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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 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.
Interventricular septal dissection secondary to acute inferior myocardial infarction: case series and literature review.
J Cardiothorac Surg
January 2025
Echocardiography and Vascular Ultrasound Center, The First Affiliated Hospital, Zhejiang University School of Medicine, 79 Qingchun Road, Hangzhou, 310003, China.
Background: Interventricular septal dissection is a critical disease characterized by the separation of the intraventricular septum into two layers, forming an intermediate layer with a cystic cavity that communicates with the root of the aorta or ventricle. It has low morbidity and high mortality rates.
Case Presentation: Case 1: A 58-year-old male with a history of hypertension and smoking presented to a local hospital due to chest tightness and pain for 4 days.
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