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Metabolic stone disease

Vishnubhotla Venkata Ravikanth, Guduru Venkat Rao, Bale Govardhan, Mitnala Sasikala, Chivukula Subramanyam, H V Vivekananda Murthy, Siddapuram Siva Prasad, G Deepika, Rebala Pradeep, Duvvuru Nageshwar Reddy
BACKGROUND/OBJECTIVES: Pigmentous gallstones occur in South Indians despite significant higher levels of circulating cholesterol. This study was conducted to identify the biochemical and/or genetic causes for the formation of pigmentous gallstones in this ethnic group. METHODS: Plasma lipid profile, bile cholesterol, acids, and phospholipid levels were estimated in patients with gall stone disease and age, sex matched controls using standard protocols. Twenty-seven SNPs related to cholesterol and bilirubin metabolism pathway genes were genotyped in the study population using the Sequenom platform...
September 2016: Journal of Clinical and Experimental Hepatology
Giovanni Gasbarrini, Fiorenza Bonvicini, Annagiulia Gramenzi
Gut microbiota promotes healthy effects on the host and prevents diseases. Probiotic (probios, for life) are defined as "live microorganisms which when administered in adequate amounts confer a health benefit on the host." At the beginning of 1900s Louis Pasteur identified the microorganisms responsible for the process of fermentation, whereas E. Metchnikoff associated the enhanced longevity of Bulgarian rural people to the regular consumption of fermented dairy products such as yogurt. He suggested that lactobacilli might counteract the putrefactive effects of gastrointestinal metabolism that contributed to illness and aging...
November 2016: Journal of Clinical Gastroenterology
K R Chirco, E H Sohn, E M Stone, B A Tucker, R F Mullins
Age-related macular degeneration (AMD) is a devastating disease-causing vision loss in millions of people around the world. In advanced stages of disease, death of photoreceptor cells, retinal pigment epithelial cells, and choroidal endothelial cells (CECs) are common. Loss of endothelial cells of the choriocapillaris is one of the earliest detectable events in AMD, and, because the outer retina relies on the choriocapillaris for metabolic support, this loss may be the trigger for progression to more advanced stages...
October 7, 2016: Eye
Han Liu, Bosheng Chen, Sirui Hu, Xili Liang, Xingmeng Lu, Yongqi Shao
The microsporidian Nosema bombycis is an obligate intracellular pathogen of the silkworm Bombyx mori, causing the epidemic disease Pebrine and extensive economic losses in sericulture. Although N. bombycis forms spores with rigid spore walls that protect against various environmental pressures, ingested spores germinate immediately under the extremely alkaline host gut condition (Lepidoptera gut pH > 10.5), which is a key developmental turning point from dormant state to infected state. However, to date this process remains poorly understood due to the complexity of the animal digestive tract and the lack of genetic tools for microsporidia...
2016: Frontiers in Microbiology
Jian Guo Wen, Xin Jian Liu, Zhi Min Wang, Tian Fang Li, Mark L Wahlqvist
The melamine contaminated milk powder contamination scandal occurred in China in 2008. Its main consequences so far have been urinary stone formation in children with associated renal damage and increased child mortality. Eight years have passed, but food safety issues still remain of concern in the daily lives of millions of Chinese. Vigilance is required to ensure no recurrence of such food safety problems. Ongoing studies focus on the early detection of food industry malpractice, mechanisms whereby these toxic substances induce disease and how its advent may be prevented and better managed...
December 2016: Asia Pacific Journal of Clinical Nutrition
Sandeep Aggarwal, Randy D Moore, Ross Arena, Brenda Marra, Amanda McBride, Brea Lamb, Billie-Jean Martin, James Stone
Peripheral arterial disease (PAD) is the result of atherosclerosis in the lower limb arteries, which can give rise to intermittent claudication (IC), limb ulceration, infections, and, in some circumstances, amputation. As a result of PAD, patients are frequently limited in both walking duration and speed. These ambulatory deficits impact both functional capacity and quality of life. The prevalence of PAD is increasing, and patients with this diagnosis have high cardiovascular morbidity and mortality. A comprehensive approach is required to improve outcomes in patients with PAD and include tobacco cessation, pharmacologic management of metabolic fitness, risk-factor modification, and exercise training...
October 2016: Canadian Journal of Cardiology
Xingsheng Li, Melissa L Ellis, Alexander E Dowell, Ranjit Kumar, Casey D Morrow, Trenton R Schoeb, John Knight
: Colonization with Oxalobacter formigenes may reduce the risk of calcium oxalate kidney stone disease. To improve our limited understanding of host/O.formigenes and microbe/O.formigenes interactions, germ-free or altered Schaedler flora (ASF) mice were colonized with O.formigenes Germ-free mice were stably colonized with O.formigenes suggesting O.formigenes does not require other organisms to sustain its survival. Examination of intestinal material indicated no viable O.formigenes in the small intestine, ∼4 × 10(6) O...
