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Metabolic stone disease

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https://www.readbyqxmd.com/read/28221143/-metabolic-study-how-to-make-it-accessible-useful-and-generalized
#1
Juan Alberto Lancina Martín
Risk factors should be evaluated in all patients with urinary lithiasis. The kind of evaluation, simplified or extended, depends on stone composition and, in patients with calcium lithiasis, on the clinical presentation. These studies are done in an outpatient regimen, are easy to perform and accessible for most laboratories. Patients with uric acid, infectious and cystine stones only require a selective more abbreviated evaluation. In calcium lithiasis we perform an extended metabolic evaluation in recurrent patients and also in singleepisode patients when they have high recurrence risk...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28221140/-urinary-lithiasis-as-a-systemic-disease
#2
Mercedes Leanez Jiménez, Fernando Candau Vargas-Zúñiga, Carlos Reina Ruiz
Urinary lithiasis is a prevalent disorder of uncertain origin which provokes health problems through potential harm to the urinary system, renal parenchyma or the body as a whole, with a frequent trend to relapse. Historically urinary calculi have been studied and treated as an isolated disease but nowadays we know more about their connection with other pathological entities. In a small percentage of patients, diseases like primary hyperparathyroidism, tubular renal acidosis, inflammatory bowel disease or bariatric surgery have a fairly well studied physiopathological link with kidney stones...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28176358/renal-calcium-oxalate-deposits-induce-a-pro-atherosclerotic-and-pro-osteoporotic-response-in-mice
#3
Kirsten Kusumi, Evan Barr-Beare, Vijay Saxena, Fayez Safedi, Andrew Schwaderer
BACKGROUND: Urinary stone disease (USD) is increasing in adult and pediatric populations Adult and pediatric studies have demonstrated decreased bone mineral density and increased fracture rates. USD has also been independently linked to increased rates of myocardial infarction and cerebral vascular accidents. Although USD is a multisystem disorder involving the kidneys, bone and vasculature, the molecular mechanisms linking these three organs remain unknown. METHODS: Calcium oxalate nephropathy was induced in C57BL/6J mice with intra-peritoneal (ip) injection of sodium glyoxolate...
February 8, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28163717/four-major-factors-contributing-to-intrahepatic-stones
#4
REVIEW
Xi Ran, Baobing Yin, Baojin Ma
Intrahepatic stone is prevalent in Asian countries; though the incidence declines in recent years, the number of patients is still in a large quantity. Because of multiple complications, high recurrence rates, serious systemic damage, and a lack of extremely effective procedure for the management, it is more important to find out the etiology and pathogenesis of intrahepatic stones to prevent the disease from happening and developing rather than curing. A number of factors contribute to the development of the disease, such as cholestasis, infection, and anatomic abnormity of bile duct and bile metabolic defect...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28161266/clinical-spectrum-of-primary-hyperoxaluria-type%C3%A2-1-experience-of-a-tertiary-center
#5
Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb, Khaled M Eweeda, Alaa Fayez
BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients...
February 1, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28160089/urolithiasis-evaluation-dietary-factors-and-medical-management-an-update-of-the-2014-siu-icud-international-consultation-on-stone-disease
#6
Helene Jung, Sero Andonian, Dean Assimos, Timothy Averch, Petrisor Geavlete, Yasuo Kohjimoto, Andreas Neisius, Joe Philip, Alberto Saita, Hemendra Shah, Palle Jörn Osther
PURPOSE: The aim of this review was to provide current best evidence for evaluation, dietary, and medical management of patients with urolithiasis. METHODS: Literature addressing evaluation, dietary, and medical management of urolithiasis was searched. Papers were analyzed and rated according to level of evidence (LOE), whereupon a synthesis of the evidence was made. Grade of recommendation (GOR) was judged from individual clinical experience and knowledge of the evidence according to the Oxford Centre for Evidence-based Medicine...
February 3, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28159561/effects-of-statin-therapy-on-weight-loss-and-diabetes-in-bariatric-patients
#7
Beth A Taylor, Janet Ng, Andrea Stone, Paul D Thompson, Pavlos K Papasavas, Darren S Tishler
BACKGROUND: Bariatric surgeries are considered effective treatments for weight loss and improved diabetes control. Statins increase diabetes onset in prospective clinical trials and many bariatric patients with metabolic disease are concurrently on statins. OBJECTIVES: We retrospectively examined the relationship of statin therapy to weight loss, diabetes mellitus onset and remission, and metabolic outcomes after bariatric surgery. SETTING: Hospital...
