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http://dx.doi.org/10.1016/j.eucr.2018.10.009 | DOI Listing |
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 PDFAdv Ther (Weinh)
January 2025
Department of Urology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Division of Pediatric Urology, Department of Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Center for Regenerative Nanomedicine, Northwestern University, Chicago, IL 60611, USA; Department of Biomedical Engineering, McCormick School of Engineering, Northwestern University, Evanston, IL 60208, USA.
Impaired bladder compliance secondary to congenital or acquired bladder dysfunction can lead to irreversible kidney damage. This is managed with surgical augmentation utilizing intestinal tissue, which can cause stone formation, infections, and malignant transformation. Co-seeded bone marrow mesenchymal stem cell (MSC)/CD34+ hematopoietic stem cell (HSPC) scaffolds (PRS) have been successful in regenerating bladder tissue.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFJ Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFJ Pediatr Urol
December 2024
Department of Urology, Gaziosmanpasa Training and Research Hospital, Istanbul, Türkiye.
Introduction: Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!