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Dent's disease

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https://www.readbyqxmd.com/read/28717862/practical-considerations-for-the-use-of-subcutaneous-treatment-in-the-management-of-dyslipidaemia
#1
REVIEW
Franck Boccara, Ricardo Dent, Luis Ruilope, Paul Valensi
Suboptimal drug adherence represents a major challenge to effective primary and secondary prevention of cardiovascular disease. While adherence is influenced by multiple considerations, polypharmacy and dosing frequency appear to be rate-limiting factors in patient satisfaction and subsequent adherence. The cardiovascular and metabolic therapeutic areas have recently benefited from a number of advances in drug therapy, in particular protease proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors and incretin-based therapies, respectively...
July 17, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28710589/primary-care-physician-perspectives-on-barriers-to-statin-treatment
#2
Rikki M Tanner, Monika M Safford, Keri L Monda, Benjamin Taylor, Ronan O'Beirne, Melanie Morris, Lisandro D Colantonio, Ricardo Dent, Paul Muntner, Robert S Rosenson
PURPOSE: Discontinuation of statin therapy represents a major challenge for effective cardiovascular disease prevention. It is unclear how often primary care physicians (PCPs) re-initiate statins and what barriers they encounter. We aimed to identify PCP perspectives on factors influencing statin re-initiation. METHODS: We conducted six nominal group discussions with 23 PCPs from the Deep South Continuing Medical Education network. PCPs answered questions about statin side effects, reasons their patients reported for discontinuing statins, how they respond when discontinuation is reported, and barriers they encounter in getting their patients to re-initiate statin therapy...
July 14, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28710211/occupational-risk-for-legionella-infection-among-dental-healthcare-workers-meta-analysis-in-occupational-epidemiology
#3
Stefano Petti, Matteo Vitali
OBJECTIVE: The occupational risk for Legionella infection among dental healthcare workers (DHCWs) is conjectured because of the risk of routine inhalation of potentially contaminated aerosols produced by the dental instruments. Nevertheless, occupational epidemiology studies are contrasting. This meta-analysis assessed the level of scientific evidence regarding the relative occupational risk for Legionella infection among DHCWs. METHODS: Literature search was performed without time and language restrictions, using broad data banks (PubMed, Scopus, Web of Science, GOOGLE Scholar) and generic keywords ('legionella' AND 'dent*')...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28678172/factors-influencing-the-accuracy-of-infectious-disease-reporting-in-migrants-a-scoping-review
#4
REVIEW
Paolo Giorgi Rossi, Flavia Riccardo, Annamaria Pezzarossi, Paola Ballotari, Maria Grazia Dente, Christian Napoli, Antonio Chiarenza, Cesar Velasco Munoz, Teymur Noori, Silvia Declich
We conducted a scoping review of literature to improve our understanding of the accuracy of infectious disease monitoring in migrants in the Europe. We searched PubMed for papers relevant to the topic including: case reports, observational and experimental studies, reviews, guidelines or policy documents; published after 1994. We identified 532 papers, 27 of which were included in the review. Legislation and right to access health care influence both the accuracy of rates and risk measures under estimating the at risk population, i...
July 5, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28669993/the-5-phosphatase-ocrl-in-lowe-syndrome-and-dent-disease-2
#5
REVIEW
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma, Olivier Devuyst
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are nonetheless pivotal regulators of intracellular trafficking. In this Review we summarize the considerable progress made over the past decade in understanding the cellular roles of OCRL in regulating phosphoinositide balance along the endolysosomal pathway, a fundamental system for the reabsorption of proteins and solutes by proximal tubular cells...
August 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28654583/tumor-to-nipple-distance-as-a-predictor-of-nipple-involvement-expanding-the-inclusion-criteria-for-nipple-sparing-mastectomy
#6
Briar L Dent, Jake A Miller, Daniel J Eden, Alexander Swistel, Mia Talmor
BACKGROUND: A tumor-to-nipple distance of greater than 2 cm has traditionally been considered a criterion for nipple-sparing mastectomy. This study evaluates whether magnetic resonance imaging and sonographic measurements of tumor-to-nipple distance accurately reflect the risk of nipple involvement by disease. METHODS: All nipple-sparing mastectomy cases with implant-based reconstruction performed by the senior author between July 2006 and December 2014 were retrospectively reviewed...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28644091/prevention-of-cardiovascular-disease-in-patients-with-familial-hypercholesterolaemia-the-role-of-pcsk9-inhibitors
#7
Ivan Pećin, Merel L Hartgers, G Kees Hovingh, Ricardo Dent, Željko Reiner
Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolaemia is relatively common, but is often underdiagnosed and undertreated. Cardiologists are likely to encounter many individuals with familial hypercholesterolaemia; however, patients presenting with premature ASCVD are rarely screened for familial hypercholesterolaemia and fasting lipid levels are infrequently documented...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28613444/interindividual-differences-in-embodied-marginalization-osteological-and-stable-isotope-analyses-of-antebellum-enslaved-individuals
#8
Sophia C Dent
OBJECTIVES: Through pathological and stable isotope analyses, this study probes the stressors, disease ecology, and diets of enslaved individuals from an antebellum plantation cemetery. The study aims to highlight how interindividual isotopic differences reveal that marginalization is not uniformly experienced or embodied. METHODS: The cemetery population consists of 16 individuals; dental and skeletal pathological indicators were collected for all individuals, and light stable isotope ratios (δ(15) N, δ(13) C) were generated from the collagen and hydroxyapatite of nine individuals...
