8892 results
Cited 13 times since 2019 (2.1 per year)
source: EuropePMC
JBMR plus,
Volume 3, Issue 9, 26 4 2019, Pages e10206
Despite Genetic Iron Overload, <i>Hfe</i>-Hemochromatosis Mice Do Not Show Bone Loss.
Wagner A, Alan B, Yilmaz D, Ahmad M, Liu P, Tangudu NK, Tuckermann JP, Vujic Spasic M
One of the most prevalent genetic iron overload disorders in Caucasians is caused by mutations in the HFE gene. Both HFE patients and Hfe-mouse models develop a progressive accumulation of iron in the parenchymal cells of various tissues, eventually resulting in liver cirrhosis, hepatocellular carcinoma, cardiomyopathies, hypogonadism, and other pathologies. Clinical data and preclinical models have brought considerable attention to the correlation between iron overload and the development of os...
Abstract
Cited 3 times since 2019 (0.5 per year)
source: EuropePMC
BMJ open,
Volume 9, Issue 7, 26 4 2019, Pages e029716
Subclinical thyroid dysfunction and depressive symptoms: protocol for a systematic review and individual participant data meta-analysis of prospective cohort studies.
Wildisen L, Moutzouri E, Beglinger S, Syrogiannouli L, Cappola AR, Åsvold BO, Bakker SJL, Ceresini G, Dullaart R, Ferrucci L, Grabe H, Jukema JW, Nauck M, Trompet S, Völzke H, Westendorp RGJ, Gussekloo J, Peeters RP, Klöppel S, Aujesky D, Bauer DC, Rodondi N, Del Giovane C, Feller M, Thyroid Studies Collaboration
Introduction: Prospective cohort studies on the association between subclinical thyroid dysfunction and depressive symptoms have yielded conflicting findings, possibly because of differences in age, sex, thyroid-stimulating hormone cut-off levels or degree of baseline depressive symptoms. Analysis of individual participant data (IPD) may help clarify this association. Methods and analysis: We will conduct a systematic review and IPD meta-analysis of prospective studies on the association between...
Abstract
Cited 20 times since 2019 (3.2 per year)
source: EuropePMC
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance,
Volume 21, Issue 1, 25 4 2019, Pages 43
Stress increases intracardiac 4D flow cardiovascular magnetic resonance -derived energetics and vorticity and relates to VO<sub>2</sub>max in Fontan patients.
Kamphuis VP, Elbaz MSM, van den Boogaard PJ, Kroft LJM, Lamb HJ, Hazekamp MG, Jongbloed MRM, Blom NA, Helbing WA, Roest AAW, Westenberg JJM
Background: We hypothesize that dobutamine-induced stress impacts intracardiac hemodynamic parameters and that this may be linked to decreased exercise capacity in Fontan patients. Therefore, the purpose of this study was to assess the effect of pharmacologic stress on intraventricular kinetic energy (KE), viscous energy loss (EL) and vorticity from four-dimensional (4D) Flow cardiovascular magnetic resonance (CMR) imaging in Fontan patients and to study the association between stress response a...
Abstract
Cited 46 times since 2019 (7.4 per year)
source: EuropePMC
American journal of human genetics,
Volume 105, Issue 2, 25 4 2019, Pages 283-301
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of S. cerevisiae as a model system, and the assessment of cell viability in HeLa cells allowed us to classify eleven variants as probably disease-causing...
Abstract
Cited 22 times since 2019 (3.5 per year)
source: EuropePMC
JMIR mental health,
Volume 6, Issue 7, 25 4 2019, Pages e12707
Unraveling the Black Box: Exploring Usage Patterns of a Blended Treatment for Depression in a Multicenter Study.
Kemmeren LL, van Schaik A, Smit JH, Ruwaard J, Rocha A, Henriques M, Ebert DD, Titzler I, Hazo JB, Dorsey M, Zukowska K, Riper H
Background: Blended treatments, combining digital components with face-to-face (FTF) therapy, are starting to find their way into mental health care. Knowledge on how blended treatments should be set up is, however, still limited. To further explore and optimize blended treatment protocols, it is important to obtain a full picture of what actually happens during treatments when applied in routine mental health care. Objective: The aims of this study were to gain insight into the usage of the dif...
