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Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFTestosterone-induced Seminal Vesicle-like Differentiation in Cervical Mesonephric Duct Remnants in a Female to Male Transgender Patient.
Int J Gynecol Pathol
January 2025
Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.
Pure ductal-type mesonephric remnants in the uterine cervix are rare. We report an unusual case in a 31-yr-old of cervical mesonephric remnants of predominantly ductal type exhibiting seminal vesicle-like differentiation in a female-to-male transgender patient receiving long-term testosterone therapy. To the best of our knowledge, this phenomenon has not been previously reported.
View Article and Find Full Text PDFArrhythmogenic Right Ventricular Cardiomyopathy in Monozygotic Twins-A Case Report.
J Clin Ultrasound
January 2025
Department of Gastroenterology, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the classic phenotype of arrhythmogenic cardiomyopathy. ARVC in twins have been reported rarely. Herein, we report an unusual case of young monozygotic twins with early disease onset presenting different course of disease progression and clinical manifestations.
View Article and Find Full Text PDFUnusual cholesterol crystal formation in a rare clinical case report of splenic echinococcal cyst in a patient from Sardinia, Italy.
Front Parasitol
January 2025
World Organisation for Animal Health (WOAH) and National Reference Laboratory for Echinococcosis, Istituto Zooprofilattico della Sardegna, Sassari, Italy.
Cystic echinococcosis (CE) is a zoonotic disease caused by sensu lato, the metacestode of a tapeworm parasite of high medical importance. Infection of the parasite leads to the development of echinococcal cysts, and the spleen is a rarely infected organ. A 46-year-old woman who was born and who resides in Sardinia, Italy, was referred to the Echinococcosis outpatient clinic at the University Hospital of Sassari (Sardinia, Italy) for a pain in the left flank.
View Article and Find Full Text PDFAbscess and aneurysm: A case of tuberculous abscess causing an aortic pseudo-aneurysm.
Radiol Case Rep
March 2025
Maimonides Medical Center, Brooklyn, NY, USA.
Thoracic aortic pseudoaneurysms are a rare but serious complication of infectious processes, often resulting from mycotic (infectious) aneurysms, occurring when the vessel wall is compromised by an infection, leading to the formation of a pseudoaneurysm [1]. Mycotic aneurysms typically result from bacteremia or fungemia, with common sources being infective endocarditis or other systemic infections. Tuberculosis, though a common infectious disease worldwide, is an unusual cause of aortic pseudoaneurysm formation.
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