May 2012, 538 consecutive NSCLC patients with known EGFR mutation status were included into this study. Amplification refractory mutation system (ARMS) method was used to detect EGFR mutation. The associations between EGFR mutation and family history of cancer were evaluated using logistic regression models. EGFR activating mutation was found in 220 patients and 117 patients had family cancer histories among first-degree relatives. EGFR mutation was more frequently detected in adenocarcinoma patients (p < 0.001), never-smoker (p < 0.001) and with family history of cancer (p = 0.031), especially who had family history of lung cancer (p = 0.008). In multivariate analysis, the association of EGFR mutation with family history of cancer also existed (p = 0.027). NSCLC patients with family history of cancer, especially family history of lung cancer, might have a significantly higher incidence of EGFR activating mutation. Crown Copyright © 2013. Published by Elsevier Ireland Ltd. All rights reserved.

Personal attributions for melanoma risk in melanoma-affected patients and family members

PubMed Central

Hay, Jennifer; DiBonaventura, Marco; Baser, Raymond; Press, Nancy; Shoveller, Jeanne; Bowen, Deborah

2010-01-01

Personal attributions for cancer risk involve factors that individuals believe contribute to their risk for developing cancer. Understanding personal risk attributions for melanoma may dictate gene-environment melanoma risk communication strategies. We examined attributions for melanoma risk in a population-based sample of melanoma survivors, first degree family members, and family members who are also parents (N=939). We conducted qualitative examination of open-ended risk attributions and logistic regression examining predictors (demographics, family member type, perceived risk) of the attributions reported (ultraviolet radiation [UVR] exposure, heredity/genetics, phenotype, personal melanoma history, miscellaneous). We found a predominance of risk attributions to UVR and heredity/genetics (80% and 45% of the sample, respectively). Those reporting higher education levels were more likely to endorse attributions to heredity/genetics, as well as to phenotype, than those of lower education levels. First-degree relatives and parent family members were more likely to endorse heredity/genetic attributions than melanoma survivors; melanoma survivors were more likely to endorse personal history of melanoma attributions compared to first-degree relatives and parent family members. These findings inform the development of risk communication interventions for melanoma families. PMID:20809355

BRCA 1 & 2 mutations in Sudanese secondary school girls with known breast cancer in their families

PubMed Central

Elnour, Ahmed M; Elderdery, Abozer Y; Mills, Jeremy; Mohammed, Babiker A; ElbietAbdelaal, Daw; Mohamed, Abdelraheem Osman; Elhassan, Kamal Eldin H; A, Abdel Hady; Wahab, Abdel; Cooper, Alan

2012-01-01

Objective Breast cancer is a major cause of morbidity and mortality in women worldwide. In Sudan, it is the most commonly diagnosed cancer. This study assesses the prevalence of BRCA1 and BRCA2 mutations among female students with a family history of breast cancer, in secondary schools of Marawi Locality, Northern State, Sudan. Methods From a survey of 2370 students, 67 cases (47 with family history and 20 controls) were analyzed for BRCA1 and BRCA2 mutations with a single-stranded conformation polymorphism (SSCP) mutation detection method applied to peripheral blood. Eighteen subjects knew of first degree female relatives with breast cancer, 23 with second degree female family members affected and 6 with related male sufferers. Twenty randomly selected girls from the remainder of the survey population with no known family history were also tested. Results The breast cancer susceptibility genes BRCA1 and BRCA2 accounted, respectively, for 1.21% of responders or 51% of those claiming a family history. Mutations were found in 20% of the group selected with no family history. Only 2 BRCA 2 mutations were found, both in girls with no known afflicted relatives. Six girls knew of male relatives with breast cancer; five of these girls carried mutant BRCA 1. Most of the BRCA1- mutations located to exon 11 fragments 11.9 and 11.1. Conclusion The study indicates a high prevalence of genetically associated breast cancer in the Marawi locality suggesting a need to focus on the two mutation sites in developing screening protocols for at least this area of Sudan. PMID:23267305

Chinese lupus treatment and research group (CSTAR) registry: X. family history in relation to lupus clinical and immunological manifestations.

PubMed

Leng, Xiaomei; Li, Mengtao; Li, Xiangpei; Zhang, Xiao; Liu, Shengyun; Wu, Lijun; Ma, Li; Bi, Liqi; Zuo, Xiaoxia; Sun, Lingyun; Huang, Cibo; Zhao, Jiuliang; Zhao, Yan; Zeng, Xiaofeng

2018-01-01

This study aimed to examine the associations between family history and clinical manifestations and immunologic characteristics of lupus in China. Based on their family history, lupus patients from the Chinese lupus treatment and research group (CSTAR) registry were categorised: familial lupus (FL), family history of other rheumatic disorders (RD), and sporadic lupus (SL). Demographic data, clinical manifestations, and laboratory data were compared among these three groups. A total of 2,104 patients from CSTAR were included, with 34 (1.6%) in the FL group, 50 (2.4%) in the RD group, and 2,020 (96.0%) in the SL group. There were no significant differences in age or gender among these groups (p=0.36 and p=0.75, respectively). The prevalence of discoid rash and positivity of anti-RNP antibodies differed significantly among the three groups. Photosensitivity and neurological disorder were marginally significantly different among the three groups (p=0.05). No statistical differences were observed in other clinical manifestations or laboratory results. In the FL group, first-degree relatives (25/34, 73.5%) had higher susceptibility to lupus. Rheumatoid arthritis (RA) (35/50, 70.0%) was the most frequent non-lupus rheumatic disorder in the RD group. Among lupus patients, the rate of familial lupus was lower in Chinese patients than among other ethnicities. Familial lupus cases are found mainly among their first-degree relatives. A family history of lupus did not significantly affect clinical phenotypes, except for higher frequency of discoid rash and anti-RNP in the FL group, and more anti-RNP positivity in the RD group.

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

PubMed

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, p<0.001), and shorter exposure years per AoD event (18.3±6.7 vs 43.1±8.5, p<0.001). Annual probability of AoD per first-degree relative was 2.77 times higher in patients with positive than negative FHADs (0.0100±0.0057 vs 0.0036±0.0014, p<0.001). A positive FHAD confers a significantly increased risk of developing aortic dissection on family 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.

Family history of stroke and severity of neurologic deficit after stroke

PubMed Central

Case, L.D.; Worrall, B.B.; Brown, R.D.; Brott, T.G.; Frankel, M.; Silliman, S.; Rich, S.S.

2008-01-01

Background A family history of stroke is an independent risk factor for stroke. Objective To assess whether severity of neurologic deficit after stroke is associated with a family history of stroke. Methods The Ischemic Stroke Genetics Study, a five-center study of first-ever symptomatic ischemic stroke, assessed case subjects prospectively for a family history of stroke-affected first-degree relatives. Certified adjudicators used the NIH Stroke Scale (NIHSS) to determine the severity of neurologic deficit. Results A total of 505 case subjects were enrolled (median age, 65 years; 55% male), with 81% enrolled within 1 week of onset of symptoms. A sibling history of stroke was associated with more severe stroke. The odds of an NIHSS score of 5 or higher were 2.0 times greater for cases with a sibling history of stroke compared with cases with no sibling history (95% CI, 1.0 to 3.9). An association of family history of stroke in parents or children with stroke severity was not detected. Conclusions A sibling history of stroke increased the likelihood of a more severe stroke in the case subjects, independent of age, sex, and other potential confounding factors. Other family history characteristics were not associated with stroke severity. PMID:17060565

Collection of family health history for assessment of chronic disease risk in primary care.

PubMed

Powell, Karen P; Christianson, Carol A; Hahn, Susan E; Dave, Gaurav; Evans, Leslie R; Blanton, Susan H; Hauser, Elizabeth; Agbaje, Astrid; Orlando, Lori A; Ginsburg, Geoffrey S; Henrich, Vincent C

2013-01-01

Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care. Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk. More than 99% of the 390 paper charts analyzed contained information about family health history, which was usually scattered throughout the chart. Information on the health of the patient's parents was collected more often than information on the health of other relatives. Key information that was often not collected included age of disease onset, affected side of the family, and second-degree relatives affected. Less than 4% of patient charts included family health histories that were informative enough to accurately assess risk for common complex diseases. Limitations of this study include the small number of charts reviewed per provider, the fact that the sample consisted of primary care providers in a single geographic location, and the inability to assess ethnicity, consanguinity, and other indicators of the informativeness of family health history. The family health histories collected in primary care are usually not complete enough to assess the patient's risk for common complex diseases. This situation could be improved with use of tools that analyze the family health history information collected and provide risk-stratified decision support recommendations for primary care.

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

PubMed

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.

Use of Family History Information for Neural Tube Defect Prevention: Integration into State-Based Recurrence Prevention Programs

ERIC Educational Resources Information Center

Green, Ridgely Fisk; Ehrhardt, Joan; Ruttenber, Margaret F.; Olney, Richard S.

2011-01-01

A family history of neural tube defects (NTDs) can increase the risk of a pregnancy affected by an NTD. Periconceptional folic acid use decreases this risk. Purpose: Our objective was to determine whether second-degree relatives of NTD-affected children showed differences in folic acid use compared with the general population and to provide them…

Familial clustering in subgroups of gastric cancer stratified by histology, age group and location.

PubMed

Eto, K; Ohyama, S; Yamaguchi, T; Wada, T; Suzuki, Y; Mitsumori, N; Kashiwagi, H; Anazawa, S; Yanaga, K; Urashima, M

2006-09-01

To assess the risk of gastric cancer in a Japanese patient population with the disease by stratification with histology, age, tumour location and the association with family history of gastric or non-gastric tumours. A retrospective analysis of 1400 consecutive patients with gastric cancer and 13,467 age- and gender-matched controls from a pre-recorded database using conditional logistic regression models. Young patients (< or = 43 years of age) with gastric cancer of intestinal type had a strong association with family history of gastric cancer in first degree-relatives (OR=12.5). Moreover, when a history of gastric cancer was observed in both parents, there was an increased risk of gastric cancer intestinal type (OR=7.8), more commonly in the proximal and mid-stomach. In contrast, there was an increased risk of diffuse-type cancer when both parents suffered non-gastric cancers (OR=2.1). These data suggest that the degree of familial clustering differ in gastric cancer subgroups stratified by histology, age, and stomach location in this Japanese population.

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

PubMed

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.

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

PubMed Central

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

2015-01-01

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 to 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. PMID:25788123

Association between N142D genetic polymorphism of GSTO2 and susceptibility to colorectal cancer.

PubMed

Masoudi, Mohammad; Saadat, Iraj; Omidvari, Shahpour; Saadat, Mostafa

2011-10-01

Expression pattern analysis has been revealed that glutathione S-transferase omega 2 (GSTO2, a member of class omega) is ubiquitously expressed. Over expression of GSTO2 induced apoptosis. The gene encoding GSTO2 was localized to human chromosome 10q24.3, a region that may harbor gene(s) involved in the developing of colorectal cancer. To investigate the association between GSTO2 N142D genetic polymorphism and susceptibility to colorectal cancer the present study was done. We studied 63 (26 females, 37 males) colorectal cancer patients and 126 (52 females, 74 males) healthy individuals. The control subjects were frequency matched for age and gender with the colorectal cancer group. The genotypes were performed using RFLP-PCR method. The ND and DD genotypes were not associated with risk of colorectal cancer, in comparison with the NN genotype. Family history for cancer in the first degree of relatives significantly differed between cases and controls (P = 0.012). The profiles of GSTO2 genotypes and family history in control and cancerous groups were compared to each other. Subjects with NN genotype and positive family history significantly were at high risk to develop colorectal cancer in comparison with subjects with DD or ND genotypes and negative family history (P = 0.003). Present findings indicating that GSTO2 NN genotype increase the risk of colorectal cancer in persons with positive family history for cancer in the first degree relatives.

CT Colonographic Screening of Patients With a Family History of Colorectal Cancer: Comparison With Adults at Average Risk and Implications for Guidelines.

PubMed

Pickhardt, Perry J; Mbah, Ifeanyi; Pooler, B Dustin; Chen, Oliver T; Hinshaw, J Louis; Weiss, Jennifer M; Kim, David H

2017-04-01

The purposes of this study were to compare rates of lesion detection at CT colonographic (CTC) screening of adults without symptoms who had and who did not have a family history of colorectal cancer according to American Cancer Society guidelines and to consider the clinical implications. Over 134 months, consecutively registered CTC cohorts of adults without symptoms who had (n = 156; 88 [56.4%] women; 68 [43.6%] men; mean age, 56.3 years) and who did not have (n = 8857; 4757 [53.7%] women; 4100 [46.3%] men; mean age, 56.6 years) an American Cancer Society-defined family history of colorectal cancer (first-degree relative with diagnosis before age 60 years or two first-degree relatives with diagnosis at any age) were compared for relevant colorectal findings. For the family history versus no family history cohorts, the frequency of all nondiminutive polyps (≥ 6 mm) reported at CTC was 23.7% versus 15.5% (p = 0.007); small polyps (6-9 mm), 13.5% versus 9.1% (p = 0.068); and large polyps (≥ 10 mm), 10.2% versus 6.5% (p = 0.068). The rate of referral for colonoscopy was greater for the family history cohort (16.0% vs 10.5%; p = 0.035). However, the frequencies of proven advanced adenoma (4.5% vs 3.2%; p = 0.357), nonadvanced adenoma (5.1% vs 2.6%; p = 0.070), and cancer (0.0% vs 0.4%; p = 0.999) were not significantly increased. The difference in positive rates between the two cohorts (11.5% vs 4.3%; p < 0.001) was primarily due to nonneoplastic findings of no colorectal cancer relevance, such as small hyperplastic polyps, diverticular disease, and false-positive CTC findings. Although the overall CTC-positive and colonoscopy referral rates were higher in the family history cohort, the clinically relevant frequencies of advanced neoplasia and cancer were not sufficiently increased to preclude CTC screening. These findings support the use of CTC as a front-line screening option in adults with a family history of colorectal cancer.

Subclinical Tremor in Normal Controls with vs. without a Family History of Essential Tremor: Data from the United States and Turkey

PubMed Central

Louis, Elan D.; Dogu, Okan; Ottman, Ruth

2009-01-01

Background Mild action tremor is very common in the population. One fundamental question is whether this tremor is related to the neurological disease essential tremor (ET), which occurs in a much smaller segment of the population? ET is often genetic and variable phenotypic expression is well-documented in the literature. We determined whether normal controls who report a family history of ET have greater action tremor than normal controls who do not report such a history. Methods Controls, enrolled in two epidemiological studies (New York and Turkey), were examined in detail and action tremor was rated using a valid and reliable clinical rating scale, resulting in a total tremor score (range 0 – 36). Results In New York, the total tremor score was higher in 44/406 (10.8%) controls who reported a family history of ET than in 362/406 controls with no such history (4.25 ± 2.51 vs. 3.78 ± 2.93, p = 0.02). Controls who reported a first-degree relative with ET had the highest total tremor scores. In Turkey, the total tremor score was higher in 7/89 (7.9%) controls with a family history than in 82/89 controls with no family history (3.43 ± 4.54 vs. 1.13 ± 2.54, p = 0.048). All affected relatives in Turkey were first-degree. Conclusions These data suggest that some of the normal tremor exhibited by people in the population is likely to be subclinical, partially-expressed ET and that the sphere of ET is wider than is apparent from a consideration of clinically-diagnosed cases. PMID:19968704

Consanguinity and epilepsy in Oran, Algeria: A case-control study.

PubMed

Chentouf, Amina; Talhi, Randa; Dahdouh, Aicha; Benbihi, Latifa; Benilha, Soumia; Oubaiche, Mohand Laid; Chaouch, Malika

2015-03-01

The goal of this case-control study was to identify the significance of consanguinity and other risk factors for epilepsy in Oran, Algeria. Unrelated epileptic patients upwards of 16 years, who attended the Neurology Department between October 2013 and March 2014 were included in the study. Controls, matched for age and sex, were selected among non-epileptic patients attending the same department during the same period. The risk factors evaluated were: consanguinity, family history of epilepsy, perinatal complications, infection of the central nervous system, mental retardation, neurological impairment, history of febrile seizures, severe head trauma, cerebrovascular diseases, and addiction. 101 cases and 202 controls participated in the study. Multivariate logistic regression identified five factors significantly associated with epilepsy: first-degree of consanguinity (odds ratio (OR)=2.15), history of epilepsy in first-degree relatives (OR=4.03), antecedent of febrile seizures (OR=5.38), severe head injury (OR=2.94) and mental retardation (OR=9.32). Consanguinity, family history of epilepsy, history of febrile seizures, severe head trauma and mental retardation are risk factors for epilepsy. The implementation of a strategy for prevention and awareness of the impact of consanguineous marriages as well as genetic counseling for couples with a family history of epilepsy are needed. Copyright © 2015 Elsevier B.V. All rights reserved.

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

PubMed

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.

Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

PubMed

Tse, Lap Ah; Li, Mengjie; Chan, Wing-cheong; Kwok, Chi-hei; Leung, Siu-lan; Wu, Cherry; Yu, Ignatius Tak-sun; Yu, Wai-cho; Lao, Xiangqian; Wang, Xiaorong; Wong, Carmen Ka-man; Lee, Priscilla Ming-yi; Wang, Feng; Yang, Xiaohong Rose

2015-01-01

The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+) type. Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings) were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age) and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated. Altogether 52 (6.96%) breast cancer cases and 23 (2.95%) controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR) of 2.41 (95%CI: 1.45-4.02). An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28), with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79) than an affected sister (OR = 2.06, 95%CI: 1.07-3.97), while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives. This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

Familial Risks and Estrogen Receptor-Positive Breast Cancer in Hong Kong Chinese Women

PubMed Central

Chan, Wing-cheong; Kwok, Chi-hei; Leung, Siu-lan; Wu, Cherry; Yu, Ignatius Tak-sun; Yu, Wai-cho; Lao, Xiangqian; Wang, Xiaorong; Wong, Carmen Ka-man; Lee, Priscilla Ming-yi; Wang, Feng; Yang, Xiaohong Rose

2015-01-01

Purpose The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+) type. Methods Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings) were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age) and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated. Results Altogether 52 (6.96%) breast cancer cases and 23 (2.95%) controls was found that the patients’ one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR) of 2.41 (95%CI: 1.45–4.02). An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38–4.28), with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46–10.79) than an affected sister (OR = 2.06, 95%CI: 1.07–3.97), while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives. Conclusions This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired. PMID:25756203

Family history does not predict angiographic localization or severity of coronary artery disease.

PubMed

Banerjee, Amitava; Lim, Chris C S; Silver, Louise E; Heneghan, Carl; Welch, Sarah J V; Mehta, Ziyah; Banning, Adrian P; Rothwell, Peter M

2012-04-01

Family history of MI is an established risk factor for coronary artery disease and subclinical atherosclerosis. Maternal MI and maternal stroke are more common in females than males presenting with acute coronary syndromes (ACS), suggesting sex-specific heritability, but the effects of family history on location and extent of coronary artery disease are unknown. In a prospective, population-based study (Oxford Vascular Study) of all patients with ACS, family history data for stroke and MI were analysed by sex of proband and affected first degree relatives (FDRs), and coronary angiograms were reviewed, where available. Of 835 probands with one or more ACS, 623 (420 males) had incident events and complete family history data. 351 patients with incident events (56.3%; 266 males) underwent coronary angiography. Neither angiographic disease localization nor severity were associated with sex-of-parent/sex-of-offspring in men or women. Sex-specific family history data do not predict angiographic localization of coronary disease in patients presenting with ACS. Maternal stroke and maternal MI probably affect ACS in females by a mechanism unrelated to atherosclerosis or coronary anatomy. However, family history data may still be useful in risk prediction and prognosis of ACS. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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

PubMed

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 histories of stuttering. Finding that a relatively high proportion (i.e., 81.5%) of caregivers consistently reported a positive or negative family history of stuttering across three consecutive time points should provide some degree of assurance to those who collect such caregiver reports. Based on such consistent caregiver reports, linguistic as well as attentional vulnerabilities appear associated with a positive family history of stuttering, a finding that must await further empirical study for confirmation or refutation. Published by Elsevier Inc.

Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status.

PubMed

Phipps, Amanda I; Ahnen, Dennis J; Campbell, Peter T; Win, Aung Ko; Jenkins, Mark A; Lindor, Noralane M; Gryfe, Robert; Potter, John D; Newcomb, Polly A

2014-08-01

Individuals with a family history of colorectal cancer in first-degree relatives have an elevated risk of developing colorectal cancer themselves, particularly colorectal cancer exhibiting high microsatellite instability (MSI-high). Given that MSI-high colorectal cancer is associated with a favorable prognosis, it is plausible that having a family history of colorectal cancer could, in turn, be favorably associated with colorectal cancer survival. This study comprised N = 4,284 incident colorectal cancer cases enrolled in the Colon Cancer Family Registry via population-based cancer registries. Using Cox proportional hazards regression, we evaluated the association between family history and both overall and disease-specific survival, accounting for MSI status and tumor site via stratified analyses and statistical adjustment. There was no evidence of association between family history and overall [hazard ratio (HR), 0.92; 95% confidence interval (CI), 0.79-1.08] or disease-specific survival (HR, 1.03; 95% CI, 0.85-1.24) for all cases combined, after adjustment for MSI status or tumor site. Only for rectal cancer cases was colorectal cancer family history modestly associated with more favorable overall survival (HR, 0.75; 95% CI, 0.56-0.99). Although individuals with a family history of colorectal cancer were more likely to have MSI-high tumors than those with nonfamilial disease, this did not translate to a survival benefit. Overall, there is no evidence that family history of colorectal cancer is associated with colorectal cancer survival; however, specific mechanisms underlying family history may have prognostic impact and merit further study. ©2014 American Association for Cancer Research.

Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

PubMed

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.

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

PubMed

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.

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

PubMed

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 © 2012 Elsevier Inc. All rights reserved.

Today's Families: Continuity, Change and Challenge. Keynote address on the Occasion of the 50th Anniversary of the Canadian Home Economics Association.

ERIC Educational Resources Information Center

Glossop, Robert

Canadian families differ from one another to the degree that it is now customary for researchers, helping professionals, teachers, and others to declare their interest in families, not "the family." The proliferation of different family forms has led some, who disregard the fact that the traditional family has had a very brief history,…

Family history of stroke is potentially associated with arterial stiffness in the Japanese population.

PubMed

Uemura, Hirokazu; Katsuura-Kamano, Sakurako; Yamaguchi, Miwa; Nakamoto, Mariko; Hiyoshi, Mineyoshi; Arisawa, Kokichi

2014-12-01

Studies on the association between family history of cardiovascular disease and arterial stiffness are rare. This study evaluated the possible relationship between family history of cardiovascular disease and arterial stiffness in the Japanese population, by measuring brachial-ankle pulse wave velocity (ba-PWV). A total of 1004 eligible subjects (664 men and 340 women) aged 35-69 years, who were enrolled in the baseline survey of a cohort study in Tokushima Prefecture (Japan) and who underwent ba-PWV measurement, were analysed. Information about their lifestyle characteristics and first-degree family histories of ischaemic heart disease (i.e. myocardial infarction or angina pectoris), stroke or hypertension were obtained from a structural self-administered questionnaire. Subjects of both sexes with a family history of stroke showed significantly higher multivariable-adjusted means of ba-PWV than those without that trait (P values were 0.001 in men and 0.002 in women), while those with a family history of ischaemic heart disease did not. Subjects of both sexes with a family history of hypertension showed significantly higher age-adjusted means of ba-PWV than those without that trait, although these differences disappeared after further adjusting for blood pressure or multivariable covariates. When family histories of these diseases were inserted simultaneously into the same model, these results did not alter substantially. A family history of stroke might be associated with increased arterial stiffness, independent of other known atherosclerotic risk factors, including hypertensive elements, in both sexes in the Japanese population. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Inter-informant agreement and prevalence estimates for mood syndromes: direct interview vs. family history method.

PubMed

Vandeleur, C L; Rothen, S; Lustenberger, Y; Glaus, J; Castelao, E; Preisig, M

2015-01-15

The use of the family history method is recommended in family studies as a type of proxy interview of non-participating relatives. However, using different sources of information can result in bias as direct interviews may provide a higher likelihood of assigning diagnoses than family history reports. The aims of the present study were to: (1) compare diagnoses for threshold and subthreshold mood syndromes from interviews to those relying on information from relatives; (2) test the appropriateness of lowering the diagnostic threshold and combining multiple reports from the family history method to obtain comparable prevalence estimates to the interviews; (3) identify factors that influence the likelihood of agreement and reporting of disorders by informants. Within a family study, 1621 informant-index subject pairs were identified. DSM-5 diagnoses from direct interviews of index subjects were compared to those derived from family history information provided by their first-degree relatives. (1) Inter-informant agreement was acceptable for Mania, but low for all other mood syndromes. (2) Except for Mania and subthreshold depression, the family history method provided significantly lower prevalence estimates. The gap improved for all other syndromes after lowering the threshold of the family history method. (3) Individuals who had a history of depression themselves were more likely to report depression in their relatives. Low proportion of affected individuals for manic syndromes and lack of independence of data. The higher likelihood of reporting disorders by affected informants entails the risk of overestimation of the size of familial aggregation of depression. Copyright © 2014 Elsevier B.V. All rights reserved.

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

PubMed

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.

Risk of breast cancer in families of multiple affected women and men.

PubMed

Bevier, Melanie; Sundquist, Kristina; Hemminki, Kari

2012-04-01

Family history of first and second-degree relatives is known to increase the risk for breast cancer. Less data are available on the risks between defined multiple affected close and distant relatives for which the reliability of data may be an issue. Data on affected males are sparse. These questions and the probable genetic models were addressed in this study by means of a nationwide Swedish Family-Cancer Database. We estimated the effect of family history of breast cancer by Poisson regression for women of at least 30 years of age after adjusting for age, period, region, socioeconomic status, number of children, and age at first birth. The results of the study showed that relative risk (RR) for breast cancer was associated with a first degree as well as second-degree family history. Having at least two female affected first-degree relatives increased the RR at least to 2.8, favoring an additive interaction. The risk was increased around ten times in women with both parents affected. When either a father or a mother was affected, the RRs were nearly identical (RR = 1.73 and 1.74, respectively). The RR for a woman increased more when a brother was affected (RR = 2.48) compared to when a sister was affected (RR = 1.87). Having an affected grandmother showed lower familial excess risks than having an affected half sister (RR = 1.27, and 1.26; and RR = 1.39, and 1.50; respectively, for maternal and paternal relatives). We concluded that when both parents were diagnosed with breast cancer, the risk for the daughter was increased tenfold. Having an affected brother showed a somewhat higher risk than having an affected sister. The data suggest that male breast cancer has a higher genetic basis than female breast cancer, which invites further search of the underlying mechanisms.

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression.

PubMed

Vornanen, Marleena; Konttinen, Hanna; Kääriäinen, Helena; Männistö, Satu; Salomaa, Veikko; Perola, Markus; Haukkala, Ari

2016-09-01

Family history is a useful and inexpensive tool to assess risks of multifactorial diseases. Family history enables individualized disease prevention, but its effects on perceived risks of various diseases need to be understood in more detail. We examined how family history relates to perceived risk of diabetes mellitus, cardiovascular disease (CVD), cancer, and depression, and whether these associations are independent of or moderated by sociodemographic factors, health behavior/weight status (smoking, alcohol consumption, physical activity, BMI [kg/m(2)]), or depressive symptoms. Participants were Finnish 25-74-year-olds (N=6258) from a population-based FINRISK 2007 study. Perceived absolute lifetime risks (Brewer et al., 2004; Becker, 1974; Weinstein and Nicolich, 1993; Guttmacher et al., 2004; Yoon et al., 2002) and first-degree family history of CVD, diabetes, cancer and depression, and health behaviors were self-reported. Weight and height were measured in a health examination. Family history was most prevalent for cancer (36.7%), least for depression (19.6%). Perceived risk mean was highest for CVD (2.8), lowest for depression (2.0). Association between family history and perceived risk was strongest for diabetes (β=0.34, P<0.001), weakest for depression (β=0.19, P<0.001). Adjusting for sociodemographics, health behavior, and depressive symptoms did not change these associations. The association between family history and perceived risk tended to be stronger among younger than among older adults, but similar regardless of health behaviors or depressive symptoms. Association between family history and perceived risk varies across diseases. People's current understandings on heritability need to be acknowledged in risk communication practices. Future research should seek to identify effective strategies to combine familial and genetic risk communication in disease prevention. Copyright © 2016 Elsevier Inc. All rights reserved.

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

PubMed

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.

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

PubMed

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.

Characteristics of Health Information Gatherers, Disseminators, and Blockers Within Families at Risk of Hereditary Cancer: Implications for Family Health Communication Interventions

PubMed Central

Peters, June A.; Kenen, Regina; Hoskins, Lindsey M.; Ersig, Anne L.; Kuhn, Natalia R.; Loud, Jennifer T.; Greene, Mark H.

2009-01-01

Objectives. Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer. Methods. A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers. Results. Gatherers of information were more often female (P < .001), parents (P < .001), and emotional support providers (P < .001). Disseminators were more likely female first- and second- degree relatives (both P < .001), family members in the older or same generation as the participant (P < .001), those with a cancer history (P < .001), and providers of emotional (P < .001) or tangible support (P < .001). Blockers tended to be spouses or partners (P < .001) and male, first-degree relatives (P < .001). Conclusions. Our results provide insight into which family members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk. PMID:19833996

Family history and outcome of young patients with breast cancer in the UK (POSH study).

PubMed

Eccles, B K; Copson, E R; Cutress, R I; Maishman, T; Altman, D G; Simmonds, P; Gerty, S M; Durcan, L; Stanton, L; Eccles, D M

2015-07-01

Young patients presenting to surgical clinics with breast cancer are usually aware of their family history and frequently believe that a positive family history may adversely affect their prognosis. Tumour pathology and outcomes were compared in young British patients with breast cancer with and without a family history of breast cancer. Prospective Outcomes in Sporadic versus Hereditary breast cancer (POSH) is a large prospective cohort study of women aged less than 41 years with breast cancer diagnosed and treated in the UK using modern oncological management. Personal characteristics, tumour pathology, treatment and family history of breast/ovarian cancer were recorded. Follow-up data were collected annually. Family history data were available for 2850 patients. No family history was reported by 65·9 per cent, and 34·1 per cent reported breast/ovarian cancer in at least one first- or second-degree relative. Patients with a family history were more likely to have grade 3 tumours (63·3 versus 58·9 per cent) and less likely to have human epidermal growth factor receptor 2-positive tumours (24·7 versus 28·8 per cent) than those with no family history. In multivariable analyses, there were no significant differences in distant disease-free intervals for patients with versus those without a family history, either for the whole cohort (hazard ratio (HR) 0·89, 95 per cent c.i. 0·76 to 1·03; P = 0·120) or when stratified by oestrogen receptor (ER) status (ER-negative: HR 0·80, 0·62 to 1·04, P = 0·101; ER-positive: HR 0·95, 0·78 to 1·15, P = 0·589). Young British patients presenting to breast surgical clinics with a positive family history can be reassured that this is not a significant independent risk factor for breast cancer outcome. © 2015 BJS Society Ltd Published by John Wiley & Sons Ltd.

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

PubMed

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  < 0.0001) with greater FHS. There was a 3.5-fold (95% CI 2.56-4.79) range of risk between the lowest and highest FHS groups, whereas women who had two or more relatives with breast cancer, the strongest conventional familial risk factor, had a 2.5-fold (95% CI 1.83-3.47) increase in risk. Using likelihood ratio tests, the best model for determining breast cancer risk due to family 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.

Clinical Correlates of Planned and Unplanned Suicide Attempts.

PubMed

Chaudhury, Sadia R; Singh, Tanya; Burke, Ainsley; Stanley, Barbara; Mann, J John; Grunebaum, Michael; Sublette, M Elizabeth; Oquendo, Maria A

2016-11-01

Suicide attempters differ in the degree of planning for their suicide attempts. The purpose of this study was to identify differences between individuals who make planned (≥3 hours of planning) and unplanned (<3 hours of planning) suicide attempts. Depressed suicide attempters (n = 110) were compared based on degree of planning of their most recent suicide attempt on demographic and clinical variables. Participants who made planned suicide attempts were more likely to have family history of completed suicide, more severe and frequent suicidal ideation, greater trait impulsivity, and greater suicidal intent and more severe medical consequences for both their most recent and most serious suicide attempts. These results suggest clear clinical differences based on the degree of suicide attempt planning. Severe suicidal ideation, high suicide intent, family history of suicide completion, and high levels of motor impulsivity contribute to a phenotype that is at greater risk of planned, highly lethal suicide attempts.

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

PubMed

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, <50 and ≥50 years. One thousand one hundred and sixty-seven patients with IDC and ILC entered the study. A family history of malignancies was reported in 21.6 % of patients with IDC as opposed to 37.8 % of patients with ILC (P < 0.001). A history of gastric cancer was reported in 7.2 % in the ILC group as compared to 2.3 % in the IDC group, P < 0.008. A family history of breast 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.

Hereditary factors are unlikely behind unusual pattern of early - Onset colorectal cancer in Egyptians: A study of family history and pathology features in Egyptians with large bowel cancer (cross-sectional study).

PubMed

Abou-Zeid, Ahmed A; Jumuah, Wael A; Ebied, Essam F; Abd El Samee Atia, Karim Sabry; El Ghamrini, Yasser; Somaie, Dina A

2017-08-01

Colorectal cancer in Egypt has a higher incidence in young patients compared to western countries, where the disease is more prevalent in the old age group. This difference has been attributed to higher incidence of hereditary cancers in young Egyptian patients. The aim of this study is to compare the family history criteria and pathology features of tumors in young (≤40 years) and old (>40 years) Egyptian patients with adenocarcinoma of the colon and rectum. This is the analysis of our prospectively collected data on the pathology features of tumors in 313 consecutive patients (133 young, 180 old) with colorectal cancer presenting to the Department of Surgery within an eight-year period. A detailed family history was obtained from 258 patients (112 young, 146 old). 41 young and 48 old patients reported family history of cancer, the difference was not statistically significant. Ten young patients (9%) reported a family history of colorectal cancer in a first degree relative (3 fitting into Amsterdam criteria, 7 fitting into less strict criteria) which was not significantly different from the old age group. The pathologic features of tumors in both groups resembled sporadic rather than hereditary cancer and there was no significant difference between groups in tumor location, degree of differentiation, mucin production, synchronous and metachronous colorectal tumors or polyps and grossly stricturing or ulcerating tumors. Extracolonic tumors developed in one young and two old patients. The characteristics of large bowel cancer in young Egyptian patients do not differ significantly from those in older patients. Despite the high incidence of large bowel cancer in young Egyptian patients, family history and pathologic features of tumors do not support a hereditary origin of colorectal cancer in this age group in Egypt. Copyright © 2017 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

Association of family history and survival in patients with colorectal cancer: a pooled analysis of eight epidemiologic studies.

PubMed

Chong, Dawn Q; Banbury, Barbara L; Phipps, Amanda I; Hua, Xinwei; Kocarnik, Jonathan; Peters, Ulrike; Berndt, Sonja I; Huang, Wen-Yi; Potter, John D; Slattery, Martha L; White, Emily; Campbell, Peter T; Harrison, Tabitha; Newcomb, Polly A; Chan, Andrew T

2018-05-01

A family history of colorectal cancer (CRC) in first-degree relatives (FDRs) increases the risk of CRC. However, the influence of family history on survival among CRC patients remains unclear. We conducted a pooled analysis of survival in 5010 incident CRC cases. Cox proportional hazards models were used to estimate the association of family history with overall survival (OS) and CRC-specific survival (CSS). We also assessed the impact of the number of affected FDRs and age at CRC diagnosis in the affected FDRs on survival. Among CRC cases, 819 (16%) patients reported a family history of CRC. There were 1580 total deaths over a median follow-up of 4.6 years, of which 1046 (66%) deaths were due to CRC. Having a family history of CRC was not associated with OS [hazard ratio (HR), 1.03; 95% confidence interval (CI), 0.89-1.19] or CSS (HR, 1.13; 95% CI, 0.95-1.36)]. There were no associations between the number of affected relatives or age at CRC diagnosis of the affected relative with survival (all P trend  > 0.05). However, a family history of CRC did confer worse CSS in patients diagnosed with distal colon cancer (HR, 1.45, 95% CI, 1.03-2.04). A family history of CRC was generally not associated with survival after CRC diagnosis. However, having a family history of CRC was associated with worse CRC prognosis in individuals with distal colon cancer, suggesting a possible genetic predisposition with distinct pathogenic mechanism that may lead to worse survival in this group. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Association between family cancer history and risk of pancreatic cancer.

PubMed

Schulte, Annaka; Pandeya, Nirmala; Fawcett, Jonathan; Fritschi, Lin; Klein, Kerenaftali; Risch, Harvey A; Webb, Penelope M; Whiteman, David C; Neale, Rachel E

2016-12-01

Family history of pancreatic adenocarcinoma is an established risk factor for the disease. However, associations of pancreatic cancer with other familial cancers are less clear. We analyzed data from the Queensland Pancreatic Cancer Study (QPCS), an Australian population-based case-control study, to investigate associations between family history of various cancer types and risk of pancreatic cancer. Our study included 591 pancreatic cancer patients and 646 controls, all of whom self-reported the histories of cancer in their first-degree relatives. We used logistic regression to estimate adjusted odds ratios (ORs) and their 95% confidence intervals (CIs). Based on our results, we conducted a systematic literature review using the Medline (OVID) database to identify articles pertaining to the association between family history of melanoma and risk of pancreatic cancer. A meta-analysis including associations in five published studies, unpublished results from a study co-author and the QPCS results was then performed using the DerSimonian and Laird random-effects model. Cases were more likely than controls to report a family history of pancreatic cancer (OR 2.20, 95% CI 1.16-4.19) and melanoma (OR 1.74, 95% CI 1.03-2.95), but not of breast, ovarian, respiratory, other gastrointestinal or prostate cancer. Meta-analysis of melanoma family history and pancreatic cancer risk yielded an OR of 1.22 (95% CI 1.00-1.51). Our results yield further evidence of increased risk of pancreatic cancer in those with family histories of the disease. We also provide suggestive evidence of an association between family history of melanoma and risk of pancreatic cancer. Copyright © 2016. Published by Elsevier Ltd.

Effects of physical activity on colorectal cancer risk among family history and body mass index subgroups: a systematic review and meta-analysis.

PubMed

Shaw, Eileen; Farris, Megan S; Stone, Chelsea R; Derksen, Jeroen W G; Johnson, Rhys; Hilsden, Robert J; Friedenreich, Christine M; Brenner, Darren R

2018-01-11

Physical activity is consistently associated with a reduced risk of colorectal cancer in epidemiologic studies. This association among higher risk subgroups, such as those with a first-degree family history of colorectal cancer or high body mass index remains unclear. We searched MEDLINE for studies examining physical activity and colorectal cancer risk among higher risk subgroups through July 11, 2017. Fifteen and three studies were eligible for inclusion for body mass index and first-degree family history of colorectal cancer subgroups, respectively. Estimates of the highest to lowest comparison of physical activity for each subgroup of risk were pooled using random-effects models. The pooled associations of physical activity and colorectal cancer risk for those without and with a first-degree family history of colorectal cancer were 0.56 (95% confidence interval (CI) = 0.39-0.80) and 0.72 (95% CI = 0.39-1.32), respectively (p heterogeneity  = 0.586). The pooled associations of physical activity and colorectal cancer risk for the low and high body mass index groups were 0.74 (95% CI = 0.66-0.83) and 0.65 (95% CI = 0.53-0.79), respectively (p heterogeneity  = 0.389). Overall, a stronger relative risk of physical activity on colorectal cancer risk was observed in the higher body mass index group, although the difference was not statistically significant, suggesting an added benefit of physical activity as a cancer prevention strategy in population groups with strong risk factors for colorectal cancer. Additional research among these subgroups is warranted.

The Importance of Family History in Breast Cancer Patients in Primary Care Setting: a Cross-sectional Study.

PubMed

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.

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

PubMed

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.

Family history of breast or ovarian cancer modifies the risk of secondary leukemia after breast cancer: results from a population-based study.

PubMed

Verkooijen, Helena M; Fioretta, Gerald; Rapiti, Elisabetta; Vlastos, Georges; Neyroud-Caspar, Isabelle; Chappuis, Pierre O; Bouchardy, Christine

2008-03-01

We evaluated the impact of a family history of breast/ovarian cancer on the risk of secondary leukemia following breast cancer. At the Geneva cancer registry, we identified 4,397 patients diagnosed with invasive breast cancer between 1990 and 2004. Patients were followed up for leukemia until the end of 2005. Family history was categorized as positive in patients with >or=1 first- or second-degree relative with breast/ovarian cancer. We compared leukemia rates in patients with positive and negative family histories with those expected in the general population, generating standardized incidence ratios (SIRs). With Cox regression analysis, we calculated adjusted risks of secondary leukemia in patients with familial risks compared to those without it. Breast cancer patients had a significantly increased risk of secondary acute leukemia (SIR 3.2, 95% CI: 1.2-6.9) but not of chronic leukemia (SIR 1.6, 95% CI: 0.6-3.5). Among patients with a positive family history (n = 1.125, 25.6%), the SIRs were 5.7 (95% CI: 1.2-16.6) for acute and 5.2 (95% CI: 1.4-13.3) for chronic leukemia. Among breast cancer patients, family history was independently associated with leukemia [adjusted hazard ratio (HR(adj)) of 3.2, 95% CI: 1.1-9.2, among patient with vs. without family history]. The effect of family history was stronger for chronic leukemia (HR(adj): 11.6, 95% CI 1.3-104.7) than for acute leukemia (HR(adj) 1.6, 95% CI: 0.4-6.6). Breast cancer patients with a family history of breast/ovarian have an increased risk of secondary leukemia, both compared to the general population as well as to breast cancer patients without family histories. This excess risk is largely due to the increased risk of secondary chronic leukemia. (c) 2007 Wiley-Liss, Inc.

Family history of diabetes, lifestyle factors, and the 7-year incident risk of type 2 diabetes mellitus in middle-aged Japanese men and women.

PubMed

Sakurai, Masaru; Nakamura, Koshi; Miura, Katsuyuki; Takamura, Toshinari; Yoshita, Katsushi; Sasaki, Satoshi; Nagasawa, Shin-Ya; Morikawa, Yuko; Ishizaki, Masao; Kido, Teruhiko; Naruse, Yuchi; Suwazono, Yasushi; Nakagawa, Hideaki

2013-05-06

This cohort study of middle-aged Japanese participants investigated the relationship between family history of diabetes, the incident risk of type 2 diabetes and the interaction of these variables with other factors. Study participants were 3,517 employees (2,037 men and 1,480 women) of a metal products factory in Japan. Baseline health examinations included questions about medical history, physical examination, anthropometric measurements, questions about lifestyle factors, such as smoking, alcohol consumption and habitual exercise, and a self-administered diet history questionnaire. Family history of diabetes was defined as having at least one-first-degree relative with diabetes. The incidence of diabetes was determined in annual medical examinations over a 7-year period. Hazard ratios (HRs) for type 2 diabetes were estimated by Cox proportional hazards analysis. Of the 3,517 participants, 630 (18%) had a family history of diabetes mellitus. During the study, 228 participants developed diabetes. The age and sex-adjusted HR for type 2 diabetes in participants with a family history of diabetes was 1.82 (95% confidence interval 1.36-2.43) as compared with those without a family history of diabetes. HRs did not change after adjustment for body mass index and lifestyle factors. We found no interactions with body mass index, insulin resistance, pancreatic β-cell function or lifestyle factors. Family history of diabetes was associated with the incident risk of diabetes, and these associations were independent of other risk factors, such as obesity, insulin resistance, and lifestyle factors in Japanese men and women.

Family history: an opportunity for early interventions and improved control of hypertension, obesity and diabetes.

PubMed Central

van der Sande, M. A.; Walraven, G. E.; Milligan, P. J.; Banya, W. A.; Ceesay, S. M.; Nyan, O. A.; McAdam, K. P.

2001-01-01

OBJECTIVE: To examine whether a family history of high-risk groups for major noncommunicable diseases (NCDs) was a significant risk factor for these conditions among family members in a study population in the Gambia, where strong community and family coherence are important determinants that have to be taken into consideration in promoting lifestyle changes. METHODS: We questioned 5389 adults as to any first-degree family history of major noncommunicable diseases (hypertension, obesity, diabetes and stroke), and measured their blood pressure (BP) and body mass index (BMI). Total blood cholesterol, triglyceride, uric acid, and creatinine concentrations were measured in a stratified subsample, as well as blood glucose (2 hours after ingesting 75 g glucose) in persons aged > or = 35 years. FINDINGS: A significant number of subjects reported a family history of hypertension (8.0%), obesity (5.4%), diabetes (3.3%) and stroke (1.4%), with 14.6% of participants reporting any of these NCDs. Subjects with a family history of hypertension had a higher diastolic BP and BMI, higher cholesterol and uric acid concentrations, and an increased risk of obesity. Those with a family history of obesity had a higher BMI and were at increased risk of obesity. Individuals with a family history of diabetes had a higher BMI and higher concentrations of glucose, cholesterol, triglycerides and uric acid, and their risk of obesity and diabetes was increased. Subjects with a family history of stroke had a higher BMI, as well as higher cholesterol, triglyceride and uric acid concentrations. CONCLUSIONS: A family history of hypertension, obesity, diabetes, or stroke was a significant risk factor for obesity and hyperlipidaemia. With increase of age, more pathological manifestations can develop in this high-risk group. Health professionals should therefore utilize every opportunity to include direct family members in health education. PMID:11357211

Prevalence and correlates of physical and sexual abuse in children and adolescents with bipolar disorder.

PubMed

Romero, Soledad; Birmaher, Boris; Axelson, David; Goldstein, Tina; Goldstein, Benjamin I; Gill, Mary Kay; Iosif, Ana-Maria; Strober, Michael A; Hunt, Jeffrey; Esposito-Smythers, Christianne; Ryan, Neal D; Leonard, Henrietta; Keller, Martin

2009-01-01

Adult bipolar disorder (BP) has been associated with lifetime history of physical and sexual abuse. However, there are no reports of the prevalence of abuse in BP youth. The objective of this study was to examine the prevalence and correlates of physical and/or sexual abuse among youth with BP spectrum disorders. Four hundred forty-six youths, ages 7 to 17 years (12.7+/-3.2), meeting DSM-IV criteria for BP-I (n=260), BP-II (n=32) or operationalized definition of BP-NOS (n=154) were assessed using the Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime version (K-SADS-PL). Abuse was ascertained using the K-SADS. Twenty percent of the sample experienced physical and/or sexual abuse. The most robust correlates of any abuse history were living with a non-intact family (OR=2.6), lifetime history of posttraumatic stress disorder (PTSD) (OR=8.8), psychosis (OR=2.1), conduct disorder (CD) (OR=2.3), and first-degree family history of mood disorder (OR=2.2). After adjusting for confounding demographic factors, physical abuse was associated with longer duration of BP illness, non-intact family, PTSD, psychosis, and first-degree family history of mood disorder. Sexual abuse was associated with PTSD. Subjects with both types of abuse were older, with longer illness duration, non-intact family, and greater prevalence of PTSD and CD as compared with the non-abused group. Retrospective data. Also, since this is a cross-sectional study, no inferences regarding causality can be made. Sexual and/or physical abuse is common in youth with BP particularly in subjects with comorbid PTSD, psychosis, or CD. Prompt identification and treatment of these youth is warranted.

Association between family history risk categories and prevalence of diabetes in Chinese population.

PubMed

Zhang, Jinping; Yang, Zhaojun; Xiao, Jianzhong; Xing, Xiaoyan; Lu, Juming; Weng, Jianping; Jia, Weiping; Ji, Linong; Shan, Zhongyan; Liu, Jie; Tian, Haoming; Ji, Qiuhe; Zhu, Dalong; Ge, Jiapu; Chen, Li; Guo, Xiaohui; Zhao, Zhigang; Li, Qiang; Zhou, Zhiguang; Lin, Lixiang; Wang, Na; Yang, Wenying

2015-01-01

To investigate the association between different family history risk categories and prevalence of diabetes in the Chinese population. The family history of diabetes was obtained from each subject, and an oral glucose tolerance test was performed for measuring the fasting and postload glucose and insulin levels based on a national representative cross-sectional survey of 46,239 individuals (age ≥ 20 years) in the 2007-2008 China National Diabetes and Metabolism Disorders Study. The family history risk categories of diabetes were high, moderate, and average (FH2 and FH1: at least two generations and one generation of first-degree relatives with diabetes, respectively; FH0: no first-degree relatives with diabetes). The age- and gender-adjusted prevalence rates of diabetes were 32.7% (95% confidence interval (CI): 26.4-39.7%) in FH2, 20.1% (95% CI: 18.2-22.1%) in FH1, and 8.4% (95% CI: 7.9-8.9%) in FH0 (P < 0.0001). The calculated homeostatic model assessment-estimated insulin resistance (HOMA-IR), Matsuda insulin sensitivity index (ISI), and insulinogenic index (ΔI30/ΔG30) values showed significant trending changes among the three risk categories, with the most negative effects in FH2. Multivariate logistic regression analysis showed that the odds ratios of having diabetes were 6.16 (95% CI: 4.46-8.50) and 2.86 (95% CI: 2.41-3.39) times higher in FH2 and FH1, respectively, than in FH0 after adjustment for classical risk factors for diabetes. Family history risk categories of diabetes have a significant, independent, and graded association with the prevalence of this disease in the Chinese population.

Family Histories of Anxiety in Overweight Men and Women with Binge Eating Disorder: A Preliminary Investigation

PubMed Central

Blomquist, Kerstin K.; Grilo, Carlos M.

2015-01-01

Objective A preliminary examination of the significance of family histories of anxiety in the expression of binge eating disorder (BED) and associated functioning. Methods Participants were 166 overweight patients with BED assessed using diagnostic interviews. Participants were administered a structured psychiatric history interview about their first-degree relatives (parents, siblings, children) (N=897) to determine lifetime diagnoses of DSM-IV anxiety disorders and completed a battery of questionnaires assessing current and historical eating and weight variables and associated psychological functioning (depression). Results BED patients with a family history of anxiety disorder were significantly more likely than BED patients without a family history of anxiety disorder to have lifetime diagnoses of anxiety disorders and mood disorders but not substance use disorders. A family history of anxiety was not significantly associated with timing or sequencing of age at onset of anxiety disorder, binge eating, dieting, or obesity, or with variability in current levels of binge eating, eating disorder psychopathology, or psychological functioning. Conclusions Although replication with direct interview method is needed, our preliminary findings suggest that a family history of anxiety confers greater risk for comorbid anxiety and mood disorders but is largely unrelated to the development of binge eating, dieting, or obesity and unrelated to variability in eating disorder psychopathology or psychological functioning in overweight patients with BED. PMID:26343481

Family history in breast cancer in São Luís, Maranhão, Brazil.

PubMed

Ribeiro, Maria Hilda Araújo; da Silva, Marcos Antonio Custódio Neto; Muniz Filho, Walbert Edson; Nascimento, Anna Cyntia Brandão; Souza, Rodrigo Duart Martins; Machado, Carlos Eduardo Everton; Silva, Dulcelena Ferreira; de Barros Bezerra, Geusa Felipa; de Castro Viana, Graça Maria; Soares Brandão Nascimento, Maria do Desterro

2016-03-10

Familial cancer includes some types of cancer aggregation without a well-defined inheritance pattern. Cancer genetics is an essential component of clinical practice in oncology. In Brazil, breast cancer is the leading cause of death in women. In Maranhão, studies on genetic predisposition are necessary to investigate the incidence and mortality rates. The aim of this study was to investigate familial cancer among relatives of women who died of breast cancer in São Luís, Brazil, constructing a pedigree to identify families with a hereditary predisposition, an important step in the early diagnosis of malignant tumors. The city of São Luís is located on the Island of Maranhão, northeastern Brazil, with a population of 997,098 inhabitants mainly comprising blacks and mulattoes, including descendants of runaway slaves from the Amazon region itself. Data for pedigree construction were obtained from the records of 54 patients seen at the Aldenora Bello Institute of Oncology, São Luís, between 2000 and 2007, as well as by interview with relatives of the patients. The mean patient age at diagnosis was 39.5 years. Most women were mulattoes (36/54, 66.6%). A history of cancer was observed in 18 families, with 16 families possessing cases of cancer among first-degree relatives and five among second-degree relatives. A concentration of cancer cases was found in families of patients diagnosed until the age of 40, a finding demonstrating the importance of a family history prior to genetic counseling.

Developing Family Healthware, a family history screening tool to prevent common chronic diseases.

PubMed

Yoon, Paula W; Scheuner, Maren T; Jorgensen, Cynthia; Khoury, Muin J

2009-01-01

Family health history reflects the effects of genetic, environmental, and behavioral factors and is an important risk factor for a variety of disorders including coronary heart disease, cancer, and diabetes. In 2004, the Centers for Disease Control and Prevention developed Family Healthware, a new interactive, Web-based tool that assesses familial risk for 6 diseases (coronary heart disease, stroke, diabetes, and colorectal, breast, and ovarian cancer) and provides a "prevention plan" with personalized recommendations for lifestyle changes and screening. The tool collects data on health behaviors, screening tests, and disease history of a person's first- and second-degree relatives. Algorithms in the software analyze the family history data and assess familial risk based on the number of relatives affected, their age at disease onset, their sex, how closely related the relatives are to each other and to the user, and the combinations of diseases in the family. A second set of algorithms uses the data on familial risk level, health behaviors, and screening to generate personalized prevention messages. Qualitative and quantitative formative research on lay understanding of family history and genetics helped shape the tool's content, labels, and messages. Lab-based usability testing helped refine messages and tool navigation. The tool is being evaluated by 3 academic centers by using a network of primary care practices to determine whether personalized prevention messages tailored to familial risk will motivate people at risk to change their lifestyles or screening behaviors.

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

PubMed

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.

Family History of Peripheral Artery Disease is associated with Prevalence and Severity of Peripheral Artery Disease: The San Diego Population Study (SDPS)

PubMed Central

Wassel, Christina L.; Loomba, Rohit; Ix, Joachim H.; Allison, Matthew A.; Denenberg, Julie O.; Criqui, Michael H.

2011-01-01

Objective To determine the association of family history of peripheral artery disease (PAD) with PAD prevalence and severity. Background PAD is a significant public health problem. Shared genetic and environmental factors may play an important role in the development of PAD. However, family history of PAD has not been adequately investigated. Methods The San Diego Population Study (SDPS) enrolled 2404 ethnically diverse men and women aged 29–91 who attended a baseline visit from 1994–98 to assess PAD and venous disease. Ankle brachial index (ABI) measurement was performed at the baseline clinic examination and family history of PAD was obtained via questionnaire. Family history of PAD was primarily defined as having any 1st degree relative with PAD. Prevalent PAD was defined as ABI ≤ 0.90 and severe prevalent PAD as ABI ≤ 0.70, with both definitions also including any previous leg revascularization. Logistic regression was used to evaluate the association of family history of PAD with prevalent PAD. Results The mean (SD) age was 59 (11) years, 66% were women, and 58% were Caucasian with 42% comprising other racial/ethnic groups. Prevalence of PAD was 3.6%, and severe prevalent PAD was 1.9%. In fully adjusted models, family history of PAD was associated with a 1.83-fold higher odds of PAD (95% CI (1.03, 3.26), p=0.04), an association which was stronger for severe prevalent PAD (OR 2.42, 95% CI (1.13, 5.23), p=0.02). Conclusions Family history of PAD is independently strongly associated with PAD prevalence and severity. This indicates a role for genetic factors and/or other shared environmental factors contributing to PAD. PMID:21920269

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

PubMed

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.

Family history density of alcoholism relates to left nucleus accumbens volume in adolescent girls.

PubMed

Cservenka, Anita; Gillespie, Alicia J; Michael, Paul G; Nagel, Bonnie J

2015-01-01

A family history of alcoholism is a significant risk factor for the development of alcohol use disorders (AUDs). Because common structural abnormalities are present in reward and affective brain regions in alcoholics and those with familial alcoholism, the current study examined the relationship between familial loading of AUDs and volumes of the amygdala and nucleus accumbens (NAcc) in largely alcohol-naive adolescents, ages 12-16 years (N = 140). The amygdala and NAcc were delineated on each participant's T1-weighted anatomical scan, using FMRIB Software Library's FMRIB Integrated Registration & Segmentation Tool, and visually inspected for accuracy and volume outliers. In the 140 participants with accurate segmentation (75 male/65 female), subcortical volumes were represented as a ratio to intracranial volume (ICV). A family history density (FHD) score was calculated for each adolescent based on the presence of AUDs in first- and second-degree relatives (range: 0.03-1.50; higher scores represent a greater prevalence of familial AUDs). Multiple regressions, with age and sex controlled for, examined the association between FHD and left and right amygdala and NAcc volume/ICV. There was a significant positive relationship between FHD and left NAcc volume/ICV (ΔR² = .04, p = .02). Post hoc regressions indicated that this effect was only significant in females (ΔR² = .11, p = .006). This finding suggests that the degree of familial alcoholism, genetic or otherwise, is associated with alterations in reward-related brain structure. Further work will be necessary to examine whether FHD is related to future alcohol-related problems and reward-related behaviors.

Does a family history of pancreatic ductal adenocarcinoma and cyst size influence the follow-up strategy for intraductal papillary mucinous neoplasms of the pancreas?

PubMed

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 (<10, 10-20, and 20-30 mm) in cases without mural nodules. Patients with 1 first-degree relative with PDAC can be followed up using the same criteria for patients without a 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.

Screening colonoscopy participation in Turkish colorectal cancer patients and their first degree relatives.

PubMed

Kilickap, Saadettin; Arslan, Cagatay; Rama, Dorina; Yalcin, Suayib

2012-01-01

This study aimed to research the awareness of screening colonoscopy (SC) among patients with colorectal cancer (CRC) and their relatives. A questionnaire form including information and behavior about colonoscopic screening for CRCs of patients and their first-degree relatives (FDRs) was prepared. A total of 406 CRC patients were enrolled into the study, with 1534 FDRs (siblings n: 1381 and parents n: 153) . Positive family history for CRC was found in 12% of the study population. Previous SC was performed in 11% of patients with CRC. Mean age of the patients whose FDRs underwent SC was lower than the patients whose FDRs did not (52 vs 57 years; p<0,001). The frequency of SC in FDRs was 64% in patients diagnosed CRC under 35 years of age. Persons having a positive family history of CRC had SC more often (51 vs 22%, p<0,001). FDRs of patients having a higher educational level and income had SC more frequently. When screening for CRC is planned, elderly subjects, those with family history for CRC, and those with low educational and lower income should be given especial attention in order that they be convinced to undergo screening for CRC.

Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients

PubMed Central

Vig, Hetal S.; McCarthy, Anne Marie; Liao, Kaijun; Demeter, Mirar Bristol; Fredericks, Tracey; Armstrong, Katrina

2013-01-01

Background Standard BRCA genetic testing criteria include young age of diagnosis, family history, and Jewish ancestry. The purpose of this study was to assess the effect of these criteria on BRCA test utilization in breast cancer patients. Methods Breast cancer patients aged 18-64yrs living in Pennsylvania in 2007 completed a survey on family history of breast and ovarian cancer and BRCA testing (N=2213). Multivariate logistic regression was used to estimate odds of BRCA testing by patient characteristics, and predicted probabilities of testing were calculated for several clinical scenarios. Results Young age at diagnosis (<50 yrs.) was strongly associated with BRCA testing, with women diagnosed before age 50 yrs. having nearly five times the odds of receiving BRCA testing compared to women diagnosed at age 50 or older (OR=4.81, 95% CI: 3.85-6.00, p<0.001). Despite a similar BRCA mutation prevalence estimate (8-10%), a young Jewish patient <50 yrs. with no family history had markedly higher predicted probability of testing (63%) compared with an older, non-Jewish breast cancer patient with more than 1 first degree relative (FDR) (43%). Conclusion Age at diagnosis, Jewish ancestry, and both maternal and paternal family history are strongly predictive of BRCA testing. However, among women diagnosed at age 50 or older, family history may be an underutilized criterion that may benefit from targeted intervention. Impact Robust methods specific to ascertaining detailed family history, such as through electronic medical records (EMR), are needed to accurately identify patients for BRCA testing. PMID:23917453

Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients.

PubMed

Vig, Hetal S; McCarthy, Anne Marie; Liao, Kaijun; Demeter, Mirar Bristol; Fredericks, Tracey; Armstrong, Katrina

2013-10-01

Standard BRCA genetic testing criteria include young age of diagnosis, family history, and Jewish ancestry. The purpose of this study was to assess the effect of these criteria on BRCA test utilization in breast cancer patients. Breast cancer patients aged 18 to 64 years living in Pennsylvania in 2007 completed a survey on family history of breast and ovarian cancer and BRCA testing (N = 2,213). Multivariate logistic regression was used to estimate odds of BRCA testing by patient characteristics, and predicted probabilities of testing were calculated for several clinical scenarios. Young age at diagnosis (<50 years) was strongly associated with BRCA testing, with women diagnosed before age 50 years having nearly five times the odds of receiving BRCA testing compared to women diagnosed at age 50 or older (OR = 4.81; 95% CI, 3.85-6.00; P < 0.001). Despite a similar BRCA mutation prevalence estimate (8-10%), a young Jewish patient <50 years with no family history had markedly higher predicted probability of testing (63%) compared with an older, non-Jewish breast cancer patient with more than one first-degree relative (43%). Age at diagnosis, Jewish ancestry, and both maternal and paternal family history are strongly predictive of BRCA testing. However, among women diagnosed at age 50 or older, family history may be an underused criterion that may benefit from targeted intervention. Robust methods specific to ascertaining detailed family history, such as through electronic medical records, are needed to accurately identify patients for BRCA testing.

Smoking, alcohol and family history of cancer as risk factors for small intestinal neuroendocrine tumors: a systematic review and meta-analysis.

