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Effect of Hepatitis E Virus on the Male Reproductive System: A Review of Current Evidence.
Viruses
January 2025
Department of Biomedical & Nutritional Sciences, Zuckerberg College of Health Sciences, University of Massachusetts Lowell, Lowell, MA 01854, USA.
Hepatitis E Virus (HEV) is a globally widespread pathogen that causes acute hepatitis infection. Beyond hepatic pathogenesis, HEV has been proven to cause several extrahepatic manifestations, such as neurological, renal, and hematological manifestations. It was also associated with mortality in pregnant females.
View Article and Find Full Text PDFNationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFAggressive angiomyxoma of the vagina: A case report and literature review.
Medicine (Baltimore)
January 2025
Department of Internal Medicine, Division of Hematology and Oncology, Jeonbuk National University Hospital, Jeonbuk National University Medical School, Jeonju, Republic of Korea.
Rationale: Aggressive angiomyxoma (AAM) is an exceptionally rare mesenchymal tumor that predominantly manifests in the female genital organs during the reproductive age. Its rarity alone makes it a fascinating subject for study. The diagnosis of AAM necessitates differentiation from other benign or mesenchymal tumors and can be confirmed through immunohistochemistry (IHC) staining.
View Article and Find Full Text PDFCFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.
Cell Mol Life Sci
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China.
Defects in motile cilia and flagella lead to motile ciliopathies, including primary ciliary dyskinesia (PCD), which manifests as multi-organ dysfunction such as hydrocephalus, infertility, and respiratory issues. CFAP65 variants are a common cause of male infertility, but its localization and function have remained unclear. In this study, we systematically evaluated CFAP65's role using Cfap65 knockout mice and human patients with CFAP65 variants.
View Article and Find Full Text PDFUrethral Complications Due to Erythema Multiforme Major: A Case Report.
Cureus
December 2024
Department of Anatomy, A.T. Still University of Health Sciences - Kirksville College of Osteopathic Medicine, Kirksville, USA.
Erythema multiforme major (EMM) is an acute, immune-mediated mucocutaneous disease that rarely affects the genital mucosal surfaces. This study describes a 39-year-old male with this rare disease and unusual presentation. The patient presented to an emergency department with oral lesions, drainage from both eyes, injected sclera, and characteristic targetoid lesions on the face, upper extremities, torso, and plantar surfaces of the feet.
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