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Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
Stem Cell Res
January 2025
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Klinik für Neurologie und Abteilung für Experimentelle Neurologie, Charitéplatz 1, 10117 Berlin, Germany.
NHD/PLOSL is an orphan disease characterized by progressive presenile dementia associated with recurrent fractures due to polycystic bone lesions. In this study, we generated the human induced pluripotent stem cell (hiPSC) line BIHi292-A from a 30-year-old women diagnosed with NHD/PLOSL, carrying two compound heterozygous frameshift mutations [c.313del (p.
View Article and Find Full Text PDFA giant fibro epithelial polyp of the vulva: A case report.
Int J Surg Case Rep
January 2025
Dilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, Ethiopia.
Introduction And Importance: Fibroepithelial polyps are benign growths that can occur in various anatomical locations, including the vulva. They typically present as asymptomatic skin tags that progressively increase in size.
Case Presentation: We report the case of a 30-year-old woman, para 3, who presented with a giant fibroepithelial polyp originating from the right labium majora.
A previously healthy 30-year-old woman experienced worsening back pain, fatigue, weakness, loss of appetite, and facial puffiness. After 18 months of these symptoms, she was diagnosed with multiple myeloma, which was also damaging her kidneys. The treatment involved a combination of medications and blood transfusions, leading to improved kidney function.
View Article and Find Full Text PDFGenetic and Immunological Insights into Tick-Bite Hypersensitivity and Alpha-Gal Syndrome: A Case Study Approach.
Int J Mol Sci
January 2025
Agence Nationale de Sécurité Sanitaire de l'alimentation, de l'environnement et du Travail, l'Institut National de Recherche Pour l'agriculture, l'alimentation et l'environnement, Ecole Nationale Vétérinaire d'Alfort, UMR Biologie Moléculaire et Immunologie Parasitaires, Laboratoire de Santé Animale, F-94700 Maisons-Alfort, France.
Tick-bite hypersensitivity encompasses a range of clinical manifestations, from localized allergic reactions to systemic conditions like alpha-gal syndrome (AGS), an IgE-mediated allergy to galactose-α-1,3-galactose (α-Gal). This study investigated the clinical, molecular, immunological, and genetic features of two hypersensitivity cases. Two cases were analyzed: a 30-year-old woman with fixed drug reaction (FDR)-like hypersensitivity and a 10-year-old girl with AGS exhibiting borderline α-Gal-specific IgE.
View Article and Find Full Text PDFNecrotizing fasciitis of the breast in a breastfeeding mother: A case report.
Int J Surg Case Rep
January 2025
Department of Surgery, Faculty of Medical Sciences, University of Sri Jayewardenepura, Sri Lanka. Electronic address:
Introduction: Necrotizing fasciitis (NF) is a rapidly progressive life-threatening infection involving necrosis of subcutaneous tissues and fascia. Though it mainly affects the extremities, perineum and abdominal wall, it rarely affects the breast.
Presentation Of Case: A 30-year-old woman on postpartum day seven presented with one-day history of fever with chills and rigors and painful, swollen and tender left breast.
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