PubMed

Haugvik, Sven-Petter; Basim Ibrahim, Ibrahim; Hedenström, Per; Valente, Roberto; Hayes, Alastair J; Siuka, Darko; Gladhaug, Ivar Prydz; Capurso, Gabriele

2017-08-01

Risk factors for small intestinal neuroendocrine tumors (SI-NETs) are not well understood. The aim of this systematic literature review was to identify risk factors for SI-NET and to further assess these by meta-analysis. PubMed and abstracts from the ENETS and NANETS were searched for studies published until May 2015. Eligible studies were selected according to the PRISMA statement. Seven studies evaluating six individual populations were included (study accrual period 1980-2012) in the meta-analysis, involving 765 (range 17-325) cases and 502,282 (range 52-498,376) controls. All studies were case-control by design. The following risk factors were reported in ≥2 studies: family history of any cancer, family history of colorectal cancer, ever alcohol use and ever smoking. The pooled OR was 1.34 (95% CI: 1.12-1.60; p < .01; I 2  = 0.0%) for family history of any cancer, 1.43 (95% CI: 1.15-1.79; p < .01; I 2  = 0.0%) for family history of colorectal cancer, 1.04 (95% CI: 0.63-1.72; p = .87; I 2  = 65.0%) for ever alcohol use and 1.40 (95% CI: 1.06-1.86; p < .05; I 2  = 49.3%) for ever smoking. Family history of any cancer, family history of colorectal cancer and history of ever smoking were associated with an increased risk of SI-NET by meta-analysis. Alcohol consumption was not a significant risk factor for SI-NET. However, the studies reporting smoking and alcohol had a high degree of heterogeneity. Therefore, further studies are needed for clarification of smoking and alcohol as risk factors for the occurrence of SI-NET.

Effect of family history on outcomes in patients treated with definitive brachytherapy for clinically localized prostate cancer.

PubMed

Peters, Christopher A; Stock, Richard G; Blacksburg, Seth R; Stone, Nelson N

2009-01-01

To determine the impact familial prostate cancer has on prognosis in men treated with brachytherapy for clinically localized prostate cancer. A total of 1,738 consecutive patients with prostate cancer (cT1-3, N0/X, M0) received low-dose-rate brachytherapy alone or in combination with external beam radiation therapy or hormone ablation from 1992 to 2005. The primary end-point was freedom from biochemical failure (FFBF) using the Phoenix definition. Minimum follow-up was 2 years and the median follow-up was 60 months (range, 24-197 months). A total of 187 of 1,738 men (11%) had a family history of prostate cancer in a first-degree relative. For the low-risk patients, both groups had similar actuarial 5-year FFBF (97.2% vs. 95.5%, p = 0.516). For intermediate-risk patients, there was a trend toward improved biochemical control in men positive for family history (5-yr FFBF 100% vs. 93.6%, p = 0.076). For the high-risk patients, men with a positive family history had similar 5-year FFBF (92.8% vs. 85.2%, p = 0.124). On multivariate analysis, family history was not significant; use of hormones, high biologic effective dose, initial prostate-specific antigen value, and Gleason score were the significant variables predicting biochemical control. This is the first study to examine the relationship of familial prostate cancer and outcomed in men treated with brachytherapy alone or in combination therapy. Men with a positive family history have clinicopathologic characteristics and biochemical outcomes similar to those with sporadic disease.

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

PubMed

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.

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

PubMed

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 < 0.05). Also follow-up (screening of 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 < 0.05). Only a few index patients with DCM were referred to a clinical genetics department. One-third of DCM cases and nearly all LQTS cases are 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.

Altered brain processing of decision-making in healthy first-degree biological relatives of suicide completers.

PubMed

Ding, Y; Pereira, F; Hoehne, A; Beaulieu, M-M; Lepage, M; Turecki, G; Jollant, F

2017-08-01

Suicidal behavior is heritable, with the transmission of risk being related to the transmission of vulnerability traits. Previous studies suggest that risky decision-making may be an endophenotype of suicide. Here, we aimed at investigating brain processing of decision-making in relatives of suicide completers in order to shed light on heritable mechanisms of suicidal vulnerability. Seventeen healthy first-degree biological relatives of suicide completers with no personal history of suicidal behavior, 16 relatives of depressed patients without any personal or family history of suicidal behavior, and 19 healthy controls were recruited. Functional 3 T magnetic resonance imaging scans were acquired while participants underwent the Iowa Gambling Task, an economic decision-making test. Whole-brain analyses contrasting activations during risky vs safe choices were conducted with AFNI and FSL. Individuals with a family history of suicide in comparison to control groups showed altered contrasts in left medial orbitofrontal cortex, and right dorsomedial prefrontal cortex. This pattern was different from the neural basis of familial depression. Moreover, controls in comparison to relatives showed increased contrast in several regions including the post-central gyrus, posterior cingulate and parietal cortices, and cerebellum (culmen) in familial suicide; and inferior parietal, temporal, occipital, anteromedial and dorsolateral prefrontal cortices, and cerebellum (vermis) in familial depression. These findings most likely represent a complex combination of vulnerability and protective mechanisms in relatives. They also support a significant role for deficient risk processing, and ventral and dorsal prefrontal cortex functioning in the suicidal diathesis.

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

PubMed

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  < 0.001). The prevalence of metabolic syndrome (21.3 vs. 12.1%, P  < 0.001) and its components (except for high-density lipoprotein cholesterol) were greater in subjects with a 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  < 0.001) and triglyceride (100.5 vs. 89.0 mg/dL, P  < 0.001), and lower beta cell function by the homeostasis model assessment (HOMA-β; 134.2 vs. 137.5, P  = 0.020). The obesity indices (body mass index, waist circumference, and triglyceride) were significantly correlated with those of both parents ( P  < 0.01 for all variables). Risk-reducing behavior, including regular exercise (18.2 vs. 19.7%, P  = 0.469) and calorie intake (2174.8 vs. 2149.1 kcal/day, P  = 0.636), did not markedly differ according to a 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.

Family history, body mass index and survival in Japanese patients with stomach cancer: a prospective study.

PubMed

Minami, Yuko; Kawai, Masaaki; Fujiya, Tsuneaki; Suzuki, Masaki; Noguchi, Tetsuya; Yamanami, Hideaki; Kakugawa, Yoichiro; Nishino, Yoshikazu

2015-01-15

Family history and nutritional status may affect the long-term prognosis of stomach cancer, but evidence is insufficient and inconsistent. To clarify the prognostic factors of stomach cancer, we conducted a prospective study of 1,033 Japanese patients with histologically confirmed stomach cancer who were admitted to a single hospital between 1997 and 2005. Family history of stomach cancer and pretreatment body mass index (BMI) were assessed using a self-administered questionnaire. Clinical data were retrieved from a hospital-based cancer registry. All patients were completely followed up until December, 2008. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated according to family history in parents and siblings and BMI category. During a median follow-up of 5.3 years, 403 all-cause and 279 stomach cancer deaths were documented. Although no association with family history was observed in the patients overall, analysis according to age group found an increased risk of all-cause death associated with a history in first degree relatives (HR = 1.61, 95% CI: 0.93-2.78, p = 0.09) and with a parental history (HR = 1.86, 95% CI: 1.06-3.26) among patients aged under 60 years at diagnosis. BMI was related to all-cause and stomach cancer death among patients aged 60 and over, showing a J-shaped pattern (HR of all-cause death = 2.28 for BMI < 18.5; HR = 1.61 for 25 ≤ vs. ≥ 23.0 to < 25.0 kg/m(2)). A family history of stomach cancer, especially parental history, may affect mortality among younger stomach cancer patients, whereas nutritional status may be a prognostic factor in older patients. © 2014 UICC.

Effects of acute tryptophan depletion on affective processing in first-degree relatives of depressive patients and controls after exposure to uncontrollable stress.

PubMed

Firk, Christine; Markus, C Rob

2008-08-01

Individuals with a family history of depression may be more likely to develop depression due to an innate vulnerability of their serotonergic system. However, even though serotonergic vulnerability may constitute a risk factor in the development of depression, it does not seem to be sufficient to cause a depressive episode. Based on previous data, it is suggested that stress may be a mediating factor. This study examined the role of serotonin (5-HT) in stress coping in individuals with or without a family history of depression. Nineteen healthy first-degree relatives of depressive patients (FH+) and 19 healthy controls without a family history of depression (FH-) were tested in a double-blind placebo-controlled design for affective processing under acute stress exposure, following acute tryptophan depletion (ATD) or placebo. Significant negative effects were found of stress on affective processing in FH- and FH+. In addition, FH- responded slower to positive words after stress only following ATD, whereas FH+ responded marginally slower under stress already after placebo and before stress following ATD. Acute stress exposure reduces positive affective bias; supporting the role of stress as an important predecessor in the development of depression. Furthermore, FH+ may be more susceptible than FH- to the negative effects of stress as well as to the negative effects of ATD. The results support the assumption that the 5-HT system is involved in stress resilience and may be more vulnerable in first-degree relatives of depression.

Role of family history and tumor location on prognosis of patients with colorectal cancer and synchronous metastases.

PubMed

Giuseppe, Colloca; Antonella, Venturino

2017-07-01

Family history of colorectal cancer and tumor location along colon-rectum have been reported as prognostic factors. The aim of the current study is to analyze the role of both on overall survival in a series of patients with metastatic colorectal cancer with synchronous metastases. A retrospective mono-institutional analysis has been performed on patients, who received chemotherapy from 2004 to 2008. A Cox proportional-hazards regression was used to calculate hazard ratio (HR) for death, after adjustment for other variables (tumor metastasectomy, number of organs involved with metastases, number of anti-neoplastic drugs, age, sex, tumor grade, baseline CEA). Two hundred and seven patients were included in the study. Only tumor metastasectomy was related with a better overall survival (HR 4.995; P < 0.001), whereas a positive family history was associated with a poor prognosis (HR 0.386; P = 0.021). After exclusion of rectal tumors, the negative prognostic effect of a positive family history appeared limited to patients with a left-sided colon cancer (HR 0.183; P = 0.036). Family history for colorectal cancer in a first-degree relative, and not tumor location, has a significant relationship with the prognosis of patients with a colorectal cancer and synchronous metastases.

Risk factors of diabetes in North Indians with metabolic syndrome.

PubMed

Pratyush, Daliparthy D; Tiwari, Shalbha; Singh, Saurabh; Singh, Surya K

2016-01-01

Metabolic syndrome progresses to diabetes and determinants of this progression like hyperinsulinemia, hypertriglyceridemia and genetic factors have been speculative. The present study was aimed at quantifying the insulin resistance and influence of family history of diabetes in subjects with metabolic syndrome developing prediabetes and diabetes. Consecutive subjects attending the endocrine clinic were evaluated for metabolic syndrome as per definition of International Diabetes Federation, 2005. The family history of diabetes in their first degree relatives was ascertained and Homeostasis model assessment of Insulin resistance (HOMA-IR), Homeostasis model assessment for beta cell function (HOMA-B) and Quantitative insulin sensitivity check index (QUICKI) were calculated in 163 subjects enrolled. HOMA-IR was higher (p<0.05) but HOMA-B and QUICKI were lower (p<0.0001) in subjects with metabolic syndrome+prediabetes or diabetes compared to metabolic syndrome with normal glucose tolerance. HOMA-B was lower and prevalence of prediabetes and diabetes was higher in metabolic syndrome subjects with family history of diabetes than in those without such family history (p<0.05). subjects with metabolic syndrome having prediabetes and diabetes had more severe insulin resistance than those with metabolic syndrome only. Beta cell dysfunction was remarkable and prevalence of prediabetes was high in metabolic syndrome subjects with family history of diabetes. Both the severity of the insulin resistance and family history of diabetes are therefore proposed to be determinants of diminished Beta cell function leading to diabetes in metabolic syndrome. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Working Memory and Decision-Making Biases in Young Adults With a Family History of Alcoholism: Studies from the Oklahoma Family Health Patterns Project

PubMed Central

Lovallo, William R.; Yechiam, Eldad; Sorocco, Kristen H.; Vincent, Andrea S.; Collins, Frank L.

2008-01-01

Background Alcohol misuse is more common in persons with a family history of alcoholism (FH+) than in those with no such history (FH−). Among FH+, behavioral disinhibition and male sex seem to signal the presence of an increased risk. Methods This study examined cognitive and behavioral characteristics of 175 nonabusing 18- to 30-year-olds, 87 FH+ and 88 FH−, who were further characterized by their degree of behavioral disinhibition using the Sociability scale of the California Personality Inventory. Working memory and decision making were tested using the Stroop Color-Word Test and the Iowa Gambling Task, a simulated card game. Results Persons with a family history of alcoholism who were behaviorally disinhibited displayed significantly greater interference on the Stroop task than the other subgroups. On the Iowa Gambling Task, FH+ males, but not the females, were significantly more attentive to financial gains than other subgroups, and they had greater consistency in their choice behaviors. Conclusions Persons with a family history of alcoholism, in combination with behavioral disinhibition, appears to signal working memory deficits and in combination with male sex indicates an attraction to the rewarding aspects of a risk-taking challenge. These findings are not secondary to heavy exposure to alcohol or other drugs, but instead reflect intrinsic risk-related familial and personal characteristics of the subjects. PMID:16634844

Is family history of alcohol dependence a risk factor for disturbed sleep in alcohol dependent subjects?

PubMed

Chakravorty, Subhajit; Chaudhary, Ninad S; Morales, Knashawn; Grandner, Michael A; Oslin, David W

2018-07-01

Disturbed sleep and a family history of alcohol dependence (AD) are risk factors for developing AD, yet the underlying relationship between them is unclear among individuals with AD. Understanding these inherited associations will help us not only identify risk for development of these comorbid disorders, but also individualize treatment at this interface. We evaluated whether a first-degree family history of AD (FH+) was a risk factor for sleep continuity disturbance in patients with AD. We also evaluated whether alcohol use or mood disturbance moderated the relationship between FH and sleep. We analyzed cross-sectional baseline data from an alcohol clinical trial in a sample of individuals with AD (N = 280). Their family history of AD among nuclear family members, sleep complaints, alcohol use (over the last 90 days), and mood disturbance were assessed using the Family History Interview for Substance and Mood Disorders, Medical Outcomes Study Sleep Scale, Time Line Follow-Back Interview, and Profile of Mood States-Short Form, respectively. A FH + status (65% of subjects) was significantly associated with lower model estimated mean sleep adequacy (β = - 7.05, p = 0.02) and sleep duration (β = - 0.38, p = 0.04) scale scores. FH was not associated with sleep disturbance scale. No significant moderating effect involving alcohol use or mood disturbance was seen. Family history of AD is a unique risk factor for sleep complaints in AD. Non-restorative sleep and sleep duration may be noteworthy phenotypes to help probe for underlying genotypic polymorphisms in these comorbid disorders. Published by Elsevier B.V.

Ethnic variation of genetic (idiopathic) generalized epilepsy in Malaysia.

PubMed

Lim, Kheng Seang; Ng, Ching Ching; Chan, Chung Kin; Foo, Wee Shean; Low, Joyce Siew Yong; Tan, Chong Tin

2017-02-01

Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016. In our epilepsy cohort (n=2100), 18.7% were diagnosed to have GGE. Of those, 28.6% >(N=112) had family history of epilepsy with a mean age of seizure onset of 16.5 years old, and 42.0% had myoclonic seizures (N=47). The lifetime prevalence of epilepsy among first-degree relative of those with GGE and positive family history was 15.0%. Analysis according to ethnicity showed that Malaysian Chinese had the lowest percentage of GGE among those with epilepsy (12.3%), as compared with Indian and Malay (25.3% and 21.3%, p<0.001). In addition, 32.1% of these Indian patients with GGE had positive family history, which is more than the Malay (26.4%) and Chinese (27.5%) ethnic groups. Consanguineous marriage was noted in 5 Indian families with positive family history (9.6%). There was ethnic variation in the prevalence of GGE, whereby the Malaysian Chinese had the lowest percentage of GGE as compared with Indian and Malay. A substantial proportion of GGE had positive family history among the three ethnics groups. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Family history of cancer and head and neck cancer survival.

PubMed

Getz, Kayla R; Rozek, Laura S; Peterson, Lisa A; Bellile, Emily L; Taylor, Jeremy M G; Wolf, Gregory T; Mondul, Alison M

2017-08-01

Patients with a family history of cancer may be genetically predisposed to carcinogenesis. This could affect risk of recurrence, second primary tumors, and overall outcomes after treatment of a primary cancer. We evaluated the association between family history of cancer and disease-specific survival in a cohort of patients with primary head and neck squamous carcinoma (HNSCC). Six hundred and forty-three incident HNSCC patients recruited through the University of Michigan Specialized Program of Research Excellence were followed for up to 5 years for survival. Participants were interviewed about personal and family cancer history, demographic information, and behavioral habits. Cox proportional hazards models were used to estimate the association between family history of cancer in a first-degree relative and disease-specific survival. After multivariable adjustment, we found a nonsignificant inverse association between family history and HNSCC mortality (hazard ratio [HR] = 0.88, 95% confidence interval [CI] 0.57-1.35). This association was stronger and statistically significant among patients who currently both drank alcohol and smoked cigarettes at diagnosis (HR = 0.46, 95% CI = 0.22-0.97); no association was observed among participants who did not both drink and smoke at the time of diagnosis (HR = 1.14, 95% CI = 0.68-1.91; p-interaction = 0.046). Results from this study suggest that having a family history of cancer may be associated with improved disease-specific survival in patients who use tobacco and alcohol. Additional large studies, particularly in populations including nonwhites and women, are needed to confirm or refute the association and to elucidate the genetic factors that may underlie this potential association. 2b. Laryngoscope, 127:1816-1820, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.

PubMed

Berlin, Nicholas L; Cartmel, Brenda; Leffell, David J; Bale, Allen E; Mayne, Susan T; Ferrucci, Leah M

2015-12-01

As a marker of genetic susceptibility and shared lifestyle characteristics, family history of cancer is often used to evaluate an individual's risk for developing a particular malignancy. With comprehensive data on pigment characteristics, lifestyle factors, and melanocortin 1 receptor (MC1R) gene sequence, we sought to clarify the role of family history of skin cancer in early-onset basal cell carcinoma (BCC). Early onset BCC cases (n=376) and controls with benign skin conditions (n=383) under age 40 were identified through Yale dermatopathology. Self-report data on family history of skin cancer (melanoma and non-melanoma skin cancer), including age of onset in relatives, was available from a structured interview. Participants also provided saliva samples for sequencing of MC1R. A family history of skin cancer was associated with an increased risk of early-onset BCC (OR 2.49, 95% CI 1.80-3.45). In multivariate models, family history remained a strong risk factor for early-onset BCC after adjustment for pigment characteristics, UV exposure, and MC1R genotype (OR 2.41, 95% CI 1.74-3.35). Risk for BCC varied based upon the type and age of onset of skin cancer among affected relatives; individuals with a first-degree relative diagnosed with skin cancer prior to age 50 were at highest risk for BCC (OR 4.79, 95% CI 2.90-7.90). Even after taking into account potential confounding effects of MC1R genotype and various lifestyle factors that close relatives may share, family history of skin cancer remained strongly associated with early-onset BCC. Copyright © 2015. Published by Elsevier Ltd.

Family history of melanoma and Parkinson disease risk

PubMed Central

Gao, X; Simon, K C.; Han, J; Schwarzschild, M A.; Ascherio, A

2009-01-01

Background: Co-occurrence of Parkinson disease (PD) and melanoma has been reported in numerous studies. If this was due to common genetic mechanisms, a positive family history of melanoma would be associated with an excessive PD risk, independent of environmental risk factors for PD. Methods: We prospectively examined associations between a family history of melanoma and PD among 157,036 men and women free of PD at baseline (1990 for men and 1982 for women) who participated in 2 ongoing US cohorts: the Health Professional Follow-up Study and the Nurses' Health Study. Information on family history of melanoma in parents or siblings was assessed via questionnaire. Relative risks and 95% confidence intervals were estimated using Cox proportional hazards models and pooled using a fixed-effects model. Results: During 14–20 years follow-up, we identified 616 incident PD cases. A family history of melanoma in a first-degree relative was associated with a higher risk of PD (multivariate relative risk = 1.85; 95% confidence interval: 1.2, 2.8; p = 0.004), after adjusting for smoking, ethnicity, caffeine intake, and other covariates. In contrast, we did not observe significant associations between a family history of colorectal, lung, prostate, or breast cancer and PD risk. Interactions between melanoma family history and age, smoking, or caffeine intake were not significant and subgroup analyses according to these factors generated similar results. Conclusions: Our findings support the notion that melanoma and Parkinson disease (PD) share common genetic components. The genetic determinants of melanoma could therefore be explored as susceptibility candidate genes for PD. GLOSSARY BMI = body mass index; CDK = cyclin dependent kinase; CI = confidence interval; HPFS = Health Professional Follow-up Study; NHS = Nurses' Health Study; OR = odds ratio; PD = Parkinson disease; RR = relative risk; SER = standardized event ratio. PMID:19841380

Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.

PubMed

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.

Sudden arrhythmic death syndrome: diagnostic yield of comprehensive clinical evaluation of pediatric first-degree relatives.

PubMed

Giudici, Valentina; Spanaki, Adriani; Hendry, Jennifer; Mead-Regan, Sarah; Field, Ella; Zuccotti, Gian Vincenzo; Abrams, Dominic; Lowe, Martin; Kaski, Juan Pablo

2014-12-01

Sudden arrhythmic death syndrome (SADS) is most often caused by heritable cardiac diseases. Studies in adults have identified evidence of inherited cardiovascular diseases in up to 53% of families, but data on the prevalence of familial disease in children are scarce. The aim of this study was to evaluate the yield of clinical screening in pediatric first-degree relatives of victims of SADS using a systematic and comprehensive protocol. Patients referred for family screening after sudden cardiac death (SCD) of a family member were, retrospectively, enrolled into the study. Systematic evaluation of the children included clinical examination, family history, electrocardiogram (ECG), echocardiogram, 24-hour tape, and signal-averaged ECG. Older patients also underwent exercise testing, cardiac magnetic resonance imaging, and ajmaline provocation testing. A total of 90 children from 52 consecutive families were included in the study. An inherited cardiac disease was identified in seven first-degree children from seven (13.5%) families (five children were diagnosed with Brugada syndrome, one with long QT syndrome, and one with catecholaminergic polymorphic ventricular tachycardia). Two further children had late potentials on signal-averaged ECGs with no other abnormalities. These data show a high prevalence of inherited heart disease in pediatric first-degree relatives of SADS victims. The results highlight the importance of a systematic, comprehensive approach and ongoing screening of pediatric family members. ©2014 Wiley Periodicals, Inc.

Heavy cigarette smoking is strongly associated with rheumatoid arthritis (RA), particularly in patients without a family history of RA.

PubMed

Hutchinson, D; Shepstone, L; Moots, R; Lear, J T; Lynch, M P

2001-03-01

To investigate the potential relation between cumulative exposure to cigarette smoking in patients with or without rheumatoid arthritis (RA) and a positive family history of the disease. 239 outpatient based patients with RA were compared with 239 controls matched for age, sex, and social class. A detailed smoking history was recorded and expressed as pack years smoked. Conditional logistic regression was used to calculate the association between RA and pack years smoked. The patients with RA were also interviewed about a family history of disease and recorded as positive if a first or second degree relative had RA. The smoking history at the time of the study of the patients with RA with or without a family history of the disease was compared directly with that of their respective controls. Patients with RA with or without a family history of the disease were also compared retrospectively for current smoking at the time of disease onset. An increasing association between increased pack years smoked and RA was found. There was a striking association between heavy cigarette smoking and RA. A history for 41-50 pack years smoked was associated with RA (odds ratio (OR) 13.54, 95% confidence interval (95% CI) 2.89 to 63.38; p<0.001). The association between ever having smoked and RA was modest (OR 1.81, CI 1.22 to 2.19; p=0.002). Furthermore, cigarette smoking in the patients with RA without a positive family history of RA was more prevalent than in the patients with a positive family history of RA for ever having smoked (72% v 54%; p=0.006), the number of pack years smoked (median 25.0 v 4.0; p<0.001), and for smoking at the time of disease onset (58% v 39%; p=0.003). Heavy cigarette smoking, but not smoking itself, is strongly associated with RA requiring hospital follow up and is markedly more prevalent in patients with RA without a family history of RA.

Lower Relative Contribution of Positive Family History to Colorectal Cancer Risk with Increasing Age: A Systematic Review and Meta-Analysis of 9.28 Million Individuals.

PubMed

Wong, Martin C S; Chan, C H; Lin, Jiayan; Huang, Jason L W; Huang, Junjie; Fang, Yuan; Cheung, Wilson W L; Yu, C P; Wong, John C T; Tse, Gary; Wu, Justin C Y; Chan, Francis K L

2018-06-05

Existing algorithms predicting the risk of colorectal cancer (CRC) assign a fixed score for family history of CRC. Whether the increased CRC risk attributed to family history of CRC was higher in younger patients remains inconclusive. We examined the risk of CRC associated with family history of CRC in first-degree relative (FDR) according to the age of index subjects (<40 vs. ≥40; <50 vs. ≥50; and <60 vs. ≥60 years). Ovid Medline, EMBASE, and gray literature from the reference lists of all identified studies were searched from their inception to March 2017. We included case-control/cohort studies that investigated the relationship between family history of CRC in FDR and prevalence of CRC. Two reviewers independently selected articles according to the PRISMA guideline. A random effects meta-analysis pooled relative risks (RR). We analyzed 9.28 million subjects from 63 studies. A family history of CRC in FDR confers a higher risk of CRC (RR = 1.76, 95% CI = 1.57-1.97, p < 0.001). This increased risk was higher in younger individuals (RR = 3.29, 95% CI = 1.67-6.49 for <40 years versus RR = 1.42, 95% CI = 1.24-1.62 for ≥40 years, p = 0.017; RR = 2.81, 95% CI = 1.94-4.07 for <50 years versus RR = 1.47, 95% CI = 1.28-1.69 for ≥50 years, p = 0.001). No publication bias was identified, and the findings are robust in subgroup analyses. The increase in relative risk of CRC attributed to family history was found to be higher in younger individuals. Family history of CRC could be assigned a higher score for younger subjects in CRC risk prediction algorithms. Future studies should examine if such approach may improve their predictive capability.

Consanguinity and family clustering of male factor infertility in Lebanon.

PubMed

Inhorn, Marcia C; Kobeissi, Loulou; Nassar, Zaher; Lakkis, Da'ad; Fakih, Michael H

2009-04-01

To investigate the influence of consanguineous marriage on male factor infertility in Lebanon, where rates of consanguineous marriage remain high (29.6% among Muslims, 16.5% among Christians). Clinic-based, case-control study, using reproductive history, risk factor interview, and laboratory-based semen analysis. Two IVF clinics in Beirut, Lebanon, during an 8-month period (January-August 2003). One hundred twenty infertile male patients and 100 fertile male controls, distinguished by semen analysis and reproductive history. None. Standard clinical semen analysis. The rates of consanguineous marriage were relatively high among the study sample. Patients (46%) were more likely than controls (37%) to report first-degree (parental) and second-degree (grandparental) consanguinity. The study demonstrated a clear pattern of family clustering of male factor infertility, with patients significantly more likely than controls to report infertility among close male relatives (odds ratio = 2.58). Men with azoospermia and severe oligospermia showed high rates of both consanguinity (50%) and family clustering (41%). Consanguineous marriage is a socially supported institution throughout the Muslim world, yet its relationship to infertility is poorly understood. This study demonstrated a significant association between consanguinity and family clustering of male factor infertility cases, suggesting a strong genetic component.

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

PubMed Central

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

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

PubMed

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 <12 months before inclusion, N=6869), and response to methotrexate (MTX) monotherapy in the subset starting this treatment (N=4630). Response to tumour necrosis factor inhibitors (TNFi) was examined among all patients with RA starting a TNFi as the first biological disease-modifying antirheumatic drug 2000-2011 (N=9249). Association of family history with 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/

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

PubMed

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.

Differences in risk factors for 2nd and 3rd degree hypospadias in the National Birth Defects Prevention Study

PubMed Central

in 't Woud, Sander Groen; van Rooij, Iris A.L.M.; van Gelder, Marleen M.H.J.; Olney, Richard S.; Carmichael, Suzan L.; Roeleveld, Nel; Reefhuis, Jennita

2015-01-01

Background Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. Methods A wide variety of data on maternal and pregnancy-related risk factors for isolated second and third degree hypospadias was collected via computer-assisted telephone interviews to identify potential etiological differences between the two phenotypes. Logistic regression was used to calculate odds ratios including a random effect by study center. Results In total, 1547 second degree cases, 389 third degree cases, and 5183 male controls were included in our study. Third degree cases were more likely to have a non-Hispanic black or Asian/Pacific Islander mother, be delivered preterm, have a low birth weight, be small for gestational age, and be conceived with fertility treatments than second degree cases and controls. Associations with both second and third degree hypospadias were observed for maternal age, family history, parity, plurality, and hypertension during pregnancy. Risk estimates were generally higher for third degree hypospadias except for family history. Conclusions Most risk factors were associated with both or neither phenotype. Therefore, it is likely that the underlying mechanism is at least partly similar for both phenotypes. However, some associations were different between 2nd and 3rd degree hypospadias, and went in opposite directions for second and third degree hypospadias for Asian/Pacific Islander mothers. Effect estimates for subtypes of hypospadias may be over- or underestimated in studies without stratification by phenotype. PMID:25181604

Women with family cancer history are at risk for poorer physical quality of life and lower self-efficacy: a longitudinal study among men and women with non-small cell lung cancer.

PubMed

Banik, Anna; Schwarzer, Ralf; Pawlowska, Izabela; Boberska, Monika; Cieslak, Roman; Luszczynska, Aleksandra

2017-04-04

We investigated the determinants of trajectories of physical symptoms related to lung cancer (a quality of life [QOL] aspect) and self-efficacy among patients with non-small cell lung cancer (NSCLC). It was hypothesized that gender and family cancer history in first-degree relatives would have synergistic effects on QOL-lung cancer specific symptoms and self-efficacy. Women with family cancer history were expected to be at risk of poorer adjustment. Quantitative, longitudinal design was applied. Participants provided their responses at 3-4 days after surgery, 1-month follow-up, and 4-month follow-up. We recruited 102 in-patients (men: 51%) with NSCLC who underwent surgery aimed at removing a lung tumor. Self-report data were collected with QLQ-LC13 and a scale for self-efficacy for managing illness. Mixed-models analysis indicated that trajectories of physical quality of life (symptoms of lung cancer) as well as self-efficacy were unfavorable among women with family cancer history. Among NSCLC patients, gender and family cancer history may be considered basic screening criteria for identifying groups of patients at risk for poorer physical QOL (higher level of physical symptoms related to lung cancer) and lower incline of self-efficacy after cancer surgery.

Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History.

PubMed

Sud, Amit; Thomsen, Hauke; Sundquist, Kristina; Houlston, Richard S; Hemminki, Kari

2017-05-10

Purpose Although advances in Hodgkin lymphoma (HL) treatment have led to improved disease-free survival, this has been accompanied by an increased risk of second cancers. We sought to quantify the second cancer risks and to investigate the impact of family history. Patients and Methods Using the Swedish Family-Cancer Project Database, we identified 9,522 individuals with primary HL diagnosed between 1965 and 2012. We calculated standardized incidence ratios and cumulative incidence of second cancer in HL survivors and compared the standardized incidence ratios of lung, breast, colorectal, and all second cancers in HL survivors with and without a site-specific family history of cancer. Interactions between family history of cancer and HL treatment were evaluated under additive and multiplicative models. Results Overall, the risk of a second cancer in HL survivors was increased 2.39-fold (95% CI, 2.29 to 2.53). The 30-year cumulative incidence of breast cancer in women diagnosed with HL at younger than 35 years of age was 13.8%. We observed no significant difference in cancer risk over successive time periods. The risk of all second cancers was 1.3-fold higher for HL survivors with a first-degree relative with cancer ( P < .001), with 3.3-fold, 2.1-fold, and 1.8-fold differences shown for lung, colorectal, and breast cancers, respectively. Moreover, a greater than additive interaction between family history of lung cancer and HL treatment was shown ( P = .03). Conclusion HL survivorship is associated with a substantive risk of a second cancer. Notably, the risk is higher in individuals with a family history of cancer. This information should be used to inform risk-adapted therapy and to assist in screening to reduce long-term morbidity and mortality in patients with HL.

Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History

PubMed Central

Sud, Amit; Thomsen, Hauke; Sundquist, Kristina; Houlston, Richard S.; Hemminki, Kari

2017-01-01

Purpose Although advances in Hodgkin lymphoma (HL) treatment have led to improved disease-free survival, this has been accompanied by an increased risk of second cancers. We sought to quantify the second cancer risks and to investigate the impact of family history. Patients and Methods Using the Swedish Family-Cancer Project Database, we identified 9,522 individuals with primary HL diagnosed between 1965 and 2012. We calculated standardized incidence ratios and cumulative incidence of second cancer in HL survivors and compared the standardized incidence ratios of lung, breast, colorectal, and all second cancers in HL survivors with and without a site-specific family history of cancer. Interactions between family history of cancer and HL treatment were evaluated under additive and multiplicative models. Results Overall, the risk of a second cancer in HL survivors was increased 2.39-fold (95% CI, 2.29 to 2.53). The 30-year cumulative incidence of breast cancer in women diagnosed with HL at younger than 35 years of age was 13.8%. We observed no significant difference in cancer risk over successive time periods. The risk of all second cancers was 1.3-fold higher for HL survivors with a first-degree relative with cancer (P < .001), with 3.3-fold, 2.1-fold, and 1.8-fold differences shown for lung, colorectal, and breast cancers, respectively. Moreover, a greater than additive interaction between family history of lung cancer and HL treatment was shown (P = .03). Conclusion HL survivorship is associated with a substantive risk of a second cancer. Notably, the risk is higher in individuals with a family history of cancer. This information should be used to inform risk-adapted therapy and to assist in screening to reduce long-term morbidity and mortality in patients with HL. PMID:28384078

Diet, Lifestyles, Family History, and Prostate Cancer Incidence in an East Algerian Patient Group

PubMed Central

Lassed, Somia; Deus, Cláudia M.; Lourenço, Nuno; Dahdouh, Abderrezak

2016-01-01

Prostate cancer (PC) is the fourth most common cancer in men and the sixth leading cause of death in Algeria. To examine the relationship between lifestyle factors, including diet, and family history and PC risk, a case-control study was performed in an eastern Algerian population, comprising 90 patients with histologically confirmed PC and 190 controls. Data collection was carried out through a structured questionnaire and statistical analysis was performed to evaluate the different variables. The data showed that consumption of lamb and beef meat and high intake of animal fat and dairy products increased PC risk. Seven to thirteen vegetables servings per week and fourteen or more servings decreased PC risk by 62% and 96%, respectively. Seven to fourteen fruit servings per week decrease PC risk by 98%. Green tea consumption reduced the risk of PC but the results were statistically borderline. Increased risk was observed for individuals with family history of PC in first and in second degree. A positive strong association was also found for alcohol and smoking intake and a dose-response relationship existed for quantity and history of smoking. This study suggests that dietary habits, lifestyle factors, and family history have influence on the development of PC in Algerian population. PMID:27975054

Diet, Lifestyles, Family History, and Prostate Cancer Incidence in an East Algerian Patient Group.

PubMed

Lassed, Somia; Deus, Cláudia M; Lourenço, Nuno; Dahdouh, Abderrezak; Rizvanov, Albert A; Oliveira, Paulo J; Zama, Djamila

2016-01-01

Prostate cancer (PC) is the fourth most common cancer in men and the sixth leading cause of death in Algeria. To examine the relationship between lifestyle factors, including diet, and family history and PC risk, a case-control study was performed in an eastern Algerian population, comprising 90 patients with histologically confirmed PC and 190 controls. Data collection was carried out through a structured questionnaire and statistical analysis was performed to evaluate the different variables. The data showed that consumption of lamb and beef meat and high intake of animal fat and dairy products increased PC risk. Seven to thirteen vegetables servings per week and fourteen or more servings decreased PC risk by 62% and 96%, respectively. Seven to fourteen fruit servings per week decrease PC risk by 98%. Green tea consumption reduced the risk of PC but the results were statistically borderline. Increased risk was observed for individuals with family history of PC in first and in second degree. A positive strong association was also found for alcohol and smoking intake and a dose-response relationship existed for quantity and history of smoking. This study suggests that dietary habits, lifestyle factors, and family history have influence on the development of PC in Algerian population.

Central American mothers report family history of depression and alcohol abuse as a predictor of teenage health risk behaviors.

PubMed

Maradiegue, Ann

2010-10-01

The purpose of this study was to explore the relationships of family history of depression and alcohol abuse as a predictor of health risk behaviors among Central American teenagers. Demographic data were collected from a convenience sample of 101 Central American mothers with a teenage daughter ages 12-17 years who were living in Northern Virginia. The research questions assessed the family history of depression, alcohol abuse, and maternal depression. Scores were calculated to predict risk of teenage health risk behaviors. The Hispanic mothers in this study reported that their teenagers had significant health risk behaviors, including school dropout and expulsion, alcohol and substance use, pregnancy, and gang membership. Family history of depression and alcohol abuse in a first degree relative predicted teenage risk behavior 71% of the time. There is no consensus on a standard screening approach for depression in teenagers. Developing a standardized approach to gathering information from teenagers that includes genetic family traits may have significant effects on interventions for teenage health risk behavior and ways to provide the best services for vulnerable teenagers. The results of this study have implications for nurse practitioners caring for teenagers. ©2010 The Author(s) Journal compilation ©2010 American Academy of Nurse Practitioners.

INTERRELATIONSHIP BETWEEN FAMILY HISTORY OF ALCOHOLISM AND GENERATIONAL STATUS IN THE PREDICTION OF ALCOHOL DEPENDENCE IN U.S. HISPANICS

PubMed Central

Chartier, Karen G.; Thomas, Nathaniel S.; Kendler, Kenneth S.

2017-01-01

Background Both a family history of alcoholism and migration-related factors like U.S. versus 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 U.S. Methods Data were from the wave 1 and wave 2 National Epidemiologic Survey on Alcohol and Related Conditions (NESARC). Subjects self-identified Hispanic ethnicity (N = 4,122; n = 1,784 first, n = 1,169 second, and n = 1,169 third or later generation) and reported ever consuming 12 or more drinks in a one-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. Results 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 U.S., 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. Conclusions Familial alcoholism interacted with generational status in predicting alcohol dependence symptoms in U.S. 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. PMID:27681653

Childhood Sleepwalking and Sleep Terrors: A Longitudinal Study of Prevalence and Familial Aggregation.

PubMed

Petit, Dominique; Pennestri, Marie-Hélène; Paquet, Jean; Desautels, Alex; Zadra, Antonio; Vitaro, Frank; Tremblay, Richard E; Boivin, Michel; Montplaisir, Jacques

2015-07-01

Childhood sleepwalking and sleep terrors are 2 parasomnias with a risk of serious injury for which familial aggregation has been shown. To assess the prevalence of sleepwalking and sleep terrors during childhood; to investigate the link between early sleep terrors and sleepwalking later in childhood; and to evaluate the degree of association between parental history of sleepwalking and presence of somnambulism and sleep terrors in children. Sleep data from a large prospective longitudinal cohort (the Quebec Longitudinal Study of Child Development) of 1940 children born in 1997 and 1998 in the province were studied from March 1999 to March 2011. Prevalence of sleep terrors and sleepwalking was assessed yearly from ages 1 1/2 and 2 1/2 years, respectively, to age 13 years through a questionnaire completed by the mother. Parental history of sleepwalking was also queried. The peak of prevalence was observed at 1 1/2 years for sleep terrors (34.4% of children; 95% CI, 32.3%-36.5%) and at age 10 years for sleepwalking (13.4%; 95% CI, 11.3%-15.5%). As many as one-third of the children who had early childhood sleep terrors developed sleepwalking later in childhood. The prevalence of childhood sleepwalking increases with the degree of parental history of sleepwalking: 22.5% (95% CI, 19.2%-25.8%) for children without a parental history of sleepwalking, 47.4% (95% CI, 38.9%-55.9%) for children who had 1 parent with a history of sleepwalking, and 61.5% (95% CI, 42.8%-80.2%) for children whose mother and father had a history of sleepwalking. Moreover, parental history of sleepwalking predicted the incidence of sleep terrors in children as well as the persistent nature of sleep terrors. These findings substantiate the strong familial aggregation for the 2 parasomnias and lend support to the notion that sleepwalking and sleep terrors represent 2 manifestations of the same underlying pathophysiological entity.

[Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].

PubMed

Rong, Wei-ning; Sheng, Xun-lun; Liu, Ya-ni

2012-10-01

To analyse the mode of inheritance and clinical characteristics of retinitis pigmentosa (RP) patients with consanguineous marriage. RP patients were recruited for this study in Ningxia Eye Hospital from September 2009 to July 2011. All patients received complete ophthalmic examination. The mode of inheritance were determined based on family history and marriage history. Clinical features were characterized by complete ophthalmic examinations including visual acuity, macular OCT, visual field and electroretinogram (ERG). A total of 143 individuals with RP (33 families) were recruited. Based on analysis of family history and marriage history, 20 RP families (23 patients) had consanguineous marriage history accounted for 60.6% RP families (16.1% RP patients). There were 4 patients (from 4 families) diagnosed as Usher syndrome. In 20 RP families with consanguineous marriage history, 7 families (35.0%) were Hui ethnicity and 13 families (65%) were Han ethnicity. The marriages of 15 families were between first cousins and 3 families were between second cousins, only 2 families were between half cousins matrimony. Of 23 RP patients, 12 were males and 11 were females. The average age of onset was 11.4 ± 6.8 years and the average age of recruitment was (32.0 ± 13.5) years. The best-corrected visual acuity was less than 0.6 in 78.2% patients. According to the features of the fundus, 13 patients were classical retinitis pigmentosa and 10 patients were retinitis pigmentosa sine pigmento. Visual field examination showed that all patients had varying degrees of peripheral visual field defect. Retinal neuroepithelial layer of macular and peripheral retina became thinner and retinal photoreceptors were disappeared. The average thickness of macular fovea was (186.1 ± 78.7) µm on right eyes and (187.4 ± 76.3) µm on left eyes. The incidence of RP with consanguineous marriages was high in Ningxia Region. The mode of inheritance of RP patients with consanguinity is autosomal recessive. The common marriage pattern of consanguinity is between first cousins. The age of onset is early and the ocular fundus changes of some patients are atypical, this should be paid attention clinically.

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

PubMed

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 awareness and integral part of the local general practitioners' e-referral system for colonic imaging.

Cancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status.

PubMed

Helgadottir, Hildur; Tuominen, Rainer; Olsson, Håkan; Hansson, Johan; Höiom, Veronica

2017-11-01

Worse outcomes have been noted in patients with multiple primary melanomas (MPMs) than in patients with single primary melanomas. We investigated how family history of melanoma and germline CDKN2A mutation status of MPM patients affects risks of developing subsequent melanomas and other cancers and survival outcomes. Comprehensive data on cancer diagnoses and deaths of MPM patients, their first-degree relatives, and matched controls were obtained through Swedish national health care and population registries. Familial MPM cases with germline CDKN2A mutations were youngest at the diagnosis of their second melanoma (median age 42 years) and had among the MPM cohorts the highest relative risks (RR) compared to controls of developing >2 melanomas (RR 238.4, 95% CI 74.8-759.9). CDKN2A mutated MPM cases and their first-degree relatives were the only cohorts with increased risks of nonskin cancers compared to controls (RR 3.6, 95% CI 1.9-147.1 and RR 3.2, 95% CI 1.9-5.6, respectively). In addition, CDKN2A mutated MPM cases had worse survival compared with both cases with familial (HR 3.0, 95% CI 1.3-8.1) and sporadic wild-type MPM (HR 2.63, 95% CI 1.3-5.4). Our study examined outcomes in subgroups of MPM patients, which affected the sample size of the study groups. This study demonstrates that CDKN2A mutation status and family history of melanoma significantly affects outcomes of MPM patients. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

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

PubMed

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, P<0.001; 0.81±0.29 vs 0.72±0.33 μg lipid per cell, P=0.01, respectively), this was confounded by FDR of T2DM being older, having greater body mass index and percent body fat. A family history 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, P<0.0001), but not in males. A family history 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.

Familial testicular germ cell tumor: no associated syndromic pattern identified

PubMed Central

2014-01-01

Background Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT. Methods We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies. Results The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected. Conclusions Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility. PMID:24559313

Multiple myeloma and family history of lymphohaematopoietic cancers: Results from the International Multiple Myeloma Consortium.

PubMed

Schinasi, Leah H; Brown, Elizabeth E; Camp, Nicola J; Wang, Sophia S; Hofmann, Jonathan N; Chiu, Brian C; Miligi, Lucia; Beane Freeman, Laura E; de Sanjose, Silvia; Bernstein, Leslie; Monnereau, Alain; Clavel, Jacqueline; Tricot, Guido J; Atanackovic, Djordje; Cocco, Pierluigi; Orsi, Laurent; Dosman, James A; McLaughlin, John R; Purdue, Mark P; Cozen, Wendy; Spinelli, John J; de Roos, Anneclaire J

2016-10-01

Family clusters of multiple myeloma (MM) suggest disease heritability. Nevertheless, patterns of inheritance and the importance of genetic versus environmental risk factors in MM aetiology remain unclear. We pooled data from eleven case-control studies from the International Multiple Myeloma Consortium to characterize the association of MM risk with having a first-degree relative with a history of a lympho-haematapoietic cancer. Unconditional logistic regression models, adjusted for study, sex, age and education level, were used to estimate associations between MM risk and having a first-degree relative with a history of non-Hodgkin lymphoma, Hodgkin lymphoma, leukaemia or MM. Sex, African American race/ethnicity and age were explored as effect modifiers. A total of 2843 cases and 11 470 controls were included. MM risk was elevated in association with having a first-degree relative with any lympho-haematapoietic cancer (Odds Ratio (OR) = 1·29, 95% Confidence Interval (CI): 1·08-1·55). The association was particularly strong for having a first-degree relative with MM (OR = 1·90, 95% CI: 1·26-2·87), especially among men (OR = 4·13, 95% CI: 2·17-7·85) and African Americans (OR = 5·52, 95% CI: 1·87-16·27).These results support the hypothesis that genetic inheritance plays a role in MM aetiology. Future studies are warranted to characterize interactions of genetic markers with environmental exposures. © 2016 John Wiley & Sons Ltd.

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

PubMed

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

2014-03-01

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

Addition of a novel, protective family history category allows better profiling of cardiovascular risk and atherosclerotic burden in the general population. The Asklepios Study.

PubMed

Van daele, Caroline M; De Meyer, Tim; De Buyzere, Marc L; Gillebert, Thierry C; Denil, Simon L I J; Bekaert, Sofie; Chirinos, Julio A; Segers, Patrick; De Backer, Guy G; De Bacquer, Dirk; Rietzschel, Ernst R

2013-01-01

Whereas the importance of family history (FH) is widely recognized in cardiovascular risk assessment, its full potential could be underutilized, when applied with its current simple guidelines-based definition (cFH): presence of premature cardiovascular disease (CVD) in a first-degree relative. We tested the added value of a new, extended family history definition (eFH), also taking into account later onset of disease, second-degree relatives and number of affected relatives, on profiling cardiovascular risk and atherosclerotic burden in the general population. Longitudinal population study. Random, representative population sample from Erpe-Mere and Nieuwerkerken (Belgium, primary care). 2524 male/female volunteers, aged 35-55 years, free from overt CVD. Subjects were extensively phenotyped including presence of atherosclerosis (ultrasound) and a newly developed FH questionnaire (4 generations). Compared to cFH, eFH was superior in predicting an adverse risk profile (glycemic state, elevated blood pressure, lipid abnormalities, presence of metabolic syndrome components) and presence of atherosclerosis (all age & sex-adjusted p<0.05). Unlike cFH, eFH remained a significant predictor of subclinical atherosclerosis after adjusting for confounders. Most relations with eFH were not graded but showed clear informational breakpoints, with absence of CVD (including late onset) in any first-degree relative being a negative predictor of atherosclerosis, and a particularly interesting phenotype for further study. A novel, extended FH definition is superior to the conventional definition in profiling cardiovascular risk and atherosclerotic burden in the general population. There remain clear opportunities to refine and increase the performance and informational content of this simple, readily-available inexpensive tool.

Sweet preferences and analgesia during childhood: effects of family history of alcoholism and depression

PubMed Central

Mennella, Julie A.; Pepino, M. Yanina; Lehmann-Castor, Sara M.; Yourshaw, Lauren M.

2010-01-01

Aim To determine whether depression and family history of alcoholism are associated with heightened sweet preferences in children, before they have experienced alcohol or tobacco and at a time during the life-span when sweets are particularly salient. Design Between- and within-subject experimental study. Participants Children, 5–12 years old (n = 300), formed four groups based on family history of alcohol dependence up to second-degree relatives [positive (FHP) versus negative (FHN)] and depressive symptoms as determined by the Pictorial Depression Scale [depressed (PDEP) versus non-depressed (NDEP)]. Measurements Children were tested individually to measure sucrose preferences, sweet food liking and, for a subset of the children, the analgesic properties of sucrose versus water during the cold pressor test. Findings The co-occurrence of having a family history of alcoholism and self-reports of depressive symptomatology was associated significantly with a preference for a more concentrated sucrose solution, while depressive symptomatology alone was associated with greater liking for sweet-tasting foods and candies and increased pain sensitivity. Depression antagonized the analgesic properties of sucrose. Conclusions While children as a group innately like sweets and feel better after eating them, the present study reveals significant contributions of family history of alcoholism and depression to this effect. Whether the heightened sweet preference and the use of sweets to alleviate depression are markers for developing alcohol-related problems or responses that are protective are important areas for future research. PMID:20148789

Analysis of recently identified prostate cancer susceptibility loci in a population-based study: Associations with family history and clinical features

PubMed Central

FitzGerald, Liesel M.; Kwon, Erika M.; Koopmeiners, Joseph S.; Salinas, Claudia A.; Stanford, Janet L.; Ostrander, Elaine A.

2009-01-01

Purpose Two recent genome-wide association studies have highlighted several SNPs purported to be associated with prostate cancer risk. We investigated the significance of these SNPs in a population-based study of Caucasian men, testing the effects of each SNP in relation to family history of prostate cancer and clinicopathological features of disease. Experimental Design We genotyped 13 SNPs in 1,308 prostate cancer patients and 1,267 unaffected controls frequency matched to cases by five-year age groups. The association of each SNP with disease risk and stratified by family history of prostate cancer and clinicopathological features of disease was calculated using logistic and polytomous regression. Results These results confirm the importance of multiple previously reported SNPs in relation to prostate cancer susceptibility; 11 of the 13 SNPs were significantly associated with risk of developing prostate cancer. However, none of the SNP associations were of comparable magnitude to that associated with having a first-degree family history of the disease. Risk estimates associated with SNPs rs4242382 and rs2735839 varied by family history, while risk estimates for rs10993994 and rs5945619 varied by Gleason score. Conclusions Our results confirm that several recently identified SNPs are associated with prostate cancer risk; however the variant alleles only confer a low to moderate relative risk of disease and are generally not associated with more aggressive disease features. PMID:19366831

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

PubMed

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.

Stratifying empiric risk of schizophrenia among first degree relatives using multiple predictors in two independent Indian samples.

PubMed

Bhatia, Triptish; Gettig, Elizabeth A; Gottesman, Irving I; Berliner, Jonathan; Mishra, N N; Nimgaonkar, Vishwajit L; Deshpande, Smita N

2016-12-01

Schizophrenia (SZ) has an estimated heritability of 64-88%, with the higher values based on twin studies. Conventionally, family history of psychosis is the best individual-level predictor of risk, but reliable risk estimates are unavailable for Indian populations. Genetic, environmental, and epigenetic factors are equally important and should be considered when predicting risk in 'at risk' individuals. To estimate risk based on an Indian schizophrenia participant's family history combined with selected demographic factors. To incorporate variables in addition to family history, and to stratify risk, we constructed a regression equation that included demographic variables in addition to family history. The equation was tested in two independent Indian samples: (i) an initial sample of SZ participants (N=128) with one sibling or offspring; (ii) a second, independent sample consisting of multiply affected families (N=138 families, with two or more sibs/offspring affected with SZ). The overall estimated risk was 4.31±0.27 (mean±standard deviation). There were 19 (14.8%) individuals in the high risk group, 75 (58.6%) in the moderate risk and 34 (26.6%) in the above average risk (in Sample A). In the validation sample, risks were distributed as: high (45%), moderate (38%) and above average (17%). Consistent risk estimates were obtained from both samples using the regression equation. Familial risk can be combined with demographic factors to estimate risk for SZ in India. If replicated, the proposed stratification of risk may be easier and more realistic for family members. Copyright © 2016. Published by Elsevier B.V.

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

PubMed

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

2016-08-01

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

Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood.

PubMed Central

Skovby, F; Micic, S; Jepsen, B; Larsen, S O; Hansen, B; Tegllund, L; Pedersen, B N

1991-01-01

A total of 3025 families with schoolchildren aged 6-8 years were offered pilot screening for familial hypercholesterolaemia by measurement of the concentrations of apolipoproteins A-1 and B in the children's capillary blood and by analysis of their family histories of early ischaemic heart disease. The concentrations of the apolipoproteins were determined by double rocket immunoelectrophoresis of an eluate of blood spotted on filter paper. Results were available from 2085 children. Because their B:A-1 ratio was above the 97.5 centile and their concentration of B was above the 99th centile, 54 children (2.6%) were selected to have their apolipoprotein concentrations reassessed. The 17 children (0.8%) whose values were persistently above the chosen cut off points, and all of their available first and second degree relatives, had fasting determinations of serum lipid concentrations carried out. Raised serum concentrations of low density lipoprotein cholesterol and an autosomal dominant pattern of hypercholesterolaemia were found in 12 children and 10 families, respectively, suggesting a higher incidence of familial hypercholesterolaemia than the reported 1:500. Further investigations among family members disclosed hypercholesterolaemia in 29 relatives. A family history of early ischaemic heart disease was elicited by questionnaire, and was positive in only five of the 12 schoolchildren with hypercholesterolaemia. We conclude that analysis of apolipoproteins from capillary blood spotted on filter paper is suitable for screening for familial hypercholesterolaemia, and that this method is more efficient than screening based on family history. PMID:1863097

Primary care physicians' use of family history for cancer risk assessment

PubMed Central

2010-01-01

Background Family history (FH) assessment is useful in identifying and managing patients at increased risk for cancer. This study assessed reported FH quality and associations with physician perceptions. Methods Primary care physicians practicing in two northeastern U.S. states were surveyed (n = 880; 70% response rate). Outcome measures of FH quality were extent of FH taken and ascertaining age at cancer diagnosis for affected family members. Predictors of quality measured in this survey included: perceived advantages and disadvantages of collecting FH information, knowledge of management options, access to supportive resources, and confidence in ability to interpret FH. Results Reported collection of information regarding second degree blood relatives and age of diagnosis among affected relatives was low. All hypothesized predictors were associated with measures of FH quality, but not all were consistent independent predictors. Perceived advantages of taking a family history, access to supportive resources, and confidence in ability to identify and manage higher risk patients were independent predictors of both FH quality measures. Perceived disadvantages of taking a family history was independently associated one measure of FH quality. Knowledge of management options was not independently associated with either quality measure. Conclusions Modifiable perception and resource factors were independently associated with quality of FH taking in a large and diverse sample of primary care physicians. Improving FH quality for identification of high risk individuals will require multi-faceted interventions. PMID:20525302

Primary care physicians' use of family history for cancer risk assessment.

PubMed

Flynn, Brian S; Wood, Marie E; Ashikaga, Takamaru; Stockdale, Alan; Dana, Greg S; Naud, Shelly

2010-06-03

Family history (FH) assessment is useful in identifying and managing patients at increased risk for cancer. This study assessed reported FH quality and associations with physician perceptions. Primary care physicians practicing in two northeastern U.S. states were surveyed (n = 880; 70% response rate). Outcome measures of FH quality were extent of FH taken and ascertaining age at cancer diagnosis for affected family members. Predictors of quality measured in this survey included: perceived advantages and disadvantages of collecting FH information, knowledge of management options, access to supportive resources, and confidence in ability to interpret FH. Reported collection of information regarding second degree blood relatives and age of diagnosis among affected relatives was low. All hypothesized predictors were associated with measures of FH quality, but not all were consistent independent predictors. Perceived advantages of taking a family history, access to supportive resources, and confidence in ability to identify and manage higher risk patients were independent predictors of both FH quality measures. Perceived disadvantages of taking a family history was independently associated one measure of FH quality. Knowledge of management options was not independently associated with either quality measure. Modifiable perception and resource factors were independently associated with quality of FH taking in a large and diverse sample of primary care physicians. Improving FH quality for identification of high risk individuals will require multi-faceted interventions.

Evidence for a genetic component in familial sarcoidosis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rybicki, B.A.; Harrington, D.; Major, M.

1994-09-01

Sarcoidosis is a disease with reported familial clustering, but a putative hereditary component has not been established. We analyzed 33 sarcoid index cases with a positive family history and their 596 1st and 2nd degree relatives to determine if the distribution of disease was consistent with a genetic etiology. Prevalence of sarcoidosis was twice as high in 1st degree relatives of index cases compared to 2nd degree relatives (8.5% vs. 3.9%; p=0.016). Recurrence risk ratios (defined as the risk of disease in relatives divided by the population prevalence) were calculated in 2nd degree relatives after making an ascertainment correction. Amore » single gene model fit the observed results better than a polygenic model for a range of sarcoidosis prevalance. A greater shared environment among siblings compared to parents and offspring did not appear to increase risk of sarcoidosis based on a higher prevalance of disease in the latter (7.1% vs. 10.7%; p=0.313). However, the age of diagnosis in affected parent-offspring pairs was more consistent with a combined genetic and environmental etiology than either component alone. In summary, these results suggest a genetic component, possibly a single gene, increases disease risk in family members of sarcoidosis cases. A segregation analysis is planned to more thoroughly evaluate the evidence for both genetic and non-genetic transmission of sarcoidosis in these families.« less

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

PubMed

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 to elucidate if there is a causative relationship or shared risk factors between prostate cancer and BE. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

Etiology of hippocampal sclerosis

PubMed Central

Tsai, Meng-Han; Pardoe, Heath R.; Perchyonok, Yuliya; Fitt, Gregory J.; Scheffer, Ingrid E.; Berkovic, Samuel F.

2013-01-01

Objective: We sought evidence of a hereditary component for hippocampal sclerosis (HS) by determining whether close relatives of probands with temporal lobe epilepsy (TLE) with HS also had asymptomatic HS or subtle variation in hippocampal morphology. Methods: First-degree relatives from 15 families in which probands had TLE with HS and 32 age- and sex-matched controls were included in the study. Left and right hippocampal volumes and T2 relaxometry were measured using 3-tesla MRI. Results: Thirty-two asymptomatic first-degree relatives and 3 relatives with a history of seizures or epilepsy were studied. None of the first-degree relatives had HS on visual analysis and T2 relaxation times were normal, excluding the presence of HS. Mean hippocampal volume was smaller (6.4%) in asymptomatic relatives (2.94 ± 0.27 cm3, 95% confidence interval = 2.87–3.01) than in controls (3.14 ± 0.22 cm3, 95% confidence interval = 3.09–3.19, p < 0.005); the effect was greater in relatives of probands with a positive family history of epilepsy. The relatives also had more asymmetric hippocampi (asymmetric index 0.92 ± 0.05) than controls (0.96 ± 0.03, p = 0.001). Conclusions: Small asymmetric hippocampi in healthy relatives are likely to represent a familial developmental variant that may predispose to the formation of TLE with HS. The underlying histopathology of these small hippocampi is unknown. This observation may provide an imaging marker for future studies seeking susceptibility genes for HS. PMID:23749796

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

PubMed

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.

Incidence and mortality of colorectal cancer in individuals with a family history of colorectal cancer.

PubMed

Schoen, Robert E; Razzak, Anthony; Yu, Kelly J; Berndt, Sonja I; Firl, Kevin; Riley, Thomas L; Pinsky, Paul F

2015-11-01

Little is known about the change in risk conferred by family history of colorectal cancer (CRC) as a person ages. We evaluated the effect of family history on CRC incidence and mortality after 55 years of age, when the risk of early onset cancer had passed. We collected data from participants in the randomized, controlled Prostate, Lung, Colorectal and Ovarian cancer screening trial of flexible sigmoidoscopy versus usual care (55-74 years old, no history of CRC), performed at 10 US centers from 1993 to 2001. A detailed family history of colorectal cancer was obtained at enrollment, and subjects were followed for CRC incidence and mortality for up to 13 years. Among 144,768 participants, 14,961 subjects (10.3%) reported a family of CRC. Of 2090 incident cases, 273 cases (13.1%) had a family history of CRC; among 538 deaths from CRC, 71 (13.2%) had a family history of CRC. Overall, family history of CRC was associated with an increased risk of CRC incidence (hazard ratio [HR], 1.30; 95% confidence interval [CI], 1.10-1.50; P<.0001) and increased mortality (HR, 1.31; 95% CI, 1.02-1.69; P = .03). Subjects with 1 first degree relative (FDR) with CRC (n = 238; HR, 1.23; 95% CI, 1.07-1.42) or ≥2 FDRs with CRC (n = 35; HR, 2.04; 95% CI, 1.44-2.86) were at increased risk for incident CRC. However, among individuals with 1 FDR with CRC, there were no differences in risk based on age at diagnosis in the FDR (for FDR <60 years of age: HR, 1.27; 95% CI, 0.97-1.63; for FDR 60-70 years of age: HR, 1.33; 95% CI, 1.06-1.62; for FDR >70 years of age: HR, 1.14; 95% CI, 0.93-1.45; P trend = .59). After 55 years of age, subjects with 1 FDR with CRC had only a modest increase in risk for CRC incidence and death; age of onset in the FDR was not significantly associated with risk. Individuals with ≥2 FDRs with CRC had continued increased risk in older age. Guidelines and clinical practice for subjects with a family history of CRC should be modified to align CRC testing to risk. ClinicalTrials.gov number, NCT00002540. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

Family history of diabetes and its relationship with insulin secretion and insulin sensitivity in Iraqi immigrants and native Swedes: a population-based cohort study.

PubMed

Bennet, Louise; Franks, Paul W; Zöller, Bengt; Groop, Leif

2018-03-01

Middle Eastern immigrants to western countries are at high risk of developing type 2 diabetes. However, the heritability and impact of first-degree family history (FH) of type 2 diabetes on insulin secretion and action have not been adequately described. Citizens of Malmö, Sweden, aged 30-75 years born in Iraq or Sweden were invited to participate in this population-based study. Insulin secretion (corrected insulin response and oral disposition index) and action (insulin sensitivity index) were assessed by oral glucose tolerance tests. In total, 45.7% of Iraqis (616/1348) and 27.4% of native Swedes (201/733) had FH in parent(s), sibling(s) or single parent and sibling, i.e., FH+. Approximately 8% of Iraqis and 0.7% of Swedes had ≥ 3 sibling(s) and parent(s) with diabetes, i.e., FH++. Irrespective of family size, prediabetes and diabetes increased with family burden (FH- 29.4%; FH+ 38.8%; FH++ 61.7%) without significant differences across ethnicities. With increasing level of family burden, insulin secretion rather than insulin action decreased. Individuals with a combination of ≥ 3 siblings and parents with diabetes presented with the lowest levels of insulin secretion. The Iraqi immigrant population often present with a strong familial burden of type 2 diabetes with the worst glycemic control and highest diabetes risk in individuals with ≥ 3 siblings and parents with diabetes. Our data show that in a population still free from diabetes familial burden influences insulin secretion to a higher degree than insulin action and may be a logical target for intervention.

