Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population
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Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population
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Author : Dongyang Wu
language : en
Publisher: OAE Publishing Inc.
Release Date : 2023-06-25
Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population written by Dongyang Wu and has been published by OAE Publishing Inc. this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-25 with Medical categories.
Introduction: Dilated cardiomyopathy (DCM) represents a diverse set of myocardial diseases characterized by notable genetic heterogeneity. Although over 50 genes have been associated with DCM, these collectively explain 35% of idiopathic DCM cases. Variants in the FBN1 gene encoding fibrillin-1 are primarily linked to connective tissue disorders. Considering the potential of these disorders to impact myocardial tissue, this study probes into the possible association between FBN1 variants and DCM. Aim: The objective of this study was to investigate the association between FBN1 variants and DCM in a Chinese Han population. Methods and Results: We performed whole-exome sequencing (WES) to identify rare FBN1 variants among 1,059 DCM cases and 514 controls. Utilizing a case-control strategy and the optimal sequence kernel association test (SKAT-O), we found a significant enrichment of rare deleterious FBN1 variants in DCM patients (19 of 1,059 vs. 0 of 514, PSKAT-O = 7.49E-04). Clinical characteristics analysis indicated a higher occurrence of atrial fibrillation and a higher rate of implantable cardioverter-defibrillator (ICD) implantation among DCM patients carrying FBN1 variants (FBN1+) compared to non-carriers (FBN1-). However, these FBN1 variants did not significantly affect primary endpoints, defined as cardiac mortality or heart transplantation, yet appeared to increase the risk of secondary endpoints, including all-cause mortality or heart failure recurrence. Conclusion: The findings suggest an association between rare deleterious variants in the FBN1 gene and DCM in a Chinese Han population. Our findings underline the importance of further research to validate these results and elucidate the role of FBN1 in DCM. Potential Impact of the findings: This research provides fresh insights into the potential role of FBN1 rare variants in DCM, pointing to new directions for future genetic studies and potential therapeutic strategies in DCM management.
Diagnosis And Management Of Hypertrophic Cardiomyopathy
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Author : Barry J. Maron
language : en
Publisher: John Wiley & Sons
Release Date : 2008-04-15
Diagnosis And Management Of Hypertrophic Cardiomyopathy written by Barry J. Maron and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-15 with Medical categories.
Diagnosis and Management of Hypertrophic Cardiomyopathy is aunique, multi-authored compendium of information regarding thecomplexities of clinical and genetic diagnosis, natural history,and management of hypertrophic cardiomyopathy (HCM)—the mostcommon and important of the genetic cardiovasculardiseases—as well as related issues impacting the health oftrained athletes. Edited by Dr. Barry J. Maron, a world authority on HCM, and withmajor contributions from all of the international experts in thisfield, this book provides a single comprehensive source ofinformation concerning HCM. Recent advances in the field arediscussed, including the importance of left ventricular outflowtract obstruction, the use of implantable defibrillators for theprevention of sudden death in young people, definition of thegenetic basis for HCM and its role in clinical diagnosis and riskstratification, the development of more precise strategies forassessing the level of risk for sudden death among all patientswith HCM, and the evolution of invasive interventions for heartfailure symptoms, such as surgical management and its alternatives(alcohol septal ablation and dual-chamber pacing). Key Features: Contributions from all experts in the field,representing diverse viewpoints regarding this heterogeneousdisease and related issues in athletes Information to dispel misunderstandings regarding issuesassociated with HCM and cardiovascular disease in athletes The only comprehensive source of information available on thetopic
Uncommon Causes Of Stroke
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Author : Julien Bogousslavsky
language : en
Publisher: Cambridge University Press
Release Date : 2001-05-24
Uncommon Causes Of Stroke written by Julien Bogousslavsky and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-05-24 with Medical categories.
An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.
Atlas Of Genodermatoses
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Author : Ruggero Caputo
language : en
Publisher: CRC Press
Release Date : 2005-12-12
Atlas Of Genodermatoses written by Ruggero Caputo and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-12 with Medical categories.
A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Inherited Cardiac Disease
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Author : Perry Elliott
language : en
Publisher: Oxford University Press, USA
Release Date : 2020-11-11
Inherited Cardiac Disease written by Perry Elliott and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-11-11 with Medical categories.
Fully updated to reflect advances in molecular genetic technologies and national guidelines on inherited cardiac diseases in families, this second edition provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system.
Ehlers Danlos Syndrome A Multidisciplinary Approach
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Author : J.W.G. Jacobs
language : en
Publisher: IOS Press
Release Date : 2018-08-14
Ehlers Danlos Syndrome A Multidisciplinary Approach written by J.W.G. Jacobs and has been published by IOS Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-08-14 with Medical categories.
Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.
Vasculopathies
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Author : Marc Thiriet
language : en
Publisher: Springer
Release Date : 2019-02-18
Vasculopathies written by Marc Thiriet and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-02-18 with Science categories.
This volume presents one of the clinical foundations of vasculopathies: the biological markers and risk factors associated with cardiovascular disease. A detailed biological and clinical framework is provided as a prerequisite for adequate modeling. Chapter 1 presents cardiovascular risk factors and markers, where the search for new criteria is aimed at improving early detection of chronic diseases. The subsequent chapters focus on hypertension, which involves the kidney among other organs as well as many agents, hyperglycemia and diabetes, hyperlipidemias and obesity, and behavior. The last of these risk factors includes altered circadian rhythm, tobacco and alcohol consumption, physical inactivity, and diet. The volumes in this series present all of the data needed at various length scales for a multidisciplinary approach to modeling and simulation of flows in the cardiovascular and ventilatory systems, especially multiscale modeling and coupled simulations. The cardiovascular and respiratory systems are tightly coupled, as their primary function is to supply oxygen to and remove carbon dioxide from the body's cells. Because physiological conduits have deformable and reactive walls, macroscopic flow behavior and prediction must be coupled to nano- and microscopic events in a corrector scheme of regulated mechanisms. Therefore, investigation of flows of blood and air in anatomical conduits requires an understanding of the biology, chemistry, and physics of these systems together with the mathematical tools to describe their functioning in quantitative terms.
Aneurysms Osteoarthritis Syndrome
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Author : Denise van der Linde
language : en
Publisher: Elsevier
Release Date : 2016-10-03
Aneurysms Osteoarthritis Syndrome written by Denise van der Linde and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-03 with Medical categories.
Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care Contains clinical management guidance on optimal cardiovascular treatments and surgery Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features
Aortopathy
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Author : Koichiro Niwa
language : en
Publisher: Springer
Release Date : 2017-02-09
Aortopathy written by Koichiro Niwa and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-02-09 with Medical categories.
This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.
Principles And Applications Of Molecular Diagnostics
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Author : Nader Rifai
language : en
Publisher: Elsevier
Release Date : 2018-06-13
Principles And Applications Of Molecular Diagnostics written by Nader Rifai and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-06-13 with Science categories.
Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks