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Genetic kidney disease

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https://www.readbyqxmd.com/read/28449322/a-bacterium-with-close-genetic-identity-to-pseudomonas-mandelii-associated-with-spring-fish-kills-in-wild-bluegill-lepomis-macrochirus-rafinesque-and-pumpkinseed-sunfish-lepomis-gibbosus-linnaeus
#1
J Lovy, D Dicarlo-Emery, J M Hutcheson
Pseudomonas fluorescens are known bacterial pathogens in fish. The P. fluorescens group contains at least nine different bacterial species, although species from fish have rarely been differentiated. Two isolated fish kills affecting wild bluegills, Lepomis macrochirus Rafinesque, and pumpkinseed sunfish, Lepomis gibbosus (Linnaeus), occurred in the spring of 2015 during cool water temperatures (12.5°C-15.5°C). Disease signs included severe bacteraemia with rare gross external signs. Pure bacterial cultures isolated from kidneys of all affected fish were identified as P...
April 27, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28443391/atazanavir-sulfate-cobicistat-for-the-treatment-of-hiv-infection
#2
Francisco Antunes
The life expectancy of patients living with HIV has increased significantly in the last two decades, as a result of the great progress in treatment of HIV infection. During this time, several drugs were developed to offer long-term benefits in terms of virologic efficacy, favourable tolerability and toxicity profiles. Pharmacokinetic boosting of protease inhibitors allows a higher genetic barrier, as few or no drug-resistant mutations are detected in patients with virologic failure. Areas covered: Atazanavir sulfate + cobicistat (ATV/c) was recently approved in the United States of America and in the European Union for the treatment of HIV-1 infection...
April 26, 2017: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/28442418/tlr22-structure-and-expression-characteristic-of-barbel-chub-squaliobarbus-curriculus-provides-insights-into-antiviral-immunity-against-infection-with-grass-carp-reovirus
#3
Rong-Hua Wang, Wei Li, Yu-Ding Fan, Qiao-Lin Liu, Ling-Bing Zeng, Tiao-Yi Xiao
Grass carp reovirus (GCRV) is the most virulent agent to Grass carp, Ctenopharyngodon idella, and causes a severe infectious disease called hemorrhagic disease of grass carp. Generally, barbel chub, Squaliobarbus curriculus, a genetically closely related species to grass carp, exhibits significant resistance against GCRV infection compared to grass carp. To investigate whether the Toll-like receptor 22 (tlr22) has got a vital role against the GCRV infection, the full cDNA sequence of tlr22 from barbel chub (Sctlr22) was cloned by RACE-PCR, and the structure and expression feature were studied...
April 22, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28440247/circulating-biomarkers-in-glaucoma-age-related-macular-degeneration-and-diabetic-retinopathy
#4
Madhu Nath, Nabanita Halder, Thirumurthy Velpandian
Biomarkers to predict the altering physiological conditions over the period leading toward the ocular disorders are of major importance in therapeutics. Isolation and validation of the biomarkers specific to ocular diseases are a challenging task. Glaucoma is a neurodegenerative disease of the eye where the correlation of biomarkers in circulating fluid may be made specific for the eye. However, conditions such as wet age-related macular degeneration (AMD) and proliferative diabetic retinopathy (DR), circulating biomarkers might be having some degree of overlap with other conditions like cancer where a common factor such as angiogenesis is involved...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28435134/association-of-calcitonin-receptor-gene-calcr-polymorphism-with-kidney-stone-disease-in-the-population-of-west-bengal-india
#5
Pubali Mitra, Manalee Guha, Sudakshina Ghosh, Sourav Mukherjee, Biswabandhu Bankura, Dilip Kumar Pal, Biswanath Maity, Madhusudan Das
Kidney Stone Disease (KSD) is a complex urologic disorder with strong genetic constituent. Earlier association studies have indicated that the genetic polymorphisms are the potential cause of stone materialization; however unfortunately, the actual genetic signature is still unknown. Therefore, present study was aimed to investigate the potential contribution of two important polymorphisms of calcitonin receptor gene (CALCR): (i) rs1801197 (Leu447Pro) and (ii) rs1042138 (3'UTR+18C>T) in renal stone formation...