The transtheoretical model, health belief model, and breast cancer screening among Iranian women with a family history of breast cancer.

PubMed

Farajzadegan, Ziba; Fathollahi-Dehkordi, Fariba; Hematti, Simin; Sirous, Reza; Tavakoli, Neda; Rouzbahani, Reza

2016-01-01

Participation of Iranian women with a family history of breast cancer in breast cancer screening programs is low. This study evaluates the compliance of women having a family history of breast cancer with clinical breast exam (CBE) according to the stage of transtheoretical model (TTM) and health belief model (HBM). In this cross-sectional study, we used Persian version of champion's HBM scale to collect factors associated with TTM stages applied to screening from women over 20 years and older. The obtained data were analyzed by SPSS, using descriptive statistics, Chi-square test, independent t -test, and analysis of covariance. Final sample size was 162 women. Thirty-three percent were in action/maintenance stage. Older women, family history of breast cancer in first-degree relatives, personal history of breast disease, insurance coverage, and a history of breast self-examination were associated with action/maintenance stage. Furthermore, women in action/maintenance stages had significantly fewer perceived barriers in terms of CBE in comparison to women in other stages ( P < 0.05). There was no significant difference in other HBM subscales scores between various stages of CBE screening behavior ( P > 0.05). The finding indicates that the rate of women in action/maintenance stage of CBE is low. Moreover, results show a strong association between perceived barriers and having a regular CBE. These clarify the necessity of promoting national target programs for breast cancer screening, which should be considered as the first preference for reducing CBE barriers.

The relationship of DSM-IV pathological gambling to compulsive buying and other possible spectrum disorders: results from the Iowa PG family study.

PubMed

Black, Donald W; Coryell, William; Crowe, Raymond; Shaw, Martha; McCormick, Brett; Allen, Jeff

2015-03-30

This study investigates the possible relationship between pathological gambling (PG) and potential spectrum disorders including the DSM-IV impulse control disorders (intermittent explosive disorder, kleptomania, pyromania, trichotillomania) and several non-DSM disorders (compulsive buying disorder, compulsive sexual behavior, Internet addiction). PG probands, controls, and their first-degree relatives were assessed with instruments of known reliability. Detailed family history information was collected on relatives who were deceased or unavailable. Best estimate diagnoses were assigned blind to family status. The results were analyzed using logistic regression by the method of generalized estimating equations. The sample included 95 probands with PG, 91 controls, and 1075 first-degree relatives (537 PG, 538 controls). Compulsive buying disorder and having "any spectrum disorder" were more frequent in the PG probands and their first-degree relatives vs. controls and their relatives. Spectrum disorders were significantly more prevalent among PG relatives compared to control relatives (adjusted OR=8.37), though much of this difference was attributable to the contribution from compulsive buying disorder. We conclude that compulsive buying disorder is likely part of familial PG spectrum. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

A cross-sectional study to determine the prevalence of obesity and other risk factors for type 2 diabetes among school children in Trinidad, West Indies.

PubMed

Batson, Yvonne Ann; Teelucksingh, Surujpal; Maharaj, Rohan G; Cockburn, Brian N

2014-08-01

Our previous work has shown that type 2 diabetes mellitus is a problem in the school-aged population of Trinidad, West Indies. The current study evaluated the prevalence in this population of selected risk factors for diabetes, viz: obesity, family history of diabetes and acanthosis nigricans. To assess the prevalence of the following risk factors for type 2 diabetes (T2DM) in school children in Trinidad: obesity, family history of diabetes in first- or second-degree relatives and the presence of acanthosis nigricans (AN). A cross-sectional survey was performed among school children aged 7-18 years from September 2009 to June 2010. A convenience sample was selected from a random sample of 32 schools drawn from all educational districts. A self-administered questionnaire was employed to record family history, gender and ethnicity. AN was assessed and scored clinically at the neck and obesity was measured by anthropometry and bio-impedance. There were 2130 participants in the study. Fifteen per cent were obese and 17% were overweight. Primary school children had a higher prevalence of obesity (22·9% vs 11·0%) and overweight (20·0% vs 15·6%) than secondary school children (P<0·05). A greater proportion of males than females had combined overweight/obesity as measured by BMI for age (35·8 vs 29·4%, P<0·05). The overall prevalence of AN was 43·4%. However, just over 18% of all school children have a degree of AN greater than grade 2, which clinically is readily recognisable. Females displayed this physical sign more commonly than males (P<0·05). The prevalences of a family history of diabetes in first- and second-degrees relatives were 11·0% and 1·1%, respectively. Forty-three per cent had one risk factor for diabetes, 23·1% had two and 2·9% had three. Risk factors for T2DM are very common among school children in Trinidad. More than 40% had at least one risk factor. Strategies aimed at reducing risk factors for T2DM, especially obesity, among Trinidadian school children are urgently warranted.

Familial aggregation of arthritis-related diseases in seropositive and seronegative rheumatoid arthritis: a register-based case-control study in Sweden

PubMed Central

Frisell, Thomas; Hellgren, Karin; Alfredsson, Lars; Raychaudhuri, Soumya; Klareskog, Lars; Askling, Johan

2015-01-01

Objectives Our objective was to estimate the risk of developing rheumatoid arthritis (RA) associated with a family history of non-RA arthritis-related diseases. This familial co-aggregation is of clinical interest since it is often encountered when assessing family history of RA specifically, but also informative on the genetic overlap between these diseases. Since anticitrullinated peptide antibodies/rheumatoid factor (RF)-positive and RF-negative RA have both specific and shared genetic factors, the familial co-aggregation was assessed separately for seropositive and seronegative disease. Methods Nested case-control study in prospectively recorded Swedish total population data. The Multi-Generation Register identified first-degree relatives. RA and arthritis-related diseases were ascertained through the nationwide patient register. RA serology was based on International Classification of Diseases tenth revision coded diagnoses, mainly reflecting RF. Familial risks were calculated using conditional logistic regression. Results were replicated using the Swedish rheumatology register. Results Familial co-aggregation was found between RA and every studied arthritis-related disease, but the magnitude varied widely, from juvenile idiopathic arthritis (JIA) (seropositive RA OR=3.98 (3.01 to 5.26); seronegative RA OR=5.70 (3.47 to 9.36)) to osteoarthritis (seropositive RA OR=1.03 (1.00 to 1.06); seronegative RA OR=1.05 (1.00 to 1.09)). The familial co-aggregation pattern of non-RA arthritis-related diseases was overall similar for seropositive and seronegative RA. Among those with family history of RA, relatives’ other arthritis-related diseases conferred little or no additional risk. Conclusions Although family history of several arthritis-related diseases may be useful to predict RA (eg, lupus and JIA), others (eg, osteoarthritis and arthralgia) are less useful. Seropositive and seronegative RA had rather similar familial co-aggregation patterns with arthritis-related diseases, suggesting that the two RA subsets are similar in the genetic factors that overlap with these diseases. PMID:25498119

Heart rate stress response dampening: the impact of alcohol, family history, and gender on at risk children and siblings.

PubMed

Croissant, Bernhard; Demmel, Ralf; Rist, Fred; Olbrich, Robert

2011-04-01

In the following study we tested the stress response dampening (SRD) model which postulates that stress responses are more likely to be attenuated by alcohol in individuals at risk for alcohol dependence than in persons without that risk. In a laboratory experiment we examined a) if SRD effects exist for both sons and healthy daughters of alcohol dependent fathers, and b) if SRD effects exist for siblings of alcohol dependent males. We recruited 104 subjects at risk and 51 matched control subjects. In a laboratory experiment, study subjects received alcohol in one of two laboratory sessions and a stress paradigm served to elicit heart rate stress responses. Heart rate stress responses were attenuated by alcohol in female family history positive (FHP) and female family history negative (FHN) subjects, however not in males. A multiple regression analysis revealed "Heart Rate Stress Response in the Non-Alcohol Condition" and "Blood Alcohol Level" as significant predictors of SRD. According to our findings, females carry a distinct risk for developing alcohol dependence, regardless of their family history and regardless of their degree of familial relationship. This is an important issue for devising models concerning the development and maintenance of alcohol dependence in females. The study extends the current research literature, which mainly focuses on male subjects at risk, by including female subjects at risk, as well as siblings at risk of both genders. Copyright © 2011 Elsevier B.V. All rights reserved.

Statistical Study to Investigate Women’s Preference in the Phraseology of Lifetime and Age Specific Risk of Developing Breast Cancer

DTIC Science & Technology

2001-10-25

anxiety, hypochondriasis, low self - esteem and a hypervigilant style of information processing, referred to as monitoring [7], have been associated with...collected through self -completed, postal questionnaires and responses were received from 137 out of 175 distributed questionnaires. Respondents had a...referral guidelines for family histories of breast cancer are [2]: • 1st degree relative (i.e. mother, sister) younger than 40; • 2nd degree paternal

Further Evidence for Robust Familiality of Pediatric Bipolar-I Disorder: Results from a Very Large Controlled Family Study of Pediatric Bipolar-I Disorder and a Meta-Analysis

PubMed Central

Wozniak, Janet; Faraone, Stephen V.; Martelon, MaryKate; McKillop, Hannah N.; Biederman, Joseph

2013-01-01

Objective To determine the risk for BP-I disorder in first-degree relatives of children with DSM-IV bipolar-I disorder (BP-I) via meta-analysis and expanded controlled study. Data Sources and Extraction Meta-Analysis We searched the Pubmed database for scientific articles published in the world literature in the English language through 2011. The key words searched were: bipolar disorder, first-degree relatives, family study, control. All online abstracts were reviewed and relevant full manuscripts were collected and reviewed. Citations were also examined for other potential relevant articles. We included only controlled family studies that examined rates of bipolar-I disorder in all first-degree relatives (parents and siblings) of pediatric bipolar-I probands and included only studies that had age and sex matched controls. Family history studies were excluded. Also excluded were studies that were not in English, did not report the rates of all first-degree relatives, and reported only bipolar spectrum rates. We also excluded family studies that included only adult probands. We conducted a meta-analysis of the five controlled family studies of pediatric BP-I probands that met our search criteria using the random effects model of DerSimonian and Laird. Method Family Study We greatly expanded our previous sample of DSM-IV BP-I probands using structured diagnostic interviews. Our new study included 239 children satisfying full with DSM-IV diagnostic criteria for BP-I (n=726 first-degree relatives), 162 ADHD (without BP-I) probands (n=511 first-degree relatives), and 136 healthy control (without ADHD or BP-I) probands (n=411 first-degree relatives). We used the Kaplan-Meier cumulative failure function to calculate survival curves and cumulative, lifetime risk in relatives. Cox proportional hazard models were used to calculate the risk of BP-I in relatives. Results The pooled odds ratio for BP-I disorder in relatives was estimated to be 6.96 (95% Confidence Interval (CI): 4.8 to 10.1). We also found first-degree relatives of BP-I probands to be significantly more likely than first-degree relatives of both ADHD (Hazards Ratio: 3.02; 95% CI: 1.85 to 4.93; p<0.001) and control probands (HR: 2.83; 1.65 to 4.84; p<0.001) to have bipolar-I disorder. Conclusion Our results document an increased familial risk for BP-I disorder in relatives of pediatric probands with DSM-IV BP-I. PMID:23140652

Vasovagal syncope in medical students and their first-degree relatives.

PubMed

Serletis, Anna; Rose, Sarah; Sheldon, Aaron G; Sheldon, Robert S

2006-08-01

To determine the effect of family history on the likelihood of vasovagal syncope. Sixty-two medical students and 228 first-degree relatives were studied. Vasovagal syncope was ascertained with the Calgary syncope symptom score. The effects of the sex of the subject and parental syncope history on the likelihood of offspring fainting were described using Kaplan-Meier estimates and analysed using proportional hazards regression. The prevalence of vasovagal syncope was 32% and the median age of first faint in those who fainted was 14 years. More females than males fainted [42 vs. 31%; P=0.02; hazard ratio (HR) 1.34 (95% CI 1.07-1.68)]. An individual with two fainting parents was more likely to faint than one with no fainting parents [P<0.0001; HR 3.4 (95% CI 1.7-7.03)]. In the proportional hazards model, offspring of either sex whose mother faints are more likely to faint than those whose mother does not faint [HR 2.86 (95% CI 1.54-5.31)]. Having a father who faints significantly increases the risk of syncope in sons [HR 4.12 (95%CI 1.39-12.31)], but not in daughters [HR 1.18 (95% CI 0.56-3.34)]. Family history and sex of subject are important predictors of vasovagal syncope in offspring.

Relationship between Breast Feeding and Obesity in Children with Low Birth Weight.

PubMed

Zarrati, Mitra; Shidfar, Farzad; Moradof, Maryam; Nasiri Nejad, Farinaz; Keyvani, Hossein; Rezaei Hemami, Mohsen; Razmpoosh, Elham

2013-08-01

Breast feeding appears to play a role in determining obesity and abdominal obesity during childhood, specifically in children with a history of low birth weight. The purpose of this study is to investigate the relation of breast-feeding with either of abdominal obesity and obesity among Iranian school children. A total of 1184 students (625 girls and 559 boys), aged 10 to 13 years old, were selected from 112 governmental elementary schools in Iran. Height, weight, waist circumference and blood pressure were measured using standard instruments and a pretested standardized questionnaire was performed for compiling information about family economics and educational level, first-degree family history of obesity, history of breast feeding, food pattern and birth weight, as well. 13.68% (n = 160) of students had a history of low birth weight, and 26.41% of them had abdominal obesity. Of all participants, 22.04% were overweight and 5.32% were obese which was more prevalent in girls than in boys (P = 0.03). First-degree family history of obesity (P = 0.001), excessive gestational weight gain (P = 0.001) and birth weight (P = 0.01) were significantly correlated with the prevalence of obesity and abdominal obesity during childhood. Moreover the prevalence of abdominal obesity in children with low birth weight was significantly correlated with breast feeding (P = 0.04); But this relation was not significantly about obesity in our participants (P = 0.9). Furthermore duration of breast feeding was significantly and inversely correlated with obesity and abdominal obesity in schoolchildren with low birth weight (P = 0.01). The results suggest that Breast feeding and its long-term consequences were important factors for preventing metabolic syndrome criteria in childhood and later years of life span. With regard to the increasing prevalence of obesity in children, more research is urgently needed to clarify whether breast feeding have negative consequences for the risk of chronic disease in children, especially in children with low birth weight.

DNA Damage Observed in Unaffected Individuals with Family History of T2DM

NASA Astrophysics Data System (ADS)

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.

Dietary habits of colorectal neoplasia patients in comparison to their first-degree relatives.

PubMed

Kajzrlikova, Ivana Mikoviny; Vitek, Petr; Chalupa, Josef; Dite, Petr

2014-05-07

To compare the dietary habits between colorectal neoplasia patients, their first-degree relatives, and unrelated controls. From July 2008 to April 2011, we collected epidemiological data relevant to colorectal cancer from patients with colorectal neoplasias, their first-degree relatives, and also from a control group consisting of people referred for colonoscopy with a negative family history of colorectal cancer and without evidence of neoplasia after colonoscopic examination. The first-degree relatives were divided into two groups following the colonoscopic examination: (1) patients with neoplasia or (2) patients without neoplasia. Dietary habits of all groups were compared. A χ (2) test was used to assess the association between two dichotomous categorical variables. The study groups consisted of 242 patients with colorectal neoplasias (143 men, 99 women; mean age: 64 ± 12 years) and 160 first-degree relatives (66 men, 94 women; mean age: 48 ± 11 years). Fifty-five of the first-degree relatives were found to have a neoplastic lesion upon colonoscopy, while the remaining 105 were without neoplasia. The control group contained 123 individuals with a negative family history for neoplastic lesions (66 men, 57 women; mean age: 54 ± 12 years). Two hypotheses were tested. In the first, the dietary habits of first-degree relatives with neoplasia were more similar to those of patients with neoplasia, while the dietary habits of first-degree relatives without neoplasia were similar to those of the control group. In the second, no sex-related differences in dietary habits were expected between the particular groups. Indeed, no significant differences were observed in the dietary habits between the groups of patients, controls and first-degree relatives with/without neoplastic lesions. Nevertheless, statistically significant sex-related differences were observed in all groups, wherein women had healthier dietary habits than men. In all groups examined, women had healthier dietary habits than men. Modification of screening guidelines according to sex may improve the efficiency of screening programs.

Dysthymic Disorder and Double Depression: Prediction of 10-Year Course Trajectories and Outcomes

PubMed Central

Klein, Daniel N.; Shankman, Stewart A.; Rose, Suzanne

2008-01-01

We sought to identify baseline predictors of 10-year course trajectories and outcomes in patients with dysthymic disorder and double depression. Eighty-seven outpatients with early-onset (< 21 years) dysthymic disorder, with or without superimposed major depression, were assessed five times at 30-month intervals for 10 years. Baseline evaluations included semi-structured diagnostic interviews for Axis I and II psychopathology and childhood adversity. Direct interview and family history data were collected on first-degree relatives. Follow-up assessments included the Longitudinal Follow-up Evaluation and Hamilton Depression Rating Scale. Using mixed effects growth curve models, univariate predictors of depression severity and functional impairment at 10-year outcome included older age, less education, concurrent anxiety disorder, greater familial loading for chronic depression, a history of a poorer maternal relationship in childhood, and a history of childhood sexual abuse. In addition, longer duration of dysthymic disorder also predicted greater impairment 10 years later. Predictors of a poorer trajectory of depressive symptoms over time included ethnicity and personality disorders; predictors of a poorer trajectory of social functioning included familial loading of chronic depression and quality of the childhood maternal relationship. Thus, demographic, clinical, family history, and early adversity variables all contribute to predicting the long term trajectory and outcome of DD. These variables should be routinely assessed in clinical evaluations and can provide clinicians with valuable prognostic information. PMID:17466334

Dysthymic disorder and double depression: prediction of 10-year course trajectories and outcomes.

PubMed

Klein, Daniel N; Shankman, Stewart A; Rose, Suzanne

2008-04-01

We sought to identify baseline predictors of 10-year course trajectories and outcomes in patients with dysthymic disorder and double depression. Eighty-seven outpatients with early-onset (<21 years) dysthymic disorder, with or without superimposed major depression, were assessed five times at 30-month intervals for 10 years. Baseline evaluations included semi-structured diagnostic interviews for Axis I and II psychopathology and childhood adversity. Direct interview and family history data were collected on first-degree relatives. Follow-up assessments included the Longitudinal Follow-up Evaluation and Hamilton Depression Rating Scale. Using mixed effects growth curve models, univariate predictors of depression severity and functional impairment at 10-year outcome included older age, less education, concurrent anxiety disorder, greater familial loading for chronic depression, a history of a poorer maternal relationship in childhood, and a history of childhood sexual abuse. In addition, longer duration of dysthymic disorder also predicted greater impairment 10 years later. Predictors of a poorer trajectory of depressive symptoms over time included ethnicity and personality disorders; predictors of a poorer trajectory of social functioning included familial loading of chronic depression and quality of the childhood maternal relationship. Thus, demographic, clinical, family history, and early adversity variables all contribute to predicting the long-term trajectory and outcome of DD. These variables should be routinely assessed in clinical evaluations and can provide clinicians with valuable prognostic information.

Hereditary pancreatic cancer: molecular bases and their application in diagnosis and clinical management: a guideline of the TTD group.

PubMed

Segura, P Pérez; Ponce, C Guillén; Ramón Y Cajal, T; Blanch, R Serrano; Aranda, E

2012-08-01

Pancreatic carcinoma (PC) represents the fourth leading cause of cancer death in Spain with a death rate of 2,400 males and 2,000 females per year. Poor outcome related to its silent nature and the lack of reliable secondary prevention measures translate into advanced-stage diagnosis, 75 % of deaths within the first year of diagnosis and 5-year survival rate of <5 %. Family history was first recognized as a risk factor for PC. Further population-based and case-control studies subsequently found that 7.8 % of patients with PC have a family history of the same tumor and individuals with a first-degree relative with PC have a 3.2-fold increased risk of developing PC. Overall, it is estimated that up to 10 % of PC have a familial component. However, known genetic syndromes account for <20 % of the observed familial aggregation of PC. We review the most important aspects in epidemiology, molecular biology and clinical management of familial PC.

Preferences regarding targeted education and risk assessment in people with a family history of major depressive disorder.

PubMed

Quinn, Veronica; Meiser, Bettina; Wilde, Alex; Cousins, Zoe; Barlow-Stewart, Kristine; Mitchell, Philip B; Schofield, Peter R

2014-10-01

Genetic testing for susceptibility to major depressive disorder (MDD) is not available for clinical use at present. Given this, family history remains the best predictor for development of MDD, and family-history-based risk assessment and information about familial aspects of MDD may be useful to clients at increased risk for MDD attending for genetic counseling. This study uses a mixed-methods design to assess the information needs and preferences of people at increased familial risk for MDD. Telephone interviews were conducted with 23 individuals, who had at least one first-degree relative with MDD and were recruited through advertisements placed on depression education websites. The most preferred way to access depression information was via the internet (87 % of participants), although this preference may have been due to the internet-based recruitment method. The second most preferred dissemination strategy (56 %) was face-to-face delivery through a health professional, including genetic counselors. Individuals reported a need for information about etiology and development of MDD, reproductive decision-making, early detection of symptoms and risk-reducing strategies. Nearly all participants expressed an interest in risk assessment. The present study found evidence of a high level of interest for information targeted to people at increased familial risk for MDD. Genetic counselors are likely to be called upon increasingly to provide supportive counseling to assist clients at increased familial risk in interpreting and contextualizing such information once it becomes available.

[A cross-sectional survey of familial aggregation of chronic obstructive pulmonary disease: in seven provinces/cities in China].

PubMed

Zhou, Yumin; Wang, Chen; Yao, Wanzhen; Chen, Ping; Kang, Jian; Huang, Shaoguang; Chen, Baoyuan; Wang, Changzheng; Ni, Diantao; Wang, Xiaoping; Wang, Dali; Liu, Shengming; Lyu, Jiachun; Zheng, Jinping; Zhong, Nanshan; Ran, Pixin

2014-05-01

To investigate the familial aggregation in chronic obstructive pulmonary disease (COPD). Based on a cross-sectional survey in seven provinces/cities in China (Beijing, Shanghai, Guangdong, Liaoning, Tianjin, Chongqing and Shaanxi) from 2002 to 2004, the familial aggregation of COPD was investigated with multi-stage cluster random sampling method.One urban and one rural area were selected as samples from each of seven provinces/cities. All residents equal or older than 40 years old received questionnaires and pulmonary function tests. Questionnaires included risk factors of COPD, respiratory symptoms, quality of life, diagnosis and prevention conditions of COPD. Bronchodilator tests, physical examination, X-ray and electrocardiograph (ECG) were conducted in those subjects.In pulmonary function tests, the ratio of the first second forced expiratory volume (FEV1) /forced vital capacity (FVC) less than 70% fulfill the diagnostic criteria of COPD.If any of siblings and parents had chronic bronchitis, emphysema, asthma or COPD, it should be considered as a positive family history of COPD-related disease.Otherwise, it was negative. FEV1 was lower in the subjects with a family history of COPD-related diseases than in those without [(2.24 ± 0.70) L vs (2.28 ± 0.73) L]. The prevalence of COPD in the population with history of COPD-related diseases was 12.1% (540/4 481), which was significantly higher than that without [7.2% (1 128/15 764), χ(2) = 110.599, P < 0.001]. After adjusted for potential confounder, the population with a family history of COPD-related diseases still had much higher incidence of COPD [OR = 2.18 (95%CI 1.94-2.46)]. Furthermore, the population having two or more first-degree relatives with COPD-related diseases, exhibited the highest likelihood of COPD [OR = 2.48 (95%CI 2.00-3.08)]. The population having only one first-degree relative with COPD-related diseases showed an increased risk of COPD with an OR = 2.10 (95%CI 1.84-2.40) compared with those without any one. Those whose father, mother or siblings had COPD-related diseases were similarly likely to have COPD, with an OR of 1.54 (95%CI 1.32-1.80), 1.83 (95%CI 1.56-2.15) and 1.81 (95%CI 1.48-2.23), respectively. There is a familial aggregation in COPD. The more relatives have COPD-related diseases in the family, the greater risk of COPD the subject will have.

Neuropsychology of the prodrome to psychosis in the NAPLS consortium: relationship to family history and conversion to psychosis.

PubMed

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

2010-06-01

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. To elucidate the neuropsychology of the CHR syndrome, to determine the association of neuropsychological function with conversion to psychosis and family history of psychosis, and to examine whether baseline neuropsychological functioning predicts subsequent psychosis. Longitudinal study with 2(1/2) years of follow-up. Eight centers participating in the North American Prodrome Longitudinal Study. Three hundred four prospectively identified CHR individuals meeting Structured Interview for Prodromal Syndromes criteria, 52 non-CHR persons with a family history of psychosis in first- or second-degree relatives (family high-risk group), and 193 normal controls with neither a family history of psychosis nor a CHR syndrome, all of whom underwent baseline neuropsychological evaluations. A neurocognitive composite score, 8 individual neuropsychological measures, an IQ estimate, and high-risk status. Global ("composite") neuropsychological functioning was comparably impaired in the CHR and family high-risk groups compared with 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 was worst in the subgroup with a family history of psychosis. Tests of processing speed and verbal learning and memory were most sensitive in discriminating CHR individuals 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. These findings document that CHR individuals have significant neuropsychological difficulties, particularly those who later develop psychosis. This dysfunction is generally of moderate severity but less than in first-episode schizophrenia, suggesting that further decline may occur after baseline CHR assessment.

Familial Aggregation and Heritability of Schizophrenia and Co-aggregation of Psychiatric Illnesses in Affected Families.

PubMed

Chou, I-Jun; Kuo, Chang-Fu; Huang, Yu-Shu; Grainge, Matthew J; Valdes, Ana M; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Huang, Lu-Shuang; Tseng, Wen-Yi; Zhang, Weiya; Doherty, Michael

2017-09-01

Strong familial aggregation of schizophrenia has been reported but there is uncertainty concerning the degree of genetic contribution to the phenotypic variance of the disease. This study aimed to examine the familial aggregation and heritability of schizophrenia, and the relative risks (RRs) of other psychiatric diseases, in relatives of people with schizophrenia using the Taiwan National Health Insurance Database. The study population included individuals with affected first-degree or second-degree relatives identified from all beneficiaries (n = 23 422 955) registered in 2013. Diagnoses of schizophrenia made by psychiatrists were ascertained between January 1, 1996 and December 31, 2013. Having an affected co-twin, first-degree relative, second-degree relative, or spouse was associated with an adjusted RR (95% CI) of 37.86 (30.55-46.92), 6.30 (6.09-6.53), 2.44 (1.91-3.12), and 1.88 (1.64-2.15), respectively. Compared with the general population, individuals with one affected first-degree relative had a RR (95% CI) of 6.00 (5.79-6.22) and those with 2 or more had a RR (95% CI) of 14.66 (13.00-16.53) for schizophrenia. The accountability for the phenotypic variance of schizophrenia was 47.3% for genetic factors, 15.5% for shared environmental factors, and 37.2% for non-shared environmental factors. The RR (95% CI) in individuals with a first-degree relative with schizophrenia was 3.49 (3.34-3.64) for mood disorders and 3.91 (3.35-4.57) for delusional disorders. A family history of schizophrenia is therefore associated with a higher risk of developing schizophrenia, mood disorders, and delusional disorders. Heritability and environmental factors each account for half of the phenotypic variance of schizophrenia. © The Author 2016. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.

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

PubMed

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.

Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses.

PubMed

Nakagomi, Hiroshi; Sakamoto, Ikuko; Hirotsu, Yosuke; Amemiya, Kenji; Mochizuki, Hitoshi; Inoue, Masayuki; Nakagomi, Satoko; Kubota, Takeo; Omata, Masao

2016-07-01

Genetic analysis for individuals who are at risk for hereditary breast and ovarian cancer syndrome (HBOC) has becoming widely accepted. The poor introduction of the genetic testing of BRCA in Japan compared with western countries could be due to insufficient recognition of its importance, prejudice against a heredity disease, especially in non-urban districts, and its high cost. There is few available data regarding the acceptance or willingness to have genetic testing among Japanese who are at risk and living outside Tokyo. Of 670 patients seen and detailed family history taken at our hospital, located non-urban, 30 (4 %) gave the family history of breast cancer in more than 2 members within the second degree relatives ("stronger" family history group), 92 (14 %) in 1 member ("weaker" group), and 548 (82 %) in none of members ("sporadic" group). Then, we selected 107 (24 from "stronger", 50 from "weaker", 33 from "sporadic" family history group) to see if they are willing to receive cost-free genetic testing of BRCA 1 and BRCA2. Ninety-two of 107 (86 %) patients agreed and 15 (14 %) refused. The rate of refusal for BRCA testing was higher in "stronger family history group" (6/24, 25 %) compared to "weaker" (7/50, 14 %) or "sporadic" (2/33, 6 %) (p = 0.04), respectively. These data indicate that the currently available preventive measures and/or counseling system may not be sufficient enough to convince the high risk population to receive the genetic testing or to overcome the prejudice in non-urban area in Japan, even if served free.

The relationship of family history and risk of type 2 diabetes differs by ancestry.

PubMed

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, P<0.0001. In fully adjusted Cox proportional hazard analyses, any family history 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.

Family history of zoster and risk of developing herpes zoster.

PubMed

Tseng, Hung Fu; Chi, Margaret; Hung, Peggy; Harpaz, Rafael; Schmid, D Scott; LaRussa, Philip; Sy, Lina S; Luo, Yi; Holmquist, Kimberly; Takhar, Harpreet; Jacobsen, Steven J

2018-01-01

Studies have investigated a possible association between family history of HZ and the occurrence of HZ. However, the results were inconclusive and susceptible to bias. We evaluated this association in an elderly population. The matched case-control study conducted at Kaiser Permanente Southern California in 2012-2015 included 656 incident HZ patients ≥60 whose skin lesion tested positive for varicella zoster virus by polymerase chain reaction. Half of the HZ patients were vaccinated with zoster vaccine as achieved by stratified sampling. The controls were randomly selected and 1:1 matched to the cases on sex, age (±1year), and zoster vaccination (±3 months of the case's vaccination date). Conditional logistic regression was used to estimate the odds ratio (OR) and 95% confidence interval (CI). Having any blood relative with a history of HZ was associated with a slightly increased risk of HZ (adjusted OR=1.37, 95% CI 1.05-1.79). The adjusted OR associated with having one and two categories of first-degree blood relatives with a history of HZ was 1.30 (95% CI: 0.97-1.73) and 2.53 (95% CI: 1.17-5.44), respectively. Our results suggested a weak association between the development of HZ and a positive family history of HZ among the elderly population. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Co-Care: A Registry for Individuals at Increased Risk for Colorectal Cancer.

PubMed

Sperling, Dylan; Jandorf, Lina; Sriphanlop, Pathu; Martinez, Clarissa; Brown, Karen L; Soper, Emily R; Hiraki, Susan; Itzkowitz, Steven H

2017-01-01

INTRODUCTION: Colorectal cancer (CRC) is one of the leading causes of cancer death for both men and women in the United States. Several factors can increase one’s risk of CRC, including a personal or family history of CRC, a diagnosis or family history of a hereditary colon cancer syndrome, or a diagnosis of chronic inflammatory bowel disease. The purpose of this project was to create a colorectal cancer registry (Co-Care) for individuals with a personal or family history of CRC, and those with disorders of the colon or rectum that are associated with an increased risk for developing CRC. Methods: To be eligible for the registry, patients either had a personal or family history of CRC, a diagnosis or family history of Lynch syndrome, familial adenomatous polyposis, or a diagnosis of Crohn’s colitis or ulcerative colitis with dysplasia. Participants were recruited after seeing their gastroenterologist or genetic counselor, or after undergoing a full or partial colectomy at Mount Sinai Hospital in New York City. Eligible patients who agreed to participate were interviewed by a member of the research staff and asked a wide range of questions pertaining to CRC risk. RESULTS: A total of 224 patients were enrolled in the registry. Participants are mostly white, born in the United States, and married, with a bachelor’s or graduate degree, reporting an annual household income of $100,000 or more. The largest portion have a family history of CRC (27.2%), and almost half of participants are of Jewish descent (46.2%) and have undergone full or partial colectomy (48.2%). More than half of participants have neither received genetic counseling (54.5%) nor undergone genetic testing (59.7%). Only 3.6% report that they currently smoke cigarettes, and 41.1% consume alcohol at least once per week. Lastly, 18.3%, 10.3%, and 27.7% of participants report that they currently take aspirin, folic acid/folate pills or tablets, or calcium pills/tablets, respectively. CONCLUSIONS: This registry can improve our understanding of CRC and related diseases, and be used to design future interventions related to disease risk, prognosis, and prevention of CRC.

Evolutionary dynamics and biogeography of Musaceae reveal a correlation between the diversification of the banana family and the geological and climatic history of Southeast Asia.

PubMed

Janssens, Steven B; Vandelook, Filip; De Langhe, Edmond; Verstraete, Brecht; Smets, Erik; Vandenhouwe, Ines; Swennen, Rony

2016-06-01

Tropical Southeast Asia, which harbors most of the Musaceae biodiversity, is one of the most species-rich regions in the world. Its high degree of endemism is shaped by the region's tectonic and climatic history, with large differences between northern Indo-Burma and the Malayan Archipelago. Here, we aim to find a link between the diversification and biogeography of Musaceae and geological history of the Southeast Asian subcontinent. The Musaceae family (including five Ensete, 45 Musa and one Musella species) was dated using a large phylogenetic framework encompassing 163 species from all Zingiberales families. Evolutionary patterns within Musaceae were inferred using ancestral area reconstruction and diversification rate analyses. All three Musaceae genera - Ensete, Musa and Musella - originated in northern Indo-Burma during the early Eocene. Musa species dispersed from 'northwest to southeast' into Southeast Asia with only few back-dispersals towards northern Indo-Burma. Musaceae colonization events of the Malayan Archipelago subcontinent are clearly linked to the geological and climatic history of the region. Musa species were only able to colonize the region east of Wallace's line after the availability of emergent land from the late Miocene onwards. © 2016 The Authors. New Phytologist © 2016 New Phytologist Trust.

Insulin resistance in offspring of hypertensive subjects.

PubMed

Mino, D; Wacher, N; Amato, D; Búrbano, G; Fonseca, M E; Revilla, C; Gordon, F; Lifshitz, A

1996-10-01

To assess whether apparently healthy subjects with a family history of systemic hypertension have a higher risk of presenting the insulin resistance syndrome. Three hundred and eighty-six subjects aged 20-65 years. A middle socio-economic class urban community from Mexico City. All subjects and, when necessary, their first-degree relatives, answered a questionnaire and underwent a physical examination with measurement of height, weight and blood pressure. Serum insulin, glucose, cholesterol and triglycerides were measured during fasting and 2 h after an oral load of 75 g glucose. A family history of systemic hypertension was present for 167 (43%) of the subjects, of whom 123 (31%) were obese. Subjects with a family history of hypertension had higher systolic blood pressures than did those without such a history (120 +/- 15 versus 115 +/- 10 mmHg). In the logistic regression model, the body mass index and age showed statistically significant effects on the fasting glucose:insulin ratio and on serum insulin levels after an oral load of glucose. When men and women were analysed separately, only in men were higher systolic and mean blood pressures and lower glucose:insulin ratios observed. In the logistic regression analysis the body mass index was a significant predictor of the glucose:insulin ratio and serum insulin levels after an oral load of glucose, especially in men. Apparently healthy male offspring of hypertensive parents have higher blood pressure levels and lower insulin sensitivities than do offspring of normotensive parents. Insulin resistance was related to obesity, but not to a family history of hypertension, as had previously been reported by other research groups.

Conversion from bipolar disorder not otherwise specified (BP-NOS) to bipolar I or II in youth with family history as a predictor of conversion.

PubMed

Martinez, Molly S; Fristad, Mary A

2013-06-01

Bipolar disorder-not otherwise specified (BD-NOS) is an imprecise, heterogeneous diagnosis that is unstable in youth. This study reports rates of conversion from BD-NOS to BD-I or II in children aged 8-12, and investigates the impact of family history of bipolar disorder and depression on conversion. As part of the Multi-Family Psychoeducational Psychotherapy (MF-PEP) study, 27 children (6-12 years of age) diagnosed with BD-NOS at baseline were reassessed every 6 months over an 18-month period. Family history of bipolar disorder and depression was assessed at baseline. One-third of the sample converted from BD-NOS to BD-I or II over 18-months. Having a first-degree relative with symptoms of bipolar disorder and having a loaded pedigree for diagnosis of depression each were associated with conversion from BD-NOS to BD-I or II (odds ratio range: 1.09-3.14; relative risk range: 1.06-2.34). This study had very low power (range: 10-45) given the small sample size, precluding statistical significance of non-parametric Fisher's Exact test findings. This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history. Additional research is warranted in a larger sample with a longer follow-up period. Copyright © 2012 Elsevier B.V. All rights reserved.

Degree of handedness and cerebral dominance.

PubMed

Isaacs, Keren L; Barr, William B; Nelson, Peter Kim; Devinsky, Orrin

2006-06-27

To examine the relationship between the degree of handedness and hemispheric language dominance in patients with epilepsy. The authors examined the relationship between degree of handedness and hemispheric language dominance in 174 epilepsy surgery candidates using the intracarotid amobarbital procedure and results from a modified version of the Edinburgh Handedness Inventory. The incidence of atypical language dominance increased linearly with the degree of left-handedness, from 9% in strong right-handers (laterality quotient [LQ] = +100) to 46% in ambidextrous individuals and 69% in strong left-handers (LQ = -100). The incidence of atypical language dominance depends not only on the direction but also on the degree of handedness. In addition, direction of language dominance varies with hemisphere of seizure focus and degree of handedness. A familial history of sinistrality may have an additional effect on the likelihood of atypical dominance.

Associations between University Students' Reported Reasons for Abstinence from Illicit Substances and Type of Drug

ERIC Educational Resources Information Center

Rosenberg, Harold; Bonar, Erin E.; Pavlick, Michelle; Jones, Lance D.; Hoffmann, Erica; Murray, Shanna; Faigin, Carol Ann; Cabral, Kyle; Baylen, Chelsea

2012-01-01

We recruited 211 undergraduates to rate the degree to which each of 34 listed reasons for not taking drugs had influenced their abstinence from MDMA/ecstasy, cocaine, marijuana, and hallucinogens. Participants rated reasons such as personal and family medical histories, religion, and physiological consequences of drug use as having little or no…

Early Childhood Risk and Protective Factors for Substance Use during Early Adolescence: Gender Differences.

ERIC Educational Resources Information Center

Friedman, Alfred S.; And Others

1995-01-01

Gathered substance use histories from African American male (n=318) and female (n=322) adolescents to determine whether gender differences affected early life risk factors for drug use or abuse. Family variables and subject behavior predicted degree of substance use and frequency of intoxication, but no risk factor applied to both genders. (SNR)

Talking About Type 2 Diabetes: Family Communication From the Perspective of At-Risk Relatives.

PubMed

Myers, Melanie F; Fernandes, Sara L; Arduser, Lora; Hopper, Jennifer L; Koehly, Laura M

2015-12-01

The purpose of this study was to describe type 2 diabetes (T2DM) communication and risk reduction recommendations from the perspective of family members at risk for T2DM based on family history. Semistructured qualitative interviews were conducted with 33 individuals with a first-degree relative with T2DM. Participants were recruited from the community and a previous pharmacogenetics study. Deductive and inductive codes were applied to the transcripts. Conversations with family members with and without T2DM focused on symptoms and disease management of the family member with T2DM. With at-risk relatives, conversations also focused on prevention. Lack of perceived relevance to family members without T2DM was a barrier to communication. Recommendations to facilitate communication included education of an at-risk family member to increase awareness of risk, followed by sharing of learned information with others. Efforts are needed to increase awareness and improve communication about T2DM risk factors, familial risk, and risk reduction behaviors within families with a family history of T2DM. Family members with and without T2DM should be encouraged to communicate with their relatives about T2DM and the risk to family members. Identification of family members who can facilitate communication, education, and modeling of healthy behaviors may increase awareness and motivate at-risk individuals to engage in risk-reducing behaviors. © 2015 The Author(s).

Using multiple methods to characterize the phenotype of individuals with a family history of major depressive disorder.

PubMed

Watters, Anna J; Gotlib, Ian H; Harris, Anthony W F; Boyce, Philip M; Williams, Leanne M

2013-09-05

Unaffected relatives (URs) of individuals with major depressive disorder (MDD) are biologically more vulnerable to depression. We compare healthy URs and controls at the level of phenotype (symptoms and functioning) and endophenotype (negative emotion bias), and further investigate the interrelation between these and the contribution of environmental early life stress. URs (n=101), identified using Family History Screen interview methods and matched controls completed written and interview questions assessing symptoms of depression and anxiety, negative cognitive style, life functioning and early life stress. Biases in emotion processing were measured using a facial expression of emotion identification paradigm. Compared to controls, URs reported higher levels of depression and anxiety, a stronger negative cognitive bias, and poorer functioning and lower satisfaction with life. URs were slower to correctly identify fear and sad facial expressions. A slower response time to identify sad faces was correlated with lower quality of life in the social domain. Early life stress (ELS) did not contribute significantly to any outcome. The methodology relies on accurate reporting of participants' own psychiatric history and that of their family members. The degree of vulnerability varies among URs. A family history of depression accounts for subtle differences in symptom levels and functioning without a necessary role of ELS. A negative emotion bias in processing emotion may be one vulnerability marker for MDD. Biological markers may affect functioning measures before symptoms at the level of experience. Copyright © 2013 Elsevier B.V. All rights reserved.

Porphyria cutanea tarda and haemochromatosis: a family study.

PubMed Central

Seymour, D G; Elder, G H; Fryer, A; Jacobs, A; Williams, G T

1990-01-01

A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea tarda and excess iron deposition is discussed as is the role of extending investigations to first and second degree relatives when either haemochromatosis or porphyria cutanea tarda is suspected. PMID:2379879

Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

PubMed Central

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

2014-01-01

Background The value of family history as a risk factor for kidney failure has not been determined in a nationwide setting. Aim This nationwide family study aimed to determine familial risks for kidney failure in Sweden. Methods The Swedish multi-generation register on 0–78-year-old subjects were linked to the Swedish patient register and the Cause of death register for 1987–2010. Individuals diagnosed with acute kidney failure (n = 10063), chronic kidney failure (n = 18668), or unspecified kidney failure (n = 3731) were included. Kidney failure patients with cystic kidney disease, congenital kidney and urinary tract malformations, urolithiasis, and rare inherited kidney syndromes, and hyperoxaluria were excluded. Standardized incidence ratios (SIRs) were calculated for individuals whose parents/siblings were diagnosed with kidney failure compared to those whose parents or siblings were not. Results The concordant (same disease) familial risks (sibling/parent history) were increased for chronic kidney failure SIR = 2.02 (95% confidence interval, CI 1.90–2.14) but not for acute kidney failure SIR = 1.08 (95% CI 0.94–1.22) and for unspecified kidney failure SIR = 1.25 (95% CI 0.94–1.63). However, the discordant (different disease) familial risk for acute kidney failure SIR = 1.19 (95% CI 1.06–1.32) and unspecified kidney failure SIR = 1.63 (95% CI 1.40–1.90) was significantly increased in individuals with a family history of chronic kidney failure. The familial risk for chronic kidney failure was similar for males SIR = 2.04 (95% CI 1.90–2.20) and females SIR = 1.97 (95% CI 1.78–2.17). Familial risks for chronic kidney failure were highest at age of 10–19 years SIR = 6.33 (95% CI 4.16–9.22). Conclusions The present study shows that family history is an important risk factor for chronic kidney failure but to a lower degree for acute kidney failure and unspecified kidney failure. PMID:25423475

Familial aggregation of arthritis-related diseases in seropositive and seronegative rheumatoid arthritis: a register-based case-control study in Sweden.

PubMed

Frisell, Thomas; Hellgren, Karin; Alfredsson, Lars; Raychaudhuri, Soumya; Klareskog, Lars; Askling, Johan

2016-01-01

Our objective was to estimate the risk of developing rheumatoid arthritis (RA) associated with a family history of non-RA arthritis-related diseases. This familial co-aggregation is of clinical interest since it is often encountered when assessing family history of RA specifically, but also informative on the genetic overlap between these diseases. Since anticitrullinated peptide antibodies/rheumatoid factor (RF)-positive and RF-negative RA have both specific and shared genetic factors, the familial co-aggregation was assessed separately for seropositive and seronegative disease. Nested case-control study in prospectively recorded Swedish total population data. The Multi-Generation Register identified first-degree relatives. RA and arthritis-related diseases were ascertained through the nationwide patient register. RA serology was based on International Classification of Diseases tenth revision coded diagnoses, mainly reflecting RF. Familial risks were calculated using conditional logistic regression. Results were replicated using the Swedish rheumatology register. Familial co-aggregation was found between RA and every studied arthritis-related disease, but the magnitude varied widely, from juvenile idiopathic arthritis (JIA) (seropositive RA OR=3.98 (3.01 to 5.26); seronegative RA OR=5.70 (3.47 to 9.36)) to osteoarthritis (seropositive RA OR=1.03 (1.00 to 1.06); seronegative RA OR=1.05 (1.00 to 1.09)). The familial co-aggregation pattern of non-RA arthritis-related diseases was overall similar for seropositive and seronegative RA. Among those with family history of RA, relatives' other arthritis-related diseases conferred little or no additional risk. Although family history of several arthritis-related diseases may be useful to predict RA (eg, lupus and JIA), others (eg, osteoarthritis and arthralgia) are less useful. Seropositive and seronegative RA had rather similar familial co-aggregation patterns with arthritis-related diseases, suggesting that the two RA subsets are similar in the genetic factors that overlap with these diseases. 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/

Gating Deficits are More Heritable and Correlate with Increased Clinical Severity in Schizophrenia Patients with a Positive versus Negative Family History

PubMed Central

Greenwood, Tiffany A.; Light, Gregory A.; Swerdlow, Neal R.; Calkins, Monica E.; Green, Michael F.; Gur, Raquel E.; Gur, Ruben C.; Lazzeroni, Laura C.; Nuechterlein, Keith H.; Olincy, Ann; Radant, Allen D.; Seidman, Larry J.; Siever, Larry J.; Silverman, Jeremy M.; Stone, William S.; Sugar, Catherine A.; Tsuang, Debby W.; Tsuang, Ming T.; Turetsky, Bruce I.; Freedman, Robert; Braff, David L.

2016-01-01

Objective The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) evaluated 12 primary and other supplementary neurocognitive and neurophysiological endophenotypes in schizophrenia probands and their families. Previous analyses of prepulse inhibition (PPI) and P50 gating measures in this sample revealed heritability estimates that were lower than expected based on earlier family studies. Here we investigated whether gating measures were more heritable in multiply affected families with a positive family history vs. families with only a single affected proband (singleton). Method A total of 296 nuclear families consisting of a schizophrenia proband, at least one unaffected sibling, and both parents underwent a comprehensive endophenotype and clinical characterization. The Family Interview for Genetic Studies was administered to all participants and used to obtain convergent psychiatric symptom information for additional first-degree relatives. Among the families, 97 were multiply affected, and 96 were singletons. Results Both PPI and P50 gating displayed significantly increased heritability in the 97 multiply affected families (47% and 36%, respectively), compared with estimates derived from the entire sample of 296 families (29% and 20%, respectively). However, no evidence for heritability was observed for either measure in the 96 singleton families. Schizophrenia probands derived from the multiply affected families also displayed a significantly increased severity of clinical symptoms compared with those derived from singleton families. Conclusions PPI and P50 gating measures demonstrate substantially increased heritability in schizophrenia families with a higher genetic vulnerability for illness, which provides further support for the commonality of genes underlying both schizophrenia and gating measures. PMID:26441157

Greater rupture risk for familial as compared to sporadic unruptured intracranial aneurysms.

PubMed

Broderick, Joseph P; Brown, Robert D; Sauerbeck, Laura; Hornung, Richard; Huston, John; Woo, Daniel; Anderson, Craig; Rouleau, Guy; Kleindorfer, Dawn; Flaherty, Matthew L; Meissner, Irene; Foroud, Tatiana; Moomaw, E Charles J; Connolly, E Sander

2009-06-01

The risk of intracranial aneurysm (IA) rupture in asymptomatic members of families who have multiple affected individuals is not known. First-degree unaffected relatives of those with a familial history of IA who had a history of smoking or hypertension but no known IA were offered cerebral MR angiography (MRA) and followed yearly as part of a National Institute of Neurological Diseases and Stroke-funded study of familial IA (Familial Intracranial Aneurysm [FIA] Study). A total of 2874 subjects from 542 FIA Study families were enrolled. After study enrollment, MRAs were performed in 548 FIA Study family members with no known history of IA. Of these 548 subjects, 113 subjects (20.6%) had 148 IAs by MRA of whom 5 subjects had IA >or=7 mm. Two subjects with an unruptured IA by MRA/CT angiography (3-mm and 4-mm anterior communicating artery) subsequently had rupture of their IA. This represents an annual rate of 1.2 ruptures per 100 subjects (1.2% per year; 95% CI, 0.14% to 4.3% per year). None of the 435 subjects with a negative MRA have had a ruptured IA. Survival curves between the MRA-positive and -negative cohorts were significantly different (P=0.004). This rupture rate of unruptured IA in the FIA Study cohort of 1.2% per year is approximately 17 times higher than the rupture rate for subjects with an unruptured IA in the International Study of Unruptured Aneurysm Study with a matched distribution of IA size and location 0.069% per year. Small unruptured IAs in patients from FIA Study families may have a higher risk of rupture than sporadic unruptured IAs of similar size, which should be considered in the management of these patients.

Family Health History and Diabetes

MedlinePlus

... Risk Test Family Health History Quiz Family Health History Quiz Family health history is an important risk ... Should Ask Your Family About Diabetes & Family Health History Knowing your family health history is important. Here ...

Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative.

PubMed

Wood, Marie E; Kadlubek, Pamela; Pham, Trang H; Wollins, Dana S; Lu, Karen H; Weitzel, Jeffrey N; Neuss, Michael N; Hughes, Kevin S

2014-03-10

Family history of cancer (CFH) is important for identifying individuals to receive genetic counseling/testing (GC/GT). Prior studies have demonstrated low rates of family history documentation and referral for GC/GT. CFH quality and GC/GT practices for patients with breast (BC) or colon cancer (CRC) were assessed in 271 practices participating in the American Society of Clinical Oncology Quality Oncology Practice Initiative in fall 2011. A total of 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients; 77.4% of all medical records reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical records documented presence or absence of CFH in second-degree relatives, with significantly higher documentation for patients with BC compared with CRC. Age at diagnosis was documented for all relatives with cancer in 30.7% of medical records (BC, 45.2%; CRC, 35.4%; P ≤ .001). Referall for GC/GT occurred in 22.1% of all patients with BC or CRC. Of patients with increased risk for hereditary cancer, 52.2% of patients with BC and 26.4% of those with CRC were referred for GC/GT. When genetic testing was performed, consent was documented 77.7% of the time, and discussion of results was documented 78.8% of the time. We identified low rates of complete CFH documentation and low rates of referral for those with BC or CRC meeting guidelines for referral among US oncologists. Documentation and referral were greater for patients with BC compared with CRC. Education and support regarding the importance of accurate CFH and the benefits of proactive high-risk patient management are clearly needed.

Family history and lung cancer risk: international multicentre case-control study in Eastern and Central Europe and meta-analyses.

PubMed

Lissowska, Jolanta; Foretova, Lenka; Dabek, Joanna; Zaridze, David; Szeszenia-Dabrowska, Neonila; Rudnai, Peter; Fabianova, Eleonora; Cassidy, Adrian; Mates, Dana; Bencko, Vladimir; Janout, Vladimir; Hung, Rayjean J; Brennan, Paul; Boffetta, Paolo

2010-07-01

Lung cancer is the most common neoplastic disease in Eastern and Central Europe. The role of hereditary factors in lung carcinogenesis is not fully understood. Family history (FH) of lung cancer and other tobacco-related cancers might be a strong predictor of the lung cancer risk. We investigated family history of cancer among first-degree relatives of 2,861 patients with lung cancer and 3,118 controls from the Czech Republic, Hungary, Poland, Romania, Russia, Slovakia, and United Kingdom within the IARC Multicenter Case-Control Study. Odds ratios (ORs) and 95% CI were calculated using logistic regression, adjusting for age, gender, study center, education, tobacco smoking, and number of first-degree relatives. In addition, we conducted a meta-analysis of 41 studies on FH of cancer and lung cancer risk. Positive FH of lung cancer increased risk of lung cancer with OR of 1.63 (95%CI: 1.31-2.01), and having two or more affected relatives with lung cancer further increased the risk of lung cancer with OR 3.60 (95%CI: 1.56-8.31). Among subjects aged less than 50, the OR for FH of lung cancer was 2.08 (95%CI: 1.18-3.63). The associations were generally stronger for squamous cell carcinoma and large cell carcinoma subtypes. Heterogeneity in results was not found with respect to smoking status and gender. A significant association was not observed for FH of other smoking-related tumors. The results of meta-analysis were consistent with that of our study with regard to young onset, non-smokers and histology. FH of lung cancer is a predictor of an increased risk of lung cancer, especially in subjects aged less than 50.

Accused murderers: five MMPI personality types.

PubMed

Anderson, W P; Holcomb, W R

1983-09-01

A cluster analysis of the MMPIs of 110 men accused of capital and first-degree murder identified five profile types. When these types were compared on 24 sociological and behavioral variables, they differed on 16. Significant variables include family history, drug and alcohol use, events preceding the crime, and relationship between the accused and victim. Comparisons were made with several other systems of classifying murderers.

Personal and family history of immune-related conditions increase the risk of plasma cell disorders: a population-based study

PubMed Central

Lindqvist, Ebba K.; Goldin, Lynn R.; Landgren, Ola; Blimark, Cecilie; Mellqvist, Ulf-Henrik; Turesson, Ingemar; Wahlin, Anders; Björkholm, Magnus

2011-01-01

The associations between immune-related conditions and multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) have previously been investigated with inconsistent results. In a large population-based study, we identified 19 112 patients with MM, 5403 patients with MGUS, 96 617 matched control subjects, and 262 931 first-degree relatives. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) for the association of MM and MGUS with immune-related conditions by use of logistic regression. A personal history of all infections combined was associated with a significantly increased risk of MM (OR = 1.2; 95% CI, 1.1-1.3), and a personal history of all conditions in the categories infections (OR = 1.6; 95% CI, 1.5-1.7), inflammatory conditions (OR = 1.4; 95% CI, 1.2-1.5), and autoimmune diseases (OR = 2.1; 95% CI, 1.9-2.4) was associated with a significantly increased risk of MGUS. Several specific immune-related conditions elevated the risk of MM and/or MGUS. A family history of autoimmune disease was associated with a significantly increased risk of MGUS (OR = 1.1; 95% CI, 1.00-1.2), but not MM. Our findings suggest that immune-related conditions and/or their treatment are of importance in the etiology of MGUS and possibly MM. The association of both personal and family history of autoimmune disease with MGUS indicates the potential for shared susceptibility for these conditions. PMID:21998210

Autoimmunity and susceptibility to Hodgkin lymphoma: a population-based case-control study in Scandinavia.

PubMed

Landgren, Ola; Engels, Eric A; Pfeiffer, Ruth M; Gridley, Gloria; Mellemkjaer, Lene; Olsen, Jørgen H; Kerstann, Kimberly F; Wheeler, William; Hemminki, Kari; Linet, Martha S; Goldin, Lynn R

2006-09-20

Personal history of autoimmune diseases is consistently associated with increased risk of non-Hodgkin lymphoma. In contrast, there are limited data on risk of Hodgkin lymphoma following autoimmune diseases and almost no data addressing whether there is a familial association between the conditions. Using population-based linked registry data from Sweden and Denmark, 32 separate autoimmune and related conditions were identified from hospital diagnoses in 7476 case subjects with Hodgkin lymphoma, 18,573 matched control subjects, and more than 86,000 first-degree relatives of case and control subjects. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) as measures of relative risks for each condition using logistic regression and also applied multivariable hierarchical regression models. All P values are two-sided. We found statistically significantly increased risks of Hodgkin lymphoma associated with personal histories of several autoimmune conditions, including rheumatoid arthritis (OR = 2.7, 95% CI = 1.9 to 4.0), systemic lupus erythematosus (OR = 5.8, 95% CI = 2.2 to 15.1), sarcoidosis (OR = 14.1, 95% CI = 5.4 to 36.8), and immune thrombocytopenic purpura (OR = infinity, P = .002). A statistically significant increase in risk of Hodgkin lymphoma was associated with family histories of sarcoidosis (OR = 1.8, 95% CI = 1.01 to 3.1) and ulcerative colitis (OR = 1.6, 95% CI = 1.02 to 2.6). Personal or family history of certain autoimmune conditions was strongly associated with increased risk of Hodgkin lymphoma. The association between both personal and family histories of sarcoidosis and a statistically significantly increased risk of Hodgkin lymphoma suggests shared susceptibility for these conditions.

The consumption of cigarettes, coffee and sweets in detoxified alcoholics and its association with relapse and a family history of alcoholism.

PubMed

Junghanns, Klaus; Backhaus, Jutta; Tietz, Ulrike; Lange, Wolfgang; Rink, Lothar; Wetterling, Tilman; Driessen, Martin

2005-08-01

Thirty male alcohol dependent inpatients without concurrent depressive disorder, 13 of them with a positive family history of alcohol dependence in a first degree relative (PFH), were questioned about their desire and consumption habits with respect to cigarettes, coffee, and sweets while on a three-week inpatient treatment after detoxification from alcohol. Six weeks after discharge from hospital, the patients were reassessed for relapse. Eleven patients (36.6%) had relapsed at follow-up. Relapsers were younger than abstainers. The days until relapse correlated negatively with intensity of desire to drink alcohol, desire to smoke cigarettes, and with a higher consumption of cigarettes. PFH patients did not relapse earlier but they had a stronger desire to drink coffee and eat sweets and had a higher coffee consumption.

Cost Effectiveness of Age-Specific Screening Intervals for People With Family Histories of Colorectal Cancer.

PubMed

Naber, Steffie K; Kuntz, Karen M; Henrikson, Nora B; Williams, Marc S; Calonge, Ned; Goddard, Katrina A B; Zallen, Doris T; Ganiats, Theodore G; Webber, Elizabeth M; Janssens, A Cecile J W; van Ballegooijen, Marjolein; Zauber, Ann G; Lansdorp-Vogelaar, Iris

2018-01-01

Relative risk of colorectal cancer (CRC) decreases with age among individuals with a family history of CRC. However, no screening recommendations specify less frequent screening with increasing age. We aimed to determine whether such a refinement would be cost effective. We determined the relative risk for CRC for individuals based on age and number of affected first-degree relatives (FDRs) using data from publications. For each number of affected FDRs, we used the Microsimulation Screening Analysis model to estimate costs and effects of colonoscopy screening strategies with different age ranges and intervals. Screening was then optimized sequentially, starting with the youngest age group, and allowing the interval of screening to change at certain ages. Strategies with an incremental cost effectiveness ratio below $100,000 per quality-adjusted life year were considered cost effective. For people with 1 affected FDR (92% of those with a family history), screening every 3 years beginning at an age of 40 years is most cost effective. If no adenomas are found, the screening interval can gradually be extended to 5 and 7 years, at ages 45 and 55 years, respectively. From a cost-effectiveness perspective, individuals with more affected FDRs should start screening earlier and at shorter intervals. However, frequency can be reduced if no abnormalities are found. Using a microsimulation model, we found that for individuals with a family history of CRC, it is cost effective to gradually increase the screening interval if several subsequent screening colonoscopies have negative results and no new cases of CRC are found in family members. Copyright © 2018 AGA Institute. Published by Elsevier Inc. All rights reserved.

Risk factors for benign breast disease: a 30-year cohort study.

PubMed Central

Hislop, T G; Elwood, J M

1981-01-01

Data on the menstrual history, family history and degree of obesity of 1374 Vancouver nursing students were collected in 1945 and from 1947 to 1956. In 1979, 768 of these women were located; 726 (94%) responded and participated in a follow-up study, providing information on their subsequent medical history and on breast-related problems. No major differences were found between the early histories of these participants and those who were not located or did not respond. Among the respondents 215 gave a history of symptoms compatible with benign breast disease; in 107 this diagnosis was confirmed by biopsy. By age 50 the cumulative risk for benign breast disease was 17% for biopsied and 31% for symptomatic disease. Biopsied benign breast disease was associated with premenstrual breast discomfort, irregular menses, a history of abortions, a family history of both benign and malignant breast disease, lack of use of oral contraceptives, a low index of obesity and small breasts, obesity and breast size being independent. Factors associated with symptomatic benign breast disease were usually associated with a greater likelihood of biopsy for symptomatic disease; hence, the relative risks for biopsied disease were generally greater than those for symptomatic disease. Although the risk factors for benign breast disease differ from those for breast cancer, the findings are consistent with the hypothesis of excessive circulating estrogen. PMID:7459788

Family history and the risk of colorectal cancer: The importance of patients' history of colonoscopy.

PubMed

Weigl, Korbinian; Jansen, Lina; Chang-Claude, Jenny; Knebel, Phillip; Hoffmeister, Michael; Brenner, Hermann

2016-11-15

Registry-based studies on the risk of colorectal cancer (CRC) for persons with a family history (FH) typically did not control for important covariates, such as history of colonoscopy. We aimed to quantify the association between FH and CRC risk, carefully accounting for potential confounders. We conducted a population-based case-control study in Germany. A total of 4,313 patients with a first diagnosis of CRC (cases) and 3,153 controls recruited from 2003 to 2014 were included. We used multiple logistic regression analyses to assess the association between FH and risk of CRC with odds ratios (OR) and the resulting 95% confidence intervals (95% CI). A total of 582 cases (13.5%) and 321 (10.2%) controls reported a history of CRC in a first-degree relative, which was associated with a 41% increase in risk of CRC (OR: 1.41, 95% CI 1.22-1.63) after adjustment for sex and age. The OR substantially increased to 1.73 (95% CI, 1.48-2.03) after comprehensive adjustment including previous colonoscopies. Irrespective of their FH status, persons with history of colonoscopies had a lower CRC risk compared with persons without previous colonoscopies and without family history (OR: 0.25, 95% CI, 0.22-0.28 for persons without FH and OR 0.45, 95% CI, 0.36-0.56 for persons with FH). In an era of widespread use of colonoscopy, adjusting for previous colonoscopy is therefore crucial for deriving valid estimates of FH-related CRC risk. Colonoscopy reduces the risk of CRC among those with FH far below levels of people with no FH and no colonoscopy. © 2016 UICC.

