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Artykuły w czasopismach na temat „High risk families”

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Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 31 stycznia 2023

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1

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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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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Vieira, Viviane Cazetta de Lima, Mayckel da Silva Barreto, Verônica Francisqueti Marquete, Rebeca Rosa de Souza, Mayara Maria Johann Batista Fischer i Sonia Silva Marcon. "Vulnerability of high-risk pregnancy in the perception of pregnant women and their families". Rev Rene 20 (25.04.2019): e40207. http://dx.doi.org/10.15253/2175-6783.20192040207.

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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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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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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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Narod, Steven A. "Screening for cancer in high risk families". Clinical Biochemistry 28, nr 4 (sierpień 1995): 367–72. http://dx.doi.org/10.1016/0009-9120(95)00022-2.

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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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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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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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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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Nair, Aarti, Ajay Sharma, Sandeep Kumar i Manish Jha. "Working with Families Using a Family-Centered Approach for Improved Development Outcomes in High-Risk Children". Physiotherapy and Occupational Therapy Journal 14, nr 1 (31.03.2021): 9–17. http://dx.doi.org/10.21088/potj.0974.5777.14121.1.

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Introduction: Around the world, almost half of all deaths in children under five occur in the newborn period. Ninety-nine percent of newborn deaths are in low- and middle-income countries and prematurity, intrapartumrelated neonatal deaths (‘birth asphyxia’), sepsis and meningitis account for 75% of these1. Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in “language, mobility, learning, self-help, and independent living”2. Aim of Study: To analyze the impact of family centered-approach on child’s development outcomes. To quantify and validate the advantages of family-centered- approach for parents and children. Method: A low-cost, family-centered intervention programme to promote child and family wellbeing is provided at an Early Intervention Centre in Latika Roy Foundation, Dehradun, India. It follows a familycentered approach of empowering families through respect, collaboration, information, training and support. The effectiveness of this methodology is evaluated in this study. Discussion: This study evaluates the effectiveness of this family-centred interventions programme, provided by early intervention Centre, for improving development outcomes of high-risk infants. This study explores, for the first time in a resource limited country, the relationship between the reduction of family stress achieved through a family empowerment programme and improvement in development outcomes of high-risk children. Families of High-risk infants enrolled at the Centre during January 2015 through July 2017, who were in NICU for 5 or >5 days are partners in the study. Conclusion: The importance of family-centred care cannot be over-emphasized. Early intervention services and support to families can significantly improve quality of life of high-risk children. Intervention studies for children with disability state that the best way of improving children’s outcomes is by empowering parents through a structured learning programme. Given the scope and potential of such programs, this study quantifies and validates the advantages of the family-centred approach.

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13

Stith, Sandra M., Lisa Kaplan i Judith L. Girard. "Strengthening High-Risk Families: A Handbook for Practitioners". Family Relations 44, nr 2 (kwiecień 1995): 225. http://dx.doi.org/10.2307/584816.

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Lazenbatt, Anne, i Julie Taylor. "Special Issue: Physical Abuse in High Risk Families". Child Care in Practice 19, nr 3 (lipiec 2013): 217–20. http://dx.doi.org/10.1080/13575279.2013.795354.

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Pisanelli, M. B., E. Panizza, F. Carbonardi, C. Iridile, M. G. Cavazzini, S. Carra, M. Cantore i F. Adami. "Cancer with BRCA mutations in high-risk families". Annals of Oncology 26 (październik 2015): vi14. http://dx.doi.org/10.1093/annonc/mdv336.35.

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Dunlop, Malcolm G. "The case for surveillance of 'high-risk' families". European Journal of Gastroenterology & Hepatology 10, nr 3 (marzec 1998): 229–34. http://dx.doi.org/10.1097/00042737-199803000-00007.

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Hill, Shirley Y., Stuart R. Steinhauer, Timothy R. Smith i Jeannette Locke. "Risk markers for alcoholism in high-density families". Journal of Substance Abuse 3, nr 3 (styczeń 1991): 351–69. http://dx.doi.org/10.1016/s0899-3289(10)80018-5.

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Greenhalf, W., C. Grocock, M. Harcus i J. Neoptolemos. "Screening of High-Risk Families for Pancreatic Cancer". Pancreatology 9, nr 3 (maj 2009): 215–22. http://dx.doi.org/10.1159/000210262.

