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Congenital hydronephrosis

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https://www.readbyqxmd.com/read/29456226/three-cases-of-prune-belly-syndrome-at-the-lagos-state-university-teaching-hospital-ikeja
#1
Adaobi U Solarin, Elizabeth A Disu, Henry O Gbelee, Adeola B Animasahaun, Oluwatosin E Aremu, Eucharia Ogbuokiri, Gbemisola O Ogunnaike, Alaba Oladimeji
Prune belly syndrome (PBS) is a rare congenital disorder affecting 2.5 to 3.8/100,000 live births worldwide. Our objective of this report is to describe clinical manifestation, laboratory, and radiological characteristics of PBS in our patients, to highlight the limitations to offering appropriate patient care due to parents demanding discharge against medical advice and the need to increase the awareness regarding this rare disease. We report three cases; all referred after birth with lax abdominal wall, congenital anomalies of kidney, and urinary tract...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29441752/bilateral-obstructive-uropathy-caused-by-congenital-bladder-diverticulum-presenting-as-hypertensive-retinopathy
#2
San Kim, Sang Hoo Park, Dong Yoon Kim, Seok Joong Yun, Ok Jun Lee, Heon Seok Han
A congenital bladder diverticulum (CBD) is caused by inherent muscular weakness instead of obstruction of the bladder outlet. The major clinical conditions are recurrent urinary tract infection (UTI) and voiding dysfunction. This report describes a 15-year-old male adolescent who developed sudden visual disturbance resulting from hypertensive retinopathy. The cause of hypertension was bilateral obstructive uropathy caused by enlarged paraureteral bladder diverticula. After the non-functioning right kidney and ureter and the bilateral diverticula were removed, the left ureter was reimplanted in the bladder...
February 19, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29441108/is-vaginal-reflux-associated-with-urinary-tract-infection-in-female-children-under-the-age-of-36-months
#3
Yu Bin Kim, Chih Lung Tang, Ja Wook Koo
Purpose: To determine the relationship between vaginal reflux (VR) and urinary tract infection (UTI) in female children aged <36 months. Methods: A single center retrospective study was performed for 191 girls aged <36 months, with a diagnosis of febrile UTI, who underwent a voiding cystourethrography (VCUG) for assessment of vesicoureteral reflux (VUR) at Sanggye Paik Hospital. Fifty-one girls, who underwent VCUG for assessment of congenital hydronephrosis or renal pelvis dilatation, without a UTI, formed the control group...
January 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29430113/comparison-of-the-f-20-and-f-15-diuresis-technetium-99m-diethylenetriaminepentacetate-renography-protocols-for-diagnosis-of-ureteropelvic-junction-obstruction-in-adult-patients-with-hydronephrosis
#4
Majhi Tapas Kumar, Singh Hanuwant
Introduction: Hydronephrosis (HDN) in adults is a common presentation and may be due to congenital ureteropelvic junction obstruction. Diuresis renography is the method of choice for differentiating a dilated unobstructed urinary system from a true obstruction. The aim of this study was to compare the F+20 protocol with F-15 protocol and see whether this new protocol can reduce inconclusive results. Materials and Methods: It was a prospective, comparative study included 51 adult patients of primary HDN...
January 2018: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29390355/a-case-report-of-congenital-scoliosis-associated-with-situs-inversus-totalis
#5
Ce Zhu, Shishu Huang, Chunguang Zhou, Xi Yang, Lei Wang, Tingxian Ling, Limin Liu, Yueming Song
RATIONALE: Situs inversus totalis is a rare anomaly disease in which the organs in the chest and abdomen are positioned in a mirror image reversal of normal positions. Although this has been confirmed to be associated with spinal abnormalities, reports about situs inversus totalis with congenital scoliosis remain limited. PATIENT CONCERNS: We present a 9-year-old girl having congenital scoliosis associated with situs inversus totalis. DIAGNOSES: She also had other associated anomalies: ventricular septal defect, mild restrictive ventilatory dysfunction, hydronephrosis, and syringomyelia...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29371079/schizencephaly-in-children-a-single-medical-center-retrospective-study
#6
Po-Cheng Hung, Huei-Shyong Wang, Ming-Liang Chou, Kuang-Lin Lin, Meng-Ying Hsieh, I-Jun Chou, Alex M-C Wong
BACKGROUND: The aim of this study was to evaluate the clinical, and neuroimaging features, outcomes, and other associated systemic disorders in children with schizencephaly at a single medical center in Taiwan. METHODS: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of children with schizencephaly between January 2000 and December 2014. The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders...