Risk factors related to female breast cancer in regions of Northeast China: a 1:3 matched case-control population-based study.

PubMed

Yu, Zhi-gang; Jia, Cun-xian; Geng, Cui-zhi; Tang, Jin-hai; Zhang, Jin; Liu, Li-yuan

2012-03-01

There has been an increase in the incidence of breast cancer in China, but no definite risk and protective factors for breast cancer have been identified in Chinese females. This study was designed to identify the risk factors for female breast cancer in North and East China. A 1:3 matched, case-control study was conducted. All of the subjects in the case and control groups were selected from a previous epidemiological survey of 122 058 females aged 25 to 70 years. Single and multiple Logistic regression analyses were used to study potential factors in the development of breast cancer. Significant differences at the level of α=0.20 between case and control groups were observed for the following factors: economic status, social status, family annual income, bean product consumption, body mass index (BMI), family history of breast cancer in the first or second degree, number of miscarriages, menstrual pattern, benign breast disease history, nipple leakage, inverted nipple, history of diabetes mellitus, history of hypertension, history of ovarian cyst, physical exercise, current and global quality of life satisfaction, healthy behavior and prevention, and scores of breast cancer-related knowledge. After Cox-regression model analysis (α=0.10), six factors were found to be significantly related to breast cancer, of which the ORs and 95%CIs were: BMI, 1.696 (1.169-2.460, P=0.005); benign breast disease history, 2.672 (0.848-8.416, P=0.093); family history of breast cancer, 7.080 (1.758-28.551, P=0.006); number of miscarriages, 1.738 (1.014-2.978, P=0.044); global quality of life satisfaction, 3.044 (1.804-5.136, P=0.000); healthy behavior and prevention, 3.294 (1.692-6.412, P=0.000). A comprehensive range of factors related to breast cancer was identified. Women should be educated about a healthy lifestyle, especially those with a family history of breast cancer or a personal history of benign breast disease.

[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis].

PubMed

Garcia Nieto, Victor; Huertes Díaz, Beatriz; Escribano Subias, Joaquin; Alarcón Alacio, Maria Teresa; Gonzalez Rodríguez, Juan David; Cabrera Sevilla, José Eugenio; Peralta Aros, Carolina; Luis Yanes, Maria Isabel

2016-11-01

In few previous works, it has been reported that hypercalciuria is associated with some types of CAKUT, namely ureteropelvic junction obstruction, vesicoureteral reflux or simple renal cysts. In addition, one higher prevalence of hypercalciuria and/or urolithiasis has been described in their family members compared to the general population. This study was carried out to find out whether children with unilateral renal agenesis (URA) have these features previously described in other CAKUT types. In a descriptive and multicenter study we studied the prevalence of hypercalciuria, hypocitraturia and urolithiasis in 67 children (43 males and 24 females) with URA and their families. The two metabolic anomalies that promote stone formation were observed in 26 children (38.8%), distributed as follows: hypercalciuria in 16, hypocitraturia in 9, and both hypercalciuria and hypocitraturia in 1. Eight children (11.9%) suffered renal colic during follow-up. Familial history of urolithiasis was found in 42/67 children (62.7%): in 12 of the first-degree relatives, in 15 of the second degree relatives and in 15 patients both in the first-degree as in their second degree relatives. In contrast, in historic control group, only in 28.1% of families at least one member had urolithiasis. Our results show that the prevalence of hypercalciuria and/or hypocitraturia is greater in pediatric patients with URA than in the general population. Likewise, the prevalence of urolithiasis in the families of these children is also higher than that in the general population. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Greater Rupture Risk for Familial as Compared to Sporadic Unruptured Intracranial Aneurysms

PubMed Central

Broderick, Joseph P.; Brown, Robert D.; Sauerbeck, Laura; Hornung, Richard; Huston, John; Woo, Daniel; Anderson, Craig; Rouleau, Guy; Kleindorfer, Dawn; Flaherty, Matthew L.; Meissner, Irene; Foroud, Tatiana; Moomaw, E. Charles J.; Connolly, E. Sander

2009-01-01

Background The risk of intracranial aneurysm (IA) rupture in asymptomatic members of families who have multiple affected individuals is not known. Methods First-degree unaffected relatives of those with a familial history of IA who had a history of smoking or hypertension but no known IA were offered cerebral magnetic resonance angiography (MRA) and followed yearly as part of an NINDS-funded study of familial IA (FIA Study). Results 2874 subjects from 542 FIA families were enrolled. After study enrollment, MRAs were performed in 548 FIA family members with no known history of IA. Of these 548 subjects, 113 subjects (20.6%) had 148 IAs by MRA of whom 5 subjects had IA >= 7 mm. Two subjects with an unruptured IA by MRA/CTA (3 mm and 4mm ACOM) subsequently had rupture of their IA. This represents an annual rate of 1.2 ruptures per 100 subjects (1.2% per year, 95% CI of 0.14% to 4.3% per year). None of the 435 subjects with a negative MRA have had a ruptured IA. Survival curves between the MRA positive and negative cohorts were significantly different (p = 0.004). This rupture rate of unruptured IA in the FIA cohort of 1.2% per year is approximately 17 times higher than the rupture rate for subjects with an unruptured IA in the International Study of Unruptured Aneurysm Study with a matched distribution of IA size and location - 0.069% per year. Conclusions Small unruptured IAs in patients from FIA families may have a higher risk of rupture than sporadic unruptured IAs of similar size, which should be considered in the management of these patients. PMID:19228834

Lung, Breast, and Prostate Cancer Patients with Unknown Ethnicity in US Department of Defense Cancer Registry Data: Comparisons to Patients with Known Ethnicity.

PubMed

Lin, Jie; Kamamia, Christine; Shao, Stephanie; Brown, Derek; Rockswold, Paul D; Butts, Elizabeth; Shriver, Craig D; Zhu, Kangmin

2017-01-01

INTRODUCTION: Colorectal cancer (CRC) is one of the leading causes of cancer death for both men and women in the United States. Several factors can increase one’s risk of CRC, including a personal or family history of CRC, a diagnosis or family history of a hereditary colon cancer syndrome, or a diagnosis of chronic inflammatory bowel disease. The purpose of this project was to create a colorectal cancer registry (Co-Care) for individuals with a personal or family history of CRC, and those with disorders of the colon or rectum that are associated with an increased risk for developing CRC. METHODS: To be eligible for the registry, patients either had a personal or family history of CRC, a diagnosis or family history of Lynch syndrome, familial adenomatous polyposis, or a diagnosis of Crohn’s colitis or ulcerative colitis with dysplasia. Participants were recruited after seeing their gastroenterologist or genetic counselor, or after undergoing a full or partial colectomy at Mount Sinai Hospital in New York City. Eligible patients who agreed to participate were interviewed by a member of the research staff and asked a wide range of questions pertaining to CRC risk. RESULTS: A total of 224 patients were enrolled in the registry. Participants are mostly white, born in the United States, and married, with a bachelor’s or graduate degree, reporting an annual household income of $100,000 or more. The largest portion have a family history of CRC (27.2%), and almost half of participants are of Jewish descent (46.2%) and have undergone full or partial colectomy (48.2%). More than half of participants have neither received genetic counseling (54.5%) nor undergone genetic testing (59.7%). Only 3.6% report that they currently smoke cigarettes, and 41.1% consume alcohol at least once per week. Lastly, 18.3%, 10.3%, and 27.7% of participants report that they currently take aspirin, folic acid/folate pills or tablets, or calcium pills/tablets, respectively. CONCLUSIONS: This registry can improve our understanding of CRC and related diseases, and be used to design future interventions related to disease risk, prognosis, and prevention of CRC.

Cluster randomized controlled trial of a psycho-educational intervention for people with a family history of depression for use in general practice

PubMed Central

2013-01-01

Background The strongest risk factor for depression is having a family history of the condition. Many individuals with a family history of depression are concerned about their personal risk for depression and report unmet educational and psychological support needs. No supportive and/or educational interventions are currently available that target this group of individuals. In this study we will develop and evaluate the first online psycho-educational intervention targeted to individuals with a family history of depression. Genetic risk information and evidence-rated information on preventive strategies for depression will be provided to such individuals in a general practice setting. The intervention will also incorporate a risk assessment tool. The content and delivery of the intervention will be pilot-tested. Methods/design The proposed intervention will be evaluated in the general practitioner (GPs) setting, using a cluster randomized controlled trial. GP practices will be randomized to provide either access to the online, targeted psycho-educational intervention or brief generic information about depression (control) to eligible patients. Eligibility criteria include having at least one first-degree relative with either major depressive disorder (MDD) or bipolar disorder (BD). The primary outcome measure is 'intention to adopt, or actual adoption of, risk-reducing strategies’. Secondary outcome measures include: depression symptoms, perceived stigma of depression, knowledge of risk factors for development of depression and risk-reducing strategies, and perceived risk of developing depression or having a recurrence of family history. Over the course of the study, participants will complete online questionnaires at three time points: at baseline, and two weeks and six months after receiving the intervention or control condition. Discussion This novel psycho-educational intervention will provide individuals with a family history of depression with information on evidence-based strategies for the prevention of depression, thus, we hypothesize, enabling them to make appropriate lifestyle choices and implement behaviors designed to reduce their risk for depression. The online psycho-educational intervention will also provide a model for similar interventions aimed at individuals at increased familial risk for other psychiatric disorders. Trial registration The study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12613000402741). PMID:24289740

Large-Scale Comparative Analysis Reveals the Mechanisms Driving Plastomic Compaction, Reduction, and Inversions in Conifers II (Cupressophytes).

PubMed

Wu, Chung-Shien; Chaw, Shu-Miaw

2016-12-01

Conifers II (cupressophytes), comprising about 400 tree species in five families, are the most diverse group of living gymnosperms. Their plastid genomes (plastomes) are highly variable in size and organization, but such variation has never been systematically studied. In this study, we assessed the potential mechanisms underlying the evolution of cupressophyte plastomes. We analyzed the plastomes of 24 representative genera in all of the five cupressophyte families, focusing on their variation in size, noncoding DNA content, and nucleotide substitution rates. Using a tree-based method, we further inferred the ancestral plastomic organizations of internal nodes and evaluated the inversions across the evolutionary history of cupressophytes. Our data showed that variation in plastome size is statistically associated with the dynamics of noncoding DNA content, which results in different degrees of plastomic compactness among the cupressophyte families. The degrees of plastomic inversions also vary among the families, with the number of inversions per genus ranging from 0 in Araucariaceae to 1.27 in Cupressaceae. In addition, we demonstrated that synonymous substitution rates are significantly correlated with plastome size as well as degree of inversions. These data suggest that in cupressophytes, mutation rates play a critical role in driving the evolution of plastomic size while plastomic inversions evolve in a neutral manner. © The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Parental History of Diabetes, Positive Affect, and Diabetes Risk in Adults: Findings from MIDUS.

PubMed

Tsenkova, Vera K; Karlamangla, Arun S; Ryff, Carol D

2016-12-01

Family history of diabetes is one of the major risk factors for diabetes, but significant variability in this association remains unexplained, suggesting the presence of important effect modifiers. To our knowledge, no previous work has examined whether psychological factors moderate the degree to which family history of diabetes increases diabetes risk. We investigated the relationships among parental history of diabetes, affective states (positive affect, negative affect, and depressed affect), and diabetes in 978 adults from the MIDUS 2 national sample. As expected, parental history of diabetes was associated with an almost threefold increase in diabetes risk. We found a significant interaction between positive affect and parental history of diabetes on diabetes (p = .009): higher positive affect was associated with a statistically significant lower relative risk for diabetes in participants who reported having a parental history of diabetes (RR = .66 per unit increase in positive affect; 95 % CI = .47; .93), but it did not influence diabetes risk for participants who reported no parental history of diabetes (p = .34). This pattern persisted after adjusting for an extensive set of health and sociodemographic covariates and was independent of negative and depressed affect. These results suggest that psychological well-being may protect individuals at increased risk from developing diabetes. Understanding such interactions between non-modifiable risk factors and modifiable psychological resources is important for delineating biopsychosocial pathways to diabetes and informing theory-based, patient-centered interventions to prevent the development of diabetes.

Lipid Lowering Agents Aeromedical Concerns

DTIC Science & Technology

2001-06-01

simvastatin, fluvastatin, atorvastatin ) b. family history of premature CHD (first degree d. Others (nicotinic acid, probucol) male relative ឧ, first... atorvastatin , fluvastatin, lovastatin, and simvastatin) serum liver enzyme levels associated with have been developed for clinical use and are now...Engl J Med 1993; There are unpublished data about atorvastatin and 328:1213-9. 18 10. LRCP. JAMA 1984;251:351-64. 15. Vgontzas, et al. Clin Pharm Ther

Baseline Study of Women in South Africa with Postgraduate Physics Degrees (abstract)

NASA Astrophysics Data System (ADS)

Grayson, Diane J.

2009-04-01

A baseline study was conducted of women in South Africa who obtained BSc (Honours), MSc, or PhD degrees in physics and astronomy between 1995 and 2005. The first step involved identifying and contacting the women, using snowball sampling. These women were then asked to complete a questionnaire by e-mail. Responses to the questionnaire yielded information about the types of schools they attended, attitudes of their teachers, family history of studying science, influences on choosing to study physics, role models and mentors, employment history and aspects of a job that are important to them, experiences of gender bias, and suggestions for improving the situation for women in physics. This information is very valuable in designing programs, projects, and advocacy to encourage and retain women in physics, from school level to senior management. The methodology and questions developed can be useful to participants interested in obtaining similar information for their own countries.

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

PubMed

Markunas, Christina A; Tubbs, R Shane; Moftakhar, Roham; Ashley-Koch, Allison E; Gregory, Simon G; Oakes, W Jerry; Speer, Marcy C; Iskandar, Bermans J

2012-04-01

Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role in the development of CM-0 versus CM-I.

Family history of cancer other than breast or ovarian cancer in first-degree relatives is associated with poor breast cancer prognosis.

PubMed

Song, Jun-Long; Chen, Chuang; Yuan, Jing-Ping; Li, Juan-Juan; Sun, Sheng-Rong

2017-04-01

Whether a first-degree family history of others cancers (FHOC) than breast or ovarian cancer (BOC) is associated with breast cancer prognosis remains unknown. Thus, the aim of the present study was to clarify this issue. Women who were diagnosed with invasive breast cancer at the Renmin Hospital of Wuhan University from 2010 to 2013 were included in the study. The demographic and clinicopathological characteristics of these patients were extracted. FHOC was considered positive for any patient who had a relative who had been diagnosed with cancer other than BOC. Disease-free survival (DFS) was calculated based on the date of diagnosis. DFS was analyzed using the Cox proportional hazards model. A total of 434 breast cancer patients were included in this study. Among these patients, 61 (14.06%) had a positive FHOC in first-degree relatives. Patients with a positive FHOC tended to have HER2-positive breast cancer (p = 0.03). In the survival analysis, FHOC was associated with poor DFS in both univariate (HR = 2.21 (1.28-3.83), 95% CI: 1.28-3.83, p < 0.01) and multivariate (HR = 2.50, 95% CI: 1.24-5.04, p = 0.01) analyses, especially in patients with luminal A subtypes. The results demonstrated an increased risk of recurrence in breast cancer patients with FHOC, especially in patients with luminal A subtype. Copyright © 2017 Elsevier Ltd. All rights reserved.

Alcohol use by alcoholics with and without a history of parental alcoholism.

PubMed

Worobec, T G; Turner, W M; O'Farrell, T J; Cutter, H S; Bayog, R D; Tsuang, M T

1990-12-01

The association between parental history of alcoholism and the nature of alcoholism was assessed using a more reliable measure of family history (Family Tree Questionnaire) and a more comprehensive inventory of alcoholism (Alcohol Use Inventory) than used in earlier studies. Parental alcoholism was associated with more severe alcoholism on most parameters of alcohol use (age of onset, quantity, frequency, preoccupation, and sustained use) and alcohol-related problems (social, vocational, physical, cognitive, and loss of control). The association between parental history of alcoholism and more severe alcoholism in the probands was independent of age of onset of alcoholism, current age, socioeconomic background, and marital status. Parental history positive (PH+) alcoholics were more reliant on alcohol to manage their moods but did not differ significantly from parental history negative (PH-) alcoholics in the use of alcohol to improve sociability or mental functioning or to cope with marital problems. Surprisingly, the degree of concern, guilt, and worry over the negative consequences of drinking was not significantly different for PH+ alcoholics although the negative consequences were clearly much more severe for this group. While the data are inconclusive about the reasons for more severe alcoholism in PH+ alcoholics, greater reliance on ethanol to manage moods and a relative insensitivity to negative consequences could theoretically account for the vulnerability to more severe alcoholism found in PH+ alcoholics.

Rationale and design of a trial to personalize risk assessment in familial coronary artery disease.

PubMed

Marwick, Thomas H; Whitmore, Kristyn; Nicholls, Stephen J; Stanton, Tony; Mitchell, Geoffrey; Tonkin, Andrew; Blizzard, Christopher; Neil, Amanda; Jones, Catherine; Watts, Gerald F

2018-05-01

The lifetime risk of coronary artery disease (CAD) is doubled in people with a family history of premature disease, yet this risk is not captured in most 5- or 10-year risk assessment algorithms. Coronary artery calcium scoring (CCS) is a marker of subclinical CAD risk, which has been shown in observational studies to provide prognostic information that is incremental to clinical assessment; is relatively inexpensive; and is performed with a small radiation dose. However, the use of CCS in guiding prevention is not strongly supported by guidelines. Showing definitive evidence of the efficacy and cost-effectiveness of CCS is therefore of importance. The proposed randomized controlled trial of the use of CCS will be targeted to 40- to 70-year-old first-degree relatives of patients with CAD onset <60 years old or second-degree relatives of patients with onset <50 years old. Control patients will undergo standard risk scoring and be blinded to CCS results. In the intervention group, primary prevention in patients undergoing CCS will be informed by this score. At 3 years, effectiveness will be assessed on change in plaque volume at computed tomography coronary angiography, the extent of which has been strongly linked to outcome. The CAUGHT-CAD trial will provide evidence to inform the guidelines regarding the place of CCS in decision making regarding primary prevention of patients with a family history of premature disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Venous thromboembolism does not share familial susceptibility with retinal vascular occlusion or glaucoma: a nationwide family study.

PubMed

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

2016-11-01

Inherited hypercoagulable states (i.e. thrombophilia) have been suggested to be involved in retinal vascular occlusion but results are divergent. Vascular micronutrition and ischemia have been hypothesised to be involved in the pathogenesis of glaucoma. This nationwide study determines the importance of family history of venous thromboembolism (VTE) as a risk factor for retinal vein occlusion (RVO), retinal artery occlusion (RAO), primary open angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). A total of 6,007,042 Swedish individuals were studied. Data from the Swedish Multigeneration Register for subjects aged 0-78 years old for the period 1997-2010 were linked to the Swedish Hospital Discharge Register and the Hospital Outpatient Register. Main exposure measure was family history of VTE in first-degree relatives (parents and/or siblings). Main outcomes were hazard ratios (HRs) for RVO, RAO, POAG, and PACG. During follow-up 9036 individuals developed RVO, 2137 individuals developed RAO, 29,176 individuals developed POAG and 1498 individuals developed PACG. There was no association between family history of VTE and risk of RVO (HR = 1.04, 95 % CI 0.98-1.10), RAO (HR = 1.00, 95 % CI 0.89-1.13), POAG (HR = 0.96, 95 % CI 0.93-0.99), and PACG (HR = 0.92, 95 % CI 0.80-1.06) in the crude age and sex adjusted model. The results were similar in the fully adjusted model: RVO (HR = 1.04, 95 % CI 0.99-1.11), RAO (HR = 1.01, 95 % CI 0.89-1.13), POAG (HR = 0.97, 95 % CI 0.94-1.00), and PACG (HR = 0.91, 95 % CI 0.79-1.05). Family history of VTE is not a risk factor for RVO, RAO, POAG and PACG. Thus, it is unlikely that strong and common genetic variants associated with VTE are of importance for these disorders.

Synchrony of Physiological Activity during Mother-Child Interaction: Moderation by Maternal History of Major Depressive Disorder

PubMed Central

Woody, Mary L.; Feurer, Cope; Sosoo, Effua E.; Hastings, Paul D.; Gibb, Brandon E.

2017-01-01

Background The family environment plays an important role in the intergenerational transmission of MDD, but less is known about how day-to-day mother-child interactions may be disrupted in families with a history of MDD. Disruptions in mother-child synchrony, the dynamic and convergent exchange of physiological and behavioral cues during interactions, may be one important risk factor. Although maternal MDD is associated with a lack of mother-child synchrony at the behavioral level, no studies have examined the impact of maternal MDD on physiological synchrony. Therefore, the current study examined whether maternal history of MDD moderates mother-child physiological synchrony (measured via RSA) during positive and negative discussions. Method Children ages 7–11 and mothers with either a history of MDD during the child’s lifetime (n=44) or no lifetime diagnosis of any mood disorder (n=50) completed positive and negative discussion tasks while RSA was continuously recorded for both child and mother. Results Results indicated significant between-dyad and within-dyad group differences in physiological synchrony during positive and negative discussions. Between-dyad analyses revealed evidence of synchrony only among never depressed dyads, among whom higher average mother RSA during both discussions was associated with higher average child RSA. Within-dyad analyses revealed that never depressed dyads displayed positive synchrony (RSA concordance) whereas dyads with a history of maternal MDD displayed negative synchrony (RSA discordance) during the negative discussion and that the degree of negative synchrony exhibited during the negative discussion was associated with mothers’ and children’s levels of sadness. Conclusions These results provide preliminary evidence that physiological synchrony is disrupted in families with a history of maternal MDD and may be a potential risk factor for the intergenerational transmission of depression. PMID:27090774

Prevalence of dental developmental anomalies: a radiographic study.

PubMed

Ezoddini, Ardakani F; Sheikhha, M H; Ahmadi, H

2007-09-01

To determine the prevalence of developmental dental anomalies in patients attending the Dental Faculty of Medical University of Yazd, Iran and the gender differences of these anomalies. A retrospective study based on the panoramic radiographs of 480 patients. Patients referred for panoramic radiographs were clinically examined, a detailed family history of any dental anomalies in their first and second degree relatives was obtained and finally their radiographs were studied in detail for the presence of dental anomalies. 40.8% of the patients had dental anomalies. The more common anomalies were dilaceration (15%), impacted teeth (8.3%) and taurodontism (7.5%) and supernumerary teeth (3.5%). Macrodontia and fusion were detected in a few radiographs (0.2%). 49.1% of male patients had dental anomalies compared to 33.8% of females. Dilaceration, taurodontism and supernumerary teeth were found to be more prevalent in men than women, whereas impacted teeth, microdontia and gemination were more frequent in women. Family history of dental anomalies was positive in 34% of the cases.. Taurodontism, gemination, dens in dente and talon cusp were specifically limited to the patients under 20 year's old, while the prevalence of other anomalies was almost the same in all groups. Dilaceration, impaction and taurodontism were relatively common in the studied populaton. A family history of dental anomalies was positive in a third of cases.

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PubMed

Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W

2015-02-01

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

PubMed Central

Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

2015-01-01

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

PubMed Central

Hunter, MJ; Hippman, Catriona; Honer, William G; Austin, Jehannine C.

2014-01-01

Purpose Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Methods Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Results Between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first-degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. Conclusions In British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access. PMID:20034078

Mothers’ perspectives on their child’s mental illness as compared to other complex disorders in their family: Insights to inform genetic counseling practice

PubMed Central

Lautenbach, Denise M.; Hiraki, Susan; Campion, MaryAnn W.; Austin, Jehannine C.

2013-01-01

To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families’ perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family’s experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history. This may impede the establishment of a therapeutic alliance. As research shows that most referrals for genetic counseling related to serious mental illness are for female first-degree family members of affected individuals, we sought to explore how this group perceives serious mental illness. To provide a frame of reference with which genetic counselors may be more familiar, we explored how women perceived serious mental illness compared to other common complex disorders in their family. We conducted semi-structured interviews with women who had a child with a serious mental illness (schizophrenia, schizoaffective disorder, bipolar disorder) and a first-degree relative with another common complex disorder (diabetes, heart disease, cancer). Interviews were transcribed and subjected to thematic analysis. Saturation was reached when nine women had participated. Serious mental illness was perceived as being more severe and as having a greater impact on the family than diabetes, heart disease, or cancer. Themes identified included guilt, stigma, and loss. Some of the most important issues that contribute to mothers’ perceptions that serious mental illness is more severe than other common complex disorders could be effectively addressed in genetic counseling. Developing a heightened awareness of how family members experience a relative’s mental illness may help genetic counselors to be better able to provide psychosocial support to this group, whether serious mental illness constitutes the primary reason for referral or appears in the family history during counseling for a different referral reason. PMID:22089936

[Mental disorders among relatives of patients with anorexia nervosa and bulimia nervosa].

PubMed

Wagner, Angela; Wöckel, Lars; Bölte, Sven; Radeloff, Daniel; Lehmkuhl, Gerd; Schmidt, Martin H; Poustka, Fritz

2008-05-01

Family studies of anorexia (AN) and bulimia (BN) nervosa in relatives of patients with eating disorders compared to control subjects are rare in German-speaking countries. A German multicenter study compared first-, second- and third-degree relatives of 65 adolescent AN subjects (n = 746), 21 adolescent BN subjects (n = 265) and relatives of 11 adolescent depressive control subjects (n = 157), as well as those of 37 adolescent healthy control subjects (n = 480). Assessments included the Diagnostic Interview for Genetic Studies (DIGS), the short form of the Family Interview of Genetic Studies (FIGS), and the Eating Disorder Family History Interview. Rates of anorexia nervosa and major depressive disorder (trend) were significantly (p < .01) higher among the first- and second-degree relatives of anorexic and bulimic subjects than among the relatives of healthy controls. Most results were more prominent among relatives of bulimic index patients. Nevertheless, the frequencies were lower in this sample than in comparable US-American samples. The data confirm the hypothesis of familial vulnerability to anorexia and bulimia nervosa. The observed differences in comorbidity patterns among eating-disordered relatives may be due to an age effect of the index patients.

Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries.

PubMed

Fallah, Mahdi; Pukkala, Eero; Tryggvadottir, Laufey; Olsen, Jörgen H; Tretli, Steinar; Sundquist, Kristina; Hemminki, Kari

2013-06-01

We aimed to estimate lifetime cumulative risk of thyroid cancer (CRTC) in first-degree relatives of patients with non-medullary thyroid cancers (NMTC), including papillary (PTC)/follicular/oxyphilic/anaplastic thyroid carcinoma, by histology and age at diagnosis in patients and their relatives. A population-based cohort of 63 495 first-degree relatives of 11 206 NMTC patients diagnosed in 1955-2009 in Nordic countries was followed for cancer incidence. Standardised incidence ratios (SIRs) were calculated using histology-specific, age-specific, sex-specific, period-specific and country-specific incidence rates as reference. The 0-84-year CRTC in female relatives of a patient with PTC was 2%, representing a threefold increase over the general population risk (SIR=2.9, 95% CI 2.4 to 3.4; Men: CRTC=1%, SIR=2.5, 95% CI 1.9 to 3.3). When there were ≥2 PTC patients diagnosed at age <60 years in a family, CRTC for female relatives was 10% (male 24%). Twins had a 23-fold increased risk of concordant PTC. Family history of follicular/oxyphilic/anaplastic carcinoma increased CRTC in relatives to about 1-2%. Although no familial case of concordant oxyphilic/anaplastic carcinoma was found, familial risks of discordant histology types of NMTC were interchangeably high for most of the types, for example, higher risk of PTC when a first-degree relative had follicular (SIR=3.0, 95%CI 1.7 to 4.9) or anaplastic (SIR=3.6, 95% CI 1.2 to 8.4) carcinoma. The earlier a patient was diagnosed with PTC in a family, the higher was the SIR in his/her younger relatives. There was a tendency towards concordant age at diagnosis of thyroid cancer among relatives of PTC patients. This study provides clinically relevant risk estimates for family members of NMTC patients.

Classification tree analysis to enhance targeting for follow-up exam of colorectal cancer screening

PubMed Central

2013-01-01

Background Follow-up rate after a fecal occult blood test (FOBT) is low worldwide. In order to increase the follow-up rate, segmentation of the target population has been proposed as a promising strategy, because an intervention can then be tailored toward specific subgroups of the population rather than using one type of intervention for all groups. The aim of this study is to identify subgroups that share the same patterns of characteristics related to follow-up exams after FOBT. Methods The study sample consisted of 143 patients aged 50–69 years who were requested to undergo follow-up exams after FOBT. A classification tree analysis was performed, using the follow-up rate as a dependent variable and sociodemographic variables, psychological variables, past FOBT and follow-up exam, family history of colorectal cancer (CRC), and history of bowel disease as predictive variables. Results The follow-up rate in 143 participants was 74.1% (n = 106). A classification tree analysis identified four subgroups as follows; (1) subgroup with a high degree of fear of CRC, unemployed and with a history of bowel disease (n = 24, 100.0% follow-up rate), (2) subgroup with a high degree of fear of CRC, unemployed and with no history of bowel disease (n = 17, 82.4% follow-up rate), (3) subgroup with a high degree of fear of CRC and employed (n = 24, 66.7% follow-up rate), and (4) subgroup with a low degree of fear of CRC (n = 78, 66.7% follow-up rate). Conclusion The identification of four subgroups with a diverse range of follow-up rates for CRC screening indicates the direction to take in future development of an effective tailored intervention strategy. PMID:24112563

Reduced risk of UC in families affected by appendicitis: a Danish national cohort study.

PubMed

Nyboe Andersen, Nynne; Gørtz, Sanne; Frisch, Morten; Jess, Tine

2017-08-01

The possible aetiological link between appendicitis and UC remains unclear. In order to investigate the hereditary component of the association, we studied the risk of UC in family members of individuals with appendicitis. A cohort of 7.1 million individuals was established by linkage of national registers in Denmark with data on kinship and diagnoses of appendicitis and UC. Poisson regression models were used to calculate first hospital contact rate ratios (RR) for UC with 95% CIs between individuals with or without relatives with a history of appendicitis. During 174 million person-years of follow-up between 1977 and 2011, a total of 190 004 cohort members developed appendicitis and 45 202 developed UC. Individuals having a first-degree relative with appendicitis before age 20 years had significantly reduced risk of UC (RR 0.90; 95% CI 0.86 to 0.95); this association was stronger in individuals with a family predisposition to UC (RR 0.66; 95% CI 0.51 to 0.83). Individuals with a first-degree relative diagnosed with appendicitis before age 20 years are at reduced risk of UC, particularly when there is a family predisposition to UC. Our findings question a previously hypothesised direct protective influence of appendicitis on inflammation of the large bowel. Rather, genetic or environmental factors linked to an increased risk of appendicitis while being protective against UC may explain the repeatedly reported reduced relative risk of UC in individuals with a history of appendicitis. 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/.

Three endocrine neoplasms: an unusual combination of pheochromocytoma, pituitary adenoma, and papillary thyroid carcinoma.

PubMed

Sisson, James C; Giordano, Thomas J; Avram, Anca M

2012-04-01

Three endocrine neoplasms-bilateral pheochromocytomas, somatotrophic pituitary adenoma inducing acromegaly, and papillary carcinoma of the thyroid-occurred concurrently in a patient. A genetic mutation was hypothesized. Possible previously described genetic mutations were explored. Clinical assessments, laboratory data, images of tumors, histopathology, and immunohistochemistry of excised tissues documented the three neoplasms. Clinical assessment of the patient, family history, and a review of the literature sought a familial basis for the disorders. The methods confirmed the presence of three endocrine neoplasms. Each neoplasm was surgically excised and histologically verified. Surgical and (131)I treatments reduced the papillary carcinoma, but eventually this tumor progressed to a lethal degree. History, including that of nine siblings, uncovered no familial neoplasms. No similar case was found in the literature, but possible associations with germline mutations were considered. The concurrent development of pheochromocytomas, pituitary somatotrophic adenoma, and papillary thyroid carcinoma appears to be unique. Nevertheless, such tumors, particularly bilateral pheochromocytomas, strongly suggest a de novo germline mutation in a gene not previously associated with multiple endocrine neoplasia syndromes.

Virginia Woolf, neuroprogression, and bipolar disorder.

PubMed

Boeira, Manuela V; Berni, Gabriela de Á; Passos, Ives C; Kauer-Sant'Anna, Márcia; Kapczinski, Flávio

2017-01-01

Family history and traumatic experiences are factors linked to bipolar disorder. It is known that the lifetime risk of bipolar disorder in relatives of a bipolar proband are 5-10% for first degree relatives and 40-70% for monozygotic co-twins. It is also known that patients with early childhood trauma present earlier onset of bipolar disorder, increased number of manic episodes, and more suicide attempts. We have recently reported that childhood trauma partly mediates the effect of family history on bipolar disorder diagnosis. In light of these findings from the scientific literature, we reviewed the work of British writer Virginia Woolf, who allegedly suffered from bipolar disorder. Her disorder was strongly related to her family background. Moreover, Virginia Woolf was sexually molested by her half siblings for nine years. Her bipolar disorder symptoms presented a pernicious course, associated with hospitalizations, suicidal behavioral, and functional impairment. The concept of neuroprogression has been used to explain the clinical deterioration that takes places in a subgroup of bipolar disorder patients. The examination of Virgina Woolf's biography and art can provide clinicians with important insights about the course of bipolar disorder.

Waardenburg syndrome: A rare genetic disorder, a report of two cases.

PubMed

Kumar, Sudesh; Rao, Kiran

2012-05-01

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

Why Is It Important to Know My Family Medical History?

MedlinePlus

... is it important to know my family medical history? A family medical history is a record of ... professional regularly. For more information about family medical history: Educational resources related to family health history are ...

Effects of prenatal alcohol and cigarette exposure on offspring substance use in multiplex, alcohol-dependent families.

PubMed

O'Brien, Jessica W; Hill, Shirley Y

2014-12-01

Prenatal exposures to alcohol, cigarettes, and other drugs of abuse are associated with numerous adverse consequences for affected offspring, including increased risk for substance use and abuse. However, maternal substance use during pregnancy appears to occur more often in those with a family history of alcohol dependence. Utilizing a sample that is enriched for familial alcohol dependence and includes controls selected for virtual absence of familial alcohol dependence could provide important information on the relative contribution of familial risk and prenatal exposures to offspring substance use. A sample of multigenerational families specifically ascertained to be at either high or low risk for developing alcohol dependence (AD) provided biological offspring for a longitudinal prospective study. High-risk families were selected based on the presence of 2 alcohol-dependent sisters. Low-risk families were selected on the basis of minimal first and second-degree relatives with AD. High-risk (HR = 99) and Low-risk offspring (LR = 110) were assessed annually during childhood and biennially in young adulthood regarding their alcohol, drug, and cigarette use. At the first childhood visit, mothers were interviewed concerning their prenatal use of substances. High-risk mothers were more likely to use alcohol, cigarettes, and other drugs during pregnancy than low-risk control mothers, and to consume these substances in greater quantities. Across the sample, prenatal exposure to alcohol was associated with increased risk for both offspring cigarette use and substance use disorders (SUD), and prenatal cigarette exposure was associated with increased risk for offspring cigarette use. Controlling for risk status by examining patterns within the HR sample, prenatal cigarette exposure remained a specific predictor of offspring cigarette use, and prenatal alcohol exposure was specifically associated with increased risk for offspring SUD. Women with a family history of SUD are at increased risk for substance use during pregnancy. Both familial loading for alcohol dependence and prenatal exposure to alcohol or cigarettes are important risk factors in the development of offspring substance use. An inadequate assessment of family history may obscure important interactions between familial risk and prenatal exposures on offspring outcomes. Copyright © 2015 by the Research Society on Alcoholism.

Frequency of a positive family history of colorectal cancer in general practice: a cross-sectional study.

PubMed

Plath, Jasper; Siebenhofer, Andrea; Koné, Insa; Hechtner, Marlene; Schulz-Rothe, Sylvia; Beyer, Martin; Gerlach, Ferdinand M; Guethlin, Corina

2017-02-01

Evidence on the frequency of a positive family history of colorectal cancer (CRC) among individuals aged <55 years is lacking. General practice setting might be well suited for the identification of individuals in this above-average risk group. To determine the frequency of a reported positive family history of CRC among patients aged 40 to 54 years in a general practice setting. We conducted a cross-sectional study in 21 general practices in Germany. Patients aged 40 to 54 years were identified by means of the practice software and interviewed by health care assistants using a standardized four-item questionnaire. Outcome was occurrence of a positive family history of CRC, defined as at least one first-degree relative (FDR: parents, siblings, or children) with CRC. Further measurements were FDRs with CRC / colorectal polyps (adenomas) diagnosed before the age of 50 and occurrence of three or more relatives with colorectal, stomach, cervical, ovarian, urethel or renal pelvic cancer. Out of 6723 participants, 7.2% (95% confidence interval [CI] 6.6% to 7.8%) reported at least one FDR with CRC and 1.2% (95% CI 0.9% to 1.5%) reported FDRs with CRC diagnosed before the age of 50. A further 2.6% (95% CI 2.3% to 3.0%) reported colorectal polyps in FDRs diagnosed before the age of 50 and 2.1% (95% CI 1.8% to 2.5%) reported three or more relatives with entities mentioned above. One in 14 patients reported at least one FDR with CRC. General practice should be considered when defining requirements of risk-adapted CRC screening. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Risk factors for multiple myeloma: a hospital-based case-control study in Northwest China.

PubMed

Wang, Qixia; Wang, Yiwei; Ji, Zhaohua; Chen, Xiequn; Pan, Yaozhu; Gao, Guangxun; Gu, Hongtao; Yang, Yang; Choi, Bernard C K; Yan, Yongping

2012-10-01

The distinctive racial/ethnic and geographic distribution of multiple myeloma (MM) suggests that both family history and environmental factors may contribute to its development. A hospital-based case-control study consisting of 220 confirmed MM cases and 220 individually matched patient controls, by sex, age and hospital was carried out at 5 major hospitals in Northwest China. A questionnaire was used to obtain information on demographics, family history, and the frequency of food items consumed. Based on multivariate analysis, a significant association between the risk of MM and family history of cancers in first degree relatives was observed (OR=4.03, 95% CI: 2.50-6.52). Fried food, cured/smoked food, black tea, and fish were not significantly associated with the risk of MM. Intake of shallot and garlic (OR=0.60, 95% CI: 0.43-0.85), soy food (OR=0.52, 95% CI: 0.36-0.75) and green tea (OR=0.38, 95% CI: 0.27-0.53) was significantly associated with a reduced risk of MM. In contrast, intake of brined vegetables and pickle was significantly associated with an increased risk (OR=2.03, 95% CI: 1.41-2.93). A more than multiplicative interaction on the decreased risk of MM was found between shallot/garlic and soy food. Our study in Northwest China found an increased risk of MM with a family history of cancer, a diet characterized by low consumption of garlic, green tea and soy foods, and high consumption of pickled vegetables. The effect of green tea in reducing the risk of MM is an interesting new finding which should be further confirmed. Copyright © 2012 Elsevier Ltd. All rights reserved.

Genetic liability, prenatal health, stress and family environment: risk factors in the Harvard Adolescent Family High Risk for schizophrenia study.

PubMed

Walder, Deborah J; Faraone, Stephen V; Glatt, Stephen J; Tsuang, Ming T; Seidman, Larry J

2014-08-01

The familial ("genetic") high-risk (FHR) paradigm enables assessment of individuals at risk for schizophrenia based on a positive family history of schizophrenia in first-degree, biological relatives. This strategy presumes genetic transmission of abnormal traits given high heritability of the illness. It is plausible, however, that adverse environmental factors are also transmitted in these families. Few studies have evaluated both biological and environmental factors within a FHR study of adolescents. We conceptualize four precursors to psychosis pathogenesis: two biological (genetic predisposition, prenatal health issues (PHIs)) and two environmental (family environment, stressful life events (SLEs)). Participants assessed between 1998 and 2007 (ages 13-25) included 40 (20F/20M) adolescents at FHR for schizophrenia (FHRs) and 55 (31F/24M) community controls. 'Genetic load' indexed number of affected family members relative to pedigree size. PHI was significantly greater among FHRs, and family cohesion and expressiveness were less (and family conflict was higher) among FHRs; however, groups did not significantly differ in SLE indices. Among FHRs, genetic liability was significantly associated with PHI and family expressiveness. Prenatal and family environmental disruptions are elevated in families with a first-degree relative with schizophrenia. Findings support our proposed 'polygenic neurodevelopmental diathesis-stress model' whereby psychosis susceptibility (and resilience) involves the independent and synergistic confluence of (temporally-sensitive) biological and environmental factors across development. Recognition of biological and social environmental influences across critical developmental periods points to key issues relevant for enhanced identification of psychosis susceptibility, facilitation of more precise models of illness risk, and development of novel prevention strategies. Copyright © 2014 Elsevier B.V. All rights reserved.

Family Aggregation and Heritability of ESRD in Taiwan: A Population-Based Study.

PubMed

Wu, Hsin Hsu; Kuo, Chang Fu; Li, I Jung; Weng, Cheng Hao; Lee, Cheng Chia; Tu, Kun Hua; Liu, Shou Hsuan; Chen, Yung Chang; Yang, Chih Wei; Luo, Shue Fen; See, Lai Chu; Yu, Kuang Hui; Huang, Lu Hsiang; Zhang, Weiya; Doherty, Michael; Tian, Ya Chung

2017-11-01

Aggregation of end-stage renal disease (ESRD) has been observed in families of European origin, as well as those of African origin. However, it is not well documented if this disease aggregates in Asian families. Furthermore, the contribution of genetic factors and shared environmental factors to family aggregation remains unclear. Population-based cross-sectional cohort study. All 23,422,955 individuals registered in the Taiwan National Health Insurance Research Database in 2013. Among these, 47.45%, 57.45%, 47.29%, and 1.51% had a known parent, child, sibling, or twin, respectively. We identified 87,849 patients who had a diagnosis of ESRD. Family history of ESRD. ESRD and heritability defined as the proportion of phenotypic variance attributable to genetic factors. Having an affected first-degree relative with ESRD was associated with an adjusted relative risk of 2.46 (95% CI, 2.32-2.62). Relative risks were 96.38 (95% CI, 48.3-192.34) for twins of patients with ESRD, 2.15 (95% CI, 2.02-2.29) for parents, 2.78 (95% CI, 2.53-3.05) for offspring, 4.96 (95% CI, 4.19-5.88) for siblings, and 1.66 (95% CI, 1.54-1.78) for spouses without genetic similarities. Heritability in this study was 31.1% to 11.4% for shared environmental factors and 57.5% for nonshared environmental factors. This was a registry database study and we did not have detailed information about clinical findings or the definite causes of ESRD. This whole population-based family study in Asia confirmed, in a Taiwanese population, that a family history of ESRD is a strong risk factor for this disease. Moderate heritability was noted and environmental factors were related to disease. Family history of ESRD is an important piece of clinical information. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Personality Disorders, Impulsiveness, and Novelty Seeking in Persons with DSM-IV Pathological Gambling and Their First-Degree Relatives.

PubMed

Black, Donald W; Coryell, William H; Crowe, Raymond R; Shaw, Martha; McCormick, Brett; Allen, Jeff

2015-12-01

This study investigates the presence of personality disorders, impulsiveness, and novelty seeking in probands with DSM-IV pathological gambling (PG), controls, and their respective first-degree relatives using a blind family study methodology. Ninety-three probands with DSM-IV PG, 91 controls, and their 395 first-degree relatives were evaluated for the presence of personality disorder with the Structured Interview for DSM-IV Personality. Impulsiveness was assessed with the Barratt Impulsiveness Scale (BIS). Novelty seeking was evaluated using questions from Cloninger's Temperament and Character Inventory. Results were analyzed using logistic regression by the method of generalized estimating equations to account for within family correlations. PG probands had a significantly higher prevalence of personality disorders than controls (41 vs. 7 %, OR = 9.0, P < 0.001), along with higher levels of impulsiveness and novelty seeking. PG probands with a personality disorder had more severe gambling symptoms; earlier age at PG onset; more suicide attempts; greater psychiatric comorbidity; and a greater family history of psychiatric illness than PG probands without a personality disorder. PG relatives had a significantly higher prevalence of personality disorder than relatives of controls (24 vs. 9%, OR = 3.2, P < 0.001) and higher levels of impulsiveness. Risk for PG in relatives is associated with the presence of personality disorder and increases along with rising BIS Non-Planning and Total scale scores. Personality disorders, impulsiveness, and novelty seeking are common in people with PG and their first-degree relatives. The presence of a personality disorder appears to be a marker of PG severity and earlier age of onset. Risk for PG in relatives is associated with the presence of personality disorder and trait impulsiveness. These findings suggest that personality disorder and impulsiveness may contribute to a familial diathesis for PG.

Anxiety and assertiveness in the relatives of alcoholics and controls.

PubMed

Schuckit, M A

1982-06-01

The Rathus Assertiveness Schedule (RAS) and the Spielberger State-Trait Anxiety Inventory A-Trait Scale (STAI) were administered to male university students and nonacademic staff. Subjects classified as "at-risk" on the basis of a history of alcoholism in a first-degree relative (N = 30) were compared to controls with no such family histories (N = 30). The two groups were matched on demographic variables and drinking history. No significant differences were found between the groups on the traits of anxiety or assertiveness, although the subjects hypothesized to be at higher risk for alcoholism showed a trend toward higher assertiveness scores. These findings are not consistent with the hypothesis that higher levels of anxiety and/or lower levels of assertiveness predispose an individual toward the development of alcoholism.

My History Is America's History: 15 Things You Can Do To Save America's Stories.

ERIC Educational Resources Information Center

National Endowment for the Humanities (NFAH), Washington, DC.

The theme of this guidebook is "Follow your family's history and you will discover America's history." The guidebook offers a way for everyone to explore family history to discover how family stories connect to the history of the nation. It suggests that a family history can be started with a single old photo, letter, or family tale that can be…

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

PubMed

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.

Creating a family health history

MedlinePlus

Family health history; Create a family health history; Family medical history ... Many factors affect your health. These include your: Genes Diet and exercise habits Environment Family members tend to share certain behaviors, genetic traits, and habits. ...

Family history in public health practice: a genomic tool for disease prevention and health promotion.

PubMed

Valdez, Rodolfo; Yoon, Paula W; Qureshi, Nadeem; Green, Ridgely Fisk; Khoury, Muin J

2010-01-01

Family history is a risk factor for many chronic diseases, including cancer, cardiovascular disease, and diabetes. Professional guidelines usually include family history to assess health risk, initiate interventions, and motivate behavioral changes. The advantages of family history over other genomic tools include a lower cost, greater acceptability, and a reflection of shared genetic and environmental factors. However, the utility of family history in public health has been poorly explored. To establish family history as a public health tool, it needs to be evaluated within the ACCE framework (analytical validity; clinical validity; clinical utility; and ethical, legal, and social issues). Currently, private and public organizations are developing tools to collect standardized family histories of many diseases. Their goal is to create family history tools that have decision support capabilities and are compatible with electronic health records. These advances will help realize the potential of family history as a public health tool.

Waardenburg syndrome: A rare genetic disorder, a report of two cases

PubMed Central

Kumar, Sudesh; Rao, Kiran

2012-01-01

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated. PMID:23162308

Psychological, behavioral and social effects of disclosing Alzheimer's disease biomarkers to research participants: a systematic review.

PubMed

Bemelmans, S A S A; Tromp, K; Bunnik, E M; Milne, R J; Badger, S; Brayne, C; Schermer, M H; Richard, E

2016-11-10

Current Alzheimer's disease (AD) research initiatives focus on cognitively healthy individuals with biomarkers that are associated with the development of AD. It is unclear whether biomarker results should be returned to research participants and what the psychological, behavioral and social effects of disclosure are. This systematic review therefore examines the psychological, behavioral and social effects of disclosing genetic and nongenetic AD-related biomarkers to cognitively healthy research participants. We performed a systematic literature search in eight scientific databases. Three independent reviewers screened the identified records and selected relevant articles. Results extracted from the included articles were aggregated and presented per effect group. Fourteen studies met the inclusion criteria and were included in the data synthesis. None of the identified studies examined the effects of disclosing nongenetic biomarkers. All studies but one concerned the disclosure of APOE genotype and were conducted in the USA. Study populations consisted largely of cognitively healthy first-degree relatives of AD patients. In this group, disclosure of an increased risk was not associated with anxiety, depression or changes in perceived risk in relation to family history. Disclosure of an increased risk did lead to an increase in specific test-related distress levels, health-related behavior changes and long-term care insurance uptake and possibly diminished memory functioning. In cognitively healthy research participants with a first-degree relative with AD, disclosure of APOE ε4-positivity does not lead to elevated anxiety and depression levels, but does increase test-related distress and results in behavior changes concerning insurance and health. We did not find studies reporting the effects of disclosing nongenetic biomarkers and only one study included people without a family history of AD. Empirical studies on the effects of disclosing nongenetic biomarkers and of disclosure to persons without a family history of AD are urgently needed. PROSPERO international prospective register for systematic reviews CRD42016035388 . Registered 19 February 2016.

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review.

PubMed

Yokoyama, Takanori; Takehara, Kazuhiro; Sugimoto, Nao; Kaneko, Keika; Fujimoto, Etsuko; Okazawa-Sakai, Mika; Okame, Shinichi; Shiroyama, Yuko; Yokoyama, Takashi; Teramoto, Norihiro; Ohsumi, Shozo; Saito, Shinya; Imai, Kazuho; Sugano, Kokichi

2018-05-21

Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer. Here we report a woman who developed endometrial cancer at the age of 49 years. She had a family history of colorectal cancer (first-degree relative aged 52 years) and stomach cancer (second-degree relative with the age of onset unknown). No other family history was present, and she failed to meet the Amsterdam II criteria for the diagnosis of Lynch syndrome. Losses of MLH1 and PMS2, but not MSH2 and MSH6, proteins were observed by IHC in endometrial cancer tissues. Because MLH1 promoter hypermethylation was detected in endometrial cancer tissue samples, the epigenetic silencing of MLH1 was suspected as the cause of the protein loss. However, because of the early onset of endometrial cancer and the positive family history, a diagnosis of Lynch syndrome was also suspected. Therefore, we provided her with genetic counseling. After obtaining her consent, MLH1 promoter methylation testing and genetic testing of peripheral blood were performed. MLH1 promoter methylation was not observed in peripheral blood. However, genetic testing revealed a large deletion of exon 5 in MLH1; thus, we diagnosed the presence of Lynch syndrome. Both MLH1 germline mutation and MLH1 promoter hypermethylation may be observed in endometrial cancer. Therefore, even if MLH1 promoter hypermethylation is detected, a diagnosis of Lynch syndrome cannot be excluded.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

PubMed

Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

2017-08-24

Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant. Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Medical history, lifestyle, family history, and occupational risk factors for mantle cell lymphoma: the InterLymph Non-Hodgkin Lymphoma Subtypes Project.

PubMed

Smedby, Karin E; Sampson, Joshua N; Turner, Jennifer J; Slager, Susan L; Maynadié, Marc; Roman, Eve; Habermann, Thomas M; Flowers, Christopher R; Berndt, Sonja I; Bracci, Paige M; Hjalgrim, Henrik; Weisenburger, Dennis D; Morton, Lindsay M

2014-08-01

The etiology of mantle cell lymphoma (MCL), a distinctive subtype accounting for 2%-10% of all non-Hodgkin lymphoma, is not known. We investigated associations with self-reported medical history, lifestyle, family history, and occupational risk factors in a pooled analysis of 557 patients with MCL and 13766 controls from 13 case-control studies in Europe, North America, and Australia. Odds ratios (ORs) and 95% confidence intervals (CIs) associated with each exposure were examined using multivariate logistic regression models. The median age of the MCL patients was 62 years and 76% were men. Risk of MCL was inversely associated with history of hay fever (OR = 0.63, 95% CI = 0.48 to 0.82), and the association was independent of other atopic diseases and allergies. A hematological malignancy among first-degree relatives was associated with a twofold increased risk of MCL (OR = 1.99, 95% CI = 1.39 to 2.84), which was stronger in men (OR = 2.21, 95% CI = 1.44 to 3.38) than women (OR = 1.61, 95% CI = 0.82 to 3.19). A modestly increased risk of MCL was also observed in association with ever having lived on a farm (OR = 1.40, 95% CI = 1.03 to 1.90). Unlike some other non-Hodgkin lymphoma subtypes, MCL risk was not statistically significantly associated with autoimmune disorders, tobacco smoking, alcohol intake, body mass index, or ultraviolet radiation. The novel observations of a possible role for atopy and allergy and farm life in risk of MCL, together with confirmatory evidence of a familial link, suggest a multifactorial etiology of immune-related environmental exposures and genetic susceptibility. These findings provide guidance for future research in MCL etiology. Published by Oxford University Press 2014.

Breast cancer correlates in a cohort of breast screening program participants in Riyadh, KSA.

PubMed

Al-Amri, Fahad A; Saeedi, Mohammed Y; Al-Tahan, Fatina M; Ali, Arwa M; Alomary, Shaker A; Arafa, Mostafa; Ibrahim, Ahmed K; Kassim, Kassim A

2015-06-01

Breast cancer is the first cancer among females in the Kingdom of Saudi Arabia, accounting for 27.4% of all newly diagnosed female cancers in 2010. There are several risk factors affecting the incidence of breast cancer where some factors influence the risk more than the others. We aimed to identify the different risk factors related to breast cancer among females participating in the breast-screening program in Riyadh, KSA. Based on data from phase-I of the breast-screening program, a case-control study was conducted on women living in Riyadh, KSA. A sample of 349 women (58 cases and 290 controls) was recruited to examine the different breast cancer correlates. Multivariate regression model was built to investigate the most important risk factors. The mean age of cases was 48.5±7.1 years. Age at marriage, number of pregnancy, age at menopause, oral contraceptive pills, breast feeding and family history of breast cancer in first-degree relative were identified as the most important correlates among the studied cohort. The findings of the current work suggested that age at marriage, age at menopause ⩾50 years and 1st degree family history of breast cancer were risk factors for breast cancer, while, age at menopause <50 years, number of pregnancies and practicing breast feeding were protective factors against breast cancer. There was no effect of body mass index or physical inactivity. Further studies are needed to explore the hereditary, familial and genetic background risk factors in Saudi population. Copyright © 2015 The Authors. Production and hosting by Elsevier B.V. All rights reserved.

Familial aggregation of gout and relative genetic and environmental contributions: a nationwide population study in Taiwan

PubMed Central

Kuo, Chang-Fu; Grainge, Matthew J; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Valdes, Ana M; Zhang, Weiya; Doherty, Michael

2015-01-01

Objective To examine familial aggregation of gout and to estimate the heritability and environmental contributions to gout susceptibility in the general population. Methods Using data from the National Health Insurance (NHI) Research Database in Taiwan, we conducted a nationwide cross-sectional study of data collected from 22 643 748 beneficiaries of the NHI in 2004; among them 1 045 059 individuals had physician-diagnosed gout. We estimated relative risks (RR) of gout in individuals with affected first-degree and second-degree relatives and relative contributions of genes (heritability), common environment shared by family members and non-shared environment to gout susceptibility. Results RRs for gout were significantly higher in individuals with affected first-degree relatives (men, 1.91 (95% CI 1.90 to 1.93); women, 1.97 (95% CI 1.94 to 1.99)) and also in those with affected second-degree relatives (men, 1.27 (95% CI 1.23 to 1.31); women, 1.40 (95% CI 1.35 to 1.46)). RRs (95% CIs) for individuals with an affected twin, sibling, offspring, parent, grandchild, nephew/niece, uncle/aunt and grandparent were 8.02 (6.95 to 9.26), 2.59 (2.54 to 2.63), 1.96 (1.95 to 1.97), 1.93 (1.91 to 1.94), 1.48 (1.43 to 1.53), 1.40 (1.32 to 1.47), 1.31 (1.24 to 1.39), and 1.26 (1.21 to 1.30), respectively. The relative contributions of heritability, common and non-shared environmental factors to phenotypic variance of gout were 35.1, 28.1 and 36.8% in men and 17.0, 18.5 and 64.5% in women, respectively. Conclusions This population-based study confirms that gout aggregates within families. The risk of gout is higher in people with a family history. Genetic and environmental factors contribute to gout aetiology, and the relative contributions are sexually dimorphic. PMID:24265412

Risk of familial classical Hodgkin lymphoma by relationship, histology, age, and sex: a joint study from five Nordic countries.

PubMed

Kharazmi, Elham; Fallah, Mahdi; Pukkala, Eero; Olsen, Jörgen H; Tryggvadottir, Laufey; Sundquist, Kristina; Tretli, Steinar; Hemminki, Kari

2015-10-22

We aimed to provide the familial risk of classical Hodgkin lymphoma (HL) by relationship, histology, age at diagnosis, and sex. A cohort of 57,475 first-degree relatives of 13,922 HL patients diagnosed between 1955 and 2009 in 5 European countries was observed for HL incidence. The overall lifetime cumulative risk (CR) of HL in first-degree relatives of a patient with HL was 0.6%, which represents a threefold (standardized incidence ratio [SIR], 3.3; 95% confidence interval [CI], 2.8-3.9) increased risk over the general population risk. The risk in siblings (6.0-fold; 95% CI, 4.8- to 7.4-fold) was significantly higher than in parents and/or children (2.1-fold; 95% CI, 1.6- to 2.6-fold). Very high lifetime risk of HL was found for those with multiple affected first-degree relatives (13-fold; 95% CI, 2.8- to 39-fold) and for same-sex twins (57-fold; 95% CI, 21- to 125-fold). We found high familial risks between some concordant histologic subtypes of HL such as lymphocyte-rich (81-fold; 95% CI, 30- to 177-fold) and nodular sclerosis (4.6-fold; 95% CI, 2.9- to 7.0-fold) and also between some discordant subtypes. The familial risk in sisters (9.4-fold; 95% CI, 5.9- to 14-fold) was higher than in brothers (4.5-fold; 95% CI, 2.9- to 6.7-fold) or unlike-sex siblings (5.9-fold; 95% CI, 4.3- to 8.1-fold). The lifetime risk of HL was higher when first-degree relatives were diagnosed at early ages (before age 30 years). This study provides tangible absolute risk estimates for relatives of HL patients, which can be used as a sex-, age-, and family history-based risk calculator for classical HL by oncologists and genetic counselors. © 2015 by The American Society of Hematology.

Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.

PubMed

Reiner, Anne S; Sisti, Julia; John, Esther M; Lynch, Charles F; Brooks, Jennifer D; Mellemkjær, Lene; Boice, John D; Knight, Julia A; Concannon, Patrick; Capanu, Marinela; Tischkowitz, Marc; Robson, Mark; Liang, Xiaolin; Woods, Meghan; Conti, David V; Duggan, David; Shore, Roy; Stram, Daniel O; Thomas, Duncan C; Malone, Kathleen E; Bernstein, Leslie; Bernstein, Jonine L

2018-05-20

Purpose The Women's Environmental Cancer and Radiation Epidemiology (WECARE) study demonstrated the importance of breast cancer family history on contralateral breast cancer (CBC) risk, even for noncarriers of deleterious BRCA1/2 mutations. With the completion of WECARE II, updated risk estimates are reported. Additional analyses that exclude women negative for deleterious mutations in ATM, CHEK2*1100delC, and PALB2 were performed. Patients and Methods The WECARE Study is a population-based case-control study that compared 1,521 CBC cases with 2,212 individually matched unilateral breast cancer (UBC) controls. Participants were younger than age 55 years when diagnosed with a first invasive breast cancer between 1985 and 2008. Women were interviewed about breast cancer risk factors, including family history. A subset of women was screened for deleterious mutations in BRCA1/2, ATM, CHEK2*1100delC, and PALB2. Rate ratios (RRs) were estimated using multivariable conditional logistic regression. Cumulative absolute risks (ARs) were estimated by combining RRs from the WECARE Study and population-based SEER*Stat cancer incidence data. Results Women with any first-degree relative with breast cancer had a 10-year AR of 8.1% for CBC (95% CI, 6.7% to 9.8%). Risks also were increased if the relative was diagnosed at an age younger than 40 years (10-year AR, 13.5%; 95% CI, 8.8% to 20.8%) or with CBC (10-year AR, 14.1%; 95% CI, 9.5% to 20.7%). These risks are comparable with those seen in BRCA1/2 deleterious mutation carriers (10-year AR, 18.4%; 95% CI, 16.0% to 21.3%). In the subset of women who tested negative for deleterious mutations in BRCA1/2, ATM, CHEK2*1100delC, and PALB2, estimates were unchanged. Adjustment for known breast cancer single-nucleotide polymorphisms did not affect estimates. Conclusion Breast cancer family history confers a high CBC risk, even after excluding women with deleterious mutations. Clinicians are urged to use detailed family histories to guide treatment and future screening decisions for young women with breast cancer.

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

PubMed

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.

Do people really know what makes a family history of cancer?

PubMed

Lim, Jennifer N W; Hewison, Jenny

2014-12-01

Family history is often referred to as a family tree in casual everyday conservations, but it carries a different connotation in medicine. This study is the first to investigate people's understanding of 'family medical history' and the concept of 'family' in the context of inherited cancer. Three hundred and nine staff at the Faculty of Medicine and Health, University of Leeds completed an online web survey. Not all respondents understood or knew what makes a family history of cancer. Only 54% knew exactly the type of information required to make a family history. Apart from blood relatives, adopted and step-siblings, step parents, in-laws, spouses, friends and colleagues were also named as 'family' for family history taking. Personal experience of living with cancer and academic qualification were not significant in influencing knowledge of family history. There is misunderstanding and poor knowledge of family history of cancer and the type of information required to make a family history even in a sample of people teaching and researching medicine and health issues. Public understanding of the value of family medical history in cancer prevention and management is important if informed clinical decisions and appropriate health care are to be delivered. © 2012 John Wiley & Sons Ltd.

Familial aggregation of suicide explained by cluster B traits: a three-group family study of suicide controlling for major depressive disorder.

