9618 results
Cited 5 times since 2015 (0.5 per year)
source: EuropePMC
PloS one,
Volume 10, Issue 11, 20 3 2015, Pages e0143079
Candidate Gene Analysis of Mortality in Dialysis Patients.
Rothuizen TC, Ocak G, Verschuren JJ, Dekker FW, Rabelink TJ, Jukema JW, Rotmans JI
Background: Dialysis patients have high cardiovascular mortality risk. This study aimed to investigate the association between SNPs of genes involved in vascular processes and mortality in dialysis patients. Methods: Forty two SNPs in 25 genes involved in endothelial function, vascular remodeling, cell proliferation, inflammation, coagulation and calcium/phosphate metabolism were genotyped in 1330 incident dialysis patients. The effect of SNPs on 5-years cardiovascular and non-cardiovascular mor...
Abstract
Cited 4 times since 2015 (0.4 per year)
source: EuropePMC
JIMD reports,
Volume 28, 14 2 2015, Pages 95-103
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
van der Tol L, Verhamme C, van Schaik IN, van der Kooi AJ, Hollak CE, Biegstraaten M
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase A enzyme deficiency due to pathogenic variants in the α-galactosidase A gene (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A definite diagnosis of FD has important consequences for treatment and counselling. Objectives: We assessed the diagnostic value of quantitative sensory testing (QST) and intraepidermal nerve fibre den...
Abstract
Cited 5 times since 2015 (0.5 per year)
source: EuropePMC
NPJ aging and mechanisms of disease,
Volume 1, 12 2 2015, Pages 15011
Fine mapping the <i>CETP</i> region reveals a common intronic insertion associated to HDL-C.
van Leeuwen EM, Huffman JE, Bis JC, Isaacs A, Mulder M, Sabo A, Smith AV, Demissie S, Manichaikul A, Brody JA, Feitosa MF, Duan Q, Schraut KE, Navarro P, van Vliet-Ostaptchouk JV, Zhu G, Mbarek H, Trompet S, Verweij N, Lyytikäinen LP, Deelen J, Nolte IM, van der Laan SW, Davies G, Vermeij-Verdoold AJ, van Oosterhout AA, Vergeer-Drop JM, Arking DE, Trochet H, Generation Scotland, Medina-Gomez C, Rivadeneira F, Uitterlinden AG, Dehghan A, Franco OH, Sijbrands EJ, Hofman A, White CC, Mychaleckyj JC, Peloso GM, Swertz MA, LifeLines Cohort Study, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Ford I, Buckley BM, de Craen AJ, Starr JM, Deary IJ, Pasterkamp G, Oldehinkel AJ, Snieder H, Slagboom PE, Nikus K, Kähönen M, Lehtimäki T, Viikari JS, Raitakari OT, van der Harst P, Jukema JW, Hottenga JJ, Boomsma DI, Whitfield JB, Montgomery G, Martin NG, CHARGE Lipids Working Group, Polasek O, Vitart V, Hayward C, Kolcic I, Wright AF, Rudan I, Joshi PK, Wilson JF, Lange LA, Wilson JG, Gudnason V, Harris TB, Morrison AC,
Background: Individuals with exceptional longevity and their offspring have significantly larger high-density lipoprotein concentrations (HDL-C) particle sizes due to the increased homozygosity for the I405V variant in the cholesteryl ester transfer protein (CETP) gene. In this study, we investigate the association of CETP and HDL-C further to identify novel, independent CETP variants associated with HDL-C in humans. Methods: We performed a meta-analysis of HDL-C within the CETP region using 59,...
Abstract
Cited 61 times since 2015 (6.2 per year)
source: EuropePMC
American journal of human genetics,
Volume 97, Issue 6, 12 2 2015, Pages 775-789
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.
