Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Type IV Ehlers Danlos: Abdominal Aortic Rupture After Endovascular Repair of Common Iliac Artery Aneurysms
Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder impacting collagen production, leading to diverse symptoms and complications across various organs. While classical EDS seldom involves vascular issues, patients with type IV EDS (vEDS) face severe risks such as vascular aneurysm, dissection, and rupture. This form of EDS is relatively rare, accounting for less than 4% of all EDS cases, and it poses significant challenges in terms of surgical interventions. (Source: Journal of Vascular Surgery)
Source: Journal of Vascular Surgery - March 20, 2024 Category: Surgery Authors: Sofia Tronconi, Natalia Galv ão, Fabio Menezes Husemann, Ana Terezinha Guillaumon Source Type: research
Endovascular Aortic Intervention in Patients With Vascular Ehlers-Danlos Syndrome – Preliminary Data From the EVICTUS Investigator Group
Vascular Ehlers-Danlos syndrome (vEDS) is a rare hereditary connective tissue disease causing severe vascular fragility. This sub-study in the Endovascular Aortic Intervention in Patients With Connective Tissue Disease (EVICTUS) project aims to describe clinical characteristics, treatment details and outcomes for an international cohort of patients with vEDS treated with endovascular aortic repairs. (Source: Journal of Vascular Surgery)
Source: Journal of Vascular Surgery - March 20, 2024 Category: Surgery Authors: Karl Wilhelm Olsson, Kevin Mani, Anders Wanhainen, the EVICTUS investigators Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations
Methodist Debakey Cardiovasc J. 2024 Mar 14;20(2):51-58. doi: 10.14797/mdcvj.1371. eCollection 2024.ABSTRACTThoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-block...
Source: Methodist DeBakey Cardiovascular Journal - March 18, 2024 Category: Cardiology Authors: Valeria E Duarte Jessica N Richardson Michael N Singh Source Type: research
