Artykuły w czasopismach na temat „Families at risk”
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Mederer, Helen, i Nicola Madge. "Families at Risk." Contemporary Sociology 14, nr 3 (maj 1985): 352. http://dx.doi.org/10.2307/2071335.
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Groombridge, Claire, Bronwyn Burgess, Allan D. Spigelman i Libby O’Toole. "Disseminating risk information to familial adenomatous polyposis families". Familial Cancer 6, nr 3 (2.03.2007): 323–24. http://dx.doi.org/10.1007/s10689-007-9121-4.
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Yu, Hongyao, i Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers". Mutagenesis 35, nr 3 (19.08.2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.
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Abstract We review here data on familial risk in colorectal cancer (CRC) generated from the Swedish Family-Cancer Database, the largest resource of its kind in the world. Although the concordant familial risk for CRC (i.e. CRC risk in families of CRC patients) has been reasonably well established, the studies on discordant familial risks (i.e. CRC risk in families with any other cancers) are rare. Because different cancers could be caused by shared genetic susceptibility or shared environment, data of associations of discordant cancers may provide useful information for identifying common risk factors. In analyses between any of 33 discordant cancers relative risks (RRs) for discordant cancers were estimated in families with increasing numbers of probands with CRC; in the reverse analyses, RRs for CRC were estimated in families with increasing numbers of probands with discordant cancers. In separate analyses, hereditary non-polyposis colorectal cancer (HNPCC) families were excluded from the study, based on HNPCC related double primary cancers, to assess the residual familial RRs. We further reviewed familial risks of colon and rectal cancers separately in search for distinct discordant associations. The reviewed data suggested that colon cancer was associated with a higher familial risk for CRC compared to rectal cancer. The previous data had reported associations of CRC with melanoma, thyroid and eye cancers. Nervous system cancer was only associated with colon cancer, and lung cancer only associated with rectal cancer. The reviewed data on discordant association may provide guidance to gene identification and may help genetic counseling.
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Nova, Renny, Achir Yani Syuhaimie Hamid i Novy Helena Catharina Daulima. "Family’s experience in caring for clients with suicidal risk in Indonesia". Enfermería Global 18, nr 1 (31.12.2018): 445–63. http://dx.doi.org/10.6018/eglobal.18.1.337751.
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El suicidio es una de las emergencias psiquiátricas que requieren atención integral porque los individuos corren el riesgo de ponerse en peligro a sí mismos, a los demás y al entorno. El suicidio en Indonesia está aumentando. Las familias tienen un papel importante en el cuidado de los clientes y la prevención del suicidio, pero las cargas familiares no se han estudiado profundamente. El objetivo del estudio fue obtener una visión general de la experiencia familiar en el cuidado de clientes con riesgo de suicidio. El diseño de la investigación fue cualitativo con un enfoque de fenomenología descriptiva que involucró a seis participantes. Los datos fueron recolectados por entrevista en profundidad y analizados utilizando el método Colaizzi. Los resultados del estudio encontraron cinco temas; los intentos de suicidio son una carga compleja para las familias, los cambios de comportamiento como un signo de suicidio, la preocupación como una forma de apoyo familiar y comunitario, las percepciones familiares sobre las causas y consecuencias del intento de suicidio y las estrategias de supervivencia de las familias superando el impacto del intento de suicidio. Los resultados del estudio recomiendan que la familia como unidad social de prevención del suicidio sea más sensible a los cambios en el comportamiento de clientes y enfermeras, ya que los consejeros pueden proporcionar intervenciones para mejorar el estado de salud mental de los clientes y las familias, como la educación sanitaria. terapia de psicoterapia familiar, manejo del estrés y grupo de autoayuda. La conclusión que puede extraerse de los cinco temas anteriores es que la carga de la familia que brinda cuidados al cliente con el riesgo de suicidio es mayor cuando la familia no puede reconocer los signos de suicidio del cliente, por lo que es necesario un sistema de apoyo. y afrontamiento constructivo. Suicide is one of the psychiatric emergencies that require comprehensive care because individuals are at risk of endangering themselves, others and the surrounding. Suicide in Indonesia is increasing. Families have a major role in caring for clients and preventing suicide but family burdens have not been studied profoundly. The aim of the study was to get an overview of family experience of caring for clients with suicide risk. The research design was qualitative with descriptive phenomenology approach involving six participants. Data was collected by in depth interview and analyzed using Colaizzi method. The results of the study found five themes; suicide attempts is a complex burden for families, behavioral changes as a suicide sign, concern as a form of family and community support, family perceptions about the causes and consequences of attempted suicide and coping strategies of families overcoming the impact of attempted suicide. The results of the study recommend that the family as the front social unit of suicide prevention can be more sensitive to changes in the behavior of clients and nurses as counselors can provide interventions to improve the mental health status of clients and families such as health education, family psycoeducation therapy, stress management and self help group. The conclusion that can be drawn from the five themes above is the burden of the family who provide caring for the client with the risk of suicide is heavier when the family is unable to recognize the client's suicide signs so there is a need for a support system and constructive coping.
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Student. "ENDURING FAMILIES AT RISK". Pediatrics 84, nr 2 (1.08.1989): 247. http://dx.doi.org/10.1542/peds.84.2.247.
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Dolgin, Kim Gale, Michael Lewis i Candice Feiring. "Families, Risk, and Competence". Journal of Marriage and the Family 61, nr 4 (listopad 1999): 1086. http://dx.doi.org/10.2307/354033.
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Deccio, Gary, William C. Horner i Dee Wilson. "High-Risk Neighborhoods and High-Risk Families". Journal of Social Service Research 18, nr 3-4 (marzec 1994): 123–37. http://dx.doi.org/10.1300/j079v18n03_06.
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Charrys-Bravo, Nancy Cecilia. "Riesgo familiar total en familias con mujeres diagnosticadas con neoplasia de mama". Revista Ciencia y Cuidado 14, nr 2 (1.07.2017): 8. http://dx.doi.org/10.22463/17949831.1107.
