Ion Channel Diseases

Ion Channel Diseases

Author:

Publisher: Academic Press

Published: 2011-09-06

Total Pages: 168

ISBN-13: 0080923100

DOWNLOAD EBOOK

Ion channel dysfunction in humans leads to impairment of the excitable processes necessary for the normal function of several tissues, such as muscle and brain. It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component. This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. Keeping true to the scope of the serial, novel genomic and modeling research approaches and a review of potential therapeutic approaches for each of these conditions are also incorporated.


J Wave Syndromes

J Wave Syndromes

Author: Charles Antzelevitch

Publisher: Springer

Published: 2016-06-27

Total Pages: 342

ISBN-13: 3319315781

DOWNLOAD EBOOK

This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics. J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes. There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.


Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author: Roger N. Rosenberg

Publisher: Elsevier

Published: 2014-10-28

Total Pages: 1465

ISBN-13: 0124105491

DOWNLOAD EBOOK

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations


Brugada Phenocopy

Brugada Phenocopy

Author: Adrian Baranchuk

Publisher: Academic Press

Published: 2018-03-28

Total Pages: 158

ISBN-13: 0128111526

DOWNLOAD EBOOK

Brugada Phenocopy: The Art of Recognizing the Brugada ECG Pattern details all aspects associated with alternative diagnosis to Brugada Syndrome (BrS). Coverage includes how to identify the proper ECG pattern, what to do to investigate for BrP, and how to avoid misinterpretations and the use of unnecessary and expensive treatments. Chapters are written by experienced professionals, many of whom are colleagues that initially described this condition. This easy to use volume is a must have reference for researchers of cardiology, cardiologists, electrocardiologists, internists, emergency care doctors and students, residents and fellows. - Assists in the proper recognition of the Brugada ECG patterns and how to distinguish true BrS from other conditions with identical ECG - Expands understanding on how to properly recognize the ECG of Brugada patterns - Contains access to a companion website with video to enhance understanding of proper measurement of the beta angle (Chevallier) and the base of the triangle (Serra)


Textbook of Sports and Exercise Cardiology

Textbook of Sports and Exercise Cardiology

Author: Axel Pressler

Publisher: Springer Nature

Published: 2020-04-08

Total Pages: 1093

ISBN-13: 3030353745

DOWNLOAD EBOOK

This textbook provides a comprehensive, yet practically orientated overview of classic and novel sports cardiology topics, based on current evidence, guidelines, recommendations and expert experience. Numerous publications have provided guidance to these issues, but it has become increasingly difficult for both students and doctors to obtain a thorough, but practicable overview for optimal clinical care of athletes and patients. This book is intended as an educational work, filling the large gaps that are still present in the current educational guidelines for medical students and cardiology trainees. Textbook of Sports and Exercise Cardiology differs from other sports cardiology books by focusing on clear, practical recommendations based on the latest evidence, primarily targeting those who seek professional background information and education that can easily be transferred into everyday care.


Electrical Diseases of the Heart

Electrical Diseases of the Heart

Author: Ihor Gussak

Publisher: Springer Science & Business Media

Published: 2008-09-08

Total Pages: 982

ISBN-13: 1846288541

DOWNLOAD EBOOK

This book provides a unique contemporary and succinct distillation of the current status of recently delineated electrical diseases of the heart, emphasizing their common and diverse clinical features. The latest developments in the field of experimental and clinical cardiac electrophysiology, genetics, pharmacology and interventional therapies of various clinical arrhythmogenic entities are featured and discussed in terms of recent advances in basic and clinical science. The book is divided into seven major parts. Each part consists of chapters (total of 64) dealing with related topics.


Neuromuscular Disorders: Management and Treatment E-Book

Neuromuscular Disorders: Management and Treatment E-Book

Author: Tulio E. Bertorini

Publisher: Elsevier Health Sciences

Published: 2010-09-08

Total Pages: 469

ISBN-13: 1437736408

DOWNLOAD EBOOK

Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.