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Epigenetic Control of Hyperuricemia and Gout by Gene Writer DNMT1 and RNA Editor ADAR1: Mechanism of Gout and Amyloid Dissolution in Down Syndrome.
Biochem Genet
January 2025
Department of Physiology, University of Louisville School of Medicine, Louisville, KY, 40202, USA.
Although DNA methyltransferase 1 (DNMT1) and RNA editor ADAR triplications exist in Down syndrome (DS), their specific roles remain unclear. DNMT methylates DNA, yielding S-adenosine homocysteine (SAH), subsequently converted to homocysteine (Hcy) and adenosine by S-adenosine homocysteine (Hcy) hydrolase (SAHH). ADAR converts adenosine to inosine and uric acid.
View Article and Find Full Text PDFAge-stratified Surgical Aortic Valve Replacement for Aortic Stenosis: What Does It Mean for Patients with Bicuspid Aortic Valve Disease?
J Cardiothorac Vasc Anesth
January 2025
Division of Congenital Cardiac Anesthesiology, University of Alabama at Birmingham School of Medicine, Birmingham, AL; Bruno Pediatric Heart Center, Children's of Alabama, Birmingham, AL. Electronic address:
Characterization and Localization of Focal Atrial Tachycardia in Patients With Adult Congenital Heart Disease.
JACC Clin Electrophysiol
January 2025
Cardiac Electrophysiology Section, Division of Cardiology, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA; Duke Clinical Research Institute, Durham, North Carolina, USA. Electronic address:
Background: In patients with structurally normal hearts, algorithms using surface electrocardiographic P-wave morphology are helpful to predict focal atrial tachycardia (FAT) location. However, these algorithms have not been formally assessed in patients with adult congenital heart disease (ACHD).
Objectives: This study sought to assess the efficacy of FAT-location prediction algorithms in an adult population of patients with ACHD.
Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFSequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
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