PubMed

McGirr, Alexander; Alda, Martin; Séguin, Monique; Cabot, Sophie; Lesage, Alain; Turecki, Gustavo

2009-10-01

There is substantial evidence suggesting that suicide aggregates in families. However, the extent of overlap between the liability to suicide and psychiatric disorders, particularly major depressive disorder, remains an important issue. Similarly, factors that account for the familial transmission of suicidal behavior remain unclear. Thus, through direct and blind assessment of first-degree relatives, the authors conducted a family study of suicide by examining three proband groups: probands who committed suicide in the context of major depressive disorder, living depressed probands with no history of suicidal behavior, and psychiatrically normal community comparison probands. Participants were 718 first-degree relatives from 120 families: 296 relatives of 51 depressed probands who committed suicide, 185 relatives of 34 nonsuicidal depressed probands, and 237 relatives of 35 community comparison subjects. Psychopathology, suicidal behavior, and behavioral measures were assessed via interviews. The relatives of probands who committed suicide had higher levels of suicidal behavior (10.8%) than the relatives of nonsuicidal depressed probands (6.5%) and community comparison probands (3.4%). Testing cluster B traits as intermediate phenotypes of suicide showed that the relatives of depressed probands who committed suicide had elevated levels of cluster B traits; familial predisposition to suicide was associated with increased levels of cluster B traits; cluster B traits demonstrated familial aggregation and were associated with suicide attempts among relatives; and cluster B traits mediated, at least in part, the relationship between familial predisposition and suicide attempts among relatives. Analyses were repeated for severity of attempts, where cluster B traits also met criteria for endophenotypes of suicide. Familial transmission of suicide and major depression, while partially overlapping, are distinct. Cluster B traits and impulsive-aggressive behavior represent intermediate phenotypes of suicide.

Family History

MedlinePlus

... CDC Cancel Submit Search The CDC Family Health History Note: Javascript is disabled or is not supported ... visit this page: About CDC.gov . Family Health History The Basics Family Health History & Chronic Disease Planning ...

Substantial Family History of Prostate Cancer in Black Men Recruited for Prostate Cancer Screening

PubMed Central

Mastalski, Kathleen; Coups, Elliot J.; Ruth, Karen; Raysor, Susan; Giri, Veda N.

2008-01-01

Background Black men are at increased risk for prostate cancer (PCA), particularly with a family history (FH) of the disease. Previous reports have raised concern for suboptimal screening of Black men with a FH of PCA. We report on the extent of FH of PCA from a prospective, longitudinal PCA screening program for high-risk men. Methods Black men ages 35-69 are eligible for PCA screening through the Prostate Cancer Risk Assessment Program (PRAP) regardless of FH. Rates of self-reported FH of PCA, breast, and colon cancer at baseline were compared with an age-matched sample of Black men from the 2005 National Health Interview Survey (NHIS) using standard statistical methods. Results As of January 2007, 332 Black men with pedigree information were enrolled in PRAP and FH of PCA was compared to 838 Black men from the 2005 NHIS. Black men in PRAP reported significantly more first-degree relatives with PCA compared to Black men in the 2005 NHIS (34.3%, 95% CI 29.2-39.7 vs. 5.7%, 95% CI 3.9-7.4). Black men in PRAP also had more FH of breast cancer compared to the 2005 NHIS (11.5%, 95% CI 8.2-15.4 vs 6.3%, 95% CI 4.6-8.0). Conclusions FH of PCA appears to be a motivating factor for Black men seeking PCA screening. Targeted recruitment and education among Black families should improve PCA screening rates. Efforts to recruit Black men without a FH of PCA are also needed. Condensed Abstract Black men seeking prostate cancer screening have a substantial burden of family history of prostate cancer. Targeted education and enhancing discussion in Black families should increase prostate cancer screening and adherence. PMID:18816608

Independent evolution of complex life history adaptations in two families of fishes, live-bearing halfbeaks (zenarchopteridae, beloniformes) and poeciliidae (cyprinodontiformes).

PubMed

Reznick, David; Meredith, Robert; Collette, Bruce B

2007-11-01

We have previously documented multiple, independent origins of placentas in the fish family Poeciliidae. Here we summarize similar analyses of fishes in the family Zenarchopteridae. This family includes three live-bearing genera. Earlier studies documented the presence of superfetation, or the ability to carry multiple litters of young in different stages of development in the same ovary, in some species in all three genera. There is also one earlier report of matrotrophy, or extensive postfertilization maternal provisioning, in two of these genera. We present detailed life-history data for approximately half of the species in all three genera and combine them with the best available phylogeny to make inferences about the pattern of life-history evolution within this family. Three species of Hemirhamphodon have superfetation but lack matrotrophy. Most species in Nomorhamphus and Dermogenys either lack superfetation and matrotrophy or have both superfetation and matrotrophy. Our phylogenetic analysis shows that matrotrophy may have evolved independently in each genus. In Dermogenys, matrotrophic species produce fewer, larger offspring than nonmatrotrophic species. In Nomorhamphus; matrotrophic species instead produce more and smaller offspring than lecithotrophic species. However, the matrotrophic species in both genera have significantly smaller masses of reproductive tissue relative to their body sizes. All aspects of these results are duplicated in the fish family Poeciliidae. We discuss the possible adaptive significance of matrotrophy in the light of these new results. The two families together present a remarkable opportunity to study the evolution of a complex trait because they contain multiple, independent origins of the trait that often include close relatives that vary in either the presence or absence of the matrotrophy or in the degree to which matrotrophy is developed. These are the raw materials that are required for either an analysis of the adaptive significance of the trait or for studies of the genetic mechanisms that underlie the evolution of the trait.

Prevalence of stuttering in primary school children in Cairo-Egypt.

PubMed

Abou Ella, Mahmoud; Saleh, Marwa; Habil, Ihab; El Sawy, Mohammed; El Assal, Lamia

2015-01-01

To determine the prevalence of stuttering among primary school children in Cairo. A cross-sectional design was employed. Using a multi-stage random sample from 10 schools in Cairo, a total of 8765 primary school students were enrolled in the study. The teacher referring method was initially used to detect stuttering students, which was then confirmed by a Speech Language Pathologist (SLP) using Diagnostic and Statistical Manual for Mental Disorders-Fourth Edition (DSM-IV) criteria. Personal data were collected for all students and separate questionnaires were administered to the parents of each stuttering child, inquiring about consanguinity, family history, presence of other disorders and family attitudes towards the child. Prevalence of stuttering among primary school children in Cairo was 1.03%. The prevalence of stuttering showed a declining trend in the older age group. Stuttering was 7-fold more prevalent among left-handed students. Males had a higher prevalence of stuttering, but didn't reach statistical significance. Anxiety was expressed in 25% of the families of affected children. Positive family history was found in 28% of cases, mainly among first-degree relatives. The current study showed a prevalence of stuttering comparable to other areas of the world with some evidence of hereditary background, although lower than that reported by other studies.

Risk of cancer in first- and second-degree relatives of testicular germ cell tumor cases and controls

PubMed Central

Chia, Victoria M.; Li, Yan; Goldin, Lynn R.; Graubard, Barry I.; Greene, Mark H.; Korde, Larissa; Rubertone, Mark V.; Erickson, Ralph L.; McGlynn, Katherine A.

2008-01-01

Risk factors for testicular germ cell tumors (TGCT) have not been well-identified, however, data suggest that risks of cancer in family members of men with TGCT is elevated. Using family history data from 738 cases and 904 controls enrolled in the U.S. Servicemen's Testicular Tumor Environmental and Endocrine Determinants (STEED) Study from 2002−2005, the risk of cancer in first- and second-degree family members of these men was examined. Relative risks (RR) and 95% confidence intervals (CI) were estimated using Cox proportional hazards models, adjusting for reference age of case or control, race/ethnicity of case or control, sex of family member, and lineage (maternal versus paternal). An increased risk of all cancer among first-degree relatives of cases compared to controls was observed (RR=1.17, 95% CI, 1.01−1.35). There were suggestions of differences in risk when stratifying all relatives by lineage. For maternal relatives, there was a statistically significant increased risk of all cancer (RR=1.16, 95% CI, 1.04−1.30), digestive tract (RR=1.52, 95% CI, 1.15−2.00), and male genital organ cancer (RR=1.70, 95% CI, 1.15−2.51); there was also a suggestion of increased risks of hematopoetic cancers, cancers in the female genital organs, and non-melanoma skin cancer. For paternal relatives, there was a statistically significant association only with decreased risk of lung cancer (RR=0.69, 95% CI, 0.51−0.94). Thus, this study suggests that there may be aggregation of cancer among families of men diagnosed with TGCT. PMID:19035442

Determining the familial risk distribution of colorectal cancer: a data mining approach.

PubMed

Chau, Rowena; Jenkins, Mark A; Buchanan, Daniel D; Ait Ouakrim, Driss; Giles, Graham G; Casey, Graham; Gallinger, Steven; Haile, Robert W; Le Marchand, Loic; Newcomb, Polly A; Lindor, Noralane M; Hopper, John L; Win, Aung Ko

2016-04-01

This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index was developed to quantify familial cancer aggregation. Artificial neural network was used to identify distinct categories of familial risk. Standardized incidence ratios (SIRs) and corresponding 95% confidence intervals (CIs) of colorectal cancer were calculated for each category. We identified five major, and 66 minor categories of familial risk for developing colorectal cancer. The distribution the major risk categories were: (1) 7% of families (SIR = 7.11; 95% CI 6.65-7.59) had a strong family history of colorectal cancer; (2) 13% of families (SIR = 2.94; 95% CI 2.78-3.10) had a moderate family history of colorectal cancer; (3) 11% of families (SIR = 1.23; 95% CI 1.12-1.36) had a strong family history of breast cancer and a weak family history of colorectal cancer; (4) 9 % of families (SIR = 1.06; 95 % CI 0.96-1.18) had strong family history of prostate cancer and weak family history of colorectal cancer; and (5) 60% of families (SIR = 0.61; 95% CI 0.57-0.65) had a weak family history of all cancers. There is a wide variation of colorectal cancer risk that can be categorized by family history of cancer, with a strong gradient of colorectal cancer risk between the highest and lowest risk categories. The risk of colorectal cancer for people with the highest risk category of family history (7% of the population) was 12-times that for people in the lowest risk category (60%) of the population. Data mining was proven an effective approach for gaining insight into the underlying cancer aggregation patterns and for categorizing familial risk of colorectal cancer.

Determining the familial risk distribution of colorectal cancer: A data mining approach

PubMed Central

Chau, Rowena; Jenkins, Mark A.; Buchanan, Daniel D.; Ouakrim, Driss Ait; Giles, Graham G.; Casey, Graham; Gallinger, Steven; Haile, Robert W.; Le Marchand, Loic; Newcomb, Polly A.; Lindor, Noralane M.; Hopper, John L.; Win, Aung Ko

2016-01-01

This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index was developed to quantify familial cancer aggregation. Artificial neural network was used to identify distinct categories of familial risk. Standardized incidence ratios (SIRs) and corresponding 95% confidence intervals (CIs) of colorectal cancer were calculated for each category. We identified five major, and sixty-six minor categories of familial risk for developing colorectal cancer. The distribution the major risk categories were: (i) 7% of families (SIR=7.11; 95%CI=6.65–7.59) had a strong family history of colorectal cancer; (ii) 13% of families (SIR=2.94; 95%CI=2.78–3.10) had a moderate family history of colorectal cancer; (iii) 11% of families (SIR=1.23; 95%CI=1.12–1.36) had a strong family history of breast cancer and weak family history of colorectal cancer; (iv) 9% of families (SIR=1.06; 95% CI=0.96–1.18) had a strong family history of prostate cancer and a weak family history of colorectal cancer; and (v) 60% of families (SIR=0.61; 95%CI=0.57–0.65) had weak family history of all cancers. There is a wide variation of colorectal cancer risk that can be categorized by family history of cancer, with a strong gradient of colorectal cancer risk between the highest and lowest risk categories. The risk of colorectal cancer for people with the highest risk category of family history (7% of the population) was 12-times that for people in the lowest risk category (60%) of the population. Data mining was proven an effective approach for gaining insight into the underlying cancer aggregation patterns and for categorizing familial risk of colorectal cancer. PMID:26681340

The Myths of Who We Are: Meritocracy, Teachers, and Perceptions of Working-Class Family Histories

ERIC Educational Resources Information Center

Lorsbach, Anthony W.; Lucey, Thomas A.

2015-01-01

This research study interpreted family histories written by teachers enrolled in graduate programs in education in the United States. The family histories described feature ancestors from the working class. Though their family histories are characterized by poverty and unemployment, three of the four teachers interpreted their family histories as…

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

PubMed Central

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 <0.4). Estimates of variability in disease liability attributable to the aggregate effect of genome-wide SNPs were significantly greater for family 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 previous epidemiological studies. PMID:26663532

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations

PubMed Central

Markunas, Christina A.; Tubbs, R. Shane; Moftakhar, Roham; Ashley-Koch, Allison E.; Gregory, Simon G.; Oakes, W. Jerry; Speer, Marcy C.; Iskandar, Bermans J.

2012-01-01

Object Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Methods Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Results Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. Conclusions There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role in the development of CM-0 versus CM-I. PMID:22462700

Mammographic screening in women with a family history of breast cancer: some results from the Swedish two-county trial.

PubMed

Nixon, R M; Pharoah, P; Tabar, L; Krusemo, U B; Duffy, S W; Prevost, T C; Chen, H H

2000-08-01

The objective of this study is to compare the effectiveness of mammographic screening in women with a family history of breast cancer to those without. In the invited arm of a randomised trial of breast cancer screening, data on family history of breast cancer were available on 29.179 women aged 40-74 attending for screening. Among those women, 358 were diagnosed with breast cancer during the trial. Those with and without a family history were compared with respect to mammographic parenchymal pattern, interval cancer rates, mean sojourn time and sensitivity of screening. In the 358 cancers, the effect of family history was estimated on survival, incidence of advanced cancers and their relationship to screen detection. A significantly higher proportion of high risk mammographic patterns was observed in association with family history among women aged 40-49. Interval cancer rates were higher in women with a family history, and in older women at least, mean sojourn time was shortened in women with a family history (1.89 years compared to 2.70). Survival was better (although not significantly so) in cancers in women with a family history (relative hazard=0.52) independently of detection mode and was significantly poorer in interval cancers then screen detected cancers (relative hazard=2.72) independently of family history. Similarly, interval cancers tended to be larger, and worse malignancy grade in those with and without a family history of breast cancer. These results suggest that the policy often adopted of annual screening for woman aged 40-49, with a family history of breast cancer, is a reasonable one, and that it may also be necessary to shorten the inter-screening interval to one year in women aged over 50 but with a positive family history.

Family history of inflammatory bowel disease among patients with ulcerative colitis: a systematic review and meta-analysis.

PubMed

Childers, Ryan E; Eluri, Swathi; Vazquez, Christine; Weise, Rayna Matsuno; Bayless, Theodore M; Hutfless, Susan

2014-11-01

Despite numerous shared susceptibility loci between Crohn's disease and ulcerative colitis, the prevalence of family history among ulcerative colitis patients is not well-established and considered to be less prevalent. A systemic review and meta-analysis were conducted to estimate the prevalence of family history of inflammatory bowel disease in ulcerative colitis patients, and its effect on disease outcomes. PubMED was searched to identify studies reporting the prevalence of family history of inflammatory bowel disease among ulcerative colitis patients. Definitions of family history, study type, and subtypes of family history prevalence were abstracted, as were disease outcomes including age at ulcerative colitis diagnosis, disease location, surgery and extraintestinal manifestations. Pooled prevalence estimates were calculated using random effects models. Seventy-one studies (86,824 patients) were included. The prevalence of a family history of inflammatory bowel disease in ulcerative colitis patients was 12% (95% confidence interval [CI] 11 to 13%; range 0-39%). Family history of ulcerative colitis (9%; 22 studies) was more prevalent than Crohn's disease (2%; 18 studies). Patients younger than 18years of age at time of diagnosis had a greater family history of inflammatory bowel disease (prevalence 15%, 95% CI: 11-20%; 13 studies). There were no differences in disease location, need for surgery, or extraintestinal manifestations among those with a family history, although very few studies reported on these outcomes. Overall, 12% of ulcerative colitis patients have a family history of inflammatory bowel disease, and were more likely to have a family history of ulcerative colitis than Crohn's disease. Pediatric-onset ulcerative colitis patients were more likely to have a family history of inflammatory bowel disease. Copyright © 2014 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.

Suicide attempts and clinical features of bipolar patients.

PubMed

Berkol, Tonguç D; İslam, Serkan; Kırlı, Ebru; Pınarbaşı, Rasim; Özyıldırım, İlker

2016-06-01

To identify clinical predictors of suicide attempts in patients with bipolar disorder. This study included bipolar patients who were treated in the Psychiatry Department, Haseki Training and Research Hospital, Istanbul, Turkey, between 2013 and 2014; an informed consent was obtained from the participants. Two  hundred and eighteen bipolar patients were assessed by using the structured clinical interview for Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) Axis-I (SCID-I) in order to detect all possible psychiatric comorbid diagnoses. Clinical predictors of suicide attempts were examined in attempters and non-attempters. The study design was retrospective. The lifetime suicide attempt rate for the entire sample was 19.2%. Suicide attempters with bipolar disorder had more lifetime comorbidity of eating disorder. Female gender and family history of mood disorder were significant predictors for suicide attempts. There was no difference between groups in terms of bipolar disorder subtype, onset age of bipolar disorder, total number of episodes, first and predominant episode type, suicide history in first degree relatives, severity of episodes, and hospitalization and being psychotic. Our study revealed that female gender, family history of mood disorder, and eating disorder are more frequent in bipolar patients with at least one suicide attempt.

Understanding the Contribution of Family History to Colorectal Cancer Risk and Its Clinical Implications: A State-of-the-Science Review

PubMed Central

Lowery, Jan T; Ahnen, Dennis J; Schroy, Paul C.; Hampel, Heather; Baxter, Nancy; Boland, C. Richard; Burt, Randall W; Butterly, Lynn; Doerr, Megan; Doroshenk, Mary; Feero, W. Gregory; Henrikson, Nora; Ladabaum, Uri; Lieberman, David; McFarland, Elizabeth G; Peterson, Susan K; Raymond, Martha; Samadder, N. Jewel; Syngal, Sapna; Weber, Thomas K.; Zauber, Ann G; Smith, Robert

2017-01-01

Background Persons with a family history (FH) of colorectal cancer (CRC) or adenomas that are not due to known hereditary syndromes have increased risk for CRC. Understanding these risks, screening recommendations and screening behaviors can inform strategies to reduce CRC burden in these families. Methods A comprehensive review of literature published within the past 10 years was conducted to assess what is known about cancer risk, screening guidelines, adherence and barriers to screening and effective interventions in persons with FH of CRC, and to identify FH tools used to identify these individuals and inform care. Results Existing data show that having one affected first-degree relative (FDR) increases CRC risk by 2-fold, and risk increases with multiple affected FDRs and younger age at diagnosis. There was variability in screening recommendations across consensus guidelines. Screening adherence was <50% and lower in persons under age 50. Having a provider’s recommendation, multiple affected relatives and family encouragement facilitated screening; insufficient collection of FH, low knowledge of guidelines, and poor family communication were important barriers. Effective interventions incorporated strategies for overcoming barriers but these have not been tested broadly in clinical settings. Conclusions Four strategies for reducing CRC in persons with familial risk are suggested: 1) improve how we collect and utilize cancer FH, 2) establish consensus for screening guidelines by FH, 3) enhance provider-patient knowledge of guidelines and communication about CRC risk, 4) encourage survivors to promote screening within their families, and partner with existing screening programs to expand reach to high-risk groups. PMID:27258162

Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.

PubMed

Fernlund, Eva; Österberg, A Wålinder; Kuchinskaya, E; Gustafsson, M; Jansson, K; Gunnarsson, C

2017-08-01

Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy. A cascade family screening was performed in the family after identification of the TNNT2 and the BAG3 variants in the proband. The first-degree relatives underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, exercise stress test, and targeted genetic testing. The index patient presented with advanced DCM. After a severe clinical course, the baby had external left ventricular assist as a bridge to heart transplantation. 1.5 months after transplantation, the baby suffered sudden cardiac death (SCD) despite maximal treatment in the pediatric intensive care unit. The patient was shown to carry two heterozygous genetic variants in the TNNT2 gene [TNNT2 c.518G>A(p.Arg173Gln)] and BAG3 [BAG3 c.785C>T(p.Ala262Val)]. Two of the screened individuals (two females) appeared to carry both the familial variants. All the individuals carrying the TNNT2 variant presented with DCM, the two adult patients had mild or moderate symptoms of heart failure and reported palpitations but no syncope or presyncopal attacks prior to the genetic diagnosis. The female carriers of TNNT2 and BAG3 variants had more advanced DCM. In the family history, there were three additional cases of SCD due to DCM, diagnosed by autopsy, but no genetic analysis was possible in these cases. Our findings suggest that the variants in TNNT2 and BAG3 are associated with a high propensity to life-threatening cardiomyopathy presenting from childhood and young adulthood.

Childhood Sexual Abuse Moderates the Association between Sexual Functioning and Sexual Distress in Women

PubMed Central

Stephenson, Kyle R.; Hughan, Corey P.; Meston, Cindy M.

2012-01-01

Objective To assess the degree to which a history of CSA moderates the association between sexual functioning and sexual distress in women. Method Women with (n = 105, M age = 33.71, 66.1% Caucasian) and without (n = 71, M age = 32.63, 74.7% Caucasian) a history of CSA taking part in a larger clinical trial completed self-report questionnaires at intake including the Sexual Satisfaction Scale for Women (SSS-W), the Female Sexual Function Index (FSFI), and the Trauma History Questionnaire (THQ). Results Desire, arousal, lubrication, and orgasm interacted with sexual abuse status in predicting sexual distress such that sexual functioning was more weakly associated with distress for women with a history of CSA. This disconnect was more pronounced for women who were abused by a family member. Conclusion CSA status serves as an important moderator of the association between sexual functioning and sexual distress in women. Specifically, women with a history of CSA show higher levels of distress in the context of good sexual functioning as compared to women without a history of CSA. Possible explanations and clinical implications are discussed. PMID:22391416

The ten thousand Kims

NASA Astrophysics Data System (ADS)

Baek, Seung Ki; Minnhagen, Petter; Kim, Beom Jun

2011-07-01

In Korean culture, the names of family members are recorded in special family books. This makes it possible to follow the distribution of Korean family names far back in history. It is shown here that these name distributions are well described by a simple null model, the random group formation (RGF) model. This model makes it possible to predict how the name distributions change and these predictions are shown to be borne out. In particular, the RGF model predicts that for married women entering a collection of family books in a certain year, the occurrence of the most common family name 'Kim' should be directly proportional to the total number of married women with the same proportionality constant for all the years. This prediction is also borne out to a high degree. We speculate that it reflects some inherent social stability in the Korean culture. In addition, we obtain an estimate of the total population of the Korean culture down to the year 500 AD, based on the RGF model, and find about ten thousand Kims.

Improving Utilization of the Family History in the Electronic Health Record.

PubMed

Hickey, Kathleen T; Katapodi, Maria C; Coleman, Bernice; Reuter-Rice, Karin; Starkweather, Angela R

2017-01-01

The purpose of this article is to provide an overview of Family History in the Electronic Health Record and to identify opportunities to advance the contributions of nurses in obtaining, updating and assessing family history in order to improve the health of all individuals and populations. The article presents an overview of the obstacles to charting Family History within the Electronic Health Record and recommendations for using specific Family History tools and core Family History data sets. Opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified. These opportunities are focused within the area of promoting the importance of communication within families and between healthcare providers to obtain, document, and update family histories. Nurses can increase awareness of existing resources that can guide collection of a comprehensive and accurate family history and facilitate family discussions. In this paper, opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified. Aligned with the clinical preparation of nurses, family health should be used routinely by nurses for risk assessment and to help inform patient and family members on screening, health promotion, and disease prevention. The quality of family health information is critical in order to leverage the use of genomic healthcare information and derive new knowledge about disease biology, treatment efficacy, and drug safety. These actionable steps need to be performed in the context of promoting evidence-based applications of family history that will be essential for implementing personalized genomic healthcare approaches and disease prevention efforts. Family health history is one of the most important tools for identifying the risk of developing rare and chronic conditions, including cardiovascular disease, cancer, and diabetes, and represents an integration of disease risk from genetic, environmental, and behavioral/lifestyle factors. In fact, family history has long been recognized as a strong independent risk factor for disease and is the current best practice used in clinical practice to guide risk assessment. © 2016 Sigma Theta Tau International.

Synchrony of physiological activity during mother-child interaction: moderation by maternal history of major depressive disorder.

PubMed

Woody, Mary L; Feurer, Cope; Sosoo, Effua E; Hastings, Paul D; Gibb, Brandon E

2016-07-01

Family environment plays an important role in the intergenerational transmission of major depressive disorder (MDD), but less is known about how day-to-day mother-child interactions may be disrupted in families with a history of MDD. Disruptions in mother-child synchrony, the dynamic and convergent exchange of physiological and behavioral cues during interactions, may be one important risk factor. Although maternal MDD is associated with a lack of mother-child synchrony at the behavioral level, no studies have examined the impact of maternal MDD on physiological synchrony. Therefore, this study examined whether maternal history of MDD moderates mother-child physiological synchrony [measured via respiratory sinus arrhythmia (RSA)] during positive and negative discussions. Children aged 7-11 years and mothers with either a history of MDD during the child's lifetime (n = 44) or no lifetime diagnosis of any mood disorder (n = 50) completed positive and negative discussion tasks while RSA was continuously recorded for both child and mother. Results indicated significant between-dyad and within-dyad group differences in physiological synchrony during positive and negative discussions. Between-dyad analyses revealed evidence of synchrony only among never depressed dyads, among whom higher average mother RSA during both discussions was associated with higher average child RSA. Within-dyad analyses revealed that never depressed dyads displayed positive synchrony (RSA concordance), whereas dyads with a history of maternal MDD displayed negative synchrony (RSA discordance) during the negative discussion and that the degree of negative synchrony exhibited during the negative discussion was associated with mothers' and children's levels of sadness. These results provide preliminary evidence that physiological synchrony is disrupted in families with a history of maternal MDD and may be a potential risk factor for the intergenerational transmission of depression. © 2016 Association for Child and Adolescent Mental Health.

The effect of chronic disease family history on healthcare provider practice and patient behavior among Oregonians.

PubMed

Zlot, A I; Cox, S L; Silvey, K; Leman, R

2012-01-01

Family history is an independent risk factor for many chronic conditions. Therefore, efforts to prevent these diseases among asymptomatic people at high familial risk are justified to reduce the health burden of these chronic conditions. We analyzed 2006-2009 Oregon Behavioral Risk Factor Surveillance System data to examine associations between family history of diabetes, cardiovascular disease (CVD), colorectal cancer (CRC), breast cancer (BC), and: (1) patient-reported clinician recommendations, (2) adoption of preventive and screening behaviors, and (3) chronic disease risk factors among respondents without a personal history of the condition. A positive family history was associated with a higher likelihood of reported discussion by clinicians of CRC and BC screening and a greater likelihood of respondents having cholesterol and CRC screening. The combination of family history and clinician recommendations significantly increased the odds of CRC and BC screening compared to family history alone. A positive family history was also associated with respondents reporting lifestyle changes to prevent diabetes, CVD, and CRC, but not BC. Awareness of family history prompts clinicians to recommend screening and may motivate patients to be screened. Understanding positive family history may also motivate patients to adopt healthy lifestyles. Copyright © 2012 S. Karger AG, Basel.

[Expression and clinical significance of KIAA1199 in primary hepatocellular carcinoma].

PubMed

Gu, C J; Ni, Q C; Ni, K; Zhang, S; Qian, H X

2018-05-29

Objective: To investigate the expression and clinical significance of KIAA1199 in primary hepatocellular carcinoma. Methods: A total of 136 cases of primary hepatocellular carcinoma tissues and paired adjacent tissues were collected. Immunohistochemistry and Western blot were used to detect the expression of KIAA1199 in primary hepatocellular carcinoma tissues and paired adjacent tissues. The relationship between KIAA1199 and clinicopathological parameter of primary hepatocellular carcinoma was analyzed. Results: The positive rate of KIAA1199 in primary hepatocellular carcinoma was 82.3% (112/136), which was higher than that in paired para-cancerous tissues (14.7%, 20/136). High expression of KIAA1199 was significantly correlated with age, cirrhosis history, tumor size, tumor number, degree of differentiation, TNM staging and microvenous invasion (MVI) ( P <0.05), but without gender, drinking alcohol hobby, hepatitis history, family genetic history, tumor location ( P >0.05). The Kaplan-Meier survival curves indicated that high KIAA1199 expression was associated with poor survival ( P <0.01). In addition, Cox proportional hazards model showed that the expression of KIAA1199 was related to age, cirrhosis history, tumor size, tumor number, degree of differentiation, TNM staging and MVI ( P <0.05). Conclusion: The expression of KIAA1199 is up-regulated in primary hepatocellular carcinoma, which is significantly correlated with the clinicopathological features and prognosis, high expression of KIAA1199 increased the risk of death in patients with primary hepatocellular carcinoma.

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

PubMed

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.

A population-based cross-sectional study of colorectal cancer screening practices of first-degree relatives of colorectal cancer patients

PubMed Central

2013-01-01

Background The aim of this study was to determine the proportions and predictors of first-degree relatives (FDRs) of colorectal cancer (CRC) patients (i) ever receiving any CRC testing and (ii) receiving CRC screening in accordance with CRC screening guidelines. Methods Colorectal cancer patients and their FDRs were recruited through the population-based Victorian Cancer Registry, Victoria, Australia. Seven hundred and seven FDRs completed telephone interviews. Of these, 405 FDRs were deemed asymptomatic and eligible for analysis. Results Sixty-nine percent of FDRs had ever received any CRC testing. First-degree relatives of older age, those with private health insurance, siblings and FDRs who had ever been asked about family history of CRC by a doctor were significantly more likely than their counterparts to have ever received CRC testing. Twenty-five percent of FDRs “at or slightly above average risk” were adherent to CRC screening guidelines. For this group, adherence to guideline-recommended screening was significantly more likely to occur for male FDRs and those with a higher level of education. For persons at “moderately increased risk” and “potentially high risk”, 47% and 49% respectively adhered to CRC screening guidelines. For this group, guideline-recommended screening was significantly more likely to occur for FDRs who were living in metropolitan areas, siblings, those married or partnered and those ever asked about family history of CRC. Conclusions A significant level of non-compliance with screening guidelines was evident among FDRs. Improved CRC screening in accordance with guidelines and effective systematic interventions to increase screening rates among population groups experiencing inequality are needed. Trial Registration Australian and New Zealand Clinical Trial Registry: ACTRN12609000628246 PMID:23305355

Plant family identity distinguishes patterns of carbon and nitrogen stable isotope abundance and nitrogen concentration in mycoheterotrophic plants associated with ectomycorrhizal fungi

PubMed Central

Hynson, Nicole A.; Schiebold, Julienne M.-I.; Gebauer, Gerhard

2016-01-01

Background and Aims Mycoheterotrophy entails plants meeting all or a portion of their carbon (C) demands via symbiotic interactions with root-inhabiting mycorrhizal fungi. Ecophysiological traits of mycoheterotrophs, such as their C stable isotope abundances, strongly correlate with the degree of species’ dependency on fungal C gains relative to C gains via photosynthesis. Less explored is the relationship between plant evolutionary history and mycoheterotrophic plant ecophysiology. We hypothesized that the C and nitrogen (N) stable isotope compositions, and N concentrations of fully and partially mycoheterotrophic species differentiate them from autotrophs, and that plant family identity would be an additional and significant explanatory factor for differences in these traits among species. We focused on mycoheterotrophic species that associate with ectomycorrhizal fungi from plant families Ericaceae and Orchidaceae. Methods Published and unpublished data were compiled on the N concentrations, C and N stable isotope abundances (δ13C and δ15N) of fully (n = 18) and partially (n = 22) mycoheterotrophic species from each plant family as well as corresponding autotrophic reference species (n = 156). These data were used to calculate site-independent C and N stable isotope enrichment factors (ε). Then we tested for differences in N concentration, 13C and 15N enrichment among plant families and trophic strategies. Key Results We found that in addition to differentiating partially and fully mycoheterotrophic species from each other and from autotrophs, C and N stable isotope enrichment also differentiates plant species based on familial identity. Differences in N concentrations clustered at the plant family level rather than the degree of dependency on mycoheterotrophy. Conclusions We posit that differences in stable isotope composition and N concentrations are related to plant family-specific physiological interactions with fungi and their environments. PMID:27451987

Family History Is a Risk Factor for COPD

PubMed Central

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

Risk Factors of Atrophic Gastritis and Intestinal Metaplasia in First-Degree Relatives of Gastric Cancer Patients Compared with Age-Sex Matched Controls

PubMed Central

Oh, Sooyeon; Kim, Nayoung; Yoon, Hyuk; Choi, Yun Jin; Lee, Ju Yup; Park, Kyoung Jun; Kim, Hee Jin; Kang, Kyu Keun; Oh, Dong Hyun; Seo, A Young; Lee, Jae Woo; Shin, Cheol Min; Park, Young Soo; Oh, Jane C.; Lee, Dong Ho; Jung, Hyun Chae

2013-01-01

Background: To identify whether first-degree relatives (FDRs) of gastric cancer (GC) patients have increased risk for atrophic gastritis (AG) and intestinal metaplasia (IM) in relation to other risk factors of GC. Methods: The study cohort consisted of 224 pairs of age-sex matched controls and FDRs. AG and IM in the gastric mucosa were scored histologically using the updated Sydney classification. Risk of having AG and IM was studied by comparing FDRs to controls. Impacts of age, H. pylori infection, smoking, dietary and socioeconomic factors on the presence of AG and IM were studied. Results: In multivariate regression analysis, FDRs had adjusted OR of 2.69 (95% CI 1.06–6.80, P=0.037) for antral IM in male population. Adjusted OR for antral AG and IM were 9.28 (95% CI 4.73–18.18, P<0.001) and 7.81 (95% CI 3.72–16.40, P<0.001) for the H. pylori infected subjects in total population. Getting old by 5 years increased the ORs of having AG and IM by approximately 1.25 fold (P<0.001). Spicy food increased the OR of antral IM by 2.28 fold (95% CI 1.36–3.84, P=0.002). Conclusions: Family history of GC was an independent risk factor for antral IM in male in our study, which could be one reason for the increase of gastric cancer in the family member of gastric cancer. It could be an evidence for the necessity of frequent endoscopy in the presence of family history of GC compared to general population in male. PMID:25337541

Prostate cancer family history and eligibility for active surveillance: a systematic review of the literature.

PubMed

Telang, Jaya M; Lane, Brian R; Cher, Michael L; Miller, David C; Dupree, James M

2017-10-01

Active surveillance (AS) is an increasingly prevalent treatment choice for low grade prostate cancer. Eligibility criteria for AS are varied and it is unclear if family history of prostate cancer should be used as an exclusion criterion when considering men for AS. To determine whether family history plays a significant role in the progression of prostate cancer for men undergoing active surveillance, PubMed searches of 'family history and prostate cancer', 'family history and prostate cancer progression' and 'factors of prostate cancer progression' were used to identify research publications about the relationship between family history and prostate cancer progression. These searches generated 536 papers that were screened and reviewed. Six publications were ultimately included in this analysis. Review of the six publications suggests that family history does not increase the risk of prostate cancer progression, whilst a subgroup analysis in one study found that family history increases the risk of prostate cancer progression only in African-Americans. A family history of prostate cancer does not appear to increase a patient's risk of having more aggressive prostate cancer and is therefore unlikely to be an important factor in determining eligibility for AS. Further studies are needed to better understand the relationship between race, family history, and eligibility for AS. © 2017 The Authors BJU International © 2017 BJU International Published by John Wiley & Sons Ltd.

Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis: Impact of Family History.

PubMed

Malbari, Fatema; Spira, Menachem; B Knight, Pamela; Zhu, Chong; Roth, Michael; Gill, Jonathan; Abbott, Rick; Levy, Adam S

2018-04-20

The main objective of this study was to determine if family history of malignant peripheral nerve sheath tumor (MPNST) increases risk of developing an MPNST in patients with neurofibromatosis-1 (NF-1). Individuals with NF-1 registered with the Children's Tumor Foundation's Neurofibromatosis Registry were emailed an anonymous 15-minute survey with regard to personal and family history of NF-1, MPNST, ages of onset, and symptomatology. Participation was voluntary and information was self-reported. The survey was sent to 4801 registrants, 878 responded. Presence of a family history of MPNST was found to be a risk factor for the development of MPNST; 19.4% of respondents confirming a family history of MPNST developed MPNST compared with 7.5% of respondents with no family history (odds ratio, 2.975; 95% confidence interval, 1.232-7.187; P=0.021). NF-1 patients with a positive family history developed MPNST at a younger age than those with no family history (8.3% vs. 0.5% P=0.003 and 13.9% vs. 2.4% P=0.003, for onset before 10 and 20, respectively). In the MPNST population with a known family history, onset prior to age 10 was significantly more prevalent (42.9% vs. 7% P=0.029). These results suggest a positive family history of MPNST represents a risk factor for the development and early onset of MPNST in individuals with NF-1.

Opposite Cannabis-Cognition Associations in Psychotic Patients Depending on Family History.

PubMed

González-Pinto, Ana; González-Ortega, Itxaso; Alberich, Susana; Ruiz de Azúa, Sonia; Bernardo, Miguel; Bioque, Miquel; Cabrera, Bibiana; Corripio, Iluminada; Arango, Celso; Lobo, Antonio; Sánchez-Torres, Ana M; Cuesta, Manuel J

2016-01-01

The objective of this study is to investigate cognitive performance in a first-episode psychosis sample, when stratifying the interaction by cannabis use and familial or non-familial psychosis. Hierarchical-regression models were used to analyse this association in a sample of 268 first-episode psychosis patients and 237 controls. We found that cannabis use was associated with worse working memory, regardless of family history. However, cannabis use was clearly associated with worse cognitive performance in patients with no family history of psychosis, in cognitive domains including verbal memory, executive function and global cognitive index, whereas cannabis users with a family history of psychosis performed better in these domains. The main finding of the study is that there is an interaction between cannabis use and a family history of psychosis in the areas of verbal memory, executive function and global cognition: that is, cannabis use is associated with a better performance in patients with a family history of psychosis and a worse performance in those with no family history of psychosis. In order to confirm this hypothesis, future research should explore the actual expression of the endocannabinoid system in patients with and without a family history of psychosis.

Opposite Cannabis-Cognition Associations in Psychotic Patients Depending on Family History

PubMed Central

González-Pinto, Ana; González-Ortega, Itxaso; Alberich, Susana; Ruiz de Azúa, Sonia; Bernardo, Miguel; Bioque, Miquel; Cabrera, Bibiana; Corripio, Iluminada; Arango, Celso; Lobo, Antonio; Sánchez-Torres, Ana M.; Cuesta, Manuel J.

2016-01-01

The objective of this study is to investigate cognitive performance in a first-episode psychosis sample, when stratifying the interaction by cannabis use and familial or non-familial psychosis. Hierarchical-regression models were used to analyse this association in a sample of 268 first-episode psychosis patients and 237 controls. We found that cannabis use was associated with worse working memory, regardless of family history. However, cannabis use was clearly associated with worse cognitive performance in patients with no family history of psychosis, in cognitive domains including verbal memory, executive function and global cognitive index, whereas cannabis users with a family history of psychosis performed better in these domains. The main finding of the study is that there is an interaction between cannabis use and a family history of psychosis in the areas of verbal memory, executive function and global cognition: that is, cannabis use is associated with a better performance in patients with a family history of psychosis and a worse performance in those with no family history of psychosis. In order to confirm this hypothesis, future research should explore the actual expression of the endocannabinoid system in patients with and without a family history of psychosis. PMID:27513670

Prevalence of Alzheimer's pathologic endophenotypes in asymptomatic and mildly impaired first-degree relatives.

PubMed

Lampert, Erika J; Roy Choudhury, Kingshuk; Hostage, Christopher A; Petrella, Jeffrey R; Doraiswamy, P Murali

2013-01-01

A positive family history (FH) is a risk factor for late-onset Alzheimer's disease (AD). Our aim was to examine the effects of FH on pathological and neuronal loss biomarkers across the cognitive spectrum. Cross-sectional analyses of data from a national biomarker study. The Alzheimer's Disease Neuroimaging Initiative national study. 257 subjects (ages 55-89), divided into cognitively normal (CN), mild cognitive impairment (MCI), and AD groups, with CSF and FH data. Cerebrospinal fluid (CSF) Aβ42, tau, and tau/Aβ42 ratio, MRI-measured hippocampal volumes. Univariate and multivariate analyses. In MCI, CSF Aβ42 was lower (p = .005), t-tau was higher (p = 0.02) and t-tau/Aβ42 ratio was higher (p = 0.002) in FH+ than FH- subjects. A significant residual effect of FH on pathologic markers in MCI remained after adjusting for ApoE4 (p<0.05). Among CN, 47% of FH+ exhibited "pathologic signature of AD" (CSF t-tau/Aβ42 ratio >0.39) versus 21% of FH- controls (p = 0.03). The FH effect was not significant in AD subjects. Hippocampal and intracranial volumes did not differ between FH+ and FH- subjects in any group. A positive family history of late-onset AD is associated with a higher prevalence of an abnormal cerebral beta-amyloid and tau protein phenotype in MCI. The unexplained genetic heritability in family history is about the half the size of the ApoE4 effect. Longitudinal studies are warranted to more definitively examine this issue.

Risk factors for diabetes, but not for cardiovascular disease, are associated with family history of Type 2 diabetes in subjects from central Mexico.

PubMed

Zamora-Ginez, Irma; Pérez-Fuentes, Ricardo; Baez-Duarte, Blanca G; Revilla-Monsalve, Cristina; Brambila, Eduardo

2012-03-01

Independent of obesity, family history of type 2 diabetes mellitus (FHT2DM) is another important risk factor for developing diabetes. To establish the association among FHT2DM, risk factors for diabetes and cardiovascular disease in subjects from central Mexico. Clinical and biochemical studies were performed in 383 first-degree relatives of patients with type 2 diabetes and 270 subjects unrelated to patients with type 2 diabetes-all subjects were from the city of Puebla in central Mexico. Logistic regressions were used to assess the association between FHT2DM and metabolic parameters. Cardiovascular risk was classified by dyslipidemia and the Framingham Risk Score (FRS). FHT2DM was associated with risk factors for diabetes, such as increased fasting insulin levels (OR = 1.731, 95% CI = 1.041-2.877), decreased insulin sensitivity (OR = 1.951, 95% CI = 1.236-3.080) and pre-diabetes (OR = 1.63, 95% CI = 1.14-2.33). FHT2DH was not associated with risk factors for cardiovascular disease, such as dyslipidemia (OR = 1.12, 95% CI = 0.70-1.79) and FRS (OR = 0.74, 95% CI = 0.40-1.36) when adjusted for gender, age, smoking and obesity. Diabetic risk factors, but not cardiovascular disease risk factors, are associated with a positive family history of diabetes in subjects from central Mexico, independent of the presence of obesity.

Clinical implications of single- versus multiple-site keloid disorder: a retrospective study in an Asian population.

PubMed

Park, Tae Hwan; Park, Ji Hae; Tirgan, Michael H; Halim, Ahmad Sukari; Chang, Choong Hyun

2015-02-01

There is strong evidence of genetic susceptibility in individuals with keloid disorder. The purpose of this cross-sectional study was to determine the clinical relevance of our proposed variables on the multiplicity of keloids by further investigating the presence of other keloids and a family history. This was a retrospective review, using institutional review board-approved questionnaires, of patients with keloids who were seen at Kangbuk Samsung Hospital between December 2002 and February 2010. Eight hundred sixty-eight patients were included in our study. Comparisons between the 2 groups were made using Mann-Whitney tests for continuous variables and χ2 tests for categorical variables. In our patient group, younger age of onset and the presence of family history were significantly associated with the occurrence of keloids at multiple sites. The locations of extra-auricular keloids, in order of frequency, included the shoulder; anterior chest, including the breasts; deltoid; trunk and pubic area; upper extremities; lower extremities; and other sites. As compared to secondary keloids, primary keloids were significantly associated with both a lower degree of recurrence and the presence of other keloids. The presence or absence of family history was significantly associated with the presence or absence of other keloids and primary or secondary keloids. Keloid disorder is one of the most frustrating problems in wound healing and advances in our understanding of the differences of occurrence at a single site versus multiple sites might help in understanding pathogenesis and improving treatment.

Glucose intolerance, insulin resistance and cardiovascular risk factors in first degree relatives of women with polycystic ovary syndrome.

PubMed

Yilmaz, Murat; Bukan, Neslihan; Ersoy, Reyhan; Karakoç, Ayhan; Yetkin, Ilhan; Ayvaz, Göksun; Cakir, Nuri; Arslan, Metin

2005-09-01

The aim of the present study was to evaluate insulin resistance (IR), glucose tolerance status and cardiovascular risk factors in first degree relatives of patients with polycystic ovary syndrome (PCOS). A total of 120 family members [Mothers(PCOS) (n = 40), Fathers(PCOS) (n = 38), Sisters(PCOS) (n = 25) and Brothers(PCOS) (n = 17)] of 55 patients with PCOS and 75 unrelated healthy control subjects without a family history of diabetes or PCOS (four age- and weight-matched subgroups, i.e. Control(Mothers), Control(Fathers), Control(Sisters) and Control(Brothers)) were studied. IR was assessed by homeostatic model assessment (HOMA IR), log HOMA, insulin sensivity index (ISI), the quantitative insulin sensitivity check index (QUICKI) and area under the curve for insulin during the oral glucose tolerance test (AUCI, AUCG) in with normal glucose tolerance (NGT) subjects and controls. Serum adiponectin, resistin, homocysteine and lipid levels were measured. The prevalence of any degree of glucose intolerance was 40% in Mothers(PCOS) and 52% in Fathers(PCOS). In total, six (15%) glucose tolerance disorders were identified in the Control(Mothers) and Control(Fathers) in first degree relatives of control subjects. The first degree relatives of PCOS patients had significantly higher serum fasting insulin, HOMA-IR, Log HOMA and AUCI levels in all subgroups than the control subjects. The control subjects had significantly elevated QUCKI, ISI levels and serum adiponectin levels compared to the first degree relatives of PCOS subjects in all subgroups. The serum Hcy and resistin levels increased significantly in both Fathers(PCOS) and Mothers(PCOS) groups but not Brothers(PCOS) and Sister(PCOS). The results of the present study support the finding that the first degree relatives of PCOS patients carry an increased risk of cardiovascular disease, as do PCOS patients.

Associations among family history of cancer, cancer screening and lifestyle behaviors: a population-based study.

PubMed

Bostean, Georgiana; Crespi, Catherine M; McCarthy, William J

2013-08-01

Some cancers are largely preventable through modification of certain behavioral risk factors and preventive screening, even among those with a family history of cancer. This study examined the associations between (1) family cancer history and cancer screening, (2) family history and cancer preventive lifestyle behaviors, and (3) cancer screening and lifestyle behaviors. Data were from the 2009 California Health Interview Survey (n = 12,603). Outcomes included screening for breast cancer (BC) and colorectal cancer (CRC) and six cancer preventive lifestyle behaviors, based on World Cancer Research Fund recommendations. Multivariate logistic regression analyses, stratified by gender and race-ethnicity, examined associations. Predicted probabilities of cancer screening by family cancer history, race-ethnicity, and sex were computed. Family history of site-specific cancer-CRC for men and women, and BC for women-was associated with higher probability of cancer screening for most groups, especially for CRC, but was largely unrelated to other lifestyle behaviors. In the few cases in which family history was significantly associated with lifestyle-for example, physical activity among White and Latino males, smoking among White and Asian females-individuals with a family history had lower odds of adherence to recommendations than those with no family history. Greater overall adherence to lifestyle recommendations was associated with higher odds of up-to-date CRC screening among White and Asian males, and lower odds among Asian females (no significant association with BC screening); this relationship did not vary by family cancer history. The fact that family history of cancer is not associated with better lifestyle behaviors may reflect shared behavioral risks within families, or the lack of knowledge about how certain lifestyle behaviors impact personal cancer risk. Findings can inform interventions aimed at lifestyle behavioral modification for individuals at increased cancer risk due to family history.

Relationships between Reward Sensitivity, Risk-Taking and Family History of Alcoholism during an Interactive Competitive fMRI Task

PubMed Central

Yarosh, Haley L.; Hyatt, Christopher J.; Meda, Shashwath A.; Jiantonio-Kelly, Rachel; Potenza, Marc N.; Assaf, Michal; D.Pearlson, Godfrey

2014-01-01

Background 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. Methods 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. Results 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. Conclusions 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. PMID:24505424

Surgeon General's Family Health History Initiative

MedlinePlus

... 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 ...

Family history and perceptions about risk and prevention for chronic diseases in primary care: A report from the Family Healthware™ Impact Trial

PubMed Central

Acheson, Louise S.; Wang, Catharine; Zyzanski, Stephen J.; Lynn, Audrey; Ruffin, Mack T.; Gramling, Robert; Rubinstein, Wendy S.; O'Neill, Suzanne M.; Nease, Donald E.

2014-01-01

Purpose To determine whether family medical history as a risk factor for six common diseases is related to patients' perceptions of risk, worry, and control over getting these diseases. Methods We used data from the cluster-randomized, controlled Family Healthware™ Impact Trial (FHITr). At baseline, healthy primary care patients reported their perceptions about coronary heart disease, stroke, diabetes, and breast, ovarian, and colon cancers. Immediately afterward, intervention group participants used Family Healthware™ to record family medical history; this web-based tool stratified familial disease risks. Multivariate and multilevel regression analyses measured the association between familial risk and patient perceptions for each disease, controlling for personal health and demographics. Results For the 2330 participants who used Family Healthware™ immediately after providing baseline data, perceived risk and worry for each disease were strongly associated with family history risk, adjusting for personal risk factors. The magnitude of the effect of family history on perceived risk ranged from 0.35 standard deviation for ovarian cancer to 1.12 standard deviations for colon cancer. Family history was not related to perceived control over developing diseases. Risk perceptions seemed optimistically biased, with 48–79% of participants with increased familial risk for diseases reporting that they were at average risk or below. Conclusions Participants' ratings of their risk for developing common diseases, before feedback on familial risk, parallels but is often lower than their calculated risk based on family history. Having a family history of a disease increases its salience and does not change one's perceived ability to prevent the disease. PMID:20216073

Race and colorectal cancer screening compliance among persons with a family history of cancer

PubMed Central

Laiyemo, Adeyinka O; Thompson, Nicole; Williams, Carla D; Idowu, Kolapo A; Bull-Henry, Kathy; Sherif, Zaki A; Lee, Edward L; Brim, Hassan; Ashktorab, Hassan; Platz, Elizabeth A; Smoot, Duane T

2015-01-01

AIM: To determine compliance to colorectal cancer (CRC) screening guidelines among persons with a family history of any type of cancer and investigate racial differences in screening compliance. METHODS: We used the 2007 Health Information National Trends Survey and identified 1094 (27.4%) respondents (weighted population size = 21959672) without a family history of cancer and 3138 (72.6%) respondents (weighted population size = 58201479) with a family history of cancer who were 50 years and older. We defined compliance with CRC screening as the use of fecal occult blood testing within 1 year, sigmoidoscopy within 5 years, or colonoscopy within 10 years. We compared compliance with CRC screening among those with and without a family member with a history of cancer. RESULTS: Overall, those with a family member with cancer were more likely to be compliant with CRC screening (64.9% vs 55.1%; OR = 1.45; 95%CI: 1.20-1.74). The absolute increase in screening rates associated with family history of cancer was 8.2% among whites. Hispanics had lowest screening rates among those without family history of cancer 41.9% but had highest absolute increase (14.7%) in CRC screening rate when they have a family member with cancer. Blacks had the lowest absolute increase in CRC screening (5.3%) when a family member has a known history of cancer. However, the noted increase in screening rates among blacks and Hispanics when they have a family member with cancer were not higher than whites without a family history of cancer: (54.5% vs 58.7%; OR = 1.16; 95%CI: 0.72-1.88) for blacks and (56.7% vs 58.7%; OR = 1.25; 95%CI: 0.72-2.18) for Hispanics. CONCLUSION: While adults with a family history of any cancer were more likely to be compliant with CRC screening guidelines irrespective of race/ethnicity, blacks and Hispanics with a family history of cancer were less likely to be compliant than whites without a family history. Increased burden from CRC among blacks may be related to poor uptake of screening among high-risk groups. PMID:26672497

Family History Is Important for Your Health

MedlinePlus

... history: • CDC’s Family History Web site for the Public — www.cdc.gov/genomics/famhistory/famhist.htm • U.S. Surgeon General's Family History Initiative — www.hhs.gov/familyhistory/ • National Society ...

Impulsive aggression, delay discounting, and adolescent suicide attempts: effects of current psychotropic medication use and family history of suicidal behavior.

PubMed

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.

Impulsive Aggression, Delay Discounting, and Adolescent Suicide Attempts: Effects of Current Psychotropic Medication Use and Family History of Suicidal Behavior

PubMed Central

Reynolds, Brady; McBee-Strayer, Sandra M.; Sheftall, Arielle H.; Ackerman, John; Stevens, Jack; Mendoza, Kristen; Campo, John V.; Brent, David A.

2015-01-01

Abstract Objective: 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. Methods: 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. Results: 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. Conclusions: 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. PMID:25745870

Association between demyelinating disease and autoimmune rheumatic disease in a pediatric population.

PubMed

Amorim, Ana Luiza M; Cabral, Nadia C; Osaku, Fabiane M; Len, Claudio A; Oliveira, Enedina M L; Terreri, Maria Teresa

Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients. 22 patients younger than 21 years old with MS or NMO diagnosed before the age of 18 years were evaluated regarding epidemiological data, clinical presentation, association with autoimmune diseases, family history of autoimmune diseases, laboratory findings, imaging studies and presence of auto-antibodies. Among the patients studied, there was a prevalence of females (68.1%). The mean age of symptoms onset was 8 years and 9 months and the mean current age was 16 years and 4 months. Two patients (9%) had a history of associated autoimmune rheumatic disease: one case of juvenile dermatomyositis in a patient with NMO and another of systemic lupus erythematosus in a patient with MS. Three patients (13%) had a family history of autoimmunity in first-degree relatives. Antinuclear antibody was found positive in 80% of patients with NMO and 52% of patients with MS. About 15% of antinuclear antibody-positive patients were diagnosed with rheumatologic autoimmune diseases. Among patients with demyelinating diseases diagnosed in childhood included in this study there was a high frequency of antinuclear antibody positivity but a lower association with rheumatologic autoimmune diseases than that observed in studies conducted in adults. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

Segregation of a Latent High Adiposity Phenotype in Families with a History of Type 2 Diabetes Mellitus Implicates Rare Obesity-Susceptibility Genetic Variants with Large Effects in Diabetes-Related Obesity

PubMed Central

Jenkins, Arthur B.; Batterham, Marijka; Samocha-Bonet, Dorit; Tonks, Katherine; Greenfield, Jerry R.; Campbell, Lesley V.

2013-01-01

Background We recently reported significantly greater weight gain in non-diabetic healthy subjects with a 1st degree family history (FH+) of type 2 diabetes mellitus (T2DM) than in a matched control group without such history (FH−) during voluntary overfeeding, implying co-inheritance of susceptibilities to T2DM and obesity. We have estimated the extent and mode of inheritance of susceptibility to increased adiposity in FH+. Methods Normoglycaemic participants were categorised either FH+ (≥1 1st degree relative with T2DM, 50F/30M, age 45±14 (SD) yr) or FH− (71F/51M, age 43±14 yr). Log-transformed anthropometric measurements (height, hip and waist circumferences) and lean, bone and fat mass (Dual Energy X-ray Absorptiometry) data were analysed by rotated Factor Analysis. The age- and gender-adjusted distributions of indices of adiposity in FH+ were assessed by fits to a bimodal model and by relative risk ratios (RR, FH+/FH−) and interpreted in a purely genetic model of FH effects. Results The two orthogonal factors extracted, interpretable as Frame and Adiposity accounted for 80% of the variance in the input data. FH+ was associated with significantly higher Adiposity scores (p<0.01) without affecting Frame scores. Adiposity scores in FH+ conformed to a bimodal normal distribution, consistent with dominant expression of major susceptibility genes with 59% (95% CI 40%, 74%) of individuals under the higher mode. Calculated risk allele frequencies were 0.09 (0.02, 0.23) in FH−, 0.36 (0.22, 0.48) in FH+ and 0.62 (0.36, 0.88) in unobserved T2DM-affected family members. Conclusions The segregation of Adiposity in T2DM-affected families is consistent with dominant expression of rare risk variants with major effects, which are expressed in over half of FH+ and which can account for most T2DM-associated obesity in our population. The calculated risk allele frequency in FH− suggests that rare genetic variants could also account for a substantial fraction of the prevalent obesity in this society. PMID:23950934

Automated extraction of family history information from clinical notes.

PubMed

Bill, Robert; Pakhomov, Serguei; Chen, Elizabeth S; Winden, Tamara J; Carter, Elizabeth W; Melton, Genevieve B

2014-01-01

Despite increased functionality for obtaining family history in a structured format within electronic health record systems, clinical notes often still contain this information. We developed and evaluated an Unstructured Information Management Application (UIMA)-based natural language processing (NLP) module for automated extraction of family history information with functionality for identifying statements, observations (e.g., disease or procedure), relative or side of family with attributes (i.e., vital status, age of diagnosis, certainty, and negation), and predication ("indicator phrases"), the latter of which was used to establish relationships between observations and family member. The family history NLP system demonstrated F-scores of 66.9, 92.4, 82.9, 57.3, 97.7, and 61.9 for detection of family history statements, family member identification, observation identification, negation identification, vital status, and overall extraction of the predications between family members and observations, respectively. While the system performed well for detection of family history statements and predication constituents, further work is needed to improve extraction of certainty and temporal modifications.

Automated Extraction of Family History Information from Clinical Notes

PubMed Central

Bill, Robert; Pakhomov, Serguei; Chen, Elizabeth S.; Winden, Tamara J.; Carter, Elizabeth W.; Melton, Genevieve B.

2014-01-01

Despite increased functionality for obtaining family history in a structured format within electronic health record systems, clinical notes often still contain this information. We developed and evaluated an Unstructured Information Management Application (UIMA)-based natural language processing (NLP) module for automated extraction of family history information with functionality for identifying statements, observations (e.g., disease or procedure), relative or side of family with attributes (i.e., vital status, age of diagnosis, certainty, and negation), and predication (“indicator phrases”), the latter of which was used to establish relationships between observations and family member. The family history NLP system demonstrated F-scores of 66.9, 92.4, 82.9, 57.3, 97.7, and 61.9 for detection of family history statements, family member identification, observation identification, negation identification, vital status, and overall extraction of the predications between family members and observations, respectively. While the system performed well for detection of family history statements and predication constituents, further work is needed to improve extraction of certainty and temporal modifications. PMID:25954443

Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review.

PubMed

Lowery, Jan T; Ahnen, Dennis J; Schroy, Paul C; Hampel, Heather; Baxter, Nancy; Boland, C Richard; Burt, Randall W; Butterly, Lynn; Doerr, Megan; Doroshenk, Mary; Feero, W Gregory; Henrikson, Nora; Ladabaum, Uri; Lieberman, David; McFarland, Elizabeth G; Peterson, Susan K; Raymond, Martha; Samadder, N Jewel; Syngal, Sapna; Weber, Thomas K; Zauber, Ann G; Smith, Robert

2016-09-01

Persons with a family history (FH) of colorectal cancer (CRC) or adenomas that are not due to known hereditary syndromes have an increased risk for CRC. An understanding of these risks, screening recommendations, and screening behaviors can inform strategies for reducing the CRC burden in these families. A comprehensive review of the literature published within the past 10 years has been performed to assess what is known about cancer risk, screening guidelines, adherence and barriers to screening, and effective interventions in persons with an FH of CRC and to identify FH tools used to identify these individuals and inform care. Existing data show that having 1 affected first-degree relative (FDR) increases the CRC risk 2-fold, and the risk increases with multiple affected FDRs and a younger age at diagnosis. There is variability in screening recommendations across consensus guidelines. Screening adherence is <50% and is lower in persons under the age of 50 years. A provider's recommendation, multiple affected relatives, and family encouragement facilitate screening; insufficient collection of FH, low knowledge of guidelines, and poor family communication are important barriers. Effective interventions incorporate strategies for overcoming barriers, but these have not been broadly tested in clinical settings. Four strategies for reducing CRC in persons with familial risk are suggested: 1) improving the collection and utilization of the FH of cancer, 2) establishing a consensus for screening guidelines by FH, 3) enhancing provider-patient knowledge of guidelines and communication about CRC risk, and 4) encouraging survivors to promote screening within their families and partnering with existing screening programs to expand their reach to high-risk groups. Cancer 2016. © 2016 American Cancer Society. Cancer 2016;122:2633-2645. © 2016 American Cancer Society. © 2016 American Cancer Society.

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

PubMed

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.

Relation of family history and reversible risk factors to coronary heart disease prevalence in an Afrikaner community.

PubMed

Rossouw, J E; Thompson, M L; Jooste, P L; Swanepoel, A S; Jordaan, P C

1991-01-01

In a cross-sectional study of an Afrikaner community (n = 2,722 men and n = 3,173 women aged 25-64 years), family history of coronary heart disease (CHD) was associated with an adverse risk factor profile and with prevalent CHD. Men with myocardial infarction (MI) and a family history of CHD had higher total minus high density lipoprotein cholesterol (TC-HDLC) levels than men with MI but no CHD family history. In preliminary multiple regression analyses, family history of CHD appeared to exert its effect partly independently of known risk factors and partly dependently through age, TC minus HDLC, and HDLC. Even though their association with MI was weakened after entering family history into the models, the reversible risk factors (particularly TC minus HDLC, HDLC, and uric acid levels) continued to contribute to CHD. For MI in men, there was an interaction between family history of CHD and TC minus HDLC, to the extent that raised TC minus HDLC levels were adverse only in the presence of a positive CHD family history. The findings suggest coinheritance of high blood cholesterol and increased susceptibility to CHD. If confirmed in prospective studies, the interaction between family history and TC minus HDLC will have implications for cholesterol screening and management.

