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Metabolic stone disease

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https://www.readbyqxmd.com/read/29618761/qil1-dependent-assembly-of-micos-complex-lethal-mutation-in-c19orf70-resulting-in-liver-disease-and-severe-neurological-retardation
#1
J Gödiker, M Grüneberg, I DuChesne, J Reunert, S Rust, C Westermann, Y Wada, G Classen, C D Langhans, K P Schlingmann, R J Rodenburg, R Pohlmann, T Marquardt
Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and structure. QIL1 (also named MIC13) is a small complex that is crucial for the maintenance and assembling of MICOS. A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and lactate acidosis consistent with psychomotor retardation. In addition, bilateral kidney stones were observed...
April 4, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29617079/effect-of-phyllanthus-niruri-on-metabolic-parameters-of-patients-with-kidney-stone-a-perspective-for-disease-prevention
#2
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/29609582/ex-met-study-exercise-in-prevention-on-of-metabolic-syndrome-a-randomized-multicenter-trial-rational-and-design
#3
Arnt Erik Tjønna, Joyce S Ramos, Axel Pressler, Martin Halle, Klaus Jungbluth, Erika Ermacora, Øyvind Salvesen, Jhennyfer Rodrigues, Carlos Roberto Bueno, Peter Scott Munk, Jeff Coombes, Ulrik Wisløff
BACKGROUND: Metabolic syndrome substantially increases risk of cardiovascular events. It is therefore imperative to develop or optimize ways to prevent or attenuate this condition. Exercise training has been long recognized as a corner-stone therapy for reducing individual cardiovascular risk factors constituting the metabolic syndrome. However, the optimal exercise dose and its feasibility in a real world setting has yet to be established. The primary objective of this randomized trial is to investigate the effects of different volumes of aerobic interval training (AIT) compared to the current exercise guideline of moderate-intensity continuous training (MICT) on the composite number of cardiovascular disease risk factors constituting the metabolic syndrome after a 16 week, 1-year, and 3-year follow-up...
April 2, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29601406/sex-differences-in-subclinical-coronary-atherosclerotic-plaque-among-individuals-with-hiv-on-antiretroviral-therapy
#4
Borek Foldyna, Lindsay T Fourman, Michael T Lu, Martin E Mueller, Balint Szilveszter, Tomas G Neilan, Jennifer E Ho, Tricia H Burdo, Emily S Lau, Lauren A Stone, Mabel Toribio, Suman Srinivasa, Sara E Looby, Janet Lo, Kathleen V Fitch, Markella V Zanni
BACKGROUND: In high-resource settings, the HIV-attributable risk of myocardial infarction (MI) is higher among women than among men. The extent to which unique mechanisms contribute to MI risk among women vs. men with HIV remains unclear. METHODS: Subclinical coronary atherosclerotic plaque characteristics - including high-risk morphology plaque features - were compared among 48 HIV-infected women (48 [41, 54] years) and 97 HIV-infected men (48 [42, 52] years) on stable antiretroviral therapy (ART) without known cardiovascular disease...
March 27, 2018: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/29594505/urinary-stone-risk-factors-in-the-descendants-of-patients-with-kidney-stone-disease
#5
Thasinas Dissayabutra, Nuttiya Kalpongkul, Jakkhaphan Rattanaphan, Chanchai Boonla, Monpicha Srisa-Art, Wattanachai Ungjaroenwathana, Piyaratana Tosukhowong
BACKGROUND: Evidence has indicated that immediate family members of nephrolithiasis patients had high opportunity to develop stones. However, they are usually not regarded to be at risk, since it is unclear if there are any lithogenic abnormalities found in non-stone-forming nephrolithiasis relatives. Our aim was to investigate urinary metabolic abnormalities in the children of nephrolithiasis patients, compared with the general population. METHODS: The 24-h urinary metabolic profile was studied for 28 calcium oxalate nephrolithiasis patients (NL) and 46 of their descendants (ND), as well as 40 non-stone-forming volunteers (V) and 34 of their descendants (VD)...
March 28, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29588429/hydroxyproline-metabolism-and-oxalate-synthesis-in-primary-hyperoxaluria
#6
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 urinary13 C2 -oxalate and13 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/29545169/integrating-multi-source-information-on-a-single-network-to-detect-disease-related-clusters-of-molecular-mechanisms
#7
Margarita Zachariou, George Minadakis, Anastasis Oulas, Sotiroula Afxenti, George M Spyrou
The abundance of available information for each disease from multiple sources (e.g. as genetic, regulatory, metabolic, and protein-protein interaction) constitutes both an advantage and a challenge in identifying disease-specific underlying mechanisms. Integration of multi-source data is a rising topic and a great challenge in precision medicine and is crucial in enhancing disease understanding, identifying meaningful clusters of molecular mechanisms and increasing precision and personalisation towards the goal of Predictive, Preventive and Personalised Medicine (PPPM)...
