A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes
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A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes
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Author : Muhammad Noman
language : en
Publisher:
Release Date : 2020-11-04
A Comprehensive Review On Inherited Sensorineural Hearing Loss And Their Syndromes written by Muhammad Noman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-11-04 with categories.
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.
Hereditary Hearing Loss And Its Syndromes
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Author : Helga V. Toriello
language : en
Publisher: Oxford University Press
Release Date : 2013-06-20
Hereditary Hearing Loss And Its Syndromes written by Helga V. Toriello and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-06-20 with Medical categories.
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.
Genetic Hearing Loss
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Author : Patrick J. Willems
language : en
Publisher: CRC Press
Release Date : 2003-10-17
Genetic Hearing Loss written by Patrick J. Willems and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-10-17 with Medical categories.
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.
Genetics And Hearing Loss
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Author : Charles I. Berlin
language : en
Publisher: Singular
Release Date : 2000
Genetics And Hearing Loss written by Charles I. Berlin and has been published by Singular this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Deaf categories.
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.
Deafness In Dogs And Cats
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Author : George M. Strain
language : en
Publisher: CABI
Release Date : 2011-03-01
Deafness In Dogs And Cats written by George M. Strain and has been published by CABI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-03-01 with Deaf cats categories.
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.
Genetics Of Deafness
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Author : B. Vona
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2016-04-21
Genetics Of Deafness written by B. Vona and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-21 with Medical categories.
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.
Handbook Of Life Course Health Development
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Author : Neal Halfon
language : en
Publisher: Springer
Release Date : 2017-11-20
Handbook Of Life Course Health Development written by Neal Halfon and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-11-20 with Medical categories.
This book is open access under a CC BY 4.0 license. This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.
Management Of Genetic Syndromes
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Author : Suzanne B. Cassidy
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-20
Management Of Genetic Syndromes written by Suzanne B. Cassidy and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-20 with Medical categories.
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
Occupational Noise Exposure
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Author : Department of Health and Human Services
language : en
Publisher: Createspace Independent Publishing Platform
Release Date : 2014-02-19
Occupational Noise Exposure written by Department of Health and Human Services and has been published by Createspace Independent Publishing Platform this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-02-19 with Technology & Engineering categories.
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.
Cassidy And Allanson S Management Of Genetic Syndromes
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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.