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A Rare Case of Sigmoid-Urachal Fistula in an Adult Male Resected Laparoscopically.
Asian J Endosc Surg
January 2025
Department of Surgery, Nishichita General Hospital, Tokai, Aichi, Japan.
Fistulization involving both the sigmoid colon and urachus is exceedingly rare. While previous cases have often necessitated laparotomy due to the involvement of multiple organs, only one instance of successful laparoscopic surgery has been reported. Here, we present the second documented case of laparoscopic resection of a sigmoid-urachal fistula.
View Article and Find Full Text PDFEarly Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAdjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.
Stat Med
February 2025
Department of Mathematical Sciences, University of Texas at Dallas, Richardson, Texas, USA.
Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is, penetrance for a gene.
View Article and Find Full Text PDFAlloanti-Hy in antenatal patients: A multi-case review.
Transfus Med
January 2025
RCI, NHSBT, Filton, UK.
Introduction: Introduction The Hy antigen is one of ten red cell antigens belonging to the Dombrock blood group system, with an antigen frequency of almost 100% in the majority of populations. Alloantibodies to high prevalence antigens cause difficulties with antibody identification and exclusion in serological investigations.
Case Presentation: This review describes the management of four antenatal cases where the presence of alloanti-Hy had been identified.
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