Clinical And Genetic Aspects Of Sudden Cardiac Death In The Practice Of Sports Medicine

Sudden cardiac death is the leading cause of non-traumatic mortality in young (

Sudden cardiac death is the leading cause of non-traumatic mortality in young (

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.

Sudden death in athletes is a global problem. Although it is a relatively rare phenomenon (1/100,000 persons), when it does occur, it is often as an incomprehensible event. In fact, it strikes subjects who presumably should be much healthier than the general population. In the previous 20 years, many authors have studied this problem in an attempt to understand the causes and prevent these events, and it has been determined that, in the vast majority of cases, athletes who die suddenly have an underlying heart disease (arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, coronary anomalies, channelopathies, etc.). In most cases these diseases do not produce major symptoms and do not preclude sports activity even at the highest levels, although they do increase the incidence of sudden death. How to discover these diseases in asymptomatic athletes is a hotly debated issue. In particular, there is controversy as to whether all athletes should undergo detailed medical screening, including electrocardiogram, or whether the costs of this screening are too high in relation to the event incidence. The purpose of this book is to accurately analyze the causes of sudden death in athletes and to provide cardiologists and sports physicians with useful tips on how to identify at-risk individuals.

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.

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.

This is the latest volume in the IOC Encyclopaedia of Sports Medicine series, summarizing the evidence from all relevant sources on the genetic and molecular basis of sports and other human physical performance. The initial chapters address the basic science of genomics and genetics and the regulation of gene expression. Additional chapters provide authoritative information on the genetics of complex performance phenotypes, the contributions of small animal research, family and twin studies, and ethnic comparisons. A final section addresses the issue of the contribution of specific genes and molecular markers as related to endurance, strength and power, and responsiveness to specific conditioning programs. This latest volume in the Encyclopaedia of Sports Medicine Series from the Medical Commission of the International Olympic Committee is a must for sports and exercise scientists who require a thorough guide to the most cutting edge science in this expanding field.

For the practicing sports medicine physician at the front line of sports cardiology, this comprehensive and authoritative resource provides a centralized source of information which addresses this important topic in an accessible manner. This book recognises the broad role sports physicians play, from liaison between athlete, family, specialist, and coaching staff based on the identification of pathological heart disease, to being first to respond when an athlete collapses. The chapters include basic science of disease and disorders, pathophysiology, diagnosis, the effect or role of exercise, and clinical management guidance. Provides a comprehensive and authoritative overview on all aspects of sports cardiology Addresses cardiac abnormalities confronting Olympic athletes, Paralympic athletes, as well as athletes competing on all other levels of competition Endorsed by the Medical Commission of the International Olympic Committee (IOC) Written and edited by global thought leaders in sports medicine