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https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#1
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29324920/technetium-99m-dimercaptosuccinic-acid-renal-scintigraphy-can-guide-clinical-management-in-congenital-hydronephrosis
#2
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
#3
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/29283090/prenatally-detected-unilateral-high-grade-hydronephrosis-can-we-predict-the-natural-history
#4
Osama M Sarhan, Ahmed El Helaly, Abdul Hakim Al Otay, Mustafa Al Ghanbar, Ziad Nakshabandi
INTRODUCTION: Fetal hydronephrosis (HN) occurs in around 5% of pregnancies and its prognosis depends mainly on the grade of the dilation. We attempted to determine the fate of isolated, unilateral, high-grade HN in children with antenatal diagnosis, emphasizing the risk factors for progression. METHODS: We retrospectively evaluated 424 children (690 kidney units) with antenatal HN in the period between 2010 and 2014. We included only those patients with isolated showed SFU Grade 3 HN in 24 (54%) and SFU Grade 4 HN in 20 (46%)...
December 22, 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29243800/vesicoureteral-reflux-in-infants-what-do-we-know-about-the-gender-prevalence-by-age
#5
N Capozza, C Gulia, Z Heidari Bateni, A Zangari, S Gigli, V Briganti, S Tursini, C J Koh, M Gaffi, S Baldassarra, F Signore, A Porrello, R Piergentili
OBJECTIVE: Vesicoureteral reflux (VUR) affects up to 1% of Caucasian children. Primary VUR is characterized by failure of the ureterovesicular junction to prevent urine from traveling in a retrograde fashion from the bladder to the ureters and the kidneys. Several reports in the literature describe the prevalence of this condition in pediatric patients; overall, VUR affects more males during infancy and with higher grades. However, a thorough consideration of these articles reveals important contradictions regarding the prevalence by gender and age...
December 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29229166/holding-water-congenital-anomalies-of-the-kidney-and-urinary-tract-ckd-and-the-ongoing-role-of-excellence-in-plumbing
#6
REVIEW
Lars J Cisek
Congenital anomalies of the kidneys and urinary tracts can result in diminished natal kidney function, possibly through common embryologic pathway disruption or as a result of development taking place in the face of disordered 'post-renal' drainage. Impaired conduit and reservoir function present potential for an ongoing assault leading to further deterioration and progression of chronic kidney disease, a risk that extends to adults with these conditions, even after "correction". The drainage and storage aspects of the urinary system that can impact kidney function are reviewed with attention to correctable or manageable problems including: Bladder dysfunction wherein the low pressure storage of urine is compromised requiring the kidney to work against a pressure gradient, the classic post renal failure problem...
November 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/29229085/prevalence-of-comorbidities-in-copd-patients-by-disease-severity-in-a-german-population
#7
Timm Greulich, Benjamin J D Weist, Andreas Rembert Koczulla, Sabina Janciauskiene, Andreas Klemmer, Wolfram Lux, Peter Alter, Claus F Vogelmeier
Chronic obstructive pulmonary disease (COPD) is commonly associated with multiple comorbidities. Our objective was to assess the prevalence of comorbidities in patients with COPD and to relate their prevalence to the severity of the disease by using a large German health care database. Based on the retrospective analysis of a two-year (2013-2014) database from the German Statutory Health Insurance system, we obtained a representative sample of 4,075,493 german insurants. This sample included 146,141 patients with COPD (age: ≥35 years)...
