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Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
Blood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFAn atrial septal defect (ASD) is a common congenital heart anomaly that results in irregular blood flow between the systemic and pulmonary circulations due to an opening in the atrial septum. Ostium secondum ASD accounts for a large proportion of these defects and often goes unnoticed during childhood and adolescence. Pulmonary hypertension (PH), affecting a significant number of patients with ostium secondum ASD, is associated with functional limitations, heart failure, and tachyarrhythmias.
View Article and Find Full Text PDFSystemic Sirolimus Therapy Is Associated With Reduced Intervention Frequency in Pulmonary Vein Stenosis.
JACC Adv
December 2024
Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.
Background: Early clinical outcomes data for adjunctive systemic sirolimus therapy (SST) for moderate to severe pediatric pulmonary vein stenosis (PVS) are promising but limited.
Objectives: The authors aimed to characterize a cohort of patients treated with SST to determine if SST was associated with a reduction in frequency of PVS interventions.
Methods: Medical records of 45 patients with PVS treated with SST for ≥1 month from 2015 to 2022 were retrospectively reviewed.
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
View Article and Find Full Text PDFCatheter ablation of atrial flutter in an adult with a univentricular heart, common atrium, and single atrioventricular valve: a case report-'complex things don't always require a complex solution'.
Eur Heart J Case Rep
January 2025
Cardiac Electrophysiology, National Medical Center 'November 20th', ISSSTE, Av. Felix Cuevas #540, Col. Del Valle Del. Benito Juarez, C.P. 03100 Mexico City, Mexico.
Background: The 'univentricular' heart encompasses a variety of congenital cardiac defects characterized by a single functional ventricle and an underdeveloped ventricular chamber. Surgical intervention, typically in infancy or childhood, aims to regulate pulmonary blood flow volume. In adulthood, untreated patients may experience limitations in physical activity and elevated morbidity due to persistent cyanosis and arrhythmias, notably after the Fontan procedure.
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