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Uric Acid Nephrolithiasis

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361. Uric acid nephrolithiasis: proton titration of an essential molecule? (PubMed)

Uric acid nephrolithiasis: proton titration of an essential molecule? The majority of uric acid nephrolithiasis in humans occurs in the absence of frank hyperuricosuria and is primarily a disease of excessively low urinary pH. Uric acid is substantially less soluble than urate salts so in low urine pH urate is protonated, thus favoring precipitation even under what is considered physiologic concentrations of total urinary uric acid/urate. This commentary examines the rationales behind (...) the existence of uric acid in urine and body fluids in vertebrate evolution.The purpose of uric acid in arthropod, avian and reptilian species is to enable nitrogen excretion in solid state without loss of water. The re-emergence of uric acid in higher primates as an end product of metabolism is intriguing since urea functions perfectly well as a nitrogenous waste. Uric acid must purvey important physiologic functions in primate biology. Numerous roles of uric acid as an antioxidant, immune signaling

2006 Current Opinion in Nephrology and Hypertension

362. Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. (PubMed)

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Uric acid nephrolithiasis (UAN) is a common disease with an established genetic component that presents a complex mode of inheritance. While studying an ancient founder population in Talana, a village in Sardinia, we recently identified a susceptibility locus of approximately 2.5 cM for UAN on 10q21-q22 in a relatively small sample that was carefully selected through (...) gene overlaps this interval. This gene is divided into 15 exons, spanning a region of approximately 300 kb and generating at least four different proteins (407, 333, 462, and 216 amino acids). Interestingly, the last isoform was completely included in the 67-kb associated interval. Computer-assisted analysis of this isoform revealed at least one membrane-spanning domain and several N- and O-glycosylation consensus sites at N-termini, suggesting that it could be an integral membrane protein

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2003 American Journal of Human Genetics

363. Urine composition in type 2 diabetes: predisposition to uric acid nephrolithiasis. (PubMed)

Urine composition in type 2 diabetes: predisposition to uric acid nephrolithiasis. Type 2 diabetes is a risk factor for nephrolithiasis in general and has been associated with uric acid stones in particular. The purpose of this study was to identify the metabolic features that place patients with type 2 diabetes at increased risk for uric acid nephrolithiasis. Three groups of individuals were recruited for this outpatient study: patients who have type 2 diabetes and are not stone formers (n (...) significantly lower in patients with type 2 diabetes and UASF than NV after adjustment for weight and urine sulfate (P < 0.01). For a given urine sulfate, urine net acid excretion tended to be higher in patients with type 2 diabetes versus NV. With increasing urine sulfate, NV and patients with type 2 diabetes had a similar rise in urine ammonium, whereas in UASF, ammonium excretion remained unchanged. The main risk factor for uric acid nephrolithiasis in patients with type 2 diabetes is a low urine pH

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2006 Journal of the American Society of Nephrology : JASN Controlled trial quality: uncertain

364. Identification of a New Candidate Locus for Uric Acid Nephrolithiasis (PubMed)

Identification of a New Candidate Locus for Uric Acid Nephrolithiasis Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all stones, depending on climatic, dietary, and ethnic differences. We studied a small, isolated founder population in Sardinia, characterized by an increased prevalence of uric acid (...) stones, and performed a genomewide search in a deep-rooted pedigree comprising many members who formed uric acid renal stones. The pedigree was created by tracing common ancestors of affected individuals through a genealogical database based on archival records kept by the parish church since 1640. This genealogical information was used as the basis for the study strategy, involving screening for alleles shared among affected individuals, originating from common ancestors, and utilization of large

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2001 American Journal of Human Genetics

365. Pathophysiologic basis for normouricosuric uric acid nephrolithiasis. (PubMed)

Pathophysiologic basis for normouricosuric uric acid nephrolithiasis. Low urinary pH is the commonest and by far the most important factor in uric acid nephrolithiasis but the reason(s) for this defect is (are) unknown. Patients with uric acid nephrolithaisis have normal acid-base parameters according conventional clinical tests.We studied steady-state plasma and urinary parameters of acid-base balance in subjects with normouricosuric pure uric acid stones. We also tested the ability (...) titratable acidity and hypocitraturia. Despite their low baseline urinary pH, uric acid stone formers further acidify their urine after an acid load because of a severely impaired ammonia excretory response. Their characteristics are significantly different from normal volunteers and pure calcium stone formers. Patients with mixed uric acid/calcium stones exhibit intermediate characteristics.We propose that certain patients with normouricosuric uric acid nephrolithiasis have a renal acidification disease

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2002 Kidney International

366. Uric acid nephrolithiasis: current concepts and controversies. (PubMed)

Uric acid nephrolithiasis: current concepts and controversies. Uric acid calculi with or without a calcium component comprise a significant proportion of urinary stones. Knowledge of the pathophysiology of stone formation is important to direct medical treatment. The aim of this review is to provide an update on the epidemiology, pathophysiology and management of uric acid renal stones.A MEDLINE search was performed on the topic of uric acid stones. Current literature was reviewed with regard (...) to the epidemiology, pathophysiology, associated medical conditions and management of uric acid stones.The incidence of uric acid stones varies between countries and accounts for 5% to 40% of all urinary calculi. Hyperuricuria, low urinary output and acidic urine are well known contributing factors. However, the most important factor for uric acid stone formation is persistently acidic urine. Gout and myeloproliferative disorders are associated with uric acid stones. Why most patients with gout present

2002 Journal of Urology

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