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Objetivo: determinar el riesgo familiar total de las familias con mujeres diagnosticadas con cáncer de mama, que asisten a un centro de salud oncológico en la ciudad de Barranquilla. Materiales y Métodos: el estudio fue de tipo descriptivo, transversal con abordaje cuantitativo. Se utilizó el instrumento Riesgo Familiar Total RFT 5-33. El universo estuvo conformado por familias con mujeres diagnosticadas con cáncer en mama. La muestra fue de 41 familias que integraron a 154 miembros; se abordó el estudio de manera censal, y no por medio de una muestra, porque el acceso a la información de la totalidad de las familia fue viable. Resultados: los resultados mostraron que las familias, en su mayoría, son de tipo 2. El 68 % de las pacientes categorizan sus familias como amenazadas, el 5 % como familias de alto riesgo y un 27 % de las familias con un bajo riesgo. Conclusiones: los hallazgos encontrados en esta investigación son importantes para las familias, lo cual permitirá establecer acciones y actividades que logren orientar e implementar procesos de atención específicos con el propósito de cuidar a las familias para que se mantengan sanos en un nivel de bajo riesgo; además, desarrollar controles y seguimiento a aquellas familias que se encuentran en un riesgo alto de amenazas, mediante acciones de promoción y prevención de la enfermedad de una manera amplia. Por lo anterior, se deben emprender programas más agresivos de prevención y promoción, especialmente con las familias que asisten en busca de apoyo médico para este padecimiento; de esta forma, se podrán diagnosticar los casos de forma temprana y proceder al respectivo tratamiento.PALABRAS CLAVE: familia, mujeres, neoplasias de la mama, riesgo. TOTAL FAMILY RISK IN FAMILIES WITH WOMEN DIAGNOSED WITH BREAST CANCER ABSTRACTObjective: To determine the total family risk with women diagnosed with breast cancer, that attend an oncological health center in the city of Barranquilla. Materials and Methods: the study was descriptive, cross-sectional with a quantitative approach. The instrument of Total Family Risk RFT 5-33 was used. The universe was composed by families with women diagnosed with breast cancer. The sample were 41 families integrated by 154 members; the study was approached as a census, and not through samples, because the access to the information in its entirety was viable. Results: the results showed that the families, in their majority are from type 2. 68% of the patients categorize their families as threatened, 5% as families of high risk, and 27% of the families as low risk. Conclusion: the data found in this research, is important for the families, which will allow to establish actions and activities to orientate and implement processes of specific attention, with the purpose of taking care of the families in order to keep them healthy and in a level of low risk; also, to develop controls and monitoring, to those families that have a high risk of threat through actions of promotion and prevention of the disease in a broad manner. Consequently, more aggressive programs of prevention and promotion must begin, especially with the families that attend in search of medical support for this condition; this way breast cancer cases can be diagnosed early and proceed to the proper treatment.KEYWORDS: family, women, breast cancer, risk. RISCO FAMILIAR TOTAL EM FAMÍLIAS COM MULHERES DIAGNOSTICADAS COM NEOPLASIA DA MAMA RESUMOObjetivo: determinar o risco familiar total das famílias com mulheres diagnosticadas com câncer de mama, que assistem a um centro de saúde oncológica na cidade de Barranquilla - Colômbia. Materiais e Métodos: o estudo foi de tipo descritivo, transversal com abordagem quantitativa. Utilizou-se o instrumento Risco Familiar Total RFT 5-33. O universo esteve conformado por famílias com mulheres diagnosticadas com câncer de mama. A amostra foi de 41 famílias que integraram a 154 membros; se abordou o estudo utilizando um censo, e não por meio de uma amostra, porque o acesso à informação de todas as famílias foi viável. Resultados: os resultados mostraram que as famílias em sua maioria são de tipo 2. O 68% das pacientes categorizam suas famílias como ameaçadas, o 5% como famílias de alto risco, e um 27% das famílias com um baixo risco. Conclusões: os resultados encontrados nesta pesquisa, são importantes para as famílias, já que podem-se estabelecer ações e atividades que logrem orientar e implementar processos de atendimento específicos, com o propósito de cuidar às famílias para que se mantenham saudáveis num nível de baixo risco; assim como também desenvolver controles e seguimentos, sobretudo a aquelas famílias que se encontram num risco alto de ameaças, através de ações de promoção e prevenção da doença de uma maneira ampla. Portanto, se devem empreender programas mais agressivos de prevenção e promoção, especialmente com as famílias que assistem em procura de apoio médico para este padecimento; e desta maneira conseguir diagnosticar os casos de forma precoce e proceder ao respectivo tratamento.Palavras-chave: família, mulheres, neoplasias da mama, risco.
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Coon, Hilary, Todd M. Darlington, Emily DiBlasi, W. Brandon Callor, Elliott Ferris, Alison Fraser, Zhe Yu i in. "Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide". Molecular Psychiatry 25, nr 11 (23.10.2018): 3077–90. http://dx.doi.org/10.1038/s41380-018-0282-3.
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Abstract Suicide is the 10th leading cause of death in the United States. Although environment has undeniable impact, evidence suggests that genetic factors play a significant role in completed suicide. We linked a resource of ~ 4500 DNA samples from completed suicides obtained from the Utah Medical Examiner to genealogical records and medical records data available on over eight million individuals. This linking has resulted in the identification of high-risk extended families (7–9 generations) with significant familial risk of completed suicide. Familial aggregation across distant relatives minimizes effects of shared environment, provides more genetically homogeneous risk groups, and magnifies genetic risks through familial repetition. We analyzed Illumina PsychArray genotypes from suicide cases in 43 high-risk families, identifying 30 distinct shared genomic segments with genome-wide evidence (p = 2.02E-07–1.30E-18) of segregation with completed suicide. The 207 genes implicated by the shared regions provide a focused set of genes for further study; 18 have been previously associated with suicide risk. Although PsychArray variants do not represent exhaustive variation within the 207 genes, we investigated these for specific segregation within the high-risk families, and for association of variants with predicted functional impact in ~ 1300 additional Utah suicides unrelated to the discovery families. None of the limited PsychArray variants explained the high-risk family segregation; sequencing of these regions will be needed to discover segregating risk variants, which may be rarer or regulatory. However, additional association tests yielded four significant PsychArray variants (SP110, rs181058279; AGBL2, rs76215382; SUCLA2, rs121908538; APH1B, rs745918508), raising the likelihood that these genes confer risk of completed suicide.
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Tosto, Giuseppe, Thomas D. Bird, Debby Tsuang, David A. Bennett, Bradley F. Boeve, Carlos Cruchaga, Kelley Faber i in. "Polygenic risk scores in familial Alzheimer disease". Neurology 88, nr 12 (17.02.2017): 1180–86. http://dx.doi.org/10.1212/wnl.0000000000003734.
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Objective:To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease.Methods:Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging–Late-Onset Alzheimer's Disease Family Study), mixed regression models tested the association of familial LOAD with a GRS based on single nucleotide polymorphisms (SNPs) previously associated with LOAD. We modeled associations using unweighted and weighted scores with estimates derived from the literature. In secondary models, we adjusted subsequent models for presence of the APOE ε4 allele and further tested the interaction between APOE ε4 and the GRS. We constructed a similar GRS in a cohort of Caribbean Hispanic families multiply affected by LOAD by selecting the SNP with the strongest p value within the same regions.Results:In the NIA-LOAD families, the GRS was significantly associated with LOAD (odds ratio [OR] 1.29; 95% confidence interval 1.21–1.37). The results did not change after adjusting for APOE ε4. In Caribbean Hispanic families, the GRS also significantly predicted LOAD (OR 1.73; 1.57–1.93). Higher scores were associated with lower age at onset in both cohorts.Conclusions:High GRS increases the risk of familial LOAD and lowers the age at onset, regardless of ethnic group.
