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  1. Article ; Online: A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers.

    de Brouwer, Remco / Te Rijdt, Wouter P / Hoorntje, Edgar T / Amin, Ahmad / Asselbergs, Folkert W / Cox, Moniek G P J / van der Heijden, Jeroen F / Hillege, Hans / Karper, Jacco C / Mahmoud, Belend / van der Meer, Peter / Oomen, Anton / Te Riele, Anneline S J M / Silljé, Herman H W / Tan, Hanno L / van Tintelen, Jan Peter / van Veldhuisen, Dirk J / Westenbrink, Berend Daan / Wiesfeld, Ans C P /
    Willems, Tineke P / van der Zwaag, Paul A / Wilde, Arthur A M / de Boer, Rudolf A / van den Berg, Maarten P

    European heart journal

    2023  Volume 44, Issue 40, Page(s) 4284–4287

    Language English
    Publishing date 2023-05-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 603098-1
    ISSN 1522-9645 ; 0195-668X
    ISSN (online) 1522-9645
    ISSN 0195-668X
    DOI 10.1093/eurheartj/ehad292
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  2. Article: Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.

    van Lint, Freyja H M / Hassanzada, Fahima / Verstraelen, Tom E / Wang, Weijia / Bosman, Laurens P / van der Zwaag, Paul A / Oomen, Toon / Calkins, Hugh / Murray, Brittney / Tichnell, Crystal / Beuren, Thais M A / Asselbergs, Folkert W / Houweling, Arjan / van den Berg, Maarten P / Wilde, Arthur A M / James, Cynthia A / van Tintelen, J Peter

    Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

    2023  Volume 31, Issue 7-8, Page(s) 291–299

    Abstract: ... Individuals with the pathogenic c.40_42del; p.(Arg14del) variant in the PLN gene are frequently diagnosed ... in PLN p.(Arg14del) carriers.: Methods: In total, 207 adult PLN p.(Arg14del) carriers (39.1% male ... p = 0.974) and hospitalisation for HF (9.6% vs 8.7%; p = 0.827). There was no relationship between ...

    Abstract Background: Endurance and frequent exercise are associated with earlier onset of arrhythmogenic right ventricular cardiomyopathy (ARVC) and ventricular arrhythmias (VA) in desmosomal gene variant carriers. Individuals with the pathogenic c.40_42del; p.(Arg14del) variant in the PLN gene are frequently diagnosed with ARVC or dilated cardiomyopathy (DCM). The aim of this study was to evaluate the effect of exercise in PLN p.(Arg14del) carriers.
    Methods: In total, 207 adult PLN p.(Arg14del) carriers (39.1% male; mean age 53 ± 15 years) were interviewed on their regular physical activity since the age of 10 years. The association of exercise with diagnosis of ARVC, DCM, sustained VA and hospitalisation for heart failure (HF) was studied.
    Results: Individuals participated in regular physical activities with a median of 1661 metabolic equivalent of task (MET) hours per year (31.9 MET-hours per week) until clinical presentation. The 50% most and least active individuals had a similar frequency of sustained VA (18.3% vs 18.4%; p = 0.974) and hospitalisation for HF (9.6% vs 8.7%; p = 0.827). There was no relationship between exercise and survival free from (incident) sustained VA (p = 0.65), hospitalisation for HF (p = 0.81), diagnosis of ARVC (p = 0.67) or DCM (p = 0.39) during follow-up. In multivariate analyses, exercise was not associated with sustained VA or HF hospitalisation during follow-up in this relatively not-active cohort.
    Conclusion: There was no association between the amount of exercise and the susceptibility to develop ARVC, DCM, VA or HF in PLN p.(Arg14del) carriers. This suggested unaffected PLN p.(Arg14del) carriers can safely perform mild-moderate exercise, in contrast to desmosomal variant carriers and ARVC patients.
    Language English
    Publishing date 2023-07-20
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2211468-3
    ISSN 1876-6250 ; 1568-5888 ; 0929-7456
    ISSN (online) 1876-6250
    ISSN 1568-5888 ; 0929-7456
    DOI 10.1007/s12471-023-01800-4
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  3. Article ; Online: Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.

