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Congenital hydronephrosis

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https://www.readbyqxmd.com/read/29657681/outcomes-of-isolated-antenatal-hydronephrosis-at-first-year-of-life
#1
Mutaz Orabi, Sameh Abozaid, Bahauddin Sallout, Amani Abu Shaheen, Humariya Heena, Abdulrahman Al Matary
Objectives: To compare the grade of hydronephrosis between the antenatal and first postnatal ultrasound (US) and their clinical outcomes. Methods: This retrospective study included all cases of isolated hydronephrosis detected by antenatal US from August 2005 to February 2011. Hydronephrosis was classified based on the standard criteria into mild, moderate, or severe. Cases associated with other major congenital anomalies were excluded. All patients were followed-up postnatally and outcomes available were analyzed at one year of age...
March 2018: Oman Medical Journal
https://www.readbyqxmd.com/read/29643790/a-case-of-fundus-oculi-albinoticus-diagnosed-as-angelman-syndrome-by-genetic-testing
#2
Yurie Fukiyama, Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Shuichi Shimakawa, Tohru Ogihara, Nobuhiko Okamoto, Tsunehiko Ikeda
Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29621304/trends-in-congenital-anomalies-in-europe-from-1980-to-2012
#3
Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Helen Dolk
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing...
2018: PloS One
https://www.readbyqxmd.com/read/29524854/an-adult-ureterocele-complicated-by-a-large-stone-a-case-report
#4
Omar N Atta, Hussein H Alhawari, Muayyad M Murshidi, Emad Tarawneh, Mujalli M Murshidi
INTRODUCTION: Ureterocele is a cystic dilatation of the lower part of the ureter. It is a congenital anomaly that is associated with other anomalies such as a duplicated system, and other diseases. It poses a great challenge owing to its numerous types and clinical presentations. Its incidence is 1 in every 4000 individuals. One of its presentations in the adult population is the presence of a stone, usually a solitary stone, inside the ureterocele. CASE PRESENTATION: We are reporting a case of an adult ureterocele complicated by a large calculus; managed endoscopically with transurethral deroofing of the ureterocele followed by cystolitholapaxy...
February 28, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29502388/horseshoe-kidney-and-uretero-pelvic-junction-obstruction-in-a-pediatric-patient-laparoscopic-vascular-hitch-a-valid-alternative-to-dismembered-pyeloplasty
#5
Cosimo Bleve, Valeria Bucci, Maria Luisa Conighi, Francesco Battaglino, Lorenzo Costa, Lorella Fasoli, Elisa Zolpi, Salvatore Fabio Chiarenza
Horseshoe kidney (HSK) is a congenital defect of the urinary tract that occurs in 0.25% of the general population. Laparoscopic Vascular Hitch (LVH) according to Hellstrom-Chapman represent an alternative approach in treatment of extrinsic hydronephrosis by crossing vessels (CV) in pediatric age. In our Department from 2006 to 2016, 36 children with extrinsic-Uretero-Pelvic-Junction (UPJ)-Obstruction (UPJO) underwent laparoscopic vessels transposition. Over the last 4years, we have treated three patients with extrinsic hydronephrosis in HSK; two males and one female respectively of 6, 7 and 8years...
December 13, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/29488655/clinical-outcomes-of-non-surgical-management-of-detrusor-leak-point-pressures-above-40-cm-water-in-adults-with-congenital-neurogenic-bladder
#6
Giulia I Lane, Ronak A Gor, Jenna Katorski, Sean P Elliott
AIMS: Neurogenic bladders (NGB) with detrusor leak point pressures >40 cm H2 O (dLPP > 40) have been associated with deterioration of renal function in children with myelomeningocele. For these children, careful pressure management preserves renal function. However, similar evidence is lacking in adult congenital urology (ACU) patients with NGB. We describe renal functional outcomes of non-surgical management of adults with dLPP > 40 or premicturition detrusor pressure (PMDP) >40 cm H2 O, consisting of close follow-up with urodynamic studies (UDS) and renal ultrasound (RUS), paired with adjustments to clean intermittent catheterization (CIC) frequency, anticholinergics, and addition of onabotulinumtoxinA toxin (BTX) injection...
February 28, 2018: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29483821/disruption-of-gen1-causes-congenital-anomalies-of-the-kidney-and-urinary-tract-in-mice
#7
Herui Wang, Chi Zhang, Xiaowen Wang, Yaru Lian, Bin Guo, Miao Han, Xiaoe Zhang, Xiaoting Zhu, Sixian Xu, Zengli Guo, Yunli Bi, Qian Shen, Xiang Wang, Jiaojiao Liu, Yuan Zhuang, Ting Ni, Hong Xu, Xiaohui Wu
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci ( HNF1B , PAX2 , EYA1 , etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 and enhances the transcriptional activity of SIX1/EYA1, a key regulatory complex of the GDNF morphogen...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29480234/computed-tomography-angiography-with-3d-reconstruction-in-diagnosis-of-hydronephrosis-cause-by-aberrant-renal-vessel-a-case-report-and-mini-review
#8
Yunfeng He, Shenjun Luo, Xiaohou Wu, Haitao Yang, Bruce B Zhang, Michael Bleyer, Gang Chen
BACKGROUND: Congenital hydronephrosis is often caused by aberrant renal vessel and it is difficult to be diagnosed and treated at the early stage due to lack of the significant symptoms. Although current medical diagnosis tools are widely used, the aberrant renal vessel cannot be displayed very well in the images. OBJECTIVE: To investigate whether applying computed tomography (CT) angiography with 3D reconstruction can improve efficacy in diagnose of this congenital hydronephrosis...
2018: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/29456226/three-cases-of-prune-belly-syndrome-at-the-lagos-state-university-teaching-hospital-ikeja
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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-regulates-expression-of-connexin43-and-connexin45-in-intestinal-and-ureteral-smooth-muscle-contraction-in-mice
#15
Hanna Langhorst, René Jüttner, Dieter Groneberg, Azadeh Mohtashamdolatshahi, Laura Pelz, Bettina Purfürst, Kai M Schmidt-Ott, Andreas Friebe, Fritz G Rathjen
CAR-like membrane protein (CLMP), an immunoglobulin cell adhesion molecule (IgCAM), has been implicated in congenital short-bowel syndrome in humans, a condition with high mortality for which there is currently no cure. We therefore studied the function of CLMP in a Clmp -deficient mouse model. Although we found that the levels of mRNAs encoding Connexin43 or Connexin45 were not or were only marginally affected, respectively, by Clmp deficiency, the absence of CLMP caused a severe reduction of both proteins in smooth muscle cells of the intestine and of Connexin43 in the ureter...
February 22, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29324920/technetium-99m-dimercaptosuccinic-acid-renal-scintigraphy-can-guide-clinical-management-in-congenital-hydronephrosis
#16
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 (99m Tc-DMSA) scintigraphy in children with congenital hydronephrosis (CH) and the influence of other postnatal associated diagnoses on abnormal 99m Tc-DMSA findings. SUBJECTS AND METHODS: 99m Tc-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
#17
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
#18
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...
May 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
#19
Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Naomi Pode-Shakked, Ben Pode-Shakked, Reuven Achiron, Benjamin Dekel, Yinon Gilboa
OBJECTIVE: The aim of this study was to focus on fetuses diagnosed with severe hydronephrosis and correlate prenatal sonographic characteristics with postnatal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (anterior-posterior renal pelvic diameter >15 mm) were collected retrospectively over a period of 11 years and divided into 2 groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT)...
February 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
#20
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
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