[PDF] Hereditary Hearing Loss And Its Syndromes eBook

Author : Helga V. Toriello
Publisher : Oxford University Press
Page : 749 pages
File Size : 45,43 MB
Release : 2013-06-20
Category : Medical
ISBN : 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.

Author : Robert J. Gorlin
Publisher : Oxford University Press, USA
Page : 514 pages
File Size : 15,34 MB
Release : 1995
Category : Deafness
ISBN : 9780195065527

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This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologist

Author : Patrick J. Willems
Publisher : CRC Press
Page : 453 pages
File Size : 48,95 MB
Release : 2003-10-17
Category : Medical
ISBN : 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.

Author : B. Vona
Publisher : Karger Medical and Scientific Publishers
Page : 158 pages
File Size : 10,3 MB
Release : 2016-04-21
Category : Medical
ISBN : 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.

Author : Charles I. Berlin
Publisher : Singular
Page : 0 pages
File Size : 13,99 MB
Release : 2000
Category : Deaf
ISBN : 9780769301037

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For clinical researchers in audiology and otolaryngology, this fifth book in the Kresge- Mirmelstein Award series features the proceedings of the 1998 symposium. The book includes contributions from leading researchers on genetic causes of hearing loss and includes a CD-ROM containing audio and video footage from a Balinese village with a large genetically deaf population that have adopted a sign language indigenous to their culture. The CD-ROM also features samples of American Sign Language and Cued Speech. In the tradition of Berlin's previous work this book presents stunning new and evocative information for both researchers and clinicians.

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 325 pages
File Size : 22,27 MB
Release : 2016-10-06
Category : Medical
ISBN : 0309439264

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The loss of hearing - be it gradual or acute, mild or severe, present since birth or acquired in older age - can have significant effects on one's communication abilities, quality of life, social participation, and health. Despite this, many people with hearing loss do not seek or receive hearing health care. The reasons are numerous, complex, and often interconnected. For some, hearing health care is not affordable. For others, the appropriate services are difficult to access, or individuals do not know how or where to access them. Others may not want to deal with the stigma that they and society may associate with needing hearing health care and obtaining that care. Still others do not recognize they need hearing health care, as hearing loss is an invisible health condition that often worsens gradually over time. In the United States, an estimated 30 million individuals (12.7 percent of Americans ages 12 years or older) have hearing loss. Globally, hearing loss has been identified as the fifth leading cause of years lived with disability. Successful hearing health care enables individuals with hearing loss to have the freedom to communicate in their environments in ways that are culturally appropriate and that preserve their dignity and function. Hearing Health Care for Adults focuses on improving the accessibility and affordability of hearing health care for adults of all ages. This study examines the hearing health care system, with a focus on non-surgical technologies and services, and offers recommendations for improving access to, the affordability of, and the quality of hearing health care for adults of all ages.

Author :
Publisher : Springer
Page : 3082 pages
File Size : 47,45 MB
Release : 2013-03-28
Category : Medical
ISBN : 9783642234989

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Otolaryngology Head and Neck Surgery is the medical and surgical specialty addressing disorders of the head and neck in both adult and pediatric populations. The goal of the encyclopedia is to serve as a single and comprehensive source of all the information that is essential for students and practitioners of the specialty. The vast amount of information included in the encyclopedia is divided into 5 volumes in line with the subspecialties of general otolaryngology, head and neck surgery, pediatric otolaryngology, otology–neurotology, and facial plastics. All volume editors are internationally recognized otolaryngologists with experience in publishing. Each section editor recruited experienced authors from all over the world to contribute on structured topics, and all entries are supported by published references. Thus, all information included in the encyclopedia is from credible sources and has been carefully screened for accuracy. The strength of the encyclopedia is its online availability and quick search features, which allow rapid retrieval of definitions and more in-depth information. Key words are hyperlinked to provide a gateway to numerous referenced manuscripts, journals, and books.

Author : John C. Carey
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 22,92 MB
Release : 2021-01-27
Category : Science
ISBN : 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author : Huawei Li
Publisher : Springer
Page : 180 pages
File Size : 25,13 MB
Release : 2019-03-26
Category : Medical
ISBN : 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.

Author : Cornelius Wilhelmus Radboud Jozef Cremers
Publisher : Karger Medical and Scientific Publishers
Page : 263 pages
File Size : 41,12 MB
Release : 2002-01-01
Category : Medical
ISBN : 3805574495

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A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.