A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

PubMed Central

An, Seong Soo; Park, Sun Ah; Bagyinszky, Eva; Bae, Sun Oh; Kim, Yoon-Jeong; Im, Ji Young; Park, Kyung Won; Park, Kee Hyung; Kim, Eun-Joo; Jeong, Jee Hyang; Kim, Jong Hun; Han, Hyun Jeong; Choi, Seong Hye; Kim, SangYun

2016-01-01

Early-onset Alzheimer’s disease (EOAD) has distinct clinical characteristics in comparison to late-onset Alzheimer’s disease (LOAD). The genetic contribution is suggested to be more potent in EOAD. However, the frequency of causative mutations in EOAD could be variable depending on studies. Moreover, no mutation screening study has been performed yet employing large population in Korea. Previously, we reported that the rate of family history of dementia in EOAD patients was 18.7% in a nationwide hospital-based cohort study, the Clinical Research Center for Dementia of South Korea (CREDOS) study. This rate is much lower than in other countries and is even comparable to the frequency of LOAD patients in our country. To understand the genetic characteristics of EOAD in Korea, we screened the common Alzheimer’s disease (AD) mutations in the consecutive EOAD subjects from the CREDOS study from April 2012 to February 2014. We checked the sequence of APP (exons 16–17), PSEN1 (exons 3–12), and PSEN2 (exons 3–12) genes. We identified different causative or probable pathogenic AD mutations, PSEN1 T116I, PSEN1 L226F, and PSEN2 V214L, employing 24 EOAD subjects with a family history and 80 without a family history of dementia. PSEN1 T116I case demonstrated autosomal dominant trait of inheritance, with at least 11 affected individuals over 2 generations. However, there was no family history of dementia within first-degree relation in PSEN1 L226F and PSEN2 V214L cases. Approximately, 55.7% of the EOAD subjects had APOE ε4 allele, while none of the mutation-carrying subjects had the allele. The frequency of genetic mutation in this study is lower compared to the studies from other countries. The study design that was based on nationwide cohort, which minimizes selection bias, is thought to be one of the contributors to the lower frequency of genetic mutation. However, the possibility of the greater likeliness of earlier onset of sporadic AD in Korea cannot be excluded. We suggest early AD onset and not carrying APOE ε4 allele are more reliable factors for predicting an induced genetic mutation than the presence of the family history in Korean EOAD population. PMID:28008242

Synergistic effects of family history of hepatocellular carcinoma and hepatitis B virus infection on risk for incident hepatocellular carcinoma.

PubMed

Loomba, Rohit; Liu, Jessica; Yang, Hwai-I; Lee, Mei-Hsuan; Lu, Sheng-Nan; Wang, Li-Yu; Iloeje, Uchenna H; You, San-Lin; Brenner, David; Chen, Chien-Jen

2013-12-01

Little is known about the effects of family history of hepatocellular carcinoma (HCC) on hepatitis B progression or risk of HCC. We examined how family HCC history and presence or stage of hepatitis B virus (HBV) infection affect risk for HCC. We performed a population-based cohort study of 22,472 participants from 7 townships in Taiwan who underwent evaluation for liver disease from 1991 through 1992. Those who received a first diagnosis of HCC from January 1, 1991, to December 31, 2008, were identified from the Taiwanese cancer registry. There were 374 cases of incident HCC over 362,268 person-years of follow-up evaluation. The cumulative risk of HCC in hepatitis B surface antigen (HBsAg)-seronegative patients without a family history of HCC was 0.62%, in those with a family history of HCC the cumulative risk was 0.65%, in HBsAg-seropositive patients without a family history of HCC the cumulative risk was 7.5%, and in HBsAg-seropositive patients with a family history of HCC the cumulative risk was 15.8% (P < .001). The multivariate-adjusted hazard ratio for HBsAg-seropositive individuals with family history, compared with HBsAg-seronegative individuals without a family history of HCC, was 32.33 (95% confidence interval, 20.8-50.3; P < .001). The relative excess risk owing to interaction was 19, the attributable proportion was 0.59, and the synergy index value was 2.54. These findings indicate synergy between family HCC history and HBsAg serostatus. The synergy between these factors remained significant in stratification analyses by HBeAg serostatus and serum level of HBV DNA. Family history of HCC multiplies the risk of HCC at each stage of HBV infection. Patients with a family history of HCC require more intensive management of HBV infection and surveillance for liver cancer. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes: a post hoc analysis of the ADDITION-Denmark randomized controlled trial.

PubMed

Eliraqi, G M; Vistisen, D; Lauritzen, T; Sandbaek, A; Jørgensen, M E; Faerch, K

2015-08-01

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. Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients 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 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, sex, baseline value of the risk factor and general practice (random effect). At baseline, participants with a family history of diabetes were younger and had a 1.1 mmol/mol (0.1%) higher HbA1c concentration at the time of diagnosis than those without a family history of diabetes. Family history of diabetes modified the effect of the intervention on changes in HbA1c levels. In the group receiving routine care, participants with a family history of diabetes experienced an improvement in HbA1c concentration that was 3.3 mmol/mol (0.3%) lower than the improvement found in those without a family history of diabetes after 5 years of follow-up. In the intensive treatment group, however, there was no difference in HbA1c concentrations between participants with and without a family history of diabetes after 5 years of treatment. Intensive treatment of diabetes may partly remove the adverse effects of family history of diabetes on glycaemic control. The effect of this improvement on long-term diabetic complications warrants further investigation. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

Familial aggregation of gout and relative genetic and environmental contributions: a nationwide population study in Taiwan.

PubMed

Kuo, Chang-Fu; Grainge, Matthew J; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Valdes, Ana M; Zhang, Weiya; Doherty, Michael

2015-02-01

To examine familial aggregation of gout and to estimate the heritability and environmental contributions to gout susceptibility in the general population. Using data from the National Health Insurance (NHI) Research Database in Taiwan, we conducted a nationwide cross-sectional study of data collected from 22 643 748 beneficiaries of the NHI in 2004; among them 1 045 059 individuals had physician-diagnosed gout. We estimated relative risks (RR) of gout in individuals with affected first-degree and second-degree relatives and relative contributions of genes (heritability), common environment shared by family members and non-shared environment to gout susceptibility. RRs for gout were significantly higher in individuals with affected first-degree relatives (men, 1.91 (95% CI 1.90 to 1.93); women, 1.97 (95% CI 1.94 to 1.99)) and also in those with affected second-degree relatives (men, 1.27 (95% CI 1.23 to 1.31); women, 1.40 (95% CI 1.35 to 1.46)). RRs (95% CIs) for individuals with an affected twin, sibling, offspring, parent, grandchild, nephew/niece, uncle/aunt and grandparent were 8.02 (6.95 to 9.26), 2.59 (2.54 to 2.63), 1.96 (1.95 to 1.97), 1.93 (1.91 to 1.94), 1.48 (1.43 to 1.53), 1.40 (1.32 to 1.47), 1.31 (1.24 to 1.39), and 1.26 (1.21 to 1.30), respectively. The relative contributions of heritability, common and non-shared environmental factors to phenotypic variance of gout were 35.1, 28.1 and 36.8% in men and 17.0, 18.5 and 64.5% in women, respectively. This population-based study confirms that gout aggregates within families. The risk of gout is higher in people with a family history. Genetic and environmental factors contribute to gout aetiology, and the relative contributions are sexually dimorphic. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Examining the Nature of the Association Between Attention-Deficit/Hyperactivity Disorder and Nicotine Dependence: A Familial Risk Analysis

PubMed Central

Biederman, Joseph; Petty, Carter R.; Hammerness, Paul; Woodworth, K. Yvonne; Faraone, Stephen V.

2013-01-01

Objective The main aim of this study was to use familial risk analysis to examine the association between attention-deficit/hyperactivity disorder (ADHD) and nicotine dependence. Methods Subjects were children with (n = 257) and without (n = 229) ADHD of both sexes ascertained form pediatric and psychiatric referral sources and their first-degree relatives (N = 1627). Results Nicotine dependence in probands increased the risk for nicotine dependence in relatives irrespective of ADHD status. There was no evidence of cosegregation or assortative mating between these disorders. Patterns of familial risk analysis suggest that the association between ADHD and nicotine dependence is most consistent with the hypothesis of independent transmission of these disorders. Conclusions These findings may have important implications for the identification of a subgroup of children with ADHD at high risk for nicotine dependence based on parental history of nicotine dependence. PMID:23461889

Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

PubMed

Catts, Zohra Ali-Khan; Baig, Muhammad Khurram; Milewski, Becky; Keywan, Christine; Guarino, Michael; Petrelli, Nicholas

2016-05-01

Considering the typical rapid progression and high mortality of pancreatic cancer (PC), early detection may lead to an improved outcome. To date, there is no safe, sensitive, and cost-effective screening strategy to detect PC. Currently, screening is focused on individuals at the highest risk of developing PC based on family history. A high-risk individual is defined as having two or more first-degree relatives with PC, or one first- or second-degree relative with PC with a confirmed mutation in a gene associated with PC. The BRCA2 gene is one of the most common genes linked to pancreatic-only cancer families; however, other hereditary cancer syndromes have also been associated with an increased risk for PC. We conducted a retrospective review of pedigrees of families with a pancreatic adenocarcinoma cancer diagnosis held in the statewide Ruth Ann Minner High Risk Family Cancer Registry at the Helen F. Graham Cancer Center and Research Institute, Christiana Care Health System, Newark, DE, USA, from 2002 to 2013. The registry was queried based on how many first-, second-, or third-degree relatives of the proband were affected with PC, genetic testing status, and (if applicable) the results. These data were then categorized into families that meet familial PC (FPC) criteria, defined as two first-degree relatives with PC (FPC families), families that did not meet the FPC definition but had one first-degree relative affected with PC (first-degree families), and probands with PC (probands). Each family was counted only once in the analysis, even if multiple family members were tested. Our analysis revealed that 175 of 597 families fitting any of the above criteria completed genetic testing. Of this cohort, 52 had pathogenic alterations with nine different genes implicated. Overall, 164 of the 175 families that fitted into any of the three categories previously identified had BRCA1 or BRCA2 testing, either by DNA sequencing or next-generation sequencing via a panel test that included BRCA1/2. BRCA1 pathogenic alterations were noted in 17/164 (10.4 %) and BRCA2 pathogenic alterations were noted in 23/164 (14.0 %). FPC families (n = 46) 42/46 of the FPC families underwent BRCA1/2 testing, and 11/42 (26 % [95 % CI 12.89-39.49]) had pathogenic alterations. Specifically, 4/42 = BRCA1 (9.5 %) and 7/42 = BRCA2 (16.7 %). Additionally, 16/46 of the FPC families underwent exclusively Lynch syndrome (LS) testing, and pathogenic mutations in a mismatch repair protein were identified in 2/16. Specifically, 1/16 = MLH1 (6.3 %) and 1/16 = MSH2 (3.6 %). Overall, a genetic mutation within any gene associated with an increased PC risk was found in 28 % of FPC families. First-degree families (n = 106) 99/106 of the families with one first-degree relative underwent BRCA1/2 testing, and 21/99 (21.2 % [95 % CI 13.16-29.27]) had pathogenic alterations. Specifically, 11/99 = BRCA1 (11.1 %) and 10/99 = BRCA2 (10.1 %). 32/99 first-degree families underwent exclusively LS testing, and pathogenic mutations were identified in 4/32. Specifically, 3/32 = MLH1 (9 %) and 1/32 = MSH6 (3 %). 25/99 of the families pursued panel testing, and pathogenic alterations in any gene were identified in 3/25. Specifically, the mutations were found in 1/25 = ATM (4 %), 1/25 = CHEK2 (4 %), and 1/25 = RAD51D (4 %). Affected probands (n = 23) Lastly, all 23 probands affected with PC pursued genetic testing. Of these, 11/23 were found to have pathogenic alterations. All 23 underwent BRCA1/2 testing, and pathogenic alterations were identified in 8/23 (35 % [95 % CI 15.32-54.25]), specifically 2/23 = BRCA1 (9 %), and 6/23 = BRCA2 (26 %). 10/23 patients underwent panel testing and pathogenic alterations were found in 3/10 (30 %) patients, of whom 1/10 = MSH6 (10 %), 1/10 = ATM (10 %), and 1/10 = TP53 (10 %). This study demonstrates that a statewide high-risk family cancer registry is an important instrument in studying the risk of PC in families. Our analysis revealed 14 mutations associated with FPC, among which hereditary breast and ovarian cancer and LS were most prevalent. BRCA1 was found to have the same association with PC as BRCA2, which appears unique to our population. We plan to use our knowledge of these mutations in developing a PC screening program.

Determinants of atherosclerosis in children and adolescents with diabetes type 1.

PubMed

Stanković, Sandra M; Zivić, Saša R; Šaranac, Ljiljana; Cvetković, Vesna; Pešić, Milica; Vasić, Karin; Stanković, Miodrag; Topalović, Aleksandra; Cvetković, Tatjana

2012-01-01

To evaluate the degree of atherosclerosis in children and adolescents with type 1 diabetes and its correlation with risk factors, traditional and other, such as anti-oxidative capacity of circulating blood and level of lipid peroxidation. Forty children and adolescents with type 1 diabetes with mean age 13.7 years were compared with 20 age- and sex-matched healthy control subjects. Association of carotid artery intima-media thickness (cIMT) with different risk factors measured in children with type 1 diabetes was evaluated. Mean carotid IMT was higher in subjects with diabetes (p 〈 0.01) and was strongly associated with total cholesterol with an odds ratio of 4.08 (p = 0.016), LDL-cholesterol with an odds ratio of 2.78 (p = 0.037), length of disease with an odds ratio of 1.87 (p = 0.007) and positive family history (first- and second-degree relatives) of diabetes and early CVD (heart attack and/or stroke before the age of 60 years) with an odds ratio of 6.8 (p = 0.007). We found significantly increased cIMT in the diabetic patients compared to the healthy control subjects. Risk factors for the development of atherosclerosis included higher total and LDL-cholesterol, higher systolic blood pressure, positive family history of diabetes and early CVD and longer diabetes duration. In spite of the documented increased oxidative stress, we failed to establish a correlation between the oxidative stress parameters and cIMT values.

A case-control study of rheumatoid arthritis revealed abdominal obesity and environmental risk factor interactions in northern China.

PubMed

Fu, Lingyu; Zhang, Jianming; Jin, Lei; Zhang, Yao; Cui, Saisai; Chen, Meng

2018-03-01

The aim of this study was to evaluate new and previously hypothesized environmental risk factors and their interaction with rheumatoid arthritis (RA). Four hundred patients recently diagnosed with RA and 400 controls frequency-matched by gender and birth year using Propensity Score Matching (PSM) were selected from northern China. Investigation was performed using self-reported data from interviewer-administered surveys. Associations between exposure variables and risk of RA were evaluated using multifactor non-conditional logistic regression. It showed that damp localities, draft indoor, abdominal obesity (AO), and family history of RA among first-degree relatives were independent risk factors and drinking of milk was independent protective factors for RA. Besides these risk factors, in women, infrequent delivery times, early age at menopause, and late age at menarche were also independent risk factors for RA. Both the additive model and the multiplication model suggested that there was an interaction relationship between AO and damp localities (p < .001), and only the additive model suggested that there was interaction relationship between AO and no milk drinking (p < .001) in our study population. In women, there was interaction relationship between AO and damp localities (p < .001) and between AO and age at menopause (p < .001). In northern China, damp localities, draft indoor, AO, family history of RA among first-degree relatives, and no milk drinking may be important risk factors of RA patients.

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

PubMed

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 sensation seeking. Our findings support classifying pathological gambling as a behavioural addiction in the ICD-11. This decision will have a significant impact on the approaches available for prevention (e.g. age limits) and treatment. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Predictive factors of gestational diabetes in pregnancies following assisted reproductive technology: a nested case-control study.

PubMed

Kouhkan, Azam; Khamseh, Mohammad E; Moini, Ashraf; Pirjani, Reihaneh; Valojerdi, Ameneh Ebrahim; Arabipoor, Arezoo; Hosseini, Roya; Baradaran, Hamid Reza

2018-05-05

To evaluate predictive factors for gestational diabetes mellitus (GDM) in singleton pregnancy following assisted reproductive technology (ART). This nested case-control study was performed during October 2016-June 2017. Pregnant women who conceived following ART procedures referred to infertility clinic were selected and categorized into GDM and non-GDM based on ADA/IAPDSG criteria. The study variables including age, educational status, first-degree family history of chronic diseases, systolic and diastolic blood pressure, previous obstetric and perinatal outcomes, infertility history, and ART cycle characteristics were collected from medical records. Prediction model to develop GDM was employed by binary logistic regression analysis after adjustment for age and body mass index, family history of diabetes, and gravidity. In total, 270 women with singleton pregnancies (consisted of 135 GDM and 135 non-GDM women) conceived were studied. According to the final model, significant predictors of GDM were history of polycystic ovarian syndrome (PCOS), previous ovarian hyper-stimulation syndrome (OHSS) risk and progesterone injections. Administration of injectable progesterone during the first 10-12 weeks of pregnancy was associated with an approximately twofold increased risk of developing GDM [odds ratio (OR) 2.28, 95% confidence interval (CI) 1.27-4.09)] compared to vaginal progesterone. In addition, the regression analysis revealed that previous OHSS risk (OR 2.40, 95% CI 1.34-4.31) and history of PCOS (OR 2.76, 95% CI 1.26-6.06) were other most important predictors of GDM. The route of progesterone administration, previous OHSS risk and history of PCOS seem to be putative risk factors for GDM in women conceived by ART.

Association of Family History of ESRD, Prevalent Albuminuria, and Reduced GFR With Incident ESRD

PubMed Central

McClellan, William M.; Warnock, David G.; Judd, Suzanne; Muntner, Paul; Patzer, Rachel E.; Bradbury, Brian D.; McClure, Leslie A.; Newsome, Britt B.; Howard, George

2013-01-01

Background The contribution of albuminuria to the increased risk of incident end-stage renal disease (ESRD) in individuals with a family history of ESRD has not been well studied. Study Design Prospective cohort study. Study Setting & Participants We analyzed data for family history of ESRD collected from 19,409 participants of the Renal REGARDS (Reasons for Geographic and Racial Differences in Stroke) cohort study. Predictor Family history of ESRD was ascertained by asking “Has anyone in your immediate family ever been told that he or she had kidney failure? This would be someone who is on or had been on dialysis or someone who had a kidney transplant.” Study Outcomes Incidence rate for ESRD. Measurements Morning urine albumin-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR). Incident cases of ESRD were identified through the US Renal Data System. Results A family history of ESRD was reported by 11.1% of participants. Mean eGFRs for those with and without a family history of ESRD were 87.5 ± 22.2 (SD) and 86.5 ± 19.3 mL/min/1.73 m2, respectively (P = 0.05) and the respective geometric mean ACRs were 12.2 and 9.7 mg/g (P < 0.001). ESRD incidence rates for those with and without a family history of ESRD were 244.3 and 106.1/100,000 person-years, respectively. After adjusting for age, sex, and race, the ESRD HR for those with versus those without a family history of ESRD was 2.13 (95% CI, 1.18-3.83). Adjustment for comorbid conditions and socioeconomic status attenuated this association (HR, 1.82; 95% CI, 1.00-3.28), and further adjustment for baseline eGFR and ACR completely attenuated the association between family history of ESRD and incident ESRD (HR, 1.12; 95% CI, 0.69-1.80). Limitations The report of a family history of ESRD was not validated. Conclusion Family history of ESRD is common in older Americans and the increased risk of ESRD associated with a family history reflects lower GFR, higher albuminuria, and comorbid conditions. PMID:22078058

Family history assessment of personality disorders: II. Association with measures of psychosocial functioning in direct evaluations with relatives.

PubMed

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.

What the physician needs to know about Lynch syndrome: an update.

PubMed

Lynch, Henry T; Lynch, Jane F

2005-04-01

The Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), is the most common form of hereditary colorectal cancer (CRC), accounting for 2% to 7% of all CRC cases. The next most common hereditary CRC syndrome is familial adenomatous polyposis (FAP), which accounts for less than 1% of all CRC. Lynch syndrome is of crucial clinical importance due to the fact that it predicts the lifetime risk for CRC and a litany of extra-CRC cancers (of the endometrium, ovary, stomach, small bowel, hepatobiliary tract, upper uroepithelial tract, and brain) through assessment of a well-orchestrated family history. A Lynch syndrome diagnosis is almost certain when a mutation in a mismatch repair gene--most commonly MSH2, MLHI, or, to a lesser degree, MSH6--is identified. Once diagnosed, the potential for significant reduction in cancer-related morbidity and mortality through highly targeted surveillance may be profound. Particularly important is colonoscopy initiated at an early age (ie, 25 years) and repeated annually due to accelerated carcinogenesis. In women, endometrial aspiration biopsy and transvaginal ultrasound are important given the extraordinarily high risk for endometrial and ovarian carcinoma. These cancer control strategies have a major impact on at-risk family members once they have been counseled and educated thoroughly about Lynch syndrome's natural history and their own hereditary cancer risk.

Early life adversity reduces stress reactivity and enhances impulsive behavior: Implications for health behaviors

PubMed Central

Lovallo, William R.

2012-01-01

Altered reactivity to stress, either in the direction of exaggerated reactivity or diminished reactivity, may signal a dysregulation of systems intended to maintain homeostasis and a state of good health. Evidence has accumulated that diminished reactivity to psychosocial stress may signal poor health outcomes. One source of diminished cortisol and autonomic reactivity is the experience of adverse rearing during childhood and adolescence. The Oklahoma Family Health Patterns Project has examined a cohort of 426 healthy young adults with and without a family history of alcoholism. Regardless of family history, persons who had experienced high degrees of adversity prior to age 16 had a constellation of changes including reduced cortisol and heart rate reactivity, diminished cognitive capacity, and unstable regulation of affect, leading to behavioral impulsivity and antisocial tendencies. We present a model whereby this constellation of physiological, cognitive, and affective tendencies is consistent with altered central dopaminergic activity leading to changes in brain function that may foster impulsive and risky behaviors. These in turn may promote greater use of alcohol other drugs along with adopting poor health behaviors. This model provides a pathway from early life adversity to low stress reactivity that forms a basis for risky behaviors and poor health outcomes. PMID:23085387

The Impact of Family History on the Clinical Features of Huntington's Disease.

PubMed

Kringlen, Gabe; Kinsley, Lisa; Aufox, Sharon; Rouleau, Gerald; Bega, Danny

2017-01-01

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. In most cases the disease is inherited from a parent, although a considerable number of affected persons have no reported family history of the disease. While CAG repeat length is negatively correlated with age of symptom onset, variability exists suggesting that other variables may influence symptom onset. The objective of this study is to determine whether awareness of a family history of HD has an impact on symptom onset and disease manifestations. Data were obtained from Enroll-HD to compare subjects with a family history of HD to subjects without on various key clinical outcomes. In addition, multiple regressions were performed to investigate the impact of family history on the age at onset of depression and motor symptoms. 4,285 mutation positive subjects were included in the analysis, of which 4.81% had a negative family history. Controlling for CAG repeat length, a positive family history predicted an onset of depression 11.438 years earlier and an onset of motor symptoms 6.681 years earlier when compared to having a negative family history. Subjects with a positive family history were more likely to report behavioral manifestations as the initial major symptom of HD (38.6% vs. 29.6%, p = 0.023), and were more likely to report previous suicidal ideation/attempts (26.2% vs. 20.3%, p = 0.046). A positive family history of HD appears to be associated with an earlier onset of depression and overall disease manifestations. Implications regarding the role of genetic versus environmental contributions to symptom onset in HD are discussed.

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

PubMed

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.

Family history of gastric cancer is associated with the risk of colorectal neoplasia in Korean population.

PubMed

Jung, Yoon Suk; Kim, Nam Hee; Yang, Hyo-Joon; Park, Soo-Kyung; Park, Jung Ho; Park, Dong Il; Sohn, Chong Il

2017-10-01

Family history of cancers at different sites except for colorectum has not been evaluated as a risk factor for colorectal neoplasia (CRN). To investigate CRN risk according to family history of cancers at 12 different sites, including stomach and colorectum. A cross-sectional study was performed on 139,497 asymptomatic Koreans who underwent colonoscopy as part of a health check-up. The mean age of the study population was 41.6 and the prevalence of CRN was 16.3%. Multivariate analyses revealed that family histories of CRC (adjusted odds ratio; confidence interval, 1.26; 1.17-1.35) and gastric cancer (1.07; 1.01-1.13) were independent risk factors for CRN. Notably, the risk of CRN increased even more for participants with family histories of both CRC and gastric cancer (1.38; 1.12-1.70). Family history of CRC was associated with risk of CRN in participants aged both <50 and ≥50 years, whereas family history of gastric cancer was associated with risk of CRN in participants aged <50 years (1.22; 1.14-1.30), but not in participants aged ≥50 years (1.08; 0.99-1.18). Family history of gastric cancer was an independent risk factor for CRN, especially in those aged <50years. Persons with family histories of gastric cancer and CRC, especially those with family histories of both, may need to begin colonoscopy earlier. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Improved performance of epidemiologic and genetic risk models for rheumatoid arthritis serologic phenotypes using family history

PubMed Central

Sparks, Jeffrey A.; Chen, Chia-Yen; Jiang, Xia; Askling, Johan; Hiraki, Linda T.; Malspeis, Susan; Klareskog, Lars; Alfredsson, Lars; Costenbader, Karen H.; Karlson, Elizabeth W.

2014-01-01

Objective To develop and validate rheumatoid arthritis (RA) risk models based on family history, epidemiologic factors, and known genetic risk factors. Methods We developed and validated models for RA based on known RA risk factors, among women in two cohorts: the Nurses’ Health Study (NHS, 381 RA cases and 410 controls) and the Epidemiological Investigation of RA (EIRA, 1244 RA cases and 971 controls). Model discrimination was evaluated using the area under the receiver operating characteristic curve (AUC) in logistic regression models for the study population and for those with positive family history. The joint effect of family history with genetics, smoking, and body mass index (BMI) was evaluated using logistic regression models to estimate odds ratios (OR) for RA. Results The complete model including family history, epidemiologic risk factors, and genetics demonstrated AUCs of 0.74 for seropositive RA in NHS and 0.77 for anti-citrullinated protein antibody (ACPA)-positive RA in EIRA. Among women with positive family history, discrimination was excellent for complete models for seropositive RA in NHS (AUC 0.82) and ACPA-positive RA in EIRA (AUC 0.83). Positive family history, high genetic susceptibility, smoking, and increased BMI had an OR of 21.73 for ACPA-positive RA. Conclusions We developed models for seropositive and seronegative RA phenotypes based on family history, epidemiologic and genetic factors. Among those with positive family history, models utilizing epidemiologic and genetic factors were highly discriminatory for seropositive and seronegative RA. Assessing epidemiological and genetic factors among those with positive family history may identify individuals suitable for RA prevention strategies. PMID:24685909

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.

PubMed

Meiser, B; Quinn, V F; Gleeson, M; Kirk, J; Tucker, K M; Rahman, B; Saunders, C; Watts, K J; Peate, M; Geelhoed, E; Barlow-Stewart, K; Field, M; Harris, M; Antill, Y C; Mitchell, G

2016-11-01

Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

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

PubMed

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.

Family history of cancer and the risk of bladder cancer: A case-control study from Italy.

PubMed

Turati, Federica; Bosetti, Cristina; Polesel, Jerry; Serraino, Diego; Montella, Maurizio; Libra, Massimo; Facchini, Gaetano; Ferraroni, Monica; Tavani, Alessandra; La Vecchia, Carlo; Negri, Eva

2017-06-01

A family history of bladder cancer has been associated with the risk of bladder cancer, but quantification of the excess risk in different populations is still a relevant issue. Further, the role of a family history of other cancers on the risk of bladder cancer remains unclear. We analyzed data from an Italian case-control study, including 690 bladder cancer cases and 665 hospital controls. Odds ratios (ORs) were estimated through unconditional logistic regression models, adjusted for sex, age, study center, year of interview and further for education, smoking and sibling's number. The OR for family history of bladder cancer was 2.13 (95% confidence intervals (95%CIs) 1.02-4.49) from the model with partial adjustment, and 1.99 (95%CI 0.91-4.32) after additional adjustment for smoking and siblings' number, based on 23 cases (3.3%) and 11 controls (1.7%) with a family history of bladder cancer. The fully adjusted OR was 3.77 when the relative was diagnosed at age below 65years. Smokers with a family history of bladder cancer had a four-fold increased risk compared to non-smokers without a family history. Bladder cancer risk was significantly increased among subjects with a family history of hemolymphopoietic cancers (OR=2.97, 95%CI 1.35-6.55). Family history of cancer at other sites showed no significant association with bladder cancer risk. This study confirms an approximately two-fold increased risk of bladder cancer for family history of bladder cancer, and indicates a possible familial clustering of bladder cancer with cancers of the hemolymphopoietic system. Copyright © 2017 Elsevier Ltd. All rights reserved.

Family history of chronic disease and meeting public health guidelines for physical activity: the cooper center longitudinal study.

PubMed

Shuval, Kerem; Chiu, Chung-Yi; Barlow, Carolyn E; Gabriel, Kelley Pettee; Kendzor, Darla E; Businelle, Michael S; Skinner, Celette Sugg; Balasubramanian, Bijal A

2013-06-01

We aimed to assess whether a family history of coronary heart disease, diabetes, or cancer is linked to meeting public health guidelines for health-promoting physical activity. To achieve this objective, we analyzed data on 29,513 adults who came to the Cooper Clinic (Dallas, Texas) between January 1, 1990, and December 31, 2010, for a preventive medicine visit. Patients completed a comprehensive medical survey including information on family medical history, physical activity, and other lifestyle behaviors. Bivariate and multivariate logistic regression were used to examine the relationship between having a family history of chronic disease and meeting physical activity guidelines. The results indicated that individuals with a family history of disease had reduced odds for meeting or exceeding physical activity guidelines. For example, participants with a family history of 3 diseases were 36% less likely to meet or exceed physical activity guidelines than their counterparts without a family history of disease (odds ratio, 0.64; 95% CI, 0.58-0.72), while controlling for covariates. Among this large sample of adults, those with a family history of chronic disease were less inclined to regularly engage in physical activity. Thus, targeted programs encouraging adoption and maintenance of health-promoting physical activity might be warranted, specifically targeting individuals with familial history of disease. Copyright © 2013 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

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

PubMed Central

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

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

PubMed

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.

[Insight in schizophrenia: relationship to family history, and positive and negative symptoms].

PubMed

Danki, Demet; Dilbaz, Nesrin; Okay, Ihsan Tuncer; Telci, Sükran

2007-01-01

To determine the level of insight among patients with schizophrenia and to compare sociodemographic and clinical features. The study included 66 patients with schizophrenia based on DSM-IV criteria. A semi-structured sociodemographic instrument, the Positive and Negative Syndrome Scale (PANSS), and the Schedule for Assessing the Three Components of Insight (SATCI) were used for the study. Family history was significantly related to low-level insight in schizophrenic patients. Positive symptom scores in patients with a family history of schizophrenia were significantly higher than in patients without such a family history. Positive and general psychopathological symptoms were inversely related to level of insight in patients with schizophrenia. There was no significant relationship between the negative symptoms scores and level of insight. Family history of schizophrenia in schizophrenic patients was significantly related to low-level insight. Insight in the schizophrenic patients was affected by biological, psychological, and psychosociological factors. Family history of schizophrenia was one of these factors, which may affect the level of insight in numerous ways. Studies of patient family position and its relationship to insight have generally explored the effects of family situation on schizophrenia and insight, but not family history and its relationship to insight. In this study positive symptom severity was higher in patients with a family history of schizophrenia than in those without such a history. There was a positive relationship between low-level insight and both high positive and general psychopathology symptom levels in patients with schizophrenia.

Test-retest resting-state fMRI in healthy elderly persons with a family history of Alzheimer's disease.

PubMed

Orban, Pierre; Madjar, Cécile; Savard, Mélissa; Dansereau, Christian; Tam, Angela; Das, Samir; Evans, Alan C; Rosa-Neto, Pedro; Breitner, John C S; Bellec, Pierre

2015-01-01

We present a test-retest dataset of resting-state fMRI data obtained in 80 cognitively normal elderly volunteers enrolled in the "Pre-symptomatic Evaluation of Novel or Experimental Treatments for Alzheimer's Disease" (PREVENT-AD) Cohort. Subjects with a family history of Alzheimer's disease in first-degree relatives were recruited as part of an on-going double blind randomized clinical trial of Naproxen or placebo. Two pairs of scans were acquired ~3 months apart, allowing the assessment of both intra- and inter-session reliability, with the possible caveat of treatment effects as a source of inter-session variation. Using the NeuroImaging Analysis Kit (NIAK), we report on the standard quality of co-registration and motion parameters of the data, and assess their validity based on the spatial distribution of seed-based connectivity maps as well as intra- and inter-session reliability metrics in the default-mode network. This resource, released publicly as sample UM1 of the Consortium for Reliability and Reproducibility (CoRR), will benefit future studies focusing on the preclinical period preceding the appearance of dementia in Alzheimer's disease.

Amygdala abnormalities in first-degree relatives of individuals with schizophrenia unmasked by benzodiazepine challenge

PubMed Central

Wolf, Daniel H.; Satterthwaite, Theodore D.; Loughead, James; Pinkham, Amy; Overton, Eve; Elliott, Mark A.; Dent, Gersham W.; Smith, Mark A.; Gur, Ruben C.; Gur, Raquel E.

2014-01-01

Rationale Impaired emotion processing in schizophrenia predicts broader social dysfunction and has been related to negative symptom severity and amygdala dysfunction. Pharmacological modulation of emotion-processing deficits and related neural abnormalities may provide useful phenotypes for pathophysiological investigation. Objectives We used an acute benzodiazepine challenge to identify and modulate potential emotion-processing abnormalities in 20 unaffected first-degree relatives of individuals with schizophrenia, compared to 25 control subjects without a family history of psychosis. Methods An oral 1mg dose of the short-acting anxiolytic benzodiazepine alprazolam was administered in a balanced crossover placebo-controlled double-blind design, preceding identical 3T fMRI sessions approximately 1 week apart. Primary outcomes included fMRI activity in amygdala and related regions during two facial emotion-processing tasks: emotion identification and emotion memory. Results Family members exhibited abnormally strong alprazolam-induced reduction in amygdala and hippocampus activation during emotion identification, compared to equal reduction in both groups for the emotion memory task. Conclusions GABAergic modulation with alprazolam produced differential responses in family members vs. controls, perhaps by unmasking underlying amygdalar and/or GABAergic abnormalities. Such pharmacological fMRI paradigms could prove useful for developing drugs targeting specific neural circuits to treat or prevent schizophrenia. PMID:21603892

Steeper discounting of delayed rewards in schizophrenia but not first-degree relatives.

PubMed

Yu, Linda Q; Lee, Sangil; Katchmar, Natalie; Satterthwaite, Theodore D; Kable, Joseph W; Wolf, Daniel H

2017-06-01

Excessive discounting of future rewards has been related to a variety of risky behaviors and adverse clinical conditions. Prior work examining delay discounting in schizophrenia suggests an elevated discount rate. However, it remains uncertain whether this reflects the disease process itself or an underlying genetic vulnerability, whether it is selective for delay discounting or reflects pervasive changes in decision-making, and whether it is driven by specific clinical dimensions such as cognitive impairment. Here we investigated delay discounting, as well as loss aversion and risk aversion, in three groups: schizophrenia (SZ), unaffected first-degree family members (FM), and controls without a family history of psychosis (NC). SZ had elevated discounting, without changes in loss aversion or risk aversion. Contrary to expectations, the FM group did not show an intermediate phenotype in discounting. Higher discount rates correlated with lower cognitive performance on verbal reasoning, but this did not explain elevated discount rates in SZ. Group differences were driven primarily by the non-smoking majority of the sample. This study provides further evidence for elevated discounting in schizophrenia, and demonstrates that steeper discounting is not necessarily associated with familial risk, cannot be wholly accounted for by cognitive deficits, and is not attributable to smoking-related impulsivity. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

PubMed Central

Ostrom, Quinn T.; McCulloh, Christopher; Chen, Yanwen; Devine, Karen; Wolinsky, Yingli; Davitkov, Perica; Robbins, Sarah; Cherukuri, Rajesh; Patel, Ashokkumar; Gupta, Rajnish; Cohen, Mark; Barrios, Jaime Vengoechea; Brewer, Cathy; Schilero, Cathy; Smolenski, Kathy; McGraw, Mary; Denk, Barbara; Naska, Theresa; Laube, Frances; Steele, Ruth; Greene, Dale; Kastl, Alison; Bell, Susan; Aziz, Dina; Chiocca, E. A.; McPherson, Christopher; Warnick, Ronald; Barnett, Gene H.; Sloan, Andrew E.; Barnholtz-Sloan, Jill S.

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. PMID:22649779

Identification of Kininogen 1 as a Serum Protein Marker of Colorectal Adenoma in Patients with a Family History of Colorectal Cancer.

PubMed

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.

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

PubMed

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.

Hemophilia Diagnosis

MedlinePlus

... of hemophilia and the severity. Families With a History of Hemophilia Any family history of bleeding, such ... inheritance pattern for hemophilia . Families With No Previous History of Hemophilia About one-third of babies who ...

Lessons learned from family history in ocular genetics.

PubMed

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.

Childhood constipation is not associated with characteristic fingerprint patterns

PubMed Central

Jackson, C; Anderson, B; Jaffray, B

2003-01-01

Background: It has been suggested that there is an association between simple arch fingerprint patterns and severe childhood constipation. If real, this association might be useful to predict which children have a poor prognosis. Aim: To see how many severely constipated children have simple arches, compared to non-constipated controls and their first degree relatives. Methods: Fingerprints were classified by two blinded assessors in 30 children requiring surgery for refractory constipation, and 30 children with appendicitis, and the first degree relatives of both groups. Colonic transit times and clinical outcomes were also evaluated among constipated children. Results: At least one simple arch was found in similar numbers of constipated children (13%) and their families (16%), and control children (7%) and their families (13%). Arch positivity was commoner among relatives of arch positive (6/6) than arch negative children (14/54), regardless of bowel history. Arch positivity did not identify children with prolonged transit times, nor those who required colectomy. Conclusions: Fingerprint patterns are not associated with severe childhood constipation, do not aid their management, and do not support a genetic aetiology for this problem. PMID:14670772

Increased Mortality Exposure within the Family Rather than Individual Mortality Experiences Triggers Faster Life-History Strategies in Historic Human Populations

PubMed Central

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. PMID:24421897

Increased mortality exposure within the family rather than individual mortality experiences triggers faster life-history strategies in historic human populations.

PubMed

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.

My Family Health Portrait, A tool from the Surgeon General | NIH MedlinePlus the Magazine

MedlinePlus

... is it important to know my family medical history? Your family medical history is a record of health information about you and three generations of close relatives. Family history can be an important risk factor for problems ...

Limited family structure and BRCA gene mutation status in single cases of breast cancer.

PubMed

Weitzel, Jeffrey N; Lagos, Veronica I; Cullinane, Carey A; Gambol, Patricia J; Culver, Julie O; Blazer, Kathleen R; Palomares, Melanie R; Lowstuter, Katrina J; MacDonald, Deborah J

2007-06-20

An autosomal dominant pattern of hereditary breast cancer may be masked by small family size or transmission through males given sex-limited expression. To determine if BRCA gene mutations are more prevalent among single cases of early onset breast cancer in families with limited vs adequate family structure than would be predicted by currently available probability models. A total of 1543 women seen at US high-risk clinics for genetic cancer risk assessment and BRCA gene testing were enrolled in a prospective registry study between April 1997 and February 2007. Three hundred six of these women had breast cancer before age 50 years and no first- or second-degree relatives with breast or ovarian cancers. The main outcome measure was whether family structure, assessed from multigenerational pedigrees, predicts BRCA gene mutation status. Limited family structure was defined as fewer than 2 first- or second-degree female relatives surviving beyond age 45 years in either lineage. Family structure effect and mutation probability by the Couch, Myriad, and BRCAPRO models were assessed with stepwise multiple logistic regression. Model sensitivity and specificity were determined and receiver operating characteristic curves were generated. Family structure was limited in 153 cases (50%). BRCA gene mutations were detected in 13.7% of participants with limited vs 5.2% with adequate family structure. Family structure was a significant predictor of mutation status (odds ratio, 2.8; 95% confidence interval, 1.19-6.73; P = .02). Although none of the models performed well, receiver operating characteristic analysis indicated that modification of BRCAPRO output by a corrective probability index accounting for family structure was the most accurate BRCA gene mutation status predictor (area under the curve, 0.72; 95% confidence interval, 0.63-0.81; P<.001) for single cases of breast cancer. Family structure can affect the accuracy of mutation probability models. Genetic testing guidelines may need to be more inclusive for single cases of breast cancer when the family structure is limited and probability models need to be recreated using limited family history as an actual variable.

Results of Screening in Familial Non-Medullary Thyroid Cancer.

PubMed

Klubo-Gwiezdzinska, Joanna; Yang, Lily; Merkel, Roxanne; Patel, Dhaval; Nilubol, Naris; Merino, Maria J; Skarulis, Monica; Sadowski, Samira M; Kebebew, Electron

2017-08-01

Although a family history of thyroid cancer is one of the main risk factors for thyroid cancer, the benefit of screening individuals with a family history of thyroid cancer is not known. A prospective cohort study was performed with yearly screening using neck ultrasound and fine-needle aspiration biopsy of thyroid nodule(s) >0.5 cm in at-risk individuals whose relatives were diagnosed with familial non-medullary thyroid cancer (FNMTC). The eligibility criteria were the presence of thyroid cancer in two or more first-degree relatives and being older than seven years of age. Twenty-five kindred were enrolled in the study (12 families with two members affected, and 13 with three or more members affected at enrollment). Thyroid cancer was detected by screening in 4.6% (2/43) of at-risk individuals from families with two members affected, and in 22.7% (15/66) of at-risk members from families with three or more patients affected (p = 0.01). FNMTC detected by screening was characterized by a smaller tumor size (0.7 ± 0.5 cm vs. 1.5 ± 1.1 cm; p = 0.006), a lower rate of central neck lymph node metastases (17.6% vs. 51.1%; p = 0.02), less extensive surgery (hemithyroidectomy 23.5% vs. 0%; p = 0.002), and a lower rate of radioactive iodine therapy (23.5% vs. 79%; p < 0.001) compared to those affected at enrollment. Screening of at-risk family members resulted in earlier detection of low-risk FNMTC and was associated with a less aggressive initial treatment. Screening with thyroid ultrasound should be considered in kindred with three or more family members affected by FNMTC. Since active screening might be associated with the risk of overtreatment, it should be implemented with caution, specifically in elderly individuals.

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

PubMed

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.

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

ERIC Educational Resources Information Center

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…

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.

PubMed

van der Merwe, Pieter Du Toit; Rensburg, Megan A; Haylett, William L; Bardien, Soraya; Davids, M Razeen

2017-01-26

Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. The affected individuals and two unaffected first degree relatives were enrolled into the study. Phenotypes were evaluated through history, physical examination and biochemical analysis of blood and urine. Mutation screening was performed by sequencing of SLC12A3, and determining the allele frequencies of the sequence variants found in this family in 117 ethnically matched controls. The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. All affected individuals demonstrated hypokalaemia with renal potassium wasting. Genetic analysis revealed that the pseudo-dominant pattern of inheritance was due to compound heterozygosity with two novel mutations: a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16. These variants were present in the five affected individuals, but only one variant each in the unaffected family members. Neither variant was found in any of the controls. The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.

A new SETX mutation producing AOA2 in two siblings.

PubMed

Datta, Neil; Hohler, Anna

2013-09-01

In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). The patients had a detailed neurological history and examination performed. Radiological imaging was obtained and genetic analysis was obtained. Both siblings demonstrated healthy and normal growth until adolescence. At that time, slowed speech, hypophonia, dysarthria, extraocular muscle dysfunction and some mild choreiform movements began to appear. Family history included some movement disorder difficulties in second degree relatives. The diagnosis of AOA2 was confirmed by genetic testing. We describe a new SETX gene mutation, which when combined with a recognized SETX mutation results in AOA2. The clinical, radiographic and ancillary testing are described.

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

PubMed

Joshi, Aditi; Ringman, John M; Lee, Albert S; Juarez, Kevin O; Mendez, Mario F

2012-10-01

Although familial Alzheimer's disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder. Recent guidelines recommend testing for genes causing FAD only in those EAD patients with two first-degree relatives. However, some patients with FAD may lack a known family history or other indications for suspecting FAD but might nonetheless be carriers of FAD mutations. The study was aimed to identify clinical features that distinguish FAD from non-familial EAD (NF-EAD). A retrospective review of a university-based cohort of 32 FAD patients with PSEN1-related AD and 81 with NF-EAD was conducted. The PSEN1 patients, compared to the NF-EAD patients, had an earlier age of disease onset (41.8 ± 5.2 vs. 55.9 ± 4.8 years) and, at initial assessment, a longer disease duration (5.1 ± 3.4 vs. 3.3 ± 2.6 years) and lower MMSE scores (10.74 ± 8.0 vs. 20.95 ± 5.8). Patients with NF-EAD were more likely to present with non-memory deficits, particularly visuospatial symptoms, than were FAD patients. When age, disease duration, and MMSE scores were controlled in a logistical regression model, FAD patients were more likely to have significant headaches, myoclonus, gait abnormality, and pseudobulbar affect than those with NF-EAD. In addition to a much younger age of onset, FAD patients with PSEN1 mutations differed from those with NF-EAD by a history of headaches and pseudobulbar affect, as well as myoclonus and gait abnormality on examination. These may represent differences in pathophysiology between FAD and NF-EAD and in some contexts such findings should lead to genetic counseling and appropriate recommendations for genetic testing for FAD.

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer’s disease

PubMed Central

Ringman, John M.; Lee, Albert S.; Juarez, Kevin O.; Mendez, Mario F.

2012-01-01

Although familial Alzheimer’s disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder. Recent guidelines recommend testing for genes causing FAD only in those EAD patients with two first-degree relatives. However, some patients with FAD may lack a known family history or other indications for suspecting FAD but might nonetheless be carriers of FAD mutations. The study was aimed to identify clinical features that distinguish FAD from non-familial EAD (NF-EAD). A retrospective review of a university-based cohort of 32 FAD patients with PSEN1-related AD and 81 with NF-EAD was conducted. The PSEN1 patients, compared to the NF-EAD patients, had an earlier age of disease onset (41.8 ± 5.2 vs. 55.9 ± 4.8 years) and, at initial assessment, a longer disease duration (5.1 ± 3.4 vs. 3.3 ± 2.6 years) and lower MMSE scores (10.74 ± 8.0 vs. 20.95 ± 5.8). Patients with NF-EAD were more likely to present with non-memory deficits, particularly visuospatial symptoms, than were FAD patients. When age, disease duration, and MMSE scores were controlled in a logistical regression model, FAD patients were more likely to have significant headaches, myoclonus, gait abnormality, and pseudobulbar affect than those with NF-EAD. In addition to a much younger age of onset, FAD patients with PSEN1 mutations differed from those with NF-EAD by a history of headaches and pseudobulbar affect, as well as myoclonus and gait abnormality on examination. These may represent differences in pathophysiology between FAD and NF-EAD and in some contexts such findings should lead to genetic counseling and appropriate recommendations for genetic testing for FAD. PMID:22460587

Improved performance of epidemiologic and genetic risk models for rheumatoid arthritis serologic phenotypes using family history.

PubMed

Sparks, Jeffrey A; Chen, Chia-Yen; Jiang, Xia; Askling, Johan; Hiraki, Linda T; Malspeis, Susan; Klareskog, Lars; Alfredsson, Lars; Costenbader, Karen H; Karlson, Elizabeth W

2015-08-01

To develop and validate rheumatoid arthritis (RA) risk models based on family history, epidemiologic factors and known genetic risk factors. We developed and validated models for RA based on known RA risk factors, among women in two cohorts: the Nurses' Health Study (NHS, 381 RA cases and 410 controls) and the Epidemiological Investigation of RA (EIRA, 1244 RA cases and 971 controls). Model discrimination was evaluated using the area under the receiver operating characteristic curve (AUC) in logistic regression models for the study population and for those with positive family history. The joint effect of family history with genetics, smoking and body mass index (BMI) was evaluated using logistic regression models to estimate ORs for RA. The complete model including family history, epidemiologic risk factors and genetics demonstrated AUCs of 0.74 for seropositive RA in NHS and 0.77 for anti-citrullinated protein antibody (ACPA)-positive RA in EIRA. Among women with positive family history, discrimination was excellent for complete models for seropositive RA in NHS (AUC 0.82) and ACPA-positive RA in EIRA (AUC 0.83). Positive family history, high genetic susceptibility, smoking and increased BMI had an OR of 21.73 for ACPA-positive RA. We developed models for seropositive and seronegative RA phenotypes based on family history, epidemiological and genetic factors. Among those with positive family history, models using epidemiologic and genetic factors were highly discriminatory for seropositive and seronegative RA. Assessing epidemiological and genetic factors among those with positive family history may identify individuals suitable for RA prevention strategies. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Disparities in cancer screening in individuals with a family history of breast or colorectal cancer.

PubMed

Ponce, Ninez A; Tsui, Jennifer; Knight, Sara J; Afable-Munsuz, Aimee; Ladabaum, Uri; Hiatt, Robert A; Haas, Jennifer S

2012-03-15

Understanding racial/ethnic disparities in cancer screening by family history risk could identify critical opportunities for patient and provider interventions tailored to specific racial/ethnic groups. The authors evaluated whether breast cancer (BC) and colorectal cancer (CRC) disparities varied by family history risk using a large, multiethnic population-based survey. By using the 2005 California Health Interview Survey, BC and CRC screening were evaluated separately with weighted multivariate regression analyses, and stratified by family history risk. Screening was defined for BC as mammogram within the past 2 years for women aged 40 to 64 years; for CRC, screening was defined as annual fecal occult blood test, sigmoidoscopy within the past 5 years, or colonoscopy within the past 10 years for adults aged 50 to 64 years. The authors found no significant BC screening disparities by race/ethnicity or income in the family history risk groups. Racial/ethnic disparities were more evident in CRC screening, and the Latino-white gap widened among individuals with family history risk. Among adults with a family history for CRC, the magnitude of the Latino-white difference in CRC screening (odds ratio [OR], 0.28; 95% confidence interval [CI], 0.11-0.60) was more substantial than that for individuals with no family history (OR, 0.74; 95% CI, 0.59-0.92). Knowledge of their family history widened the Latino-white gap in CRC screening among adults. More aggressive interventions that enhance the communication between Latinos and their physicians about family history and cancer risk could reduce the substantial Latino-white screening disparity in Latinos most susceptible to CRC. Copyright © 2011 American Cancer Society.

Family history of cancer and risk of Pancreatic Cancer: A Pooled Analysis from the Pancreatic Cancer Cohort Consortium (PanScan)

PubMed Central

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

Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: Rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives

PubMed Central

Sparks, Jeffrey A.; Iversen, Maura D.; Kroouze, Rachel Miller; Mahmoud, Taysir G.; Triedman, Nellie A.; Kalia, Sarah S.; Atkinson, Michael L.; Lu, Bing; Deane, Kevin D.; Costenbader, Karen H.; Green, Robert C.; Karlson, Elizabeth W.

2014-01-01

We present the rationale, design features, and protocol of the Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study (ClinicalTrials.gov NCT02046005). The PRE-RA Family Study is an NIH-funded prospective, randomized controlled trial designed to compare the willingness to change behaviors in first-degree relatives of rheumatoid arthritis (RA) patients without RA after exposure to RA risk educational programs. Consented subjects are randomized to receive education concerning their personalized RA risk based on demographics, RA-associated behaviors, genetics and biomarkers or to receive standard RA information. Four behavioral factors associated with RA risk were identified from prior studies for inclusion in the risk estimate: cigarette smoking, excess body weight, poor oral health, and low fish intake. Personalized RA risk information is presented through an online tool that collects data on an individual's specific age, gender, family history, and risk-related behaviors; presents genetic and biomarker results; displays relative and absolute risk of RA; and provides personalized feedback and education. The trial outcomes will be changes in willingness to alter behaviors from baseline to 6 weeks, 6 months, and 12 months in the three intervention groups. The design and execution of this trial that targets a special population at risk for RA, while incorporating varied risk factors into a single risk tool, offer distinct challenges. We provide the theoretical rationale for the PRE-RA Family Study and highlight particular design features of this trial that utilize personalized risk education as an intervention. PMID:25151341

The effect of positive family history of autoimmunity in juvenile idiopathic arthritis characteristics; a case control study.

PubMed

Khani, Mehdi; Ziaee, Vahid; Moradinejad, Mohamad-Hassan; Parvaneh, Nima

2013-10-01

To compare Juvenile Idiopathic Arthritis (JIA) patients with and without family history of autoimmune disease with respect to clinical features and laboratory data. Sixteen JIA patients with family history of autoimmune disease were identified during study, 32 patients were chosen for comparative group from referred patients to the rheumatology clinic according to the date of referral. Two groups were compared with respect to age of onset, sex, subtype, disease activity, duration of active disease and laboratory variables. The age of onset was significantly lower in JIA patients with family history of autoimmunity (4.7 years vs. 7.0 years; P=0.02), polyarthicular subtype was more frequent in patients with positive family history (50% vs.25%; P=0.04) most of JIA patients with positive family history were in the active phase at the time of study (64% vs 25%; P=0.02) and had a longer duration of active disease (21.0 months vs 12.3 months; P=0.04). Patients with positive family history had more positive ANA (43.5%% vs 12.5%; P=0.01) and also more positive ADA (75% vs 20.8%; P=0.002). Two groups were similar according to sex, and other laboratory variables. JIA patients with family history of autoimmune disease seem to have a more severe disease than patients without such family history, they are younger at the onset, and have mostly poyarthicular subtype. They also have more ANA and ADA positivity. These findings are different from familial JIA case-control studies according to active disease duration, subtype, and ANA positivity.

Hormone Therapy in Breast Cancer Survivors and Those at High Risk for Breast Cancer.

PubMed

Reid, Robert L

2018-05-10

Women and health care providers are often fearful of using hormone therapy to deal with distressing menopausal symptoms in circumstances where there is a perceived or real increased risk of breast cancer. This paper examines the evidence for and against hormone therapy use in 3 common clinical situations: the woman with a positive family history in a first-degree relative, the woman who has undergone risk-reducing salpingo-oophorectomy due to a known genetic mutation, and the woman in whom treatment of breast cancer has induced premature menopause.

Family-planning practices among women with diabetes and overweight and obese women in the 2002 National Survey For Family Growth.

PubMed

Vahratian, Anjel; Barber, Jennifer S; Lawrence, Jean M; Kim, Catherine

2009-06-01

To examine contraceptive practices among diabetic women and obese women. We analyzed the responses of 5,955 participants aged 20-44 years in the 2002 National Survey for Family Growth. Diabetes, BMI, desire for pregnancy, history of infertility treatment, sexual activity, parity, and demographic variables (age, race/ethnicity, education, marital status, income, insurance, and smoking history) were obtained by self-report. Lack of contraception was defined as absence of hormonal-, barrier-, or sterilization-based methods. Associations among contraception, diabetes, and BMI category were assessed in multivariable logistic regression models in nonsterile, sexually active women. In unadjusted comparisons among sexually active women who were not sterilized, women with diabetes were more likely to lack contraception than women without diabetes (odds ratio [OR] 2.61 [95% CI 1.22-5.58]). Women with BMI >or=35 kg/m(2) were more likely to lack contraception than women with BMI <25 kg/m(2)(1.63 [1.16-2.28]), but associations between contraception use and lesser degrees of overweight and obesity were not significant. In multivariable models, women who were older (aged >or=30 vs. 20-29 years), were of non-Hispanic black race, were cohabitating, had a history of infertility treatment, and desired or were ambivalent about pregnancy were significantly more likely to lack contraception. The associations among diabetes, BMI, and contraception were no longer significant after these adjustments. Older women with diabetes and obesity who desire pregnancy, regardless of pregnancy intention, should be targeted for preconceptive management.

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

PubMed

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 (P<0.001) body mass index (BMI), waist circumference (WC), waist-hip ratio (WHR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and fasting blood glucose (FBG; P=0.035) than individuals having no family history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (P<0.001). Differences were evident between individuals who fulfilled all the MS criteria (P=0.001) and individuals with only one or two criteria (phenotypes) according to family 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.

Family health history reporting is sensitive to small changes in wording.

PubMed

Conway-Pearson, Liam S; Christensen, Kurt D; Savage, Sarah K; Huntington, Noelle L; Weitzman, Elissa R; Ziniel, Sonja I; Bacon, Phoebe; Cacioppo, Cara N; Green, Robert C; Holm, Ingrid A

2016-12-01

Family health history is often collected through single-item queries that ask patients whether their family members are affected by certain conditions. The specific wording of these queries may influence what individuals report. Parents of Boston Children's Hospital patients were invited to participate in a Web-based survey about the return of individual genomic research results regarding their children. Participants reported whether 11 types of medical conditions affected them or their family. Randomization determined whether participants were specifically instructed to consider their extended family. Family health history was reported by 2,901 participants. Those asked to consider their extended family were more likely to report a positive family history for 8 of 11 medical conditions. The largest differences were observed for cancer (65.1 vs. 45.7%; P < 0.001), cardiovascular conditions (72.5 vs. 56.0%; P < 0.001), and endocrine/hormonal conditions (50.9 vs. 36.7%; P < 0.001). Small alterations to the way family health history queries are worded can substantially change patient responses. Clinicians and researchers need to be sensitive about patients' tendencies to omit extended family from health history reporting unless specifically asked to consider them.Genet Med 18 12, 1308-1311.

Breast and Ovarian Cancer and Family History Risk Categories

MedlinePlus

... gov . Diseases Breast and Ovarian Cancer and Family History Risk Categories Recommend on Facebook Tweet Share Compartir ... Preventive Services Task Force. February 2016. Family Health History, Breast and Ovarian Cancer Risk, and Women of ...

Paternal history of mental illness associated with posttraumatic stress disorder among veterans.

PubMed

Shepherd-Banigan, Megan; Kelley, Michelle L; Katon, Jodie G; Curry, John F; Goldstein, Karen M; Brancu, Mira; Wagner, H Ryan; Fecteau, Teresa E; Van Houtven, Courtney H

2017-10-01

This study examined the association between parent and family reported history of non-PTSD mental illness (MI), PTSD specifically, and substance use problems, and participant clinical diagnosis of PTSD. Participants were drawn from the US Department of Veterans Affairs Mid-Atlantic Mental Illness Research, Education and Clinical Center (MIRECC) Post-Deployment Mental Health (PDMH) study (n = 3191), an ongoing multi-site cohort study of US Afghanistan and Iraq conflict era veterans. Participants who recalled a father history of PTSD had a 26-percentage point higher likelihood of meeting criteria for PTSD; while participants reporting any family history of PTSD had a 15-percentage point higher probability of endorsing symptoms consistent with PTSD. Mother history of substance use problems was associated with Veteran current PTSD, but results were sensitive to model specification. Current PTSD was not associated with family/parent history of non-PTSD mental illness, mother history of PTSD, or family/father history of substance use problems. Family history of PTSD may increase PTSD risk among veterans exposed to trauma, particularly when a father history is reported. Knowledge of family history could improve clinical decision-making for trauma-exposed individuals and allow for more effective targeting of programs and clinical services. Published by Elsevier B.V.

45 CFR 2400.42 - Approval of Plan of Study.

Code of Federal Regulations, 2010 CFR

2010-10-01

...-time basis lead to a master's degree in history or political science, the degree of Master of Arts in Teaching in history or political science, or a related master's degree in education that permits a concentration in American history, American government, social studies, or political science; (b) Include...

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

PubMed Central

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 (ps<.01), indicating that intervention had effects of different magnitude between those already communicating 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. 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

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

PubMed

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's<.01), indicating that intervention had effects of different magnitude between those already communicating 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.

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.

PubMed

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; P<0.001]. Specifically, 57 out of 85 cancer patients (67%) with familial cancer history had these mutations, while 41 out of 161 patients (25%) without family history harbored mutations. Subgroup analysis also revealed that patients with familial lung cancer history had stronger association with EGFR mutations (OR: 7.5; 95% CI: 3.4-16.3; P<0.001) compared to patients with family history of non-pulmonary cancers (OR: 5.0; 95% CI: 2.5-10.0; P<0.001). The study demonstrated an increased prevalence of EGFR mutations in Taiwanese never 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.

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

PubMed

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.

Cognitive-Behavioral Coping, Illness Perception, and Family Adaptability in Oncological Patients with a Family History of Cancer.

PubMed

Postolica, Roxana; Iorga, Magdalena; Petrariu, Florin Dumitru; Azoicai, Doina

2017-01-01

Aim . The study investigated the differences between patients with and without a family history of cancer regarding coping strategies, illness perception, and family adaptability to the disease. Material and Methods . A total of 124 patients diagnosed with cancer were included in the research (55 of them with a family history of cancer). The Cognitive Emotion Regulation Questionnaire , the Strategic Approach to Coping Scale , the Family Adaptability and Cohesion Scale , and the Illness Perception Questionnaire were applied. The data were processed using the SPSS 21 software. Results . Patients with previous records of cancer in the family get significantly higher scores for the illness coherence factor. Family satisfaction is significantly higher for patients with a genetic risk, compared to the one reported by patients who suffer from the disease but have no genetic risk. Cognitive-behavioral coping strategies and family cohesion are factors that correlate with an adaptive perception of the illness in the case of patients with a family history of cancer. Conclusion . Results are important for the construction of strategies used for patients with a family history of cancer.

Cognitive-Behavioral Coping, Illness Perception, and Family Adaptability in Oncological Patients with a Family History of Cancer

PubMed Central

Petrariu, Florin Dumitru; Azoicai, Doina

2017-01-01

Aim. The study investigated the differences between patients with and without a family history of cancer regarding coping strategies, illness perception, and family adaptability to the disease. Material and Methods. A total of 124 patients diagnosed with cancer were included in the research (55 of them with a family history of cancer). The Cognitive Emotion Regulation Questionnaire, the Strategic Approach to Coping Scale, the Family Adaptability and Cohesion Scale, and the Illness Perception Questionnaire were applied. The data were processed using the SPSS 21 software. Results. Patients with previous records of cancer in the family get significantly higher scores for the illness coherence factor. Family satisfaction is significantly higher for patients with a genetic risk, compared to the one reported by patients who suffer from the disease but have no genetic risk. Cognitive-behavioral coping strategies and family cohesion are factors that correlate with an adaptive perception of the illness in the case of patients with a family history of cancer. Conclusion. Results are important for the construction of strategies used for patients with a family history of cancer. PMID:28424789

Medical History: Compiling Your Medical Family Tree

MedlinePlus

... family medical history, sometimes called a medical family tree, is a record of illnesses and medical conditions ... to consult family documents, such as existing family trees, baby books, old letters, obituaries or records from ...

