A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes

Author : Muhammad Noman,Shazia Anwer Bukhari,Muhammad Tahir
Publisher : Unknown
Page : 98 pages
File Size : 40,7 Mb
Release : 2020-11-04
Category : Electronic
ISBN : 9798558960976

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A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes by Muhammad Noman,Shazia Anwer Bukhari,Muhammad Tahir Pdf

Hearing impairment is an immensely diagnosed genetic cause, 5% of the total world population effects with different kind of congenital hearing loss (HL). In third-world countries or countries where consanguineous marriages are more common the frequency rate of genetic disorders are at its zenith. Approximately, the incidence of hearing afflictions is ostensibly 7-8:1000 individuals whereas it is estimated that about 466 million peoples suffer with significant HL, and of theses deaf cases 34 million are children's up to March, 2020. Several genes and colossal numbers of pathogenic variants cause hearing impairment, which aided in next-generation with recessive, dominant or X-linked inheritance traits. This review highlights on syndromic and non-syndromic HL (SHL and NSHL), and categorized as conductive, sensorineural and mixed HL, which having autosomal dominant and recessive, and X-linked or mitochondrial mode of inheritance. Many hundred genes involved in HL are reported, and their mutation spectrum becomes very wide. Mapping of pathogenic genes in consanguinity family is facilitated to understand the disease history. Review presents the bases of HL and also focused on various genetic factors that cause deafness like the basics of genetic inheritance, and classic and well-characterized inherited factors of it. It also overviews the application of linkage analysis, SNPs genotyping and whole exome sequencing methods, in mapping and identification of new locus, causative genes and their variants in families inherited with HL. Conclusively, this review supports researchers in understanding the location of chromosome, the causative genes and specific locus which causing deafness in humans.

Author : Helga V. Toriello,Shelley D. Smith
Publisher : Oxford University Press
Page : 576 pages
File Size : 42,7 Mb
Release : 2013-06-20
Category : Medical
ISBN : 9780199313884

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Hereditary Hearing Loss and Its Syndromes by Helga V. Toriello,Shelley D. Smith Pdf

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 : Patrick J. Willems
Publisher : CRC Press
Page : 453 pages
File Size : 53,5 Mb
Release : 2003-10-17
Category : Medical
ISBN : 9780824756888

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Genetic Hearing Loss by Patrick J. Willems Pdf

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 : Charles I. Berlin,Bronya J. B. Keats
Publisher : Singular
Page : 0 pages
File Size : 50,8 Mb
Release : 2000
Category : Deaf
ISBN : 0769301037

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Genetics and Hearing Loss by Charles I. Berlin,Bronya J. B. Keats Pdf

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 : George M. Strain
Publisher : CABI
Page : 158 pages
File Size : 42,9 Mb
Release : 2011-03-01
Category : Deaf cats
ISBN : 1845937864

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Deafness in Dogs and Cats by George M. Strain Pdf

Deafness in pets is a very common problem and is increasingly being presented to veterinarians, as owners and breeders become more aware and concerned about such issues. This book will provide complete coverage of the subject describing the anatomy and physiology of the auditory system, types of deafness, testing for deafness, methods of amelioration and management, behaviour of deaf animals, and other issues associated with living and dealing with deaf pets.

Author : Suzanne B. Cassidy,Judith E. Allanson
Publisher : John Wiley & Sons
Page : 1678 pages
File Size : 51,7 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210673

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Management of Genetic Syndromes by Suzanne B. Cassidy,Judith E. Allanson Pdf

The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Author : B. Vona,T. Haaf
Publisher : Karger Medical and Scientific Publishers
Page : 146 pages
File Size : 49,5 Mb
Release : 2016-04-21
Category : Medical
ISBN : 9783318058567

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Genetics of Deafness by B. Vona,T. Haaf Pdf

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 : Robert J. Ruben,Thomas R. Van de Water,Karen P. Steel,New York Academy of Sciences,Deafness Research Foundation (U.S.)
Publisher : Unknown
Page : 348 pages
File Size : 40,6 Mb
Release : 1991
Category : Medical
ISBN : UVA:X002045235

