Congenital heart block (CHB) is the main complication of neonatal lupus (NL) and is strongly associated with the presence of anti-SSA/Ro and anti-SSB/La antibodies. The recurrence of CHB in subsequent pregnancies in mothers with these antibodies is uncommon, occurring in approximately 15% of cases. We describe here a case of recurrent CHB in a previously asymptomatic mother with Sjögren syndrome and discuss the current strategies for the prevention and treatment of CHB in NL.
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http://dx.doi.org/10.1007/s10067-006-0282-6 | DOI Listing |
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 PDFJACC 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.
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 PDFAm 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.
View Article and Find Full Text PDFPerfusion
January 2025
Congenital Heart Center, Division of Cardiovascular Surgery, Departments of Surgery and Pediatrics, University of Florida, Gainesville, FL, USA.
Post-cardiopulmonary bypass (CPB) blood processing is an important component of blood management during cardiac surgery. The purpose of this study is to evaluate several methods of processing post-CPB residual blood. Using a multi-institutional national database (SpecialtyCare Operative Procedural rEgistry [SCOPE]), 77,591 cardiac surgical operations performed in adults (>18 years) between January 2017 and September 2022 were reviewed.
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