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Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFTreatment of Extreme Central Venous Occlusive Disease With Massive Esophageal Bleeding.
Ann Thorac Surg Short Rep
June 2024
Department of Thoracic and Cardiovascular Surgery, Loyola University Medical Center, Maywood, Illinois.
Central venous occlusions are common in the population of dialysis patients and develop as a result of arteriovenous access. Whereas these patients most commonly present with edema and varicosities, a rare presentation is esophageal varices. Here we present the case of a young man with life-threatening esophageal hemorrhage as a result of central venous occlusions, successfully treated with an azygos vein to right atrial bypass.
View Article and Find Full Text PDFPercutaneous closure of a traumatic ventricular septal defect: a case report and literature review.
Int J Emerg Med
January 2025
Departamento de Cardiología, Fundación Valle del Lili, Carrera 98 No. 18 - 49, Cali, 760032, Colombia.
Background: Penetrating cardiac trauma is an entity with high pre and intrahospital mortality due to complications such as cardiac tamponade and massive hemothorax. A ventricular septal defect (VSD) occurs in 1-5% of cases and can present early or late. The management strategy for VSD resulting from penetrating cardiac trauma is uncertain.
View Article and Find Full Text PDFSystematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data.
Nat Commun
January 2025
Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan.
Genomic variants causing abnormal splicing play important roles in genetic disorders and cancer development. Among them, variants that cause the formation of novel splice-sites (splice-site creating variants, SSCVs) are particularly difficult to identify and often overlooked in genomic studies. Additionally, these SSCVs are frequently considered promising candidates for treatment with splice-switching antisense oligonucleotides (ASOs).
View Article and Find Full Text PDFStudy protocol for a single-centre non-inferior double-blinded randomised controlled trial in China comparing the efficacy and safety of high-frequency irreversible electroporation with transurethral resection of the prostate in treating lower urinary tract symptoms and benign prostatic obstruction (the GIANT trial).
BMJ Open
January 2025
Department of Urology, Tongji University School of Medicine, Shanghai, China
Introduction: Transurethral resection of the prostate (TURP) is the gold standard surgical treatment to lower urinary tract symptoms and benign prostatic obstruction (LUTS/BPO). Although it has been proven to have substantial efficacy in improving functional outcomes, it has shown a high incidence of complications, including transurethral resection syndrome, massive bleeding, urinary incontinence and sexual dysfunction. High-frequency irreversible electroporation (H-FIRE) is a novel non-thermal ablation technique that delivers pulsed high-voltage but low-energy electric current to the cell membrane, thereby leading to cell death.
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