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Genetics of Hearing Impairment by Robert J. Ruben,Thomas R. Van de Water,Karen P. Steel,New York Academy of Sciences,Deafness Research Foundation (U.S.) Pdf

Author : Stephen A. Lerner,Gregory J. Matz,Joseph E. Hawkins
Publisher : Little, Brown Medical Division
Page : 488 pages
File Size : 47,9 Mb
Release : 1981
Category : Medical
ISBN : UOM:39015000886310

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Aminoglycoside Ototoxicity by Stephen A. Lerner,Gregory J. Matz,Joseph E. Hawkins Pdf

Author : Bruno Bissonnette
Publisher : McGraw-Hill Education / Medical
Page : 988 pages
File Size : 53,5 Mb
Release : 2006-08-10
Category : Medical
ISBN : UOM:39015064795670

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Syndromes: Rapid Recognition and Perioperative Implications by Bruno Bissonnette Pdf

Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 40,6 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

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 : Department of Health and Human Services,Centers for Disease Control and Prevention,National Institute Safety and Health
Publisher : Createspace Independent Publishing Platform
Page : 122 pages
File Size : 46,9 Mb
Release : 2014-02-19
Category : Technology & Engineering
ISBN : 1496001591

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Occupational Noise Exposure by Department of Health and Human Services,Centers for Disease Control and Prevention,National Institute Safety and Health Pdf

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.

Author : A. John Camm,Marek Malik,Yee Guan Yap
Publisher : John Wiley & Sons
Page : 208 pages
File Size : 52,6 Mb
Release : 2008-04-15
Category : Medical
ISBN : 9781405146166

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Acquired Long QT Syndrome by A. John Camm,Marek Malik,Yee Guan Yap Pdf

In recent years there has been considerable interest in the diagnosis and understanding of ventricular repolarisation, particularly the QT interval prolongation and abnormal T and T/U wave morphology associated with torsades de pointes. Advances in ion channel cloning have greatly improved our understanding of the role of ionic channels in mediating cardiac repolarisation. Unfortunately, it is increasingly recognised that a number of drugs, both those associated with altering repolarisation, and others for non-cardiac conditions can increase the propensity for polymorphic ventricular tachycardia, syncope and even ventricular fibrillation and sudden death. In this volume, arrhythmia specialists from St. George’s Hospital Medical School, London discuss the mechanisms behind QT prolongation and torsades de pointes. They focus particularly on the risk of individual cardiac and non-cardiac drugs in provoking long QT syndrome, providing a comprehensive review which will be useful for all electrophysiologists treating polymorphic ventricular tachycardias, and will expose important regulatory issues for pharmaceutical authorities and for the wider medical community.

Author : Bronya J.B. Keats,Arthur N. Popper,Richard R. Fay
Publisher : Springer Science & Business Media
Page : 332 pages
File Size : 41,6 Mb
Release : 2002-01-17
Category : Medical
ISBN : 9780387985015

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Genetics and Auditory Disorders by Bronya J.B. Keats,Arthur N. Popper,Richard R. Fay Pdf

Genetics is fundamental to hearing function, and an understanding of genetics enhances both auditory research and the clinical treatment of the hearing impaired. Approaches to the diagnosis and treatment of hearing impairment have developed from technological advances in genetic research. This volume covers gene expression, mutations, mapping and cloning, as well as mitochondrial and cellular genetics. Chapters are also included on the uses of mouse models, genetic epidemiology and genetic counseling specifically for hearing impairment. As a comprehensive review of the genetics of hearing, this book will interest hearing researchers, clinicians and genetic counselors.

Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
Publisher : CRC Press
Page : 368 pages
File Size : 44,8 Mb
Release : 2006-04-19
Category : Medical
ISBN : 1842142887

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Mitochondrial Medicine by Salvatore DiMauro,Michio Hirano,Eric A. Schon Pdf

Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.