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Rhiem, K., C. Fischer, K. Bosse, B. Wappenschmidt i R. K. Schmutzler. "Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes". Journal of Clinical Oncology 25, nr 18_suppl (20.06.2007): 5588. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.5588.
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5588 Background: In BRCA germline mutation carriers increased risks for cancer at other sites than breast and ovary have been reported. Methods: To evaluate the risk of BRCA-associated cancers, we conducted a cross-section analysis in 4405 individuals from 409 families with BRCA1 (n=86) or BRCA2 mutations (n=53) and 270 high risk BRCA1/2 negative families ascertained by the Familial Breast and Ovarian Cancer Center Cologne. We considered proven mutation carriers, individuals affected by breast and ovarian cancer and their first degree relatives and identified 921 individuals from BRCA1 (604 female; 317 male), 571 from BRCA2 (365 female; 206 male) and 2913 from BRCA1/2 negative (1938 female; 975 male) families that suffered from 677 cancers other than breast and ovarian cancers. Relative risks (RR) of the study group compared to the general population were evaluated by the standardized incidence ratio (SIR), using data from two German Cancer Registries. Results: The risk for cervical cancer is significantly increased in women from BRCA1 and BRCA2 positive (RR=4.59, 95% CI=2.20 to 8.44, and RR=3.69, 95% CI=1.20 to 8.61; p=<0.001) and from BRCA1/2 negative families (RR=2.97, 95% CI=1.88 to 4.45). Moreover, the risk for pancreatic cancer in women from BRCA2 positive and BRCA1/2 negative families as well as the risk for prostate cancer in men from BRCA2 positive families is increased (RR=5.10, 95% CI=1.65 to 11.90; RR=1.98, 95% CI=1.02 to 3.46; RR=2.09; 95% CI=1.00 to 3.84). Conclusions: We here report an increased risk of cervical cancer for women from BRCA1 and BRCA2 positive and from BRCA1/2 negative high risk families, respectively. These results are in line with other studies in BRCA1 and 2 positive individuals and should be considered in the clinical risk management of these individuals. No significant financial relationships to disclose.
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Grabowski, Dan, i Tue Helms Andersen. "Barriers to intra-familial prevention of type 2 diabetes: A qualitative study on horizons of significance and social imaginaries". Chronic Illness 16, nr 2 (4.08.2018): 119–30. http://dx.doi.org/10.1177/1742395318789464.
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Objectives In families living with type 2 diabetes, relatives have a significantly heightened risk of developing the disease. In many families, both the person with type 2 diabetes and his/her relatives lack detailed knowledge about this risk. One obstacle to constructive intra-familial prevention and risk reduction is the lack of perceived familial disease relevance. The objective of the present study is to explore barriers to prevention in families with at least one adult with type 2 diabetes. Methods Data were gathered during eight problem assessment and ideation workshops with families. The data were analyzed using radical hermeneutics and interpreted using Taylor’s concepts of social imaginaries and horizons of significance. Results The analysis revealed three main barriers: (1) Sole responsibilities and the absence of collective practices, (2) intra-familial differences in perceptions of risks and future health, and (3) lack of perceived disease significance and the ensuing lack of mutual care. The participating families all experienced one or more of the three identified primary barriers. Discussion The study has produced important knowledge about barriers to familial prevention of type 2 diabetes. The findings confirm that familial prevention is indeed a complex matter that calls for the use of complexity-oriented approaches in health care practice.
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Hemminki, Kari, Kristina Sundquist, Jan Sundquist, Asta Försti, Akseli Hemminki i Xinjun Li. "Familial Risks and Proportions Describing Population Landscape of Familial Cancer". Cancers 13, nr 17 (30.08.2021): 4385. http://dx.doi.org/10.3390/cancers13174385.
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Background: Familial cancer can be defined through the occurrence of the same cancer in two or more family members. We describe a nationwide landscape of familial cancer, including its frequency and the risk that it conveys, by using the largest family database in the world with complete family structures and medically confirmed cancers. Patients/methods: We employed standardized incidence ratios (SIRs) to estimate familial risks for concordant cancer among first-degree relatives using the Swedish Cancer Registry from years 1958 through 2016. Results: Cancer risks in a 20–84 year old population conferred by affected parents or siblings were about two-fold compared to the risk for individuals with unaffected relatives. For small intestinal, testicular, thyroid and bone cancers and Hodgkin disease, risks were higher, five-to-eight-fold. Novel familial associations included adult bone, lip, pharyngeal, and connective tissue cancers. Familial cancers were found in 13.2% of families with cancer; for prostate cancer, the proportion was 26.4%. High-risk families accounted for 6.6% of all cancer families. Discussion/Conclusion: High-risk family history should be exceedingly considered for management, including targeted genetic testing. For the major proportion of familial clustering, where genetic testing may not be feasible, medical and behavioral intervention should be indicated for the patient and their family members, including screening recommendations and avoidance of carcinogenic exposure.
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Kendler, Kenneth S. "Familial risk factors and the familial aggregation of psychiatric disorders". Psychological Medicine 20, nr 2 (maj 1990): 311–19. http://dx.doi.org/10.1017/s0033291700017621.
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SynopsisAll major psychiatric disorders aggregate in families. For most disorders, both genes and environmental factors play an important role in this aggregation. While recent work has tended to concentrate on the importance of genetic factors, this report focuses on the potential importance of environmental risk factors which themselves aggregate in families. In particular, this article examines how much of the familial aggregation of a psychiatric disorder may result from the familial aggregation of a risk factor. The model is illustrated and then applied to putative familial risk factors for schizophrenia and depression. The results of the model suggest that if parental loss and exposure to pathogenic rearing practices are true risk factors for depression, then they could account for a significant proportion of the familial aggregation of depression. By contrast, the model predicts that even if obstetric injury and low social class are true risk factors for schizophrenia, they together would account for only a very small proportion of the tendency for schizophrenia to aggregate in families.
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SANTOS, Carlos da Rocha, Flávia Martão FLÓRIO i Luciane ZANIN. "Association between familial risk and caries risk in 5 year old scholars". RGO - Revista Gaúcha de Odontologia 66, nr 4 (grudzień 2018): 331–37. http://dx.doi.org/10.1590/1981-863720180004000063570.
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ABSTRACT Objective: This study aimed to evaluate the association of familial social risk and caries risk in 5-year-old school students from the municipality of Coari. Methods: The sample consisted of 361 students from 3 schools in the city. Data were collected from file A of the Basic Attention Information System and from records of families enrolled in Family Health Units for the classification of families according to Family Social risk and caries risk was classified according to the Secretary of Health of São Paulo. A descriptive data analysis and a multiple logistic regression were performed to verify the possible association of family social risk with family social risk and demographic variables. Results: The results showed that 51% of the sample were female, the prevalence of caries was 67.6%; and dmf-t 3.16. There was an association of high social risk with prevalence, and high risk of caries. Conclusion: Therefore, children at high risk of caries were more likely to belong to families with higher social risk. Thus, this research indicates that the present tool for assessing family social risk can be used in other studies related to planning, organization and access to oral health services.
