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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 PDFAmeliorative impact of sacubitril/valsartan on paraquat-induced acute lung injury: role of Nrf2 and TLR4/NF-κB signaling pathway.
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Department of Pharmacology and Toxicology, Faculty of Pharmacy, Mansoura University, Mansoura, 35516, Egypt.
Herbicides such as paraquat (PQ) are frequently utilized particularly in developing nations. The present research concentrated on the pulmonary lesions triggered by PQ and the beneficial effect of the angiotensin receptor neprilysin inhibitor (ARNI), sacubitril/valsartan, against such pulmonary damage. Five groups of rats were established: control, ARNI, PQ (10 mg/kg), ARNI 68 + PQ, and ARNI 34 + PQ.
View Article and Find Full Text PDFCiliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.
Semin Ophthalmol
January 2025
Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.
Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.
Arrhythmogenic 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 PDFinfects the urogenital tract of men and women and causes the sexually transmitted infection trichomoniasis. Since the publication of its draft genome in 2007, the genome has drawn attention for several reasons, including its unusually large size, massive expansion of gene families, and high repeat content. The fragmented nature of the draft assembly made it challenging to obtain accurate metrics of features, such as spliceosomal introns.
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