Palamara PF, Francioli LC, Wilton PR, Genovese G, Gusev A, Finucane HK, Sankararaman S, Genome of the Netherlands Consortium, Sunyaev SR, de Bakker PI, Wakeley J, Pe'er I, Price AL
The rate at which human genomes mutate is a central biological parameter that has many implications for our ability to understand demographic and evolutionary phenomena. We present a method for inferring mutation and gene-conversion rates by using the number of sequence differences observed in identical-by-descent (IBD) segments together with a reconstructed model of recent population-size history. This approach is robust to, and can quantify, the presence of substantial genotyping error, as val...
Abstract
Cited 7 times since 2015 (0.7 per year)
source: EuropePMC
Heart rhythm,
Volume 13, Issue 2, 11 2 2015, Pages 504-510
Troponin levels after ICD implantation with and without defibrillation testing and their predictive value for outcomes: Insights from the SIMPLE trial.
Vamos M, Healey JS, Wang J, Duray GZ, Connolly SJ, van Erven L, Vinolas X, Neuzner J, Glikson M, Hohnloser SH
Background: The Shockless IMPLant Evaluation trial randomized 2500 patients receiving a first implantable cardioverter-defibrillator (ICD)/cardiac resynchronization therapy-defibrillator device to have either defibrillation testing (DT) or no DT. It demonstrated that DT did not improve shock efficacy or reduce mortality. Objective: This prospective substudy evaluated the effect of DT on postoperative troponin levels and their predictive value for total and arrhythmic mortality. Methods: Troponin...
Abstract
Cited 62 times since 2015 (6.3 per year)
source: EuropePMC
Human molecular genetics,
Volume 25, Issue 2, 10 2 2015, Pages 358-370
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
de Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, Tang W, Teumer A, Marioni RE, Grossmann V, Hottenga JJ, Trompet S, Müller-Nurasyid M, Zhao JH, Brody JA, Kleber ME, Guo X, Wang JJ, Auer PL, Attia JR, Yanek LR, Ahluwalia TS, Lahti J, Venturini C, Tanaka T, Bielak LF, Joshi PK, Rocanin-Arjo A, Kolcic I, Navarro P, Rose LM, Oldmeadow C, Riess H, Mazur J, Basu S, Goel A, Yang Q, Ghanbari M, Willemsen G, Rumley A, Fiorillo E, de Craen AJ, Grotevendt A, Scott R, Taylor KD, Delgado GE, Yao J, Kifley A, Kooperberg C, Qayyum R, Lopez LM, Berentzen TL, Räikkönen K, Mangino M, Bandinelli S, Peyser PA, Wild S, Trégouët DA, Wright AF, Marten J, Zemunik T, Morrison AC, Sennblad B, Tofler G, de Maat MP, de Geus EJ, Lowe GD, Zoledziewska M, Sattar N, Binder H, Völker U, Waldenberger M, Khaw KT, Mcknight B, Huang J, Jenny NS, Holliday EG, Qi L, Mcevoy MG, Becker DM, Starr JM, Sarin AP, Hysi PG, Hernandez DG, Jhun MA, Campbell H, Hamsten A, Rivadeneira F, Mcardle WL, Slagboom PE, Zeller T, Koenig W, Psat
Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including ∼120 000 participants of European ancestry (95 806 participants with data on...
Abstract
Cited 3 times since 2015 (0.3 per year)
source: EuropePMC
Environmental pollution (Barking, Essex : 1987),
Volume 208, Issue Pt B, 6 1 2015, Pages 361-370
Assessment of biological effects of environmental pollution in Mersin Bay (Turkey, northeastern Mediterranean Sea) using Mullus barbatus and Liza ramada as target organisms.
Yılmaz D, Kalay M, Dönmez E, Yılmaz N
The increasing emphasis on the assessment and monitoring of marine ecosystems has revealed the need to use appropriate biological indicators for these areas. Enzyme activities and histopathology are increasingly being used as indicators of environmental stress since they provide a definite biological end-point of pollutant exposure. As part of an ecotoxicological assessment of Mersin Bay, EROD enzyme activity and histopathological response in selected organs and tissues of two species of fish, M...