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Wu, Xue, Jing Pang, Xumin Wang, Jie Peng, Yan Chen, Shilong Wang, Gerald F. Watts i Jie Lin. "Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families". Clinical Cardiology 40, nr 11 (listopad 2017): 1169–73. http://dx.doi.org/10.1002/clc.22809.
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Suchon, Pierre, Noemie Resseguier, Manal Ibrahim, Alexia Robin, Geoffroy Venton, Marie-Christine Barthet, Dominique Brunet i in. "Common Risk Factors Add to Inherited Thrombophilia to Predict Venous Thromboembolism Risk in Families". TH Open 03, nr 01 (styczeń 2019): e28-e35. http://dx.doi.org/10.1055/s-0039-1677807.
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AbstractThe clinical venous thromboembolism (VTE) pattern often shows wide heterogeneity within relatives of a VTE-affected family, although they carry the same thrombophilia defect. It is then mandatory to develop additional tools for assessing VTE risk in families with thrombophilia. This study aims to assess whether common environmental and genetic risk factors for VTE contribute to explain this heterogeneity. A total of 2,214 relatives from 651 families with known inherited thrombophilia were recruited at the referral center for thrombophilia in Marseilles, France, from 1986 to 2013. A thrombophilia screening was systematically performed in all included relatives. According to the severity of the thrombophilia defect, individuals were split into three groups: no familial defect, mild thrombophilia, and severe thrombophilia. In addition, common genetic factors (ABO blood group and 11 polymorphisms selected on the basis of their association with VTE in the general population) were genotyped. Furthermore, body mass index and smoking were collected. VTE incidence was 1.74, 3.64, and 6.40 per 1,000 person-years in individuals with no familial defect, mild thrombophilia, and severe thrombophilia, respectively. Five common risk factors were associated with VTE in this population: obesity, smoking, ABO blood group, and F11_rs2036914 and FGG_rs2066865 polymorphisms. These common factors were then included into a three-level risk score. The score was highly efficient for assessing VTE risk in mild thrombophilia patients by identifying two groups with different VTE risk; individuals with low score had the same risk as individuals with no familial defect whereas individuals with high score had the same risk as individuals with severe thrombophilia. An overall score including the five items plus the thrombophilia status was built and displayed an area under the receiver operating characteristic curve of 0.702 for discriminating VTE and non-VTE relatives. In conclusion, integrating common environmental and genetic risk factors improved VTE risk assessment in relatives from families with thrombophilia.
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Mellon, Suzanne, Robin Gold, James Janisse, Michelle Cichon, Michael A. Tainsky, Michael S. Simon i Jeannette Korczak. "Risk perception and cancer worries in families at increased risk of familial breast/ovarian cancer". Psycho-Oncology 17, nr 8 (sierpień 2008): 756–66. http://dx.doi.org/10.1002/pon.1370.
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Shearer, Pam, i Suzanne Williment. "Taking a risk group work with families at risk". Practice 1, nr 1 (marzec 1987): 15–25. http://dx.doi.org/10.1080/09503158708416824.
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Law, Matthew H., Lauren G. Aoude, David L. Duffy, Georgina V. Long, Peter A. Johansson, Antonia L. Pritchard, Kiarash Khosrotehrani i in. "Multiplex melanoma families are enriched for polygenic risk". Human Molecular Genetics 29, nr 17 (27.07.2020): 2976–85. http://dx.doi.org/10.1093/hmg/ddaa156.
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Abstract Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10−5 and 6.3 × 10−45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect.
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Miller, Kim S., Sarah M. Lasswell, Drewallyn B. Riley i Melissa N. Poulsen. "Families Matter! Presexual Risk Prevention Intervention". American Journal of Public Health 103, nr 11 (listopad 2013): e16-e20. http://dx.doi.org/10.2105/ajph.2013.301417.
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Schneider-Muñoz, Andrew J., Rose Ann M. Renteria, Jesse Gelwicks i Matthew E. Fasano. "Reducing Risk: Families in Wraparound Intervention". Families in Society: The Journal of Contemporary Social Services 96, nr 2 (kwiecień 2015): 91–98. http://dx.doi.org/10.1606/1044-3894.2015.96.18.
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Vaitiekus, Edmundas, i Danguolė Šakalytė. "SOCIAL MOBILITY OF FAMILIES AT RISK". SOCIETY. INTEGRATION. EDUCATION. Proceedings of the International Scientific Conference 3 (26.05.2016): 402. http://dx.doi.org/10.17770/sie2016vol3.1453.
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Social mobility is shifting from one social status to another, commonly to a status that is either higher or lower. Disadvantaged family affects all social risk: poverty, unemployment, and addictions, violence, crime environment. The authors try to review the situation of families at risk in the community; to investigate the changes of social mobility of the families at risk. The aim of research in presented article is – to reveal the social mobility and the changes of the social status of families at risk in X community. Performing the research, the literature analysis and instantly qualitative study were done. Several qualitative research methods: observation, genogram, family social network, and family functioning assessment questionnaire were selected.
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Schoen, Robert E. "Families at Risk for Colorectal Cancer". Journal of Clinical Gastroenterology 31, nr 2 (wrzesień 2000): 114–20. http://dx.doi.org/10.1097/00004836-200009000-00005.
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Palmer, Emma. "Child Maltreatment and High Risk Families". British Journal of Social Work 45, nr 6 (25.06.2015): 1937–38. http://dx.doi.org/10.1093/bjsw/bcv057.
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Utley, Joe R. "Anger, Patients, Families, and Risk Management". Journal of Cardiac Surgery 11, nr 6 (listopad 1996): 434–35. http://dx.doi.org/10.1111/j.1540-8191.1996.tb00079.x.
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Thyen, Ute, Roland Thiessen i Matthias Heinsohn-Krug. "Secondary prevention—Serving families at risk". Child Abuse & Neglect 19, nr 11 (listopad 1995): 1337–47. http://dx.doi.org/10.1016/0145-2134(95)00099-t.
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Hayashi, Fumio, Joseph Altonji i Laurence Kotlikoff. "Risk-Sharing between and within Families". Econometrica 64, nr 2 (marzec 1996): 261. http://dx.doi.org/10.2307/2171783.
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Kruttschnitt, Candace, James Garbarino, Cynthia J. Schellenbach i Janet M. Sebes. "Troubled Youth, Troubled Families: Understanding Families At-Risk for Adolescent Maltreatment." Contemporary Sociology 16, nr 3 (maj 1987): 423. http://dx.doi.org/10.2307/2070362.
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An, Joon-Yong, Jae Ho Jung, Leejee Choi, Eric D. Wieben i Brian G. Mohney. "Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis". Genes 12, nr 1 (10.01.2021): 75. http://dx.doi.org/10.3390/genes12010075.