November 23, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28148732/loss-of-cmah-during-human-evolution-primed-the-monocyte-macrophage-lineage-toward-a-more-inflammatory-and-phagocytic-state
#8
Jonathan J Okerblom, Flavio Schwarz, Josh Olson, William Fletes, Syed Raza Ali, Paul T Martin, Christopher K Glass, Victor Nizet, Ajit Varki
Humans and chimpanzees are more sensitive to endotoxin than are mice or monkeys, but any underlying differences in inflammatory physiology have not been fully described or understood. We studied innate immune responses in Cmah(-/-) mice, emulating human loss of the gene encoding production of Neu5Gc, a major cell surface sialic acid. CMP-N-acetylneuraminic acid hydroxylase (CMAH) loss occurred ∼2-3 million years ago, after the common ancestor of humans and chimpanzees, perhaps contributing to speciation of the genus HomoCmah(-/-) mice manifested a decreased survival in endotoxemia following bacterial LPS injection...
February 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28011229/differential-colony-size-cell-length-and-cellular-proteome-of-escherichia-coli-isolated-from-urine-vs-stone-nidus-of-kidney-stone-patients
#9
Ratree Tavichakorntrakool, Patcharee Boonsiri, Vitoon Prasongwatana, Aroonlug Lulitanond, Chaisiri Wongkham, Visith Thongboonkerd
BACKGROUND: Escherichia coli is associated with kidney stone disease, as a cause or an effect (secondary or recurrent urinary tract infection, UTI). Defining phenotypic or functional differences between E. coli inside stone nidus (ECS, associated with infection-induced stone) and outside the stone (i.e. from urine) (ECU, represented secondary infection) would be helpful to better understand bacterial involvement in this disease. METHODS: ECS and ECU were isolated from 100 stone formers and subjected to antimicrobial susceptibility test, ERIC-PCR genotyping, determination of biofilm formation, bacterial colony size on agar plate and cell length in broth, 2-DE, nanoLC-MS/MS, protein network analysis, and pyruvate dehydrogenase (PDH) activity assay...
December 21, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27994857/adenine-phosphoribosyltransferase-deficiency-in-the-united-kingdom-two-novel-mutations-and-a-cross-sectional-survey
#10
Gowrie S Balasubramaniam, Monica Arenas-Hernandez, Emilia Escuredo, Lynette Fairbanks, Tony Marinaki, Sarah Mapplebeck, Michael Sheaff, Michael K Almond
BACKGROUND: Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones. METHODS: We present three cases from a single centre with varied presentations to illustrate how increasing awareness led to better patient identification. We then undertook a cross-sectional survey of all the patients identified from the Purine Research Laboratory in the UK since 1974. RESULTS: Our index case presented with recurrent nephrolithiasis and was diagnosed on stone analysis, the second case presented with acute kidney injury and the third case was identified from a biopsy undertaken for acute on chronic kidney injury...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27984724/disease-model-of-gata4-mutation-reveals-transcription-factor-cooperativity-in-human-cardiogenesis
#11
Yen-Sin Ang, Renee N Rivas, Alexandre J S Ribeiro, Rohith Srivas, Janell Rivera, Nicole R Stone, Karishma Pratt, Tamer M A Mohamed, Ji-Dong Fu, C Ian Spencer, Nathaniel D Tippens, Molong Li, Anil Narasimha, Ethan Radzinsky, Anita J Moon-Grady, Haiyuan Yu, Beth L Pruitt, Michael P Snyder, Deepak Srivastava
Mutation of highly conserved residues in transcription factors may affect protein-protein or protein-DNA interactions, leading to gene network dysregulation and human disease. Human mutations in GATA4, a cardiogenic transcription factor, cause cardiac septal defects and cardiomyopathy. Here, iPS-derived cardiomyocytes from subjects with a heterozygous GATA4-G296S missense mutation showed impaired contractility, calcium handling, and metabolic activity. In human cardiomyocytes, GATA4 broadly co-occupied cardiac enhancers with TBX5, another transcription factor that causes septal defects when mutated...
December 15, 2016: Cell
https://www.readbyqxmd.com/read/27959841/kidney-stones-composition-frequency-and-relation-to-metabolic-diagnosis
#12
Francisco R Spivacow, Elisa E Del Valle, Ernesto Lores, Paula G Rey
Nephrolithiasis is one of the most frequent urologic diseases. The aim of this paper is to study the composition and frequency of 8854 patient kidney stones and in a subset of them their metabolic risk factors to be related to their type of calculi. Physicochemical and crystallographic methods were used to assess kidney stone composition. In a subset of 715 patients, we performed an ambulatory metabolic protocol with diagnostic purposes. From the total sample 79% of stones were made of calcium salts (oxalate and phosphate), followed by uric acid stones in 16...
2016: Medicina
https://www.readbyqxmd.com/read/27942796/calcium-urolithiasis-course-in-young-stone-formers-is-influenced-by-the-strength-of-family-history-results-from-a-retrospective-study
#13
Angela Guerra, Andrea Ticinesi, Franca Allegri, Antonio Nouvenne, Silvana Pinelli, Fulvio Lauretani, Marcello Maggio, Gianfranco Cervellin, Loris Borghi, Tiziana Meschi
The role of the strength of family history of stones (FHS), i.e., degree of relatives with the disease, on the course of calcium urolithiasis (CU) is not fully understood, particularly in young patients where genetic background has the greatest influence on disease expression. Thus, with a retrospective cross-sectional design, we examined baseline clinical parameters and urinary chemistries of 369 subjects (196 M) with CU and 96 controls (41 M) aged between 15 and 25 at the time of the first visit at our stone clinic...