Abstract
Cited 7 times since 2019 (1.1 per year)
source: EuropePMC
European journal of nutrition,
Volume 59, Issue 5, 24 4 2019, Pages 2159-2169
Adherence to a food group-based dietary guideline and incidence of prediabetes and type 2 diabetes.
den Braver NR, Rutters F, van der Spek ALJK, Ibi D, Looman M, Geelen A, Elders P, van der Heijden AA, Brug J, Lakerveld J, Soedamah-Muthu SS, Beulens JWJ
Purpose: In this study, we investigated the association between adherence to the Dutch Healthy Diet index 2015 (DHD15-index) and incidence of prediabetes (preT2D) and Type 2 Diabetes (T2D) in a representative sample for the general Dutch population. Methods: Two prospective cohort studies, The Hoorn and The New Hoorn Study, were used for data analyses. In total, data from 2951 participants without diabetes at baseline (mean age 56.5 ± 7.5 years; 49.6% male) were harmonized. Baseline dietary inta...
Abstract
Cited 135 times since 2019 (21.6 per year)
source: EuropePMC
Nature communications,
Volume 10, Issue 1, 22 4 2019, Pages 3274
Involvement of G-quadruplex regions in mammalian replication origin activity.
Prorok P, Artufel M, Aze A, Coulombe P, Peiffer I, Lacroix L, Guédin A, Mergny JL, Damaschke J, Schepers A, Cayrou C, Teulade-Fichou MP, Ballester B, Méchali M
Genome-wide studies of DNA replication origins revealed that origins preferentially associate with an Origin G-rich Repeated Element (OGRE), potentially forming G-quadruplexes (G4). Here, we functionally address their requirements for DNA replication initiation in a series of independent approaches. Deletion of the OGRE/G4 sequence strongly decreased the corresponding origin activity. Conversely, the insertion of an OGRE/G4 element created a new replication origin. This element also promoted rep...
Abstract
Cited 11 times since 2019 (1.8 per year)
source: EuropePMC
Journal of experimental psychology. General,
Volume 149, Issue 3, 18 3 2019, Pages 585-589
Preference reversals during risk elicitation.
Kusev P, van Schaik P, Martin R, Hall L, Johansson P
Understanding human behavior from the perspective of normative and descriptive theories depends on human agents having stable and coherent decision-making preferences. Both utility theory (expected rational behavior; von Neumann & Morgenstern, 1947) and prospect theory, with its certainty equivalent (CE) method (expected irrational behavior; Tversky & Kahneman, 1992), assume stable behavioral patterns of risk preferences. In contrast, our research pursues the opposite proposal: Human pre...
Abstract
Cited 7 times since 2019 (1.1 per year)
source: EuropePMC
PloS one,
Volume 14, Issue 7, 18 3 2019, Pages e0219588
Patient preferences for a guided self-help programme to prevent relapse in anxiety or depression: A discrete choice experiment.
Muntingh ADT, Hoogendoorn AW, Van Schaik DJF, Van Straten A, Stolk EA, Van Balkom AJLM, Batelaan NM
Background: Anxiety and depressive disorders are increasingly being viewed as chronic conditions with fluctuating symptom levels. Relapse prevention programmes are needed to increase self-management and prevent relapse. Fine-tuning relapse prevention programmes to the needs of patients may increase uptake and effectiveness. Materials and methods: A discrete choice experiment (DCE) was conducted amongst patients with a partially or fully remitted anxiety or depressive disorder. Patients were pres...
Abstract
Cited 37 times since 2019 (5.9 per year)
source: EuropePMC
Arteriosclerosis, thrombosis, and vascular biology,
Volume 39, Issue 9, 18 3 2019, Pages 1859-1873
Glycoproteomic Analysis of the Aortic Extracellular Matrix in Marfan Patients.
Yin 殷晓科 X, Wanga S, Fellows AL, Barallobre-Barreiro J, Lu R, Davaapil H, Franken R, Fava M, Baig F, Skroblin P, Xing Q, Koolbergen DR, Groenink M, Zwinderman AH, Balm R, de Vries CJM, Mulder BJM, Viner R, Jahangiri M, Reinhardt DP, Sinha S, de Waard V, Mayr M
Objective: Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an extracellular matrix (ECM) component, which is modified post-translationally by glycosylation. This study aimed to characterize the glycoproteome of the aortic ECM from patients with MFS and relate it to aortopathy. Approach and Results: ECM extracts of aneurysmal ascending aortic tissue from patients with and without MFS were enriched for glycopeptides. Direct N-glycopeptide analysis by mass spectrometry identifie...
Abstract
Cited 49 times since 2019 (7.8 per year)
source: EuropePMC
Journal of the American Heart Association,
Volume 8, Issue 15, 17 3 2019, Pages e010881
Clinical Features and Outcomes of Patients With Malignancy and Takotsubo Syndrome: Observations From the International Takotsubo Registry.