    van der Heide, Myrthe Y C / Verstraelen, Tom E / van Lint, Freyja H M / Bosman, Laurens P / de Brouwer, Remco / Proost, Virginnio M / van Drie, Esmée / Taha, Karim / Zwinderman, Aeilko H / Dickhoff, Cathelijne / Schoonderwoerd, Bas A / Germans, Tjeerd / Houweling, Arjan C / Gimeno-Blanes, Juan R / van der Zwaag, Paul A / de Boer, Rudolf A / Cox, Moniek G P J / van Tintelen, J Peter / Wilde, Arthur A M

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

    2024  Volume 26, Issue 4

    Abstract: Aims: Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del ... performance of the PLN p.(Arg14del) risk model at 3-year follow-up.: Methods and results: We performed ... collected of 268 PLN p.(Arg14del)-positive subjects, aged 43.5 ± 16.3 years, 38.9% male. After the 3 years ...

    Abstract Aims: Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del)-positive individuals was developed to predict individual major ventricular arrhythmia (VA) risk to support decision-making for primary prevention implantable cardioverter defibrillator (ICD) implantation. This model predicts major VA risk from baseline data, but iterative evaluation of major VA risk may be warranted considering that the risk factors for major VA are progressive. Our aim is to evaluate the diagnostic performance of the PLN p.(Arg14del) risk model at 3-year follow-up.
    Methods and results: We performed a landmark analysis 3 years after presentation and selected only patients with no prior major VA. Data were collected of 268 PLN p.(Arg14del)-positive subjects, aged 43.5 ± 16.3 years, 38.9% male. After the 3 years landmark, subjects had a mean follow-up of 4.0 years (± 3.5 years) and 28 (10%) subjects experienced major VA with an annual event rate of 2.6% [95% confidence interval (CI) 1.6-3.6], defined as sustained VA, appropriate ICD intervention, or (aborted) sudden cardiac death. The PLN p.(Arg14del) risk score yielded good discrimination in the 3 years landmark cohort with a C-statistic of 0.83 (95% CI 0.79-0.87) and calibration slope of 0.97.
    Conclusion: The PLN p.(Arg14del) risk model has sustained good model performance up to 3 years follow-up in PLN p.(Arg14del)-positive subjects with no history of major VA. It may therefore be used to support decision-making for primary prevention ICD implantation not merely at presentation but also up to at least 3 years of follow-up.
    MeSH term(s) Female ; Humans ; Male ; Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/therapy ; Calcium-Binding Proteins/genetics ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Defibrillators, Implantable ; Reproducibility of Results ; Risk Factors ; Adult ; Middle Aged
    Chemical Substances Calcium-Binding Proteins ; phospholamban
    Language English
    Publishing date 2024-04-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1449879-0
    ISSN 1532-2092 ; 1099-5129
    ISSN (online) 1532-2092
    ISSN 1099-5129
    DOI 10.1093/europace/euae069
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  4. Article: MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.

    Marsili, Luisa / van Lint, Freyja H M / Russo, Francesco / van Spaendonck-Zwarts, Karin Y / Ader, Flavie / Bichon, Marie-Line / Faivre, Laurence / Houweling, Arjan C / Isidor, Bertrand / Lekanne Deprez, Ronald H / Cox, Moniek G P J / Wilde, Arthur A M / Mazel, Benoit / Mercier, Sandra / Dooijes, Dennis / Millat, Gilles / Nguyen, Karine / Post, Jan G / Richard, Pascale /
    van de Beek, Irma / Vermeer, Alexa M C / Boven, Ludolf / Jongbloed, Jan D H / van Tintelen, J Peter

    Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

    2023  Volume 31, Issue 7-8, Page(s) 300–307

    Abstract: Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients ... individuals carried the MYH7 p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed ... a founder effect in a subset of patients.: Conclusion: MYH7 p.(Arg1712Gln) is a pathogenic founder variant ...

