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hyperoxaluria

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https://www.readbyqxmd.com/read/29777253/translation-inhibition-corrects-aberrant-localization-of-mutant-alanine-glyoxylate-aminotransferase-possible-therapeutic-approach-for-hyperoxaluria
#1
Ruth Belostotsky, Roman Lyakhovetsky, Michael Y Sherman, Fanny Shkedy, Shimrit Tzvi-Behr, Roi Bar, Bernd Hoppe, Björn Reusch, Bodo B Beck, Yaacov Frishberg
Primary hyperoxaluria type 1 is a severe kidney stone disease caused by abnormalities of the peroxisomal alanine-glyoxylate aminotransferase (AGT). The most frequent mutation G170R results in aberrant mitochondrial localization of the active enzyme. To evaluate the population of peroxisome-localized AGT, we developed a quantitative Glow-AGT assay based on the self-assembly split-GFP approach and used it to identify drugs that can correct mislocalization of the mutant protein. In line with previous reports, the Glow-AGT assay showed that mitochondrial transport inhibitors DECA and monensin increased peroxisomal localization of the mutant...
May 18, 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29738022/association-between-glomerular-filtration-rate-measured-by-high-performance-liquid-chromatography-with-iohexol-and-plasma-oxalate
#2
Luciano da Silva Selistre, Pierre Cochat, Dener Lizot Rech, François Parant, Vandréa Carla de Souza, Laurence Dubourg
INTRODUCTION: Secondary hyperoxalemia is a multifactorial disease that affects several organs and tissues in patients with native or transplanted kidneys. Plasma oxalate may increase during renal failure because it is cleared from the body by the kidneys. However, there is scarce evidence about the association between glomerular filtration rate and plasma oxalate, especially in the early stages of chronic kidney disease (CKD). METHODS: A case series focuses on the description of variations in clinical presentation...
April 9, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29705963/metabolite-diagnosis-of-primary-hyperoxaluria-type-3
#3
Lawrence Greed, Frank Willis, Lilian Johnstone, Sharon Teo, Ruth Belostotsky, Yaacov Frishberg, James Pitt
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations in the HOGA1 gene and most cases have been diagnosed after clinical ascertainment, exclusion of other genetic hyperoxalurias and mutation testing. Metabolite testing has not been widely applied but holds promise for the rapid screening and diagnosis of patients who are not specifically suspected to have PH3. CASE-DIAGNOSIS/TREATMENT: Two cases presented with renal calculi...
April 28, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29680019/unraveling-the-mechanisms-of-obesity-induced-hyperoxaluria
#4
Khashayar Sakhaee
Kidney stones is increasingly associated with obesity. With an increasing prevalence of obesity and metabolic syndrome in the past 30 years, urinary oxalate has significantly increased. However, its underlying pathophysiologic mechanisms of hyperoxaluria have not been fully explored. This preclinical study suggests that hyperoxaluria in obesity depends on a complex network of inflammatory responses linked to metabolic outcome. The future mechanistic and clinical investigations must be targeted at elucidating the pathogenetic role of inflammation in obesity induced hyperoxaluria...
May 2018: Kidney International
https://www.readbyqxmd.com/read/29676375/bone-marrow-oxalosis-an-unusual-cause-of-cytopenia-in-end-stage-renal-disease-report-of-two-cases
#5
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones. We describe two rare cases of BM oxalosis. Hyperoxaluria is strongly associated with nephrolithiasis and nephrocalcinosis. Both the patients presented with recurrent renal stones and a variable degree of BM failure. BM oxalosis should be considered as a possible diagnosis in patients in recurrent nephrolithiasis and cytopenia...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29663088/updates-in-the-metabolic-management-of-calcium-stones
#6
REVIEW
Kristina L Penniston, Stephen Y Nakada
PURPOSE OF REVIEW: Urinary risk factors, such as hypercalciuria, hypocitraturia, and hyperoxaluria, either in combination or alone, are associated with calcium stones. Dietary habits as well as underlying medical conditions can influence urinary risk factors. Evaluation of the conglomerate of patients' stone risks provides evidence for individualized medical management, an effective and patient-supported approach to prevention. RECENT FINDINGS: Many patients with stones desire prevention to avoid repeated surgical interventions...
