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https://www.readbyqxmd.com/read/28771489/additional-value-of-screening-for-minor-genes-and-copy-number-variants-in-hypertrophic-cardiomyopathy
#1
Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat Del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303)...
2017: PloS One
https://www.readbyqxmd.com/read/28769146/what-does-a-swiss-franc-mortgage-cost-the-tale-of-polish-trust-for-foreign-currency-denominated-mortgages-implications-for-well-being-and-health
#2
Piotr Białowolski, Dorota Węziak-Białowolska
It is commonly agreed that excessive household financial debts are detrimental to psychological and physical health. Research also demonstrates that housing instability, mortgage indebtedness and mortgage foreclosure negatively influence subjective well-being. In Poland at the beginning of 2015, homeowners with Swiss franc denominated mortgages suffered from an abrupt swing in the Swiss franc/Polish zloty (CHF/PLN) exchange rate, which resulted in considerable increase in the local currency value of their mortgages...
2017: Social Indicators Research
https://www.readbyqxmd.com/read/28761107/regulatory-t-cells-from-pancreatic-lymphnodes-of-patients-with-type-1-diabetes-express-increased-levels-of-microrna-mir-125a-5p-that-limits-ccr2-expression
#3
Guido Sebastiani, Giuliana Ventriglia, Angela Stabilini, Carlo Socci, Cristina Morsiani, Andrea Laurenzi, Laura Nigi, Caterina Formichi, Bechara Mfarrej, Alessandra Petrelli, Georgia Fousteri, Todd M Brusko, Francesco Dotta, Manuela Battaglia
Autoimmune type 1 diabetes (T1D) is thought to be caused by a defective immune regulation with regulatory T (Treg) cells playing a fundamental role in this process. Tolerance mechanisms depend on tunable responses that are sensitive to minor perturbations in the expression of molecules that can be carried out by multiple epigenetic mechanisms, including regulation by microRNAs. In this study, microRNA expression profile was investigated in Treg cells isolated from peripheral blood (PB) and from pancreatic draining lymph nodes (PLN) of T1D patients and non-diabetic subjects...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28759816/phospholamban-immunostaining-is-a-highly-sensitive-and-specific-method-for-diagnosing-phospholamban-p-arg14del-cardiomyopathy
#4
Wouter P Te Rijdt, Z Joy van der Klooster, Edgar T Hoorntje, Jan D H Jongbloed, Paul A van der Zwaag, Folkert W Asselbergs, Dennis Dooijes, Rudolf A de Boer, J Peter van Tintelen, Maarten P van den Berg, Aryan Vink, Albert J H Suurmeijer
Phospholamban (PLN) p.Arg14del cardiomyopathy is associated with an increased risk of malignant ventricular arrhythmias and severe heart failure and a poor prognosis from late adolescence. It can be diagnosed in whole heart specimens, but rarely in right ventricular biopsy specimens, by PLN immunohistochemistry showing PLN-containing aggregates concentrated in cardiomyocytes in dense perinuclear aggresomes. The purpose of this study was to determine whether PLN immunohistochemistry can be used to diagnose PLN p...
May 30, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28734932/a-pyridone-derivative-activates-serca2a-by-attenuating-the-inhibitory-effect-of-phospholamban
#5
Manami Kaneko, Hisato Yamamoto, Hiroki Sakai, Yusuke Kamada, Toshiki Tanaka, Shuji Fujiwara, Synsuke Yamamoto, Hiroki Takahagi, Hideyuki Igawa, Shizuo Kasai, Masakuni Noda, Makoto Inui, Tomoyuki Nishimoto
The cardiac sarco/endoplasmic reticulum Ca(2+)-dependent ATPase 2a (SERCA2a) plays a central role in Ca(2+) handling within cardiomyocytes and is negatively regulated by phospholamban (PLN), a sarcoplasmic reticulum (SR) membrane protein. The activation of SERCA2a, which has been reported to improve cardiac dysfunction in heart failure, is a potential therapeutic approach for heart failure. Therefore, we developed a novel small molecule, compound A and characterized it both in vitro and in vivo. Compound A activated the Ca(2+)-dependent ATPase activity of cardiac SR vesicles but not that of skeletal muscle SR vesicles that lack PLN...
