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Your search keyword '"Duijvenboden, Stefan van"' showing total 9 results
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9 results on '"Duijvenboden, Stefan van"'

2. Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.

Author

Thomas, Bjorn R, Tan, Xiang Li, Duijvenboden, Stefan Van, Hogan, Sarah C, Hughes, Aaron J, Tawfik, Soha S, Dhoat, Sasha, Atkar, Ravinder, Robinson, Elizabeth J, Rahman, Syedia R, Rahman, Samiha, Ahmed, Rehana A, Begum, Rubina, Khanam, Habiba, Bourne, Emma L, Wozniak, Eva L, Mein, Charles A, Kelsell, David P, and O'Toole, Edel A

Subjects
SOUTH Asians, ATOPIC dermatitis, FILAGGRIN, ECZEMA, EXPERIMENTAL design
Abstract

Background Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG). Objectives To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants. Methods A cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants. Results There were 506 complete cases available. Five palm patterns were noted. The 'prominent diamond' pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74–3.67], SH (ME 0.85, 95% CI 0.78–0.96) and TEWL (ME 1.32, 95% CI 1.11–1.62). Using five palm patterns had some ability to discriminate LoF FLG variants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91–80.73], improving to 77.99% (73.70–82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02–94.19). Conclusions This was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoF FLG variants, respectively. [ABSTRACT FROM AUTHOR]

Published
2023
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3. 9 Identification of thirty novel loci for cardiovascular magnetic resonance derived aortic distensibility in the UK Biobank

Author

Fung, Kenneth, primary, Biasiolli, Luca, additional, Hann, Evan, additional, Lukaschuk, Elena, additional, Ramírez, Julia, additional, Duijvenboden, Stefan van, additional, Aung, Nay, additional, Paiva, Jose M, additional, Sanghvi, Mihir M, additional, Thomson, Ross J, additional, Lee, Aaron M, additional, Piechnik, Stefan K, additional, Neubauer, Stefan, additional, Petersen, Steffen E, additional, and Munroe, Patricia B, additional

Published
2021
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4. Emerging evidence for a mechanistic link between low-frequency oscillation of ventricular repolarization measured from the electrocardiogram T-wave vector and arrhythmia

Author

Taggart, Peter, primary, Pueyo, Esther, additional, Duijvenboden, Stefan van, additional, Porter, Bradley, additional, Bishop, Martin, additional, Sampedro-Puente, David A, additional, Orini, M, additional, Hanson, B, additional, Rinaldi, Christopher A, additional, Gill, Jaswinder S, additional, and Lambiase, Pier, additional

Published
2021
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6. Complex Interaction Between Low-Frequency APD Oscillations and Beat-to-Beat APD Variability in Humans Is Governed by the Sympathetic Nervous System

Author

Duijvenboden, Stefan Van, primary, Porter, Bradley, additional, Pueyo, Esther, additional, Sampedro-Puente, David Adolfo, additional, Fernandez-Bes, Jesus, additional, Sidhu, Baldeep, additional, Gould, Justin, additional, Orini, Michele, additional, Bishop, Martin J., additional, Hanson, Ben, additional, Lambiase, Pier, additional, Razavi, Reza, additional, Rinaldi, Christopher A., additional, Gill, Jaswinder S., additional, and Taggart, Peter, additional

Published
2020
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7. Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system

Author

Ramírez, Julia, Duijvenboden, Stefan van, Ntalla, Ioanna, Mifsud, Borbala, Warren, Helen R, Tzanis, Evan, Orini, Michele, Tinker, Andrew, Lambiase, Pier D., and Munroe, Patricia B.

Subjects
Male, Science, Autonomic Nervous System, Polymorphism, Single Nucleotide, Article, Cardiovascular Diseases, Heart Rate, Risk Factors, Humans, lcsh:Q, Female, Genetic Predisposition to Disease, lcsh:Science, Exercise, Genome-Wide Association Study
Abstract

Impaired capacity to increase heart rate (HR) during exercise (ΔHRex), and a reduced rate of recovery post-exercise (ΔHRrec) are associated with higher cardiovascular mortality rates. Currently, the genetic basis of both phenotypes remains to be elucidated. We conduct genome-wide association studies (GWASs) for ΔHRex and ΔHRrec in ~40,000 individuals, followed by replication in ~27,000 independent samples, all from UK Biobank. Six and seven single-nucleotide polymorphisms for ΔHRex and ΔHRrec, respectively, formally replicate. In a full data set GWAS, eight further loci for ΔHRex and nine for ΔHRrec are genome-wide significant (P ≤ 5 × 10−8). In total, 30 loci are discovered, 8 being common across traits. Processes of neural development and modulation of adrenergic activity by the autonomic nervous system are enriched in these results. Our findings reinforce current understanding of HR response to exercise and recovery and could guide future studies evaluating its contribution to cardiovascular risk prediction., Genome-wide association studies have identified multiple loci for resting heart rate (HR) but the genetic factors associated with HR increase during and HR recovery after exercise are less well studied. Here, the authors examine both traits in a two-stage GWAS design in up to 67,257 individuals from UK Biobank.

