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European heart journal

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September 21, 2016: European Heart Journal
F-C Tang, C-C Chan
BACKGROUND/OBJECTIVES: Branched-chain amino acids (BCAAs) and purine nucleotide cycle (PNC) are both associated with energy metabolism. The purpose of this study was to explore the influences of BCAA supplementation on the PNC activity of male athletes in response to a bout of endurance running exercise. SUBJECTS/METHODS: Twelve male athletes (20.3±1.4 years) participated in the study. Each of the athletes received 12 g of a BCAA supplement (leucine 54%, isoleucine 19% and valine 27%) per day during the study...
September 28, 2016: European Journal of Clinical Nutrition
Sofie Lindgren Christiansen, Christin Løth Hertz, Laura Ferrero-Miliani, Morten Dahl, Peter Ejvin Weeke, LuCamp, Gyda Lolk Ottesen, Rune Frank-Hansen, Henning Bundgaard, Niels Morling
In forensic medicine, one-third of the sudden deaths remain unexplained after medico-legal autopsy. A major proportion of these sudden unexplained deaths (SUD) are considered to be caused by inherited cardiac diseases. Sudden cardiac death (SCD) may be the first manifestation of these diseases. The purpose of this study was to explore the yield of next-generation sequencing of genes associated with SCD in a cohort of SUD victims. We investigated 100 genes associated with cardiac diseases in 61 young (1-50 years) SUD cases...
September 21, 2016: European Journal of Human Genetics: EJHG
(no author information available yet)
No abstract text is available yet for this article.
September 1, 2016: European Heart Journal
Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas-Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xose S Puente, Doron M Behar, Carlos Lopez-Otın
In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied whole-exome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome necessitating early-onset heart transplant. Exome analysis identified compound heterozygous variants in the FLNC gene...
September 7, 2016: European Journal of Human Genetics: EJHG
Stefan Agewall
No abstract text is available yet for this article.
October 2016: European Heart Journal. Cardiovascular Pharmacotherapy
Stefan Agewall
No abstract text is available yet for this article.
October 2015: European Heart Journal. Cardiovascular Pharmacotherapy
L Mamluk, M G O'Doherty, P Orfanos, G Saitakis, J V Woodside, L M Liao, R Sinha, P Boffetta, A Trichopoulou, F Kee
BACKGROUND/OBJECTIVES: There is limited information to support definitive recommendations concerning the role of diet in the development of type 2 Diabetes mellitus (T2DM). The results of the latest meta-analyses suggest that an increased consumption of green leafy vegetables may reduce the incidence of diabetes, with either no association or weak associations demonstrated for total fruit and vegetable intake. Few studies have, however, focused on older subjects. SUBJECTS/METHODS: The relationship between T2DM and fruit and vegetable intake was investigated using data from the NIH-AARP study and the EPIC Elderly study...
August 17, 2016: European Journal of Clinical Nutrition
J Wirth, R di Giuseppe, H Boeing, C Weikert
BACKGROUND/OBJECTIVES: Growing evidence emerged about the role of diet in heart failure (HF) development, but data are sparse and inconclusive. We examined the association between a Mediterranean-style diet, its components and HF risk. SUBJECTS/METHODS: Analyses were carried out in 24 008 middle-aged participants of the European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam (Germany), including 209 incident HF cases within 8.2 years. The traditional Greek Mediterranean diet score (tMED) was used to assess dietary adherence...
September 2016: European Journal of Clinical Nutrition
S R Mirhafez, M Ebrahimi, M Saberi Karimian, A Avan, M Tayefi, A Heidari-Bakavoli, M R Parizadeh, M Moohebati, M R Azarpazhooh, H Esmaily, M Nematy, M Safarian, G A Ferns, M Ghayour-Mobarhan
BACKGROUND/OBJECTIVES: Metabolic syndrome (MetS) is characterized by abdominal obesity, dyslipidemia, hypertension and glucose intolerance, and is associated with an increased risk of developing cardiovascular disease (CVD), diabetes mellitus and related diseases. Circulating levels of inflammatory markers such as C-reactive-protein (CRP) have reported to be associated with CVD. Against this background, the prevalence of MetS is increasing globally, and thus predictive biomarkers are required for identification of MetS patients at an increased risk...