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Brand, Randall E., i Henry T. Lynch. "Identification of high-risk pancreatic cancer-prone families". Gastroenterology Clinics of North America 33, nr 4 (grudzień 2004): 907–18. http://dx.doi.org/10.1016/j.gtc.2004.07.011.

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Farber, Michaela L. Z., i Ravita Maharaj. "Empowering High-Risk Families of Children With Disabilities". Research on Social Work Practice 15, nr 6 (listopad 2005): 501–15. http://dx.doi.org/10.1177/1049731505276412.

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McCance, Kathryn L., Louise Eutropius, Maeona K. Jacobs i Roger R. Williams. "Preventing coronary heart disease in high-risk families". Research in Nursing & Health 8, nr 4 (grudzień 1985): 413–20. http://dx.doi.org/10.1002/nur.4770080414.

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Weissman, Myrna M., Priya Wickramaratne, Yoko Nomura, Virginia Warner, Helen Verdeli, Daniel J. Pilowsky, Christian Grillon i Gerard Bruder. "Families at High and Low Risk for Depression". Archives of General Psychiatry 62, nr 1 (1.01.2005): 29. http://dx.doi.org/10.1001/archpsyc.62.1.29.

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Chubb, Daniel, Peter Broderick, Matthew Frampton, Ben Kinnersley, Amy Sherborne, Steven Penegar, Amy Lloyd, Yussanne P. Ma, Sara E. Dobbins i Richard S. Houlston. "Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing". Journal of Clinical Oncology 33, nr 5 (10.02.2015): 426–32. http://dx.doi.org/10.1200/jco.2014.56.5689.

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Purpose Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer (CRC) is relevant to the counseling, treatment, and surveillance of CRC patients and families. Patients and Methods To quantify the impact of germline mutation to familial CRC, we sequenced the mismatch repair genes (MMR) APC, MUTYH, and SMAD4/BMPR1A in 626 early-onset familial CRC cases ascertained through a population-based United Kingdom national registry. In addition, we evaluated the contribution of mutations in the exonuclease domain (exodom) of POLE and POLD1 genes that have recently been reported to confer CRC risk. Results Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest contribution to familial CRC (10.9%). Mutations in the other established CRC genes account for 3.3% of cases. POLE/POLD1 exodom mutations were identified in three patients with family histories consistent with dominant transmission of CRC. Collectively, mutations in the known genes account for 14.2% of familial CRC (89 of 626 cases; 95% CI = 11.5, 17.2). Conclusion A genetic diagnosis is feasible in a high proportion of familial CRC. Mainstreaming such analysis in clinical practice should enable the medical management of patients and their families to be optimized. Findings suggest CRC screening of POLE and POLD1 mutation carriers should be comparable to that afforded to those at risk of HNPCC. Although the risk of CRC associated with unexplained familial CRC is in general moderate, in some families the risk is substantive and likely to be the consequence of unidentified genes, as exemplified by POLE and POLD1. Our findings have utility in the design of genetic analyses to identify such novel CRC risk genes.

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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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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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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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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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Montgomery, Kristen S. "Resource Column: Web Site Resources for High-Risk Families". Journal of Perinatal Education 11, nr 1 (styczeń 2002): 45–48. http://dx.doi.org/10.1624/105812402x88614.

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The Internet serves as an excellent resource for childbirth educators in their search for information and education to share with high-risk families who are in need of support to help them cope with complicated pregnancies.

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Hahn, Ellen J., Lynne A. Hall i Mary Rado Simpson. "Drug Prevention with High Risk Families and Young Children". Journal of Drug Education 28, nr 4 (grudzień 1998): 327–45. http://dx.doi.org/10.2190/g8tm-5l8n-qp1e-a8rl.

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Dembo, Richard, Kathleen A. Cervenka, Brian Hunter, Wei Wang i James Schmeidler. "Engaging high risk families in community based intervention services". Aggression and Violent Behavior 4, nr 1 (marzec 1999): 41–58. http://dx.doi.org/10.1016/s1359-1789(97)00028-1.

