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hyperoxaluria

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https://www.readbyqxmd.com/read/28619084/unusual-clinical-outcome-of-primary-hyperoxaluria-type-1-in-tunisian-patients-carrying-33_34insc-mutation
#1
Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS: Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1...
June 15, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28602796/is-the-intestinal-microbiome-a-modifiable-cofactor-in-the-development-of-hyperoxaluria-after-roux-en-y-gastric-bypass
#2
EDITORIAL
John C Lieske
No abstract text is available yet for this article.
May 4, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28598458/multidisciplinary-cooperation-in-a-simultaneous-combined-liver-and-kidney-transplantation-patient-of-primary-hyperoxaluria-1
#3
Q Ren, W Ju, D Wang, Z Guo, M Chen, X He
Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase. For patients with end-stage renal disease, combined liver and kidney transplantation was needed. This report describes one patient, with a diagnosis of end-stage renal disease and primary hyperoxaluria 1 confirmed by PCR and direct sequencing with genomic DNA, received the simultaneous combined liver and kidney transplantation after seven months' waiting...
January 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/28577929/mrp-1-and-bcrp-promote-the-externalization-of-phosphatidylserine-in-oxalate-treated-renal-epithelial-cells-implications-for-calcium-oxalate-urolithiasis
#4
YiFu Li, ShiLiang Yu, XiuGuo Gan, Ze Zhang, Yan Wang, YingWei Wang, RuiHua An
OBJECTIVES: To investigate the possible involvement of multidrug resistance-associated protein 1 (MRP-1) and breast cancer resistance protein (BCRP) in the oxalate-induced redistribution of phosphatidylserine (PS) in renal epithelial cell membranes. METHODS: A western blot analysis was used to examine the MRP-1 and BCRP expression levels. Surface-expressed PS was detected by the annexin V-binding assay. The cell-permeable fluorogenic probe 2,7-dichlorofluorescein diacetate (DCFH-DA) was used to measure the intracellular reactive oxygen species (ROS) level...
May 31, 2017: Urology
https://www.readbyqxmd.com/read/28575881/fourier-transform-infrared-analysis-of-urinary-calculi-and-metabolic-studies-in-a-group-of-sicilian-children
#5
Maria Michela D'Alessandro, Giuseppe Gennaro, Pietro Tralongo, Silvio Maringhini
INTRODUCTION: Prevalence of urinary calculi in children has been increasing in the past years. We performed an analysis of the chemical composition of stones formers of the pediatric population in our geographical area over the years 2005 to 2013. MATERIALS AND METHODS: Fourier transform infrared spectroscopy was employed for the determination of the calculus composition of a group of Sicilian children, and metabolic studies were performed to formulate the correct diagnosis and establish therapy...
May 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28569194/severe-child-form-of-primary-hyperoxaluria-type-2-a-case-report-revealing-consequence-of-grhpr-deficiency-on-metabolism
#6
Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
BACKGROUND: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. CASE PRESENTATION: We report a case of a 10-month-old patient diagnosed with urolithiasis...
May 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28567512/total-flavonoids-of-desmodium-styracifolium-attenuates-the-formation-of-hydroxy-l-proline-induced-calcium-oxalate-urolithiasis-in-rats
#7
Jianfu Zhou, Jing Jin, Xiong Li, Zhongxiang Zhao, Lei Zhang, Qian Wang, Jing Li, Qiuhong Zhang, Songtao Xiang
Desmosium styracifolium (D. styracifolium), which is considered as a Chinese herbal medicine, has been reported to treat the kidney stone diseases. However, the potential phytochemically active components and the underlying mechanisms associated with its efficacy in targeting urolithiasis remain to be elucidated. This study aims to investigate the anti-urolithiatic effect of total flavonoids of D. styracifolium (TFDS) on calcium oxalate (CaOx) renal stones in Sprague-Dawley rats. Animal models of CaOx urolithiasis were established in male Sprague-Dawley rats by adding 5% w/w hydroxy-L-proline (HLP) in regular rat chow...
May 31, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28553045/clinical-and-genetic-profile-of-indian-children-with-primary-hyperoxaluria
#8
A Pinapala, M Garg, N Kamath, A Iyengar
Primary hyperoxaluria (PH) has heterogeneous renal manifestations in infants and children. This often leads to delay in diagnosis. In the past 3 years, genetic samples were sent for seven children with a clinical diagnosis of PH. Their medical records were reviewed for clinical presentation and outcomes. Of the seven children, three were males. The median age of presentation was 4.9 years with the youngest presenting at 3 months of age. Nephrolithiasis, the most common presentation was associated with renal dysfunction in two children...
May 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28552742/oxalobacter-formigenes-colonization-normalizes-oxalate-excretion-in-a-gastric-bypass-model-of-hyperoxaluria
#9
Benjamin K Canales, Marguerite Hatch
BACKGROUND: Hyperoxaluria and oxalate kidney stones frequently develop after Roux-en-Y gastric bypass (RYGB). Oxalobacter formigenes can degrade ingested oxalate. OBJECTIVES: Examine the effect of O. formigenes wild rat strain (OXWR) colonization on urinary oxalate excretion and intestinal oxalate transport in a hyperoxaluric RYGB model. SETTING: Basic Science Laboratory, United States. METHODS: At 21 weeks of age, 28 obese male Sprague-Dawley rats survived Sham (n = 10) or RYGB (n = 18) surgery and were maintained on a 1...
March 23, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28551940/-oxalate-stones-are-prevalent-among-druze-and-muslim-arabs-in-the-galilee
#10
Limor Kalfon, Irit Weissman, Miriam Hershkovits, Nadra Nasser Samra, Nurit Edri, Morad Khayat, Mary Tanus, Shihab Shihab, Hanna Mandel, Tzipora Falik-Zaccai
INTRODUCTION: Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT. AIMS: To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel. METHODS: In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center...
March 2017: Harefuah
https://www.readbyqxmd.com/read/28550437/hyperoxaluria-in-a-model-of-mini-gastric-bypass-surgery-in-rats
#11
Milene S Ormanji, Fernando Korkes, Renata Meca, Crysthiane S R A Ishiy, Gustavo H C Finotti, Renato R N Ferraz, Ita P Heilberg
BACKGROUND: Bariatric surgery is associated with hyperoxaluria hence predisposing to nephrolithiasis. The present study aimed to investigate the underlying mechanisms contributing to increased urinary oxalate in a mini-gastric bypass (MGB) surgery model in rats under different dietary conditions. The expression of intestinal oxalate transporters was also evaluated. METHODS: Male rats underwent MGB (n = 21) or Sham procedure (n = 21) and after recovery were fed a standard or high-fat diet with or without oxalate for 8 weeks...
May 26, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28505910/re-a-randomised-phase-i-ii-trial-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#12
https://www.readbyqxmd.com/read/28489752/enteric-hyperoxaluria-in-chronic-pancreatitis
#13
Nathalie Demoulin, Zaina Issa, Ralph Crott, Johann Morelle, Etienne Danse, Pierre Wallemacq, Michel Jadoul, Pierre H Deprez
Chronic pancreatitis may lead to steatorrhea, enteric hyperoxaluria, and kidney damage. However, the prevalence and determinants of hyperoxaluria in chronic pancreatitis patients as well as its association with renal function decline have not been investigated.We performed an observational study. Urine oxalate to creatinine ratio was assessed on 2 independent random urine samples in consecutive adult patients with chronic pancreatitis followed at the outpatient clinic from March 1 to October 31, 2012. Baseline characteristics and annual estimated glomerular filtration rate (eGFR) change during follow-up were compared between patients with hyper- and normo-oxaluria...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28480348/antiurolithic-effect-of-olive-oil-in-a-mouse-model-of-ethylene-glycol-induced-urolithiasis
#14
Mohammed Alenzi, Shaik Rahiman, Bilal Ahmad Tantry
PURPOSE: At present, commercially available antiurolithic drugs have more adverse effects than potential therapeutic or preventive effects with chronic use. With this in mind, the present study was designed to assess the antiurolithic effect of olive oil in a mouse model of ethylene glycol (EG)-induced urolithiasis. MATERIALS AND METHODS: Adult albino mice were divided into 6 groups. Group I was fed the vehicle only. Group II was supplemented with 0.75% EG alone in drinking water during the experimental period to initiate deposition of calcium oxalate in kidneys, which leads to urolithiasis in animals...