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Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with exome sequencing analysis to build a comprehensive genetic profile of the study families. Results: We observed 60 variants from 58 genes in 53 patients diagnosed with strabismus. We prioritized the most credible risk variants, which showed clear segregation in family members affected by strabismus. As a result, we found risk variants in four genes (FAT3, KCNH2, CELSR1, and TTYH1) in five families, suggesting their role in development of familial strabismus. In other families, there were several rare genetic variants in affected cases, but we did not find clear segregation pattern across family members. Conclusion: Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.
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An, Joon-Yong, Jae Ho Jung, Leejee Choi, Eric D. Wieben i Brian G. Mohney. "Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis". Genes 12, nr 1 (10.01.2021): 75. http://dx.doi.org/10.3390/genes12010075.
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Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with exome sequencing analysis to build a comprehensive genetic profile of the study families. Results: We observed 60 variants from 58 genes in 53 patients diagnosed with strabismus. We prioritized the most credible risk variants, which showed clear segregation in family members affected by strabismus. As a result, we found risk variants in four genes (FAT3, KCNH2, CELSR1, and TTYH1) in five families, suggesting their role in development of familial strabismus. In other families, there were several rare genetic variants in affected cases, but we did not find clear segregation pattern across family members. Conclusion: Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.
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Frecker, M. F., W. E. M. Pryse-Philli i H. R. Strong. "Immunological Associations in Familial and Non-Familial Alzheimer Patients and Their Families". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 21, nr 2 (maj 1994): 112–19. http://dx.doi.org/10.1017/s0317167100049027.
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Abstract:A number of autoimmune diseases and immune-related conditions were investigated in a series of 100 Alzheimer patients and their families. The group was divided into those who had familial dementia of the Alzheimer type and non-familial dementia of the Alzheimer type. HLA DR3 was associated with the familial dementia of the Alzheimer type patients. Adult exposure to tuberculosis appeared to be a risk factor for familial dementia of the Alzheimer type patients. Autoimmune diseases clustered among the non-familial dementia of the Alzheimer type patients, and also among their relatives. Asthma and infertility were also significantly increased among non-familial dementia of the Alzheimer type relatives. The analysis showed that (1) autoimmunity may be important in the sporadic form of Alzheimer disease; (2) it may be possible to confer a decreased risk for Alzheimer disease among relatives when many autoimmune diseases occur in the family; (3) it may be important to assess environmental risk factors for Alzheimer disease separately in patients with familial and sporadic disease; and (4) the efficacy of drug therapies may be dependent on whether the patients have a familial or sporadic form of Alzheimer disease.
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Hall, Michael J., Olufunmilayo I. Olopade, Mary Beryl Daly i Sonia Kupfer. "Germline ATM mutations in families with early-onset and familial gastroesophageal and colorectal cancers." Journal of Clinical Oncology 35, nr 4_suppl (1.02.2017): 11. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.11.
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11 Background: ATM is involved in repair of DNA damage due to radiation and environmental toxins via downstream interaction with CHEK2, BRCA1, and other proteins involved in double strand break repair. Mutations in ATM (Ataxia-Telangiectasia Mutated, 11q22) are among the most common hereditary cancer risk mutations in the general population (0.5-1.0% carrier rate), yet beyond risks of breast (BC) and pancreatic cancer (PC), the spectrum of clinically relevant cancer risks in ATM+ individuals remains uncertain. Thompson (JNCI 2005) previously reported possible risk of colorectal (CRC) (RR 2.54; 1.06-6.09) and gastric cancer (GC)(RR 3.39; 0.86-13.4) in ATM+ individuals, while more recently Hansford (JAMA Onc 2015) performed panel gene testing including CDH1 in patients meeting criteria for hereditary diffuse gastric cancer, and found possibly pathogenic ATM mutations in 3/144 (2%) CDH1-negative probands. In addition to GC, families contained multiple cases of BC, PC and CRC (5 cases, 2 < 50). To further describe the frequency of upper and lower GI cancer in ATM+ families, we reviewed pedigrees from 20 families seen for risk assessment in two high-risk clinics and found to have germline ATM mutations. Methods: Pedigrees from ATM+ families evaluated at Fox Chase Cancer Center and the University of Chicago are included in this analysis. Cancer type, age at diagnosis, number of genes clinically tested, and ATM mutation were collected. Cancers < 50 yrs are considered early-onset. Results: Among 20 total ATM+ families, 22 GI cancers were reported, with 5 families containing 16/22 (73%) of all GI cancers (see Table). Early-onset GI cancers were common in the 5 families (7/16, 44%), including 2/6 (33%) cases of GC, a 23 yr old man and his 45 yr old father both with GEJxn cancer (2/2, 100%), and 3/6 (50%) cases of CRC all from one large family. Conclusions: Our data lend evidence to support the need for early CRC and GC screening in ATM+ patients. [Table: see text]
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Gazzoli, I., C. De Andreis, S. M. Sirchia, P. Sala, C. Rossetti, L. Bertario i G. Colucci. "Molecular Screening of Families Affected by Familial Adenomatous Polyposis (FAP)". Journal of Medical Screening 3, nr 4 (grudzień 1996): 195–99. http://dx.doi.org/10.1177/096914139600300407.
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Objectives— To assess the risk of developing familial adenomatous polyposis (FAP) in presymptomatic individuals using APC gene flanking and intragenic polymorphic markers. Setting— Twenty families enrolled in the Italian Registry of Polyposis comprising a total of 217 individuals, including 53 (24%) presymptomatic subjects with a 50% a priori risk of FAP, were analysed. Direct analysis techniques had previously failed to identify the FAP mutation in these families. Methods— DNA isolated from peripheral mononuclear blood cells and tissue sections was analysed by the polymerase chain reaction and a panel of seven highly polymorphic markers—YN5.64, CB83, CB26, LNS, APC1458.5, MBC, 37AB. Amplification products were separated by a modified denaturing gel electrophoresis method. Results— The haplotype associated with the disease was identified in 18 families (90%). The segregation of the FAP haplotype in these kindreds showed that 10 presymptomatic individuals had inherited the FAP mutation and carried a high risk of developing the disease. The remaining two families were not informative because of the lack of a sufficient number of probands or biological specimens. Conclusions— These data indicate that indirect analysis with linked DNA markers has a high rate of success in defining the risk of FAP of presymptomatic subjects, provided that a sufficient number of probands or samples is available. Uninformative families accounted for 10% of the total, indicating that linkage analysis may still have higher sensitivity than direct mutation analysis techniques. The combined use of both approaches should be implemented, however, to enhance further the application of molecular genetics to the screening of families with FAP.
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Guillen-Ponce, Carmen, Evelina Mocci, Mirari Marquez, Julie Earl, Carmen T. Guerrero, Maria Teresa Salazar, Maria Celia Calcedo, Francisco X. Real, Nuria Malats i Alfredo Carrato. "Spanish registry and screening program for families at high risk of pancreatic adenocarcinoma." Journal of Clinical Oncology 30, nr 4_suppl (1.02.2012): 192. http://dx.doi.org/10.1200/jco.2012.30.4_suppl.192.