July 8, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28580211/dent-disease-same-clcn5-mutation-but-different-phenotypes-in-two-brothers-in-china
#9
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28466399/identification-and-management-of-statin-associated-symptoms-in-clinical-practice-extension-of-a-clinician-survey-to-12-further-countries
#10
Robert S Rosenson, Shravanthi R Gandra, Jan McKendrick, Ricardo Dent, Heather Wieffer, Lung-I Cheng, Alberico L Catapano, Paul Oh, G Kees Hovingh, Erik S Stroes
PURPOSE: Statins are the first-choice pharmacological treatment for patients with hypercholesterolemia and at risk for cardiovascular disease; however, a minority of patients experience statin-associated symptoms (SAS) and are considered to have reduced statin tolerance. The objective of this study was to establish how patients with SAS are identified and managed in clinical practice in Austria, Belgium, Colombia, Croatia, the Czech Republic, Denmark, Portugal, Switzerland, Russia, Saudi Arabia, Turkey, and the United Arab Emirates...
April 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28424240/the-histone-acetyltransferase-gcn5-positively-regulates-t-cell-activation
#11
Beixue Gao, Qingfei Kong, Yana Zhang, Chawon Yun, Sharon Y R Dent, Jianxun Song, Donna D Zhang, Yiming Wang, Xuemei Li, Deyu Fang
Histone acetyltransferases (HATs) regulate inducible transcription in multiple cellular processes and during inflammatory and immune response. However, the functions of general control nonrepressed-protein 5 (Gcn5), an evolutionarily conserved HAT from yeast to human, in immune regulation remain unappreciated. In this study, we conditionally deleted Gcn5 (encoded by the Kat2a gene) specifically in T lymphocytes by crossing floxed Gcn5 and Lck-Cre mice, and demonstrated that Gcn5 plays important roles in multiple stages of T cell functions including development, clonal expansion, and differentiation...
May 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#12
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28369398/oral-streptococcal-endocarditis-oral-hygiene-habits-and-recent-dental-procedures-a-case-control-study
#13
Xavier Duval, Sarah Millot, Catherine Chirouze, Christine Selton-Suty, Vanessa Moby, Pierre Tattevin, Christophe Strady, Edouard Euvrard, Nelly Agrinier, Daniel Thomas, Bruno Hoen, François Alla
Background.: We aimed to compare oral hygiene habits, orodental status, and dental procedures in patients with infective endocarditis (IE) according to whether the IE-causing microorganism originated in the oral cavity. Methods.: We conducted an assessor-blinded case-control study in 6 French tertiary-care hospitals. Oral hygiene habits were recorded using a self-administered questionnaire. Orodental status was analyzed by trained dental practitioners blinded to the microorganism, using standardized clinical examination and dental panoramic tomography...
June 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28357180/diagnosis-and-treatment-of-dent-disease-in-10-chinese-boys
#14
Guohua He, Hongwen Zhang, Fang Wang, Xiaoyu Liu, Huijie Xiao, Yong Yao
Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. All 10 childhood cases of Dent disease in China presented with tubular proteinuria in the nephrotic range and hypercalciuria...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28350380/transcriptomic-profiling-of-39-commonly-used-neuroblastoma-cell-lines
#15
Jo Lynne Harenza, Maura A Diamond, Rebecca N Adams, Michael M Song, Heather L Davidson, Lori S Hart, Maiah H Dent, Paolo Fortina, C Patrick Reynolds, John M Maris
Neuroblastoma cell lines are an important and cost-effective model used to study oncogenic drivers of the disease. While many of these cell lines have been previously characterized with SNP, methylation, and/or mRNA expression microarrays, there has not been an effort to comprehensively sequence these cell lines. Here, we present raw whole transcriptome data generated by RNA sequencing of 39 commonly-used neuroblastoma cell lines. These data can be used to perform differential expression analysis based on a genetic aberration or phenotype in neuroblastoma (e...