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

PubMed

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.

An Inexpensive Family Index of Risk for Mood Issues Improves Identification of Pediatric Bipolar Disorder

PubMed Central

Algorta, Guillermo Perez; Youngstrom, Eric A.; Phelps, James; Jenkins, Melissa M.; Kogos, Jennifer L.; Findling, Robert L.

2013-01-01

Family history of mental illness provides important information when evaluating pediatric bipolar disorder (PBD). However, such information is often challenging to gather within clinical settings. This study investigates the feasibility and utility of gathering family history information using an inexpensive method practical for outpatient settings. Families (N=273) completed family history, rating scales, MINI and KSADS interviews about youths 5–18 (median=11) years presenting to an outpatient clinic. Primary caregivers completed a half page Family Index of Risk for Mood issues (FIRM). All families completed the FIRM quickly and easily. Most (78%) reported 1+ relatives having history of mood or substance issues, M=3.7 (SD=3.3). A simple sum of familial mood issues discriminated cases with PBD from all other cases, AUROC=.63, p=.006. FIRM scores were specific to youth mood disorder and not ADHD or disruptive behavior disorder. FIRM scores significantly improved the detection of PBD even controlling for rating scales. No subset of family risk items performed better than the total. Family history information showed clinically meaningful discrimination of PBD. Two different approaches to clinical interpretation showed validity in these clinically realistic data. Inexpensive and clinically practical methods of gathering family history can help to improve the detection of PBD. PMID:22800090

The application of computer-based tools in obtaining the genetic family history.

PubMed

Giovanni, Monica A; Murray, Michael F

2010-07-01

Family health history is both an adjunct to and a focus of current genetic research, having long been known to be a powerful predictor of individual disease risk. As such, it has been primarily used as a proxy for genetic information. Over the past decade, new roles for family history have emerged, perhaps most importantly as a primary tool for guiding decision-making on the use of expensive genetic testing. The collection of family history information is an important but time-consuming process. Efforts to engage the patient or research subject in preliminary data collection have the potential to improve data accuracy and allow clinicians and researchers more time for analytic tasks. The U.S. Surgeon General, the Centers for Disease Control and Prevention (CDC), and others have developed tools for electronic family history collection. This unit describes the utility of the Web-based My Family Health Portrait (https://familyhistory.hhs.gov) as the prototype for patient-entered family history.

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

PubMed

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 < .001), seek health information frequently in newspapers (p < .001) and in general (p < .001), and be female (p < .001). Patients who talked frequently with doctors about FHH were more likely to report a family history of heart disease (p = .011), meet physical activity recommendations (p = .022), seek health information frequently in newspapers (p < .001) and in general (p < .001), be female (p < .001), and not have experienced racial discrimination in healthcare (p < .001). Patients with a family 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.

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

PubMed

Stephens, Dafydd; Kramer, Sophia E

2005-04-01

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 given an open-ended questionnaire asking whether such a family history had any effects on them and, if so, to list any effects. Results were qualitatively analysed. 57 subjects indicated effects. Of those listed, 57% were positive, 19% negative, and 24% neutral. The most common positive effects concerned realising the importance of hearing aids and early help-seeking. Common negative effects were concern for the future of themselves and their children. Neutral effects were a reported ignorance or denial of a family history. The results emphasize the importance of asking patients about any family history when planning their rehabilitative programme.

Finding Family Facts in the Digital Age: Family History Research and Production Literacies

ERIC Educational Resources Information Center

Willever-Farr, Heather Lynn

2017-01-01

This study examines the online information behaviors of experienced and novice family history researchers, though the lens of accuracy and an increasingly digital research and production environment. It presents a model of the information behaviors of family history researchers, as well as a literacies framework, which visualizes the skills and…

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

PubMed

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.

The Effect of Positive Family History of Autoimmunity in Juvenile Idiopathic Arthritis Characteristics; a Case Control Study

PubMed Central

Khani, Mehdi; Ziaee, Vahid; Moradinejad, Mohamad-Hassan; Parvaneh, Nima

2013-01-01

Objective To compare Juvenile Idiopathic Arthritis (JIA) patients with and without family history of autoimmune disease with respect to clinical features and laboratory data. Methods Sixteen JIA patients with family history of autoimmune disease were identified during study, 32 patients were chosen for comparative group from referred patients to the rheumatology clinic according to the date of referral. Two groups were compared with respect to age of onset, sex, subtype, disease activity, duration of active disease and laboratory variables. Findings The age of onset was significantly lower in JIA patients with family history of autoimmunity (4.7 years vs. 7.0 years; P=0.02), polyarthicular subtype was more frequent in patients with positive family history (50% vs.25%; P=0.04) most of JIA patients with positive family history were in the active phase at the time of study (64% vs 25%; P=0.02) and had a longer duration of active disease (21.0 months vs 12.3 months; P=0.04). Patients with positive family history had more positive ANA (43.5%% vs 12.5%; P=0.01) and also more positive ADA (75% vs 20.8%; P=0.002). Two groups were similar according to sex, and other laboratory variables. Conclusion JIA patients with family history of autoimmune disease seem to have a more severe disease than patients without such family history, they are younger at the onset, and have mostly poyarthicular subtype. They also have more ANA and ADA positivity. These findings are different from familial JIA case-control studies according to active disease duration, subtype, and ANA positivity. PMID:24800019

Perceptions of family history and genetic testing and feasibility of pedigree development among African Americans with hypertension

PubMed Central

Pettey, Christina M; McSweeney, Jean C; Stewart, Katharine E; Price, Elvin T; Cleves, Mario A; Heo, Seongkum; Souder, Elaine

2016-01-01

Background Pedigree development, family history, and genetic testing are thought to be useful in improving outcomes of chronic illnesses such as hypertension (HTN). However, the clinical utility of pedigree development is still unknown. Further, little is known about African Americans’ (AAs’) perceptions of family history and genetic testing. Aims This study examined the feasibility of developing pedigrees for AAs with HTN and explored perceptions of family history and genetic research among AAs with HTN. Methods The US Surgeon General’s My Family Health Portrait was administered, and 30–60 minute in-person individual interviews were conducted. Descriptive statistics were used to analyze pedigree data. Interview transcripts were analyzed with content analysis and constant comparison. Results Twenty-nine AAs with HTN were recruited from one free clinic (15 women, 14 men; mean age 49 years, SD 9.6). Twenty-six (90%) reported their family history in sufficient detail to develop a pedigree. Perceptions of family history included knowledge of HTN in the family, culturally influenced family teaching about HTN, and response to family history of HTN. Most participants agreed to future genetic testing and DNA collection because they wanted to help others; some said they needed more information and others expressed a concern for privacy. Conclusion The majority of AAs in this sample possessed extensive knowledge of HTN within their family and were able to develop a three generation pedigree with assistance. The majority were willing to participate in future genetic research. PMID:25322748

Perceptions of family history and genetic testing and feasibility of pedigree development among African Americans with hypertension.

PubMed

Pettey, Christina M; McSweeney, Jean C; Stewart, Katharine E; Price, Elvin T; Cleves, Mario A; Heo, Seongkum; Souder, Elaine

2015-02-01

Pedigree development, family history, and genetic testing are thought to be useful in improving outcomes of chronic illnesses such as hypertension (HTN). However, the clinical utility of pedigree development is still unknown. Further, little is known about the perceptions of African Americans (AAs) of family history and genetic testing. This study examined the feasibility of developing pedigrees for AAs with HTN and explored perceptions of family history and genetic research among AAs with HTN. The US Surgeon General's My Family Health Portrait was administered, and 30-60 min in-person individual interviews were conducted. Descriptive statistics were used to analyze pedigree data. Interview transcripts were analyzed with content analysis and constant comparison. Twenty-nine AAs with HTN were recruited from one free clinic (15 women, 14 men; mean age 49 years, standard deviation (SD) 9.6). Twenty-six (90%) reported their family history in sufficient detail to develop a pedigree. Perceptions of family history included knowledge of HTN in the family, culturally influenced family teaching about HTN, and response to family history of HTN. Most participants agreed to future genetic testing and DNA collection because they wanted to help others; some said they needed more information and others expressed a concern for privacy. The majority of AAs in this sample possessed extensive knowledge of HTN within their family and were able to develop a three-generation pedigree with assistance. The majority were willing to participate in future genetic research. © The European Society of Cardiology 2014.

A Diffusion Model Analysis of Episodic Recognition in Individuals with a Family History for Alzheimer Disease: The Adult Children Study

PubMed Central

Aschenbrenner, Andrew J.; Balota, David A.; Gordon, Brian A.; Ratcliff, Roger; Morris, John C.

2015-01-01

Objective A family history of Alzheimer disease (AD) increases the risk of developing AD and can influence the accumulation of well-established AD biomarkers. There is some evidence that family history can influence episodic memory performance even in cognitively normal individuals. We attempted to replicate the effect of family history on episodic memory and used a specific computational model of binary decision making (the diffusion model) to understand precisely how family history influences cognition. Finally, we assessed the sensitivity of model parameters to family history controlling for standard neuropsychological test performance. Method Across two experiments, cognitively healthy participants from the Adult Children Study completed an episodic recognition test consisting of high and low frequency words. The diffusion model was applied to decompose accuracy and reaction time into latent parameters which were analyzed as a function of family history. Results In both experiments, individuals with a family history of AD exhibited lower recognition accuracy and this occurred in the absence of an apolipoprotein E (APOE) ε4 allele. The diffusion model revealed this difference was due to changes in the quality of information accumulation (the drift rate) and not differences in response caution or other model parameters. This difference remained after controlling for several standard neuropsychological tests. Conclusions These results confirm that the presence of a family history of AD confers a subtle cognitive deficit in episodic memory as reflected by decreased drift rate that cannot be attributed to APOE. This measure may serve as a novel cognitive marker of preclinical AD. PMID:26192539

Family history of frontotemporal lobar degeneration in Asia--an international multi-center research.

PubMed

Fukuhara, Ryuji; Ghosh, Amitabha; Fuh, Jong-Ling; Dominguez, Jacqueline; Ong, Paulus Anam; Dutt, Aparna; Liu, Yi-Chien; Tanaka, Hibiki; Ikeda, Manabu

2014-12-01

Previous studies in western countries have shown that about 30%-50% of patients with frontotemporal lobar degeneration (FTLD) have a positive family history, whereas the few epidemiological studies on FTLD done in Asia reported much lower frequencies. It is not clear the reason why the frequencies of FTLD with positive family history were lower in Asia. Furthermore, these findings were not from studies focused on family history. Therefore, it is necessary to conduct further studies on the family history of FTLD in Asia. This international multi-center research aims to investigate the family histories in patients with FTLD and related neurodegenerative diseases such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and motor neuron diseases in a larger Asian cohort. Participants were collected from five countries: India, Indonesia, Japan, Taiwan, and Philippines. All patients were diagnosed with behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD), progressive non-fluent aphasia (PA), frontotemporal dementia with motor neuron disease (FTD/MND), PSP, and corticobasal degeneration (CBD) according to international consensus criteria. Family histories of FTLD and related neurodegenerative diseases were investigated in each patient. Ninety-one patients were included in this study. Forty-two patients were diagnosed to have bvFTD, two patients had FTD/MND, 22 had SD, 15 had PA, one had PA/CBS, five had CBS and four patients had PSP. Family history of any FTLD spectrum disorder was reported in 9.5% in bvFTD patients but in none of the SD or PA. In contrast to patients of the western countries, few Asian FTLD patients have positive family histories of dementia.

Underdiagnosis of Lynch Syndrome Involves More than Family History Criteria

PubMed Central

Singh, Hardeep; Schiesser, Rachel; Anand, Gobind; Richardson, Pete; El-Serag, Hashem B.

2010-01-01

Background Physicians’ cancer-related family history assessment for Lynch syndrome is often inadequate. Furthermore, the extent to which clinicians recognize non-family history-related clues for Lynch syndrome is unclear. We reviewed an integrated electronic health record (EHR) to determine diagnostic evaluation for Lynch syndrome in patients diagnosed with colorectal cancer (CRC). Methods We conducted a retrospective cohort study of consecutive patients with CRC, newly diagnosed at a tertiary care VA facility, between 1999 and 2007. A detailed review of the EHR was conducted to evaluate the presence of family-history and non-family history-related criteria of the Bethesda guidelines. Patient outcomes (identification in clinical practice and referral for genetic testing) were also determined. Results We identified a total of 499 patients (mean age=65.4 years, 98.6% male, 51.1% non-Hispanic white). At least 1 of the Bethesda criterion was met for 57 patients (11.4%); none were met for 198 (39.7%); and there was uncertainty for 244 (48.9%) because of inadequate family history documentation and/or the patient was unsure about their family history. Forty-nine patients met criteria unrelated to family history. Only 4 of 57 patients (7%) that met the Bethesda guidelines had documentation of counseling. Among 244 patients with uncertainty, a suspicion for Lynch syndrome was documented in the EHR of 6 patients (2.5%); 3 received counseling. Conclusions Lynch syndrome is under-recognized, even when patients have clear criteria unrelated to family history. Multifaceted strategies focused on reducing providers’ cognitive errors and harnessing EHR capabilities to improve recognition of Lynch syndrome are needed. PMID:20303416

Plant family identity distinguishes patterns of carbon and nitrogen stable isotope abundance and nitrogen concentration in mycoheterotrophic plants associated with ectomycorrhizal fungi.

PubMed

Hynson, Nicole A; Schiebold, Julienne M-I; Gebauer, Gerhard

2016-09-01

Mycoheterotrophy entails plants meeting all or a portion of their carbon (C) demands via symbiotic interactions with root-inhabiting mycorrhizal fungi. Ecophysiological traits of mycoheterotrophs, such as their C stable isotope abundances, strongly correlate with the degree of species' dependency on fungal C gains relative to C gains via photosynthesis. Less explored is the relationship between plant evolutionary history and mycoheterotrophic plant ecophysiology. We hypothesized that the C and nitrogen (N) stable isotope compositions, and N concentrations of fully and partially mycoheterotrophic species differentiate them from autotrophs, and that plant family identity would be an additional and significant explanatory factor for differences in these traits among species. We focused on mycoheterotrophic species that associate with ectomycorrhizal fungi from plant families Ericaceae and Orchidaceae. Published and unpublished data were compiled on the N concentrations, C and N stable isotope abundances (δ(13)C and δ(15)N) of fully (n = 18) and partially (n = 22) mycoheterotrophic species from each plant family as well as corresponding autotrophic reference species (n = 156). These data were used to calculate site-independent C and N stable isotope enrichment factors (ε). Then we tested for differences in N concentration, (13)C and (15)N enrichment among plant families and trophic strategies. We found that in addition to differentiating partially and fully mycoheterotrophic species from each other and from autotrophs, C and N stable isotope enrichment also differentiates plant species based on familial identity. Differences in N concentrations clustered at the plant family level rather than the degree of dependency on mycoheterotrophy. We posit that differences in stable isotope composition and N concentrations are related to plant family-specific physiological interactions with fungi and their environments. © The Author 2016. Published by Oxford University Press on behalf of the Annals of Botany Company. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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

PubMed

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.

Interactions of Family History of Breast Cancer with Radiotherapy in Relation to the Risk of Breast Cancer Recurrence.

PubMed

Li, Danmeng; Mai, Volker; Gerke, Travis; Pinney, Susan Mengel; Yaghjyan, Lusine

2017-12-01

We examined associations between a family history of breast cancer and the risk of breast cancer recurrence in women who received or did not receive radiotherapy. Our study included 2,440 women enrolled in the Breast Cancer Registry of Greater Cincinnati. Information on breast cancer risk factors, including detailed family history of breast cancer, characteristics of the primary tumor, treatment received, and recurrence status was collected at baseline and via updates. Associations between a family history of breast cancer and the risk of breast cancer recurrence were examined separately in women treated with and without radiotherapy using survival analysis. Over an average follow-up time of 8.78 years, we found no associations between a family history of breast cancer and the risk of breast cancer recurrence among women with a history of radiotherapy (hazard ratio [HR], 0.96; 95% confidence interval [CI], 0.75-1.23). Among women who did not receive radiotherapy, the total number of relatives with breast cancer was positively associated with the risk of breast cancer recurrence (HR, 1.21; 95% CI, 1.00-1.47). We found no interactions of radiotherapy with family history (p-interaction >0.05). Radiotherapy for a primary breast cancer in women with a family history of breast cancer does not increase risk of breast cancer recurrence. If these findings are replicated in future studies, the results may translate into an important health message for breast cancer survivors with a family history of breast cancer.

Put the Family Back in Family Health History: A Multiple-Informant Approach.

PubMed

Lin, Jielu; Marcum, Christopher S; Myers, Melanie F; Koehly, Laura M

2017-05-01

An accurate family health history is essential for individual risk assessment. This study uses a multiple-informant approach to examine whether family members have consistent perceptions of shared familial risk for four common chronic conditions (heart disease, Type 2 diabetes, high cholesterol, and hypertension) and whether accounting for inconsistency in family health history reports leads to more accurate risk assessment. In 2012-2013, individual and family health histories were collected from 127 adult informants of 45 families in the Greater Cincinnati Area. Pedigrees were linked within each family to assess inter-informant (in)consistency regarding common biological family member's health history. An adjusted risk assessment based on pooled pedigrees of multiple informants was evaluated to determine whether it could more accurately identify individuals affected by common chronic conditions, using self-reported disease diagnoses as a validation criterion. Analysis was completed in 2015-2016. Inter-informant consistency in family health history reports was 54% for heart disease, 61% for Type 2 diabetes, 43% for high cholesterol, and 41% for hypertension. Compared with the unadjusted risk assessment, the adjusted risk assessment correctly identified an additional 7%-13% of the individuals who had been diagnosed, with a ≤2% increase in cases that were predicted to be at risk but had not been diagnosed. Considerable inconsistency exists in individual knowledge of their family health history. Accounting for such inconsistency can, nevertheless, lead to a more accurate genetic risk assessment tool. A multiple-informant approach is potentially powerful when coupled with technology to support clinical decisions. Published by Elsevier Inc.

Elevated basal intestinal mucosal cytokine levels in asymptomatic first-degree relatives of patients with Crohn’s disease

PubMed Central

Indaram, Anant VK; Nandi, Santa; Weissman, Sam; Lam, Sing; Bailey, Beverly; Blumstein, Meyer; Greenberg, Ronald; Bank, Simmy

2000-01-01

AIM: To determine levels of cytokines in colonic mucosa of asymptomatic first degree relatives of Crohn’s disease patients. METHODS: Cytokines (Interleukin (IL) 1-Beta, IL-2, IL-6 and IL-8) were measured using ELISA in biopsy samples of normal looking colonic mucosa of first degree relatives of Crohn’s disease patients (n = 9) and fro m normal controls (n = 10) with no family history of Crohn’s disease. RESULTS: Asymptomatic first degree relatives of patients with Crohn’s disease had significantly higher levels of basal intestinal mucosal cytokines (IL-2, IL-6 and IL-8) than normal controls. Whether these increase d cytokine levels serve as phenotypic markers for a genetic predisposition to de veloping Crohn’s disease later on, or whether they indicate early (pre-cli nical) damage has yet to be further defined. CONCLUSION: Asymptomatic first degree relatives of Crohn’s disease patients have higher levels of cytokines in their normal-looking intestinal mucosa compared to normal controls. This supports the hypothesis that increased cytokines may be a cause or an early event in the inflammatory cascade of Crohn’s disease and are not merely a result of the inflammatory process. PMID:11819521

Physician-patient and patient-family communication after colonoscopy.

PubMed

Jiménez, Jessica A; Jung, Barbara; Madlensky, Lisa

2012-09-01

A personal or family history of colorectal adenomas increases the risk of colorectal cancer (CRC). We aimed to compare physicians' communication with polyp patients vs. non-polyp patients, assess whether polyps or CRC family history were associated with physician-patient communication, and describe patients' disclosure of colonoscopy and polyp diagnosis to their relatives. Four hundred nine patients completed an online survey regarding physician-patient communication of colonoscopy results, perceived personal and familial risk of polyps and CRC, and disclosure of colonoscopy results to relatives. Six percent of participants reported that their physicians discussed familial risks. Polyp diagnosis and family history predicted physician-patient discussions about familial CRC risks. Polyp diagnosis predicted physician-patient discussions of future surveillance. Twenty-two percent of patients told none of their relatives that they had a colonoscopy. Family history, gender, and education were associated with patient-family communication. There is room for improvement in physician-patient and patient-family communication following colonoscopy.

Family History Resources.

ERIC Educational Resources Information Center

Bookmark, 1991

1991-01-01

The 12 articles in this issue focus on the theme of family history resources: (1) "Introduction: Family History Resources" (Joseph F. Shubert); (2) "Work, Credentials, and Expectations of a Professional Genealogist" (Coreen P. Hallenbeck and Lewis W. Hallenbeck); (3) "Computers and Genealogy" (Theresa C. Strasser);…

Bridging the etiologic and prognostic outlooks in individualized assessment of absolute risk of an illness: application in lung cancer.

PubMed

Karp, Igor; Sylvestre, Marie-Pierre; Abrahamowicz, Michal; Leffondré, Karen; Siemiatycki, Jack

2016-11-01

Assessment of individual risk of illness is an important activity in preventive medicine. Development of risk-assessment models has heretofore relied predominantly on studies involving follow-up of cohort-type populations, while case-control studies have generally been considered unfit for this purpose. To present a method for individualized assessment of absolute risk of an illness (as illustrated by lung cancer) based on data from a 'non-nested' case-control study. We used data from a case-control study conducted in Montreal, Canada in 1996-2001. Individuals diagnosed with lung cancer (n = 920) and age- and sex-matched lung-cancer-free subjects (n = 1288) completed questionnaires documenting life-time cigarette-smoking history and occupational, medical, and family history. Unweighted and weighted logistic models were fitted. Model overfitting was assessed using bootstrap-based cross-validation and 'shrinkage.' The discriminating ability was assessed by the c-statistic, and the risk-stratifying performance was assessed by examination of the variability in risk estimates over hypothetical risk-profiles. In the logistic models, the logarithm of incidence-density of lung cancer was expressed as a function of age, sex, cigarette-smoking history, history of respiratory conditions and exposure to occupational carcinogens, and family history of lung cancer. The models entailed a minimal degree of overfitting ('shrinkage' factor: 0.97 for both unweighted and weighted models) and moderately high discriminating ability (c-statistic: 0.82 for the unweighted model and 0.66 for the weighted model). The method's risk-stratifying performance was quite high. The presented method allows for individualized assessment of risk of lung cancer and can be used for development of risk-assessment models for other illnesses.

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

PubMed Central

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.

2014-01-01

Purpose To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. Methods 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. Results 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. Conclusions 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. PMID:21150785

Family history of colorectal cancer: clinicians' preventive recommendations and patient behavior.

PubMed

Zlot, Amy I; Silvey, Kerry; Newell, Nanette; Coates, Ralph J; Leman, Richard

2012-01-01

Few population-based studies have addressed the role that family history of colorectal cancer (CRC) plays in clinician decision making or patient health choices. The objective of this study was to evaluate the effect of family history of CRC on clinician practice, patient CRC screening, and patient preventive behavior. We analyzed 2008 Oregon Behavioral Risk Factor Surveillance System data to examine associations between family history of CRC and 1) patient-reported clinician recommendations, 2) perceived risk of developing CRC, 3) adoption of preventive and screening behaviors, and 4) CRC risk factors among 1,795 respondents without CRC. A family history of CRC was positively associated with a higher likelihood of respondents reporting that their clinicians discussed colorectal cancer screening (OR, 4.2; 95% CI, 2.4-7.4) and of respondents having colorectal screening within the recommended time period (OR, 2.2; 95% CI, 1.3-3.9). A family history of CRC was also associated with respondents reporting lifestyle changes to prevent CRC (OR, 2.6; 95% CI, 1.7-4.0). A family history of CRC may prompt clinicians to recommend screening and preventive behavior changes and motivate patients to adopt such strategies.

Computer-supported indirect-form lifestyle-modification support program using Lifestyle Intervention Support Software for Diabetes Prevention (LISS-DP) for people with a family history of type 2 diabetes in a medical checkup setting: a randomized controlled trial.

PubMed

Tokunaga-Nakawatase, Yuri; Nishigaki, Masakazu; Taru, Chiemi; Miyawaki, Ikuko; Nishida, Junko; Kosaka, Shiho; Sanada, Hiromi; Kazuma, Keiko

2014-10-01

To investigate the effect of a computer-supported indirect-form lifestyle-modification program using Lifestyle Intervention Support Software for Diabetes Prevention (LISS-DP), as a clinically feasible strategy for primary prevention, on diet and physical activity habits in adults with a family history of type 2 diabetes. This was a two-arm, randomized controlled trial: (1) lifestyle intervention (LI) group (n=70); (2) control (n=71). Healthy adults aged 30-60 years with a history of type 2 diabetes among their first-degree relatives were recruited. LI group received three times of lifestyle intervention using LISS-DP during six-month intervention period via mail. Lifestyle intervention group showed significantly greater decrease in energy intake six months after baseline, compared to control (-118.31 and -24.79 kcal/day, respectively, p=0.0099, Cohen's d=0.22), though the difference disappeared 1 year after from baseline. No difference was found in physical activity energy expenditure. A computer-based, non-face-to-face lifestyle intervention was effective on dietary habits, only during the intervention period. Further examination of the long-term effects of such intervention and physical activity is required. Copyright © 2014 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.

Using a family systems approach to investigate cancer risk communication within melanoma families.

PubMed

Harris, Julie N; Hay, Jennifer; Kuniyuki, Alan; Asgari, Maryam M; Press, Nancy; Bowen, Deborah J

2010-10-01

The family provides an important communication nexus for information and support exchange about family cancer history, and adoption of family-wide cancer risk reduction strategies. The goals of this study were to (1) use the family systems theory to identify characteristics of this sample of families at increased risk of developing melanoma and (2) to relate familial characteristics to the frequency and style of familial risk communication. Participants were first-degree relatives (n=313) of melanoma patients, recruited into a family web-based intervention study. We used multivariable logistic regression models to analyze the association between family functioning and family communication. Most participants were female (60%), with an average age of 51 years. Fifty percent of participants reported that they spoke to their relatives about melanoma risk and people were more likely to speak to their female family members. Familial adaptation, cohesion, coping, and health beliefs were strongly associated with an open style of risk communication within families. None were associated with a blocked style of risk communication. Only cohesion and adaptation were associated with the amount of risk communication that occurred within families. Overall, individuals who came from families that were more highly cohesive, adaptable, and shared strong beliefs about melanoma risk were more likely to communicate openly about melanoma. The fact that this association was not consistent across blocked communication and communication frequency highlights the multifaceted nature of this process. Future research should focus on the interplay between different facets of communication. Copyright © 2010 John Wiley & Sons, Ltd.

Family History Fails to Detect the Majority of Children with High Capillary Blood Total Cholesterol.

ERIC Educational Resources Information Center

Davidson, Dennis M.; And Others

1991-01-01

To examine the predictive value of family history in detecting children with high blood cholesterol, finger-stick screening was done in children (n=1,118) ages 9-10 with parental and grandparental history of cardiovascular disease and risk factors. Findings showed that screening only children with positive family histories will leave most problems…

Mind-reading difficulties in the siblings of people with Asperger's syndrome: evidence for a genetic influence in the abnormal development of a specific cognitive domain.

PubMed

Dorris, L; Espie, C A E; Knott, F; Salt, J

2004-02-01

Previous research suggests that the phenotype associated with Asperger's syndrome (AS) includes difficulties in understanding the mental states of others, leading to difficulties in social communication and social relationships. It has also been suggested that the first-degree relatives of those with AS can demonstrate similar difficulties, albeit to a lesser extent. This study examined 'theory of mind' (ToM) abilities in the siblings of children with AS relative to a matched control group. 27 children who had a sibling with AS were administered the children's version of the 'Eyes Test' (Baron-Cohen, Wheelwright, Stone, & Rutherford, 1999). The control group consisted of 27 children matched for age, sex, and a measure of verbal comprehension, and who did not have a family history of AS/autism. A significant difference was found between the groups on the Eyes Test, the 'siblings' group showing a poorer performance on this measure of social cognition. The difference was more pronounced among female siblings. These results are discussed in terms of the familial distribution of a neuro-cognitive profile associated with AS, which confers varying degrees of social handicap amongst first-degree relatives. The implication of this finding with regard to the autism/AS phenotype is explored, with some discussion of why this neuro-cognitive profile (in combination with corresponding strengths) may have an evolutionary imperative.

Phylogeny of Elatinaceae and the Tropical Gondwanan Origin of the Centroplacaceae(Malpighiaceae, Elatinaceae) Clade

PubMed Central

Xi, Zhenxiang; Peterson, Kylee; Rushworth, Catherine; Beaulieu, Jeremy; Davis, Charles C.

2016-01-01

The flowering plant family Elatinaceae is a widespread aquatic lineage inhabiting temperate and tropical latitudes, including ∼35(-50) species. Its phylogeny remains largely unknown, compromising our understanding of its systematics. Moreover, this group is particularly in need of attention because the biogeography of most aquatic plant clades has yet to be investigated, resulting in uncertainty about whether aquatic plants show histories that deviate from terrestrial plants. We inferred the phylogeny of Elatinaceae from four DNA regions spanning 59 accessions across the family. An expanded sampling was used for molecular divergence time estimation and ancestral area reconstruction to infer the biogeography of Elatinaceae and their closest terrestrial relatives, Malpighiaceae and Centroplacaceae. The two genera of Elatinaceae, Bergia and Elatine, are monophyletic, but several traditionally recognized groups within the family are non-monophyletic. Our results suggest two ancient biogeographic events in the Centroplacaceae(Malpighiaceae, Elatinaceae) clade involving western Gondwana, while Elatinaceae shows a more complicated biogeographic history with a high degree of continental endemicity. Our results indicate the need for further taxonomic investigation of Elatinaceae. Further, our study is one of few to implicate ancient Gondwanan biogeography in extant angiosperms, especially significant given the Centroplacaceae(Malpighiaceae, Elatinaceae) clade's largely tropical distribution. Finally, Elatinaceae demonstrates long-term continental in situ diversification, which argues against recent dispersal as a universal explanation commonly invoked for aquatic plant distributions. PMID:27684711

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.

PubMed

Kurt-Sukur, E D; Özçakar, Z B; Fitöz, S; Yilmaz, S; Hoppe, B; Yalçinkaya, F

2015-09-01

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies. © Georg Thieme Verlag KG Stuttgart · New York.

The role of family history of depression and the menopausal transition in the development of major depression in midlife women: Study of women's health across the nation mental health study (SWAN MHS).

PubMed

Colvin, Alicia; Richardson, Gale A; Cyranowski, Jill M; Youk, Ada; Bromberger, Joyce T

2017-09-01

This study evaluated whether family history of depression predicts major depression in midlife women above and beyond static risk factors (such as personal history of depression prior to midlife) and risks that may change dynamically across midlife (such as menopausal, psychosocial, and health profiles). Participants were 303 African American and Caucasian women (42-52 years at baseline) recruited into the Study of Women's Health across the Nation (SWAN) Mental Health Study (MHS) in Pittsburgh. Major depression was assessed annually with Structured Clinical Interviews for DSM-IV. Family mental health history was collected at the ninth or tenth annual follow-up. Random effects logistic regression was used to assess the relationship between family history of depression and midlife depression, controlling for baseline sociodemographic characteristics and time-varying risk factors. Family history of depression was associated with midlife depression after adjusting for participant's history of major depression prior to midlife, trait anxiety and baseline age, and time-varying menopausal status, body mass index, very upsetting life events, and chronic difficulties (OR = 2.24, 95% CI = 1.17-4.29, P = .02). Higher odds of major depression were found when women were late perimenopausal or postmenopausal relative to when they were premenopausal or early perimenopausal (OR = 3.01, 95% CI = 1.76-5.15, P < .0001). However, menopausal status was only associated with major depression among women without a family history. Family history of depression predicts major depression in midlife women independent of the menopausal transition and other time-varying covariates. Notably, the menopausal transition was associated with increased risk only among women without a family history of depression. © 2017 Wiley Periodicals, Inc.

Family History

MedlinePlus

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 ...

Mammographic findings of breast cancer screening in patients with positive family history in South-East Nigeria.

PubMed

Ebubedike, U R; Umeh, E O; C Anyanwu, S N

2018-06-01

A positive family history of breast cancer is an important risk factor associated with the development of breast cancer in women. Early detection required regular screening in these women. To determine the mammographic findings of breast cancer screening in patients with a positive family history in Iyienu, Southeast Nigeria. Forty-three consenting females with a positive family history of breast cancer who underwent mammographic screening at Radiology Department, Iyienu Mission Hospital, Anambra State, were enrolled in the study. Mammographic findings were compared with those of females with a negative family history. The mean age was 49.6 years with a range of 35-69 years. The mammographic findings were asymmetric density, nipple retraction, tissue retraction, skin thickening, lymphadenopathy, and calcification within a mass with varying frequency for the right and left breasts. A significant statistical difference was found in lymphadenopathy and calcification for the right and left breasts, respectively, when compared with those without positive family history.

Reference Values of Pulse Wave Velocity in Healthy People from an Urban and Rural Argentinean Population

PubMed Central

Díaz, Alejandro; Galli, Cintia; Tringler, Matías; Ramírez, Agustín; Cabrera Fischer, Edmundo Ignacio

2014-01-01

In medical practice the reference values of arterial stiffness came from multicenter registries obtained in Asia, USA, Australia and Europe. Pulse wave velocity (PWV) is the gold standard method for arterial stiffness quantification; however, in South America, there are few population-based studies. In this research PWV was measured in healthy asymptomatic and normotensive subjects without history of hypertension in first-degree relatives. Normal PWV and the 95% confidence intervals values were obtained in 780 subjects (39.8 ± 18.5 years) divided into 7 age groups (10–98 years). The mean PWV found was 6.84 m/s ± 1.65. PWV increases linearly with aging with a high degree of correlation (r 2 = 0.61; P < 0.05) with low dispersion in younger subjects. PWV progressively increases 6–8% with each decade of life; this tendency is more pronounced after 50 years. A significant increase of PWV over 50 years was demonstrated. This is the first population-based study from urban and rural people of Argentina that provides normal values of the PWV in healthy, normotensive subjects without family history of hypertension. Moreover, the age dependence of PWV values was confirmed. PMID:25215227

Contribution of genome-environment interaction to pre-eclampsia in a Havana Maternity Hospital.

PubMed

Lardoeyt, Roberto; Vargas, Gerardo; Lumpuy, Jairo; García, Ramón; Torres, Yuselis

2013-07-01

Pre-eclampsia is a major cause of morbidity and mortality during pregnancy worldwide and is among the leading causes of maternal mortality in Cuba. It is a complex, multifactoral disease, in which interaction of genetic and environmental factors should not be overlooked if the goal is proper risk assessment to support personalized preventive genetic counseling and more effective prenatal care to prevent pregnancy complications. Determine the contribution to pre-eclampsia of interaction between a predisposing genome and adverse environmental factors in pregnant women in a Havana maternity hospital. This was the exploratory phase of a hospital-based case-control study, using January 2007-December 2009 patient records from the Eusebio Hernández University Hospital, a provincial maternity hospital in Havana. Eighty pregnant women diagnosed with pre-eclampsia and 160 controls were studied. The main variables were age, parity, nutritional status (measured by BMI), alcohol use, tobacco use, and history of pre-eclampsia in relatives of the pregnant woman (proband) or of her partner. Pearson chi square and Fisher exact test were used to assess statistical significance of associations between variables and odds ratio as a measure of association strength. Familial aggregation was studied and a case-control design used to assess gene-environment interaction, using multiplicative and additive models. Among the environmental risk factors studied, alcohol showed the strongest effect on pre-eclampsia risk (OR 3.87, 95% CI 1.64-9.13). Familial pre-eclampsia clustering was observed; risk was increased for both first-degree (OR 2.43, 95% CI 1.62-3.73) and second-degree (OR 1.89, 95% CI 1.34-2.68) relatives as well as for husband's relatives (OR 2.32, 95% CI 1.40-3.86). There was evidence of interaction between alcohol consumption and family history. Familial aggregation of the disorder was demonstrated, the first Cuban epidemiological evidence of genetic and enviromental contributions to pre-eclampsia risk. Familial clustering among the husband's relatives demonstrates the fetal genome's importance in genesis of pre-eclampsia. The interaction of environmental risk factors with genetic ones produces increased pre-eclampsia risk, compared to expectations based on independent action of these variables. KEYWORDS Pre-eclampsia, toxemia of pregnancy, pregnancy outcome, environment, genetics, genome-environment interaction, genetic epidemiology, Cuba.

Geographic migration of black and white families over four generations.

PubMed

Sharkey, Patrick

2015-02-01

This article analyzes patterns of geographic migration of black and white American families over four consecutive generations. The analysis is based on a unique set of questions in the Panel Study of Income Dynamics (PSID) asking respondents about the counties and states in which their parents and grandparents were raised. Using this information along with the extensive geographic information available in the PSID survey, the article tracks the geographic locations of four generations of family members and considers the ways in which families and places are linked together over the course of a family's history. The patterns documented in the article are consistent with much of the demographic literature on the Great Migration of black Americans out of the South, but they reveal new insights into patterns of black migration after the Great Migration. In the most recent generation, black Americans have remained in place to a degree that is unique relative to the previous generation and relative to whites of the same generation. This new geographic immobility is the most pronounced change in black Americans' migration patterns after the Great Migration, and it is a pattern that has implications for the demography of black migration as well as the literature on racial inequality.

Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance.

PubMed

Gilbert, Elizabeth; Zabor, Emily C; Stempel, Michelle; Mangino, Debra; Heerdt, Alexandra; Pilewskie, Melissa

2017-10-01

Women with a BRCA mutation have significantly elevated breast cancer risk, which can be reduced by >90% with bilateral prophylactic mastectomy (BPM). We sought to compare a cohort of BRCA mutation carriers choosing BPM versus breast surveillance to better elucidate factors that may impact decision making. Women with a BRCA mutation were retrospectively identified from a prospectively maintained database. The surveillance cohort (n = 313) consisted of women seen in a high-risk clinic between 2014 and 2016, while the surgery cohort (n = 142) consisted of women who underwent BPM between 2010 and 2016. Clinical and familial factors were compared between the groups. Women choosing BPM were more likely to have a BRCA1 than BRCA2 mutation compared with the surveillance group (57 vs. 45%, p = 0.02) and were less likely to have a personal history of ovarian cancer (10 vs. 20%, p = 0.01). Furthermore, women undergoing BPM were more likely to be married (78 vs. 62%, p = 0.01), to have more children (median 2 vs. 1, p < 0.001), and to have undergone a prophylactic oophorectomy (61 vs. 37%, p < 0.001). Women choosing BPM had more first-degree relatives (63 vs. 48%, p = 0.01) or a sister (23 vs. 14%, p = 0.02) with a history of breast cancer and were more likely to have a family member with ovarian cancer under the age of 40 years (9 vs. 4%, p = 0.03). There was no difference in the number of prior breast biopsies or history of atypia/lobular carcinoma in situ. The decision to undergo BPM appears multifactorial, with gene mutation, family history, and relationships appearing to have the strongest influence on decision making.

Gender-specific determinants of goiter.

PubMed

Farahati, Jamshid; Wegscheider, Karl; Christ, Kerstin; Gilman, Elena; Oing, Wilhelm

2006-12-01

Despite the strong implications of differences between females and males in the risk of goiter, gender-specific issues have not been extensively addressed in investigations of goiter prevalence. The objective of our analysis was to investigate the gender-specific determinants of goiter. Between April 2001 and April 2002. A total of 853 healthy employees from 4 institutions in the western part of Germany between 18 and 68 yr of age were examined by ultrasound of the neck to determine the thyroid volume. Information on sex, age, daily use of iodized salt, the history of goiter in the first-degree relatives, type and amount of smoking, oral contraceptives, and number of pregnancies were assessed by standardized questionnaires. Gender-specific predictors of goiter prevalence were assessed by multivariate logistic regression. The overall prevalence of goiter among study subjects was 204/853 (23.9%). Goiter was present in 80 out of 370 females (21.6%) vs 124/483 (25.7%) in males. In general, smoking (p < 0.0001), increasing age (p < 0.0001), and lack of daily intake of iodized salt (p = 0.004) were associated with goiter prevalence, but not sex (p = 0.39) and family history of goiter (p = 0.16). In 370 females, parity (p = 0.004) and lack of daily intake of iodized salt (p = 0.01) were the major determinants for goiter, whereas age (p = 0.18), oral contraceptives (p = 0.82), family history of goiter (p = 0.33), and smoking (p = 0.09) did not affect goiter prevalence. In 483 males, smoking (p < 0.0001) and age (p < 0.001) affected goiter prevalence, but not family history of goiter (p = 0.39), and the iodine status failed just to reach the significant level (p = 0.08) in this analysis. Gender-specific determinants of goiter are parity and iodine status in females and smoking and increasing age in males.

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

PubMed

Lu, Y; Pouget, J G; Andreassen, O A; Djurovic, S; Esko, T; Hultman, C M; Metspalu, A; Milani, L; Werge, T; Sullivan, P F

2018-05-01

Family history is a long-standing and readily obtainable risk factor for schizophrenia (SCZ). Low-cost genotyping technologies have enabled large genetic studies of SCZ, and the results suggest the utility of genetic risk scores (GRS, direct assessments of inherited common variant risk). Few studies have evaluated family history and GRS simultaneously to ask whether one can explain away the other. We studied 5959 SCZ cases and 8717 controls from four Nordic countries. All subjects had family history data from national registers and genome-wide genotypes that were processed 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. 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 was attenuated but remained significant. The predictive capacity of a model including GRS and family history neared the minimum for clinical utility. Combining national register data with measured genetic risk factors represents an important investigative approach for psychotic disorders. Our findings suggest the potential clinical utility of combining GRS and family history for early prediction and diagnostic improvements.

Characteristics of persons with severe mental illness who have been incarcerated for murder.

PubMed

Matejkowski, Jason C; Cullen, Sara W; Solomon, Phyllis L

2008-01-01

In this descriptive study, we analyzed data collected from multiple state agencies on 95 persons with severe mental illness who were convicted of murder in Indiana between 1990 and 2002. Subjects were predominantly suffering from a mood disorder, were white and male with a high school education or equivalent, were living in stabilized housing, and, to a lesser degree, were involved in significant intimate and familial relationships. Rage or anger, overwhelmingly directed toward intimate or familial relations by the use of a firearm or sharp object, was the most frequently mentioned motive for murder. Most of those studied had been raised in households with significant family dysfunction, had extensive histories of substance abuse and criminality, and had received little treatment for their mental and substance use disorders. Findings are contextualized and compared with similarly descriptive studies of nonlethal violence and persons with a mental illness; hospitalized, schizophrenic and psychotic murderers; and homicide offenders outside the United States.

Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives.

PubMed

Sparks, Jeffrey A; Iversen, Maura D; Miller Kroouze, Rachel; Mahmoud, Taysir G; Triedman, Nellie A; Kalia, Sarah S; Atkinson, Michael L; Lu, Bing; Deane, Kevin D; Costenbader, Karen H; Green, Robert C; Karlson, Elizabeth W

2014-09-01

We present the rationale, design features, and protocol of the Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study (ClinicalTrials.gov NCT02046005). The PRE-RA Family Study is an NIH-funded prospective, randomized controlled trial designed to compare the willingness to change behaviors in first-degree relatives of rheumatoid arthritis (RA) patients without RA after exposure to RA risk educational programs. Consented subjects are randomized to receive education concerning their personalized RA risk based on demographics, RA-associated behaviors, genetics, and biomarkers or to receive standard RA information. Four behavioral factors associated with RA risk were identified from prior studies for inclusion in the risk estimate: cigarette smoking, excess body weight, poor oral health, and low fish intake. Personalized RA risk information is presented through an online tool that collects data on an individual's specific age, gender, family history, and risk-related behaviors; presents genetic and biomarker results; displays relative and absolute risk of RA; and provides personalized feedback and education. The trial outcomes will be changes in willingness to alter behaviors from baseline to 6 weeks, 6 months, and 12 months in the three intervention groups. The design and the execution of this trial that targets a special population at risk for RA, while incorporating varied risk factors into a single risk tool, offer distinct challenges. We provide the theoretical rationale for the PRE-RA Family Study and highlight particular design features of this trial that utilize personalized risk education as an intervention. Copyright © 2014 Elsevier Inc. All rights reserved.

Family History in Young Patients With Stroke.

PubMed

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 <55 years) with 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.

Familial history of reading difficulty is associated with diffused bilateral brain activation during reading and greater association with visual attention abilities.

PubMed

Horowitz-Kraus, Tzipi

2017-10-01

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 with RD using a functional MRI reading task. Seventy-one children with RD participated in the study. Based on parental reports of the existence of RD in one or both of each child's parents, children with RD were divided into two groups: (1) those with a familial history of RD and (2) those without a familial history of RD. Reading and visual attention measures were collected from all participants. Functional MRI data during word reading was acquired in 30 participants of the entire cohort. Children with or without a familial history of RD demonstrated below-average reading and visual attention scores, with greater interaction between these measures in the group with a familial history of RD. Greater bilateral and diffused activation during word reading also were found in this group. We suggest that a familial history of RD is related to greater association between lower reading abilities and visual attention abilities. Parental history of RD therefore may be an important preschool screener (before reading age) to prompt early intervention focused on executive functions and reading-related skills.

Clinical features of children with enthesitis-related juvenile idiopathic arthritis / juvenile spondyloarthritis followed in a French tertiary care pediatric rheumatology centre.

PubMed

Goirand, Maxime; Breton, Sylvain; Chevallier, Frédéric; Duong, Ngoc-Phoi; Uettwiller, Florence; Melki, Isabelle; Mouy, Richard; Wouters, Carine; Bader-Meunier, Brigitte; Job-Deslandre, Chantal; Quartier, Pierre

2018-04-02

Childhood-onset spondyloarthropathies usually start with enthesitis and peripheral arthritis. However, axial disease may develop afterward. Patients are most often classified, following revised (Edmonton 2011) ILAR criteria, as enthesitis-related arthritis, psoriatic arthritis, or unclassified juvenile idiopathic arthritis, particularly in cases of psoriasis in the patient or a first-degree relative. In adults, peripheral spondyloarthritis is classified by ASAS criteria. We retrospectively studied patients with childhood-onset spondyloarthropathies followed for more than one year in our referral centre. We did not exclude patients with a personal or familial history of psoriasis. We included 114 patients followed between January 2008 and December 2015 for a median of 2.5 years (IQR = 2.3). Sixty-nine per-cent of patients fulfilled the revised ILAR classification criteria for enthesitis-related arthritis, and 92% the ASAS criteria for peripheral spondyolarthritis (p <  0.001). Axial disease and sacroiliitis were rare at disease onset. However, they appeared during follow-up in 63% and 47% of cases respectively, after a median disease duration of 2.6 (IC 95% [2.2-4.4]) and 5.3 years (IC 95% [4.1-7.7]), respectively. Multivariable analysis showed that familial history of spondyloarthritis was associated with the presence of sacroiliitis and active disease at the latest follow-up (OR = 3.61 [1.5-8.7], p <  0.01 and 2.98 [1.2-7.3], p = 0.02, respectively). Axial involvement developed in most patients within five years. Revised Edmonton criteria were less sensitive than ASAS criteria to classify patients as having childhood-onset spondyloarthropathies. The main risk factor for both sacroiliitis and persistent active disease was a familial history of spondyloarthritis.

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

PubMed

Harland, Mark; Cust, Anne E; Badenas, Celia; Chang, Yu-Mei; Holland, Elizabeth A; Aguilera, Paula; Aitken, Joanne F; Armstrong, Bruce K; Barrett, Jennifer H; Carrera, Cristina; Chan, May; Gascoyne, Joanne; Giles, Graham G; Agha-Hamilton, Chantelle; Hopper, John L; Jenkins, Mark A; Kanetsky, Peter A; Kefford, Richard F; Kolm, Isabel; Lowery, Johanna; Malvehy, Josep; Ogbah, Zighereda; Puig-Butille, Joan-Anton; Orihuela-Segalés, Jordi; Randerson-Moor, Juliette A; Schmid, Helen; Taylor, Claire F; Whitaker, Linda; Bishop, D Timothy; Mann, Graham J; Newton-Bishop, Julia A; Puig, Susana

2014-01-01

Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated the prevalence and predictors of these mutations for people from regions with widely differing latitudes and melanoma incidence. Population-based cases and controls from the United Kingdom (1586 cases, 499 controls) and Australia (596 early-onset cases, 476 controls), and a hospital-based series from Spain (747 cases, 109 controls), were screened for variants in all exons of CDKN2A and the p16INK4A binding domain of CDK4. The prevalence of mutations for people with melanoma was similar across regions: 2.3%, 2.5% and 2.0% for Australia, Spain and the United Kingdom respectively. The strongest predictors of carrying a mutation were having multiple primaries (odds ratio (OR) = 5.4, 95% confidence interval (CI: 2.5, 11.6) for 2 primaries and OR = 32.4 (95% CI: 14.7, 71.2) for 3 or more compared with 1 primary only); and family history (OR = 3.8; 95% CI:1.89, 7.5) for 1 affected first- or second-degree relative and OR = 23.2 (95% CI: 11.3, 47.6) for 2 or more compared with no affected relatives). Only 1.1% of melanoma cases with neither a family history nor multiple primaries had mutations. There is a low probability (<2%) of detecting a germline CDKN2A mutation in people with melanoma except for those with a strong family history of melanoma (≥2 affected relatives, 25%), three or more primary melanomas (29%), or more than one primary melanoma who also have other affected relatives (27%).

Informed genome-wide association analysis with family history as a secondary phenotype identifies novel loci of lung cancer.

PubMed

Poirier, Julia G; Brennan, Paul; McKay, James D; Spitz, Margaret R; Bickeböller, Heike; Risch, Angela; Liu, Geoffrey; Le Marchand, Loic; Tworoger, Shelley; McLaughlin, John; Rosenberger, Albert; Heinrich, Joachim; Brüske, Irene; Muley, Thomas; Henderson, Brian E; Wilkens, Lynne R; Zong, Xuchen; Li, Yafang; Hao, Ke; Timens, Wim; Bossé, Yohan; Sin, Don D; Obeidat, Ma'en; Amos, Christopher I; Hung, Rayjean J

2015-03-01

Lung cancer is the leading cause of cancer death worldwide. Although several genetic variants associated with lung cancer have been identified in the past, stringent selection criteria of genome-wide association studies (GWAS) can lead to missed variants. The objective of this study was to uncover missed variants by using the known association between lung cancer and first-degree family history of lung cancer to enrich the variant prioritization for lung cancer susceptibility regions. In this two-stage GWAS study, we first selected a list of variants associated with both lung cancer and family history of lung cancer in four GWAS (3,953 cases, 4,730 controls), then replicated our findings for 30 variants in a meta-analysis of four additional studies (7,510 cases, 7,476 controls). The top ranked genetic variant rs12415204 in chr10q23.33 encoding FFAR4 in the Discovery set was validated in the Replication set with an overall OR of 1.09 (95% CI=1.04, 1.14, P=1.63×10(-4)). When combining the two stages of the study, the strongest association was found in rs1158970 at Ch4p15.2 encoding KCNIP4 with an OR of 0.89 (95% CI=0.85, 0.94, P=9.64×10(-6)). We performed a stratified analysis of rs12415204 and rs1158970 across all eight studies by age, gender, smoking status, and histology, and found consistent results across strata. Four of the 30 replicated variants act as expression quantitative trait loci (eQTL) sites in 1,111 nontumor lung tissues and meet the genome-wide 10% FDR threshold. © 2015 Wiley Periodicals, Inc.

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

PubMed

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.

The constellation of dietary factors in adolescent acne: a semantic connectivity map approach.

PubMed

Grossi, E; Cazzaniga, S; Crotti, S; Naldi, L; Di Landro, A; Ingordo, V; Cusano, F; Atzori, L; Tripodi Cutrì, F; Musumeci, M L; Pezzarossa, E; Bettoli, V; Caproni, M; Bonci, A

2016-01-01

Different lifestyle and dietetic factors have been linked with the onset and severity of acne. To assess the complex interconnection between dietetic variables and acne. This was a reanalysis of data from a case-control study by using a semantic connectivity map approach. 563 subjects, aged 10-24 years, involved in a case-control study of acne between March 2009 and February 2010, were considered in this study. The analysis evaluated the link between a moderate to severe acne and anthropometric variables, family history and dietetic factors. Analyses were conducted by relying on an artificial adaptive system, the Auto Semantic Connectivity Map (AutoCM). The AutoCM map showed that moderate-severe acne was closely associated with family history of acne in first degree relatives, obesity (BMI ≥ 30), and high consumption of milk, in particular skim milk, cheese/yogurt, sweets/cakes, chocolate, and a low consumption of fish, and limited intake of fruits/vegetables. Our analyses confirm the link between several dietetic items and acne. When providing care, dermatologists should also be aware of the complex interconnection between dietetic factors and acne. © 2014 European Academy of Dermatology and Venereology.

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

PubMed

Goldman, Jill S; Hahn, Susan E; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N; Roberts, J Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas

2011-06-01

Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

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

PubMed

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 monogenic disorders.

What Is Adolescence?: Adolescents Narrate Their Lives in Lima, Peru

PubMed Central

Bayer, Angela M.; Gilman, Robert H.; Tsui, Amy O.; Hindin, Michelle J.

2011-01-01

This study explores the lives of Peruvian adolescents in a low-income human settlement outside of Lima. Twenty 12–17 year olds were asked to narrate their own life stories using the life history narrative research method. Holistic content analysis was coupled with a grounded theory approach to explore these data. Intergenerational responsibility, family tensions, economic pressures, racism and violence emerged without prompting and dominated the narrators’ life stories, underscoring the degree to which these adolescents lack access to the supportive individuals and structures that are key to positive adolescent development. The challenges faced by these and the other 5.8 million 10 to 19 year olds in Peru requires increased attention to the role of families, peers and communities in ensuring that adolescents are able to maintain their well-being and achieve their future expectations. PMID:20207410

The jingle-jangle fallacy in adolescent autonomy in the family: in search of an underlying structure.

PubMed

Van Petegem, Stijn; Vansteenkiste, Maarten; Beyers, Wim

2013-07-01

The construct of autonomy has a rich, though quite controversial, history in adolescent psychology. The present investigation aimed to clarify the meaning and measurement of adolescent autonomy in the family. Based on theory and previous research, we examined whether two dimensions would underlie a wide range of autonomy-related measures, using data from two adolescent samples (N = 707, 51 % girls, and N = 783, 59 % girls, age range = 14-21 years). Clear evidence was found for a two-dimensional structure, with the first dimension reflecting "volition versus pressure", that is, the degree to which adolescents experience a sense of volition and choice as opposed to feelings of pressure and coercion in the parent-adolescent relationship. The second dimension reflected "distance versus proximity", which involves the degree of interpersonal distance in the parent-adolescent relationship. Whereas volition related to higher well-being, less problem behavior and a secure attachment style, distance was associated mainly with more problem behavior and an avoidant attachment style. These associations were not moderated by age. The discussion focuses on the meaning of adolescent autonomy and on the broader implications of the current findings.

Family Heritage: History and Folklore.

ERIC Educational Resources Information Center

Long, Susan

1993-01-01

As a means of integrating Appalachian culture and folklore into the curriculum, a fifth-grade social studies unit has students create a personal history book by studying the origin and history of their own name, developing their own memory stories, developing a family tree, studying family artifacts and old photographs, and interviewing family…

Indicators of Adolescent Drug Users in a Clinical Population.

ERIC Educational Resources Information Center

Harrier, Laurie K.; Lambert, Paul L.; Ramos, Vincent

2001-01-01

Analysis indicated a combination of physical abuse, sexual abuse, history of familial drug use, family violence, ethnicity, and a history of familial violence were significant in differentiating substance abusers from non-abusers. A separate analysis indicated that the significant variables grouped among three dimensions: violence, history of…

Suicide Attempts and Family History of Suicide in Three Psychiatric Populations

ERIC Educational Resources Information Center

Tremeau, Fabien; Staner, Luc; Duval, Fabrice; Correa, Humberto; Crocq, Marc-Antoine; Darreye, Angelina; Czobor, Pal; Dessoubrais, Cecile; Macher, Jean-Paul

2005-01-01

The influence of a family history of suicide on suicide attempt rate and characteristics in depression, schizophrenia, and opioid dependence was examined. One hundred sixty inpatients with unipolar depression, 160 inpatients with schizophrenia, and 160 opioid-dependent patients were interviewed. Overall, a family history of suicide was associated…

[Analysis of familial aggregation of ovarian and breast cancer in patients with ovarian cancer].

PubMed

Ichikawa, Y; Nishida, M; Sugita, M; Arisawa, Y; Satoh, T; Oki, A; Kohno, K; Shigemitsu, S; Tsunoda, H; Kubo, T

1995-09-01

In 118 patients with common epithelial ovarian tumors (carcinomas and tumors of borderline malignancy) treated at Tsukuba University Hospital and Tsukuba-Gakuen Hospital, family histories of ovarian and breast cancer were obtained from medical records or in interviews, and familial aggregation of these cancers was examined. 1. A positive family history was found in 10 patients (8.5%). The high incidences of familial ovarian cancer and ovarian cancer in patients who were previously affected with breast cancer were statistically significant. 2. Patients with serous adenocarcinoma showed a significantly greater rate of positive family history than those with mucinous adenocarcinoma. 3. No significant correlation was seen between the clinical stage and a positive family history. 4. Every patient except one with a positive family history had onset of ovarian cancer after menopause. The age at onset for familial ovarian cancer cases was younger than that for the patients' relatives who were affected previously. 5. There were 14 healthy women considered to be at high risk for ovarian cancer among 5 familial ovarian and 2 familial ovarian and breast cancer aggregations. These preliminary findings suggest that screening for early ovarian cancer should be conducted in high risk relatives of familial cancer patients and women affected with breast cancer previously. More detailed studies are needed to define the occurrence of familial or hereditary ovarian and breast cancers in Japan.

Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.

PubMed

Fareed, Mohd; Kaisar Ahmad, Mir; Azeem Anwar, Malik; Afzal, Mohammad

2017-01-01

The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P < 0.05) and higher mortality rates were observed among consanguineous families of all populations in comparison with the non-consanguineous family groups. Moreover, the prenatal and postnatal child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. Our conclusive assessment brings out the deleterious consequence of consanguineous marriages on reproductive outcomes.

Family-oriented cardiac risk estimator: a Java web-based applet.

PubMed

Crouch, Michael A; Jadhav, Ashwin

2003-01-01

We developed a Java applet that calculates four different estimates of a person's 10-year risk for heart attack: (1) Estimate based on Framingham equation (2) Framingham equation estimate modified by C-reactive protein (CRP) level (3) Framingham estimate modified by family history of heart disease in parents or siblings (4) Framingham estimate modified by both CRP and family heart disease history. This web-based, family-oriented cardiac risk estimator uniquely considers family history and CRP while estimating risk.

Decision making in young people at familial risk of depression.

PubMed

Mannie, Z N; Williams, C; Browning, M; Cowen, P J

2015-01-01

Major depression is associated with abnormalities in reward processing at neural and behavioural levels. Neural abnormalities in reward have been described in young people at familial risk of depression but behavioural changes in reward-based decision making have been less studied in this group. We studied 63 young people (mean age 18.9 years) with a parent with a diagnosis of major depression but who had never been depressed themselves, that is with a positive family history of depression (the FH+ group). Participants performed the Cambridge Gambling Task (CGT), which provides several measures of decision making including deliberation time, quality of decision making, risk taking, risk adjustment and delay aversion. A control group of 49 age- and gender-matched young people with no history of mood disorder in a first-degree relative undertook the same task. Both FH+ participants and controls had low and equivalent scores on anxiety and depression self-rating scales. Compared to controls, the FH+ participants showed overall lower risk taking, although like controls they made more risky choices as the odds of a favourable outcome increased. No other measures of decision making differed between the two groups. Young people at increased familial risk of depression have altered risk taking that is not accounted for by current affective symptomatology. Lowered risk taking might represent an impairment in reward seeking, which is one of several changes in reward-based behaviours seen in acutely depressed patients; however, our findings suggest that decreased reward seeking could be part of a risk endophenotype for depression.

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

PubMed

Alejandre, Nicolás; Ruiz-Palacios, Ana; García-Aparicio, Angel M; Blanco-Kelly, Fiona; Bermúdez, Sandra; Fernández-Sanz, Guillermo; Romero, Fredeswinda I; Aróstegui, Juan I; Ayuso, Carmen; Jiménez-Alfaro, Ignacio; Herrero-Beaumont, Gabriel; Sánchez-Pernaute, Olga

2014-06-01

The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation. Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was performed by means of direct sequencing. The proband was admitted during an episode of unilateral anterior uveitis. She had a history of recurrent red eye and had been suffering episodes of skin rash and arthralgia induced by cold since childhood. At examination, she showed a reticulated corneal mid-stroma. Her mother and her younger sister also suffered from relapsing episodes of skin rash and fever triggered by cold as well as flares of red eye. They had developed premature hearing loss. In both cases, opacities in the corneal mid-stroma were evidenced with a slit lamp. The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. Treatment with anakinra resulted in complete remission of flares. In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.

Evolutionary history and stress regulation of plant receptor-like kinase/pelle genes.

PubMed

Lehti-Shiu, Melissa D; Zou, Cheng; Hanada, Kousuke; Shiu, Shin-Han

2009-05-01

Receptor-Like Kinase (RLK)/Pelle genes play roles ranging from growth regulation to defense response, and the dramatic expansion of this family has been postulated to be crucial for plant-specific adaptations. Despite this, little is known about the history of or the factors that contributed to the dramatic expansion of this gene family. In this study, we show that expansion coincided with the establishment of land plants and that RLK/Pelle subfamilies were established early in land plant evolution. The RLK/Pelle family expanded at a significantly higher rate than other kinases, due in large part to expansion of a few subfamilies by tandem duplication. Interestingly, these subfamilies tend to have members with known roles in defense response, suggesting that their rapid expansion was likely a consequence of adaptation to fast-evolving pathogens. Arabidopsis (Arabidopsis thaliana) expression data support the importance of RLK/Pelles in biotic stress response. We found that hundreds of RLK/Pelles are up-regulated by biotic stress. Furthermore, stress responsiveness is correlated with the degree of tandem duplication in RLK/Pelle subfamilies. Our findings suggest a link between stress response and tandem duplication and provide an explanation for why a large proportion of the RLK/Pelle gene family is found in tandem repeats. In addition, our findings provide a useful framework for potentially predicting RLK/Pelle stress functions based on knowledge of expansion pattern and duplication mechanism. Finally, we propose that the detection of highly variable molecular patterns associated with specific pathogens/parasites is the main reason for the up-regulation of hundreds of RLK/Pelles under biotic stress.

