The Experts below are selected from a list of 312 Experts worldwide ranked by ideXlab platform
Adrian Baranchuk - One of the best experts on this subject based on the ideXlab platform.
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Brugada Phenocopy in a patient with unstable angina and three-vessel coronary artery disease.
Journal of cardiovascular electrophysiology, 2021Co-Authors: Gavino Casu, Paola Berne, Graziana Viola, Stefano Bandino, Adrian BaranchukAbstract:A 52-year-old male was admitted with unstable angina and three-vessel coronary artery disease. Electrocardiography (ECG) changes consistent with type-1 Brugada ECG pattern were noted during admission. The patient was asymptomatic for syncope and had no family history of sudden cardiac death, ICD implantation, and Brugada syndrome. After coronary by-pass graft the Brugada ECG pattern resolved, and ajmaline test did not elicit type-1 ECG pattern, confirming the suspicion of Brugada Phenocopy.
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Brugada Phenocopy associated with left ventricular aneurysm.
Journal of electrocardiology, 2018Co-Authors: Enes Elvin Gul, Sohaib Haseeb, Osama Al Amoudi, Adrian BaranchukAbstract:Abstract Brugada phenocopies (BrP) are clinical entities that are characterized by ECG patterns identical to those of Brugada syndrome, but are the result of various clinical conditions. We describe the case of a 41-year-old male who exhibited BrP due to a left ventricular aneurysm in the context of chronic coronary artery disease.
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brugada Phenocopy during right coronary artery dissection
Journal of Electrocardiology, 2017Co-Authors: Aldo G. Carrizo, Anahi Goransky, Adrian BaranchukAbstract:Abstract Case presentation A 68-year-old female presented with non-ST-segment elevation myocardial infarction, and urgency coronary angiography was performed. The procedure was complicated with right coronary artery dissection leading to type-1 Brugada ECG pattern. Discussion Brugada phenocopies (BrP) are clinical entities that present with electrocardiograms identical to those found in Brugada Syndrome (BrS) but are the result of different medical conditions. This report provides evidence that atypical causes of myocardial ischemia may induce BrP. Appropriate electrocardiogram and clinical differentiation of Brugada Phenocopy from true Brugada syndrome may prevent unnecessary treatments. Although patients with true high-risk BrS are candidates for ICD therapy, the natural history of BrP remains unknown and seems to be more benign, depending on the severity of the underlying condition.
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Brugada Phenocopy during right coronary artery dissection.
Journal of electrocardiology, 2017Co-Authors: Aldo G. Carrizo, Anahi Goransky, Adrian BaranchukAbstract:A 68-year-old female presented with non-ST-segment elevation myocardial infarction, and urgency coronary angiography was performed. The procedure was complicated with right coronary artery dissection leading to type-1 Brugada ECG pattern. Brugada phenocopies (BrP) are clinical entities that present with electrocardiograms identical to those found in Brugada Syndrome (BrS) but are the result of different medical conditions. This report provides evidence that atypical causes of myocardial ischemia may induce BrP. Appropriate electrocardiogram and clinical differentiation of Brugada Phenocopy from true Brugada syndrome may prevent unnecessary treatments. Although patients with true high-risk BrS are candidates for ICD therapy, the natural history of BrP remains unknown and seems to be more benign, depending on the severity of the underlying condition. Copyright © 2017 Elsevier Inc. All rights reserved.
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Brugada syndrome, Brugada Phenocopy or none?
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology Inc, 2017Co-Authors: Umut Kocabaş, Can Hasdemir, Esra Kaya, Cuneyt Turkoglu, Adrian BaranchukAbstract:Brugada syndrome is a form of inherited arrhythmia syndrome characterized by a distinct ST-segment elevation in the right precordial leads. Brugada phenocopies are clinical entities that present with an electrocardiographic pattern identical to Brugada syndrome and may obey to various clinical conditions. We present a case of a suicidal attempt using a high dose of propafenone causing a Brugada-type electrocardiographic pattern. Is this a Brugada syndrome case, a Brugada Phenocopy or something else?
Armin Heckel - One of the best experts on this subject based on the ideXlab platform.
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Phenocopy – A Strategy to Qualify Chemical Compounds during Hit-to-Lead and/or Lead Optimization
PloS one, 2010Co-Authors: Patrick Baum, Ramona Schmid, Carina Ittrich, Werner Rust, Katrin Fundel-clemens, Susanne Siewert, Martin Baur, Lisa Mara, Lore Gruenbaum, Armin HeckelAbstract:A Phenocopy is defined as an environmentally induced phenotype of one individual which is identical to the genotype-determined phenotype of another individual. The Phenocopy phenomenon has been translated to the drug discovery process as phenotypes produced by the treatment of biological systems with new chemical entities (NCE) may resemble environmentally induced phenotypic modifications. Various new chemical entities exerting inhibition of the kinase activity of Transforming Growth Factor β Receptor I (TGF-βR1) were qualified by high-throughput RNA expression profiling. This chemical genomics approach resulted in a precise time-dependent insight to the TGF-β biology and allowed furthermore a comprehensive analysis of each NCE's off-target effects. The evaluation of off-target effects by the Phenocopy approach allows a more accurate and integrated view on optimized compounds, supplementing classical biological evaluation parameters such as potency and selectivity. It has therefore the potential to become a novel method for ranking compounds during various drug discovery phases.
