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Author : Bruce W. Konigsmark
Publisher : W.B. Saunders Company
ISBN 13 :
Total Pages : 500 pages
Book Rating : 4.3/5 (91 download)
Download or read book Genetic and Metabolic Deafness written by Bruce W. Konigsmark and published by W.B. Saunders Company. This book was released on 1976 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Robert J. Gorlin
Publisher : Oxford University Press, USA
ISBN 13 : 9780195065527
Total Pages : 514 pages
Book Rating : 4.0/5 (655 download)
Download or read book Hereditary Hearing Loss and Its Syndromes written by Robert J. Gorlin and published by Oxford University Press, USA. This book was released on 1995 with total page 514 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Helga V. Toriello
Publisher : Oxford University Press
ISBN 13 : 0199313881
Total Pages : 749 pages
Book Rating : 4.1/5 (993 download)
Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author : Patrick J. Willems
Publisher : CRC Press
ISBN 13 : 0824756886
Total Pages : 453 pages
Book Rating : 4.8/5 (247 download)
Download or read book Genetic Hearing Loss written by Patrick J. Willems and published by CRC Press. This book was released on 2003-10-17 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
ISBN 13 : 3318058564
Total Pages : 158 pages
Book Rating : 4.3/5 (18 download)
Download or read book Genetics of Deafness written by B. Vona and published by Karger Medical and Scientific Publishers. This book was released on 2016-04-21 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
ISBN 13 : 9780769301037
Total Pages : 0 pages
Book Rating : 4.3/5 (1 download)
Download or read book Genetics and Hearing Loss written by Charles I. Berlin and published by Singular. This book was released on 2000 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Robert D. Stevens
Publisher : Cambridge University Press
ISBN 13 : 1107434424
Total Pages : 457 pages
Book Rating : 4.1/5 (74 download)
Download or read book Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.
Author : Neal Halfon
Publisher : Springer
ISBN 13 : 3319471430
Total Pages : 667 pages
Book Rating : 4.3/5 (194 download)
Download or read book Handbook of Life Course Health Development written by Neal Halfon and published by Springer. This book was released on 2017-11-20 with total page 667 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Paul Shaw
Publisher : Cambridge University Press
ISBN 13 : 1107435617
Total Pages : 434 pages
Book Rating : 4.1/5 (74 download)
Download or read book The Genetic Basis of Sleep and Sleep Disorders written by Paul Shaw and published by Cambridge University Press. This book was released on 2013-10-24 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.
Author : Dhavendra Kumar
Publisher : Oxford University Press
ISBN 13 : 019970547X
Total Pages : 1569 pages
Book Rating : 4.1/5 (997 download)
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Author : Rajesh V. Thakker
Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 880 pages
Book Rating : 4.1/5 (28 download)
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Author : Dhavendra Kumar
Publisher : Springer Science & Business Media
ISBN 13 : 140202231X
Total Pages : 611 pages
Book Rating : 4.4/5 (2 download)
Download or read book Genetic Disorders of the Indian Subcontinent written by Dhavendra Kumar and published by Springer Science & Business Media. This book was released on 2012-09-15 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Muntaser E. Ibrahim
Publisher : Cambridge University Press
ISBN 13 : 1107072026
Total Pages : 351 pages
Book Rating : 4.1/5 (7 download)
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Author : Stephen H. Tsang
Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 pages
Book Rating : 4.3/5 (199 download)
Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.
Author : Joseph R. Kraft MD MS. FCAP
Publisher : Trafford Publishing
ISBN 13 : 1425168116
Total Pages : 133 pages
Book Rating : 4.4/5 (251 download)
Download or read book Diabetes Epidemic & You written by Joseph R. Kraft MD MS. FCAP and published by Trafford Publishing. This book was released on 2008-05-07 with total page 133 pages. Available in PDF, EPUB and Kindle. Book excerpt: Revised 04/2011 DIABETES EPIDEMIC and YOU is not a cliché! It is a mandate for the awakening of the "silent" millions worldwide with "normal" fasting blood sugars and undiagnosed diabetes. If you have a "normal" fasting blood sugar, YOU may be one of the undiagnosed millions. YES, I do mean YOU. Since Hippocrates' time, earliest diagnosis provided the greatest opportunity for treatment and cure. This book highlights the earliest identification of type 2 diabetes by utilizing the insulin assay with the oral glucose tolerance. My cumulative experience of 14,384 oral glucose tolerances with insulin assays established the earliest diagnosis of prediabetes and diabetes when the blood sugars were normal. Prediabetes is type 2 diabetes. The tolerances were separated according to age groups, from 3Ð13 years to 81Ð90+ years. Each group was further divided into normal glucose tolerances, impaired glucose tolerances, and diabetes mellitus glucose tolerances. YOU, upon testing by oral glucose tolerance, will be in one of these categories. This resource of oral glucose tolerance with insulin assay is unequaled in world medical literature. The importance of early diagnosis is that the clinical pathology of diabetes – mainly heart disease, high blood pressure, stroke, cataracts, erectile dysfunction, and other metabolic disorders – occurs not only in those with advanced diabetes, but also in those with "normal" blood sugars. YES, this could happen to YOU! When early diagnosis is coupled with specific therapy, the DIABETES EPIDEMIC will be arrested and then reversed. Early diagnosis is the goal of this book – beginning with YOU.