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192 Background: 5-10% of pancreatic cancer (PC) cases show familial aggregation. 20% of these correspond to syndromes: Peutz Jeghers, hereditary pancreatitis, familial multiple melanoma, breast and ovarian cancer (HBOC) and others. Familial pancreatic cancer (FPC) is defined as: ≥2 first degree relatives with PC and with no other known syndromes. FPC seems to have autosomal dominant inheritance, but the genetic cause is unknown. Methods: The objectives are: 1) To develop the first FPC Spanish Registry, connecting different groups interested in this disease 2) To study inheritance, phenotypic and molecular characteristics of the FPC, and families with early PC 3) To establish a strategy for early detection of PC in high-risk individuals and to implement it 4) To characterize preneoplastic lesions and diagnosed PC by monitoring high-risk individuals. 16 Spanish hospitals are participating. This study has two components: 1) Cohort to identify families with FPC and hereditary PC. Sources for the families are the PanGen-ES Study, a case-control study of PC which identifies families through a questionnaire on family history of cancer, and Genetic Counseling Units, 2) Cohort of high-risk families. The latter will be followed up by endoscopic ultrasound (EUS) and CT ± abdominal magnetic resonance imaging. In addition, circulating tumor cells (CTC) in peripheral blood will be determined. Results: The assessment of family history of the 421 cases included in the PanGen Study has identified 32 (7.6%) families with FPC and 52 patients with PC ≤ 50 years (12.4%). In addition, the 190 families presenting PC aggregation with other neoplasms are being further evaluated. At this time we have obtained clinical data and blood samples to carry out molecular studies of 23 individuals: 17 belonging to 3 families with FPC, and 6 members of 2 families with an HBOC with some cases of pancreatic cancer. 18 relatives at risk began a follow-up with EUS and CT, with no detection of any suspicious pancreatic lesion; also CTC have not been detected. Conclusions: This initiative will permit to know more about FPC and will serve to evaluate protocols and PC markers in screening the high-risk population, and promote connections with other international groups.
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Siti Maryam, Raden. "Description of the Care Burden for a family with an elderly risk of dementia". Enfermería Global 22, nr 1 (3.01.2023): 426–47. http://dx.doi.org/10.6018/eglobal.537891.
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Introduction: Dementia is one of the leading causes of dependence among the elderly worldwide and has a physical, psychological, social, and economic impact, especially on their families. Early recognition of the caring burden for the elderly at risk of dementia is important to prevent deterioration. Objective: This study aims to obtain an overview of the care burden for the elderly at risk of dementia in the community. Methods: This descriptive study involves a population of all the elderly living with their families in the Jakarta area with a random sampling of 168 respondents. The screening instrument for modifying the care burden of families consists of 21 items. Results: Most elderly are at risk of dementia, accounting for 72%, 73.2% have a chronic disease, and 73.8% are still independently doing BADL. Furthermore, 58.3% of the families have a low burden of care. Conclusion: The burden experienced by the elderly and their families influences their life quality. It is hoped that families with older members continue to improve and maintain their quality of life by remaining active and productive in fulfilling their needs and pleasures. Introducción: La demencia es una de las principales causas de dependencia entre los adultos mayores a nivel mundial y tiene un impacto físico, psicológico, social y económico, especialmente en sus familias. El reconocimiento temprano de la carga del cuidado de los ancianos con riesgo de demencia es importante para prevenir el deterioro.Objetivo: Este estudio tiene como objetivo obtener una visión general de la carga de cuidado de los ancianos en riesgo de demencia en la comunidad.Métodos: Este estudio descriptivo involucra una población de todas las personas mayores que viven con sus familias en el área de Yakarta con una muestra aleatoria de 168 encuestados. El instrumento de tamizaje para modificar la carga de cuidado de las familias consta de 21 ítems.Resultados: La mayoría de los ancianos están en riesgo de demencia, representando el 72%, el 73,2% tiene una enfermedad crónica y el 73,8% todavía está haciendo ABVD de forma independiente. Además, el 58,3% de las familias tienen una baja carga de cuidado.Conclusión: La sobrecarga vivida por los ancianos y sus familias influye en su calidad de vida. Se espera que las familias con miembros mayores continúen mejorando y manteniendo su calidad de vida manteniéndose activas y productivas para satisfacer sus necesidades y placeres.
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Coleman, E. A., H. Lynch, C. Enderlin, C. B. Stewart, R. Kennedy i B. Barlogie. "Determining familial risk of multiple myeloma". Journal of Clinical Oncology 25, nr 18_suppl (20.06.2007): 8111. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.8111.
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8111 Background: The etiology of multiple myeloma (MM) remains unknown although genetic and environmental factors have been implicated. Familial MM has been reported; however, whether this familial tendency is due to genetic factors or environmental exposures or both is not known. Analysis of SEER data showed that Iowa, an agricultural state, had the highest incidence of MM; however, once we adjusted for race, sex, age, and year of diagnosis, the effect of geographic area was small and the main effect was race. This project aims to build a Familial MM Registry of families and investigate the families’ pedigrees and environmental factors to determine the familial risk of MM. The long term goal is to identify myeloma susceptibility loci which ultimately could lead to finding myeloma prone germline mutations. Methods: Patients (n = 67) from the Myeloma Institute for Research and Therapy at the University of Arkansas for Medical Sciences and their family members with MM or a related malignancy (amyloidoses, lymphoma, chronic lymphocytic leukemia, chronic myelogenous leukemia, Waldenstrom's macroglobulinemia, Hairy cell leukemia, acute myelogenous leukemia, acute lymphocytic leukemia, Hodgkin's disease) were interviewed for environmental factors associated with MM and for family history data to complete pedigrees. Pedigrees were analyzed to determine the patterns of inheritance. Results: Data show that 26 patients (39%) have family members with MM (one having five family members with MM) and 34 patients (51%) have family members with related malignancies. Eighteen families (27%) have a putative autosomal dominant mode of genetic transmission of MM. Pancreatic cancer, malignant melanoma, breast cancer and lymphoma may be part of a myeloma syndrome. Pesticide/insecticide exposure, raising cattle or growing cotton were the most prevalent environmental risk factors. Conclusions: The pedigrees suggest the existence of genetic traits affecting MM susceptibility. This work will be part of the efforts to create an international consortium to study familial MM. Research in the area of molecular epidemiology is needed to discover the genetic and environmental determinants of this disease and the reasons for the racial and gender differences. No significant financial relationships to disclose.
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Pasquale, L., G. Sciuto, S. Cocchi, P. Ronchi i L. Bellodi. "A family study of obsessive compulsive, eating and mood disorders". European Psychiatry 9, nr 1 (1994): 33–38. http://dx.doi.org/10.1017/s0924933800003175.