April 20, 2017: Gene
https://www.readbyqxmd.com/read/28434650/global-kidney-health-2017-and-beyond-a-roadmap-for-closing-gaps-in-care-research-and-policy
#6
REVIEW
Adeera Levin, Marcello Tonelli, Joseph Bonventre, Josef Coresh, Jo-Ann Donner, Agnes B Fogo, Caroline S Fox, Ron T Gansevoort, Hiddo J L Heerspink, Meg Jardine, Bertram Kasiske, Anna Köttgen, Matthias Kretzler, Andrew S Levey, Valerie A Luyckx, Ravindra Mehta, Orson Moe, Gregorio Obrador, Neesh Pannu, Chirag R Parikh, Vlado Perkovic, Carol Pollock, Peter Stenvinkel, Katherine R Tuttle, David C Wheeler, Kai-Uwe Eckardt
The global nephrology community recognises the need for a cohesive plan to address the problem of chronic kidney disease (CKD). In July, 2016, the International Society of Nephrology hosted a CKD summit of more than 85 people with diverse expertise and professional backgrounds from around the globe. The purpose was to identify and prioritise key activities for the next 5-10 years in the domains of clinical care, research, and advocacy and to create an action plan and performance framework based on ten themes: strengthen CKD surveillance; tackle major risk factors for CKD; reduce acute kidney injury-a special risk factor for CKD; enhance understanding of the genetic causes of CKD; establish better diagnostic methods in CKD; improve understanding of the natural course of CKD; assess and implement established treatment options in patients with CKD; improve management of symptoms and complications of CKD; develop novel therapeutic interventions to slow CKD progression and reduce CKD complications; and increase the quantity and quality of clinical trials in CKD...
April 20, 2017: Lancet
https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#7
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28428174/klotho-an-anti-aging-molecule-attenuates-oxidant-induced-alveolar-epithelial-cell-mtdna-damage-and-apoptosis
#8
Seok-Jo Kim, Paul Cheresh, Mesut Eren, Renea P Jablonski, Anjana Yeldandi, Karen M Ridge, Gr Scott Budinger, Dong-Hyun Kim, Myles S Wolf, Douglas Vaughan, David W Kamp
Alveolar epithelial cell (AEC) apoptosis and inadequate repair resulting from 'exaggerated' lung aging and mitochondrial dysfunction are critical determinants promoting lung fibrosis. α-Klotho, which is an anti-aging molecule that is expressed predominantly in the kidney and secreted in the blood, can protect lung epithelial cells against hyperoxia-induced apoptosis. We reasoned that Klotho protects AEC exposed to oxidative stress in part by maintaining mitochondrial DNA (mtDNA) integrity and mitigating apoptosis...
April 20, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28424482/logistic-bayesian-lasso-for-genetic-association-analysis-of-data-from-complex-sampling-designs
#9
Yuan Zhang, Jonathan N Hofmann, Mark P Purdue, Shili Lin, Swati Biswas
Detecting gene-environment interactions with rare variants is critical in dissecting the etiology of common diseases. Interactions with rare haplotype variants (rHTVs) are of particular interest. At the same time, complex sampling designs, such as stratified random sampling, are becoming increasingly popular for designing case-control studies, especially for recruiting controls. The US Kidney Cancer Study (KCS) is an example, wherein all available cases were included while the controls at each site were randomly selected from the population by frequency matching with cases based on age, sex and race...
April 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28418009/effect-of-umod-genotype-on-long-term-graft-survival-after-kidney-transplantation-in-patients-treated-with-cyclosporine-based-therapy
#10
E Abdel-Hady Algharably, J Beige, R Kreutz, J Bolbrinker
The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. Hypertension and nephrotoxicity are adverse effects of chronic cyclosporine treatment. We tested whether UMOD rs12917707-T in donor kidneys associates with long-term graft survival in 393 Caucasian patients with stable graft function for more than 10 weeks after kidney transplantation treated with a cyclosporine-based maintenance therapy (mean graft survival 9 years)...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28416732/prevalence-of-kidney-stones-and-associated-risk-factors-in-the-shunyi-district-of-beijing
#11
Y G Jiang, L H He, G T Luo, X D Zhang
INTRODUCTION: Kidney stone formation is a multifactorial condition that involves interaction of environmental and genetic factors. Presence of kidney stones is strongly related to other diseases, which may result in a heavy economic and social burden. Clinical data on the prevalence and influencing factors in kidney stone disease in the north of China are scarce. In this study, we explored the prevalence of kidney stone and potentially associated risk factors in the Shunyi District of Beijing, China...
April 18, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28416198/engineering-human-renal-epithelial-cells-for-transplantation-in-regenerative-medicine
#12
Vita Manzoli, David C Colter, Sridevi Dhanaraj, Alessia Fornoni, Camillo Ricordi, Antonello Pileggi, Alice A Tomei
Cellular transplantation may treat several human diseases by replacing damaged cells and/or providing a local source of trophic factors promoting regeneration. We utilized human renal epithelial cells (hRECs) isolated from cadaveric donors as a cell model. For efficacious implementation of hRECs for treatment of kidney diseases, we evaluated a novel encapsulation strategy for immunoisolation of hRECs and lentiviral transduction of the Green Fluorescent Protein (GFP) as model gene for genetic engineering of hRECs to secrete desired trophic factors...
April 13, 2017: Medical Engineering & Physics
https://www.readbyqxmd.com/read/28410202/identification-of-c21orf59-and-atg2a-as-novel-determinants-of-renal-function-related-traits-in-japanese-by-exome-wide-association-studies
#13
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We have performed exome-wide association studies to identify genetic variants that influence renal function-related traits or confer susceptibility to chronic kidney disease or hyperuricemia in Japanese. Exome-wide association studies for estimated glomerular filtration rate and the serum concentration of creatinine were performed with 12,565 individuals, that for the serum concentration of uric acid with 9934 individuals, and those for chronic kidney disease or hyperuricemia with 5161 individuals (3270 cases, 1891 controls) or 11,686 individuals (2045 cases, 9641 controls), respectively...