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Phenocopy a strategy to qualify chemical compounds during hit to lead and or lead optimization
PLOS ONE, 2010Co-Authors: Patrick Baum, Ramona Schmid, Carina Ittrich, Werner Rust, Susanne Siewert, Martin Baur, Lisa Mara, Lore Gruenbaum, Katrin Fundelclemens, Armin HeckelAbstract:A Phenocopy is defined as an environmentally induced phenotype of one individual which is identical to the genotype-determined phenotype of another individual. The Phenocopy phenomenon has been translated to the drug discovery process as phenotypes produced by the treatment of biological systems with new chemical entities (NCE) may resemble environmentally induced phenotypic modifications. Various new chemical entities exerting inhibition of the kinase activity of Transforming Growth Factor β Receptor I (TGF-βR1) were qualified by high-throughput RNA expression profiling. This chemical genomics approach resulted in a precise time-dependent insight to the TGF-β biology and allowed furthermore a comprehensive analysis of each NCE's off-target effects. The evaluation of off-target effects by the Phenocopy approach allows a more accurate and integrated view on optimized compounds, supplementing classical biological evaluation parameters such as potency and selectivity. It has therefore the potential to become a novel method for ranking compounds during various drug discovery phases.
Randall T. Peterson - One of the best experts on this subject based on the ideXlab platform.
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15 years of zebrafish chemical screening
Current Opinion in Chemical Biology, 2015Co-Authors: Andrew J. Rennekamp, Randall T. PetersonAbstract:In 2000, the first chemical screen using living zebrafish in a multi-well plate was reported. Since then, more than 60 additional screens have been published describing whole-organism drug and pathway discovery projects in zebrafish. To investigate the scope of the work reported in the last 14 years and to identify trends in the field, we analyzed the discovery strategies of 64 primary research articles from the literature. We found that zebrafish screens have expanded beyond the use of developmental phenotypes to include behavioral, cardiac, metabolic, proliferative and regenerative endpoints. Additionally, many creative strategies have been used to uncover the mechanisms of action of new small molecules including chemical Phenocopy, genetic Phenocopy, mutant rescue, and spatial localization strategies.
Rozanna Meijboom - One of the best experts on this subject based on the ideXlab platform.
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qualitative assessment of longitudinal changes in Phenocopy frontotemporal dementia
Frontiers in Neurology, 2019Co-Authors: Rebecca M E Steketee, Rozanna Meijboom, Esther E Bron, Lize C Jiskoot, Aad Van Der Lugt, John C Van Swieten, Marion SmitsAbstract:Phenocopy frontotemporal dementia (phFTD) shares core characteristics with behavioral variant frontotemporal dementia (bvFTD), yet without associated cognitive deficits and brain abnormalities on conventional magnetic resonance imaging (MRI), and without progression. Using advanced MRI techniques, we previously observed subtle structural and functional brain changes in phFTD similar to bvFTD. The aim of the current study was to follow these as well as cognition in phFTD over time, by means of a descriptive case series. Cognition, gray matter (GM) volume and white matter (WM) microstructure, and perfusion of 6 phFTD patients were qualitatively compared longitudinally (3-years follow-up), and cross-sectionally with baseline data from 9 bvFTD patients and 17 controls. For functional brain changes, arterial spin labeling (ASL) was performed to assess GM perfusion. For structural brain changes, diffusion tensor imaging was performed to assess WM microstructure and T1w imaging to assess GM volume. MRI acquisition was performed at 3T (General Electric, US). Clinical profiles of phFTD cases at follow-up are described. At follow-up phFTD patients showed clinical symptomatology similar to bvFTD, but had a relatively stable clinical profile. Longitudinal qualitative comparisons in phFTD showed some deterioration of language and memory function, a stable pattern of structural brain abnormalities and increased perfusion over time. Additionally, both baseline and follow-up cognitive scores and structural values in phFTD were generally in between those of controls and bvFTD. Although a descriptive case series does not allow for strong conclusions, these observations in a unique longitudinal phFTD patient cohort are suggestive of the notion that phFTD and bvFTD may belong to the same disease spectrum. They may also provide a basis for further longitudinal studies in phFTD, specifically exploring the structural vs. functional brain changes. Such studies are essential for improved insight, accurate diagnosis, and appropriate treatment of phFTD.
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functional connectivity and microstructural white matter changes in Phenocopy frontotemporal dementia
European Radiology, 2017Co-Authors: Rozanna Meijboom, Rebecca M E Steketee, Robert Jan Osse, Inge De Koning, Lize C Jiskoot, Frank Jan De Jong, Aad Van Der Lugt, John C Van Swieten, Marion SmitsAbstract:Objectives Phenocopy frontotemporal dementia (phFTD) is a rare and poorly understood clinical syndrome. PhFTD shows core behavioural variant FTD (bvFTD) symptoms without associated cognitive deficits and brain abnormalities on conventional MRI and without progression. In contrast to phFTD, functional connectivity and white matter (WM) microstructural abnormalities have been observed in bvFTD. We hypothesise that phFTD belongs to the same disease spectrum as bvFTD and investigated whether functional connectivity and microstructural WM changes similar to bvFTD are present in phFTD.