July 27, 2016: European Journal of Clinical Nutrition
Aimee D C Paulussen, Anja Steyls, Jo Vanoevelen, Florence Hj van Tienen, Ingrid P C Krapels, Godelieve Rf Claes, Sonja Chocron, Crool Velter, Gita M Tan-Sindhunata, Catarina Lundin, Irene Valenzuela, Balint Nagy, Iben Bache, Lisa Leth Maroun, Kristiina Avela, Han G Brunner, Hubert J M Smeets, Jeroen Bakkers, Arthur van den Wijngaard
Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism. A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene...
July 13, 2016: European Journal of Human Genetics: EJHG
John K Field, Stephen W Duffy, David R Baldwin, Kate E Brain, Anand Devaraj, Tim Eisen, Beverley A Green, John A Holemans, Terry Kavanagh, Keith M Kerr, Martin Ledson, Kate J Lifford, Fiona E McRonald, Arjun Nair, Richard D Page, Mahesh Kb Parmar, Robert C Rintoul, Nicholas Screaton, Nicholas J Wald, David Weller, David K Whynes, Paula R Williamson, Ghasem Yadegarfar, David M Hansell
BACKGROUND: Lung cancer kills more people than any other cancer in the UK (5-year survival < 13%). Early diagnosis can save lives. The USA-based National Lung Cancer Screening Trial reported a 20% relative reduction in lung cancer mortality and 6.7% all-cause mortality in low-dose computed tomography (LDCT)-screened subjects. OBJECTIVES: To (1) analyse LDCT lung cancer screening in a high-risk UK population, determine optimum recruitment, screening, reading and care pathway strategies; and (2) assess the psychological consequences and the health-economic implications of screening...
May 2016: Health Technology Assessment: HTA
(no author information available yet)
Deceptive meaning of oxygen uptake measured at the anaerobic threshold in patients with systolic heart failure and atrial fibrillation by Magri et al., European Journal of Preventive Cardiology 2015 22: 1046-1055, DOI: 10.1177/2047487314551546.
July 2016: European Journal of Preventive Cardiology
Christine Bond, Hanne Bruhn, Antoinette de Bont, Job van Exel, Reinhard Busse, Matthew Sutton, Robert Elliott
INTRODUCTION: The size and composition of the European Union healthcare workforce are key drivers of expenditure and performance; it now includes new health professions and enhanced roles for established professions. This project will systematically analyse how this has contributed to health service redesign, integration and performance in 9 European countries (Scotland, England, Netherlands, Germany, Italy, Czech Republic, Poland, Norway, and Turkey(i)). This paper describes the protocol for collection of survey data in 3 distinct care pathways, and sets it in the context of the wider programme...
2016: BMJ Open
T A D'Ascoli, J Mursu, S Voutilainen, J Kauhanen, T-P Tuomainen, J K Virtanen
BACKGROUND/OBJECTIVES: Fish intake and the long-chain omega-3 polyunsaturated fatty acids (PUFAs) in fish have been suggested to lower the risk of cognitive decline. We assessed whether serum long-chain omega-3 PUFAs eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA) and docosahexaenoic acid (DHA) are associated with performance on neuropsychological tests in an older population and whether exposure to methylmercury, mainly from fish, or apolipoprotein-E4 (Apo-E4) phenotype can modify the associations...
August 2016: European Journal of Clinical Nutrition
D Kromhout, C J K Spaaij, J de Goede, R M Weggemans
The objective of this study was to derive food-based dietary guidelines for the Dutch population. The dietary guidelines are based on 29 systematic reviews of English language meta-analyses in PubMed summarizing randomized controlled trials and prospective cohort studies on nutrients, foods and food patterns and the risk of 10 major chronic diseases: coronary heart disease, stroke, heart failure, diabetes, breast cancer, colorectal cancer, lung cancer, chronic obstructive pulmonary disease, dementia and depression...