April 16, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29653411/autophagy-inhibition-attenuates-hyperoxaluria-induced-renal-tubular-oxidative-injury-and-calcium-oxalate-crystal-depositions-in-the-rat-kidney
#7
Xiaolu Duan, Zhenzhen Kong, Xin Mai, Yu Lan, Yang Liu, Zhou Yang, Zhijian Zhao, Tuo Deng, Tao Zeng, Chao Cai, Shujue Li, Wen Zhong, Wenqi Wu, Guohua Zeng
Hyperoxaluria-induced oxidative injury of renal tubular epithelial cell is a casual and essential factor in kidney calcium oxalate (CaOx) stone formation. Autophagy has been shown to be critical for the regulation of oxidative stress-induced renal tubular injury; however, little is known about its role in kidney CaOx stone formation. In the present study, we found that the autophagy antagonist chloroquine could significantly attenuate oxalate-induced autophagy activation, oxidative injury and mitochondrial damage of renal tubular cells in vitro and in vivo, as well as hyperoxaluria-induced CaOx crystals depositions in rat kidney, whereas the autophagy agonist rapamycin exerted contrasting effects...
June 2018: Redox Biology
https://www.readbyqxmd.com/read/29642351/re-plasma-oxalate-in-relation-to-egfr-in-patients-with-primary-hyperoxaluria-enteric-hyperoxaluria-and-urinary-stone-disease
#8
Dean G Assimos
No abstract text is available yet for this article.
April 2018: Journal of Urology
https://www.readbyqxmd.com/read/29628851/renal-oxalate-stones-in-children-with-zellweger-spectrum-disorders
#9
Hamdan Hammad Alhazmi
Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae...
April 2018: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29617079/effect-of-phyllanthus-niruri-on-metabolic-parameters-of-patients-with-kidney-stone-a-perspective-for-disease-prevention
#10
Nidia D Pucci, Giovanni S Marchini, Eduardo Mazzucchi, Sabrina T Reis, Miguel Srougi, Denise Evazian, William C Nahas
Phyllanthus niruri (P.niruri) or stone breaker is a plant commonly used to reduce stone risk, however, clinical studies on this issue are lacking. OBJECTIVE: To prospectively evaluate the effect of P. niruri on the urinary metabolic parameters of patients with urinary lithiasis. MATERIALS AND METHODS: We studied 56 patients with kidney stones <10mm. Clinical, metabolic, and ultrasonography assessment was conducted before (baseline) the use of P. niruri infusion for 12-weeks (P...
March 10, 2018: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29588429/hydroxyproline-metabolism-and-oxalate-synthesis-in-primary-hyperoxaluria
#11
Sonia Fargue, Dawn S Milliner, John Knight, Julie B Olson, W Todd Lowther, Ross P Holmes
Background Endogenous oxalate synthesis contributes to calcium oxalate stone disease and is markedly increased in the inherited primary hyperoxaluria (PH) disorders. The incomplete knowledge regarding oxalate synthesis complicates discovery of new treatments. Hydroxyproline (Hyp) metabolism results in the formation of oxalate and glycolate. However, the relative contribution of Hyp metabolism to endogenous oxalate and glycolate synthesis is not known. Methods To define this contribution, we performed primed, continuous, intravenous infusions of the stable isotope [15 N,13 C5 ]-Hyp in nine healthy subjects and 19 individuals with PH and quantified the levels of urinary 13 C2 -oxalate and 13 C2 -glycolate formed using ion chromatography coupled to mass detection...
March 27, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29545831/recurrent-primary-hyperoxaluria-type-2-leads-to-early-post-transplant-renal-function-loss-a-case-report
#12
Si Liu, Baoshan Gao, Gang Wang, Weigang Wang, Xin Lian, Shan Wu, Jinyu Yu, Yaowen Fu, Honglan Zhou
Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case demonstrated that, although primary hyperoxaluria type 2 is rare, hyperoxaluria should be suspected and blood oxalate and stone component be examined in patients with recurrent episodes of nephrolithiasis, particularly in those who are unresponsive to conventional therapies...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29539912/re-an-investigational-rnai-therapeutic-targeting-glycolate-oxidase-reduces-oxalate-production-in-models-of-primary-hyperoxaluria
#13
Dean G Assimos
No abstract text is available yet for this article.
May 2017: Journal of Urology
https://www.readbyqxmd.com/read/29536032/a-successful-approach-to-kidney-transplantation-in-patients-with-enteric-secondary-hyperoxaluria
#14
Joke I Roodnat, Anneke M E de Mik-van Egmond, Wesley J Visser, Stefan P Berger, Wilbert A G van der Meijden, Felix Knauf, Madelon van Agteren, Michiel G H Betjes, Ewout J Hoorn
Background: Enteric hyperoxaluria due to malabsorption may cause chronic oxalate nephropathy and lead to end-stage renal disease. Kidney transplantation is challenging given the risk of recurrent calcium-oxalate deposition and nephrolithiasis. Methods: We established a protocol to reduce plasma oxalic acid levels peritransplantation based on reduced intake and increased removal of oxalate. The outcomes of 10 kidney transplantation patients using this protocol are reported...
