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Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.
JACC Clin Electrophysiol
December 2024
Office of the Chief Medical Examiner, City and County of San Francisco, San Francisco, California, USA.
Background: Sudden cardiac death (SCD) genetic studies neglect the majority occurring in older decedents with cardiovascular pathology.
Objectives: This study sought to determine the burden of genetic disease in unselected adult sudden deaths by precision genotype-postmortem phenotype correlation.
Methods: The authors used autopsy, histology, and toxicology to adjudicate cause and identify high-suspicion phenotypes (eg, hypertrophic cardiomyopathy) among presumed SCDs aged 18 to 90 years referred to the county medical examiner from February 2011 to January 2018.
The retinal pigment epithelium (RPE) is a monolayer of pigmented cells which plays an essential role in visual function via its interaction with the adjacent neural retina. Typically hexagonal in shape and arranged in a mosaic-like pattern, RPE cells maintain a relatively uniform size and arrangement in healthy eyes. Under stress or disease conditions such as age-related macular degeneration (AMD) and other heritable vision disorders, individual RPE cell dysmorphia has been observed.
View Article and Find Full Text PDFWhere is the nature in nature-based flood management? Biodiversity is not considered enough.
Sci Total Environ
December 2024
ICON Science Research Group, RMIT University, Melbourne, Victoria, Australia.
The rise of Nature-based Solutions (NbS) represents a shift toward design approaches that harness and facilitate natural processes for more holistic climate, biodiversity, and human wellbeing outcomes. Biodiversity and water are considered critical foundations of ecosystem function and service provision. However, without adequate measurement of biodiversity impacts, the interventions related to NbS or 'Nature-based Interventions' (NbI) risk assuming biodiversity co-benefits that may be non-existent or sub-optimal.
View Article and Find Full Text PDFAssociations Between Mosaic Loss of Sex Chromosomes and Incident Hospitalization for Atrial Fibrillation in the United Kingdom.
J Am Heart Assoc
November 2024
Epidemiology and Community Health Branch, National Heart, Lung, and Blood Institute Bethesda MD.
Background: Mosaic loss of chromosome Y (mLOY) in leukocytes of men reflects genomic instability from aging, smoking, and environmental exposures. A similar mosaic loss of chromosome X (mLOX) occurs among women. However, the associations between mLOY, mLOX, and risk of incident heart diseases are unclear.
View Article and Find Full Text PDFClinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
J Cutan Pathol
December 2024
Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Article Synopsis
- Basal cell nevus syndrome (BCNS) can lead to multiple early-onset basal cell carcinomas (BCCs), with some cases linked to germline SUFU mutations, resulting in varying phenotypes, including multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC).
- A study involving three patients with the MHIBCC phenotype identified new pathogenic SUFU variations, highlighting the different health risks associated with these mutations compared to other types of BCNS.
- It’s important for healthcare providers to recognize the MHIBCC phenotype to offer appropriate care, as the implications of germline SUFU mutations differ from those of other genetic syndromes like BCNS.
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