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SummaryWe calculated Morbidity Risks (MR%) for the major psychiatric conditions in the families of three groups of patients, affected by Eating Disorders (ED; n = 41), Obsessive Compulsive Disorder (OCD; n = 70) and Mood Disorders (MD; n = 39). Our aim was to verify the hypothesis of a common familial pattern of aggregation. Familial risk of developing OCD was significantly increased in the families of OCD probands. Homotypic cases were also augmented in ED and MD families with respect to the rates of the general population, although without statistical significance in the crosswise comparisons. These results confirm the existence of a genetic susceptibility to the development of OCD.
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Santana, Laís Souza da Veiga, i Evaldo Almeida da Silva. "Implantação da estratificação de risco familiar em unidade de saúde". Revista Recien - Revista Científica de Enfermagem 12, nr 37 (15.03.2022): 435–41. http://dx.doi.org/10.24276/rrecien2022.12.37.435-441.
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O objeto desse estudo foi à implantação da estratificação de risco familiar de Coelho-Savassi como instrumento de priorização das visitas domiciliares na Atenção Primária a Saúde. Objetiva priorizar as visitas de acordo com o grau de vulnerabilidade familiar e organizar o processo de trabalho. Este estudo trás o relato de experiência realizada em uma Unidade de Saúde da Família pelo pesquisador durante o mês de setembro de 2019, na qual analisa 25 famílias de cinco microáreas através da estratificação de risco familiar. As famílias classificadas como de risco máximo (R3) constituiu 44% (n=11), enquanto os demais riscos considerados médio (R2) e menor (R1) foram equivalentes a 24% (n=6) cada um e sem risco (R0) 8% (n=2). Observou-se que famílias consideradas de risco máximo foram predominantes em relação aos demais riscos. Essa estratificação viabilizou o planejamento das ações de saúde priorizando o grau de risco para determinar as frequências dessas visitas.
Descritores: Atenção Primária à Saúde, Estratégia Saúde da Família, Visita Domiciliar, Classificação.
Implementation of family risk stratification in a health unit
Abstract: The object of this study was the implementation of the Coelho-Savassi family risk stratification as an instrument for prioritizing home visits in Primary Health Care. It aims to prioritize visits according to the degree of family vulnerability and organize the work process. This study brings the experience report carried out in a Family Health Unit by the researcher during the month of September 2019, in which he analyzes 25 families from five micro-areas through family risk stratification. Families classified as maximum risk (R3) constituted 44% (n=11), while the other risks considered medium (R2) and lower (R1) were equivalent to 24% (n=6) each and without risk (R0) 8% (n=2). It was observed that families considered to be at maximum risk were predominant in relation to other risks. This stratification enabled the planning of health actions prioritizing the degree of risk to determine the frequency of these visits.
Descriptors: Primary Health Care, Family Health Strategy, Home Visit, Classification.
Implementación de la estratificación de riesgo familiar en una unidad de salud
Resumen: El objeto de este estudio fue la implementación de la estratificación del riesgo familiar Coelho-Savassi como instrumento para priorizar las visitas domiciliarias en Atención Primaria de Salud, con el objetivo de priorizar las visitas según el grado de vulnerabilidad familiar y organizar el proceso de trabajo. Este estudio trae el relato de experiencia realizada en una Unidad de Salud de la Familia por el investigador durante el mes de septiembre de 2019, en el que analiza a 25 familias de 5 microáreas a través de la estratificación del riesgo familiar. Las familias clasificadas como de máximo riesgo (R3) constituyeron el 44% (n = 11), mientras que los demás riesgos considerados medio (R2) y menor (R1) fueron equivalentes al 24% (n = 6) cada una y sin riesgo (R0) al 8% (n = 2). Se observó que las familias consideradas de máximo riesgo predominaron en relación a otros riesgos. Esta estratificación permitió planificar acciones de salud priorizando el grado de riesgo para determinar la frecuencia de estas visitas.
Descriptores: Atención Primaria de Salud, Estrategia de Salud de la Familia, Visita a Casa, Clasificación.
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Chang-Claude, Jenny, Heiko Becher, Maria Caligo, Diana Eccles, Gareth Evans, Neva Haites, Shirley Hodgson, Pål Møller, Bernhard H. F. Weber i Dominique Stoppa-Lyonnet. "Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes". Disease Markers 15, nr 1-3 (1999): 53–65. http://dx.doi.org/10.1155/1999/238375.
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For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different methods including SSCP, CSGE, DGGE, FAMA and PTT analysis followed by direct sequencing. Germ-line BRCA1 mutations were detected in 132 families and BRCA2 mutations in 16 families. The probability of being a carrier of a dominant breast cancer gene was calculated for the screened individual under the established genetic model for breast cancer susceptibility, first, with parameters for age-specific penetrances for breast cancer only [7] and, second, with age-specific penetrances for ovarian cancer in addition [20]. Our results indicate that the estimated probability of carrying a dominant breast cancer gene gives a direct measure of the likelihood of detecting mutations in BRCA1 and BRCA2. For breast/ovarian cancer families, the genetic model according to Narod et al. [20] is preferable for calculating the proband's genetic risk, and gives detection rates that indicate a 50% sensitivity of the gene test. Due to the incomplete BRCA2 screening of the families, we cannot yet draw any conclusions with respect to the breast cancer only families.
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McIntosh, A., H. Whalley i E. Sprooten. "EPA-1465 – Polygenic risk of depression and prediction of illness in families at high familial risk". European Psychiatry 29 (2014): 1. http://dx.doi.org/10.1016/s0924-9338(14)78658-4.
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Choi, Yun-Hee, Hae Jung, Saundra Buys, Mary Daly, Esther M. John, John Hopper, Irene Andrulis, Mary Beth Terry i Laurent Briollais. "A competing risks model with binary time varying covariates for estimation of breast cancer risks in BRCA1 families". Statistical Methods in Medical Research 30, nr 9 (7.07.2021): 2165–83. http://dx.doi.org/10.1177/09622802211008945.
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Mammographic screening and prophylactic surgery such as risk-reducing salpingo oophorectomy can potentially reduce breast cancer risks among mutation carriers of BRCA families. The evaluation of these interventions is usually complicated by the fact that their effects on breast cancer may change over time and by the presence of competing risks. We introduce a correlated competing risks model to model breast and ovarian cancer risks within BRCA1 families that accounts for time-varying covariates. Different parametric forms for the effects of time-varying covariates are proposed for more flexibility and a correlated gamma frailty model is specified to account for the correlated competing events.We also introduce a new ascertainment correction approach that accounts for the selection of families through probands affected with either breast or ovarian cancer, or unaffected. Our simulation studies demonstrate the good performances of our proposed approach in terms of bias and precision of the estimators of model parameters and cause-specific penetrances over different levels of familial correlations. We applied our new approach to 498 BRCA1 mutation carrier families recruited through the Breast Cancer Family Registry. Our results demonstrate the importance of the functional form of the time-varying covariate effect when assessing the role of risk-reducing salpingo oophorectomy on breast cancer. In particular, under the best fitting time-varying covariate model, the overall effect of risk-reducing salpingo oophorectomy on breast cancer risk was statistically significant in women with BRCA1 mutation.