August 2016: European Journal of Clinical Nutrition
Naouma Siouta, Karen van Beek, Nancy Preston, Jeroen Hasselaar, Sean Hughes, Sheila Payne, Eduardo Garralda, Carlos Centeno, Marlieke van der Eerden, Marieke Groot, Farina Hodiamont, Lukas Radbruch, Csilla Busa, Agnes Csikos, Johan Menten
BACKGROUND: Despite the positive impact of Palliative Care (PC) on the quality of life for patients and their relatives, the implementation of PC in non-cancer health-care delivery in the EU seems scarcely addressed. The aim of this study is to assess guidelines/pathways for integrated PC in patients with advanced Chronic Heart Failure (CHF) and Chronic Obstructive Pulmonary Disease (COPD) in Europe via a systematic literature review. METHODS: Search results were screened by two reviewers...
February 13, 2016: BMC Palliative Care
Mengyuan Kan, Paul L Auer, Gao T Wang, Kristine L Bucasas, Stanley Hooker, Alejandra Rodriguez, Biao Li, Jaclyn Ellis, L Adrienne Cupples, Yii-Der Ida Chen, Josée Dupuis, Caroline S Fox, Myron D Gross, Joshua D Smith, Nancy Heard-Costa, James B Meigs, James S Pankow, Jerome I Rotter, David Siscovick, James G Wilson, Jay Shendure, Rebecca Jackson, Ulrike Peters, Hua Zhong, Danyu Lin, Li Hsu, Nora Franceschini, Chris Carlson, Goncalo Abecasis, Stacey Gabriel, Michael J Bamshad, David Altshuler, Deborah A Nickerson, Kari E North, Leslie A Lange, Alexander P Reiner, Suzanne M Leal
Waist-to-hip ratio (WHR), a relative comparison of waist and hip circumferences, is an easily accessible measurement of body fat distribution, in particular central abdominal fat. A high WHR indicates more intra-abdominal fat deposition and is an established risk factor for cardiovascular disease and type 2 diabetes. Recent genome-wide association studies have identified numerous common genetic loci influencing WHR, but the contributions of rare variants have not been previously reported. We investigated rare variant associations with WHR in 1510 European-American and 1186 African-American women from the National Heart, Lung, and Blood Institute-Exome Sequencing Project...
August 2016: European Journal of Human Genetics: EJHG
Hélène Cavé, Aurélie Caye, Nehla Ghedira, Yline Capri, Nathalie Pouvreau, Natacha Fillot, Aurélien Trimouille, Cédric Vignal, Odile Fenneteau, Yves Alembik, Jean-Luc Alessandri, Patricia Blanchet, Odile Boute, Patrice Bouvagnet, Albert David, Anne Dieux Coeslier, Bérénice Doray, Olivier Dulac, Valérie Drouin-Garraud, Marion Gérard, Delphine Héron, Bertrand Isidor, Didier Lacombe, Stanislas Lyonnet, Laurence Perrin, Marlène Rio, Joëlle Roume, Sylvie Sauvion, Annick Toutain, Catherine Vincent-Delorme, Marjorie Willems, Clarisse Baumann, Alain Verloes
Noonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients. We report a series of 44 patients from 30 pedigrees (including nine multiplex families) with mutations in RIT1. These patients display a typical Noonan gestalt and facial phenotype. Among the probands, 8.7% showed postnatal growth retardation, 90% had congenital heart defects, 36% had hypertrophic cardiomyopathy (a lower incidence compared with previous report), 50% displayed speech delay and 52% had learning difficulties, but only 22% required special education...
August 2016: European Journal of Human Genetics: EJHG
A Blasquez, H Clouzeau, M Fayon, J-B Mouton, J-B Thambo, R Enaud, T Lamireau
BACKGROUND/OBJECTIVES: The objective of this disease was to determine the prevalence of malnutrition in children with congenital heart disease (CHD). SUBJECTS/METHODS: A total of 125 children with CHD, under 6 months of age, were divided into four groups: no pulmonary hypertension (PH) or cyanosis (group 1, n=47), isolated cyanosis (group 2, n=52), isolated PH (group 3, n=16), and PH and cyanosis (group 4, n=10). Six children died at 6 months (n=4), 12 months (n=1) and 19 months (n=1)...
April 2016: European Journal of Clinical Nutrition
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