Published
2018

8. Additional file 2: of Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Author

Prins, Bram, Mead, Timothy, Brody, Jennifer, Gardar Sveinbjornsson, Ntalla, Ioanna, Bihlmeyer, Nathan, Berg, Marten Van Den, Bork-Jensen, Jette, Cappellani, Stefania, Duijvenboden, Stefan Van, Klena, Nikolai, Gabriel, George, Xiaoqin Liu, Cagri Gulec, Grarup, Niels, Haessler, Jeffrey, Hall, Leanne, Iorio, Annamaria, Isaacs, Aaron, Ruifang Li-Gao, Honghuang Lin, Ching-Ti Liu, Leo-Pekka LyytikäInen, Marten, Jonathan, Mei, Hao, Mßller-Nurasyid, Martina, Orini, Michele, Sandosh Padmanabhan, Radmanesh, Farid, Ramirez, Julia, Robino, Antonietta, Schwartz, Molly, Setten, Jessica Van, Smith, Albert, Verweij, Niek, Warren, Helen, Weiss, Stefan, Alonso, Alvaro, Arnar, David, Bots, Michiel, Boer, Rudolf De, Dominiczak, Anna, Eijgelsheim, Mark, Ellinor, Patrick, Xiuqing Guo, Felix, Stephan, Harris, Tamara, Hayward, Caroline, Heckbert, Susan, Huang, Paul, J. Jukema, KäHÜnen, Mika, Kors, Jan, Lambiase, Pier, Launer, Lenore, Li, Man, Linneberg, Allan, Nelson, Christopher, Pedersen, Oluf, Perez, Marco, Peters, Annette, Polasek, Ozren, Psaty, Bruce, Raitakari, Olli, Rice, Kenneth, Rotter, Jerome, Sinner, Moritz, Elsayed Soliman, Spector, Tim, Strauch, Konstantin, Thorsteinsdottir, Unnur, Tinker, Andrew, Trompet, Stella, AndrÊ Uitterlinden, Vaartjes, Ilonca, Meer, Peter Van Der, VÜlker, Uwe, VÜlzke, Henry, Waldenberger, Melanie, Wilson, James, Zhijun Xie, Asselbergs, Folkert, DÜrr, Marcus, Duijn, Cornelia Van, Gasparini, Paolo, Gudbjartsson, Daniel, Gudnason, Vilmundur, Hansen, Torben, KääB, Stefan, JøRgen Kanters, Kooperberg, Charles, LehtimäKi, Terho, Lin, Henry, Lubitz, Steven, Mook-Kanamori, Dennis, Conti, Francesco, Newton-Cheh, Christopher, Rosand, Jonathan, Rudan, Igor, Nilesh Samani, Sinagra, Gianfranco, Smith, Blair, Holm, Hilma, Stricker, Bruno, Ulivi, Sheila, Sotoodehnia, Nona, Suneel Apte, Harst, Pim Van Der, Stefansson, Kari, Munroe, Patricia, Arking, Dan, Lo, Cecilia, and Yalda Jamshidi

Abstract

Figure S1. Manhattan plot for European and African-American ancestry single variant analysis. Figure S2. Quantile-quantile plot for European and African-American ancestry single variant analysis. Figure S3. Manhattan plot for EA single variant analysis. Figure S4. QQ plot for EA single variant analysis. Figure S5. Manhattan plot for AA single variant analysis. Figure S6. Quantile-quantile plot for AA single variant analysis. Figure S7. Miami plot European and African-American ancestry sex-stratified single variant analysis. Figure S8. Quantile-quantile plots for European and African-American ancestry sex-stratified single variant analyses. Figure S9. Normal morphology of adult Adamts6 heterozygous hearts. (DOCX 4290 kb)

Published
2018
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9. Emerging evidence for a mechanistic link between low-frequency oscillation of ventricular repolarization measured from the electrocardiogram T-wave vector and arrhythmia.

Author

Taggart P, Pueyo E, Duijvenboden SV, Porter B, Bishop M, Sampedro-Puente DA, Orini M, Hanson B, Rinaldi CA, Gill JS, and Lambiase P

Subjects
Action Potentials, Electrocardiography, Heart Ventricles, Humans, Arrhythmias, Cardiac diagnosis, Myocardial Infarction
Abstract

Strong recent clinical evidence links the presence of prominent oscillations of ventricular repolarization in the low-frequency range (0.04-0.15 Hz) to the incidence of ventricular arrhythmia and sudden death in post-MI patients and patients with ischaemic and non-ischaemic cardiomyopathy. It has been proposed that these oscillations reflect oscillations of ventricular action potential duration at the sympathetic nerve frequency. Here we review emerging evidence to support that contention and provide insight into possible underlying mechanisms for this association., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Published
2021
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