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BMC Pediatr
January 2025
Medical Biochemistry Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.
Background: Chronic inflammation and its control are crucial to the responses of glomerular and renal tubular cells. This contributes to the pathogenic mechanisms and advancement of the disease in Alport syndrome. The study aimed to elucidate the role of cyclooxygenase-2, Interleukin 4, Plasminogen activating inhibitor 1, and Prostaglandin E2 in the development and course of Alport syndrome.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
February 2025
Department of Emergency, Xi'an Children's Hospital, Xi'an 710003, China.
To explore clinical and genetic features of persistent asymptomatic microscopic hematuria in children. A retrospective case analysis of 135 individuals admitted to Xi 'an Children's Hospital with persistent asymptomatic microscopic haematuria between January 2016 to December 2023 was conducted. The demographic characteristics, kidney pathology and gene results of 135 individuals were analyzed.
View Article and Find Full Text PDFPathogens
December 2024
Department of Genetics and Hereditary Diseases, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 400372 Cluj-Napoca, Romania.
cuniculi infection in rabbits represents a true challenge in both diagnosis and treatment of the disease. This study aims to describe and analyze all methods of identifying the presence of the microsporidian in a rabbit through antemortem and postmortem methods. The patient manifested clinical signs of vestibular disease and mild renal symptoms with no significant improvement under treatment, which finally led to euthanasia.
View Article and Find Full Text PDFDigit J Ophthalmol
December 2024
NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.
We present 3 cases of bilateral anterior lens capsule rupture, all leading to a subsequent diagnosis of Alport syndrome. Clinicians should be alert to the ocular and systemic features of Alport syndrome, especially when presented with a spontaneous rupture of the anterior lens capsule in young males. Ophthalmologists are often the first contact for patients with Alport syndrome, and a sound knowledge of the associated features will enable timely referral to other members of a multidisciplinary team required to treat such patients.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Mitochondrial dysfunction is a critical factor in the pathogenesis of Alport syndrome (AS), contributing to podocyte injury and disease progression. Ezetimibe, a lipid-lowering drug, is known to inhibit cholesterol and fatty acid uptake and to reduce triglyceride content in the kidney cortex of mice with AS. However, its effects on lipid droplet (LD) utilization by mitochondria have not been explored.
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