Vesicoureteral reflux (VUR) is defined as the urine backflow from the urinary bladder to the pyelo-caliceal system. In contrast, intrarenal reflux (IRR) is the backflow of urine from the renal calyces into the tubulointerstitial space. VURs, particularly those associated with IRR can result in reflux nephropathy when accompanied by urinary tract infection (UTI).
View Article and Find Full Text PDFPhronesis is often described as a 'practical wisdom' adapted to the matters of everyday human life. Phronesis enables one to judge what is at stake in a situation and what means are required to bring about a good outcome. In medicine, phronesis tends to be called upon to deal with ethical issues and to offer a critique of clinical practice as a straightforward instrumental application of scientific knowledge.
View Article and Find Full Text PDFPurpose: Previous work identified rare variants in DSTYK associated with human congenital anomalies of the kidney and urinary tract (CAKUT). Here, we present a series of mouse and human studies to clarify the association, penetrance, and expressivity of DSTYK variants.
Methods: We phenotypically characterized Dstyk knockout mice of 3 separate inbred backgrounds and re-analyzed the original family segregating the DSTYK c.
Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and symptoms resulting in great phenotypic variability and what is more important, often difficulties with establishing the timely diagnosis.
Case Report: We report a case of a one family with three members with BBS caused by a very rare mutation, a compound heterozygosity in gene.
Caring for patients with substance use disorders (SUD) is held in low regard and many clinicians resist treating them. To address this situation, numerous research projects assessed training program gaps and professional attitudes. In contrast, this study explored the actual clinical difficulties that a variety of hospital-based professionals encounter when treating patients with SUD.
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