Abstract
Cited 3 times since 2015 (0.3 per year)
source: EuropePMC
BMJ case reports,
Volume 2015, 5 1 2015, Pages bcr2015212271
Enterobius vermicularis infection of the liver in a patient with colorectal carcinoma with suspected liver metastasis.
Furnée EJ, Spoto C, de Graaf MJ, Smakman N
A 68-year-old man diagnosed with cT3N2 adenocarcinoma of the rectum presented with a synchronous solitary liver metastasis on CT scan. Neoadjuvant chemoradiotherapy was started to downstage the primary tumour. Resection of the rectal tumour followed 3 months after the last radiotherapy session and primary resection of the isolated liver lesion was performed in the intervening period. Histopathological assessment of the liver lesion, however, showed no malignancy, but did reveal a necrotic infect...
Abstract
Cited 49 times since 2015 (5 per year)
source: EuropePMC
Heart (British Cardiac Society),
Volume 101, Issue 24, 5 1 2015, Pages 1989-1995
Contemporary survival of adults with congenital heart disease.
van der Bom T, Mulder BJ, Meijboom FJ, van Dijk AP, Pieper PG, Vliegen HW, Konings TC, Zwinderman AH, Bouma BJ
Background: Survival data that are applicable to the current population of adults with congenital heart disease (CHD) are not available. Objectives: Using an alternative survival analysis with age as the primary time scale, we assessed the contemporary survival of adult patients with CHD. Methods: Survival was assessed using prospective data of the national registry of adult patients with CHD of the Netherlands. Survival was stratified by severity and lesion, and compared with a standardised gen...
Abstract
Cited 94 times since 2015 (9.6 per year)
source: EuropePMC
Circulation. Cardiovascular genetics,
Volume 8, Issue 6, 4 1 2015, Pages 832-841
Effect of Smoking on Blood Pressure and Resting Heart Rate: A Mendelian Randomization Meta-Analysis in the CARTA Consortium.
Linneberg A, Jacobsen RK, Skaaby T, Taylor AE, Fluharty ME, Jeppesen JL, Bjorngaard JH, Åsvold BO, Gabrielsen ME, Campbell A, Marioni RE, Kumari M, Marques-Vidal P, Kaakinen M, Cavadino A, Postmus I, Ahluwalia TS, Wannamethee SG, Lahti J, Räikkönen K, Palotie A, Wong A, Dalgård C, Ford I, Ben-Shlomo Y, Christiansen L, Kyvik KO, Kuh D, Eriksson JG, Whincup PH, Mbarek H, de Geus EJ, Vink JM, Boomsma DI, Smith GD, Lawlor DA, Kisialiou A, McConnachie A, Padmanabhan S, Jukema JW, Power C, Hyppönen E, Preisig M, Waeber G, Vollenweider P, Korhonen T, Laatikainen T, Salomaa V, Kaprio J, Kivimaki M, Smith BH, Hayward C, Sørensen TI, Thuesen BH, Sattar N, Morris RW, Romundstad PR, Munafò MR, Jarvelin MR, Husemoen LL
Background: Smoking is an important cardiovascular disease risk factor, but the mechanisms linking smoking to blood pressure are poorly understood. Methods and results: Data on 141 317 participants (62 666 never, 40 669 former, 37 982 current smokers) from 23 population-based studies were included in observational and Mendelian randomization meta-analyses of the associations of smoking status and smoking heaviness with systolic and diastolic blood pressure, hypertension, and resting heart rate....
Abstract
Cited 2 times since 2015 (0.2 per year)
source: EuropePMC
Expert review of cardiovascular therapy,
Volume 14, Issue 1, 4 1 2015, Pages 75-86
The role of multimodality imaging in the selection of patients for aortic valve repair.