December 9, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27904915/studies-using-a-porcine-model-what-insights-into-human-calcium-oxalate-stone-formation-mechanisms-has-this-model-facilitated
#14
REVIEW
Kristina L Penniston, Sutchin R Patel, Denise J Schwahn, Stephen Y Nakada
Animal models are useful in the study of many human diseases. Our current understanding of the biological, physiological, and biochemical aspects of hyperoxaluria and calcium oxalate urolithiasis has been greatly informed by studies using animals. Recently, limitations in the extrapolation to humans of research results derived from laboratory rodents have been identified. The use in biomedical research of a variety of organisms, including large animals, is increasingly encouraged. The purpose of this article is to review the use of pigs in biomedical and stone research, to provide a rationale for using pigs in metabolic stone research, and to describe our 8-year experience in developing a porcine platform for studying hyperoxaluria and calcium oxalate urolithiasis...
February 2017: Urolithiasis
https://www.readbyqxmd.com/read/27896392/tubular-and-genetic-disorders-associated-with-kidney-stones
#15
REVIEW
Nilufar Mohebbi, Pietro Manuel Ferraro, Giovanni Gambaro, Robert Unwin
This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding...
February 2017: Urolithiasis
https://www.readbyqxmd.com/read/27882414/systemic-endothelial-function-measured-by-flow-mediated-dilation-is-impaired-in-patients-with-urolithiasis
#16
Esin Yencilek, Hakan Sarı, Faruk Yencilek, Ezgi Yeşil, Hasan Aydın
Some in vitro and animal studies have shown endothelial dysfunction in hyperoxaluria models indicating its role in pathogenesis of urolithiasis and relation to CVD. The aim of this study was to investigate endothelial function in patients with urolithiasis in relation to urinary stone risk factors and metabolic parameters. A total of 120 subjects without any known CVD (60 with urolithiasis and 60 healthy subjects) were included into study. Fasting blood and 24-h urine samples were collected to study metabolic parameters (glucose and lipids) and urine stone risk factors (oxalate, citrate, uric acid, and calcium, pH)...
November 23, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27872836/urolithiasis-in-inflammatory-bowel-disease-and-bariatric-surgery
#17
Agapios Gkentzis, Michael Kimuli, Jon Cartledge, Olivier Traxer, Chandra Shekhar Biyani
AIM: To analyse current literature focusing on pathogenesis and therapeutic aspects of urolithiasis with inflammatory bowel disease (IBD) and following bariatric surgery. METHODS: A systematic literature search was performed using PubMed, supplemented with additional references. Studies assessing the association of IBD or bariatric surgery with renal stones in both paediatric and adulthood were included. RESULTS: Certain types of stones are seen more frequently with IBD...
November 6, 2016: World Journal of Nephrology
https://www.readbyqxmd.com/read/27865972/paediatric-urolithiasis-in-emerging-economies
#18
REVIEW
S Adibul Hasan Rizvi, Sajid Sultan, Mirza Naqi Zafar, Bashir Ahmed, Sadaf Aba Umer, S A Anwar Naqvi
BACKGROUND: Paediatric urolithiasis remains endemic in low resource countries. This review highlights the epidemiology, causation and management of urolithiasis in an Asian country in the context of emerging economies. METHODS: A literature review of recent articles with key words paediatric urolithiasis, developing countries, endemic stone disease, stone composition, metabolic risk factors, management of paediatric urolithiasis was undertaken and 51 relevant articles were selected with the main focus on experience of this center in managing stone disease in the last two decades...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27847293/clinical-value-of-crystalluria-and-quantitative-morphoconstitutional-analysis-of-urinary-calculi
#19
REVIEW
Vincent Frochot, Michel Daudon
Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27846788/urinary-oxalate-to-creatinine-ratios-in-healthy-turkish-schoolchildren
#20
Ismail Dursun, İlknur Çelik, Hakan M Poyrazoglu, Kader Köse, Esen Tanrıkulu, Habibe Sahin, Kenan Yılmaz, Ahmet Öztürk, Sibel Yel, Zübeyde Gündüz, Ruhan Düşünsel
AIM: we aimed to establish reference values for urinary oxalate to creatinine ratios in healthy children aged 6-15 years and to investigate the relationship between their nutritional habits and oxalate excretion. MATERIALS AND METHODS: Random urine specimens from 953 healthy children aged 6-15 years were obtained and analyzed for oxalate and creatinine. Additionally, a 24-h dietary recall form was prepared and given to them. The ingredient composition of the diet was calculated...
November 15, 2016: Renal Failure
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