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Congenital hydronephrosis

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https://www.readbyqxmd.com/read/29213170/prune-belly-syndrome-a-report-of-15-cases-from-sudan
#1
Abdelmoneim E M Kheir, Eltigani M A Ali, Safaa A Medani, Huda S Maaty
Prune belly syndrome is a rare congenital malformation of unknown aetiology, composed of a triad of deficient abdominal wall muscle, cryptorchidism and urinary tract anomalies. The majority of patients have associated pulmonary, skeletal, cardiac, and gastrointestinal defects. This was a prospective, case finding study that was conducted in the main paediatric hospitals in Khartoum state, during the period December 2015 to September 2016. A total of 15 patients with prune belly syndrome were collected. Patients' characteristics were noted including socio-demographic data, laboratory and radiological investigations and any medical or surgical intervention...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29199452/semaphorin-3a-and-netrin-1-predict-the-development-of-kidney-injury-in-children-with-congenital-hydronephrosis
#2
Xiaobing Li, Xianghua Liu, Ji Li, ELi Song, Ning Sun, Wen Liu, Tian Wang, Jinchang Yang, Zhenzhen Li
Congenital obstructive nephropathy is amongst the main causes of chronic renal failure in children. Early diagnosis and initiation of the treatment will delay progressive renal tubular atrophy and interstitial fibrosis with the loss of nephrons. The aim of this study was to evaluate whether urinary (u) semaphorin-3A (SEMA-3A) and Netrin-1 may be potential biomarkers in children with congenital hydronephrosis due to ureteropelvic junction obstruction (UPJO). The study consisted of 42 children with severe hydronephrosis who needed surgery and two control groups (Control One: 42 children with mild, non-obstructive hydronephrosis; Control Two: 44 healthy children)...
December 3, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#3
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29161808/renal-outcome-of-congenital-anomalies-of-the-kidney-and-urinary-tract-system-a-singe-center-retrospective-study
#4
Rahime Renda
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) have been defined in 20 to 50% of all fetal anomalies. The aim of this study was to determine the demographic and clinical characteristics of such patients, as well as to describe the outcome and risk factors that affect the prognosis. METHODS: The analysis investigated retrospective data from 303 patients diagnosed with CAKUT between January 2015 and April 2017. Demographic data, clinical history, diagnosis, investigations, disease outcomes, and treatment procedures were evaluated...
November 21, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29109083/activated-hedgehog-gli-signaling-causes-congenital-ureteropelvic-junction-obstruction
#5
Sepideh Sheybani-Deloui, Lijun Chi, Marian V Staite, Jason E Cain, Brain J Nieman, R Mark Henkelman, Brandon J Wainwright, S Steven Potter, Darius J Bagli, Armando J Lorenzo, Norman D Rosenblum
Intrinsic ureteropelvic junction obstruction is the most common cause of congenital hydronephrosis, yet the underlying pathogenesis is undefined. Hedgehog proteins control morphogenesis by promoting GLI-dependent transcriptional activation and inhibiting the formation of the GLI3 transcriptional repressor. Hedgehog regulates differentiation and proliferation of ureteric smooth muscle progenitor cells during murine kidney-ureter development. Histopathologic findings of smooth muscle cell hypertrophy and stroma-like cells, consistently observed in obstructing tissue at the time of surgical correction, suggest that Hedgehog signaling is abnormally regulated during the genesis of congenital intrinsic ureteropelvic junction obstruction...
November 6, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29079483/urinary-carbohydrate-antigen-19-9-creatinine-ratio-a-non-invasive-marker-for-follow-up-of-unilateral-ureteropelvic-junction-obstruction-in-children
#6
Farshid Alizadeh, Ali Mohammad Taefnia, Saeid Haghdani
INTRODUCTION: Ureteropelvic junction obstruction (UPJO) is the most common cause of hydronephrosis in children. One major challenge in the management of UPJO is to select the patients that must be subjected to early obstruction relief. Currently, there is no gold standard for this assessment. Therefore, the aim of the present study was to evaluate the urinary levels of carbohydrate antigen (CA) 19-9 and normalized CA 19-9 (Ca 19-9/Cr ratio) in UPJO patients before and after surgery and compare them with a control group to assess their potential clinical application as an assisting tool in diagnosis of UPJO patients...