    Abstract Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated phenotype and evaluate a potential founder effect.
    Methods: We retrospectively collected clinical and genetic data of 22 probands and 74 family members from an international cohort.
    Results: In total, 53 individuals carried the MYH7 p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM). Mean age at HCM diagnosis was 48.8 years (standard deviation: 18.1; range: 8-74). The clinical presentation ranged from asymptomatic HCM to arrhythmias (atrial fibrillation and malignant ventricular arrhythmias). Aborted sudden cardiac death (SCD) leading to the diagnosis of HCM occurred in one proband at the age of 68 years, and a family history of SCD was reported by 39% (5/13) probands. Neither heart failure deaths nor heart transplants were reported. Women had a generally later-onset disease, with 14% of female carriers diagnosed with HCM at age 50 years compared with 54% of male carriers. In both sexes, the disease was fully penetrant by age 75 years. Haplotypes were reconstructed for 35 patients and showed a founder effect in a subset of patients.
    Conclusion: MYH7 p.(Arg1712Gln) is a pathogenic founder variant with a consistent HCM phenotype that may present with delayed penetrance. This suggested that clinical follow-up should be pursued after the seventh decade in healthy carriers and that longer intervals between screening may be justified in healthy women < 30 years.
    Language English
    Publishing date 2023-07-24
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2211468-3
    ISSN 1876-6250 ; 1568-5888 ; 0929-7456
    ISSN (online) 1876-6250
    ISSN 1568-5888 ; 0929-7456
    DOI 10.1007/s12471-023-01798-9
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  5. Article ; Online: Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.

    Verstraelen, Tom E / van Lint, Freyja H M / Bosman, Laurens P / de Brouwer, Remco / Proost, Virginnio M / Abeln, Bob G S / Taha, Karim / Zwinderman, Aeilko H / Dickhoff, Cathelijne / Oomen, Toon / Schoonderwoerd, Bas A / Kimman, Gerardus P / Houweling, Arjan C / Gimeno-Blanes, Juan R / Asselbergs, Folkert W / van der Zwaag, Paul A / de Boer, Rudolf A / van den Berg, Maarten P / van Tintelen, J Peter /
    Wilde, Arthur A M

    European heart journal

    2021  Volume 42, Issue 29, Page(s) 2842–2850

    Abstract: ... ventricular arrhythmia (VA) in phospholamban (PLN) p.Arg14del mutation carriers. The proposed model is ... compared to an existing PLN risk model.: Methods and results: Data were collected from PLN p.Arg14del ... A prediction model was developed using Cox regression. The study cohort consisted of 679 PLN p.Arg14del mutation ...

    Abstract Aims: This study aims to improve risk stratification for primary prevention implantable cardioverter defibrillator (ICD) implantation by developing a new mutation-specific prediction model for malignant ventricular arrhythmia (VA) in phospholamban (PLN) p.Arg14del mutation carriers. The proposed model is compared to an existing PLN risk model.
    Methods and results: Data were collected from PLN p.Arg14del mutation carriers with no history of malignant VA at baseline, identified between 2009 and 2020. Malignant VA was defined as sustained VA, appropriate ICD intervention, or (aborted) sudden cardiac death. A prediction model was developed using Cox regression. The study cohort consisted of 679 PLN p.Arg14del mutation carriers, with a minority of index patients (17%) and male sex (43%), and a median age of 42 years [interquartile range (IQR) 27-55]. During a median follow-up of 4.3 years (IQR 1.7-7.4), 72 (10.6%) carriers experienced malignant VA. Significant predictors were left ventricular ejection fraction, premature ventricular contraction count/24 h, amount of negative T waves, and presence of low-voltage electrocardiogram. The multivariable model had an excellent discriminative ability {C-statistic 0.83 [95% confidence interval (CI) 0.78-0.88]}. Applying the existing PLN risk model to the complete cohort yielded a C-statistic of 0.68 (95% CI 0.61-0.75).
    Conclusion: This new mutation-specific prediction model for individual VA risk in PLN p.Arg14del mutation carriers is superior to the existing PLN risk model, suggesting that risk prediction using mutation-specific phenotypic features can improve accuracy compared to a more generic approach.
    MeSH term(s) Adult ; Arrhythmias, Cardiac/genetics ; Calcium-Binding Proteins/genetics ; Death, Sudden, Cardiac/etiology ; Defibrillators, Implantable ; Female ; Humans ; Male ; Mutation ; Risk Factors ; Stroke Volume ; Ventricular Function, Left
    Chemical Substances Calcium-Binding Proteins ; phospholamban
    Language English
    Publishing date 2021-05-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603098-1
    ISSN 1522-9645 ; 0195-668X
    ISSN (online) 1522-9645
    ISSN 0195-668X
    DOI 10.1093/eurheartj/ehab294
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  6. Article ; Online: Relaxation dynamics of Pd-Ni-P metallic glass: decoupling of anelastic and viscous processes.

