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https://www.readbyqxmd.com/read/27890687/revisiting-sports-precautions-in-children-with-solitary-kidneys-and-cakut-congenital-anomalies-of-the-kidney-and-urinary-tract
#1
REVIEW
Dimitri Papagiannopoulos, Edward Gong
This review article explores sports and recreational precautions in children with solitary kidneys. In 2001, the American Academy of Pediatrics published recommendations for activity in children with medical conditions. Those with solitary kidneys were graded a "qualified yes": no restriction in non-contact sports, and individual assessment for limited-contact, contact, and collision sports. Recent trauma data suggests that classification according to degree of contact is inaccurate. We propose an updated, data-driven classification of sports/recreation according to risk of high-grade renal trauma or loss of renal unit...
November 24, 2016: Urology
https://www.readbyqxmd.com/read/27858197/maternal-obesity-is-associated-with-congenital-anomalies-of-the-kidney-and-urinary-tract-in-offspring
#2
Ian Macumber, Stephen Schwartz, Nicolae Leca
BACKGROUND: Congenital abnormalities of the kidney and urinary tract (CAKUT) are diagnosed in up to 1 % of pregnancies and account for 20-30 % of the abnormalities identified in the prenatal period. In previous studies, maternal obesity has been associated with congenital malformations in offspring. Our aim was to evaluate the association between maternal obesity [body mass index (BMI) ≥ 30 kg/m(2)] and CAKUT in offspring. METHODS: We conducted a population-based, case-control study using linked birth-hospital discharge records from Washington State, 2003-2012...
November 17, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27801488/peritoneal-dialysis-experience-of-the-department-of-pediatrics-of-the-hospital-charles-nicolle-of-tunis
#3
Manel Jellouli, Meriem Ferjani, Amal Oueslati, Kamel Abidi, Ouns Naija, Yousra Hammi, Taieb Ben Abdallah, Tahar Gargah
Introduction Peritoneal dialysis (PD) is still the most common modality used in treatment for children with End Stage Renal Disease (ESRD). The objective of this study was to identify the epidemiological, clinical, and microbiological factors affecting the outcome of PD. Methods In this study, we retrospectively reviewed the records of 85 patients who were treated with DP for the last ten years (from January 2004 to December 2013) in the Department of Pediatrics in Charles Nicolle hospital, Tunis. Results The mean duration of PD was 18...
May 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/27761660/timing-of-renal-replacement-therapy-does-not-influence-survival-and-growth-in-children-with-congenital-nephrotic-syndrome-caused-by-mutations-in-nphs1-data-from-the-espn-era-edta-registry
#4
Tuula Hölttä, Marjolein Bonthuis, Karlijn J Van Stralen, Anna Bjerre, Rezan Topaloglu, Fatih Ozaltin, Christer Holmberg, Jerome Harambat, Kitty J Jager, Franz Schaefer, Jaap W Groothoff
BACKGROUND: Congenital nephrotic syndrome (CNS) of the Finnish type, NPHS1, is the most severe form of CNS. Outcomes of renal replacement therapy (RRT) in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry. As NPHS1 is most prevalent in Finland and the therapeutic approach differs from that in many other countries, we compared outcomes in Finnish and other European patients. METHODS: NPHS1 mutations were confirmed in 170 children with CNS who initiated RRT (dialysis or renal transplantation) between 1991 and 2012...
December 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27617142/developmental-genetics-and-congenital-anomalies-of-the-kidney-and-urinary-tract
#5
REVIEW
Natalie Uy, Kimberly Reidy
Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and the leading cause of end-stage renal disease in children. There is a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT. Advances in human and mouse genetics have contributed to increased understanding of the pathophysiology of CAKUT...
March 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27504374/spectrum-of-renal-and-urinary-tract-diseases-in-kashmiri-children
#6
Mohd Ashraf, Virender Kumar, Rifat Ara Bano, Khursheed Ahmed Wani, Javed Ahmed, Kaisar Ahmed
INTRODUCTION: Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. AIM: The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27467564/severe-congenital-anomalies-of-the-kidney-and-urinary-tract-epidemiology-can-inform-ethical-decision-making
#7
P Danziger, D R Berman, K Luckritz, K Arbour, N Laventhal
OBJECTIVE: Decision-making for pregnancies complicated by severe congenital anomalies of the kidneys and urinary tract (CAKUT) are ethically challenging, partly because the outcomes are not well studied. STUDY DESIGN: Retrospective cohort study of severe cases of CAKUT over 14 years. RESULTS: Seventy-one of the 108 cases could be completely analyzed. Forty-six percent (n=33) infants were live-born; one-third (n=11) survived to 12 months. Twice as many non-surviving infants received a trial of therapy vs comfort care only...