Cammann VL, Sarcon A, Ding KJ, Seifert B, Kato K, Di Vece D, Szawan KA, Gili S, Jurisic S, Bacchi B, Micek J, Frangieh AH, Napp LC, Jaguszewski M, Bossone E, Citro R, D'Ascenzo F, Franke J, Noutsias M, Knorr M, Heiner S, Burgdorf C, Koenig W, Thiele H, Tschöpe C, Rajan L, Michels G, Pfister R, Cuneo A, Jacobshagen C, Karakas M, Banning A, Cuculi F, Kobza R, Fischer TA, Vasankari T, Airaksinen KEJ, Dworakowski R, Kaiser C, Osswald S, Galiuto L, Dichtl W, Delmas C, Lairez O, Horowitz JD, Kozel M, Widimský P, Tousek P, Winchester DE, Gilyarova E, Shilova A, Gilyarov M, El-Battrawy I, Akin I, Ukena C, Bauersachs J, Pieske BM, Hasenfuß G, Rottbauer W, Braun-Dullaeus RC, Opolski G, MacCarthy P, Felix SB, Borggrefe M, Di Mario C, Crea F, Katus HA, Schunkert H, Münzel T, Böhm M, Bax JJ, Prasad A, Shinbane J, Lüscher TF, Ruschitzka F, Ghadri JR, Templin C
Background Clinical characteristics and outcomes of takotsubo syndrome (TTS) patients with malignancy have not been fully elucidated. This study sought to explore differences in clinical characteristics and to investigate short- and long-term outcomes in TTS patients with or without malignancy. Methods and Results TTS patients were enrolled from the International Takotsubo Registry. The TTS cohort was divided into patients with and without malignancy to investigate differences in clinical charac...
Abstract
Cited 6 times since 2019 (1 per year)
source: EuropePMC
BMC medical research methodology,
Volume 19, Issue 1, 17 3 2019, Pages 152
Explainable statistical learning in public health for policy development: the case of real-world suicide data.
van Schaik P, Peng Y, Ojelabi A, Ling J
Background: In recent years, the availability of publicly available data related to public health has significantly increased. These data have substantial potential to develop public health policy; however, this requires meaningful and insightful analysis. Our aim is to demonstrate how data analysis techniques can be used to address the issues of data reduction, prediction and explanation using online available public health data, in order to provide a sound basis for informing public health pol...
Abstract
Cited 7 times since 2019 (1.1 per year)
source: EuropePMC
Biology letters,
Volume 15, Issue 7, 17 3 2019, Pages 20190209
The loud scratch: a newly identified gesture of Sumatran orangutan mothers in the wild.
Fröhlich M, Lee K, Mitra Setia T, Schuppli C, van Schaik CP
The communicative function of primates' self-directed behaviours like scratching has gained increasing attention in recent years, but their intentional use is still debated. Here, we addressed this issue by exploring the communicative function of 'loud scratches' in wild Sumatran orangutans. Building on previous studies in chimpanzees, we examined the prediction that audio-visual loud scratches are used communicatively in mother-infant travel coordination. Specifically, we examine...
Abstract
Cited 7 times since 2019 (1.1 per year)
source: EuropePMC
JACC. Cardiovascular imaging,
Volume 12, Issue 11 Pt 1, 17 3 2019, Pages 2273-2276
Clinical and Echocardiographic Associates of All-Cause Mortality and Cardiovascular Outcomes in Patients With Systemic Sclerosis.
van Wijngaarden SE, Boonstra M, Bloem B, Cassani D, Tanner FC, Jordan S, Distler O, Delgado V, Bax JJ, de Vries-Bouwstra JK, Ajmone Marsan N
Abstract
Cited 31 times since 2019 (5 per year)
source: EuropePMC
JACC. Cardiovascular imaging,
Volume 12, Issue 12, 17 3 2019, Pages 2549-2554
A Roadmap to Assess Myocardial Work: From Theory to Clinical Practice.
van der Bijl P, Kostyukevich M, El Mahdiui M, Hansen G, Samset E, Ajmone Marsan N, Bax JJ, Delgado V
Abstract
Cited 25 times since 2019 (4 per year)
source: EuropePMC
Alimentary pharmacology & therapeutics,
Volume 50, Issue 4, 16 3 2019, Pages 386-396
Earlier discontinuation of TNF-α inhibitor therapy in female patients with inflammatory bowel disease is related to a greater risk of side effects.