October 13, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29068584/hydronephrosis-in-the-course-of-ureteropelvic-junction-obstruction-an-underestimated-problem-current-opinions-on-the-pathogenesis-diagnosis-and-treatment
#7
REVIEW
Wojciech Krajewski, Joanna Wojciechowska, Janusz Dembowski, Romuald Zdrojowy, Tomasz Szydełko
Ureteropelvic junction obstruction (UPJO) causes a reduction in the urine flow from the renal pelvis into the ureter. Untreated UPJO may cause hydronephrosis, chronic infection or urolithiasis and will often result in progressive deterioration of renal function. Most cases of UPJO are congenital; however, the disease can be clinically silent until adulthood. Other causes, both intrinsic and extrinsic, are acquired and include urolithiasis, post-operative/inflammatory/ischemic stricture, fibroepithelial polyps, adhesions and malignancy...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29066360/early-detection-of-ureteropelvic-junction-obstruction-using-signal-analysis-and-machine-learning-a-dynamic-solution-to-a-dynamic-problem
#8
Emily S Blum, Antonio R Porras, Elijah Biggs, Pooneh R Tabrizi, Rachael D Sussman, Bruce M Sprague, Eglal Shalaby-Rana, Massoud Majd, Hans G Pohl, Marius George Linguraru
PURPOSE: To define features that describe the dynamic information in diuresis renograms (DR) for the early detection of clinically significant hydronephrosis caused by ureteropelvic junction obstruction. MATERIALS AND METHODS: We studied the DR from 55 patients (age 80±70 days) with congenital hydronephrosis at initial presentation. Five patients had bilaterally affected kidneys, totaling 60 DR. Surgery was performed on 35 kidneys. We extracted 45 features (based on curve shape and wavelet analysis) from the drainage curves recorded after administration of furosemide...
October 21, 2017: Journal of Urology
https://www.readbyqxmd.com/read/29053674/assessing-urinary-tract-junction-obstruction-defects-by-methylene-blue-dye-injection
#9
Kangsun Yun
Urinary tract junction obstruction defects are congenital anomalies inducing hydronephrosis and hydroureter. Murine urinary tract junction obstruction defects can be assessed by tracking methylene blue dye flow within the urinary system. Methylene blue dye is injected into the renal pelvis of perinatal embryonic kidneys and dye flow is monitored from the renal pelvis of the kidney through the ureter and into the bladder lumen after applying hydrostatic pressure. Dye accumulation will be evident in the bladder lumen of the normal perinatal urinary tract, but will be constrained between the renal pelvis and the end point of an abnormal ureter, if urinary tract obstructions occur...
October 12, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29028084/expression-and-clinical-significance-of-aquaporin-1-and-et-1-in-urine-of-children-with-congenital-hydronephrosis
#10
Y Yu, Y-F Kang, K-S Li, Z-H Chen, L Zhang, H-M Zhang, M Zhang
OBJECTIVE: Congenital hydronephrosis is induced by congenital obstruction of uretero pelvic junction, bladder vesicoureteral reflux, posterior urethral valve, stricture of ureter end and ureterocyst, which is extremely apt to cause end-stage renal failure in children. It becomes significant to explore the expression profile and clinical significance of aquaporin-1 (AQP-1) and ET-1 (endothelin-1) in the urine of children with congenital hydronephrosis. PATIENTS AND METHODS: 80 cases of children with congenital hydronephrosis were selected to be the observation group and another 40 cases of children with other diseases were served as control group...
September 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28982546/what-did-we-find-from-imaging-studies-in-childhood-uti-and-which-studies-are-mandatory
#11
Prayong Vachvanichsanong, Pornsak Dissaneewate, Edward McNeil
OBJECTIVE: To evaluate the imaging results of childhood UTI in our setting, and examine if it would be appropriate to apply the recent guideline changes regarding imaging studies as routine practice in Thailand. METHODS: Medical records of UTI children aged 0-15 years were reviewed, with focus on renal ultrasound (RUS), cystogram and (99mTc)dimercaptosuccinic acid (DMSA) renal scan results to determine congenital anomalies of the kidney and urinary tract (CAKUT) and renal damage...