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

PubMed

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 (p<0.001) but not in those with a negative family history of AD (p=0.257). Similar to its existing use in the diagnosis of monogenic dyslipidemias such as familial 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.

Major depressive disorder in a family study of obsessive-compulsive disorder with pediatric probands.

PubMed

Hanna, Gregory L; Himle, Joseph A; Hanna, Barbara S; Gold, Katherine J; Gillespie, Brenda W

2011-06-01

This study examined the comorbidity of obsessive-compulsive disorder (OCD) with major depressive disorder (MDD) in a family study of OCD with pediatric probands. This study assessed the lifetime prevalence of MDD in 141 first-degree relatives (FDR) and 452 second-degree relatives (SDR) of pediatric probands with OCD and healthy controls, and identified variables associated with MDD in case FDR. All available FDR were directly interviewed blind to proband status; parents were also interviewed to assess the family psychiatric history of FDR and SDR. Best-estimate diagnoses were made using all sources of information. Data were analyzed with logistic regression and robust Cox regression models. Lifetime MDD prevalence was significantly higher in case than in control FDR (30.4 versus 15.4%). Lifetime MDD prevalence was significantly higher in FDR of case probands with MDD than in FDR of case probands without MDD or control FDR (46.3 versus 19.7 versus 15.4%, respectively). MDD in case FDR was significantly associated with MDD in case probands and with age and OCD in those relatives. Lifetime MDD prevalence was similar in case and control SDR. However, lifetime MDD prevalence was significantly higher in SDR of case probands with MDD than in SDR of case probands without MDD or control SDR (31.9 versus 16.8 versus 15.4%, respectively). MDD prevalence was significantly higher in both FDR and SDR of case probands with MDD than in relatives of case probands without MDD or control relatives, suggesting that pediatric OCD comorbid with MDD is a complex familial syndrome. © 2011 Wiley-Liss, Inc.

The current state of cancer family history collection tools in primary care: a systematic review.

PubMed

Qureshi, Nadeem; Carroll, June C; Wilson, Brenda; Santaguida, Pasqualina; Allanson, Judith; Brouwers, Melissa; Raina, Parminder

2009-07-01

Systematic collection of family history is a prerequisite for identifying genetic risk. This study reviewed tools applicable to the primary care assessment of family history of breast, colorectal, ovarian, and prostate cancer. MEDLINE, EMBASE, CINAHL, and Cochrane Central were searched for publications. All primary study designs were included. Characteristics of the studies, the family history collection tools, and the setting were evaluated. Of 40 eligible studies, 18 relevant family history tools were identified, with 11 developed for use in primary care. Most collected information on more than one cancer and on affected relatives used self-administered questionnaires and paper-based formats. Eleven tools had been evaluated relative to current practice, demonstrating 46-78% improvement in data recording over family history recording in patient charts and 75-100% agreement with structured genetic interviews. Few tools have been developed specifically for primary care settings. The few that have been evaluated performed well. The very limited evidence, which depends in part on extrapolation from studies in settings other than primary care, suggests that systematic tools may add significant family health information compared with current primary care practice. The effect of their use on health outcomes has not been evaluated.

Familial associations between polycystic ovarian syndrome and common diseases.

PubMed

Moini, Ashraf; Eslami, Bita

2009-03-01

The goal of this study was focused on two subjects. First, to determine possible association between PCOS and family history of breast cancer, ovarian cancer, endometrial cancer, heart attack, thrombosis, diabetes and cardiovascular disease (CVD). Second, to evaluate maternal and paternal transmission in PCOS patients with positive family history of a disease. A cross-sectional study was conducted in 549 infertile women (273 with PCOS and 276 controls) in Arash hospital of Tehran, Iran, between 2007 and 2008 by using questionnaire. In this analysis, there were significantly increased number of women with the positive family history of diabetes among PCOS group (28.21% vs. 19.20%, p=0.01). Meanwhile, four women in PCOS group had self history of diabetes while no one in the control group reported diabetes. A statistically significant positive family history of breast cancer was found among the control group (4.35% vs. 1.30%, p=0.02). Endometrial cancer and diabetes were observed in mother or mother's side of the family but heart attack and thrombosis manifested in father or father's side of the family more. There were no statistically significant differences in a positive individual or family history of ovarian cancer, endometrial cancer, heart attack, thrombosis and CVD between the two groups. In the present study, women and their relatives with PCOS had an increased prevalence of diabetes and it is more common in mother's side of the family.

Autosomal-dominant familial angiolipomatosis.

PubMed

Garib, George; Siegal, Gene P; Andea, Aleodor A

2015-01-01

Angiolipomas are among the most common benign soft-tissue tumors and usually present as solitary nodules; however, angiolipomas also may present as multiple subcutaneous nodules, typically on the arms and trunk of young men. Although multiple angiolipomas most often occur sporadically, a family history can be identified in a minority of cases. Familial angiolipomatosis is a rare condition with an autosomal-recessive transmission pattern that is characterized by multiple subcutaneous tumors and a family history of similar lesions, which are not associated with malignant neoplasms. We report a case of familial angiolipomatosis with an unusual autosomal-dominant transmission pattern. Our patient presented with multiple angiolipomas that were highly suggestive of familial angiolipomatosis transmitted in an autosomal-dominant fashion, as he had several family members with a history of similar fatty tumors. Autosomal-dominant familial angiolipomatosis may be misdiagnosed as neurofibromatosis type I. Therefore, in cases of multiple subcutaneous tumors and a family history of similar lesions, histologic examination is important to establish the correct diagnosis.

Through Black and Brown Eyes, as Well as Blue: American History from Students' Perspectives.

ERIC Educational Resources Information Center

Toman, Susan

1995-01-01

Describes a U.S. history survey course that incorporates cultural pluralism and family histories into the writing assignments. Students are encouraged to write about events that occurred in their families during the time periods being studied. Oral interviews and family documents supplement traditional research tools and secondary sources. (MJP)

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

ERIC Educational Resources Information Center

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…

Lung Cancer in Women with a Family History of Cancer: The Spanish Female-specific Database WORLD07.

PubMed

Isla, Dolores; Felip, Enriqueta; Viñolas, Nuria; Provencio, Mariano; Majem, Margarita; Artal, Angel; Bover, Isabel; Lianes, Pilar; DE Las Peñas, Ramón; Catot, Silvia; DE Castro, Javier; Blasco, Ana; Terrasa, Josefa; Gonzalez-Larriba, José Luis; Juan, Oscar; Dómine, Manuel; Bernabe, Reyes; Garrido, Pilar

2016-12-01

The WORLD07 project is a female-specific database to prospectively analyze the characteristics of Spanish women with lung cancer. We analyzed and compared lung cancer features in women with and without a family history of cancer/lung cancer. Two thousand and sixty women were included: 876 had a family history of cancer (lung cancer, 34%) and 886 did not, with no significant differences between groups, except for smoking status (p=0.036). We found statistically significant correlations between epidermal growth factor receptor (EGFR) mutation and smoking status in patients with a family history of cancer (r=-0.211; p<0.001) and lung cancer (r=-0.176; p<0.001). Longer median overall survival was observed in women with a family history of cancer and lung cancer. Among Spanish women with lung cancer, a greater proportion were current smokers in those with a family history of cancer/lung cancer. There was a significant correlation between the presence of EGFR mutation and smoking. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Family history of venous thromboembolism and risk of hospitalized thromboembolism in cancer patients: A nationwide family study.

PubMed

Zöller, Bengt; Palmer, Karolina; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina

2015-09-01

The importance of family history of venous thromboembolism (VTE) in cancer patients is unclear. We conducted a nationwide study to determine whether family history of VTE is a risk factor for hospitalized VTE in cancer patients. The Swedish Multi-Generation Register was linked to the Swedish Hospital Discharge Register and the Swedish Cancer Registry. Familial (sibling/parent history of VTE) hazard ratios (HRs) for VTE in 20 cancer types were determined by cause-specific Cox regression for 258877 cancer patients in 1987-2010 without previous VTE. Familial HRs were also determined in 7644203 individuals without cancer or VTE before 1987, with follow-up in 1987-2010. Significant familial HRs for VTE in cancer patients were observed for the following cancer types: cancers of the breast (HR=1.79), lung (HR=1.21), colon (HR=1.30), prostate (HR=1.46), testis (HR=2.02), nervous system (HR=1.31), stomach (HR=1.73), and rectum (HR=1.77), as well as melanoma (HR=1.71), non-Hodgkin lymphoma (HR=1.32), myeloma (HR=1.69), and leukemia (HR=1.44). In a time-dependent analysis the familial HRs for VTE were significant before diagnosis of cancer (p-values <0.0001). After diagnosis of cancer the familial HRs VTE were weaker, with significant HRs for 12 cancer types. On an additive scale, the joint effect of cancer and family history was significantly increased compared to separate effects in four cancer types. However, for certain cancers the familial VTE cases were limited. Family history of VTE is a risk factor for VTE in several cancer types. However, familial factors are relatively more important in non-cancer than in cancer patients. Copyright © 2015 Elsevier Ltd. All rights reserved.

Gastrointestinal cancer risk in patients with a family history of gastrointestinal cancer.

PubMed

Chung, Joo Won; Park, Jae Jun; Lim, Yun Jeong; Lee, Jun; Kim, Sun Moon; Han, Joung Ho; Jeon, Seong Ran; Lee, Hong Sub; Kim, Yong Sung; Song, Si Young

2018-06-25

This study was performed to evaluate the relationship between family history of gastrointestinal (GI) cancers and incidence of any GI cancer in the Korean population. Between January 2015 and July 2016, 711 GI cancer patients and 849 controls in 16 hospitals in Korea were enrolled. Personal medical histories, life styles, and family history of GI cancers were collected via questionnaire. There was a significant difference in the incidence of family history of GI cancer between GI cancer patients and controls (p=0.002). Patients with family history of GI cancer tended to be diagnosed as GI cancer at younger age than those without family history (p=0.016). The family members of GI cancer patients who were diagnosed before 50 years of age were more frequently diagnosed as GI cancer before the age of 50 years (p=0.017). After adjusting for major confounding factors, age (adjusted odds ratio [AOR] 1.065, 95% confidence interval [CI]; 1.053-1.076), male gender (AOR 2.270, 95% CI; 1.618-3.184), smoking (AOR 1.570, 95% CI; 1.130-2.182), and sibling's history of GI cancer (AOR 1.973, 95% CI; 1.246-3.126) remained independently associated with GI cancers. GI cancer patients tended to have a first relative with a history of concordant GI cancer. Personal factors (old age and male) and lifestyle (smoking) contribute to the development of GI cancer, independently. Individuals with high risk for GI cancers may be advised to undergo screening at an earlier age.

Family Health Histories and Their Impact on Retirement Confidence.

PubMed

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.

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

PubMed

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.

Administrative Data to Explore the Role of Family History as a Risk Factor for Herpes Zoster.

PubMed

Harpaz, Rafael; Dahl, Rebecca M

2018-06-01

We used administrative data to study the impact of family history on the risk of herpes zoster (HZ). Our HZ cases and our HZ family history were both ascertained on the basis of medically attended diagnoses, without reliance on self-report or recall bias. Family history was associated with HZ risk among both siblings and parents. The strength of the association differed when the index child was latently infected with vaccine-strain vs wild-type varicella zoster virus. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Impact of Family History of Substance Abuse on Admission Opioid Dose, Depressive Symptoms, and Pain Catastrophizing in Patients with Chronic Pain.

PubMed

Pestka, Elizabeth L; Craner, Julia; Evans, Michele; Nash, Virginia; Kimondo, Njoki; Pestka, Deborah; Loukianova, Larissa; Sperry, Jeannie

2018-04-01

The objectives of this study were to examine association between a family history of substance abuse and admission morphine equivalent dose, depression and pain catastrophizing screening scores, as well as reported personal history of substance use. The retrospective research was completed in an interdisciplinary three-week pain rehabilitation center. The subject cohort included admissions from January through December 2014 with 351 datasets for family history of substance abuse and oral morphine equivalency and 341 for depression, pain catastrophizing and use of substances. Outcome measures included admission self-reported data on family history of substance abuse and past and current substance use, admission morphine equivalency dose, and scores on the Center for Epidemiologic Studies-Depression Scale and the Pain Catastrophizing Scale. One hundred forty-seven patients were using opioid medications on admission and those with a positive family history of substance abuse had an oral morphine equivalency (M = 92.12, SD = 95.32) compared to a negative history (M = 80.34, SD = 64.86); the difference was not statistically significant, t (120.01) =.87, p = .39. Patients with a positive family history reported higher levels of both depression, t (327.40) = 3.15, p = .002 and pain catastrophizing, t (338) = 2.76, p = .01. Those with a positive family history endorsed greater frequency of past alcohol use χ 2 (1, N = 326) = 6.67, p = 0.1 and marijuana use χ 2 (1, N = 341) = 4.23, p = .04 and past χ 2 (1, N = 329) = 9.90, p = .002 and current tobacco use χ 2  (1, N = 327) = 8.81, p = .003. Use of family history of substance abuse information may help provide data for multimodal treatments of chronic non-cancer-pain. The findings from this study can be used to guide future research. Copyright © 2017 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

The Impact of Youth and Family Risk Factors on Service Recommendations and Delivery in a School-Based System of Care

PubMed Central

Whitson, Melissa L.; Connell, Christian M.; Bernard, Stanley; Kaufman, Joy S.

2010-01-01

The present study examines the impact of child and family risk factors on service access for youth and families in a school-based system of care. Regression analyses examined the relationships between risk factors and services recommended, services received, and dosage of services received. Logistic regression analyses examined the relationship between risk factors and whether or not youth received specific types of services within the system of care. Results revealed that youth with a personal or family history of substance use had more services recommended than youth without these risk factors, while youth with a family history of substance use received more services. Youth with a history of substance use received a significantly higher dosage of services overall. Finally, history of family mental illness was associated with receiving mental health and operational services (e.g., family advocacy, emergency funds). Implications and limitations are discussed. PMID:20165927

Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.

PubMed

Kravochuck, Sara E; Church, James M

2017-12-01

Hereditary non-polyposis colorectal cancer (HNPCC) is defined by family history, and Lynch syndrome (LS) is defined genetically. However, universal tumour testing is now increasingly used to screen for patients with defective mismatch repair. This mixing of the results of family history, tumour testing and germline testing produces multiple permutations and combinations that can foster confusion. We wanted to clarify hereditary colorectal cancer using the three dimensions of classification: family history, tumour testing and germline testing. Family history (Amsterdam I or II criteria versus not Amsterdam criteria) was used to define patients and families with HNPCC. Tumour testing and germline testing were then performed to sub-classify patients and families. The permutations of these classifications are applied to our registry. There were 234 HNPCC families: 129 had LS of which 55 were three-dimensional Lynch (family history, tumour testing and germline testing), 66 were two-dimensional Lynch and eight were one-dimensional Lynch. A total of 10 families had tumour Lynch (tumours with microsatellite instability or loss of expression of a mismatch repair protein but an Amsterdam-negative family and negative germline testing), five were Lynch like (Amsterdam-positive family, tumours with microsatellite instability or loss of expression of a mismatch repair protein on immunohistochemistry but negative germline testing), 26 were familial colorectal cancer type X and 95 were HNPCC. Hereditary colorectal cancer can be confusing. Sorting families in three dimensions can clarify the confusion and may direct further testing and, ultimately, surveillance. © 2016 Royal Australasian College of Surgeons.

Digital Family Histories for Data Mining

PubMed Central

Hoyt, Robert; Linnville, Steven; Chung, Hui-Min; Hutfless, Brent; Rice, Courtney

2013-01-01

As we move closer to ubiquitous electronic health records (EHRs), genetic, familial, and clinical information will need to be incorporated into EHRs as structured data that can be used for data mining and clinical decision support. While the Human Genome Project has produced new and exciting genomic data, the cost to sequence the human personal genome is high, and significant controversies regarding how to interpret genomic data exist. Many experts feel that the family history is a surrogate marker for genetic information and should be part of any paper-based or electronic health record. A digital family history is now part of the Meaningful Use Stage 2 menu objectives for EHR reimbursement, projected for 2014. In this study, a secure online family history questionnaire was designed to collect data on a unique cohort of Vietnam-era repatriated male veterans and a comparison group in order to compare participant and family disease rates on common medical disorders with a genetic component. This article describes our approach to create the digital questionnaire and the results of analyzing family history data on 319 male participants. PMID:24159269

Digital family histories for data mining.

PubMed

Hoyt, Robert; Linnville, Steven; Chung, Hui-Min; Hutfless, Brent; Rice, Courtney

2013-01-01

As we move closer to ubiquitous electronic health records (EHRs), genetic, familial, and clinical information will need to be incorporated into EHRs as structured data that can be used for data mining and clinical decision support. While the Human Genome Project has produced new and exciting genomic data, the cost to sequence the human personal genome is high, and significant controversies regarding how to interpret genomic data exist. Many experts feel that the family history is a surrogate marker for genetic information and should be part of any paper-based or electronic health record. A digital family history is now part of the Meaningful Use Stage 2 menu objectives for EHR reimbursement, projected for 2014. In this study, a secure online family history questionnaire was designed to collect data on a unique cohort of Vietnam-era repatriated male veterans and a comparison group in order to compare participant and family disease rates on common medical disorders with a genetic component. This article describes our approach to create the digital questionnaire and the results of analyzing family history data on 319 male participants.

Familial trends in a population with macular holes.

PubMed

Kay, Christine Nichols; Pavan, Peter Reed; Small, Laurie Buccina; Zhang, Tao; Zamba, Gideon K D; Cohen, Steven Myles

2012-04-01

To determine if patients with macular hole report an increased family history of macular hole compared with control patients and compare the report of family history between patients with unilateral and bilateral macular holes. This was a multicenter case-control study. Charts of patients coded with diagnosis of macular hole were reviewed, and the diagnosis of idiopathic full-thickness macular hole was ascertained in 166 patients. The control group comprised 136 patients without macular hole or trauma who presented with senile cataract. Family history was obtained from all patients through a telephone interview. Six of 166 (3.6%) macular hole patients surveyed reported a history of macular hole in a primary relative compared with none of 136 (0.0%) control patients (odds ratio is infinity, with 95% confidence interval 1.295 to infinity); however, this finding may be explained by confounders such as age and number of family members. Two of the 142 (1.4%) patients with unilateral holes versus 4 of the 24 (16.7%) patients with bilateral holes reported a family history (odds ratio is 0.0714, with 95% confidence interval 0.0063 to 0.5537), and this finding remains significant when logistic regression is performed to evaluate variables of age and number of family members as potential confounders. There is an increased report of familial occurrence of macular hole in patients with macular holes compared with control patients; however, logistic regression relates this finding to variables of age and number of family members. Patients with bilateral macular holes are more likely to report a family history of macular hole than patients with unilateral macular holes, and this finding remains significant in the presence of age and number of family members. These findings may suggest a familial component to macular hole.

[A historical medical study of post-traumatic stress disorders in World War I soldiers].

PubMed

Lemke, S

2007-01-01

The concept of post-traumatic stress disorder (PTSD) was to be verified considering World War I soldiers suffering from psychiatric and neurologic diseases. According to hypotheses, relevant circumstances of the case history and significance of the direct military action had to be examined. In 2002, medical histories dating from 1914 to 1921 of male soldiers in Jena, Germany, were analyzed. Statistical examination carried out by means of the chi2 test revealed mental illness more frequently in soldiers with relevant family anamnesis, previous psychiatric treatment, or degree of voluntariness than in soldiers not so characterized. The accumulation of mental illnesses was lower in soldiers involved in military actions or directly with firing weapons than in soldiers never involved in battles. These results are in accord with historical but not current literature on PTSD. The author is of the opinion that psychiatric anamnesis is not given enough consideration in the concept of PTSD.

Using Family Health History for Chronic Disease Prevention in the Age of Genomics: Translation to Health Education Practice

ERIC Educational Resources Information Center

Hanson, Carl; Novilla, Lelinneth; Barnes, Michael; De La Cruz, Natalie; Meacham, Aaron

2007-01-01

Advances in the field of human genomics have important implications for the prevention of chronic disease. In response to these advancements, public health professionals--including health educators--must become competent in the principles underlying the interface between genomics and the use of family health history. Family health history captures…

Correlates of Family Health History Discussions between College Students and Physicians: Does Family Cancer History Make a Difference?

ERIC Educational Resources Information Center

Smith, Matthew Lee; Sosa, Erica T.; Hochhalter, Angela K.; Covin, Julie; Ory, Marcia G.; McKyer, E. Lisako J.

2011-01-01

Effective communication between young adults and their healthcare providers can contribute to early detection of risk for developing cancer and establishment of lifelong habits for engagement in healthcare and health promotion behaviors. Our objectives were to examine factors influencing family health history discussions between college students…

Idiopathic generalized epilepsies with pure grand mal: clinical data and genetics.

PubMed

Unterberger, I; Trinka, E; Luef, G; Bauer, G

2001-04-01

To analyze the clinical features and family history of patients with idiopathic generalized epilepsy (IGE), with pure grand mal (GM), divided into epilepsies with GM occurring exclusively on awakening (GMA) and random GM (RGM). We studied retrospectively 98 patients from a large epilepsy outpatient clinic. All patients had a full clinical examination and computed cerebral tomography scans (CCT) or magnetic resonance imaging (MRI) when feasible. We analyzed seizure type, seizure frequency, provocative factors, prognosis, electroencephalography (EEG) findings and family history. Sixty-eight patients had GMA and 30 had RGM. The mean age at seizure onset was 16.6 years (+/-6.3 S.D., range: 5-41) and 16.7 years in those with RGM (+/-7.5 S.D., range: 4-42, NSD). Patients with GMA had a longer course of active epilepsy (median 8.5 years) compared to RGM (median 2 years). Seizure-provoking factors, especially sleep deprivation, were significantly (P=0.001) more common in patients with GMA (52/68, 77%) than in the group with RGM (13/30, 43%). Of all patients, 23% (23/98) reported first degree relatives with seizures or epilepsy. Pure GM was found in 41% (12/29) of affected first degree relatives, other idiopathic generalized epilepsy syndromes were less frequently observed (4/29, 14%). The concordance rate was high within the syndrome - none of the patients with RGM had an affected relative with GMA and vice versa only two of affected relatives of GMA patients had RGM. GMA seems to be associated with a longer duration of active epilepsy, a higher relapse rate and a stronger tendency to be precipitated by seizure provoking factors. The different concordance rates between the syndromes suggest a genetically different background.

Prevalence of any size adenomas and advanced adenomas in 40- to 49-year-old individuals undergoing screening colonoscopy because of a family history of colorectal carcinoma in a first-degree relative.

PubMed

Gupta, Akshay K; Samadder, Jewel; Elliott, Eric; Sethi, Saurabh; Schoenfeld, Philip

2011-07-01

Per current guidelines, patients with a first-degree relative (FDR) with colorectal cancer (CRC) should get screened at least at age 40. Data about the prevalence of adenomas and advanced adenomas (AAs) in these patients are lacking. To examine the prevalence of adenomas and AAs in 40- to 49-year-old individuals undergoing screening colonoscopy for family history of CRC. Retrospective chart review. Asymptomatic patients 40 to 49 years of age undergoing their first screening colonoscopy at the University of Michigan during the period 1999 to 2009 because of an FDR with CRC. Prevalence of adenomas (any size), AAs, and risk factors associated with adenomas. Among 640 study patients, the prevalence of adenomas (any size) was 15.4% and 3.3% for AAs. Adenoma prevalence was lower if the FDR with CRC was younger than 60 years of age versus an FDR with CRC older than 60 years of age (12.4% vs 19%, P = .034). Male sex (odds ratio 2.6; 95% CI, 1.06-4.4) and advancing age (odds ratio 1.16; 95% CI, 1.03-1.31) were associated with adenomas. Limited data on risk factor exposure and insufficient sample size to assess risk factors for AAs. Among 40- to 49-year-old patients undergoing screening colonoscopy because of an FDR with CRC, the prevalence of adenomas and AAs is low. Further research should determine whether these individuals have a higher prevalence of adenomas compared with average-risk individuals. Copyright © 2011 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

Familial history of cancer and leukemia in children younger than 2 years of age in Brazil.

PubMed

Couto, Arnaldo C; Ferreira, Jeniffer D; Koifman, Sérgio; Pombo-de-Oliveira, Maria S

2013-03-01

The objective of this study was to determine the contribution of a familial history of cancer (FHC) to the development of leukemia in children below 2 years of age. This is a national hospital-based case-control study of children 0-24 months of age recruited from 15 Brazilian hospitals from several regions providing oncological care and local general hospitals. Participants' FHC antecedents were obtained through face-to-face interviews with the mothers of cases and controls using a standardized questionnaire. Unconditional logistic regression was used to determine crude and adjusted (adj.) odds ratios (OR), and the respective 95% confidence intervals (CI), of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) after adjustment for selected variables. FHC antecedents were obtained from 178 ALL, 51 AML, and 428 controls. FHC in second-degree relatives (grandparents, uncles, cousins) showed an adj. OR=1.66 (95% CI 1.12-2.45) for ALL. Antecedents of two or more relatives with cancer showed a statistically significant two-fold higher risk of either ALL or AML. Paternal, and joint paternal and maternal antecedents of cancer also showed statistically significant higher adj. OR, respectively: 1.80 and 1.89 for ALL, and 2.34 and 3.23 for AML. Hematological malignancies among second-degree relatives showed an adj. OR=3.48 (95% CI 1.72-7.09) for ALL. According to the anatomic site, antecedents of leukemia/lymphoma among case relatives, compared with the control ones, showed an OR=2.98 (95% CI 1.52-5.82) for ALL, whereas stomach cancer antecedents showed an OR=3.55 (95% CI 1.02-12.39) for AML. The observed results support the hypothesis that FHC antecedents are associated with leukemogenesis in children below 2 years of age.

Is negative self-referent bias an endophenotype for depression? An fMRI study of emotional self-referent words in twins at high vs. low risk of depression.

PubMed

Miskowiak, K W; Larsen, J E; Harmer, C J; Siebner, H R; Kessing, L V; Macoveanu, J; Vinberg, M

2018-01-15

Negative cognitive bias and aberrant neural processing of self-referent emotional words seem to be trait-marks of depression. However, it is unclear whether these neurocognitive changes are present in unaffected first-degree relatives and constitute an illness endophenotype. Fifty-three healthy, never-depressed monozygotic or dizygotic twins with a co-twin history of depression (high-risk group: n = 26) or no first-degree family history of depression (low-risk group: n = 27) underwent neurocognitive testing and functional magnetic imaging (fMRI) as part of a follow-up cohort study. Participants performed a self-referent emotional word categorisation task and free word recall task followed by a recognition task during fMRI. Participants also completed questionnaires assessing mood, personality traits and coping strategies. High-risk and low-risk twins (age, mean ± SD: 40 ± 11) were well-balanced for demographic variables, mood, coping and neuroticism. High-risk twins showed lower accuracy during self-referent categorisation of emotional words independent of valence and more false recollections of negative words than low-risk twins during free recall. Functional MRI yielded no differences between high-risk and low-risk twins in retrieval-specific neural activity for positive or negative words or during the recognition of negative versus positive words within the hippocampus or prefrontal cortex. The subtle display of negative recall bias is consistent with the hypothesis that self-referent negative memory bias is an endophenotype for depression. High-risk twins' lower categorisation accuracy adds to the evidence for valence-independent cognitive deficits in individuals at familial risk for depression. Copyright © 2017 Elsevier B.V. All rights reserved.

Upper respiratory tract infection in children, domestic temperatures, and humidity.

PubMed Central

Ross, A; Collins, M; Sanders, C

1990-01-01

STUDY OBJECTIVE--The aim of the study was to seek for a possible association between the incidence of upper respiratory tract infections and air temperature and humidity in the home. DESIGN--Recordings of temperature and relative humidity were made in living rooms and children's bedrooms over a six month period and related to incidence of upper respiratory tract infection. SETTING--The study was carried out in one general practice of 10,000 patients. PATIENTS--297 children aged 24-59 months were studied, selected in random order from the practice age-sex register. MEASUREMENTS AND MAIN RESULTS--Temperature and humidity recordings were made with thermohygrograph recorders over six days. Upper respiratory tract infections were recorded (a) retrospectively over the previous 12 months, and (b) during the study period. Past history of acute otitis media and recent family history of respiratory infection were also obtained. No significant association was found between the variables, although the bedrooms of children with reported upper respiratory tract infections were cooler overnight than those of non-infected children (mean difference 0.8 degrees C, 95% confidence limits 0.7 degrees C). No association was found between reported or recorded upper respiratory tract infections and age or type of home, family size, level of occupancy, social class, or smoking habits. Only 15 children (5%) were identified by their parents as having had asthma, but 58 (19.5%) had had a "wheezy chest". A greater proportion of children who wheezed slept in cooler bedrooms, had gas fires rather than central heating, and had more smokers in the house. CONCLUSIONS--No association between upper respiratory tract infection and domestic temperature or humidity levels could be shown in this study. Since dampness is repeatedly presented as a health risk, further study is required. PMID:2370503

Clinical impact of women with gestational diabetes mellitus by the new consensus criteria: two year experience in a single institution in Japan.

PubMed

Ikenoue, Satoru; Miyakoshi, Kei; Saisho, Yoshifumi; Sakai, Kensuke; Kasuga, Yoshifumi; Fukutake, Marie; Izumi, Yoko; Matsumoto, Tadashi; Minegishi, Kazuhiro; Yoshimura, Yasunori

2014-01-01

There is a paucity of information on perinatal data regarding gestational diabetes mellitus (GDM) by the new criteria from a real experience because the number of health care associations implementing the new criteria is still limited. The aim of this study is to investigate perinatal features of the new criteria-defined GDM. We reviewed a total of 995 women with singleton pregnancy that underwent GDM screening followed by a diagnostic oral glucose tolerance test (OGTT). All women found to have GDM underwent self-monitoring of blood glucose measurements as well as dietary management. Insulin treatment was initiated when dietary treatment did not achieve the glycemic goal. Of the 995 women, 141 had GDM (14.2%): 104 with one, 27 with two, and 10 with three abnormal OGTT values. Women with two or three abnormal OGTT values (2/3-AV) needed insulin treatment more frequently than those with one abnormal OGTT value (1-AV) (70.3% vs 23.1%, P < 0.0001). After adjustment for age, pregravid overweight, gestational weeks at diagnosis, a first-degree family history of diabetes was correlated with the implementation of insulin treatment in women with 1-AV (adjusted odds ratio 3.9; 95% Confidence Interval 1.7-9.2; P = 0.001). When compared perinatal outcomes between women with normal glucose tolerance and GDM, fetal growth and the occurrence of pregnancy-induced hypertension were comparable between the two groups. Our data suggest that the IADPSG-defined GDM with 1-AV show less severe glucose intolerance, but might be at risk of insulin requirement when a first-degree family history of diabetes exists.

Pitfalls in training simulated patients to respond appropriately to questions from medical students in family history-taking activities: the current situation surrounding the training of simulated patients for learning activities at Nippon Medical School.

PubMed

Aso, Ryoko; Inoue, Chikako; Yoshimura, Akinobu; Shimura, Toshiro

2013-01-01

Our goal was to train simulated patients (SPs) to respond appropriately to questions about family history from medical students in simulated medical interviews. To this end, we carried out a survey of 91 SPs and 76 4th-year medical students to investigate their notions of what constitutes a family. All of the SPs and students surveyed deemed parents and children living together to be members of a family. In a situation where one spouse's parents live together with the basic family unit, 93% of the SPs considered them to be members of the family, whereas only 79% of the students did. Married children living apart from their parents were considered members of the family by 18% of the SPs and 39% of the students. These results indicate clear differences between the SPs and students in their notions of the family. To verify the level of understanding of the definitions of family and blood relatives in particular scenarios used in simulated medical interviews, we administered a written test to 14 SPs who were training to assist in the nationwide common achievement test in medicine, the Objective Structured Clinical Examination (OSCE). The overall score of the SPs was 93.5%; the incorrect answers were "a sibling is not a blood relative" and "a spouse is a blood relative." We analyzed the performance of these 14 SPs in medical interviews carried out after training for the OSCE, in which they were asked questions that required them to reveal their understanding of blood relatives, cohabiting relatives, and the family. All of the SPs responded appropriately to the students' questions about family history. After the OSCE, we asked the SPs to assess themselves on how well they had given their family histories and to evaluate the usefulness of the SP training they had received. Their mean self-assessment score on providing a family history was 3.6 (scale: 1-4); on the usefulness of training, it was 3.4 (scale: 1-4). In conclusion, training SPs to respond appropriately to questions about family history in medical interviews is very important. Medical students have to learn how to take family histories accurately, so SP trainers should pay attention to training SPs in giving appropriate responses to students' questions, bearing in mind the differences between family history taking and everyday conversations about the family.

Prematurity Affects Age of Presentation of Pyloric Stenosis.

PubMed

Costanzo, Caitlyn M; Vinocur, Charles; Berman, Loren

2017-02-01

Term infants with hypertrophic pyloric stenosis (HPS) typically present between 4 and 6 weeks. There is limited consensus, however, regarding age of presentation of premature infants. We aim to determine if there is an association between the degree of prematurity and chronological age of presentation of HPS. A total of 2988 infants who had undergone a pyloromyotomy for HPS were identified from the 2012 and 2013 NSQIP-P Participant Use Files. Two hundred seventeen infants (7.3%) were born prematurely. A greater degree of prematurity was associated with an older chronological age of presentation ( P < .0001). Prematurity was significantly associated with an increase in overall postoperative morbidity, reintubation, readmission, and postoperative length of stay. When clinicians evaluate an infant with nonbilious emesis with a history of prematurity, they should consider pyloric stenosis if the calculated postconceptional age is between 44 and 50 weeks. When counseling families of premature infants, surgeons should discuss the increased incidence of postpyloromyotomy morbidity.

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

PubMed

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 1.01-3.9 in men with than without a paternal history). Findings from this study are important in the identification of individuals whose auditory system may be genetically susceptible to aging and environmental insult. Genetic counseling may assist in ameliorating the effects of hearing loss.

Significance of a positive family history for coronary heart disease in patients with a zero coronary artery calcium score (from the Multi-Ethnic Study of Atherosclerosis).

PubMed

Cohen, Randy; Budoff, Matthew; McClelland, Robyn L; Sillau, Stefan; Burke, Gregory; Blaha, Michael; Szklo, Moyses; Uretsky, Seth; Rozanski, Alan; Shea, Steven

2014-10-15

Although a coronary artery calcium (CAC) score of 0 is associated with a very low 10-year risk for cardiac events, this risk is nonzero. Subjects with a family history of coronary heart disease (CHD) has been associated with more subclinical atherosclerosis than subjects without a family history of CHD. The purpose of this study was to assess the significance of a family history for CHD in subjects with a CAC score of 0. The Multi-Ethnic Study of Atherosclerosis cohort includes 6,814 participants free of clinical cardiovascular disease (CVD) at baseline. Positive family history was defined as reporting a parent, sibling, or child who had a heart attack. Time to incident CHD or CVD event was modeled using the multivariable Cox regression; 3,185 subjects were identified from the original Multi-Ethnic Study of Atherosclerosis cohort as having a baseline CAC score of 0 (mean age 58 years, 37% men). Over a median follow-up of 10 years, 101 participants (3.2%) had CVD events and 56 (1.8%) had CHD events. In age- and gender-adjusted analyses, a family history of CHD was associated with an ∼70% increase in CVD (hazard ratio 1.73, 95% confidence interval 1.17 to 2.56) and CHD (hazard ratio 1.72, 95% confidence interval 1.01 to 2.91) events. CVD events remained significant after further adjustment for ethnicity, risk factors, and baseline medication use. In conclusion, asymptomatic subjects with a 0 CAC score and a positive family history of CHD are at increased risk for CVD and CHD events compared with those without a family history of CHD, although absolute event rates remain low. Copyright © 2014 Elsevier Inc. All rights reserved.

Risk of Advanced Neoplasia in First-Degree Relatives with Colorectal Cancer: A Large Multicenter Cross-Sectional Study

PubMed Central

Quintero, Enrique; Gargallo, Carla; Lanas, Angel; Bujanda, Luis; Gimeno-García, Antonio Z.; Hernández-Guerra, Manuel; Nicolás-Pérez, David; Alonso-Abreu, Inmaculada; Morillas, Juan Diego; Balaguer, Francesc; Muriel, Alfonso

2016-01-01

Background First-degree relatives (FDR) of patients with colorectal cancer have a higher risk of developing colorectal cancer than the general population. For this reason, screening guidelines recommend colonoscopy every 5 or 10 y, starting at the age of 40, depending on whether colorectal cancer in the index-case is diagnosed at <60 or ≥60 y, respectively. However, studies on the risk of neoplastic lesions are inconclusive. The aim of this study was to determine the risk of advanced neoplasia (three or more non-advanced adenomas, advanced adenoma, or invasive cancer) in FDR of patients with colorectal cancer compared to average-risk individuals (i.e., asymptomatic adults 50 to 69 y of age with no family history of colorectal cancer). Methods and Findings This cross-sectional analysis includes data from 8,498 individuals undergoing their first lifetime screening colonoscopy between 2006 and 2012 at six Spanish tertiary hospitals. Of these individuals, 3,015 were defined as asymptomatic FDR of patients with colorectal cancer (“familial-risk group”) and 3,038 as asymptomatic with average-risk for colorectal cancer (“average-risk group”). The familial-risk group was stratified as one FDR, with one family member diagnosed with colorectal cancer at ≥60 y (n = 1,884) or at <60 y (n = 831), and as two FDR, with two family members diagnosed with colorectal cancer at any age (n = 300). Multiple logistic regression analysis was used for between-group comparisons after adjusting for potential confounders (age, gender, and center). Compared with the average-risk group, advanced neoplasia was significantly more prevalent in individuals having two FDR with colorectal cancer (odds ratio [OR] 1.90; 95% confidence interval [CI] 1.36–2.66, p < 0.001), but not in those having one FDR with colorectal cancer diagnosed at ≥60 y (OR 1.03; 95% CI 0.83–1.27, p = 0.77) and <60 y (OR 1.19; 95% CI 0.90–1.58, p = 0.20). After the age of 50 y, men developed advanced neoplasia over two times more frequently than women and advanced neoplasia appeared at least ten y earlier. Fewer colonoscopies by 2-fold were required to detect one advanced neoplasia in men than in women. Major limitations of this study were first that although average-risk individuals were consecutively included in a randomized control trial, this was not the case for all individuals in the familial-risk cohort; and second, the difference in age between the average-risk and familial-risk cohorts. Conclusions Individuals having two FDR with colorectal cancer showed an increased risk of advanced neoplasia compared to those with average-risk for colorectal cancer. Men had over 2-fold higher risk of advanced neoplasia than women, independent of family history. These data suggest that screening colonoscopy guidelines should be revised in the familial-risk population. PMID:27138769

Age at onset versus family history and clinical outcomes in 1,665 international bipolar-I disorder patients

PubMed Central

BALDESSARINI, ROSS J.; TONDO, LEONARDO; VAZQUEZ, GUSTAVO H.; UNDURRAGA, JUAN; BOLZANI, LORENZA; YILDIZ, AYSEGUL; KHALSA, HARI-MANDIR K.; LAI, MASSIMO; LEPRI, BEATRICE; LOLICH, MARIA; MAFFEI, PIER MARIO; SALVATORE, PAOLA; FAEDDA, GIANNI L.; VIETA, EDUARD; MAURICIO, TOHEN

2012-01-01

Early onset in bipolar disorder (BPD) has been associated with greater familial risk and unfavorable clinical outcomes. We pooled data from seven international centers to analyze the relationships of family history and symptomatic as well as functional measures of adult morbidity to onset age, or onset in childhood (age <12), adolescence (12-18), or adulthood (19-55 years). In 1,665 adult, DSM-IV BPD-I patients, onset was 5% in childhood, 28% in adolescence, and 53% at peak ages 15-25. Adolescent and adult onset did not differ by symptomatic morbidity (episodes/year, percentage of months ill, co-morbidity, hospitalization, suicide attempts) or family history. Indications of favorable adult functional outcomes (employment, living independently, marriage and children, and a composite measure including education) ranked, by onset: adult > adolescent > child. Onset in childhood versus adolescence had more episodes/year and more psychiatric co-morbidity. Family history was most prevalent with childhood onset, similar over onset ages 12-40 years, and fell sharply thereafter. Multivariate modeling sustained the impression that family history and poor functional, but not symptomatic, outcomes were associated with younger, especially childhood onset. Early onset was more related to poor functional outcomes than greater symptomatic morbidity, with least favorable outcomes and greater family history with childhood onset. PMID:22295008

Characteristics of Fathers in Incest Families.

ERIC Educational Resources Information Center

Hanson, Rochelle; And Others

1994-01-01

Assesses whether differences in family functioning and psychological adjustment are related to a previous history of child sexual abuse (CSA) in perpetrators. Childhood trauma history appears to be related to more chaotic families of origin, but not to functioning within the family of procreation, personality profiles, or self-reported…

The History of Recent Farm Legislation: Implications for Farm Families.

ERIC Educational Resources Information Center

Little, Linda F.; And Others

1987-01-01

Presents history of modern farm legislation and looks at recent legislation and tax policies. Asserts that family scientists attempting to help farm families can benefit from understanding legislation and policies. Discusses family intervention strategies in the larger context of macroeconomic and political forces. (Author/NB)

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

PubMed

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.

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

PubMed

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.

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

PubMed

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 their providers in discussing risks and prevention.

Comparison of Family History and SNPs for Predicting Risk of Complex Disease

PubMed Central

Do, Chuong B.; Hinds, David A.; Francke, Uta; Eriksson, Nicholas

2012-01-01

The clinical utility of family history and genetic tests is generally well understood for simple Mendelian disorders and rare subforms of complex diseases that are directly attributable to highly penetrant genetic variants. However, little is presently known regarding the performance of these methods in situations where disease susceptibility depends on the cumulative contribution of multiple genetic factors of moderate or low penetrance. Using quantitative genetic theory, we develop a model for studying the predictive ability of family history and single nucleotide polymorphism (SNP)–based methods for assessing risk of polygenic disorders. We show that family history is most useful for highly common, heritable conditions (e.g., coronary artery disease), where it explains roughly 20%–30% of disease heritability, on par with the most successful SNP models based on associations discovered to date. In contrast, we find that for diseases of moderate or low frequency (e.g., Crohn disease) family history accounts for less than 4% of disease heritability, substantially lagging behind SNPs in almost all cases. These results indicate that, for a broad range of diseases, already identified SNP associations may be better predictors of risk than their family history–based counterparts, despite the large fraction of missing heritability that remains to be explained. Our model illustrates the difficulty of using either family history or SNPs for standalone disease prediction. On the other hand, we show that, unlike family history, SNP–based tests can reveal extreme likelihood ratios for a relatively large percentage of individuals, thus providing potentially valuable adjunctive evidence in a differential diagnosis. PMID:23071447

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

ERIC Educational Resources Information Center

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…

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

PubMed

Knorr, Ulla; Søndergaard, Mia H Greisen; Koefoed, Pernille; Jørgensen, Anders; Faurholt-Jepsen, Maria; Vinberg, Maj; Kessing, Lars Vedel

2017-10-01

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. Copyright © 2017 Elsevier B.V. All rights reserved.

Obsessive-compulsive spectrum disorders: a comorbidity and family history perspective.

PubMed

Brakoulias, Vlasios; Starcevic, Vladan; Sammut, Peter; Berle, David; Milicevic, Denise; Moses, Karen; Hannan, Anthony

2011-04-01

The concept of obsessive-compulsive spectrum disorders (OCSDs) has become so influential that there are proposals to introduce it into new diagnostic classificatory systems. The aim of this paper was to assess whether rates of comorbidity and family history of OCSDs in patients with obsessive-compulsive disorder (OCD) supported this concept. Comorbidity and family history were assessed in a group of participants with a primary diagnosis of OCD, using structured clinical interviews. Rates of OCSDs and other anxiety disorders (OADs), excluding OCD, were compared. Of the 77 OCD participants assessed, the most prevalent comorbid conditions were OADs: generalized anxiety disorder (34.6%), specific phobia (26.9%), social phobia (21.8%) and panic disorder (19.2%). The proposed OCSDs were less frequently comorbid: tic disorder (12.8%), trichotillomania (5.1%), hypochondriasis (3.8%) and body dysmorphic disorder (BDD) (3.8%). Similar trends were observed for a family history of these disorders. No participant reported a family history of an OCSD without a family history of an OAD. Although the concept of OCSDs has invigorated thinking in this complex diagnostic field, these results support the current association of OCD with OADs rather than with OCSDs.

Administrative Guide for the Flight Surgeon and the Aeromedical Technician: Performing Medical Examinations.

DTIC Science & Technology

1990-12-01

FASTING BLOOD SUGAR (FBS): When an examinee gives a family history of diabetes , this test must be accomplished. To record the results of the FBS, enter...17, Attachment 3)) (a) Is there a history of diabetes in yourself or in your family? (parent. sibling, more than one grandparent.) (b) Is there a...following long denial statement after the last item of medical history: Examinee denies personal or family history of diabetes or psychosis, use of contact

Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.

PubMed

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 area, 62% of those who returned a family history questionnaire were from this ethnic group and of those returned, 44% warranted referral to a cancer genetics unit. In the non Ashkenazim, the questionnaire return rate was 38% and 18% of those warranted referral to cancer genetics.

Association between Caesarean Delivery and Isolated Doses of Formula Feeding in Cow Milk Allergy.

PubMed

Gil, Francisco; Amezqueta, Ana; Martinez, Diana; Aznal, Elena; Etayo, Veronica; Durá, Teodoro; Sánchez-Valverde, Félix

2017-01-01

Cow milk allergy (CMA) is the most common food allergy in breastfed infants. The aim of this study is to verify whether certain perinatal factors may influence the development of CMA immunoglobulin E (IgE)+. A retrospective, observational study of case and control groups was carried out. Information was collected of patients with CMA IgE+ from our department during the years 1990-2013. Patients of the same age and sex were recruited for the control group. Information on the following variables was collected: sex, age, pregnancy tolerance, duration of pregnancy, type of delivery, isolated doses of formula feeding in hospital (FFH), duration of breastfeeding, and family history of allergy (defined as ≥1 first-degree family member with allergic disease). Statistical analysis was performed using multivariate logistic regression techniques. A total of 211 cases were included in this study. Multivariate analysis showed an influence of duration of breastfeeding, FFH to be a risk factor (OR 4.94; 95% CI 2.68-9.08), especially in caesarean delivery (OR 11.82; 95% CI 2.64-47.50), and prematurity (OR 0.29; 95% CI 0.09-0.92) to be a protective factor. Perinatal factors play a key role in the development of CMA IgE+, with an influence of breastfeeding duration, FFH and caesarean delivery as risk factors and prematurity as a protective factor. While family history had no important role, environmental factors were more decisive. © 2017 S. Karger AG, Basel.

Prostate cancer risk prediction in a urology clinic in Mexico

PubMed Central

Liang, Yuanyuan; Messer, Jamie C; Louden, Christopher; Jimenez-Rios, Miguel A; Thompson, Ian M; Camarena-Reynoso, Hector R

2012-01-01

Objectives To evaluate factors affecting the risk of prostate cancer (PCa) and high-grade disease (HGPCa, Gleason score ≥7) in a Mexican referral population, with comparison to the Prostate Cancer Prevention Trial Prostate Cancer Risk Calculator (PCPTRC). Methods and Materials From a retrospective study of 826 patients who underwent prostate biopsy between January 2005 and December 2009 at the Instituto Nacional de Cancerología, Mexico, logistic regression was used to assess the effects of age, prostate-specific antigen (PSA), digital rectal exam (DRE), first-degree family history of PCa, and history of a prior prostate biopsy on PCa and HGPCa separately. Internal discrimination, goodness-of-fit and clinical utility of the resulting models were assessed with comparison to the PCPTRC. Results Rates of both PCa (73.2%) and HGPCa (33.3%) were high among referral patients in this Mexican urology clinic. The PCPTRC generally underestimated the risk of PCa but overestimated the risk of HGPCa. Four factors influencing PCa on biopsy were logPSA, DRE, family history and a prior biopsy history (all p<0.001). The internal AUC of the logistic model was 0.823 compared to 0.785 of the PCPTRC for PCa (p<0.001). The same four factors were significantly associated with HGPCa as well and the AUC was 0.779 compared to 0.766 of the PCPTRC for HGPCa (p=0.13). Conclusions Lack of screening programs or regular urological checkups in Mexico imply that men typically first reach specialized clinics with a high cancer risk. This renders diagnostic tools developed on comparatively healthy populations, such as the PCPTRC, of lesser utility. Continued efforts are needed to develop and externally validate new clinical diagnostic tools specific to high-risk referral populations incorporating new biomarkers and more clinical characteristics. PMID:22306115

Preliminary Results of National Amyotrophic Lateral Sclerosis (ALS) Registry Risk Factor Survey Data

PubMed Central

2016-01-01

Background The National ALS Registry is made up of two components to capture amyotrophic lateral sclerosis (ALS) cases: national administrative databases (Medicare, Medicaid, Veterans Health Administration and Veterans Benefits Administration) and self-identified cases captured by the Registry’s web portal. This study describes self-reported characteristics of U.S. adults with ALS using the data collected by the National ALS Registry web portal risk factor surveys only from October 19, 2010 through December 31, 2013. Objective To describe findings from the National ALS Registry’s web portal risk factor surveys. Measurements The prevalence of select risk factors among adults with ALS was determined by calculating the frequencies of select risk factors—smoking and alcohol (non, current and former) histories, military service and occupational history, and family history of neurodegenerative diseases such as ALS, Alzheimer’s and/or Parkinson’s. Results Nearly half of survey respondents were ever smokers compared with nearly 41% of adults nationally. Most respondents were ever drinkers which is comparable to national estimates. The majority were light drinkers. Nearly one-quarter of survey respondents were veterans compared with roughly 9% of US adults nationally. Most respondents were retired or disabled. The industries in which respondents were employed for the longest time were Professional and Scientific and Technical Services. When family history of neurodegenerative diseases in first degree relatives was evaluated against our comparison group, the rates of ALS were similar, but were higher for Parkinson’s disease, Alzheimer’s disease and any neurodegenerative diseases. Conclusions The National ALS Registry web portal, to our knowledge, is the largest, most geographically diverse collection of risk factor data about adults living with ALS. Various characteristics were consistent with other published studies on ALS risk factors and will allow researchers to generate hypotheses for future research. PMID:27124833

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.

PubMed

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. There was no significant difference in seropositivity for Fasciola hepatica between the individuals with and without a family history of fascioliasis (x2: 0.077, p>0.05). The prevalence of fascioliasis was hypoendemic in the province of Mersin. There were no significant differences in the Fasciola hepatica prevalence between the groups with and without family history of fascioliasis. However, studies with larger sample sizes may reveal a difference.

Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families.

PubMed

Ollivier, Margot; Paris, Francoise; Philibert, Pascal; Garnier, Sarah; Coffy, Amandine; Fauconnet-Servant, Nadège; Haddad, Mirna; Guys, Jean Michel; Reynaud, Rachel; Faure, Alice; Merrot, Thierry; Wagner, Kathy; Bréaud, Jean; Valla, Jean Stéphane; Dobremez, Eric; Gaspari, Laura; Daures, Jean-Pierre; Sultan, Charles; Kalfa, Nicolas

2018-04-30

Whereas familial forms of complex disorders/differences of sex development have been widely reported, data regarding isolated hypospadias are sparse and a family history is thought to be less frequent. We aimed 1-to determine the frequency of hypospadias in families of hypospadiac boys 2-to determine if theses familial forms exhibit a particular phenotype 3-to evaluate the prevalence of genetic defects of the main candidate genes. A prospective inclusion of 395 hypospadiac boys screened for family history with a standardized questionnaire, extensive clinical description, family tree and sequencing of AR, SF1, SRD5A2 and MAMLD1 was performed. Family history of hypospadias was more frequent than expected (22.3%, n=88). In 19.3% of cases, the familial cases were multiple (n=17). Familial hypospadias were related to the paternal side in 59.1% of cases including the father himself (30.7%), paternal uncles and cousins. Prematurity, assisted-reproductive techniques, other congenital abnormalities and growth retardation were not more frequent in familial hypospadias than in sporadic cases. The severity of phenotype was similar in both groups. The results of the genetic analysis combined to previous data on AR sequencing showed that familial cases tend to reveal more frequently genetic defects than sporadic cases (5.68% vs 1,63%, p=0,048). Familial forms of hypospadias are far more frequent than previously reported. Even minor and isolated hypospadias justify a full clinical investigation of the family history. Detecting these hereditary forms may help to find out the underlying genetic defects and may improve the follow-up and counseling of these patients. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

What You Need to Know in an Emergency (For Parents)

MedlinePlus

... when time really counts. What Should a Medical History Include? Making a complete written or computer-based ... of any medicine that may be needed. Family History A family medical history is helpful information to ...

Effect of adding systematic family history enquiry to cardiovascular disease risk assessment in primary care: a matched-pair, cluster randomized trial.

PubMed

Qureshi, Nadeem; Armstrong, Sarah; Dhiman, Paula; Saukko, Paula; Middlemass, Joan; Evans, Philip H; Kai, Joe

2012-02-21

Evidence of the value of systematically collecting family history in primary care is limited. To evaluate the feasibility of systematically collecting family history of coronary heart disease in primary care and the effect of incorporating these data into cardiovascular risk assessment. Pragmatic, matched-pair, cluster randomized, controlled trial. (International Standardized Randomized Controlled Trial Number Register: ISRCTN 17943542). 24 family practices in the United Kingdom. 748 persons aged 30 to 65 years with no previously diagnosed cardiovascular risk, seen between July 2007 and March 2009. Participants in control practices had the usual Framingham-based cardiovascular risk assessment with and without use of existing family history information in their medical records. Participants in intervention practices also completed a questionnaire to systematically collect their family history. All participants were informed of their risk status. Participants with high cardiovascular risk were invited for a consultation. The primary outcome was the proportion of participants with high cardiovascular risk (10-year risk ≥ 20%). Other measures included questionnaire completion rate and anxiety score. 98% of participants completed the family history questionnaire. The mean increase in proportion of participants classified as having high cardiovascular risk was 4.8 percentage points in the intervention practices, compared with 0.3 percentage point in control practices when family history from patient records was incorporated. The 4.5-percentage point difference between groups (95% CI, 1.7 to 7.2 percentage points) remained significant after adjustment for participant and practice characteristics (P = 0.007). Anxiety scores were similar between groups. Relatively few participants were from ethnic minority or less-educated groups. The potential to explore behavioral change and clinical outcomes was limited. Many data were missing for anxiety scores. Systematically collecting family history increases the proportion of persons identified as having high cardiovascular risk for further targeted prevention and seems to have little or no effect on anxiety. Genetics Health Services Research program of the United Kingdom Department of Health.

The Infant Feeding Genogram: a tool for exploring family infant feeding history and identifying support needs.

PubMed

Darwent, K L; McInnes, R J; Swanson, V

2016-10-19

Family culture and beliefs are passed through the generations within families and influence what constitutes appropriate infant care. This includes infant feeding decisions where a family history and support network congruent with women's infant feeding intentions has been shown to be important to women's breastfeeding experience. This is reflected in breastfeeding rates where women who were not breastfed themselves are less likely to initiate and continue with breastfeeding. Given the importance of family infant feeding history in the initiation and duration of breastfeeding, and the limited ability of some families to provide support; it is unclear why infant feeding family history and support networks are not explored during pregnancy. The Infant Feeding Genogram was adapted from a simple pictorial device that is widely used in psychotherapy and genetic counselling. This tool was developed as part of a study investigating the experience of women when they were the first to breastfeed in their family. Fourteen Scottish participants completed their Infant Feeding Genogram as part of a semi-structured interview. The tool was adapted alongside their narratives to give a visual representation of each participant's family infant feeding history. The utility of the genogram is illustrated through two contrasting case examples with very different family feeding histories. The genogram showed family structures, patterns of infant feeding over time, and supportive or conflicting relationships. In the research setting it assisted women to explore their infant feeding history, identify challenges and sources of support and build rapport with the interviewer. The infant feeding genogram is proposed as a time efficient tool that could assist health professionals and other breastfeeding workers to support women and their families and by stimulating discussion around breastfeeding, Bby identifying strengths or possible deficits in social support for each individual, the tool could inform tailored support and care interventions. The effectiveness and acceptability of the Infant Feeding Genogram requires testing in the clinical environment. However, its successful application in other clinical contexts, combined with the interest in genealogy in popular culture, mean this is likely to be an acceptable, family friendly way to develop more effective breastfeeding conversations.

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

PubMed

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.

Health Heritage© a web-based tool for the collection and assessment of family health history: initial user experience and analytic validity.

PubMed

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.

Relevance of a family history of seizures.

PubMed Central

Baraitser, M

1983-01-01

The approximately tenfold increase in risk (1 in 250 to 1 in 25) to those who have a positive but not extensive family history of recurrent seizures would seem to be considerable but the actual figure of 4% is small. Only if the family history concerns at least 2 closely related members does the risk reach the 10% mark (on the borderline between high and low), but even then the burden of the disorder and response to treatment in the other family members should be taken into account. Familial epilepsy often responds more readily to therapy than other types. PMID:6407403

Hereditary Melanoma: Update on Syndromes and Management - Genetics of familial atypical multiple mole melanoma syndrome

PubMed Central

Soura, E.; Eliades, P.; Shannon, K.; Stratigos, A.; Tsao, H.

2015-01-01

Malignant melanoma is considered the most lethal skin cancer if not detected and treated at its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (i.e. unilateral lineage, multi-generational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation. Such patients have a high risk of developing multiple primary melanomas and internal organ malignancies especially pancreatic cancer; thus, a multidisciplinary approach is necessary in many cases. The value of dermoscopy examination and total body photography performed at regular intervals has been suggested by a number of studies, and should therefore be considered for these patients and their first degree relatives. In addition, genetic counseling with the possibility of testing can be a valuable adjunct for familial melanoma patients. But, this must be performed with care and only by qualified individuals trained in cancer risk analysis. PMID:26892650

Forgotten marriages? Measuring the reliability of marriage histories

PubMed Central

Chae, Sophia

2016-01-01

BACKGROUND Marriage histories are a valuable data source for investigating nuptiality. While researchers typically acknowledge the problems associated with their use, it is unknown to what extent these problems occur and how marriage analyses are affected. OBJECTIVE This paper seeks to investigate the quality of marriage histories by measuring levels of misreporting, examining the characteristics associated with misreporting, and assessing whether misreporting biases marriage indicators. METHODS Using data from the Malawi Longitudinal Study of Families and Health (MLSFH), I compare marriage histories reported by the same respondents at two different points in time. I investigate whether respondents consistently report their spouses (by name), status of marriage, and dates of marriage. I use multivariate regression models to investigate the characteristics associated with misreporting. Finally, I examine whether misreporting marriages and marriage dates affects marriage indicators. RESULTS Results indicate that 28.3% of men and 17.9% of women omitted at least one marriage in one of the survey waves. Multivariate regression models show that misreporting is not random: marriage, individual, interviewer, and survey characteristics are associated with marriage omission and marriage date inconsistencies. Misreporting also affects marriage indicators. CONCLUSIONS This is the first study of its kind to examine the reliability of marriage histories collected in the context of Sub-Saharan Africa. Although marriage histories are frequently used to study marriage dynamics, until now no knowledge has existed on the degree of misreporting. Misreporting in marriage histories is shown to be non-negligent and could potentially affect analyses. PMID:27152090

Coalescent histories for caterpillar-like families.

PubMed

Rosenberg, Noah A

2013-01-01

A coalescent history is an assignment of branches of a gene tree to branches of a species tree on which coalescences in the gene tree occur. The number of coalescent histories for a pair consisting of a labeled gene tree topology and a labeled species tree topology is important in gene tree probability computations, and more generally, in studying evolutionary possibilities for gene trees on species trees. Defining the Tr-caterpillar-like family as a sequence of n-taxon trees constructed by replacing the r-taxon subtree of n-taxon caterpillars by a specific r-taxon labeled topology Tr, we examine the number of coalescent histories for caterpillar-like families with matching gene tree and species tree labeled topologies. For each Tr with size r≤8, we compute the number of coalescent histories for n-taxon trees in the Tr-caterpillar-like family. Next, as n→∞, we find that the limiting ratio of the numbers of coalescent histories for the Tr family and caterpillars themselves is correlated with the number of labeled histories for Tr. The results support a view that large numbers of coalescent histories occur when a tree has both a relatively balanced subtree and a high tree depth, contributing to deeper understanding of the combinatorics of gene trees and species trees.

Family background of Diabetes Mellitus, obesity and hypertension affects the phenotype and first symptom of patients with PCOS.

PubMed

Kulshreshtha, Bindu; Singh, Seerat; Arora, Arpita

2013-12-01

The phenotypic variability among PCOS could be due to differences in insulin patterns. Hyperinsulinemia commonly accompanies Diabetes Mellitus (DM), obesity, hypertension and CAD, though, to a variable degree. We speculate that a family history of these diseases could differentially affect the phenotype of PCOS. To study the effect of DM/CAD/HT and obesity on the phenotype of PCOS. PCOS patients and age matched controls were enquired for a family background of DM, hypertension, CAD and obesity among parents and grandparents. Regression modelling was employed to examine predictors of obesity and first symptom in PCOS patients. There were 88 PCOS women and 77 age-matched controls (46 lean, 31 obese). A high prevalence of DM, CAD, obesity and hypertension was observed among parents and grandparents of women with PCOS compared to controls. Hypertension and CAD manifested more in father's side of family. BMI of PCOS subjects was significantly related to parental DM and obesity after correcting for age. First symptom of weight gain was significantly associated with number of parents with DM (p = 0.02) and first symptom of irregular periods was associated with number of parents with hypertension (p = 0.06). A family background of DM/HT and obesity diseases affects the phenotype of PCOS.

Polygenic Risk Score, Parental Socioeconomic Status, Family History of Psychiatric Disorders, and the Risk for Schizophrenia: A Danish Population-Based Study and Meta-analysis.

PubMed

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 (P = .03). A total of 17.4% (95% CI, 9.1-26.6) of the effect associated with family history of schizophrenia/psychoses was mediated through the polygenic risk score. Schizophrenia was associated with the polygenic risk score, family psychiatric history, and socioeconomic status. Our study demonstrated that family history of schizophrenia/psychoses is partly mediated through the individual's genetic liability.