November 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29225270/iga-vasculitis-with-simultaneous-cardiopulmonary-involvement-a-case-report
#8
Kazunori Bando, Hirofumi Maeba, Ichiro Shiojima
A 60-year-old man with a history of hypertension, type 2 diabetes, and reflux esophagitis was admitted to our hospital with hemoptysis, dyspnea, and leg edema. We diagnosed him with adult IgA vasculitis based on the presence of purpura, elevated serum IgA fibronectin complexes, pathophysiological findings, a skin biopsy showing leukocytoclastic vasculitis, and immunofluorescence studies demonstrating granular IgA and C3 deposits in the blood vessel wall. He showed concurrent cardiopulmonary involvement without involvement of the gastrointestinal system and kidneys, which are commonly affected in IgA vasculitis patients...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29201520/transurethral-incision-of-ureteroceles-in-paediatric-age-group
#9
Hemanshi Shah, Charu Tiwari, Neha Sisodiya Shenoy, Pankaj Dwivedi, Suraj Gandhi
Objective: Ureteroceles are a great clinical challenge because of variations in anatomy and clinical presentations. We present our experience with primary transurethral incision of ureteroceles in children. Material and methods: Data of thirteen children managed for ureterocele from 2009 to 2016 was retrospectively analyzed with respect to age, sex, clinical presentation and symptomatology, type and localization of ureterocele, investigations, surgical management and follow-up...
December 2017: Turkish Journal of Urology
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
#10
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/29195830/retrograde-intrarenal-surgery-using-ureteral-access-sheaths-is-a-safe-and-effective-treatment-for-renal-stones-in-children-weighing-20%C3%A2-kg
#11
Alfredo Berrettini, Luca Boeri, Emanuele Montanari, Mirella Mogiatti, Pietro Acquati, Elisa De Lorenzis, Andrea Gallioli, Erika Adalgisa De Marco, Dario Guido Minoli, Gianantonio Manzoni
INTRODUCTION: Surgical treatment of pediatric kidney stones has changed dramatically in recent years because of the miniaturization of surgical instruments and the availability of intracorporeal lithotripters. The retrograde intrarenal surgery (RIRS) technique is nowadays considered an effective and safe procedure but studies in very young children are lacking and use of a ureteral access sheath (UAS) has also been debated. OBJECTIVE: To assess safety and efficacy of RIRS using UAS in children weighing < 20 kg...
November 11, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29161808/renal-outcome-of-congenital-anomalies-of-the-kidney-and-urinary-tract-system-a-singe-center-retrospective-study
#12
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/29142969/elucidation-of-renal-scars-in-children-with%C3%A2-vesicoureteral-reflux-using-contrast-enhanced-ultrasound-a-pilot%C3%A2-study
#13
David S Hains, Harris L Cohen, M Beth McCarville, Ellen E Ellison, Amy Huffman, Stacey Glass, Aslam H Qureshi, Keith R Pierce, Ashlyn L Cahill, Ashley Dixon, Noel Delos Santos
Introduction: Vesicoureteral reflux is a common disorder in children but can result in kidney scarring following acute pyelonephritis. The gold standard diagnostic to detect renal scars in children is (99m)Tc-dimercaptosuccinic acid (DMSA) scintigraphy. DMSA has a number of limitations including radiation exposure, need for sedation, and radiotracer supply shortages. Contrast-enhanced ultrasound (CEUS) is a technique whereby biocompatible microspheres of inert gas are administered i.v...
May 2017: KI Reports
https://www.readbyqxmd.com/read/29138878/higher-cost-of-hospitalizations-for-non-cardiac-diagnoses-in-adults-with-congenital-heart-disease
#14
Michael D Seckeler, Ian D Thomas, Jennifer Andrews, Omar Meziab, Tabitha Moe, Elissa Heller, Scott E Klewer
Adults with congenital heart disease (CHD) are a rapidly increasing population and their impact on healthcare resources is not fully understood. The purpose of this study was to describe the costs of hospitalizations for non-cardiac disease for adults with CHD. We conducted a retrospective review of hospital discharge data from the University HealthSystem Consortium Clinical Data Base/Resource Manager from January 2011 through December 2013. Patients were ≥ 18 years old at admission with any ICD-9 code for moderate or high severity CHD; cardiac surgical admissions were excluded...
