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Maternal autoimmune systemic connective tissue disease and vasculitis and electrocardiographic findings in the offspring.
J Autoimmun
January 2025
Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte Hospital, Copenhagen, Denmark.
Introduction: Maternal autoimmune systemic connective tissue diseases (CTDs) and their related antibodies have been associated with adverse fetal outcomes, including complete heart block. In this study, we assessed the association between maternal CTD or vasculitis and neonatal electrocardiographic (ECG) parameters.
Methods: Our study population was drawn from the Copenhagen Baby Heart Study (CBHS), a prospective, population-based cohort study open to all neonates born in the Copenhagen area.
Atypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
Eur J Case Rep Intern Med
December 2024
Internal Medicine, Holy Family Hospital, Rawalpindi, Pakistan.
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
View Article and Find Full Text PDFCongenital hyperinsulinism in the Ukraine: a 10-year national study.
Front Endocrinol (Lausanne)
January 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, United Kingdom.
Introduction: Congenital Hyperinsulinism (CHI) has not been previously studied in Ukraine. We therefore aimed to elucidate the genetics, clinical phenotype, histological subtype, treatment and long-term outcomes of Ukrainian patients with CHI.
Methods: Forty-one patients with CHI were recruited to the Ukrainian national registry between the years 2014-2023.
Sleep complaints in individuals with SYNGAP1-associated syndrome.
Sleep Med
December 2024
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address:
Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.
View Article and Find Full Text PDFTiming of Complete Multivessel Revascularization in Acute Coronary Syndrome: 2-Year Results of the BIOVASC Study.
JACC Cardiovasc Interv
December 2024
Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, the Netherlands.
Article Synopsis
- In patients with acute coronary syndromes and multivessel disease, immediate and staged complete revascularization showed similar outcomes at 2 years regarding combined health events like mortality and heart attacks.
- A total of 1,525 patients participated, and follow-up data were collected from 97.6% of them.
- The only notable difference was a lower rate of myocardial infarction in the immediate complete revascularization group compared to the staged group, suggesting it might be a slightly better option in preventing heart attacks.
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