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da Luz Giroldo, Marcieli, Liz Andréa Villela Baroncini, Ana Flávia Champoski, Ana Carla, Broetto Biazon, Aline Isolane, Diego Castro Musial i Dalton Bertolim Précoma. "Household cardiovascular screening in adolescents from high-risk families". Atherosclerosis 226, nr 1 (styczeń 2013): 286–90. http://dx.doi.org/10.1016/j.atherosclerosis.2012.10.073.

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Esteban, Irene, Sandra Bonache, Neus Gadea, Ana Tenes, Estela Carrasco, Judith Balmaña, Sara Gutierrez-Enríquez i Orland Díez. "Multiplex testing in high risk BRCA1/2-negative families." Journal of Clinical Oncology 33, nr 15_suppl (20.05.2015): e12557-e12557. http://dx.doi.org/10.1200/jco.2015.33.15_suppl.e12557.

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Malarcher, Ann M., Wayne H. Giles i Muin J. Khoury. "Helping high-risk families: Medical and public health approaches". Genetics in Medicine 4, nr 4 (sierpień 2002): 239–40. http://dx.doi.org/10.1097/00125817-200207000-00001.

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Cheung, Peter. "Mutations in Families at High Risk for Breast Cancer". JAMA 296, nr 17 (1.11.2006): 2091. http://dx.doi.org/10.1001/jama.296.17.2091-a.

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Guillen, Carmen, Julie Earl, Evelina Mocci, Carme Guerrero, Jose Montans, Mirari Marquez, Enrique Vazquez Sequeiros i in. "Genetic and phenotypic characterization of families with familial pancreatic cancer and screening of high-risk individuals." Journal of Clinical Oncology 33, nr 3_suppl (20.01.2015): 242. http://dx.doi.org/10.1200/jco.2015.33.3_suppl.242.

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242 Background: The prognosis of patients diagnosed with Pancreatic Cancer (PC) is dismal with a 5-year survival rate of around 5%. Familial Pancreatic Cancer (FPC) is an autosomal dominant rare syndrome defined as families with two or more first-degree relatives with pancreatic cancer that do not fulfill the criteria of any other inherited tumor syndrome. The Spanish familial pancreatic cancer registry, Pan-Gen-FAM was established in 2009 in order to identify and manage families at high risk of developing PC. Methods: Information on the family history of cancer is collected in order to determine the phenotype of individual families and patients are offered genetic testing of known FPC associated genes pertinent to their familial syndrome. An individualized clinical screening program is devised for the early detection of a pancreatic tumor consisting of periodic monitoring by imaging techniques (EUS and MRI) and the evaluation of minimally-invasive tumor biomarkers approaches including Circulating Tumor Cells (CTC) and circulating free DNA in blood. Results: To date the registry includes 125 individuals representing some 41 families. Of 17 families tested so far BRCA2 germline mutations were detected in 5 families and a BRCA1 mutation in 1 family. 43 individuals underwent clinical screening. More pancreatic abnormalities were found by EUS (41%) than by MRI (31%). The most frequent abnormal findings were parenchymal changes associated with chronic pancreatitis. Eight cystic lesions were identified. One lesion was identified as a well differentiated neuroendocrine tumor and another was shown to have benign cytology and whilst carcinoma was found in a third patient, this patient underwent a subsequent partial pancreatectomy. The remaining patients with cystic lesions are undergoing close clinical observation. Seventy three patients underwent CTC determinations and all patients tested negative. Conclusions: Periodic screening of high risk individuals by EUS and RMI can detect small tumors and premalignant lesions. We hypothesize that these persons will have a higher probability of long-term survival than sporadic cases.

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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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Kelishadi, R., M. Hashemipour i N. Sarrafzadegan. "Evaluation of some risk factors of atherosclerosis in children of high risk families". Atherosclerosis 144 (maj 1999): 70. http://dx.doi.org/10.1016/s0021-9150(99)80273-1.

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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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Persily, Cynthia Armstrong, Linda P. Brown i Ruth York. "A MODEL OF HOME CARE FOR HIGH-RISK CHILDBEARING FAMILIES". Nursing Clinics of North America 31, nr 2 (czerwiec 1996): 327–32. http://dx.doi.org/10.1016/s0029-6465(22)00143-8.