March 28, 2017: Scientific Data
https://www.readbyqxmd.com/read/28350011/characterisation-of-male-breast-cancer-a-descriptive-biomarker-study-from-a-large-patient-series
#16
Matthew P Humphries, Sreekumar Sundara Rajan, Hedieh Honarpisheh, Gabor Cserni, Jo Dent, Laura Fulford, Lee B Jordan, J Louise Jones, Rani Kanthan, Maria Litwiniuk, Anna Di Benedetto, Marcella Mottolese, Elena Provenzano, Sami Shousha, Mark Stephens, Janina Kulka, Ian O Ellis, Akinwale N Titloye, Andrew M Hanby, Abeer M Shaaban, Valerie Speirs
Male breast cancer (MBC) is rare. We assembled 446 MBCs on tissue microarrays and assessed clinicopathological information, together with data from 15 published studies, totalling 1984 cases. By immunohistochemistry we investigated 14 biomarkers (ERα, ERβ1, ERβ2, ERβ5, PR, AR, Bcl-2, HER2, p53, E-cadherin, Ki67, survivin, prolactin, FOXA1) for survival impact. The main histological subtype in our cohort and combined analyses was ductal (81%, 83%), grade 2; (40%, 44%), respectively. Cases were predominantly ERα (84%, 82%) and PR positive (74%, 71%), respectively, with HER2 expression being infrequent (2%, 10%), respectively...
March 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28323933/transcriptional-dynamics-of-cultured-human-villous-cytotrophoblasts
#17
Joshua F Robinson, Mirhan Kapidzic, Matthew Gormley, Katherine Ona, Terrence Dent, Helia Seifikar, Emily G Hamilton, Susan J Fisher
During human pregnancy, cytotrophoblasts (CTBs) play key roles in uterine invasion, vascular remodeling, and anchoring of the feto-placental unit. Due to the challenges associated with studying human placentation in utero, cultured primary villous CTBs are used as a model of the differentiation pathway that leads to invasion of the uterine wall. In vitro, CTBs emulate in vivo cell behaviors, such as migration, aggregation, and substrate penetration. Although some of the molecular features related to these cell behaviors have been described, the underlying mechanisms, at a global level, remain undefined at midgestation...
June 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28318045/diagnosis-of-gastro-oesophageal-reflux-disease-is-enhanced-by-adding-oesophageal-histology-and-excluding-epigastric-pain
#18
COMPARATIVE STUDY
N Vakil, M Vieth, B Wernersson, J Wissmar, J Dent
BACKGROUND: The diagnosis of gastro-oesophageal reflux disease (GERD) in clinical practice is limited by the sensitivity and specificity of symptoms and diagnostic testing. AIM: To determine if adding histology as a criterion and excluding patients with epigastric pain enhances the diagnosis for GERD. METHODS: Patients with frequent upper gastrointestinal symptoms who had not taken a proton pump inhibitor in the previous 2 months and who had evaluable distal oesophageal biopsies were included (Diamond study: NCT00291746)...
May 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28314577/nanotubes-the-fast-track-to-treatment-of-dent-disease
#19
Thomas E Willnow
Studies in mice have suggested bone marrow transplantation as a strategy to correct the endocytic dysfunction of the proximal tubules in renal Fanconi syndrome, yet the mode of action has remained mysterious. Using a mouse model of Dent disease, Gabriel et al. now show that rescue of the resorptive capacity in the diseased kidney involves cell-to-cell contact between engrafted and host cells via nanotubes, cellular projections that enable transfer of wild-type activity into mutant cells of the proximal tubule...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28302290/statin-intolerance-and-risk-of-coronary-heart-events-and-all-cause-mortality-following-myocardial-infarction
#20
Maria-Corina Serban, Lisandro D Colantonio, Angelika D Manthripragada, Keri L Monda, Vera A Bittner, Maciej Banach, Ligong Chen, Lei Huang, Ricardo Dent, Shia T Kent, Paul Muntner, Robert S Rosenson
BACKGROUND: Many patients report adverse reactions to, and may not tolerate, statin therapy. These patients may be at increased risk for coronary heart disease (CHD) events and mortality. OBJECTIVES: This study evaluated the risk for recurrent myocardial infarction (MI), CHD events, and all-cause mortality in Medicare beneficiaries with statin intolerance and in those with high adherence to statin therapy. METHODS: We studied 105,329 Medicare beneficiaries who began a moderate- or high-intensity statin dosage after hospitalization for MI between 2007 and 2013...
March 21, 2017: Journal of the American College of Cardiology
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