Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neurogenetics"
DOI: 10.1080/01677063.2021.1940172
Abstract: Spinocerebellar Ataxia (SCA) is a heterogeneous adult-onset disorder with an autosomal dominant inheritance pattern mainly caused by triplet repeat expansions. Clinical diagnosis of SCA is based on phenotypic features followed by confirmation through molecular diagnosis.… read more here.
Keywords: spinocerebellar ataxia; sca; family screening; family ... See more keywords
Family screening in inherited cardiac conditions: predicting likelihood of a diagnosis
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Preventive Cardiology"
DOI: 10.1093/eurjpc/zwad125.006
Abstract: Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): Cardiovascular Research Scholarship awarded by 'Research, Innovation and Development Trust (University of Malta)', kindly donated by Beating Hearts Malta. Scholarship awarded by Tertiary Education… read more here.
Keywords: family; likelihood diagnosis; diagnosis; family screening ... See more keywords
246: SUDDEN CARDIAC DEATH IN TWO YOUNG AMISH BROTHERS: THE IMPORTANCE OF FAMILY SCREENING
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DOI: 10.1097/01.ccm.0000619340.87727.b4
Abstract: Introduction: Sudden cardiac death (SCD) in the young is often caused by hereditary cardiomyopathies and primary arrhythmia syndromes. Family screening in these situations can prevent further SCD events. We present a case of SCD in… read more here.
Keywords: family screening; young amish; two young; cardiac death ... See more keywords
Prevalence and characteristics of family history of sudden unexplained death and predictors of negative attitude of family members toward medical autopsy and family screening in Saudi Arabia: A cross-sectional study
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DOI: 10.1371/journal.pone.0277914
Abstract: Introduction Little is known about sudden unexplained death (SUD) in Saudi Arabia. Moreover, family screening and medical autopsy are not routinely performed due to perceived religious and cultural resistance. However, this has never been systematically… read more here.
Keywords: family; family members; family screening; medical autopsy ... See more keywords
Family Screening After Sudden Death in a Population-Based Study of Children.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatrics"
DOI: 10.1542/peds.2021-054432
Abstract: In a US population-based registry of sudden death in the young, this study performed familial evaluation of surviving relatives. read more here.
Keywords: family screening; population based; study; sudden death ... See more keywords