July 19, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28666722/adjuvant-pelvic-radiation-is-associated-with-improved-survival-and-decreased-disease-recurrence-in-pelvic-node-positive-penile-cancer-after-lymph-node-dissection-a-multi-institutional-study
#6
Dominic H Tang, Rosa Djajadiningrat, Gregory Diorio, Juan Chipollini, Zhenjun Ma, Braydon J Schaible, Mario Catanzaro, Dingwei Ye, Yao Zhu, Nicola Nicolai, Simon Horenblas, Peter A S Johnstone, Philippe E Spiess
PURPOSE: Few studies have examined the role of radiation therapy in advanced penile squamous cell carcinoma. We sought to evaluate the association of adjuvant pelvic radiation with survival and recurrence for patients with penile cancer and positive pelvic lymph nodes (PLNs) after lymph node dissection. MATERIALS AND METHODS: Data were collected retrospectively across 4 international centers of patients with penile squamous cell carcinoma undergoing lymph node dissections from 1980 to 2013...
June 27, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28660632/proposed-new-staging-system-for-ampulla-of-vater-cancer-with-greater-discriminatory-ability-multinational-study-from-eastern-and-western-centers
#7
Jin He, Jae Ri Kim, Seung Yeoun Lee, Jinseok Oh, Taesung Park, Mee Joo Kang, Wooil Kwon, Hongbeom Kim, Sun-Whe Kim, John L Cameron, Christopher L Wolfgang, Jin-Young Jang
BACKGROUND: We built a multinational retrospective database of patients with ampulla of Vater cancer to develop a reliable new staging system. METHOD: This study included 841 patients with ampulla of Vater cancer after curative surgery at Seoul National University Hospital (n = 440) and Johns Hopkins University medical institutions (n = 401) between 1985 and 2013. RESULTS: The 5-year overall survival (OS) rates of patients staged according to the 7(th) American Joint Committee on Cancer staging system were 80...
June 29, 2017: Journal of Hepato-biliary-pancreatic Sciences
https://www.readbyqxmd.com/read/28657221/implications-of-para-aortic-lymph-node-metastasis-in-patients-with-endometrial-cancer-without-pelvic-lymph-node-metastasis
#8
Yukiharu Todo, Sho Takeshita, Kazuhira Okamoto, Katsushige Yamashiro, Hidenori Kato
OBJECTIVE: The aim of this study was to confirm the incidence and implications of a lymphatic spread pattern involving para-aortic lymph node (PAN) metastasis in the absence of pelvic lymph node (PLN) metastasis in patients with endometrial cancer. METHODS: We carried out a retrospective chart review of 380 patients with endometrial cancer treated by surgery including PLN dissection and PAN dissection at Hokkaido Cancer Center between 2003 and 2016. We determined the probability of PAN metastasis in patients without PLN metastasis and investigated survival outcomes of PLN-PAN+ patients...
September 2017: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/28656205/role-of-pka-in-the-process-of-neonatal-cardiomyocyte-hypertrophy-induced-by-urotensin%C3%A2-ii
#9
Jianrong Xu, Qinghua Han, Hongtao Shi, Wenyuan Liu, Tingting Chu, Hao Li
The model of urotensin II (UII)-induced cardiomyocyte hypertrophy has been widely used in studies on hypertrophy. However, the molecular mechanisms responsible for UII-induced cardiomyocyte hypertrophy have not yet been fully elucidated. It has been demonstrated that cardiomyocyte hypertrophy induced by UII is associated with changes in the intracellular Ca2+ concentration. In the present study, we investigated whether the cAMP-dependent protein kinase A (PKA)‑mediated upregulation of the phosphorylation levels of phospholamban (PLN) at Ser16 contributes to UII-induced cardiomyocyte hypertrophy...
June 22, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28649039/pm2-5-exposure-in-utero-contributes-to-neonatal-cardiac-dysfunction-in-mice
#10
Vineeta Tanwar, Jeremy M Adelstein, Jacob A Grimmer, Dane J Youtz, Benjamin P Sugar, Loren E Wold
OBJECTIVE: Exposure of fine particulate matter (PM2.5) to pregnant dams has been shown to be strongly associated with adverse cardiovascular outcomes in offspring at adulthood, however, effects evident during neonatal periods are unclear. We designed this study to examine cardiac function of neonatal mice (14 days old) exposed to in utero PM2.5. METHODS: Pregnant FVB female mice were exposed either to filtered air (FA) or PM2.5 at an average concentration of 91...