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structural and functional brain abnormalities place Phenocopy frontotemporal dementia ftd in the ftd spectrum
NeuroImage: Clinical, 2016Co-Authors: Rebecca M E Steketee, Rozanna Meijboom, Esther E Bron, Robert Jan Osse, Inge De Koning, Lize C Jiskoot, Stefan Klein, Frank Jan De Jong, Aad Van Der Lugt, John C Van SwietenAbstract:Purpose ‘Phenocopy’ frontotemporal dementia (phFTD) patients may clinically mimic the behavioral variant of FTD (bvFTD), but do not show functional decline or abnormalities upon visual inspection of routine neuroimaging. We aimed to identify abnormalities in gray matter (GM) volume and perfusion in phFTD and to assess whether phFTD belongs to the FTD spectrum. We compared phFTD patients with both healthy controls and bvFTD patients.
Lize C Jiskoot - One of the best experts on this subject based on the ideXlab platform.
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qualitative assessment of longitudinal changes in Phenocopy frontotemporal dementia
Frontiers in Neurology, 2019Co-Authors: Rebecca M E Steketee, Rozanna Meijboom, Esther E Bron, Lize C Jiskoot, Aad Van Der Lugt, John C Van Swieten, Marion SmitsAbstract:Phenocopy frontotemporal dementia (phFTD) shares core characteristics with behavioral variant frontotemporal dementia (bvFTD), yet without associated cognitive deficits and brain abnormalities on conventional magnetic resonance imaging (MRI), and without progression. Using advanced MRI techniques, we previously observed subtle structural and functional brain changes in phFTD similar to bvFTD. The aim of the current study was to follow these as well as cognition in phFTD over time, by means of a descriptive case series. Cognition, gray matter (GM) volume and white matter (WM) microstructure, and perfusion of 6 phFTD patients were qualitatively compared longitudinally (3-years follow-up), and cross-sectionally with baseline data from 9 bvFTD patients and 17 controls. For functional brain changes, arterial spin labeling (ASL) was performed to assess GM perfusion. For structural brain changes, diffusion tensor imaging was performed to assess WM microstructure and T1w imaging to assess GM volume. MRI acquisition was performed at 3T (General Electric, US). Clinical profiles of phFTD cases at follow-up are described. At follow-up phFTD patients showed clinical symptomatology similar to bvFTD, but had a relatively stable clinical profile. Longitudinal qualitative comparisons in phFTD showed some deterioration of language and memory function, a stable pattern of structural brain abnormalities and increased perfusion over time. Additionally, both baseline and follow-up cognitive scores and structural values in phFTD were generally in between those of controls and bvFTD. Although a descriptive case series does not allow for strong conclusions, these observations in a unique longitudinal phFTD patient cohort are suggestive of the notion that phFTD and bvFTD may belong to the same disease spectrum. They may also provide a basis for further longitudinal studies in phFTD, specifically exploring the structural vs. functional brain changes. Such studies are essential for improved insight, accurate diagnosis, and appropriate treatment of phFTD.
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functional connectivity and microstructural white matter changes in Phenocopy frontotemporal dementia
European Radiology, 2017Co-Authors: Rozanna Meijboom, Rebecca M E Steketee, Robert Jan Osse, Inge De Koning, Lize C Jiskoot, Frank Jan De Jong, Aad Van Der Lugt, John C Van Swieten, Marion SmitsAbstract:Objectives Phenocopy frontotemporal dementia (phFTD) is a rare and poorly understood clinical syndrome. PhFTD shows core behavioural variant FTD (bvFTD) symptoms without associated cognitive deficits and brain abnormalities on conventional MRI and without progression. In contrast to phFTD, functional connectivity and white matter (WM) microstructural abnormalities have been observed in bvFTD. We hypothesise that phFTD belongs to the same disease spectrum as bvFTD and investigated whether functional connectivity and microstructural WM changes similar to bvFTD are present in phFTD.
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structural and functional brain abnormalities place Phenocopy frontotemporal dementia ftd in the ftd spectrum
NeuroImage: Clinical, 2016Co-Authors: Rebecca M E Steketee, Rozanna Meijboom, Esther E Bron, Robert Jan Osse, Inge De Koning, Lize C Jiskoot, Stefan Klein, Frank Jan De Jong, Aad Van Der Lugt, John C Van SwietenAbstract:Purpose ‘Phenocopy’ frontotemporal dementia (phFTD) patients may clinically mimic the behavioral variant of FTD (bvFTD), but do not show functional decline or abnormalities upon visual inspection of routine neuroimaging. We aimed to identify abnormalities in gray matter (GM) volume and perfusion in phFTD and to assess whether phFTD belongs to the FTD spectrum. We compared phFTD patients with both healthy controls and bvFTD patients.