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Although the long-term outcomes of the surgical grafts are well defined and reported, the data regarding the mid-and long-term results of the balloon-expandable percutaneous valves in the native right ventricular outflow tract (RVOT) is limited. We retrospectively evaluated 42 patients who underwent PPVI (Sapien® XT valve) to native RVOT due to severe pulmonary regurgitation (PR) and/or moderate to severe pulmonary stenosis (PS) between August 2015 and November 2020. The median patient age at the time of PPVI was 13.
View Article and Find Full Text PDFSV-JIM, detailed pairwise structural variant calling using long-reads and genome assemblies.
Methods
January 2025
Department of Computer Science, University of Saskatchewan, Saskatoon, SK, Canada. Electronic address:
This paper proposes a detailed process for SV calling that permits a data-driven assessment of multiple SV callers that uses both genome assemblies and long-reads. The process is implemented as a software pipeline named Structural Variant - Jaccard Index Measure, or SVJIM, using the Snakemake [20] workflow management system. Like most state-of-the-art SV callers, SV-JIM detects the presence of variations between pairs of genomes, but it streamlines the numerous SV calling stages into a single process for user convenience and evaluates the multiple SV sets produced using the Jaccard index measure to identify those with the highest consistency among the included SV callers.
View Article and Find Full Text PDFExpanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.
J Pediatr Endocrinol Metab
January 2025
Department of Medical Genetics, Demiroglu Bilim University Faculty of Medicine, Istanbul, Türkiye.
Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.
Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.
Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause.
Mol Genet Metab Rep
March 2025
Demiroglu Bilim University Faculty of Medicine, Department of Medical Genetics, Istanbul, Türkiye.
Very-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges. We report the case of a 2-year-old girl presenting with growth retardation and diarrhea, with laboratory investigations revealing elevated VLCFA levels suggestive of a peroxisomal disorder. Despite initial suspicion, genetic panels for peroxisomal and dyslipidemia-associated genes were negative.
View Article and Find Full Text PDFA stuck leaflet after balloon post-dilatation in transcatheter aortic valve implantation with a SAPIEN-3 ultra RESILIA valve: a case report.
Eur Heart J Case Rep
January 2025
Department of Cardiology, Komaki City Hospital, 1-20 Joubushi, Komaki, Aichi 485-8520, Japan.
Background: Transcatheter aortic valve implantation (TAVI) is a safe and effective therapy for patients with severe aortic stenosis. A Stuck leaflet and severe intraprosthetic regurgitation after valve implantation occur rarely but can lead to sudden haemodynamic deterioration. We encountered a case of a stuck leaflet following post-dilatation with the Edwards Sapien 3 Ultra RESILIA valve.
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