September 23, 2016: Applied and Environmental Microbiology
Kleiton G R Yamaçake, Giovanni S Marchini, Sabrina Reis, Alexandre Danilovic, Fábio C Vicentini, Fábio C M Torricelli, Miguel Srougi, Eduardo Mazzucchi
PURPOSE: To compare the clinical, metabolic, and calculi characteristics of cystine and struvite stone patients after percutaneous nephrolithotripsy (PCNL). MATERIAL AND METHODS: Between January/2006-July/2013, 11 cystine stone patients were treated in our clinic. Of those, 3 were excluded due to incomplete follow-up. Eight cystine stone patients (2 with bilateral disease; 10 renal units-RU) were considered for further analysis. A cohort of 8 struvite stone formers (10RU) was matched having the same age, gender, body mass index (BMI) and Guys stone score...
September 1, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Patricia Funes, Gloria Echagüe, Irene Ruiz, Lourdes Rivas, Jorge Zenteno, Rosa Guillén
UNLABELLED: The lithogenic risk profile is a graphical representation of metabolic factors and urinary saturation involved in the stone formation with their respective critical values. AIM: To determine the lithogenic risk profile in patients with urolithiasis. MATERIAL AND METHODS: Personal data such as anthropometric, history of diseases and family history of urolithiasis were recorded. Different compounds acting as promoters or inhibitors of crystallization were measured in serum and urine samples, and the data obtained were used to calculate urinary saturation using Equil software...
June 2016: Revista Médica de Chile
Tracy A Stone, Charles M Deber
Membrane proteins play the central roles in a variety of cellular processes, ranging from nutrient uptake and signalling, to cell-cell communication. Their biological functions are directly related to how they fold and assemble; defects often lead to disease. Protein-protein interactions (PPIs) within the membrane are therefore of great interest as therapeutic targets. Here we review the progress in the application of membrane-insertable peptides for the disruption or stabilization of membrane-based PPIs. We describe the design and preparation of transmembrane peptide mimics; and of several categories of peptidomimetics used for study, including d-enantiomers, non-natural amino acids, peptoids, and β-peptides...
August 28, 2016: Biochimica et Biophysica Acta
Jung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, Natalie S Hauser, Rebecca L Belmonte, Gregory R Wilson, Daniëlle G M Bosch, Paula A Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K Stone, Eun Young Park, Joris A Veltman, Margje Sinnema, Connie T R M Stumpel, Jos M Draaisma, Joost Nicolai, Helger G Yntema, Kristin Lindstrom, Bert B A de Vries, Tamison Jewett, Stephanie L Santoro, Julie Vogt, Kristine K Bachman, Andrea H Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M Strom, Dagmar Wieczorek, Nuria Bramswig, Franco A Laccone, Jana Behunova, Helga Rehder, Christopher T Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El-Khechen, Megan T Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P A Stegmann, Servi J C Stevens, Dong-Er Zhang, David Traver, Xu Yao, Daniel G MacArthur, Han G Brunner, Grazia M Mancini, Richard M Myers, Laurie B Owen, Ssang-Taek Lim, David L Stachura, Lisenka E L M Vissers, Eun-Young Erin Ahn
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations...
September 1, 2016: American Journal of Human Genetics
Takahiro Yasui, Atsushi Okada, Shuzo Hamamoto, Ryosuke Ando, Kazumi Taguchi, Keiichi Tozawa, Kenjiro Kohri
Urolithiasis, a complex multifactorial disease, results from interactions between environmental and genetic factors. Epidemiological studies have shown the association of urolithiasis with a number of lifestyle-related diseases, including cardiovascular diseases, hypertension, chronic kidney disease, diabetes and metabolic syndrome. Elucidation of the mechanisms underlying urinary stone formation will enable development of new preventive treatments. The present article reviews the epidemiology, pathophysiology and potential treatment of urolithiasis...
August 18, 2016: International Journal of Urology: Official Journal of the Japanese Urological Association
Robert Schwarcz, Trevor W Stone
Research on the neurobiology of the kynurenine pathway has suffered years of relative obscurity because tryptophan degradation, and its involvement in both physiology and major brain diseases, was viewed almost exclusively through the lens of the well-established metabolite serotonin. With increasing recognition that kynurenine and its metabolites can affect and even control a variety of classic neurotransmitter systems directly and indirectly, interest is expanding rapidly. Moreover, kynurenine pathway metabolism itself is modulated in conditions such as infection and stress, which are known to induce major changes in well-being and behaviour, so that kynurenines may be instrumental in the etiology of psychiatric and neurological disorders...