March 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#14
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409342/zebrafish-as-a-model-of-kidney-disease
#15
Elvin E Morales, Rebecca A Wingert
Animal models have been an invaluable means to advance biomedical research as they provide experimental avenues for cellular and molecular investigations of disease pathology. The zebrafish (Danio rerio) is a good alternative to mammalian models that can be used to apply powerful genetic experimental methods normally used in invertebrates to answer questions about vertebrate development and disease. In the case of the kidney, the zebrafish has proven itself to be an applicable and versatile experimental system, mainly due to the simplicity of its pronephros, which contains two nephrons that possess conserved structural and physiological aspects with mammalian nephrons...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28407885/the-sweetest-thing-blocking-fructose-metabolism-to-prevent-acute-kidney-injury
#16
Christina M Wyatt, W Brian Reeves
Fructose consumption has been linked to hypertension in animal models and human studies, and endogenous fructose metabolism has been shown to promote acute and chronic kidney injury in mice. A recent study published in Nature Communications demonstrates a reduction in ischemic acute kidney injury with genetic knockout or inhibition of fructokinase, which catalyzes the first step in fructose metabolism. Although the role of this pathway in human kidney disease remains unclear, the recent description of several candidate fructokinase inhibitors may allow for clinical studies in the future...
May 2017: Kidney International
https://www.readbyqxmd.com/read/28407796/prevalence-of-methicillin-resistant-staphylococcus-aureus-mrsa-infection-and-the-molecular-characteristics-of-mrsa-bacteraemia-over-a-two-year-period-in-a-tertiary-teaching-hospital-in-malaysia
#17
Pik San Sit, Cindy Shuan Ju Teh, Nuryana Idris, I-Ching Sam, Sharifah Faridah Syed Omar, Helmi Sulaiman, Kwai Lin Thong, Adeeba Kamarulzaman, Sasheela Ponnampalavanar
BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is an established pathogen that causes hospital- and community-acquired infections worldwide. The prevalence rate of MRSA infections were reported to be the highest in Asia. As there is limited epidemiological study being done in Malaysia, this study aimed to determine the prevalence of MRSA infection and the molecular characteristics of MRSA bacteraemia. METHODS: Two hundred and nine MRSA strains from year 2011 to 2012 were collected from a tertiary teaching hospital in Malaysia...
April 13, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28406902/bicaudal-c-mutation-causes-myc-and-tor-pathway-up-regulation-and-polycystic-kidney-disease-like-phenotypes-in-drosophila
#18
Chiara Gamberi, David R Hipfner, Marie Trudel, William D Lubell
Progressive cystic kidney degeneration underlies diverse renal diseases, including the most common cause of kidney failure, autosomal dominant Polycystic Kidney Disease (PKD). Genetic analyses of patients and animal models have identified several key drivers of this disease. The precise molecular and cellular changes underlying cystogenesis remain, however, elusive. Drosophila mutants lacking the translational regulator Bicaudal C (BicC, the fly ortholog of vertebrate BICC1 implicated in renal cystogenesis) exhibited progressive cystic degeneration of the renal tubules (so called "Malpighian" tubules) and reduced renal function...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28404664/new-insights-into-podocyte-biology-in-glomerular-health-and-disease
#19
Suheir Assady, Nicola Wanner, Karl L Skorecki, Tobias B Huber
Podocyte and glomerular research is center stage for the development of improved preventive and therapeutic strategies for chronic progressive kidney diseases. Held April 3-6, 2016, the 11th International Podocyte Conference took place in Haifa and Jerusalem, Israel, where participants from all over the world presented their work on new developments in podocyte research. In this review, we briefly highlight the advances made in characterizing the mechanisms involved in podocyte development, metabolism, acquired injury, and repair, including progress in determining the roles of genetic variants and microRNA in particular, as well as the advances made in diagnostic techniques and therapeutics...
April 12, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28402487/circulating-klotho-associates-with-cardiovascular-morbidity-and-mortality-during-hemodialysis
#20
Christophe Marçais, Delphine Maucort-Boulch, Jocelyne Drai, Emmanuelle Dantony, Marie-Christine Carlier, Emilie Blond, Leslie Genet, François Kuentz, Dominique Lataillade, Eric Legrand, Xavier Moreau-Gaudry, Guillaume Jean, Denis Fouque
Background: Klotho gene was identified as an aging suppressor. In animals klotho over-expression extends lifespan and defective klotho results in rapid aging and early death. The kidney is the main contributor to circulating klotho levels and during chronic kidney disease, renal klotho gene expression is drastically reduced in animals and humans as well. Objective: We aimed to determine the consequences of a serum klotho defect on cardiovascular morbidity and mortality during chronic dialysis...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
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