June 22, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28647548/the-bioeconomy-in-poland-within-the-context-of-the-european-union
#11
REVIEW
Ewa Woźniak, Tomasz Twardowski
This article outlines the potential of the development of bioeconomy in Poland in the context of the European Union (EU). The analyses take into account the concept of bioeconomy, the overview of documents referring to the bioeconomy in the EU, including policy frameworks and agendas. Many countries including Poland emphasise the importance of bioeconomy, but have not yet developed a complex strategy. The state of bioeconomy in Poland is characterised by the sectors of agriculture, forestry and food production, as well as parts of the chemical, biotechnology and energy industries...
June 21, 2017: New Biotechnology
https://www.readbyqxmd.com/read/28643586/new-insights-into-the-burden-and-costs-of-multiple-sclerosis-in-europe-results-for-poland
#12
Krzysztof Selmaj, Gisela Kobelt, Jenny Berg, Ewa Orlewska, Daniela Capsa, Johan Dalén
BACKGROUND: In order to estimate the value of interventions in multiple sclerosis (MS) - where lifetime costs and outcomes cannot be observed - outcome data have to be combined with costs. This requires that cost data be regularly updated. OBJECTIVE AND METHODS: This study is part of a cross-sectional retrospective study in 16 European countries collecting current data on resource consumption, work capacity, health-related quality of life (HRQoL) and prevalent symptoms for patients with MS...
August 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28643322/difficulties-in-funding-of-va-ecmo-therapy-for-patients-with-severe-accidental-hypothermia
#13
Sylweriusz Kosiński, Tomasz Darocha, Anna Jarosz, Aleksandra Czerw, Paweł Podsiadło, Tomasz Sanak, Robert Gałązkowski, Jacek Piątek, Janusz Konstanty-Kalandyk, Mirosław Ziętkiewicz, Krzysztof Kusza, Łukasz J Krzych, Rafał Drwiła
BACKGROUND: Severe accidental hypothermia is defined as a core temperature below 28 Celsius degrees. Within the last years, the issue of accidental hypothermia and accompanying cardiac arrest has been broadly discussed and European Resuscitation Council (ERC) Guidelines underline the importance of Extracorporeal Rewarming (ECR) in treatment of severely hypothermic victims. The study aimed to evaluate the actual costs of ECR with VA-ECMO and of further management in the Intensive Care Unit of patients admitted to the Severe Accidental Hypothermia Centre in Cracow, Poland...
2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/28643218/empagliflozin-improves-left-ventricular-diastolic-dysfunction-in-a-genetic-model-of-type-2-diabetes
#14
Nadjib Hammoudi, Dongtak Jeong, Rajvir Singh, Ahmed Farhat, Michel Komajda, Eric Mayoux, Roger Hajjar, Djamel Lebeche
PURPOSE: Cardiovascular (CV) diseases in type 2 diabetes (T2DM) represent an enormous burden with high mortality and morbidity. Sodium-glucose cotransporter 2 (SGLT2) inhibitors have recently emerged as a new antidiabetic class that improves glucose control, as well as body weight and blood pressure with no increased risk of hypoglycemia. The first CV outcome study terminated with empagliflozin, a specific SGLT2 inhibitor, has shown a reduction in CV mortality and in heart failure hospitalization, suggesting a beneficial impact on cardiac function which remains to be demonstrated...
June 22, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28618335/specific-interactions-between-zinc-metalloproteinase-and-its-inhibitors-ab-initio-fragment-molecular-orbital-calculations
#15
Ayami Ara, Ryushi Kadoya, Hiromi Ishimura, Kanako Shimamura, Ingebrigt Sylte, Noriyuki Kurita
Bacteria secrete the enzyme pseudolysin (PLN) to degrade exocellular proteins, and the produced peptides are used as a nutrient for the bacteria. It is thus expected that inhibition of PLN can suppress bacterial growth. Since such inhibitors do not attack to bacteria directly, the risk of producing drug-resistance bacteria is less. However, endogenous proteinases such as the matrix metalloproteinases (MMPs) have active site similar to that of PLN, and there is a possibility that PLN inhibitors also inhibit the activity of MMPs, resulting in a loss of substrate degradation by these proteinases...