    Soriano, Daniel / Zhou, Hongbo / Hilke, Sven / Pineda, Eloi / Ruta, Beatrice / Wilde, Gerhard

    Journal of physics. Condensed matter : an Institute of Physics journal

    2021  Volume 33, Issue 16

    Abstract: The stress relaxation dynamics of metallic glass ... ...

    Abstract The stress relaxation dynamics of metallic glass Pd
    Language English
    Publishing date 2021-04-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 1472968-4
    ISSN 1361-648X ; 0953-8984
    ISSN (online) 1361-648X
    ISSN 0953-8984
    DOI 10.1088/1361-648X/abef27
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  7. Article ; Online: Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene.

    Li, Wener / Henze, Sarah / Luo, Xiaojing / Ulbricht, Ying / Richter, Anja / Di Donato, Nataliya / Wilde, Arthur A M / Guan, Kaomei

    Stem cell research

    2021  Volume 53, Page(s) 102259

    Abstract: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inheritable cardiac disorder, which is characterized by life-threatening cardiac arrhythmias, syncope, seizures, or sudden cardiac death in response to physical exercise or ... ...

    Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inheritable cardiac disorder, which is characterized by life-threatening cardiac arrhythmias, syncope, seizures, or sudden cardiac death in response to physical exercise or emotional stress. This inherited disease is predominantly caused by mutations in the ryanodine receptor type 2 (RYR2). To minimize the cell line variations for disease modeling, we generated two induced pluripotency stem cell lines (hiPSCs: isCPVT
    MeSH term(s) Humans ; Induced Pluripotent Stem Cells ; Mutation/genetics ; Ryanodine Receptor Calcium Release Channel/genetics ; Tachycardia, Ventricular/genetics
    Chemical Substances Ryanodine Receptor Calcium Release Channel
    Language English
    Publishing date 2021-02-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2021.102259
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  8. Article ; Online: Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging.

    Te Rijdt, Wouter P / Ten Sande, Judith N / Gorter, Thomas M / van der Zwaag, Paul A / van Rijsingen, Ingrid A / Boekholdt, S Matthijs / van Tintelen, J Peter / van Haelst, Paul L / Planken, R Nils / de Boer, Rudolf A / Suurmeijer, Albert J H / van Veldhuisen, Dirk J / Wilde, Arthur A M / Willems, Tineke P / van Dessel, Pascal F H M / van den Berg, Maarten P

    European heart journal cardiovascular Imaging

    2018  Volume 20, Issue 1, Page(s) 92–100

    Abstract: Aims: The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated ... with ECG features and VA in PLN p.Arg14del mutation carriers.: Methods and results: Cardiovascular ... Carriers with inverted T-waves in the lateral ECG leads more often had LV-LGE (P < 0.01) than carriers ...