January 6, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29361518/the-igcam-clmp-is-required-for-intestinal-and-ureteral-smooth-muscle-contraction-by-regulating-connexin43-and-45-expression-in-mice
#7
Hanna Langhorst, René Jüttner, Dieter Groneberg, Azadeh Mohtashamdolatshahi, Laura Pelz, Bettina Purfürst, Kai M Schmidt-Ott, Andreas Friebe, Fritz G Rathjen
The function of the IgCAM CLMP which is implicated in congenital short-bowel syndrome in humans was studied in mice. Although the levels of mRNAs encoding Connexin43 or 45 are not or only marginally affected, respectively, absence of CLMP caused a severe reduction of both proteins in smooth muscle cells of the intestine and of Connexin43 in the ureter. Analysis of calcium signaling revealed a disordered cell-cell communication between smooth muscle cells which in turn induced an impaired and uncoordinated motility of the intestine and the ureter...
January 19, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29324920/technetium-99m-dimercaptosuccinic-acid-renal-scintigraphy-can-guide-clinical-management-in-congenital-hydronephrosis
#8
Biljana Bazić-Đorović, Marija Radulović, Marija Šišić, Ljiljana Jauković, Sanja Dugonjić, Dragan Pucar, Zoran Janković, Slobodanka Beatović, Milica Janković, Zoran Krstić, Boris Ajdinović
OBJECTIVE: The purpose of this study was to evaluate damage of the kidney with technetium-99m-dimercaptosuccinic acid (99mTc-DMSA) scintigraphy in children with congenital hydronephrosis (CH) and the influence of other postnatal associated diagnoses on abnormal 99mTc-DMSA findings. SUBJECTS AND METHODS: 99mTc-DMSA scintigraphy in 54 children (17 girls and 37 boys), aged from 2 months to 5 years (median 11 months) with 66 congenital hydronephrotic renal units (RU) (42 unilateral hydronephrosis-29 boys and 13 girls; 12 bilateral hydronephrosis-8 boys and 4 girls) was performed...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29324912/diuresis-renography-and-ultrasonography-in-children-with-antenatally-detected-hydronephrosis-can-support-diagnoses-and-suggest-related-surgery-treatment
#9
M Radulović, S Beatović, M Janković, Dragana Šobić-Šaranović, Vera Artiko, Boris Ajdinović
OBJECTIVE: Prenatal ultrasound (US) screening detects the hydronephrosis (HN)-dilatation of fetal renal collecting system in 1%-5% of all pregnancies. In most children, HN is detected by prenatal US screening between 18-20 gestational week. Pelvi- ureteric junction (PUJ) stenosis is the most common etiological factor of prenatal HN and requires postnatal follow-up. Diuresis renography plays important role in the follow-up by complementing morphological information obtained by US with the data about differential renal function (DRF) and drainage...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#10
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29314159/severe-fetal-hydronephrosis-the-added-value-of-associated-congenital-anomalies-of-the-kidneys-and-urinary-tract-cakut-in-the-prediction-of-postnatal-outcome
#11
Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Benjamin Dekel, Naomi Pode-Shakked, Ben Pode-Shakked, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To focus on fetuses diagnosed with severe hydronephrosis and correlate pre-natal sonographic characteristics with post-natal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (APRPD) >15 mm) were collected retrospectively over a period of 11 years and divided into two groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT). RESULTS: 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#12
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29213170/prune-belly-syndrome-a-report-of-15-cases-from-sudan
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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: We sought to define features that describe the dynamic information in diuresis renograms for the early detection of clinically significant hydronephrosis caused by ureteropelvic junction obstruction. MATERIALS AND METHODS: We studied the diuresis renogram of 55 patients with a mean ± age of 80 ± 70 days who had congenital hydronephrosis at initial presentation. Five patients had bilaterally affected kidneys for a total of 60 diuresis renograms. Surgery was performed on 35 kidneys...
October 21, 2017: Journal of Urology
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