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Zinner syndrome unveiled: Ectopic ureter and seminal vesicle cyst leading to urinary dysfunction: A case report.
Radiol Case Rep
March 2025
Department of Radiology, Makassed hospital, Jerusalem, Palestine.
Zinner syndrome (ZS) is a rare congenital urological condition characterized by a triad of ipsilateral seminal vesicle cysts, unilateral renal agenesis, and ejaculatory duct obstruction, first described in 1914. This case report details the presentation and management of a 27-year-old male diagnosed with ZS following a 2-month history of urinary frequency, hesitancy, dysuria, and painful ejaculation. Physical examination revealed a left lower abdominal mass, and imaging confirmed the classic findings of ZS, including unilateral renal agenesis, an enlarged seminal vesicle cyst, and an ectopic ureter.
View Article and Find Full Text PDFPosterior Urethral Valves and Fertility: Insight on Paternity Rates and Seminal Parameters.
Diseases
January 2025
Department of Urology, Magna Graecia University of Catanzaro, Viale Europa, 88100 Catanzaro, Italy.
Background: Posterior urethral valves (PUVs) represent the most common cause of male congenital lower urinary tract obstruction, often responsible for renal dysplasia and chronic renal failure. Despite recent improvements in patients' outcomes thanks to prenatal ultrasound early diagnosis, PUVs can still impact sexual function and fertility. This study aims to review the available evidence on fertility in PUV patients, examining paternity rates and semen parameters.
View Article and Find Full Text PDFUnravelling the case of suspected ectopic ureter in a young adult patient.
Radiol Case Rep
March 2025
Department of Radiology, Hasan Sadikin Academic Medical Center-Faculty of Medicine, University of Padjadjaran, Jatinangor, Indonesia.
An ectopic ureter (EU) opens outside the bladder's trigone, a rare condition with an incidence of 0.05%-0.025%.
View Article and Find Full Text PDFPhenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFCongenital cytomegalovirus pneumonia presents as pleural effusion in infancy.
BMJ Case Rep
January 2025
Pediatrics, AIIMS Jodhpur, Jodhpur, Rajasthan, India.
Cytomegalovirus (CMV) infection is one of the most common congenital infections. We present a case of an infant who presented with respiratory distress since birth with a normal antenatal history. The infant had bilateral pleural effusion.
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