December 2017: Transplantation Direct
https://www.readbyqxmd.com/read/29524975/urine-kidney-injury-markers-do-not-increase-following-gastric-bypass-a-multi-center-cross-sectional-study
#15
Bryan D Hinck, Ricardo Miyaoka, James E Lingeman, Dean G Assimos, Brian R Matlaga, Rocky Pramanik, John Asplin, Benjamin Cohen, Manoj Monga
INTRODUCTION: To determine if markers of kidney injury correlate with urinary oxalate excretion. If so, such biomarkers might be early predictors of oxalate nephropathy. Gastric bypass surgery for obesity is known to be associated with postoperative hyperoxaluria, which can lead to urolithiasis and kidney damage. MATERIALS AND METHODS: Patients were recruited from four large academic centers > 6 months following completion of gastric bypass surgery. Patients provided a spot urine sample for analysis of three markers of kidney injury: 8-iso-Prostaglandin F2 α, N-acetyl- β -D-Glucosaminidase, and Neutrophil gelatinase-associated lipocalin...
February 2018: Canadian Journal of Urology
https://www.readbyqxmd.com/read/29493454/design-and-characterization-of-apocynin-loaded-plga-nanoparticles-and-their-in-vivo-efficacy-in-hyperoxaluric-rats
#16
Satvika Sharma, Ankush Parmar, Rishi Bhardwaj, Tanzeer Kaur
Apocynin has become a drug of choice in NADPH oxidase induced pathological conditions. Hyperoxaluria is one such pathological condition where NADPH oxidase is involved in eliciting renal injury. Recently apocynin has shown to reverse the transcriptome profile of the NADPH oxidase-associated genes and reduced oxidative burden in hyperoxaluric animals. The poor solubility of this drug creates certain apprehensions about its bioavailability. PLGA (Poly Lactic co-Glycolic Acid) encapsulation of drug nanoparticles have showed to induce sustain release and henceforth enhance the efficiency and bioavailability of drugs...
February 28, 2018: Current Drug Delivery
https://www.readbyqxmd.com/read/29456210/appraising-the-outcome-and-complications-of-peritoneal-dialysis-patients-in-self-care-peritoneal-dialysis-and-assisted-peritoneal-dialysis-a-5-year-review-of-a-single-saudi-center
#17
Jamal Saleh Al Wakeel, Mohammed A Al Ghonaim, Abdullah Aldohayan, Saira Usama, Saad Al Obaili, Ahmad R Tarakji, Mohammad Alkhowaiter
Our objective is to study the outcomes and complications of peritoneal dialysis (PD) including comparison of self-care PD with home-care assisted PD during a five-year period. A retrospective study of PD data at King Saud University-affiliated hospital in Riyadh from January 1, 2009, to December 31, 2013. One hundred and eleven patients were included (female 55%). The average age was 47.4 (1-83) years. Twenty-one (18.91%) patients were on continuous ambulatory PD and 90 (81.08%) on automated PD. The mean time on PD was 23...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29456205/mutational-analysis-of-agxt-gene-in-libyan-children-with-primary-hyperoxaluria-type-1-at-tripoli-children-hospital
#18
Naziha R Rhuma, Omar A Fituri, Laila T Sabei
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29438773/peroxisomal-disorders-improved-laboratory-diagnosis-new-defects-and-the-complicated-route-to-treatment
#19
Ronald J A Wanders
Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which code for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level have not only allowed the identification of new peroxisomal disorders but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum...
February 10, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29421773/study-of-urine-composition-of-patients-with-recurrent-nephrolithiasis-in-lorestan-iran
#20
Babak Hadian, Azita Zafar-Mohtashami, Fershteh Ghorbani
INTRODUCTION: Nephrolithiasis is one of the most common urinary tract diseases. After the first episode of urinary calculus, the risk of recurrence is nearly 40% to 50% at 5 years. Nephrolithiasis is a systemic disease that is associated with some metabolic disorders. This study aimed to provide a picture of the frequency of metabolic abnormalities in patients with nephrolithiasis from west part of Iran. MATERIALS AND METHODS: Patients with recurrent urinary tract calculi referred to the Nephrology-Urology Clinics in Khorramabad city were recruited...
January 2018: Iranian Journal of Kidney Diseases
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