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"Unilateral renal agenesis"

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https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#1
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28278526/-acute-kidney-failure-due-to-urachal-cyst
#2
I Klaassen, M Wolf, M J Kemper, S Riechardt, M Boettcher, J Herrmann, D Singer
A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Postnatal adaptation was uneventful, but the newborn presented external stigmas of trisomy 21 and progressive renal impairment with anuria. Nevertheless, the postnatal ultrasound showed two enlarged kidneys in loco typico with impaired perfusion but without signs of malformations...
March 9, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28263220/ectopic-pelvic-fibroid-in-a-woman-with-uterine-agenesis-and-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#3
Thelina Amaratunga, Iain Kirkpatrick, Yi Yan, Fern Karlicki
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the müllerian ducts. Women with this syndrome have the normal 46 XX karyotype, normal female secondary sex characteristics, and primary amenorrhea. Only a few cases have been described in the literature where a fibroid develops from a rudimentary, nonfunctioning uterus in patients with MRKH syndrome. In even rarer instances, a fibroid can develop in patients with a congenitally absent uterus...
March 3, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28258603/incidence-of-an-aberrant-right-subclavian-artery-on-second-trimester-sonography-in-an-unselected-population
#4
Selen Gursoy Erzincan, Burcin Karamustafaoglu Balci, Cengiz Tokgoz, Ibrahim Halil Kalelioglu
OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1...
March 4, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28208931/pseudo-exstrophy-of-bladder-with-unilateral-renal-agenesis-a-rare-combination-of-two-anomalies
#5
Abdolhamid Amouei, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare combination of two anomalies. She was born at 37 weeks gestational age with caesarean section delivery. The X-ray of hip revealed pubic diastasis. Ultrasonography clearly showed absence of the left kidney with a normal right kidney. The patient was treated successfully with proper surgical management...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28108134/-early-kidney-damage-in-patients-born-with-unilateral-renal-agenesis
#6
Ana Castellano-Martinez, Moises Rodriguez-Gonzalez, Virginia Roldan-Cano
No abstract text is available yet for this article.
January 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#7
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27734512/prenatal-compensatory-renal-growth-in-unilateral-renal-agenesis
#8
Sharon Perlman, Dani Lotan, Benjamin Dekel, Zvi Kivilevitch, Yinon Hazan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis (URA). METHODS: A retrospective study of fetuses with isolated URA diagnosed prenatally, and confirmed postnatal was performed. RESULTS: Seventy-four fetuses with isolated solitary kidney were included in the study. A total of 134 measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each)...
November 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27693935/distribution-of-female-genital-tract-anomalies-in-two-classifications
#9
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
November 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27564299/retrocaval-ureter-and-contra-lateral-renal-agenesis-a-case-report-and-review-of-literature
#10
Felix Cardoza, C K Shambhulinga, A T Rajeevan
Associated congenital anomalies are seen in 21% of retrocaval ureter patients; among them, associated contralateral renal agenesis is a very rare entity. We report one such case of right circumcaval ureter with left renal agenesis, diagnosed after febrile UTI. Surgical correction with uretero-ureterostomy was successful. In literature very few such cases are reported and only one case with renal failure was reported. Unilateral renal agenesis cases complicated by associated such anomalies need definitive management and lifelong clinical monitoring to diagnose and prevent chronic kidney disease...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27507534/diagnostic-imaging-and-cataloguing-of-female-genital-malformations
#11
REVIEW
Pedro Acién, Maribel Acién
UNLABELLED: To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment...
October 2016: Insights Into Imaging
https://www.readbyqxmd.com/read/27506089/complex-malformations-of-the-urogenital-tract-in-a-female-dog-gartner-duct-cyst-ipsilateral-renal-agenesis-and-ipsilateral-hydrometra
#12
Atsushi Fujita, Masaya Tsuboi, Kazuyuki Uchida, Ryohei Nishimura
A 10-month-old female toy poodle was referred to the University of Tokyo Veterinary Medical Center with a urogenital anomaly found during sterilization. An exploratory laparotomy revealed a cyst adhering to the cervix and a unilateral renal agenesis. Histopathology and immunohistochemical analysis of the cyst was consistent with remnants of the Wolffian duct or a Gartner duct cyst. This is a rare case of a canine Gartner duct cyst with renal agenesis and uterine anomaly. We discuss the similarity of this case to that of humans and introduce a classification in the literature for these complex urogenital malformations for further clinical research into the precise diagnosis and appropriate surgical planning...