July 28, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27460642/new-congenital-anomalies-of-the-kidney-and-urinary-tract-and-outcomes-in-robo2-mutant-mice-with-the-inserted-piggybac-transposon
#8
Jialu Liu, Li Sun, Qian Shen, Xiaohui Wu, Hong Xu
BACKGROUND: Disruption of ROBO2 in humans causes vesicoureteral reflux (VUR)/congenital anomalies of the kidney and urinary tract (CAKUT). PiggyBac (PB) is a DNA transposon, and its insertion often reduces-but does not eliminate-gene expression. The Robo2 insertion mutant exhibited non-dilating VUR, ureteropelvic junction obstruction (UPJO) not found in reported models. We studied the incidence and outcomes of VUR/CAKUT in this mutant and explored the relationship between Robo2 gene expression and the occurrence and severity of VUR/CAKUT...
2016: BMC Nephrology
https://www.readbyqxmd.com/read/27364533/transcriptome-wide-based-identification-of-mirs-in-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-in-children-the-significant-upregulation-of-tissue-mir-144-expression
#9
Ivan Jovanovic, Maja Zivkovic, Mirjana Kostic, Zoran Krstic, Tamara Djuric, Ivana Kolic, Dragan Alavantic, Aleksandra Stankovic
BACKGROUND: The genetic cause of most congenital anomalies of the kidney and urinary tract (CAKUT) cases remains unknown, therefore the novel approaches in searching for the common disease denominators are required. miRs regulate gene expression in humans and therefore have potentially therapeutic and biomarker properties. No studies thus far have attempted to explore the miRs in human CAKUT. We applied a new strategy to identify most specific miRs associated with CAKUT, in pediatric patients...
2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27297286/fetal-anomalies-associated-with-hnf1b-mutations-report-of-20-autopsy-cases
#10
Hélène Duval, Laurence Michel-Calemard, Marie Gonzales, Philippe Loget, Claire Beneteau, Annie Buenerd, Madeleine Joubert, Marielee Denis-Musquer, Alix Clemenson, Anne-Laure Chesnais, Sophie Blesson, Isabelle De Pinieux, Anne-Lise Delezoide, Gheorghe Bonyhay, Christine Bellanné-Chantelot, Laurence Heidet, Florence Dupré, Sophie Collardeau-Frachon
OBJECTIVES: To describe macroscopic and microscopic anomalies present in fetuses carrying hepatocyte nuclear factor-1 β mutation, their frequency, and genotype/phenotype correlations. METHODS: Clinical data, ultrasound findings, genetic studies, and autopsy reports of 20 fetal autopsies were analyzed. Histology was reviewed by two pathologists. RESULTS: Macroscopic findings were typically unilateral or bilateral renal enlargement and cortical cysts...
August 2016: Prenatal Diagnosis
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
#11
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/27151922/exome-sequencing-discerns-syndromes-in-patients-from-consanguineous-families-with-congenital-anomalies-of-the-kidneys-and-urinary-tract
#12
Asaf Vivante, Daw-Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb Daouk, Neveen A Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O Kehinde, Velibor Tasic, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families. Using homozygosity mapping and WES, we identified the causative mutations in nine of the 33 families studied (27%)...
May 5, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27150573/agora-a-data-and-biobank-for-birth-defects-and-childhood-cancer
#13
Iris A L M van Rooij, Loes F M van der Zanden, Ernie M H F Bongers, Kirsten Y Renkema, Charlotte H W Wijers, Michelle Thonissen, Elisabeth M J Dokter, Carlo L M Marcelis, Ivo de Blaauw, Marc H W A Wijnen, Peter M Hoogerbrugge, Jos P M Bokkerink, Michiel F Schreuder, Linda Koster-Kamphuis, Elisabeth A M Cornelissen, Livia Kapusta, Arno F J van Heijst, Kian D Liem, Robert P E de Gier, Anne Marie Kuijpers-Jagtman, Ronald J C Admiraal, Stefaan J Bergé, Jan Jaap van der Biezen, An Verdonck, Vincent Vander Poorten, Greet Hens, Jasmien Roosenboom, Marc R Lilien, Tom P de Jong, Paul Broens, Rene Wijnen, Alice Brooks, Barbara Franke, Han G Brunner, Carine E L Carels, Nine V A M Knoers, Wout F J Feitz, Nel Roeleveld
BACKGROUND: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection. METHODS: Children diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank...