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Lerner, Helen, i Jean Beagan. "Promoting Child Development for Hard-To-Reach High-Risk Families". Issues in Comprehensive Pediatric Nursing 9, nr 2 (styczeń 1986): 97–106. http://dx.doi.org/10.3109/01460868609094399.

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Jarvik, G. P., J. L. Stanford, E. L. Goode, R. McIndoe, S. Kolb, M. Gibbs, L. Hood i E. A. Ostrander. "Confirmation of Prostate Cancer Susceptibility Genes Using High-Risk Families". JNCI Monographs 1999, nr 26 (1.12.1999): 81–87. http://dx.doi.org/10.1093/oxfordjournals.jncimonographs.a024230.

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Greenhalf, William, Nuria Malats, Magnus Nilsson, Detlef Bartsch i John Neoptolemos. "International Registries of Families at High Risk of Pancreatic Cancer". Pancreatology 8, nr 6 (październik 2008): 566–76. http://dx.doi.org/10.1159/000159843.

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Hodges, Vanessa G., i Betty J. Blythe. "Improving Service Delivery to High-Risk Families: Home-based Practice". Families in Society: The Journal of Contemporary Social Services 73, nr 5 (maj 1992): 259–65. http://dx.doi.org/10.1177/104438949207300501.

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Practitioners constantly seek innovative ways to improve service delivery to high-risk children and families who are isolated and unlikely to seek help at an agency. Home-based practice is rapidly becoming an alternative to practice in office settings. The authors describe the enhanced assessment and intervention opportunities afforded through home-based practice. Intervention and personal management skills needed to conduct effective home-based practice are described and illustrated.

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Mcwhorter, William P., Alberto D. Hernandez, A. Wayne Meikle, Daniel A. Terreros, Joseph A. Smith, Mark H. Skolnick, Lisa A. Cannon-Albright i Harmon J. Eyre. "A Screening Study of Prostate Cancer in High Risk Families". Journal of Urology 148, nr 3 Part 1 (wrzesień 1992): 826–27. http://dx.doi.org/10.1016/s0022-5347(17)36733-2.

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JOHNSON, CAROLYN C., THERESA A. NICKLAS, MARIAN L. ARBEIT, DAVID W. HARSHA, DENISE S. MOTT, SAUNDRA M. HUNTER, WENDY WATTIGNEY i GERALD S. BERENSON. "Cardiovascular Intervention for High-Risk Families: The Heart Smart Program". Southern Medical Journal 84, nr 11 (listopad 1991): 1305–12. http://dx.doi.org/10.1097/00007611-199111000-00004.

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Kushnir, Anya, Yael Laitman, Shani Paluch Shimon, Raanan Berger i Eitan Friedman. "Germline mutations in RAD51C in Jewish high cancer risk families". Breast Cancer Research and Treatment 136, nr 3 (2.11.2012): 869–74. http://dx.doi.org/10.1007/s10549-012-2317-9.

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Helgadottir, Hildur, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Åke Borg, Håkan Olsson i Johan Hansson. "High risk of tobacco-related cancers inCDKN2Amutation-positive melanoma families". Journal of Medical Genetics 51, nr 8 (16.06.2014): 545–52. http://dx.doi.org/10.1136/jmedgenet-2014-102320.

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Agaskar, Vaibhavee R., Amy Albert i Venessa Garcia. "High‐Risk Youth and Their Families: A Qualitative Needs Assessment". Journal of Addictions & Offender Counseling 41, nr 2 (październik 2020): 66–81. http://dx.doi.org/10.1002/jaoc.12081.

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Minty, Brian. "Reaching high risk families—Intensive family preservation in human services". Journal of Adolescence 14, nr 2 (czerwiec 1991): 203–4. http://dx.doi.org/10.1016/0140-1971(91)90035-p.

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Walsh, Tom, Silvia Casadei, Elizabeth Swisher, Sunday M. Stray, Jake Higgins, Kevin C. Roach, Ming K. Lee i Mary-Claire King. "Mutations in Families at High Risk for Breast Cancer—Reply". JAMA 296, nr 17 (1.11.2006): 2091. http://dx.doi.org/10.1001/jama.296.17.2091-b.

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