Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.
Diagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFOrphanhood and caregiver death among children in the United States by all-cause mortality, 2000-2021.
Nat Med
January 2025
Department of Mathematics, Imperial College London, London, UK.
Deaths of parents and grandparent caregivers threaten child well-being owing to losses of care, financial support, safety and family stability, but are relatively unrecognized as a public health crisis. Here we used cause-specific vital statistics death registrations in a modeling approach to estimate the full magnitude of orphanhood incidence and prevalence among US children aged 0-17 years between 2000 and 2021 by cause, child age, race and ethnicity, sex of deceased parent and state, and also accounted for grandparent caregiver loss using population survey data. In 2021, we estimate that 2.
View Article and Find Full Text PDFThe Grief of Older Parents Over the Loss of a Child: A Scoping Review.
Omega (Westport)
January 2025
Iranian Research Center on Aging, Department of Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Aging brings physical, psychological, and social changes, often accompanied by significant life events like the death of a loved one. One of the most devastating losses is the death of a child, which profoundly impacts older parents. This scoping review examines 47 studies on the effects of such grief, highlighting increased death anxiety, elevated mortality risk, psychological distress, and the role of social isolation in intensifying grief.
View Article and Find Full Text PDFERK activation dynamics in maturing oocyte controls embryonic nuclear divisions in Caenorhabditis elegans.
Cell Rep
January 2025
Genetics and Epigenetics Program, University of Texas MD Anderson Cancer Center and The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences, Houston, TX, USA; Department of Genetics, University of Texas MD Anderson Cancer Center and The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences, Houston, TX, USA. Electronic address:
ERK activity oscillates between sustained activation during oocyte formation and transient inactivation during oocyte maturation, fertilization, and early embryogenesis. Consequences of ectopic ERK activity upon oocyte maturation and in early embryogenesis are unknown. We show, in Caenorhabditis elegans, that ectopic ERK activity upon oocyte maturation (metaphase I oocytes) results in embryos with abnormalities in nuclear divisions leading to embryonic death.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!