August 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27115886/role-of-renal-urothelium-in-the-development-and-progression-of-kidney-disease
#14
REVIEW
Ashley R Carpenter, Kirk M McHugh
The clinical and financial impact of chronic kidney disease (CKD) is significant, while its progression and prognosis is variable and often poor. Studies using the megabladder (mgb (-/-) ) model of CKD show that renal urothelium plays a key role in modulating early injury responses following the development of congenital obstruction. The aim of this review is to examine the role that urothelium has in normal urinary tract development and pathogenesis. We discuss normal morphology of renal urothelium and then examine the role that uroplakins (Upks) play in its development...
April 26, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27040999/maternal-risk-factors-involved-in-specific-congenital-anomalies-of-the-kidney-and-urinary-tract-a-case-control-study
#15
Sander Groen In 't Woud, Kirsten Y Renkema, Michiel F Schreuder, Charlotte H W Wijers, Loes F M van der Zanden, Nine V A M Knoers, Wout F J Feitz, Ernie M H F Bongers, Nel Roeleveld, Iris A L M van Rooij
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we studied potential maternal risk factors in individual phenotypes within the CAKUT spectrum. METHODS: Questionnaire data were collected from parents of 562 children with CAKUT and 2139 healthy controls within the AGORA data- and biobank...
July 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27013924/genetic-basis-of-ureterocele
#16
Karin Schultza, Lia Yoneka Todab
Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of heterogeneous disorders that affect the kidneys, ureters and bladder, with frequent asynchronous presentations and multiple CAKUT associations in the same individual. Urinary tract formation is a complex process, dependent of the interaction of multiple genes and their sub-product. The same genic alterations can lead to different molecular expressions and different morphological anomalies. The ureterocele is a cystic dilation of the distal intramural ureter, resulting in obstruction of urine flow, dilation of the ureter and renal pelvis and loss of renal function...
February 2016: Current Genomics
https://www.readbyqxmd.com/read/27002985/robo2-gene-variants-in-children-with-primary-nonsyndromic-vesicoureteral-reflux-with-or-without-renal-hypoplasia-dysplasia
#17
Artemis G Mitsioni, Ekaterini Siomou, Ioanna Bouba, Stavroula Petridi, Antigoni Siamopoulou, Ioannis Georgiou
BACKGROUND: Primary nonsyndromic vesicoureteral reflux (VUR) and VUR with renal hypoplasia/dysplasia (VUR-RHD) are common congenital anomalies of the kidney and urinary tract (CAKUT). Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD. METHODS: Single-strand conformation polymorphism (SSCP) electrophoresis or multiple restriction fragment SSCP (MRF-SSCP), followed occasionally by direct sequencing, was used to screen 103 patients and 200 controls for nucleotide changes...
July 2016: Pediatric Research
https://www.readbyqxmd.com/read/26994452/signs-and-symptoms-of-developmental-abnormalities-of-the-genitourinary-tract
#18
Paulo Cesar Koch Nogueira, Isabel de Pádua Paz
OBJECTIVE: The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract...
May 2016: Jornal de Pediatria
https://www.readbyqxmd.com/read/26981222/multi-modality-imaging-review-of-congenital-abnormalities-of-kidney-and-upper-urinary-tract
#19
REVIEW
Subramaniyan Ramanathan, Devendra Kumar, Maneesh Khanna, Mahmoud Al Heidous, Adnan Sheikh, Vivek Virmani, Yegu Palaniappan
Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system...
February 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/26941192/copy-number-variations-in-multicystic-dysplastic-kidney-update-for-prenatal-diagnosis-and-genetic-counseling
#20
Qi Xi, Xiangyu Zhu, Yaping Wang, Tong Ru, Chenyan Dai, Zhiqun Wang, Jie Li, Yali Hu
OBJECTIVE: To assess the clinical implication of chromosomal microarray analysis (CMA) in prenatal diagnosis of MCDK. METHODS: Thirty-seven cases with MCDKs detected by prenatal ultrasound were enrolled in the study; 33 cases were isolated MCDKs and four cases were non-isolated MCDKs. CMA was performed on the Affymetrix CytoScan HD platform. The frequencies of the detected CNVs were compared with 461 cases that underwent CMA for anomalies unrelated to congenital anomalies of kidney and urinary tract (CAKUT) or 124 healthy newborns as controls...
May 2016: Prenatal Diagnosis
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