October 2, 2017: Urology
https://www.readbyqxmd.com/read/28931028/the-efficacy-of-extracorporeal-shockwave-lithotripsy-for-symptomatic-ureteral-stones-predictors-of-treatment-failure-without-the-assistance-of-computed-tomography
#12
Bing-Juin Chiang, Chun-Hou Liao, Yu-Hua Lin
OBJECTIVES: Non-contrast computed tomography (NCCT) is not always performed clinically if the diagnosis of ureteral calculi has been confirmed using other radiographic imaging modalities. The aim of this study was to identify predictors of successful extracorporeal shockwave lithotripsy (ESWL) without assistance of NCCT. METHODS: We retrospectively reviewed the medical records of patients with symptomatic solitary ureteral stones who underwent ESWL between November 2015 and January 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28927720/neuronal-defects-an-etiological-factor-in-congenital-pelviureteric-junction-obstruction
#13
Guo Yuan How, Kenneth Tou En Chang, Anette Sundfor Jacobsen, Te-Lu Yap, Caroline Choo Phaik Ong, Yee Low, John Carson Allen, Chik Hong Kuick, Malcolm Zhun Leong Lim, Narasimhan Kannan Laksmi
INTRODUCTION: Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens...
September 1, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#14
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28902181/platelet-derived-growth-factor-receptor-alpha-positive-cells-a-new-cell-type-in-the-human-ureteropelvic-junction
#15
Manuela Hunziker, Anne-Marie O'Donnell, Prem Puri
BACKGROUND: Ureteropelvic junction (UPJ) obstruction is the most common cause of congenital hydronephrosis. Normal ureteral motility requires coordinated interaction between neurons, smooth muscle cells (SMCs), and interstitial Cajal-like cells (IC-LCs). Recently, a new type of interstitial cell, platelet-derived growth factor receptor α-positive (PDGFRα(+)) cells, was discovered in the gastrointestinal tract and bladder.MethodsWe used immunohistochemistry to study PDGFRα protein distribution in normal human UPJ and congenital UPJ obstruction...
December 2017: Pediatric Research
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#16
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28747615/isolated-congenital-megacystis-with-spontaneous-resolution-a-case-report
#17
Toshihiko Nakamura
The patient was a male infant with an antenatal diagnosis of huge intraabdominal mass. Prenatal ultrasound at 35 weeks gestation revealed a markedly enlarged cystic mass in the lower abdomen. After birth at 38 weeks, the infant was allowed to void spontaneously and passed meconium. Ultrasonography showed an enlarged bladder with wall thickness of 2.9 mm and no hydronephrosis. Voiding cystourethrograms showed no evidence of vesicoureteral reflex and posterior urethral valve. The post-void residuals were 15 mL at 11 days of life, 5 mL at 1 month and 0 mL at 5 months...
August 9, 2017: Fukushima Journal of Medical Science
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#18
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28505705/crossed-ectopic-kidney-prenatal-diagnosis-and-postnatal-follow-up
#19
Michal Zajicek, Sharon Perlman, Benjamin Dekel, Einat Lahav, Danny Lotan, Dor Lotan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: The objective of this study is to investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney. METHOD: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28469780/the-relationship-between-amniotic-fluid-mirnas-and-congenital-obstructive-nephropathy
#20
Juntao Xie, Yi Zhou, Wenzong Gao, Zuoqing Li, Zhe Xu, Li Zhou
Exosomes are small membrane vesicles with size of 30-100 nm, which were found in bodily fluids including amniotic fluid and saliva. The biological materials in exosomes, such as proteins and RNA, can be used as novel potential biomarkers for diagnostic assays. The purpose of this study was to assess whether exosomal microRNAs (miRNAs) could be used as biomarkers to prenatally diagnose congenital hydronephrosis and to evaluate fetal kidney function. Transmission electron microscopy (TEM), flow cytometry (FACS), and western-blot were applied to identify exosomes in the amniotic fluid from fetuses with congenital hydronephrosis and healthy controls...
2017: American Journal of Translational Research
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