Genetics of Deafness

Genetics of Deafness

Author: B. Vona

Publisher: Karger Medical and Scientific Publishers

Published: 2016-04-21

Total Pages: 158

ISBN-13: 3318058564

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Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.


Gene Therapy of Cochlear Deafness

Gene Therapy of Cochlear Deafness

Author: Allen F. Ryan

Publisher: Karger Medical and Scientific Publishers

Published: 2009-01-01

Total Pages: 127

ISBN-13: 3805590350

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This volume reviews current concepts and recent research findings of the application of gene therapy to the inner ear. Various forms of gene therapy, disorders that are potential targets for gene therapy, techniques for gene delivery, and mechanisms of gene targeting, and also obstacles that have yet to be overcome are discussed.


Gene Therapy and Therapeutic Interventions in the Auditory System

Gene Therapy and Therapeutic Interventions in the Auditory System

Author: Gary D. Housley

Publisher:

Published: 2002

Total Pages: 0

ISBN-13: 9783805574587

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This special issue represents the third of three issues containing papers arising from the 'Auditory Function and Dysfunction: Molecular and Physiological Mechanisms' symposium held in Auckland, New Zealand in August 2001. It reflects on the exciting advances that are being made in our understanding of the molecular basis of cochlear development, neurodegeneration and the attempts to provide otoprotective strategies. One group of papers deals with some of the genetic aspects of cochlear development and hearing loss. In a second group the advances being made in strategies to protect the inner ear from stress and ototoxic drugs that may ultimately form the basis of treatments for inner ear disorders are being discussed. The last group of papers considers the delivery of compounds to the inner ear for its genetic or pharmacological manipulation. This and the other two issues stemming from the symposium will be valuable contributions to the communication between the wide-ranging disciplines within the hearing sciences and the clinic.


Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes

Author: Helga V. Toriello

Publisher: Oxford University Press

Published: 2013-06-20

Total Pages: 749

ISBN-13: 0199313881

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This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.


Magnesium in the Central Nervous System

Magnesium in the Central Nervous System

Author: Robert Vink

Publisher: University of Adelaide Press

Published: 2011

Total Pages: 354

ISBN-13: 0987073052

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The brain is the most complex organ in our body. Indeed, it is perhaps the most complex structure we have ever encountered in nature. Both structurally and functionally, there are many peculiarities that differentiate the brain from all other organs. The brain is our connection to the world around us and by governing nervous system and higher function, any disturbance induces severe neurological and psychiatric disorders that can have a devastating effect on quality of life. Our understanding of the physiology and biochemistry of the brain has improved dramatically in the last two decades. In particular, the critical role of cations, including magnesium, has become evident, even if incompletely understood at a mechanistic level. The exact role and regulation of magnesium, in particular, remains elusive, largely because intracellular levels are so difficult to routinely quantify. Nonetheless, the importance of magnesium to normal central nervous system activity is self-evident given the complicated homeostatic mechanisms that maintain the concentration of this cation within strict limits essential for normal physiology and metabolism. There is also considerable accumulating evidence to suggest alterations to some brain functions in both normal and pathological conditions may be linked to alterations in local magnesium concentration. This book, containing chapters written by some of the foremost experts in the field of magnesium research, brings together the latest in experimental and clinical magnesium research as it relates to the central nervous system. It offers a complete and updated view of magnesiums involvement in central nervous system function and in so doing, brings together two main pillars of contemporary neuroscience research, namely providing an explanation for the molecular mechanisms involved in brain function, and emphasizing the connections between the molecular changes and behavior. It is the untiring efforts of those magnesium researchers who have dedicated their lives to unraveling the mysteries of magnesiums role in biological systems that has inspired the collation of this volume of work.