    Abstract Aims: The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure. It has been shown to lead to calcium overload, cardiomyocyte damage, and eventually to myocardial fibrosis. This study sought to investigate ventricular function, the extent and localization of myocardial fibrosis and the associations with ECG features and VA in PLN p.Arg14del mutation carriers.
    Methods and results: Cardiovascular magnetic resonance (CMR) data of 150 mutation carriers were analysed retrospectively. Left ventricular (LV) and right ventricular (RV) volumes, mass, and ejection fraction were measured. The extent of late gadolinium enhancement (LGE) was expressed as a percentage of myocardial mass. All standard ECG parameters were measured. Occurrence of VA was analysed on ambulatory 24-h and/or exercise electrocardiography, if available. Mean age was 40 ± 15 years, 42% males, and 7% were index patients while 93% were pre-symptomatic carriers identified after family cascade screening. Mean LV ejection fraction (LVEF) and RV ejection fraction were 58 ± 9% and 55 ± 9%, respectively. LV-LGE was present in 91% of mutation carriers with reduced LVEF (<45%) and in 30% of carriers with preserved LVEF. In carriers with positive LV-LGE, its median extent was 5.9% (interquartile range 3.2-12.7). LGE was mainly observed in the inferolateral wall. Carriers with inverted T-waves in the lateral ECG leads more often had LV-LGE (P < 0.01) than carriers without. Finally, the presence of LV-LGE, but not attenuated R-waves and inverted lateral T-waves, was independently associated with VA.
    Conclusion: LV myocardial fibrosis is present in many PLN p.Arg14del mutation carriers, and who still have a preserved LVEF. It is seen predominantly in the LV inferolateral wall and corresponds with electrocardiographic repolarization abnormalities. Although preliminary, myocardial fibrosis was found to be independently associated with VA. Our findings support the use of CMR with LGE early in the diagnostic work-up.
    MeSH term(s) Adult ; Calcium-Binding Proteins/genetics ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/genetics ; Contrast Media ; Electrocardiography ; Female ; Fibrosis/pathology ; Genetic Predisposition to Disease ; Humans ; Image Interpretation, Computer-Assisted ; Magnetic Resonance Imaging, Cine/methods ; Male ; Meglumine ; Middle Aged ; Mutation ; Myocardium/pathology ; Netherlands ; Organometallic Compounds ; Phenotype ; Retrospective Studies ; Tachycardia, Ventricular/diagnostic imaging ; Tachycardia, Ventricular/genetics ; Ventricular Dysfunction, Left/diagnostic imaging ; Ventricular Dysfunction, Left/genetics
    Chemical Substances Calcium-Binding Proteins ; Contrast Media ; Organometallic Compounds ; phospholamban ; Meglumine (6HG8UB2MUY) ; gadoterate meglumine (L0ND3981AG)
    Language English
    Publishing date 2018-04-09
    Publishing country England
    Document type Journal Article ; Multicenter Study
    ZDB-ID 2638345-7
    ISSN 2047-2412 ; 2047-2404
    ISSN (online) 2047-2412
    ISSN 2047-2404
    DOI 10.1093/ehjci/jey047
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  9. Article ; Online: Improving electrocardiogram-based detection of rare genetic heart disease using transfer learning: An application to phospholamban p.Arg14del mutation carriers.

    Lopes, Ricardo R / Bleijendaal, Hidde / Ramos, Lucas A / Verstraelen, Tom E / Amin, Ahmad S / Wilde, Arthur A M / Pinto, Yigal M / de Mol, Bas A J M / Marquering, Henk A

    Computers in biology and medicine

    2021  Volume 131, Page(s) 104262

    Abstract: The pathogenic mutation p.Arg14del in the gene encoding Phospholamban (PLN) is known to cause ...

    Abstract The pathogenic mutation p.Arg14del in the gene encoding Phospholamban (PLN) is known to cause cardiomyopathy and leads to increased risk of sudden cardiac death. Automatic tools might improve the detection of patients with this rare disease. Deep learning is currently the state-of-the-art in signal processing but requires large amounts of data to train the algorithms. In situations with relatively small amounts of data, like PLN, transfer learning may improve accuracy. We propose an ECG-based detection of the PLN mutation using transfer learning from a model originally trained for sex identification. The sex identification model was trained with 256,278 ECGs and subsequently finetuned for PLN detection (155 ECGs of patients with PLN) with two control groups: a balanced age/sex matched group and a randomly selected imbalanced population. The data was split in 10 folds and 20% of the training data was used for validation and early stopping. The models were evaluated with the area under the receiver operating characteristic curve (AUROC) of the testing data. We used gradient activation for explanation of the prediction models. The models trained with transfer learning outperformed the models trained from scratch for both the balanced (AUROC 0.87 vs AUROC 0.71) and imbalanced (AUROC 0.0.90 vs AUROC 0.65) population. The proposed approach was able to improve the accuracy of a rare disease detection model by transfer learning information from a non-manual annotated and abundant label with only limited data available.
    MeSH term(s) Calcium-Binding Proteins ; Electrocardiography ; Heart Diseases ; Humans ; Machine Learning ; Mutation ; Rare Diseases
    Chemical Substances Calcium-Binding Proteins ; phospholamban
    Language English
    Publishing date 2021-02-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 127557-4
    ISSN 1879-0534 ; 0010-4825
    ISSN (online) 1879-0534
    ISSN 0010-4825
    DOI 10.1016/j.compbiomed.2021.104262
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  10. Article ; Online: Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?

