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Metabolic stone disease

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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
#1
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 20, 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
#2
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
#3
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
#4
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
#5
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
#6
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...
November 30, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27896392/tubular-and-genetic-disorders-associated-with-kidney-stones
#7
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...
November 28, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27882414/systemic-endothelial-function-measured-by-flow-mediated-dilation-is-impaired-in-patients-with-urolithiasis
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27823707/body-weight-and-basal-metabolic-rate-in-childhood-narcolepsy-a-longitudinal-study
#13
Zongwen Wang, Huijuan Wu, William S Stone, Jianhua Zhuang, Linli Qiu, Xing Xu, Yan Wang, Zhengqing Zhao, Fang Han, Zhongxin Zhao
OBJECTIVES: The aims of this study were to document the trajectory of weight gain and body mass index (BMI) in children with type 1 narcolepsy, and to analyze basal metabolic rate (BMR). METHODS: A total of 65 Chinese children with type 1 narcolepsy with a disease duration ≤12 months were included. In addition, 79 healthy age-matched students were enrolled as controls. Height and body weight were measured every six months for up to 36 months to calculate BMI growth...
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27813386/retroperitoneoscopic-pyelolithotomy-a-good-alternative-treatment-for-renal-pelvic-calculi-in-children
#14
Bruno Nicolino Cezarino, Rubens Park, Paulo Renato Marcelo Moscardi, Roberto Iglesias Lopes, Francisco T Denes, Miguel Srougi
INTRODUCTION: Nephrolitiasis, once considered an adult disease, has become increasingly prevalent in children, with na increase from 6% to 10 % annually in past 25 years. Kidney stones in pediatric population can result from metabolic diseases in up to 50% of children affected. Other factors associated with litiasis are infection, dietary factors, and anatomic malformations of urinary tract. Standard treatment procedures for pediatric population are similar to adult population. Extracorporeal shock wave lithotripsy (ESWL), ureterorenoscopy (URS), percutaneous nepfrolithotomy (PCNL), as well as laparoscopic and retroperitoneoscopic approaches can be indicated in selected cases...
November 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27781020/stem-cells-in-functional-bladder-engineering
#15
REVIEW
Jakub Smolar, Souzan Salemi, Maya Horst, Tullio Sulser, Daniel Eberli
Conditions impairing bladder function in children and adults, such as myelomeningocele, posterior urethral valves, bladder exstrophy or spinal cord injury, often need urinary diversion or augmentation cystoplasty as when untreated they may cause severe bladder dysfunction and kidney failure. Currently, the gold standard therapy of end-stage bladder disease refractory to conservative management is enterocystoplasty, a surgical enlargement of the bladder with intestinal tissue. Despite providing functional improvement, enterocystoplasty is associated with significant long-term complications, such as recurrent urinary tract infections, metabolic abnormalities, stone formation, and malignancies...
September 2016: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/27778049/geographic-location-is-an-important-determinant-of-risk-factors-for-stone-disease
#16
Ethan B Fram, Matthew D Sorensen, Vincent G Bird, Joshua M Stern
Some regions are known to have an increased burden of urolithiasis. Urolithiasis is known to be affected by weather patterns, particularly high ambient temperatures. To identify geographic differences in risk factors, we compared metabolic information for 1254 patients in two geographically distinct regions, New York and Florida, with per sample adjustment for ambient weather. We observed that patients in New York were more likely to have low urine volume, but also lower total urinary calcium (168 vs 216 mg, p = 0...
October 24, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27746618/polymorphisms-in-ugt1a1-gene-predispose-south-indians-to-pigmentous-gallstones
#17
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
https://www.readbyqxmd.com/read/27741152/probiotics-history
#18
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
https://www.readbyqxmd.com/read/27716746/structural-and-molecular-changes-in-the-aging-choroid-implications-for-age-related-macular-degeneration
#19
REVIEW
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
https://www.readbyqxmd.com/read/27708628/quantitative-proteomic-analysis-of-germination-of-nosema-bombycis-spores-under-extremely-alkaline-conditions
#20
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
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