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https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#1
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
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
#2
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/28928250/coexistent-duplication-of-urethra-and-a-refluxing-ectopic-ureter-presenting-as-recurrent-epididymo-orchitis-in-a-child
#3
Ferzine Mohamed, Susan Jehangir
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3-6 per 1000 live births, accounting for most cases of paediatric end-stage kidney disease.(1) However, the molecular basis of CAKUT and anomalies of the external genitalia is poorly understood. We, herein, describe a case with left recurrent epididymo-orchitis with a coexistent urethral duplication and an ectopic ureter with an ipsilateral non-functioning kidney, which is, to the best of our knowledge, the first reported case of its kind...
September 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28927720/neuronal-defects-an-etiological-factor-in-congenital-pelviureteric-junction-obstruction
#4
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/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#5
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#6
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28913123/true-management-of-obstructed-hemi-vagina-and-ipsilateral-renal-anomaly-syndrome
#7
Betül Yakıştıran, Yavuz Emre Şükür, Batuhan Turgay, Cem Atabekoğlu
Herlyn-Werner-Wunderlich syndrome is an unusual congenital anomaly of the female genitourinary system, which is described as uterine didelphys with Obstructed Hemi-vagina and Ipsilateral Renal Anomaly (OHIRA), also known as OHVIRA syndrome. Typical symptoms are pelvic pain, tenderness, pelvic mass due to blood collection in the obstructed hemi-vagina and uterus, and dysmenorrhea that usually begins shortly after menarche. Clinical suspicion is very important for diagnosis and correct management avoids both short- and long-term complications...
December 2016: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#8
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/28893708/ex-vivo-reconstruction-and-autotransplantation-for-hilar-renal-artery-aneurysms-in-patients-with-congenital-anomalies
#9
Jaiyeola Adeyemi, Jacob Johnson, Yevgeniy Rits, A George Akingba, Jeffrey Rubin
Renal artery aneurysms (RAAs) are an uncommon finding but are more often associated with other congenital disorders. The complex (hilar) RAAs constitute a subset of RAAs that present a therapeutic dilemma for the vascular surgeon; because of their anatomic location. This dilemma worsens when hilar RAAs occur with a solitary kidney where organ preservation is vital. Ex-vivo reconstruction with autotransplantation is especially suitable for hilar RAAs, even when they are associated with a solitary kidney. We report two of such cases of RAA's with a solitary kidney in patients with pertinent congenital anomalies...
September 8, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#10
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28892967/bilateral-single-system-orthotopic-ureterocele-with-bilateral-multiple-calculi-presented-with-retention-of-urine-an-urological-emergency
#11
Rupesh Gupta, Sweta Gupta, Dawood Khan, Supriya Basu
The ureterocele is an uncommon congenital anomaly of the lower ureter. Ureterocele with a single pelvicalyceal system, bilateral, and orthotopic variety is less common. Calculi within bilateral ureterocele are a rare occurrence. To the best of our knowledge, only a few similar cases have been reported in the literature. Among the all reported presentations of this type of ureterocele, presentation with Acute Urinary Retention (AUR) has not been described in the literature. We present a case of nine-year-old child having bilateral, single system orthotopic ureterocele with calculi in bilateral ureterocele and presented with AUR due to obstructive bulbar urethral calculus...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28892961/calcium-on-mitral-valve-decipher-aetiopathogenesis
#12
Rohan P Parikh, Ashlesh Tiwari, Sunil Washimkar, Pradeep Deshmukh, Mukund Deshpande
We hereby describe an unusual case of a 17-year-old female with severe mitral regurgitation secondary to heavily calcified immobile valve leaflets. Along with the mitral valve, corneas were also calcified, due to congenital systemic metabolic disorder, distal renal tubular acidosis. Histopathology proved that there was no intrinsic pathology of the mitral valve. Congenital distal renal tubular acidosis with normokalemia presenting with severe mitral and corneal calcification is not known. This case notes important clinical features and is thought to add to the existing knowledge regarding the disease...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28883719/incidence-and-risk-factors-of-atrial-fibrillation-in-asian-copd-patients
#13
Kuang-Ming Liao, Chung-Yu Chen
OBJECTIVE: To investigate the incidence and risk factors of atrial fibrillation (AF) in Asian chronic obstructive pulmonary disease (COPD) patients. PATIENTS AND METHODS: We selected a study population older than 40 years with a COPD diagnosis and who had used at least one inhaled bronchodilator medication between 1998 and 2012. The date of the index COPD diagnosis was defined as the index date. We excluded patients with a history of AF, significant mitral valve disease, disorders of the thyroid gland, or ischemic heart disease before the index date...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28882981/characteristics-of-a-nationwide-cohort-of-patients-presenting-with-isolated-hypogonadotropic-hypogonadism-ihh
