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Polycystic kidney disease

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https://www.readbyqxmd.com/read/28444218/current-dilemmas-in-defining-the-boundaries-of-disease
#1
Jenny Doust, Mary Jean Walker, Wendy A Rogers
Boorse's biostatistical theory states that diseases should be defined in ways that reflect disturbances of biological function and that are objective and value free. We use three examples from contemporary medicine that demonstrate the complex issues that arise when defining the boundaries of disease: polycystic ovary syndrome, chronic kidney disease, and myocardial infarction. We argue that the biostatistical theory fails to provide sufficient guidance on where the boundaries of disease should be drawn, contains ambiguities relating to choice of reference class, and is out of step with medical processes for identifying disease boundaries...
April 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28438856/tailoring-the-perfect-fit-for-renal-transplant-recipients-with-end-stage-polycystic-kidney-disease-indications-and-timing-of-native-nephrectomy
#2
REVIEW
Chrysoula Argyrou, Demetrios Moris, Spyridon Vernadakis
BACKGROUND: The ideal timing of native nephrectomy in relation to kidney transplantation in patients with autosomal-dominant polycystic kidney disease (ADPKD) can be a very puzzling decision for transplant surgeons and remains a matter of debate. This review article aims to present current literature regarding this highly controversial issue. MATERIALS AND METHODS: The MEDLINE/PubMed database was searched using "polycystic kidney disease", "renal/kidney transplantation" and "native nephrectomy" as key words...
May 2017: In Vivo
https://www.readbyqxmd.com/read/28437620/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-cardiovascular-disease
#3
Paul S Jellinger, Yehuda Handelsman, Paul D Rosenblit, Zachary T Bloomgarden, Vivian A Fonseca, Alan J Garber, George Grunberger, Chris K Guerin, David S H Bell, Jeffrey I Mechanick, Rachel Pessah-Pollack, Kathleen Wyne, Donald Smith, Eliot A Brinton, Sergio Fazio, Michael Davidson
OBJECTIVE: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). METHODS: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols...
April 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28435156/polycystic-kidney-disease-pmm2-mutation-causes-pkd-and-hyperinsulinism
#4
Ellen F Carney
No abstract text is available yet for this article.
April 24, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28432464/insights-into-autosomal-dominant-polycystic-kidney-disease-by-quantitative-mass-spectrometry-based-proteomics
#5
REVIEW
Britta Diedrich, Jörn Dengjel
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenetic disorder that is caused by mutations in the genes PKD1 and PKD2 encoding polycystin-1 and polycystin-2, respectively. Polycystin-1 and -2 form a complex, interact with several proteins involved in signal transduction and localize to discrete subcellular positions, most importantly the primary cilium. Whereas the causative mutations leading to ADPKD are known, the underlying deregulated cellular pathways are not well understood. In the current review, we introduce state-of-the-art mass spectrometry (MS)-based proteomic techniques and summarize their use in kidney and ADPKD research...
April 21, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28419717/ligand-recognition-properties-of-the-vasopressin-v2-receptor-studied-under-qsar-and-molecular-modeling-strategies
#6
Marlet Martínez-Archundia, Brenda Colín-Astudillo, L M Moreno-Vargas, G Ramírez-Galicia, R Garduño-Juárez, O Deeb, Martha C Contreras-Romo, A Quintanar-Stephano, Edgar Abarca-Rojano, José Correa-Basurto
The design of new drugs that target vasopressin 2 receptor (V2R) is of vital importance to develop new therapeutic alternatives to treat diseases such as heart failure, polycystic kidney disease, etc. To get structural insights related to V2R-ligand recognition, we have used a combined approach of docking, molecular dynamics simulations (MD) and quantitative structure-activity relationship (QSAR) to elucidate the detailed interaction of the V2R with 119 of its antagonists. The three-dimensional model of V2R was built by threading methods refining its structure through MD simulations upon which the 119 ligands were subjected to docking studies...
April 17, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28418891/risk-of-aortic-aneurysm-and-dissection-in-patients-with-autosomal-dominant-polycystic-kidney-disease-a-nationwide-population-based-cohort-study
#7
Pei-Hsun Sung, Yao-Hsu Yang, Hsin-Ju Chiang, John Y Chiang, Chi-Jen Chen, Chien-Ting Liu, Cheuk-Man Yu, Hon-Kan Yip
Although cardiovascular complications are the most common cause of death in patients with autosomal-dominant polycystic kidney disease (ADPKD), the incidence and risk of aortic aneurysm and dissection (AAD) in ADPKD remains unclear due to limited data and insufficient cases. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to do a population-based cohort study (1997-2008). After excluding those patients with age <18 years old and initially concomitant diagnoses of end-stage renal disease and AAD, a total of 2076 ADPKD patients were selected from 1,000,000 of general population...
