The Effects Of Genetic Hearing Impairment In The Family
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The Effects Of Genetic Hearing Impairment In The Family
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Author : Dafydd Stephens
language : en
Publisher: John Wiley & Sons
Release Date : 2006-10-02
The Effects Of Genetic Hearing Impairment In The Family written by Dafydd Stephens 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 2006-10-02 with Medical categories.
There has been an explosion of studies in the field of genetic hearing impairment in the past decade, associated with major advances in our understanding of the mechanisms and conditions involved. However, a recent review has highlighted the very limited number of studies on the effects of such hearing impairment on the individuals and families of those concerned. In The Effects of Genetic Hearing Impairment in the Family, under the aegis of the European Union GENDEAF programme, the editors have taken the first steps to address this deficit in our knowledge and understanding of this topic. The book addresses the problem by secondary analyses of existing large scale population studies, by prospective investigation of individuals with a family history of hearing impairment and by specific studies on patients with otosclerosis and neurofibromatosis 2 and their families. In addition several chapters look at the specific impact of deaf culture, ethnicity and religion on reactions to deafness and the specific needs in genetic counselling. This book represents an important first step in this field and should be an invaluable resource for all professionals involved with people with hearing impairments.
Genes Hearing And Deafness
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Author : Alessandro Martini
language : en
Publisher: CRC Press
Release Date : 2007-06-13
Genes Hearing And Deafness written by Alessandro Martini and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-06-13 with Medical categories.
The field of generic hearing impairment is one where rapid advances are taking place, and it can often be difficult for Audiologists to keep track of the broader picture. In this important new text the authors take a synoptic approach and summarize the causes and basis of hearing impairments, the impact on the individual and the therapies available
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.
Discovery And Characterization Of Genes Responsible For Inherited Hearing Loss
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Author : Ryan James Carlson
language : en
Publisher:
Release Date : 2022
Discovery And Characterization Of Genes Responsible For Inherited Hearing Loss written by Ryan James Carlson and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with categories.
Hearing loss is the most common sensory dysfunction in humans, affecting 1 in 400 newborns and an estimated 27 million adults in the United States. Current treatments, such as hearing aids and cochlear implants, increase functional hearing but do not achieve complete restoration and do not address the underlying cause of hearing loss. Remaining hearing loss can substantially impact quality of life on personal, cultural, and social levels. As modern public health measures have successfully reduced rates of prenatal infection and acoustic trauma, a growing proportion of hearing loss is genetic in origin (>50%). More than 120 genes critical to mammalian hearing have been identified so far through studies based on mouse models and informative human families. Improved understanding of hearing loss genes and their resulting phenotypes will lead to better clinical care for patients with hearing impairment, yield valuable information for genetic counseling efforts, increase our understanding of the fundamental mechanisms of hearing, and provide crucial information for the development of novel therapies for hearing loss.In pursuit of these goals, I utilized massively parallel sequencing methods to identify the causes of hearing loss in individuals across various backgrounds and countries of origin. In a large cohort of pediatric hearing loss patients from the United States, I used a custom targeted sequencing panel to identify mutations in known hearing loss genes. After combining these genomic findings with longitudinal phenotypic information obtained from each participant’s audiologic care, I present informative audioprofiles for over 40 genes, quantify hearing loss progression in key genes, and identify differences in cochlear implant success based on causative gene. In multiplex families from the Middle East and US without a causative gene identified by this method, I applied whole exome and whole genome sequencing to discover other interesting candidate hearing loss genes. First, I found two different mutations in NOG in two separate families (one from Israel and the other from the US) with conductive hearing loss and features of NOG-symphalangism spectrum disorder (NOG-SSD) and characterized the effects of these mutations experimentally. Next, in a Palestinian family with congenital nonsyndromic profound hearing loss, I identified homozygous damaging mutations in ALDOC which encodes a protein involved in fructose metabolism (aldolase C). I showed that this mutation leads to severely decreased enzymatic activity in a custom in vitro assay, but that the mutation does not recreate hearing loss in CRISPR/Cas9 edited mouse line. Lastly, in another Palestinian family with congenital nonsyndromic profound hearing loss, I evaluated the effects of a first-codon missense mutation in GOSR2. This mutation caused decreased, but not absent, translation that was sufficient to avoid the severe epileptic phenotype associated with other pathogenic mutations in this gene. These findings emphasize the importance of utilizing modern genetic sequencing methods to better characterize phenotypic differences between different causative hearing loss genes and to identify additional genes involved in the biochemical processes of human hearing.