#14
Marco Bonomi, Valeria Vezzoli, Csilla Gabriella Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzoccaro, Gianni Russo, Mirella Moro, Letizia Maria Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvatore Cannavò, Andrea M Isidori, Angela I Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Francesca Pregnolato, Mohammad Maghnie, Mario Maggi, Luca Persani
OBJECTIVE: IHH is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altough information on their frequency are scanty, particularly according to the age of presentation. DESIGN: Observational cohort study carried out between January 2008-June 2016 within a national network of academic or general hospitals Methods: We performed a detailed phenotyping of 503 IHH patients with: 1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; 2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28882885/modeling-major-adverse-outcomes-of-pediatric-and-adult-patients-with-congenital-heart-disease-undergoing-cardiac-catheterization-observations-from-the-ncdr-impact-registry
#15
Natalie Jayaram, John A Spertus, Kevin F Kennedy, Robert Vincent, Gerard R Martin, Jeptha P Curtis, David G Nykanen, Phillip M Moore, Lisa Bergersen
Background -Risk-standardization for adverse events following congenital cardiac catheterization is needed to equitably compare patient outcomes among different hospitals as a foundation for quality improvement. The goal of this project was to develop a risk-standardization methodology to adjust for patient characteristics when comparing major adverse outcomes in the NCDR® IMPACT(TM) (Improving Pediatric and Adult Congenital Treatment) Registry. Methods -39,725 consecutive patients within IMPACT undergoing cardiac catheterization between January 2011 and March 2014 were identified...
September 7, 2017: Circulation
https://www.readbyqxmd.com/read/28878612/whole-exome-sequencing-reveals-fat4-mutations-in-a-clinically-unrecognizable-patient-with-syndromic-cakut-a-case-report
#16
Amelie T van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28877681/fibronectin-glomerulopathy-complicated-with-persistent-cloaca-and-congenital-esophageal-atresia-a-case-report-and-literature-review
#17
Misaki Takii, Takaichi Suehiro, Aya Shima, Hideki Yotsueda, Satoshi Hisano, Ritsuko Katafuchi
BACKGROUND: Fibronectin glomerulopathy is a rare, inherited, autosomal dominant, glomerular disease characterized by proteinuria, microscopic hematuria, hypertension, massive glomerular deposits of fibronectin, and slow progression to end-stage renal failure. Because the incident of fibronectin glomerulopathy is extremely low, the pathophysiology, genetic abnormalities, epidemiology, and mechanisms remain to be elucidated. CASE PRESENTATION: We report a 21-year-old woman with fibronectin glomerulopathy, who had been diagnosed with persistent cloaca and congenital esophageal atresia at birth...
September 6, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28873129/association-of-serum-soluble-urokinase-receptor-levels-with-progression-of-kidney-disease-in-children
#18
Franz Schaefer, Howard Trachtman, Elke Wühl, Marietta Kirchner, Salim S Hayek, Ali Anarat, Ali Duzova, Sevgi Mir, Dusan Paripovic, Alev Yilmaz, Francesca Lugani, Klaus Arbeiter, Mieczyslaw Litwin, Jun Oh, Maria Chiara Matteucci, Jutta Gellermann, Simone Wygoda, Augustina Jankauskiene, Günter Klaus, Jiri Dusek, Sara Testa, Aleksandra Zurowska, Alberto Caldas Afonso, Melissa Tracy, Changli Wei, Sanja Sever, William Smoyer, Jochen Reiser
Importance: Conventional methods to diagnose and monitor chronic kidney disease (CKD) in children, such as creatinine level and cystatin C-derived estimated glomerular filtration rate (eGFR) and assessment of proteinuria in spot or timed urine samples, are of limited value in identifying patients at risk of progressive kidney function loss. Serum soluble urokinase receptor (suPAR) levels strongly predict incident CKD stage 3 in adults. Objective: To determine whether elevated suPAR levels are associated with renal disease progression in children with CKD...
September 5, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28872494/the-genetics-of-congenital-heart-disease%C3%A2-understanding-and-improving-long-term-outcomes-in-congenital-heart-disease-a-review-for-the-general-cardiologist-and-primary-care-physician
#19
M Abigail Simmons, Martina Brueckner
PURPOSE OF REVIEW: This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. RECENT FINDINGS: A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28871046/loss-of-ocrl-increases-ciliary-pi-4-5-p2-in-oculocerebrorenal-syndrome-of-lowe
#20
Philipp P Prosseda, Na Luo, Biao Wang, Jorge A Alvarado, Yang Hu, Yang Sun
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL1, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane poorly understood. Here we demonstrate that cilia from Lowe syndrome patient fibroblasts exhibit increased levels of PI(4,5)P2 and decreased levels of PI4P...
September 4, 2017: Journal of Cell Science
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