November 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29133166/determination-of-threshold-value-for-follow-up-of-isolated-antenatal-hydronephrosis-detected-in-the-second-trimester
#15
Ravi de Roo, Bart J Voskamp, C Emily Kleinrouweler, Ben W Mol, Eva Pajkrt, Antonia H M Bouts
INTRODUCTION: Isolated antenatal hydronephrosis (ANH), defined as a dilation of the renal pelvis (≥5 mm), is one of the most common abnormalities detected on prenatal ultrasound. However, established cut-off values for postnatal follow-up differ between countries and are based on little evidence. The current protocol in the Netherlands for follow-up might be too conservative. OBJECTIVE: To assess the applicability of a higher threshold for follow-up of isolated antenatal hydronephrosis (ANH) than the current practice, without the risk of missing significant postnatal urinary tract obstruction...
June 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29112883/a-new-paradigm-for-gerd-pathogenesis-not-acid-injury-but-cytokine-mediated-inflammation-driven-by-hif-2%C3%AE-a-potential-role-for-targeting-hif-2%C3%AE-to-prevent-and-treat-reflux-esophagitis
#16
REVIEW
Rhonda F Souza, Liela Bayeh, Stuart J Spechler, Uttam K Tambar, Richard K Bruick
Traditionally, reflux esophagitis was assumed to develop as a caustic, chemical injury inflicted by refluxed acid. Recently, however, studies in rats and humans suggest that reflux esophagitis develops as a cytokine-mediated inflammatory injury, with hypoxia inducible factor (HIF)-2α playing a major role. In response to the reflux of acid and bile, HIF-2α in esophageal epithelial cells becomes stabilized, thereby increasing production of pro-inflammatory cytokines that attract T lymphocytes and other inflammatory cells to damage the esophagus...
December 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29079659/novel-insights-into-the-pathogenesis-of-monogenic-congenital-anomalies-of-the-kidney-and-urinary-tract
#17
Amelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients...
October 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29071146/posterior-urethral-valves-impact-of-low-birth-weight-and-preterm-delivery-on-the-final-renal-outcome
#18
Osama M Sarhan
OBJECTIVE: To investigate the relationship between low birth weight (LBW; <2.5 kg) and preterm delivery (<37 weeks gestational age) and final renal outcome in infants with posterior urethral valves (PUVs), emphasising the risk factors for the development of chronic kidney disease (CKD). PATIENTS AND METHODS: A retrospective review was performed for all infants with PUVs who were treated between 1990 and 2010. In all, 52 infants were identified to have LBW and/or delivered preterm (Group 1)...
June 2017: Arab Journal of Urology
https://www.readbyqxmd.com/read/29063225/preperitoneal-surgical-approach-to-treat-vesicoureteral-anastomotic-leakage-distal-stenosis-or-reflux-after-kidney-transplantation
#19
Tom Darius, Antoine Buemi, Laurent Coubeau, Nada Kanaan, Pierre Goffette, Michel Mourad
BACKGROUND: If endourological approaches are not applicable to treat vesicoureteral anastomotic complications after kidney transplantation, the surgical gold standard in many transplant centers is pyeloureterostomy or ureteroureterostomy using the native ureter. We report an original preperitoneal technique that can be used for vesicoureteral reanastomosis in kidney transplant recipients not eligible for endourological treatment. METHODS: Between January 2011 and December 2015, 18 kidney transplant recipients underwent this new surgical procedure...
October 23, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29039589/partial-monosomy-8p-and-trisomy-16q-in-two-children-with-developmental-delay-detected-by-array-comparative-genomic-hybridization
#20
Zoe Papadopoulou, Ioannis Papoulidis, Stavros Sifakis, Georgios Markopoulos, Annalisa Vetro, Angeliki-Maria Vlaikou, Monica Ziegler, Thomas Liehr, Loretta Thomaidis, Orsetta Zuffardi, Maria Syrrou, Kitsos George, Emmanouil Manolakos
Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year‑old girl with developmental delay, gross motor milestone delay and dysmorphic features...
December 2017: Molecular Medicine Reports
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