Clinical and Genetic Aspects of Sudden Cardiac Death in the Practice of Sports Medicine PDF Download
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Author: Lynne Millar
Publisher: Morgan & Claypool Publishers
ISBN: 1615043861
Category : Biography & Autobiography
Languages : en
Pages : 164
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Book Description
Sudden cardiac death is the leading cause of non-traumatic mortality in young (
Author: Lynne Millar
Publisher: Morgan & Claypool Publishers
ISBN: 1615043861
Category : Biography & Autobiography
Languages : en
Pages : 164
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Book Description
Sudden cardiac death is the leading cause of non-traumatic mortality in young (
Author: Dhavendra Kumar
Publisher: Springer
ISBN: 3319661140
Category : Medical
Languages : en
Pages : 921
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Book Description
This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Author: Johnathan Cooper-Knock
Publisher: Biota Publishing
ISBN: 1615044299
Category : Science
Languages : en
Pages : 62
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Book Description
In this e-book, motor neuron disease (MND) shall refer to amyotrophic lateral sclerosis (ALS), the most common neurodegenerative disorder affecting both the upper and lower motor neurons. With the discovery of C9ORF72 expansions in approximately 10% of all MND cases, in certain populations, we stand at the brink of a new era of MND research and hopefully treatment facilitated by the ability to associate a relatively large group of patients with a similar disease mechanism. This review will summarise both current clinical management of MND and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.
Author: Meena Upadhyaya
Publisher: Biota Publishing
ISBN: 1615046453
Category : Science
Languages : en
Pages : 81
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Book Description
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.
Author: Robert W. Battle
Publisher: Elsevier Health Sciences
ISBN: 0323391206
Category : Medical
Languages : en
Pages : 201
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Book Description
A sports cardiologist evaluates affected athletes and suggests the most appropriate treatment options that may allow them to stay active in sports. This issue will discuss the following topics: Cardiovascular Adaptation and Remodeling to Rigorous Athletic Training, The Historical Perspective of Athletic Sudden Death, The ECG in Elite Athletes, The Management of Athletes with Congenital Heart Disease, Genetic testing in athletesThe Impact of Sports Cardiology on the Practice of Sports Medicine and many more!
Author: Dhavendra Kumar
Publisher: Oxford Monographs on Medical G
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853
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Book Description
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Author:
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 1228
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Book Description
Author: Matteo Vatta
Publisher: Frontiers Media SA
ISBN: 2889452816
Category :
Languages : en
Pages : 130
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Book Description
The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.
Author: Christine E. Lawless
Publisher: Springer Science & Business Media
ISBN: 0387927751
Category : Medical
Languages : en
Pages : 411
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Book Description
This book presents an invaluable symptoms-based approach to sports cardiology for sports medicine physicians, primary care physicians, and cardiologists. Edited by an authority in the field, the text offers sought-after insight on the cardiac health of athletes. Case studies are featured throughout to further understanding and the integration of concepts into daily practice. With contributions by both sports medicine physicians and cardiologists, this timely book bridges the gap between disciplines and is an unparalleled resource for those looking to effectively manage the cardiac health of active patients.
Author: Barry J. Maron
Publisher: John Wiley & Sons
ISBN: 140514615X
Category : Medical
Languages : en
Pages : 527
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Book Description
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