August 7, 2016: Neuropharmacology
Patricia Vassallo, Steven L Driver, Neil J Stone
Metabolic syndrome (MetS), a clustering of metabolic risk factors, identifies individuals at increased risk of diabetes and cardiovascular disease (CVD). Measurement of waist circumference, high-density lipoprotein-cholesterol, triglycerides, blood pressure and fasting blood glucose are easily obtained in the clinic. At any level of low-density lipoprotein-cholesterol, presence of MetS increases the risk of adverse CVD outcomes including bothatherosclerotic CVD and atrial fibrillation. The MetS construct should focus the clinician on recommending behavioral lifestyle modification as this improves all of its components...
September 2016: Progress in Cardiovascular Diseases
Piero Portincasa, Agostino Di Ciaula, Ignazio Grattagliano
Gallstone formation is the result of a complex interaction between genetic and nongenetic factors. We searched and reviewed the available literature to define how the primary prevention of gallstones (cholesterol gallstones in particular) could be applied in general practice. Electronic bibliographical databases were searched. Prospective and retrospective cohort studies and case-controlled studies were analyzed and graded for evidence quality. The epidemiological data confirmed that genetic factors are estimated to account for only approximately 25% of the overall risk of gallstones, while metabolic/environmental factors are at least partially modifiable in stone-free risk groups, and are thus modifiable by primary prevention measures related to diet, lifestyle, and environmental factors (i...
July 2016: Korean Journal of Family Medicine
Giovanni Gambaro, Emanuele Croppi, Fredric Coe, James Lingeman, Orson Moe, Elen Worcester, Noor Buchholz, David Bushinsky, Gary C Curhan, Pietro Manuel Ferraro, Daniel Fuster, David S Goldfarb, Ita Pfeferman Heilberg, Bernard Hess, John Lieske, Martino Marangella, Dawn Milliner, Glen M Preminger, Jose' Manuel Reis Santos, Khashayar Sakhaee, Kemal Sarica, Roswitha Siener, Pasquale Strazzullo, James C Williams
BACKGROUND: Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research. DESIGN: A steering committee identified 27 questions, which were proposed to a faculty of 44 experts in nephrolithiasis and allied fields. A systematic review of the literature was conducted and 5216 potentially relevant articles were selected; from these, 407 articles were deemed to provide useful scientific information...
July 25, 2016: Journal of Nephrology
Smiley Annie George, Sulaiman Al-Rushaidan, Issam Francis, Darius Soonowala, M R Narayanan Nampoory
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder of uric acid metabolism that leads to formation and excretion of 2,8-dihydroxyadenine into urine. The low solubility of 2,8-dihydroxyadenine results in precipitation and formation of urinary crystals and renal stones. Patients with this disorder usually have recurrent nephrolithiasis and can develop nephropathy secondary to crystal precipitation in the renal parenchyma. The disease is most often underdiagnosed and can recur in renal transplant, causing graft failure...
July 22, 2016: Experimental and Clinical Transplantation
Hassan Bouzidi, Ali Majdoub, Michel Daudon, Mohamed Fadhel Najjar
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. PH type 2 is due to the deficiency of the glyoxylate reductase/hydroxypyruvate réductase, present in the cytosol of hepatocytes and leucocytes...
June 29, 2016: Néphrologie & Thérapeutique
Martino Marangella
Nephrolithiasis (NL) is one of the most prevalent nontransmissible diseases in western countries. It is being associated with other frequent diseases, including osteoporosis, cardiovascular disease, hypertension, diabetes mellitus, through a putative common link with metabolic syndrome and insulin resistance or altered mineral metabolism. This review will focus on classification, physicochemical basis, risk factors, laboratory and imaging investigations, medical management.Classification as to stone composition includes calcium, uric acid (UA), cystine (Cys), infected, 2-8 dihydroxyadenine and rare NL...
September 26, 2016: Urologia
Andy W Yang, Justin D Johnson, Carolyn M Fronczak, Chad A LaGrange
BACKGROUND: Urolithiasis affects an estimated 5% of the population and the lifetime risk of passing a stone in the urinary tract is estimated to be 8-10%. Urinary calculus formation is highly variable and while certain risk factors such as age, gender, seasonality, anatomic abnormality, and metabolic diseases have been identified, not much is known regarding the association of environmental factors such as lunar phases on renal colic. We conducted a retrospective study to test the hypothesis that full moon phase is an environmental factor associated for increased emergency department (ED) visits for renal colic due to ureteral calculus...
2016: PloS One
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