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Loescher, Lois, Janice Crist, Lee Cranmer, Clara Curiel-Lewandrowski i James Warneke. "Melanoma High-Risk Families' Perceived Health Care Provider Risk Communication". Journal of Cancer Education 24, nr 4 (październik 2009): 301–7. http://dx.doi.org/10.1080/08858190902997290.
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Jans, D., H. S. Lee, M. Ferrante, S. Vermeire i I. Cleynen. "P901 A genetic analysis of familial aggregation in Inflammatory Bowel Disease multiplex families". Journal of Crohn's and Colitis 17, Supplement_1 (30.01.2023): i1013—i1015. http://dx.doi.org/10.1093/ecco-jcc/jjac190.1031.
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Abstract Background Relatives of patients with inflammatory bowel disease (IBD) have a higher risk to develop IBD than the general population. In some families, even a remarkably high prevalence of disease is found. Here, we aim to determine the role of the known IBD risk loci in familial aggregation of disease, as well as to study if there are common variants specific to familial IBD. Methods Imputed immunochip genotypes of 55 families [157 Crohn’s disease (CD), 29 ulcerative colitis (UC) and 138 unaffected relatives] that have at least three affected, first-degree relatives were used. A sporadic dataset (1705 CD, 917 UC, 873 controls) was used for comparison. For each individual, a polygenic risk score (PRS) was calculated with PRSice based on the IBD summary statistics of de Lange et al (2017), a p-value threshold ≤0.01 and MAF≥0.01. The mean PRS of all relatives of one family is denoted the familial PRS. Family-based association analyses were performed with SAIGE. The significance threshold for association used was p<1e-4. Results As a group, unaffected relatives have a lower PRS than affected relatives (p=1.36e-5, β(se)=-0.60(0.14)), but still higher than unrelated controls (p=2.07e-4, β(se)=0.39(0.11))(fig 1). Twenty-four families have a familial PRS that is higher than the mean PRS of sporadic cases, and seven families have a familial PRS that is lower than the mean PRS of unrelated controls, the low PRS families (fig 2A). In most families, the affected members have a higher mean PRS than the unaffected members (fig 2B). This relationship however is sometimes reversed, especially in the low PRS families. SAIGE found nine variants to be associated with familial IBD (fig 3A, table 1). Two independently associated variants, rs2241130 in IL1RL2 (p=1.19 e-5, β(se)=1.21(0.28)) and rs144641193 in IL1RL1 (p=8.23e-5, β(se)=1.29(0.33)) reside in a known IBD locus (IL18RAP). Some other identified variants were also located in genes previously implicated in IBD, either through GWAS [rs72781786 in PRKCQ (p=2.93e-5, β(se)= -0.95(0.23))], or via functional studies (rs2242601 in EPHA1 and rs2272766 in CTSB). A restricted analysis of the low PRS families identified only one significant variant: rs11579543, located between RPE65 and DEPDC1 (p=6.12e-5, β(se)=-2.71(0.68))(fig 3B, table 1). Conclusion Our analysis indicates that common risk variants play an important role in familial aggregation of disease in many multiplex families. Some families however have a very low polygenic risk, indicating shared environmental factors might be relatively more important, or genetic factors not captured by the score, e.g. rare variants, may have contributed. Also, a few loci are specifically implicated in familial IBD, some related to the immune system, e.g. CLECL1 and CD69.
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Metzger i Schnider. "Prophylactic Surgery in Families with Familial Adenomatous Polyposis (FAP) and in Colitis". Swiss Surgery 7, nr 6 (1.12.2001): 278–80. http://dx.doi.org/10.1024/1023-9332.7.6.278.
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Colorectal cancer is the second most common cause of death from malignant tumors in western countries with approximately 3800 new cases/year in Switzerland. For individuals known to be at high risk for the development of colorectal cancer, screening, chemoprevention and/or prophylactic surgery are the only tools to avoid unnecessary premature death from this disease. With modern molecular and/or genetic testing the risk of developing colorectal cancer can be more precisely estimated on an individualized basis. These individuals need to be enrolled in strong surveillance programs and are clear candidates for prophylactic surgery. The risk of prophylactic surgery (morbidity, mortality, quality of life following surgery) must be clearly weighted against the increasing risk of cancer. These patients should be treated in experienced centers for colorectal surgery in close connection with a genetic testing and counseling team, a molecular laboratory and a psychological support group.
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Mescheriakova, Julia Y., Linda Broer, Simin Wahedi, André G. Uitterlinden, Cornelia M. van Duijn i Rogier Q. Hintzen. "Burden of genetic risk variants in multiple sclerosis families in the Netherlands". Multiple Sclerosis Journal - Experimental, Translational and Clinical 2 (1.01.2016): 205521731664872. http://dx.doi.org/10.1177/2055217316648721.
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Background Approximately 20% of multiple sclerosis patients have a family history of multiple sclerosis. Studies of multiple sclerosis aggregation in families are inconclusive. Objective To investigate the genetic burden based on currently discovered genetic variants for multiple sclerosis risk in patients from Dutch multiple sclerosis multiplex families versus sporadic multiple sclerosis cases, and to study its influence on clinical phenotype and disease prediction. Methods Our study population consisted of 283 sporadic multiple sclerosis cases, 169 probands from multiplex families and 2028 controls. A weighted genetic risk score based on 102 non-human leukocyte antigen loci and HLA-DRB1*1501 was calculated. Results The weighted genetic risk score based on all loci was significantly higher in familial than in sporadic cases. The HLA-DRB1*1501 contributed significantly to the difference in genetic burden between the groups. A high weighted genetic risk score was significantly associated with a low age of disease onset in all multiple sclerosis patients, but not in the familial cases separately. The genetic risk score was significantly but modestly better in discriminating familial versus sporadic multiple sclerosis from controls. Conclusion Familial multiple sclerosis patients are more loaded with the common genetic variants than sporadic cases. The difference is mainly driven by HLA-DRB1*1501. The predictive capacity of genetic loci is poor and unlikely to be useful in clinical settings.
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Sittner, Barbara J., John DeFrain i Diane Brage Hudson. "Effects of HIGH-RISK PREGNANCIES on Families". MCN, The American Journal of Maternal/Child Nursing 30, nr 2 (marzec 2005): 121–26. http://dx.doi.org/10.1097/00005721-200503000-00010.
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LaFleur, William R., Saigyo i Meredith McKinney. "Families-at-Risk in a Medieval Tale". Monumenta Nipponica 56, nr 1 (2001): 93. http://dx.doi.org/10.2307/2668452.
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Ross, Gail. "At Risk Infants: Intervention, Families and Research". Journal of Developmental & Behavioral Pediatrics 15, nr 1 (luty 1994): 53. http://dx.doi.org/10.1097/00004703-199402000-00009.
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Tomlin, Angela M., i Azar Hadadian. "Early intervention providers and high‐risk families". Early Child Development and Care 177, nr 2 (luty 2007): 187–94. http://dx.doi.org/10.1080/03004430500379234.
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