March 12, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29510180/metabolic-syndrome-and-uric-acid-nephrolithiasis-insulin-resistance-in-focus
#8
REVIEW
Spatola Leonardo, Ferraro Manuel Pietro, Gambaro Giovanni, Badalamenti Salvatore, Dauriz Marco
Uric acid nephrolithiasis (UAN) is an increasingly common disease in ethnically diverse populations and constitutes about 10% of all kidney stones. Metabolic syndrome and diabetes mellitus are accounted amongst the major risk factors for UAN, together with environmental exposure, individual lifestyle habits and genetic predisposition. The development and overt manifestation of UAN appears to stem on the background of insulin resistance, which acts at the kidney level by reducing urinary pH, thus hampering the ability of the kidney to generate renal ammonium in response to an acid load...
March 3, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29506475/intlim-integration-using-linear-models-of-metabolomics-and-gene-expression-data
#9
Jalal K Siddiqui, Elizabeth Baskin, Mingrui Liu, Carmen Z Cantemir-Stone, Bofei Zhang, Russell Bonneville, Joseph P McElroy, Kevin R Coombes, Ewy A Mathé
BACKGROUND: Integration of transcriptomic and metabolomic data improves functional interpretation of disease-related metabolomic phenotypes, and facilitates discovery of putative metabolite biomarkers and gene targets. For this reason, these data are increasingly collected in large (> 100 participants) cohorts, thereby driving a need for the development of user-friendly and open-source methods/tools for their integration. Of note, clinical/translational studies typically provide snapshot (e...
March 5, 2018: BMC Bioinformatics
https://www.readbyqxmd.com/read/29496260/hyperuricemia-acute-and-chronic-kidney-disease-hypertension-and-cardiovascular-disease-report-of-a-scientific-workshop-organized-by-the-national-kidney-foundation
#10
Richard J Johnson, George L Bakris, Claudio Borghi, Michel B Chonchol, David Feldman, Miguel A Lanaspa, Tony R Merriman, Orson W Moe, David B Mount, Laura Gabriella Sanchez Lozada, Eli Stahl, Daniel E Weiner, Glenn M Chertow
Urate is a cause of gout, kidney stones, and acute kidney injury from tumor lysis syndrome, but its relationship to kidney disease, cardiovascular disease, and diabetes remains controversial. A scientific workshop organized by the National Kidney Foundation was held in September 2016 to review current evidence. Cell culture studies and animal models suggest that elevated serum urate concentrations can contribute to kidney disease, hypertension, and metabolic syndrome. Epidemiologic evidence also supports elevated serum urate concentrations as a risk factor for the development of kidney disease, hypertension, and diabetes, but differences in methodologies and inpacts on serum urate concentrations by even subtle changes in kidney function render conclusions uncertain...
February 26, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29472305/metabolic-and-hypertensive-complications-of-pregnancy-in-women-with-nephrolithiasis
#11
Jessica Sheehan Tangren, Camille E Powe, Jeffrey Ecker, Kate Bramham, Elizabeth Ankers, S Ananth Karumanchi, Ravi Thadhani
BACKGROUND AND OBJECTIVES: Kidney stones are associated with future development of hypertension, diabetes, and the metabolic syndrome. Our objective was to assess whether stone formation before pregnancy was associated with metabolic and hypertensive complications in pregnancy. We hypothesized that stone formation is a marker of metabolic disease and would be associated with higher risk for maternal complications in pregnancy. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted a retrospective cohort study of women who delivered infants at the Massachusetts General Hospital from 2006 to 2015...
February 22, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29468561/chronic-pain-in-medullary-sponge-kidney-a-rare-and-never-described-clinical-presentation
#12
G Gambaro, D S Goldfarb, R Baccaro, J Hirsch, N Topilow, S D'Alonzo, G Gambassi, P M Ferraro
Medullary sponge kidney (MSK) is a cause of nephrocalcinosis, associated with hematuria, renal colic, pyelonephritis. There are rare and atypical MSK cases characterized by chronic severe pain (CP), whose features are unknown, in particular the relationship with the stone disease activity. This study analyzes a cohort of MSK-CP patients belonging to three North-America self-support Facebook groups. Patients had to self-administer an on-line questionnaire (on intensity, progression and MSK-associated conditions, stone-related disease, pain features, drug use), the Brief Pain Inventory, the Fatigue Severity Score, and Wisconsin Quality of Life (WQL) in stone formers questionnaires...
February 21, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29444590/-stone-trees-metabolic-evaluation-and-medical-treatment-of-the-urolithiasis-patient-made-easy
#13
Ralph V Clayman, Roshan M Patel, Margaret S Pearle
In this review, a simplified straightforward algorithmic approach to the metabolic evaluation and treatment of the at-risk or recurrent urolithiasis patient is provided. Eight diagnoses and eight therapies are provided which cover over 95% of renal stone disease.