Schultheiss JPD, Brand EC, Lamers E, van den Berg WCM, van Schaik FDM, Oldenburg B, Fidder HH
Background: In rheumatoid arthritis and psoriasis female sex has been shown to be associated with discontinuation of anti-tumour necrosis factor-α (TNF-α) therapy. Aim: To retrospectively assess the association between sex and TNF-α drug persistence in patients with inflammatory bowel disease (IBD). Methods: All IBD patients on anti-TNF-α therapy with a minimum follow-up of 12 months in a single tertiary centre were identified. Patient and treatment characteristics and reasons for anti-TNF-α dis...
Abstract
Cited 5 times since 2019 (0.8 per year)
source: EuropePMC
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography,
Volume 32, Issue 10, 13 2 2019, Pages 1277-1285
ST-Segment Elevation Myocardial Infarction in Patients With Chronic Obstructive Pulmonary Disease: Prognostic Implications of Right Ventricular Systolic Dysfunction as Assessed with Two-Dimensional Speckle-Tracking Echocardiography.
Goedemans L, Hoogslag GE, Abou R, Schalij MJ, Marsan NA, Bax JJ, Delgado V
Background: Right ventricular (RV) systolic function in patients admitted with ST-segment elevation myocardial infarction (STEMI) with chronic obstructive pulmonary disease (COPD) and its impact on prognosis have not been characterized. The present study aims to compare the prevalence of RV systolic dysfunction in COPD versus non-COPD patients with STEMI and evaluate the prognostic implications. Methods: One hundred seventeen STEMI patients with COPD with transthoracic echocardiography performed...
Abstract
Cited 5 times since 2019 (0.8 per year)
source: Scopus
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography,
Volume 32, Issue 9, 13 2 2019, Pages 1058-1066.e2
Changes in Left Ventricular Global Longitudinal Strain after Transcatheter Aortic Valve Implantation according to Calcification Burden of the Thoracic Aorta.
Gegenava T, Vollema EM, van Rosendael A, Abou R, Goedemans L, van der Kley F, de Weger A, Ajmone Marsan N, Bax JJ, Delgado V
Background: After transcatheter aortic valve replacement (TAVR), changes in left ventricular (LV) function are partly influenced by the vascular afterload. The burden of thoracic aorta calcification is a component of vascular afterload. Objective: To assess changes in LV systolic function measured with global longitudinal strain (GLS) in relation to the burden of thoracic aorta calcification in patients with severe aortic stenosis treated with TAVR. Methods: Calcification of the thoracic aorta w...
Abstract
Cited 27 times since 2019 (4.3 per year)
source: EuropePMC
Journal for immunotherapy of cancer,
Volume 7, Issue 1, 12 2 2019, Pages 182
Donor-derived cell-free DNA detects kidney transplant rejection during nivolumab treatment.
Hurkmans DP, Verhoeven JGHP, de Leur K, Boer K, Joosse A, Baan CC, von der Thüsen JH, van Schaik RHN, Mathijssen RHJ, van der Veldt AAM, Hesselink DA
Background: In solid organ transplant (SOT) recipients, transplant rejection during immune checkpoint inhibitor (ICI) treatment for cancer is a clinical problem. Donor-derived cell-free DNA (dd-cfDNA) can be detected in blood and is a sensitive biomarker for diagnosis of acute rejection in SOT recipients. To our best knowledge, this is the first case report of a kidney transplant recipient with advanced cancer treated with ICI who was monitored with dd-cfDNA. Case presentation: A 72-year old fem...
Abstract
Cited 39 times since 2019 (6.2 per year)
source: EuropePMC
Heart (British Cardiac Society),
Volume 105, Issue 22, 10 2 2019, Pages 1732-1740
Progression of aortic root dilatation and aortic valve regurgitation after the arterial switch operation.
van der Palen RLF, van der Bom T, Dekker A, Tsonaka R, van Geloven N, Kuipers IM, Konings TC, Rammeloo LAJ, Ten Harkel ADJ, Jongbloed MRM, Koolbergen DR, Mulder BJM, Hazekamp MG, Blom NA
Objective: To study neo-aortic growth and the evolution of neo-aortic valve regurgitation (AR) in patients with transposition of the great arteries (TGA) after arterial switch operation (ASO) from newborn to adulthood and to identify patients at risk. Methods: Neo-aortic dimensions (annulus/root/sinotubular junction) and neo-aortic valve regurgitation were assessed serially in 345 patients with TGA who underwent ASO between 1977 and 2015. Linear mixed-effect models were used to assess increase o...
Abstract