May 2016: Japanese Journal of Veterinary Research
https://www.readbyqxmd.com/read/27488005/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene-abnormalities-in-indian-males-with-congenital-bilateral-absence-of-vas-deferens-renal-anomalies
#13
Rahul Gajbhiye, Kaushiki Kadam, Aalok Khole, Avinash Gaikwad, Seema Kadam, Rupin Shah, Rangaswamy Kumaraswamy, Vrinda Khole
BACKGROUND & OBJECTIVES: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. METHODS: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA...
May 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27476656/truncating-mutations-in-the-adhesion-g-protein-coupled-receptor-g2-gene-adgrg2-cause-an-x-linked-congenital-bilateral-absence-of-vas-deferens
#14
Olivier Patat, Adrien Pagin, Aurore Siegfried, Valérie Mitchell, Nicolas Chassaing, Stanislas Faguer, Laetitia Monteil, Véronique Gaston, Louis Bujan, Monique Courtade-Saïdi, François Marcelli, Guy Lalau, Jean-Marc Rigot, Roger Mieusset, Eric Bieth
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azoospermic men with CBAVD was retrospectively reassessed with more stringent selection criteria based on consistent clinical data, complete description of semen and reproductive excurrent ducts, extensive CFTR testing, and kidney ultrasound examination...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27421781/unilateral-renal-agenesis-necessity-of-postnatal-evaluation-in-a-contemporary-series
#15
Osama M Sarhan, Khalid Albedaiwi, Badr Al Harbi, Abdulhakim Al Otay, Mustafa Al Ghanbar, Ziad Nakshabandi
OBJECTIVE: To assess the need for postnatal evaluation and the long-term consequences in patients with prenatal diagnosis of unilateral renal agenesis (URA). MATERIALS AND METHODS: A retrospective review of the records of all patients with prenatal diagnosis of URA between 2004 and 2013 was done. We included all patients who underwent postnatal evaluation with renal bladder ultrasound (RBUS), dimercaptosuccinic acid scan, and a voiding cystourethrogram. Long-term follow-up included physical examination and assessment of contralateral renal growth...
December 2016: Urology
https://www.readbyqxmd.com/read/27245527/spondyloepimetaphyseal-dysplasia-with-joint-laxity-beighton-type-a-unique-south-african-disorder
#16
E M Honey
Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in the B3GALT6 gene have been incriminated. In this article, case details of three additional affected children in two families are documented, and four additional families are mentioned...
June 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27206329/ace-serum-level-and-i-d-gene-polymorphism-in-children-with-obstructive-uropathies-and-other-congenital-anomalies-of-the-kidney-and-urinary-tract
#17
Emilya S Kostadinova, Lyuba D Miteva, Spaska A Stanilova
AIM: The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum. METHODS: Group of 134 Bulgarian children with CAKUT divided into four subgroups according to the leading malformation and 109 controls were genotyped by classical polymerase chain reaction...
May 20, 2016: Nephrology
https://www.readbyqxmd.com/read/27170916/renal-agenesis-with-full-length-ipsilateral-refluxing-ureter
#18
Dilip Kumar Pal, Vipin Chandra, Manju Banerjee
Unilateral renal agenesis with vesicoureteral reflux in the ipsilateral full length ureter is a rare phenomenon. Herein we report a case of 10-year old boy who presented with recurrent urinary tract infections. No renal tissue was identified on left side in various imaging studies. Micturating cystourethrogram (MCUG) showed left sided refluxing and blind ending ureter. Left ureterectomy was done because of recurrent UTI in the refluxing system.
May 2016: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/27036947/familial-tetrasomy-4q35-2-associated-with-congenital-diaphragmatic-hernia-and-unilateral-renal-agenesis-a-case-report
#19
Thomas Bogs, Florian Kipfmüller, Nicolai Kohlschmidt, Ulrich Gembruch, Andreas Müller, Heiko Reutter
BACKGROUND: Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION: We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father...
March 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/26997947/a-new-atypical-case-of-cobalamin-f-disorder-diagnosed-by-whole-exome-sequencing
#20
Panayiotis Constantinou, Mariella D'Alessandro, Paul Lochhead, Shalaka Samant, W Michael Bisset, Catherine Hauptfleisch, John Dean
Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum...
February 2016: Molecular Syndromology
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