June 8, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28608577/use-of-a-granulocyte-immunofluorescence-assay-designed-for-humans-for-detection-of-antineutrophil-cytoplasmic-antibodies-in-dogs-with-chronic-enteropathies
#16
J Florey, A Viall, S Streu, V DiMuro, A Riddle, J Kirk, L Perazzotti, K Affeldt, R Wagner, S Vaden, T Harris, K Allenspach
BACKGROUND: Perinuclear antineutrophil cytoplasmic antibodies (pANCA) previously have been shown to be serum markers in dogs with chronic enteropathies, with dogs that have food-responsive disease (FRD) having higher frequencies of seropositivity than dogs with steroid-responsive disease (SRD). The indirect immunofluorescence (IIF) assay used in previous publications is time-consuming to perform, with low interobserver agreement. HYPOTHESIS/OBJECTIVES: We hypothesized that a commercially available granulocyte IIF assay designed for humans could be used to detect perinuclear antineutrophil cytoplasmic antibodies in dogs...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28592907/-epidemiology-of-asthma-in-adults-living-in-the-silesian-voivodeship-according-to-secondary-epidemiological-data
#17
Ewa Niewiadomska, Małgorzata Kowalska
BACKGROUND: Asthma is a serious public health challenge because of the increasing number of people with a new diagnosis and consequently the increasing costs of medical treatment (direct and indirect). The aim of this study is to analyze available epidemiological data with respect to their spatial and temporal variability in the Silesian voivodeship. In addition, the costs incurred by the National Health Fund (Narodowy Fundusz Zdrowia - NFZ) in treating asthmaic patients are analyzed...
June 8, 2017: Medycyna Pracy
https://www.readbyqxmd.com/read/28590366/effect-of-gwas-identified-genetic-variants-on-maximum-qt-interval-in-patients-with-schizophrenia-receiving-antipsychotic-agents-a-24-hour-holter-ecg-study
#18
Junzo Watanabe, Naoki Fukui, Yutaro Suzuki, Takuro Sugai, Shin Ono, Nobuto Tsuneyama, Mami Saito, Misuzu Tajiri, Toshiyuki Someya
BACKGROUND: Users of antipsychotics (APs) have a risk of sudden cardiac death (SCD). Sudden cardiac death in such patients is thought to be largely due to drug-induced QT prolongation. It has been reported that many subjects with drug-induced torsades de pointes (TdP) have risk alleles associated with subclinical congenital long QT syndrome. METHODS: We investigated the effects of the risk alleles associated with long QT on the QT interval in patients receiving APs using 24-hour Holter electrocardiograms to take into account the circadian fluctuation of QT intervals...
August 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28582491/role-of-cell-intrinsic-and-environmental-age-related-changes-in-altered-maintenance-of-murine-t-cells-in-lymphoid-organs
#19
John S Davies, Heather L Thompson, Vesna Pulko, Jose Padilla Torres, Janko Nikolich-Žugich
Age-related changes in primary lymphoid organs are well described. Less is known about age-related changes affecting peripheral lymphoid organs, although defects in old peripheral lymph nodes (pLN) were recently described in both steady state and during viral infection. To address whether such pLN defects were intrinsic to old T cells or extrinsic (due to aging microenvironment) we employed heterochronic parabiosis. We found no age-related intrinsic or extrinsic barriers to T cell circulation and seeding of pLN, spleen and bone marrow...
June 3, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28554993/a-review-of-the-structure-preparation-and-application-of-nlcs-pnps-and-plns
#20
REVIEW
Qianwen Li, Tiange Cai, Yinghong Huang, Xi Xia, Susan P C Cole, Yu Cai
Nanostructured lipid carriers (NLCs) are modified solid lipid nanoparticles (SLNs) that retain the characteristics of the SLN, improve drug stability and loading capacity, and prevent drug leakage. Polymer nanoparticles (PNPs) are an important component of drug delivery. These nanoparticles can effectively direct drug delivery to specific targets and improve drug stability and controlled drug release. Lipid-polymer nanoparticles (PLNs), a new type of carrier that combines liposomes and polymers, have been employed in recent years...
May 27, 2017: Nanomaterials
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