Regeer MV, Versteegh MI, Marsan NA, Bax JJ, Delgado V
Aortic valve sparing surgery for aortic regurgitation and/or aortopathy serves as an alternative to aortic valve and root replacement. One of the advantages of aortic valve sparing surgery over conventional replacement is that there is no need for life-long anticoagulation, which is particularly attractive in young patients who may receive a mechanical prosthesis otherwise. However, successful aortic valve repair requires high expertise. At present, reparability is determined intraoperatively by...
Abstract
EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology,
Volume 11, Issue 7, 1 1 2015, Pages e1
An atypical clinical presentation of a broken guidewire left in the venous system.
Montero-Cabezas JM, de Groot R, Schalij MJ
Abstract
Cited 35 times since 2015 (3.6 per year)
source: EuropePMC
Annals of surgery,
Volume 262, Issue 5, 1 1 2015, Pages 841-7; discussion 847-8
Inhibition of MicroRNA-494 Reduces Carotid Artery Atherosclerotic Lesion Development and Increases Plaque Stability.
Wezel A, Welten SM, Razawy W, Lagraauw HM, de Vries MR, Goossens EA, Boonstra MC, Hamming JF, Kandimalla ER, Kuiper J, Quax PH, Nossent AY, Bot I
Objectives: Unstable atherosclerotic lesions in carotid arteries require surgical endarterectomy to reduce the risk of ischemic stroke. We aimed to identify microRNAs that exert a broad effect on atherosclerotic plaque formation and stability in the carotid artery. Background: We made a selection of 164 genes involved in atherosclerosis. Using www.targetscan.org, we determined which microRNAs potentially regulate expression of these genes. We identified multiple microRNAs from the 14q32 microRNA...
Abstract
European heart journal,
Volume 36, Issue 41, 1 1 2015, Pages 2763-2766
EHJ's new impact factor of 15.2: a global strategy is paying off.
Lüscher TF, Bax JJ, Gersh BJ, Hindricks G, Landmesser U, Ruschitzka F, Wijns W
Abstract
Cited 13 times since 2015 (1.3 per year)
source: EuropePMC
Journal of midwifery & women's health,
Volume 60, Issue 6, 1 1 2015, Pages 735-743
Successes and Challenges of Interprofessional Physiologic Birth and Obstetric Emergency Simulations in a Nurse-Midwifery Education Program.
Shaw-Battista J, Belew C, Anderson D, van Schaik S
This article describes childbirth simulation design and implementation within the nurse-midwifery education program at the University of California, San Francisco. Nurse-midwife and obstetrician faculty coordinators were supported by faculty from multiple professions and specialties in curriculum review and simulation development and implementation. The primary goal of the resulting technology-enhanced simulations of normal physiologic birth and obstetric emergencies was to assist learners'...
Abstract
Cited 9 times since 2015 (0.9 per year)
source: EuropePMC
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation,
Volume 23, Issue 11, 1 1 2015, Pages 539-545
Platypnoea-orthodeoxia syndrome, an underdiagnosed cause of hypoxaemia: four cases and the possible underlying mechanisms.
Nassif M, Lu H, Konings TC, Bouma BJ, Vonk Noordegraaf A, Straver B, Blom NA, Clur SA, Backx AP, Groenink M, Boekholdt SM, Koolbergen DR, Hazekamp MG, Mulder BJ, de Winter RJ
Cardiac platypnoea-orthodeoxia syndrome (POS) is a position-dependent condition of dyspnoea and hypoxaemia due to right-to-left shunting. It often remains unrecognised in clinical practice, possibly because of its complex underlying pathophysiology. We present four consecutive patients with POS and patent foramen ovale (PFO) who underwent a successful percutaneous PFO closure, describe the mechanism of their POS and provide a review of the literature.
Abstract
Cited 16 times since 2015 (1.6 per year)
source: EuropePMC
PloS one,
Volume 10, Issue 10, 30 5 2015, Pages e0140496
Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.
