Results 21 to 30 of about 22,740 (218)

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +3 more sources

A Singleton Infant with Bilateral Renal Agenesis and Normal Pulmonary Function

Case Reports in Pediatrics, 2017
Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has ...
Lovya George, Winston Manimtim, Jotishna Sharma   +2 more
doaj   +1 more source

Herlyn-Werner-Wunderlich syndrome: A rare cause of abdominal pain and dyspareunia

Radiology Case Reports, 2019
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disease characterized by Mullerian duct anomalies. The characteristic triad of this syndrome includes didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis (hence, also known ...
Ninad Salastekar, MBBS, MPH, Marlon Coelho, MD, Anand Majmudar, MD, Saurabh Gupta, MD   +3 more
doaj   +1 more source

Cardiorespiratory fitness and sports activities in children and adolescents with solitary functioning kidney [PDF]

, 2016
Background: An increasing number of children with chronic disease require a complete medical examination to be able to practice physical activity. Particularly children with solitary functioning kidney (SFK) need an accurate functional evaluation to ...
DE CASTRO, Giovanna, DUSE, MARZIA, Falsaperla, R, FAVORITI, ALESSANDRA, LAMBIASE, CATERINA, LUBRANO, Riccardo, Paoli, S, Ricupito, F, TANCREDI, Giancarlo, Vitaliti, G, ZICARI, Anna Maria   +10 more
core   +2 more sources

Gubernaculum Sparing Laparoscopic Orchiopexy in Cryptorchidism with Ipsilateral Congenital Absence of the Vas Deferens: Unique Outcome

Case Reports in Urology, 2019
Congenital absence of the vas deferens (CAVD) is an uncommon anomaly that occurs in up to 1% of the male population. It can be associated with various other anomalies, including cryptorchidism and renal anomalies, such as renal agenesis.
Ebtehal Althobaiti, Hattan Badr, Maryam Aloqalaa, Raghdah Alsharif, Naif Alqarni   +4 more
doaj   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Embryology of the Absent Vas Supported by 2 Cases of Congenital Unilateral Absence of Vas With Varied Associations

Urology Case Reports, 2014
Congenital absence of the vas occurs in up to 1% of men. Congenital unilateral absence of the vas deferens can be related to cystic fibrosis transmembrane conductance regulator mutations or in 79% of cases, renal agenesis.
Gregory Shepherd, Ashok Rajimwale
doaj   +1 more source

Congenital Seminal Vesicle Cyst and Ipsilateral Renal Agenesis (Zinner Syndrome): A Rare Association and Its Evolution from Early Childhood to Adolescence

European Journal of Pediatric Surgery Reports, 2015
Zinner syndrome, the association of congenital seminal vesicle cyst and ipsilateral renal agenesis, is more often reported in adults or older adolescents. We present a case of a boy, followed up in our hospital since birth for right renal agenesis who at
Aikaterini Kanavaki, Isabelle Vidal, Laura Merlini, Sylviane Hanquinet   +3 more
doaj   +1 more source

Zinner syndrome – a rare radiological diagnosis in a young male presenting with recurrent dysuria

Journal of Society of Surgeons of Nepal, 2021
Zinner syndrome is a rare congenital abnormality of the mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction.
Dinesh Chataut, Surendra Rayamajhi, Sundar Suwal, Ajit Thapa   +3 more
doaj   +3 more sources

Seminal Vesicle Infection of Zinner Syndrome Misdiagnosed for Neoplasm [PDF]

Urogenital Tract Infection, 2020
Zinner syndrome is a rare Müllerian duct congenital anomaly representing unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. A 16-year-patient presented with dysuria, nocturia, and enduring diffuse perineal pain
Young Joo Kim
doaj   +1 more source