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Metabolic stone disease

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https://www.readbyqxmd.com/read/29444590/-stone-trees-metabolic-evaluation-and-medical-treatment-of-the-urolithiasis-patient-made-easy
#1
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
#2
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
#3
Morad Hebi, 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
#4
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
#5
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
#6
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...
December 25, 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
#7
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 B 12 , B 6 , 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
#8
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
https://www.readbyqxmd.com/read/29202723/changes-in-urinary-risk-profile-after-short-term-low-sodium-and-low-calcium-diet-in-recurrent-swiss-kidney-stone-formers
#9
Harald Seeger, Andrea Kaelin, Pietro M Ferraro, Damian Weber, Philippe Jaeger, Patrice Ambuehl, William G Robertson, Robert Unwin, Carsten A Wagner, Nilufar Mohebbi
BACKGROUND: Kidney stone disease is common in industrialized countries. Recently, it has attracted growing attention, because of its significant association with adverse renal outcomes, including end stage renal disease. Calcium-containing kidney stones are frequent with high recurrence rates. While hypercalciuria is a well-known risk factor, restricted intake of animal protein and sodium, combined with normal dietary calcium, has been shown to be more effective in stone prevention compared with a low-calcium diet...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29196385/characteristic-and-outcome-of-psoriatic-arthritis-patients-with-hyperuricemia
#10
Roa'A AlJohani, Ari Polachek, Justine Yang Ye, Vinod Chandran, Dafna D Gladman
OBJECTIVE: To determine the characteristics of patients with psoriatic arthritis (PsA) who have hyperuricemia (HUC) and their outcomes, especially cardiovascular (CVD) and kidney diseases. METHODS: Patients have been followed prospectively at the PsA clinic according to a standard protocol at 6- to 12-month intervals. We defined HUC in men > 450 μmol/l or women > 360 μmol/l. We matched patients with HUC based on sex and age ± 5 years with normal uric acid patients...
December 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/29181209/ureteropelvic-junction-obstruction-and-parathyroid-adenoma-coincidence-or-link
#11
Salah Termos, Majd AlKabbani, Tim Ulinski, Sami Sanjad, Henri Kotobi, Francois Chalard, Bilal Aoun
Congenital ureteropelvic junction obstruction (UPJO) is the most common cause of upper urinary tract obstruction in children. It is generally diagnosed in the routine work-up during antenatal period and is characterized by spontaneous recovery. It can be associated with urolithiasis; hence further investigation should be carried out. We report the case of a 15-year-old boy, who is known to have right UPJO, presented with right renal colic and discovered to have bilateral kidney stones. Further studies showed primary hyperparathyroidism and genetic analysis revealed a CDC73 mutation (initially HRPT2)...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29156745/predictive-value-of-preoperative-inflammatory-response-biomarkers-for-metabolic-syndrome-and-post-pcnl-systemic-inflammatory-response-syndrome-in-patients-with-nephrolithiasis
#12
Kun Tang, Haoran Liu, Kehua Jiang, Tao Ye, Libin Yan, Peijun Liu, Ding Xia, Zhiqiang Chen, Hua Xu, Zhangqun Ye
Neutrophil to lymphocyte ratio (NLR), derived neutrophil to lymphocyte ratio (dNLR), platelet to lymphocyte ratio (PLR) and lymphocyte to monocyte ratio (LMR) were promising biomarkers used to predict diagnosis and prognosis in various inflammatory responses diseases and cancers. However, there have been no reports regarding these biomarkers in kidney stone patients. This study aimed to evaluate the predictive value of inflammatory biomarkers for metabolic syndrome (MetS) and post-PCNL SIRS in nephrolithiasis patients...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29124877/sporadic-primary-hyperparathyroidism-and-stone-disease-a-comprehensive-metabolic-evaluation-before-and-after-parathyroidectomy
#13
Giovanni S Marchini, Kauy V M Faria, Fábio C M Torricelli, Manoj Monga, Miguel Srougi, William C Nahas, Eduardo Mazzucchi
OBJECTIVES: to characterize the stone risk and the impact of parathyroidectomy on the metabolic profile of patients with primary hyperparathyroidism (PHPT) and urolithiasis. SUBJECTS AND METHODS: We analyzed the prospectively collected charts of patients treated at our stone clinic from Jan/2001-Jan/2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands were assessed. We analyzed the demographic data, serum and urinary parameters before and after parathyroidectomy...
November 10, 2017: BJU International
https://www.readbyqxmd.com/read/29077507/multi-ethnic-meta-analysis-identifies-rai1-as-a-possible-obstructive-sleep-apnea-related-quantitative-trait-locus-in-men
#14
Han Chen, Brian E Cade, Kevin J Gleason, Andrew C Bjonnes, Adrienne M Stilp, Tamar Sofer, Matthew P Conomos, Sonia Ancoli-Israel, Raanan Arens, Ali Azarbarzin, Graeme I Bell, Jennifer E Below, Sung Chun, Daniel S Evans, Ralf Ewert, Alexis C Frazier-Wood, Sina A Gharib, José Haba-Rubio, Erika W Hagen, Raphael Heinzer, David R Hillman, W Craig Johnson, Zoltan Kutalik, Jacqueline M Lane, Emma K Larkin, Seung Ku Lee, Jingjing Liang, Jose S Loredo, Sutapa Mukherjee, Lyle J Palmer, George J Papanicolaou, Thomas Penzel, Paul E Peppard, Wendy S Post, Alberto R Ramos, Ken Rice, Jerome I Rotter, Scott A Sands, Neomi A Shah, Chol Shin, Katie L Stone, Beate Stubbe, Jae-Hoon Sul, Mehdi Tafti, Kent D Taylor, Alexander Teumer, Timothy A Thornton, Gregory J Tranah, Chaolong Wang, Heming Wang, Simon C Warby, D Andrew Wellman, Phyllis C Zee, Craig L Hanis, Cathy C Laurie, Daniel J Gottlieb, Sanjay R Patel, Xiaofeng Zhu, Shamil R Sunyaev, Richa Saxena, Xihong Lin, Susan Redline
Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups and a large proportion of the heritability remains unexplained. The apnea hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Since OSA differs by sex, and the pathophysiology of obstructive events differ in rapid eye movement (REM) and non-REM (NREM) sleep, we hypothesized that additional genetic association signals would be identified by analyzing the NREM/REM-specific AHI and by conducting sex-specific analyses in multi-ethnic samples...
