Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Progerin can induce DNA damage in the absence of global changes in replication or cell proliferation.
PLoS One
December 2024
Department of Biological Sciences, University of South Carolina, Columbia, South Carolina, United States of America.
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by features of accelerated aging, and individuals with HGPS seldom live beyond their mid-teens. The syndrome is commonly caused by a point mutation in the LMNA gene which codes for lamin A and its splice variant lamin C, components of the nuclear lamina. The mutation causing HGPS leads to production of a truncated, farnesylated form of lamin A referred to as "progerin.
View Article and Find Full Text PDFCase Report: A male newborn with occipital horn syndrome.
F1000Res
November 2024
Neonatal Intensive Care Unit, King Fahad Medical City, Riyadh, Saudi Arabia.
Article Synopsis
- - Occipital horn syndrome (OHS) is a rare genetic disease linked to a defective ATP7A gene, affecting the copper transport system and primarily impacting musculoskeletal and connective tissues.
- - A male neonate diagnosed with OHS showed distinctive symptoms such as occipital exostosis, skin laxity at the nape, and widely opened skull sutures shortly after birth.
- - This case is significant as it stresses the need for thorough investigation of early symptoms and demonstrates the essential role of early diagnosis and collaborative care in improving outcomes for patients with OHS.
The first 2-year prospective audit of prenatal cell-free deoxyribonucleic screening using single nucleotide polymorphisms approach in a single academic laboratory.
J Perinat Med
October 2024
Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Objectives: We reported a performance during an implementation of prenatal cell-free (cf) DNA screening using single nucleotide polymorphism (SNP) approach in our accredited laboratory.
Methods: Prospective audit with prompt intervention was set for the processing of 2,502 samples from singleton pregnancy from August 2017 to July 2019. Risks of trisomy 21 (T21), T18, T13, monosomy X (XO), and other sex chromosome aneuploidies (SCAs) were clarified by a proprietary bioinformatics algorithm.
Rhombencephalosynapsis: A Rare Hindbrain Malformation.
Cureus
July 2024
Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Rhombencephalosynapsis (RES) is a rare condition found in the pediatric population. It occurs due to a fundamental failure of vermian differentiation caused by faulty gene expression in the earliest patterning areas of the brain between days 28 and 41 of gestation, resulting in a fused cerebellum. This report aims to discuss cases of this rare hindbrain malformation, identify its features on MRI, diagnose any associated anomalies, classify it based on severity, and study its syndromic associations.
View Article and Find Full Text PDFWho Counts? Care, Disability, and the Questionnaire in Jesse Ball's Census.
J Med Humanit
July 2024
, Greensboro, USA.
In the Biopolitics of Disability, David Mitchell and Sharon Snyder (2015) assert that disabled people are subjected to endless health and government questionnaires that harvest their data in exchange for better care. As disability advocates such as the National Disability Rights Network (2021) have demonstrated, these questionnaires-like the 2020 census-are highly flawed because disabled populations are not asked to shape the questions that will determine government funding and access to medical care. Although data collection is a source of contemporary literary and scholarly interest, few works explore this in the context of disability.
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!