March 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416225/b-type-natriuretic-peptide-overexpression-ameliorates-hepatorenal-fibrocystic-disease-in%C3%A2-a%C3%A2-rat%C3%A2-model-of-polycystic-kidney-disease
#8
Sara J Holditch, Claire A Schreiber, Peter C Harris, Nicholas F LaRusso, Marina Ramirez-Alvarado, Alessandro Cataliotti, Vicente E Torres, Yasuhiro Ikeda
Polycystic kidney disease (PKD) involves progressive hepatorenal cyst expansion and fibrosis, frequently leading to end-stage renal disease. Increased vasopressin and cAMP signaling, dysregulated calcium homeostasis, and hypertension play major roles in PKD progression. The guanylyl cyclase A agonist, B-type natriuretic peptide (BNP), stimulates cGMP and shows anti-fibrotic, anti-hypertensive, and vasopressin-suppressive effects, potentially counteracting PKD pathogenesis. Here, we assessed the impacts of guanylyl cyclase A activation on PKD progression in a rat model of PKD...
April 14, 2017: Kidney International
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#9
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/28409350/primary-cilia-in-cystic-kidney-disease
#10
Prachee Avasthi, Robin L Maser, Pamela V Tran
Primary cilia are small, antenna-like structures that detect mechanical and chemical cues and transduce extracellular signals. While mammalian primary cilia were first reported in the late 1800s, scientific interest in these sensory organelles has burgeoned since the beginning of the twenty-first century with recognition that primary cilia are essential to human health. Among the most common clinical manifestations of ciliary dysfunction are renal cysts. The molecular mechanisms underlying renal cystogenesis are complex, involving multiple aberrant cellular processes and signaling pathways, while initiating molecular events remain undefined...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28407881/enlarged-seminal-vesicles-as-an-initial-presentation-of-polycystic-kidney-disease
#11
Jeries P Zawaideh, Rodolfo Russo, Lorenzo E Derchi
No abstract text is available yet for this article.
May 2017: Kidney International
https://www.readbyqxmd.com/read/28406902/bicaudal-c-mutation-causes-myc-and-tor-pathway-up-regulation-and-polycystic-kidney-disease-like-phenotypes-in-drosophila
#12
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/28399020/therapeutic-micrornas-in-polycystic-kidney-disease
#13
Matanel Yheskel, Vishal Patel
PURPOSE OF REVIEW: microRNAs (miRNAs) are short noncoding RNAs that function as sequence-specific inhibitors of gene expression. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent genetic cause of end-stage kidney failure with limited treatment options. The realization that miRNA upregulation, and thus its gain-of-function, can drive the progression of ADPKD has raised the possibility that anti-miRs represent a novel drug class for this disorder. RECENT FINDINGS: A common set of miRNAs are aberrantly expressed in various murine models of polycystic kidney disease...
April 8, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28395294/treatment-of-persistent-gross-hematuria-with-tranexamic-acid-in-autosomal-dominant-polycystic-kidney-disease
#14
Qing Yao, Ming Wu, Jie Zhou, Meiyang Zhou, Dongping Chen, Lili Fu, Rongrong Bian, Xiaohong Xing, Lijun Sun, Xiaohong Hu, Lin Li, Bing Dai, Rudolf P Wüthrich, Yiyi Ma, Chang-Lin Mei
BACKGROUND/AIMS: In this retrospective study we aimed to compare the effect of tranexamic acid (TXA) vs etamsylate, two hemostatic agents, on hematuria duration in autosomal dominant polycystic kidney disease (ADPKD) patients with persistent gross hematuria. METHODS: This is a retrospective study of 40 patients with ADPKD and macroscopic hematuria. 20 patients receiving TXA and snake venom blood clotting enzyme injection were compared with 20 matched patients receiving etamsylate and snake venom blood clotting enzyme injection...
April 11, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/28390001/defective-glycolysis-and-the-use-of-2-deoxy-d-glucose-in-polycystic-kidney-disease-from-animal-models-to-humans
#15
REVIEW
Riccardo Magistroni, Alessandra Boletta
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD). ADPKD is a chronic disorder in which the gradual expansion of cysts that form in a minority of nephrons eventually causes loss of renal function due to the compression and degeneration of the surrounding normal parenchyma. Numerous deranged pathways have been identified in the cyst-lining epithelia, prompting the design of potential therapies...