October 27, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29074093/a-new-hope-lessons-from-heart-outcomes-prevention-evaluation-3
#15
REVIEW
Travis M Howard, Aakash A Bavishi, Neil J Stone
Lifestyle modification is the cornerstone of preventing atherosclerotic cardiovascular disease. When this is not sufficient in reducing risk, statin therapy is first line. Heart Outcomes Prevention Evaluation (HOPE-3) was a randomized controlled trial of rosuvastatin versus placebo, which demonstrated a significant net benefit in a lower-risk population without known atherosclerotic cardiovascular disease. There were many novel characteristics about this trial that should not be overlooked. It contained a diverse population and was the first trial to base inclusion solely on easily ascertainable metabolic risk factors...
October 23, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/29061541/personalized-intervention-in-monogenic-stone-formers
#16
REVIEW
Lucas J Policastro, Subodh J Saggi, David S Goldfarb, Jeffrey P Weiss
PURPOSE: The treatment of a first-time renal stone episode consists of acute management followed by medical efforts to prevent stone recurrence. Though nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment, as most stone disease is regarded as polygenic, i.e. not attributable to a single gene. Recently, new evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than expected. This intriguing possibility holds the potential to change the management paradigm in stone prevention from metabolically-directed therapy to more specific approaches informed by genetic screening and testing...
October 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/29054721/characterizing-the-association-between-toll-like-receptor-subtypes-and-nephrolithiasis-with-renal-inflammation-in-an-animal-model
#17
Mahmut Taha Olcucu, Kerem Teke, Serdar Yalcin, Erkan Olcucuoglu, Vildan Caner, Nilay Sen Turk, Omer Levent Tuncay
OBJECTIVE: To show experimentally induced renal stone disease and to evaluate secondary inflammatory responses in vivo, and to characterize changes in the expression of Toll-like receptor (TLR) subtypes in this model. METHODS: Twenty 5- to 6-week-old male Wistar rats were divided into control and hyperoxaluria groups (n = 10 per group) and were supplied with normal water or 1% ethylene glycol, respectively, for 16 weeks. The animals were then placed in metabolic cages, and urine was collected for a 24-hour urine oxalate level evaluation...
January 2018: Urology
https://www.readbyqxmd.com/read/29054323/human-kidney-stone-matrix-latent-potential-to-restrain-com-induced-cytotoxicity-and-inflammatory-response
#18
Shifa Narula, Simran Tandon, Prakash Baligar, Shrawan Kumar Singh, Chanderdeep Tandon
Kidney stone disease is a multi-factorial disorder resulting from the interplay of various risk factors including lifestyle, environment and genetics along with metabolic activities inside the body. However, it is difficult to determine how these factors converge to promote stone disease. Extensive investigations of kidney stone composition at the molecular level have been carried out however; its impact on the complex mechanism of stone formation is still obscure. Hence, an in vitro study was designed to investigate the attenuation of calcium oxalate toxicity by human kidney stone matrix proteins on NRK-52E cells using flowcytometry, Western blotting, RT-PCR and immunofluorescence assays...
October 18, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/29042494/insights-from-the-genome-sequence-of-mycobacterium-lepraemurium-massive-gene-decay-and-reductive-evolution
#19
Andrej Benjak, Tanvi P Honap, Charlotte Avanzi, Enrique Becerril-Villanueva, Iris Estrada-García, Oscar Rojas-Espinosa, Anne C Stone, Stewart T Cole
Mycobacterium lepraemurium is the causative agent of murine leprosy, a chronic, granulomatous disease similar to human leprosy. Due to the similar clinical manifestations of human and murine leprosy and the difficulty of growing both bacilli axenically, Mycobacterium leprae and M. lepraemurium were once thought to be closely related, although it was later suggested that M. lepraemurium might be related to Mycobacterium avium In this study, the complete genome of M. lepraemurium was sequenced using a combination of PacBio and Illumina sequencing...
October 17, 2017: MBio
https://www.readbyqxmd.com/read/29038354/association-of-urinary-citrate-excretion-ph-and-net-gastrointestinal-alkali-absorption-with-diet-diuretic-use-and-blood-glucose-concentration
#20
Majuran Perinpam, Erin B Ware, Jennifer A Smith, Stephen T Turner, Sharon L R Kardia, John C Lieske
Urinary citrate (Ucit) protects against urinary stone formation. Acid base status and diet influence Ucit. However, the effect of demographics, diet, and glucose metabolism on Ucit excretion, urinary pH (U-pH) and net gastrointestinal alkali absorption (NAA) are not known. Twenty-four hour urine samples, blood glucose, creatinine, and cystatin C were obtained from non-Hispanic white sibships in Rochester, MN (n = 446; 64.5 ± 9 years; 58% female). Diet was assessed by a food frequency questionnaire. The impact of blood glucose, demographics and dietary elements on Ucit excretion, U-pH, and NAA were evaluated in bivariate and multivariable models and interaction models that included age, sex, and weight...
October 2017: Physiological Reports
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