    Bleijendaal, Hidde / Ramos, Lucas A / Lopes, Ricardo R / Verstraelen, Tom E / Baalman, Sarah W E / Oudkerk Pool, Marinka D / Tjong, Fleur V Y / Melgarejo-Meseguer, Francisco M / Gimeno-Blanes, F Javier / Gimeno-Blanes, Juan R / Amin, Ahmad S / Winter, Michiel M / Marquering, Henk A / Kok, Wouter E M / Zwinderman, Aeilko H / Wilde, Arthur A M / Pinto, Yigal M

    Heart rhythm

    2020  Volume 18, Issue 1, Page(s) 79–87

    Abstract: Background: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or ... We aimed to develop machine learning and deep learning models to diagnose PLN p.Arg14del cardiomyopathy ... an external PLN p.Arg14del mutation carrier data set from Murcia, Spain (n = 50). We applied occlusion maps ...

    Abstract Background: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool used in ECG analysis and has shown to outperform cardiologists.
    Objectives: We aimed to develop machine learning and deep learning models to diagnose PLN p.Arg14del cardiomyopathy using ECGs and evaluate their accuracy compared to an expert cardiologist.
    Methods: We included 155 adult PLN mutation carriers and 155 age- and sex-matched control subjects. Twenty-one PLN mutation carriers (13.4%) were classified as symptomatic (symptoms of heart failure or malignant ventricular arrhythmias). The data set was split into training and testing sets using 4-fold cross-validation. Multiple models were developed to discriminate between PLN mutation carriers and control subjects. For comparison, expert cardiologists classified the same data set. The best performing models were validated using an external PLN p.Arg14del mutation carrier data set from Murcia, Spain (n = 50). We applied occlusion maps to visualize the most contributing ECG regions.
    Results: In terms of specificity, expert cardiologists (0.99) outperformed all models (range 0.53-0.81). In terms of accuracy and sensitivity, experts (0.28 and 0.64) were outperformed by all models (sensitivity range 0.65-0.81). T-wave morphology was most important for classification of PLN p.Arg14del carriers. External validation showed comparable results, with the best model outperforming experts.
    Conclusion: This study shows that machine learning can outperform experienced cardiologists in the diagnosis of PLN p.Arg14del cardiomyopathy and suggests that the shape of the T wave is of added importance to this diagnosis.
    MeSH term(s) Adolescent ; Adult ; Algorithms ; Arrhythmogenic Right Ventricular Dysplasia/diagnosis ; Arrhythmogenic Right Ventricular Dysplasia/genetics ; Arrhythmogenic Right Ventricular Dysplasia/physiopathology ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; Cardiologists/standards ; Clinical Competence ; Computers ; DNA/genetics ; DNA Mutational Analysis ; Electrocardiography ; Female ; Humans ; Machine Learning ; Male ; Middle Aged ; Mutation ; Phenotype ; Reproducibility of Results ; Retrospective Studies ; Young Adult
    Chemical Substances Calcium-Binding Proteins ; phospholamban ; DNA (9007-49-2)
    Language English
    Publishing date 2020-09-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2229357-7
    ISSN 1556-3871 ; 1547-5271
    ISSN (online) 1556-3871
    ISSN 1547-5271
    DOI 10.1016/j.hrthm.2020.08.021
    Database MEDical Literature Analysis and Retrieval System OnLINE

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