Hearing Loss: Mechanisms, Prevention and Cure

Hearing Loss: Mechanisms, Prevention and Cure

Author: Huawei Li

Publisher: Springer

Published: 2019-03-26

Total Pages: 180

ISBN-13: 9811361231

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This book systematically discusses the pathogenesis, prevention, and the current and potential clinical treatment of hearing loss, as well as the latest advances in hearing research. Hearing loss is a prevalent sensory disorder, which according to a 2015 World Health Organization (WHO) report affected 9% of the global population in 2015. As populations continue to age, more and more people are suffering from the condition, with 60% of those aged between 65 and 75 affected. Hearing loss seriously affects patients’ ability to work ability and quality of life, and as such deafness has become an increasingly urgent social problem around the globe. Sensorineural hearing loss is mainly caused by damage to the hair cells (HCs), and the subsequent loss of spiral ganglion neurons (SGNs). Damage to the HCs in the inner ear can result from exposure to loud noises and environmental and chemical toxins as well as genetic disorders, aging, and certain medications. This book provides ENT specialists and researchers, as well as individuals affected a comprehensive introduction to the field of hearing loss.


Genetic Hearing Loss

Genetic Hearing Loss

Author: Patrick J. Willems

Publisher: CRC Press

Published: 2003-10-17

Total Pages: 453

ISBN-13: 0824756886

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Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.


Occupational Noise Exposure

Occupational Noise Exposure

Author: Department of Health and Human Services

Publisher: Createspace Independent Publishing Platform

Published: 2014-02-19

Total Pages: 122

ISBN-13: 9781496001597

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In the Occupational Safety and Health Act of 1970, Congress declared that its purpose was to assure, so far as possible, safe and healthful working conditions for every working man and woman and to preserve our human resources. In this Act, the National Institute for Occupational Safety and Health (NIOSH) is charged with recommending occupational safety and health standards and describing exposure concentrations that are safe for various periods of employment-including but not limited to concentrations at which no worker will suffer diminished health, functional capacity, or life expectancy as a result of his or her work experience. By means of criteria documents, NIOSH communicates these recommended standards to regulatory agencies (including the Occupational Safety and Health Administration [OSHA]) and to others in the occupational safety and health community. Criteria documents provide the scientific basis for new occupational safety and health standards. These documents generally contain a critical review of the scientific and technical information available on the prevalence of hazards, the existence of safety and health risks, and the adequacy of control methods. In addition to transmitting these documents to the Department of Labor, NIOSH also distributes them to health professionals in academic institutions, industry, organized labor, public interest groups, and other government agencies. In 1972, NIOSH published Criteria for a Recommended Standard: Occupational Exposure to Noise, which provided the basis for a recommended standard to reduce the risk of developing permanent hearing loss as a result of occupational noise exposure [NIOSH 1972]. NIOSH has now evaluated the latest scientific information and has revised some of its previous recommendations. The 1998 recommendations go beyond attempting to conserve hearing by focusing on preventing occupational noise-induced hearing loss (NIHL). This criteria document reevaluates and reaffirms the recommended exposure limit (REL) for occupational noise exposure established by the National Institute for Occupational Safety and Health (NIOSH) in 1972. The REL is 85 decibels, A-weighted, as an 8-hr time-weighted average (85 dBA as an 8-hr TWA). Exposures at or above this level are hazardous. By incorporating the 4000-Hz audiometric frequency into the definition of hearing impairment in the risk assessment, NIOSH has found an 8% excess risk of developing occupational noise-induced hearing loss (NIHL) during a 40-year lifetime exposure at the 85-dBA REL. NIOSH has also found that scientific evidence supports the use of a 3-dB exchange rate for the calculation of TWA exposures to noise. The recommendations in this document go beyond attempts to conserve hearing by focusing on prevention of occupational NIHL. For workers whose noise exposures equal or exceed 85 dBA, NIOSH recommends a hearing loss prevention program (HLPP) that includes exposure assessment, engineering and administrative controls, proper use of hearing protectors, audiometric evaluation, education and motivation, recordkeeping, and program audits and evaluations. Audiometric evaluation is an important component of an HLPP. To provide early identification of workers with increasing hearing loss, NIOSH has revised the criterion for significant threshold shift to an increase of 15 dB in the hearing threshold level (HTL) at 500, 1000, 2000, 3000, 4000, or 6000 Hz in either ear, as determined by two consecutive tests. To permit timely intervention and prevent further hearing losses in workers whose HTLs have increased because of occupational noise exposure, NIOSH no longer recommends age correction on individual audiograms.