May 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28457074/nephrolithiasis-in-israel-epidemiological-characteristics-of-return-patients-in-a-tertiary-care-center
#15
Yasmin Abu-Ghanem, Nir Kleinmann, Harry Z Winkler, Dorit E Zilberman
BACKGROUND: The prevalence and etiology of nephrolithiasis vary, depending on geography, gender and ethnicity. OBJECTIVES: To analyze the demographic data of return nephrolithiasis patients in a tertiary care center. METHODS: We retrospectively reviewed our prospective registry database of return patients seen at our outpatient clinic for nephrolithiasis. Data included gender, age at first visit, age at first stone event, body mass index (BMI), self-reported hypertension, diabetes mellitus (DM), and hyperlipidemia...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28442375/implication-of-hyperoxaluria-on-osteopontin-and-er-stress-mediated-apoptosis-in-renal-tissue-of-rats
#16
Rishi Bhardwaj, Ankita Bhardwaj, Chanderdeep Tandon, Devinder K Dhawan, Rakesh Kumar Bijarnia, Tanzeer Kaur
Hyperoxaluria is a stress that leads to calcium oxalate crystal deposition which further causes inflammation and renal cell necroptosis. Many studies have linked osteopontin expression with apoptosis and inflammation but so far its association with apoptosis with regard to hyperoxaluria is undiscovered. Moreover, a recent report has suggested that osteopontin induces endoplasmic reticulum stress and subsequently apoptosis in myocytes. In this study, the impact of hyperoxaluria on the modulation of osteopontin expression and endoplasmic reticulum (ER) stress mediated apoptosis in rats is explored...
April 24, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28435765/chronic-nephropathy-from-dietary-hyperoxaluria-sustained-improvement-of-renal-function-after-dietary-intervention
#17
Yijuan Sun, Bruce L Horowitz, Karen S Servilla, Joanna R Fair, Darlene Vigil, Kavitha Ganta, Larry Massie, Antonios H Tzamaloukas
A 56-year-old man with stable chronic kidney disease (CKD) for two years following a single episode of calcium oxalate urolithiasis developed progressive elevation of his serum creatinine concentration. Urinalysis revealed pyuria and white cell casts, a few red blood cells, minimal proteinuria, and no crystals. Urine culture was sterile. Gallium scintigraphy was consistent with interstitial nephritis. Proton pump inhibitor intake was discontinued, and a short course of oral corticosteroids was initiated. Percutaneous kidney biopsy, performed because of the continued deterioration of renal function to a minimum estimated glomerular filtration rate (eGFR) value of 15 mL/min per 1...
March 20, 2017: Curēus
https://www.readbyqxmd.com/read/28425073/molecular-therapy-of-primary-hyperoxaluria
#18
Cristina Martin-Higueras, Armando Torres, Eduardo Salido
During the last few decades, the molecular understanding of the mechanisms involved in primary hyperoxalurias (PHs) has set the stage for novel therapeutic approaches. The availability of PH mouse models has facilitated preclinical studies testing innovative treatments. PHs are autosomal recessive diseases where the enzymatic deficit plays a central pathogenic role. Thus, molecular therapies aimed at restoring such deficit or limiting the consequences of the metabolic derangement could be envisioned, keeping in mind the specific challenges posed by the cell-autonomous nature of the deficiency...
April 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28420322/epidemiology-of-paediatric-renal-stone-disease-a-22-year-single-centre-experience-in-the-uk
#19
Naomi Issler, Stephanie Dufek, Robert Kleta, Detlef Bockenhauer, Naima Smeulders, William Van't Hoff
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology. METHODS: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted...
April 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28405703/metabolic-syndrome-contributes-to-renal-injury-mediated-by-hyperoxaluria-in-a-murine-model-of-nephrolithiasis
#20
Javier Sáenz-Medina, E Jorge, C Corbacho, M Santos, A Sánchez, P Soblechero, E Virumbrales, E Ramil, M J Coronado, I Castillón, D Prieto, J Carballido
Metabolic syndrome (MS) individuals have a higher risk of developing chronic kidney disease through unclear pathogenic mechanisms. MS has been also related with higher nephrolithiasis prevalence. To establish the influence of MS on renal function, we designed a murine model of combined metabolic syndrome and hyperoxaluria. Four groups of male Sprague-Dawley rats were established: (1) control group (n = 10) fed with standard chow; (2) stone former group (SF) (n = 10) fed with standard chow plus 0.75% ethylene glycol administered in the drinking water; (3) metabolic syndrome group (MS) (n = 10), fed with 60% fructose diet; (4) metabolic syndrome + stone former group (MS + SF) (n = 10), 60% fructose diet and 0...
April 12, 2017: Urolithiasis
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