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.
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.
Hearing Loss
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Author : National Research Council
language : en
Publisher: National Academies Press
Release Date : 2004-12-17
Hearing Loss written by National Research Council and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004-12-17 with Social Science categories.
Millions of Americans experience some degree of hearing loss. The Social Security Administration (SSA) operates programs that provide cash disability benefits to people with permanent impairments like hearing loss, if they can show that their impairments meet stringent SSA criteria and their earnings are below an SSA threshold. The National Research Council convened an expert committee at the request of the SSA to study the issues related to disability determination for people with hearing loss. This volume is the product of that study. Hearing Loss: Determining Eligibility for Social Security Benefits reviews current knowledge about hearing loss and its measurement and treatment, and provides an evaluation of the strengths and weaknesses of the current processes and criteria. It recommends changes to strengthen the disability determination process and ensure its reliability and fairness. The book addresses criteria for selection of pure tone and speech tests, guidelines for test administration, testing of hearing in noise, special issues related to testing children, and the difficulty of predicting work capacity from clinical hearing test results. It should be useful to audiologists, otolaryngologists, disability advocates, and others who are concerned with people who have hearing loss.
Impact Of Genetic Hearing Impairment
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Author : Dafydd Stephens
language : en
Publisher: John Wiley & Sons
Release Date : 2005
Impact Of Genetic Hearing Impairment written by Dafydd Stephens 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 2005 with Medical categories.
This book addresses the impact of genetic deafness/hearing impairment on people' s lives and those around them. It includes the perspectives of those who are deaf or hard of hearing as well as those working in the field. Professional topics include genetic counselling, social science, psychology, social work and - within medicine - audiological and ENT medical and audiological paediatrics. These practitioners are both hearing and hearing impaired. The impact of deafness on children, those of working age and elderly people is discussed highlighting the specific effect of genetic factors. In particular there are chapters on deafblindness and otosclerosis and NF2 (a potentially lethal condition). The Who definitions and ICF are used as a framework for considering the effect on people' s lives of impairment and their participation in society. This provides a bridge between the medical and social models of disability. Contributors write from both their professional and personal experience in order to try and address some of the issues raised by the real impact of genetic deafness on everyday life and how these can best be tackled by those working in the field.
Hearing Differently
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Author : Ruth A. Morgan-Jones
language : en
Publisher: John Wiley & Sons
Release Date : 2001-01-02
Hearing Differently written by Ruth A. Morgan-Jones 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 2001-01-02 with Medical categories.
Hearing loss now strikes one in seven people but how to study the impact of hearing loss on relationships has continually baffled researchers. The authors' personal experience with profound hearing loss and her roles as wife, mother, social worker and counsellor, suggest that the complexities involved might be fruitfully explored by using an intensive and repetitive interviewing technique. This book explores and analyses 150 in-depth interviews with hearing impaired people, including eleven couples in committed relationships where one partner is hearing and the other is hearing impaired. Detailed information was obtained about the way each couple managed conflict, decision making, household chores, communication, and perceived the hearing impairment within their relationship. Five major strands emerge: intimate family relationships, social support networks, communication strategies, the nature of care and recommendations for social policy. By drawing from the fields of family therapy, marital therapy, counselling, family sociology, social policy, psychology, social psychology and linguistics as well as disability and deafness, a new broader and more positive picture emerges. This ground-breaking book is aimed at professionals who would like to work more effectively with deaf and hearing impaired people. Although not a 'How to Cope' book, it will also interest hearing impaired people themselves because of the enormous number of insights offered.
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.