February 14, 2018: Journal of Endourology
https://www.readbyqxmd.com/read/29428801/hipk2-polymorphisms-rs2058265-rs6464214-and-rs7456421-were-associated-with-kidney-stone-disease-in-chinese-males-not-females
#14
Haisong Lin, Xiujuan Zhu, Jun Long, Yang Chen, Yuanliang Xie, Ming Liao, Jianxin Chen, Jiarong Tian, Shengzhu Huang, Ruiqiang Tang, Xiaoying Xian, Suchun Wei, Qiuyan Wang, Zengnan Mo
BACKGROUND AND AIM: Recent studies have shown that genetic factors are involved in the development of kidney stone disease (KSD). A case-control association analysis was performed to investigate the association between homeodomain-interacting protein kinase 2 (HIPK2; OMIM *606868) polymorphisms and KSD. METHODS: A total of 890 KSD patients and 920 healthy subjects were analyzed. Polymorphisms were genotyped using SNPscanTM high-throughput SNP classification technology...
February 8, 2018: Gene
https://www.readbyqxmd.com/read/29412125/the-endocannabinoid-system-and-heart-disease-the-role-of-cannabinoid-receptor-type-2
#15
M L Fulmer, Douglas P Thewke
Decades of research has provided evidence for the role of the endocannabinoid system in human health and disease. This versatile system, consisting of two receptors (CB1 and CB2), their endogenous ligands (endocannabinoids), and metabolic enzymes has been implicated in a wide variety of disease states, ranging from neurological disorders to cancer. CB2 has gained much interest for its beneficial immunomodulatory role that can be obtained without eliciting psychotropic effects through CB1. Recent studies have shed light on a protective role of CB2 in cardiovascular disease, an ailment which currently takes more lives each year in Western countries than any other disease or injury...
February 6, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29362952/the-role-of-the-clinician-in-the-multi-omics-era-are-you-ready
#16
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, Mirjam Langeveld, Carlos R Ferreira, Jiddeke M van de Kamp, Carla E Hollak, Wyeth W Wasserman, Hans R Waterham, Ron A Wevers, Tobias B Haack, Ronald J A Wanders, Kym M Boycott
Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment...
January 23, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29344880/the-role-of-zinc-in-urinary-stone-disease
#17
REVIEW
Armando Luis Negri
In recent years, the role of trace elements in lithogenesis has received steadily increasing attention. It is well documented that some trace elements can influence the morphology and speed of the crystallization process. Zinc has been found in significant amounts in calcium stones relative or organic stones (uric acid and cystine), probably substituting calcium in crystals because of their similarity in charge and size. High Zn levels are present in carbapatite of Randal's plaques suggesting that zinc could promote calcium phosphate deposition in the medullar interstitium...
January 17, 2018: International Urology and Nephrology
https://www.readbyqxmd.com/read/29277886/the-respiratory-induced-kidney-motion-does-it-really-effect-the-shock-wave-lithotripsy
#18
Mehmet Ozgur Yucel, Serkan Ozcan, Gokhan Tirpan, Murat Bagcioglu, Arif Aydin, Arif Demirbas, Tolga Karakan
PURPOSE: To investigate the effect of respiratory induced kidney mobility on success of shock wave lithotripsy (SWL) with an electrohydraulic lithotripter. MATERIALS AND METHODS: Between May 2013 and April 2015, 158 patients underwent SWL treatment for kidney stones with an electrohydraulic lithotripter. The exclusion criteria were presence of a known metabolic disease (such as cystinuria), non-opaque stones, need for focusing with ultrasonography, abnormal habitus, urinary tract abnormalities, and inability to tolerate SWL until the end of the procedure...
January 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/29244251/effect-of-combination-folic-acid-vitamin-b-6-and-vitamin-b-12-supplementation-on-fracture-risk-in-women-a-randomized-controlled-trial
#19
Katie L Stone, Li-Yung Lui, William G Christen, Aron M Troen, Douglas C Bauer, Deborah Kado, Christopher Schambach, Steven R Cummings, JoAnn E Manson
Epidemiologic studies have demonstrated an association of elevated plasma homocysteine levels with greater bone resorption and fracture risk. Vitamins B12 , B6 , and folic acid are cofactors in homocysteine metabolism, and supplementation with B vitamins is effective in lowering homocysteine levels in humans. However, randomized trials of supplemental B vitamins for reduction of fracture risk have been limited. Therefore, we performed an ancillary study to the Women's Antioxidant and Folic Acid Cardiovascular Study (WAFACS), a large randomized trial of women with preexisting cardiovascular disease or three or more coronary risk factors, to test whether a daily B vitamin intervention including folic acid (2...
December 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29240374/case-study-case-studies-in-cystinuria
#20
David S Goldfarb, Michael Grasso
The diagnosis and treatment of patients with rare inherited metabolic disorders associated with recurrent and often obstructive kidney stones are important to the prevention of chronic kidney disease or end stage renal disease. Two case studies in this article describe the diagnosis and management of cystinuria, the most common rare kidney stone disorder.
March 2017: Urologic Nursing
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