April 7, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28387829/hereditary-polycystic-kidney-disease-is-characterized-by-lymphopenia-across-all-stages-of-kidney-dysfunction-an-observational-study
#16
Steven Van Laecke, Tessa Kerre, Evi V Nagler, Bart Maes, Rogier Caluwe, Eva Schepers, Griet Glorieux, Wim Van Biesen, Francis Verbeke
Background: Polycystic kidney disease (PKD) is characterized by urinary tract infections and extrarenal abnormalities such as an increased risk of cancer. As mutations in polycystin-1 and -2 are associated with decreased proliferation of immortalized lymphoblastoid cells in PKD, we investigated whether lymphopenia could be an unrecognized trait of PKD. Methods: We studied 700 kidney transplant recipients with ( n  = 126) or without PKD at the time of kidney transplantation between 1 January 2003 and 31 December 2014 at Ghent University Hospital...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28386880/long-term-effect-of-coffee-consumption-on-autosomal-dominant-polycystic-kidneys-disease-progression-results-from-the-suisse-adpkd-a-prospective-longitudinal-cohort-study
#17
Laura Girardat-Rotar, Milo A Puhan, Julia Braun, Andreas L Serra
BACKGROUND: Previous in vitro experiments of human polycystic kidney disease (PKD) cells reported that caffeine is a risk factor for the promotion of cyst enlargement in patients with autosomal dominant PKD (ADPKD). The relentless progression of ADPKD inclines the majority of physicians to advocate minimization of caffeine consumption despite the absence of clinical data supporting such a recommendation so far. This is the first clinical study to assess prospectively the association between coffee consumption and disease progression in a longitudinal ADPKD cohort...
April 6, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28386535/clinical-trials-in-pediatric-autosomal-dominant-polycystic-kidney-disease
#18
REVIEW
Melissa A Cadnapaphornchai
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is associated with concerning long-term implications for kidney function and cardiovascular health. Early intervention is needed in order to mitigate these long-term complications. Herein, we review important findings from recent clinical trials in ADPKD and their relevance to affected children and young adults and consider future directions for intervention. Recent clinical trials support aggressive control of blood pressure with blockade of the renin-angiotensin-aldosterone system as well as potential benefit of pravastatin therapy in children and young adults with ADPKD...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28385574/ouabain-promotes-partial-epithelial-to-mesenchymal-transition-emt-changes-in-human-autosomal-dominant-polycystic-kidney-disease-adpkd-cells
#19
Jessica Venugopal, Jeffrey McDermott, Gladis Sanchez, Madhulika Sharma, Leandro Barbosa, Gail A Reif, Darren P Wallace, Gustavo Blanco
The hormone ouabain has been shown to enhance the cystic phenotype of autosomal dominant polycystic kidney disease (ADPKD). Among other characteristics, the ADPKD phenotype includes cell de-differentiation and epithelial to mesenchymal transition (EMT). Here, we determined whether physiological concentrations of ouabain induces EMT in human renal epithelial cells from patients with ADPKD. We found that ADPKD cells respond to ouabain with a decrease in expression of the epithelial marker E-cadherin and increase in the expression of the mesenchymal markers N-cadherin, α smooth muscle actin (αSMA) and collagen-I; and the tight junction protein occludin and claudin-1...
April 3, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28379536/multicenter-open-label-extension-trial-to-evaluate-the-long-term-efficacy-and-safety-of-early-versus-delayed-treatment-with-tolvaptan-in-autosomal-dominant-polycystic-kidney-disease-the-tempo-4-4-trial
#20
Vicente E Torres, Arlene B Chapman, Olivier Devuyst, Ron T Gansevoort, Ronald D Perrone, Ann Dandurand, John Ouyang, Frank S Czerwiec, Jaime D Blais
Background.: In TEMPO 3:4, the vasopressin V2 receptor antagonist tolvaptan slowed total kidney volume (TKV) growth and estimated glomerular filtration rate (eGFR) decline relative to placebo. Methods.: TEMPO 4:4 was designed to provide an additional 2 years of data on the long-term safety and efficacy of tolvaptan in subjects completing TEMPO 3:4. The objective was to assess the disease-modifying effects of tolvaptan on TKV and eGFR end-points including change from baseline over the combined duration of TEMPO 3:4 and TEMPO 4:4, and non-inferiority of slopes during TEMPO 4:4...
March 31, 2017: Nephrology, Dialysis, Transplantation
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