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Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.
Biomedicines
January 2025
Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar.
/: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syndrome's full clinical spectrum and course remain incompletely understood.
View Article and Find Full Text PDF'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFUnderstanding and Managing Pediatric Urinary Tract Infections in Vesicoureteral Reflux: Insights Into Pathophysiology and Care.
Cureus
December 2024
General Practice, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
Vesicoureteral reflux (VUR) is a pediatric condition identified by the backward flow of urine from the bladder to one or both ureters and kidneys, predisposing patients to recurrent urinary tract infections (UTIs) and kidney scarring. Continuous antibiotic prophylaxis has long been a mainstay of management aimed at preventing recurrent UTIs and resulting renal damage. This review critically discusses the evidence supporting the utilization of antibiotic prophylaxis in VUR, with a focus on its efficacy, safety, long-term outcomes, and future directions in management.
View Article and Find Full Text PDFPrediction model for severe vesicoureteral reflux in children with urinary tract infection and/or hydronephrosis.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology and Rheumatology, Dokuz Eylül University Medical Faculty, Izmir, Turkey.
Background: As voiding cystourethrography is invasive and exposes to radiation and urinary tract infection (UTI), identifying only high-grade reflux is important. We aimed to identify clinical, laboratory and imaging variables associated with high-grade primary reflux in children presenting with UTIs and/or urinary tract dilatation and develop a prediction model for severe reflux.
Methods: Data of children who underwent voiding cystourethrography due to UTI and/or urinary tract dilatation were retrospectively analyzed for demographic, clinical and imaging findings.
Vesicoureteral reflux of a solitary kidney treated with endoscopic injection therapy comprising tandem injections administered with the assistance of a ureteral guidewire in a young girl.
Urol Case Rep
January 2025
Department of Pediatric Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
We present the case of a 12-year-old girl with vesicoureteral reflux (VUR) of a solitary kidney treated using a modified hydrodistention implantation technique. A needle was set parallel to the ureteral guidewire inserted through the ureteral orifice before performing injections to correct VUR. Multi-site tandem injections were administered along the wire, which confirmed the direction and length of the ureteral tunnel.
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