Bis JC, Sitlani C, Irvin R, Avery CL, Smith AV, Sun F, Evans DS, Musani SK, Li X, Trompet S, Krijthe BP, Harris TB, Quibrera PM, Brody JA, Demissie S, Davis BR, Wiggins KL, Tranah GJ, Lange LA, Sotoodehnia N, Stott DJ, Franco OH, Launer LJ, Stürmer T, Taylor KD, Cupples LA, Eckfeldt JH, Smith NL, Liu Y, Wilson JG, Heckbert SR, Buckley BM, Ikram MA, Boerwinkle E, Chen YD, de Craen AJ, Uitterlinden AG, Rotter JI, Ford I, Hofman A, Sattar N, Slagboom PE, Westendorp RG, Gudnason V, Vasan RS, Lumley T, Cummings SR, Taylor HA, Post W, Jukema JW, Stricker BH, Whitsel EA, Psaty BM, Arnett D
Background: Hypertension is a major risk factor for a spectrum of cardiovascular diseases (CVD), including myocardial infarction, sudden death, and stroke. In the US, over 65 million people have high blood pressure and a large proportion of these individuals are prescribed antihypertensive medications. Although large long-term clinical trials conducted in the last several decades have identified a number of effective antihypertensive treatments that reduce the risk of future clinical complicatio...
Abstract
Cited 19 times since 2015 (1.9 per year)
source: EuropePMC
PloS one,
Volume 10, Issue 10, 30 5 2015, Pages e0140815
Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class Restriction.
Klarenbeek PL, Doorenspleet ME, Esveldt RE, van Schaik BD, Lardy N, van Kampen AH, Tak PP, Plenge RM, Baas F, de Bakker PI, de Vries N
Every person carries a vast repertoire of CD4+ T-helper cells and CD8+ cytotoxic T cells for a healthy immune system. Somatic VDJ recombination at genomic loci that encode the T-cell receptor (TCR) is a key step during T-cell development, but how a single T cell commits to become either CD4+ or CD8+ is poorly understood. To evaluate the influence of TCR sequence variation on CD4+/CD8+ lineage commitment, we sequenced rearranged TCRs for both α and β chains in naïve T cells isolated from healthy...
Abstract
Cited 169 times since 2015 (17.2 per year)
source: EuropePMC
Nature protocols,
Volume 10, Issue 12, 29 5 2015, Pages 1939-1947
Human norovirus culture in B cells.
Jones MK, Grau KR, Costantini V, Kolawole AO, de Graaf M, Freiden P, Graves CL, Koopmans M, Wallet SM, Tibbetts SA, Schultz-Cherry S, Wobus CE, Vinjé J, Karst SM
Human noroviruses (HuNoVs) are a leading cause of foodborne disease and severe childhood diarrhea, and they cause a majority of the gastroenteritis outbreaks worldwide. However, the development of effective and long-lasting HuNoV vaccines and therapeutics has been greatly hindered by their uncultivability. We recently demonstrated that a HuNoV replicates in human B cells, and that commensal bacteria serve as a cofactor for this infection. In this protocol, we provide detailed methods for culturi...
Abstract
Cited 9 times since 2015 (0.9 per year)
source: EuropePMC
European journal of nuclear medicine and molecular imaging,
Volume 43, Issue 2, 29 5 2015, Pages 326-332
The impact of acquisition time of planar cardiac (123)I-MIBG imaging on the late heart to mediastinum ratio.
Dimitriu-Leen AC, Gimelli A, Al Younis I, Veltman CE, Verberne HJ, Wolterbeek R, Zandbergen-Harlaar S, Bax JJ, Scholte AJHA
Purpose: The aim of this study was to investigate whether performing the late cardiac (123)I-metaiodobenzylguanidine (MIBG) scan earlier than 4 h post-injection (p.i.) has relevant impact on the late heart to mediastinum ratio (H/M ratio) in patients with heart failure (HF). Methods: Forty-nine patients with HF (median left ventricular ejection fraction of 31 %, 51 % ischaemic HF) referred for cardiac (123)I-MIBG scintigraphy were scanned at 15 min (early) p.i. and at 1, 2, 3 and 4 h (late) p.i....
Abstract
