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hyperoxaluria

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https://www.readbyqxmd.com/read/28728813/central-nervous-system-involvement-in-primary-hyperoxaluria-demonstrated-by-brain-ultrasonography
#1
EDITORIAL
Ana Alarcon
No abstract text is available yet for this article.
July 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28718073/a-randomised-phase-ii-iii-study-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#2
Dawn Milliner, Bernd Hoppe, Jaap Groothoff
Primary hyperoxaluria (PH) patients overproduce oxalate because of rare genetic errors in glyoxylate metabolism. Recurrent urolithiasis and/or progressive nephrocalcinosis are PH hallmarks and can lead to kidney damage, systemic oxalosis and death. Based on previous studies, we hypothesised that treatment with the oxalate-metabolizing bacterium Oxalobacter formigenes would mediate active elimination of oxalate from the plasma to the intestine of PH patients, thereby reducing urinary oxalate excretion (Uox)...
July 17, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28717544/is-it-safe-to-prescribe-ascorbic-acid-for-urinary-acidification-in-stone-forming-patients-with-alkaline-urine
#3
Yasser A Noureldin, Alexandrine da Silva, Nader Fahmy, Sero Andonian
OBJECTIVE: To study the effect of ascorbic acid (AA) supplementation on urinary pH, metabolic stone workup parameters, and development of de novo urolithiasis in stone-forming patients. MATERIAL AND METHODS: A retrospective review of the patients followed-up at a tertiary stone centre between September 2009 and October 2015 was performed. Patients with recurrent urolithiasis who received AA supplementation as a urinary acidifying agent were included in the study...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28711958/systematic-assessment-of-urinary-hydroxy-oxo-glutarate-for-diagnosis-and-follow-up-of-primary-hyperoxaluria-type-iii
#4
Ada Ventzke, Markus Feldkötter, Andrew Wei, Jutta Becker, Bodo B Beck, Bernd Hoppe
BACKGROUND: There are currently three distinct autosomal recessive inherited types of primary hyperoxaluria (PH: PHI, PHII, and PHIII), all characterized by the endogenous overproduction of oxalate. The PH type is difficult to differentiate by clinical features alone. In addition to universal general characteristics to all hyperoxaluria subtypes, specific urinary metabolites can be detected: glycolate in PHI, L-glyceric acid in PHII, and hydroxy-oxo-glutarate (HOG) in PHIII. PHIII is considered to be the most benign form and is characterized by severe recurrent urolithiasis in early life, followed by clinical remission in many, but not all patients...
July 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28689648/clinical-and-genetic-characterization-of-chinese-pediatric-cystine-stone-patients
#5
Luming Shen, Xiaoming Cong, Xin Zhang, Ninghong Wang, Ping Zhou, Yan Xu, Qingyi Zhu, Xiaojian Gu
INTRODUCTION: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries. OBJECTIVE: To investigate the characteristics of Chinese pediatric cystine stone patients. PATIENTS AND METHODS: Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated...
June 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28681512/combined-liver-kidney-transplantation-for-primary-hyperoxaluria-type-2-a-case-report
#6
Tsering Dhondup, Elizabeth C Lorenz, Dawn S Milliner, John C Lieske
Combined liver/kidney transplant is the preferred transplant option for most patients with primary hyperoxaluria type 1 (PH1) since orthotopic liver transplantation replaces the deficient liver-specific AGT enzyme, thus restoring normal metabolic oxalate production. However, primary hyperoxaluria type 2 (PH2) is caused by deficient glyoxylate reductase / hydroxypyruvate reductase (GRHPR), and this enzyme is widely distributed throughout the body. Though the relative abundance and activity of GRHPR in various tissues is not clear, some evidence suggests that the majority of enzyme activity may indeed reside within the liver...
July 6, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28660284/primary-hyperoxaluria-in-populations-of-pakistan-origin-results-from-a-literature-review-and-two-major-registries
#7
REVIEW
Jamsheer Jehangir Talati, Sally-Anne Hulton, Sander F Garrelfs, Wajahat Aziz, Shoaib Rao, Amanullah Memon, Zafar Nazir, Raziuddin Biyabani, Saqib Qazi, Iqbal Azam, Aysha Habib Khan, Jamil Ahmed, Lena Jafri, Mohammad Zeeshan
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of Pakistani paediatric stone patients. High rates of consanguinity in Pakistan suggest significant local prevalence. There is no detailed information regarding number of cases, clinical features, and genetics in Pakistan-origin (P-o) patients. We reviewed available information on P-o PH patients recorded in the literature as well as from two major PH registries (the Rare Kidney Stone Consortium PH Registry (RKSCPHR) and the OxalEurope PH Registry (OxER); and the Aga Khan University Hospital in Pakistan...
June 28, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28653383/hyperoxaluria-hyperglycoluria-and-renal-oxalosis-in-gilbert-s-potoroos-potorous-gilbertii
#8
D Forshaw, A M Horwitz, K Ellard, J A Friend, L Greed, M Metz
CASE REPORT: Six Gilbert's potoroos (Potorous gilbertii) in a captive colony, five of which were closely related, died or were euthanased with severe renal disease. Clinical signs were mostly non-specific. Renal calculi were seen on ultrasound of two affected potoroos and oxalate crystalluria was seen in two of three affected potoroos that had urine samples examined. Necropsies revealed extensive severe renal oxalosis in all affected potoroos. These findings and markedly increased concentrations of glycolate in the urine of the four affected potoroos for which it was measured, confirmed a disorder of oxalate metabolism and suggested a condition similar to primary hyperoxaluria type 1 in humans...
July 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28651815/crystal-clear-cerebral-ultrasound-images-mimicking-acute-asphyxia-in-an-infant-with-primary-hyperoxaluria
#9
Giulia Ardemani, Paul Govaert, Esmee Oussoren, Eiske Dorresteijn, Enno Wildschut, Maarten Lequin, Jeroen Dudink
Genetic deficiencies in enzymes involved in glyoxylate metabolism lead to primary hyperoxaluria (PH) type I, typically characterized by deposition of oxalate crystals in kidneys. A 2-month-old infant was admitted, and was diagnosed with renal failure. Abdominal ultrasound images revealed enlarged and hyperechoic kidneys. Additionally, on cerebral ultrasound (CUS) hyperechoic changes of thalami and basal ganglia were noted, reminiscent of perinatal hypoxic-ischemic brain damage. However, MRI of the brain did not show any abnormal signal intensities compatible with asphyxia...
June 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28619084/unusual-clinical-outcome-of-primary-hyperoxaluria-type-1-in-tunisian-patients-carrying-33_34insc-mutation
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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