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The most prevalent ENT disorders are those that affect hearing. Approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders. This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders.
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.
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.
This textbook provides a comprehensive overview of the state of the art in otolaryngology, discussing all the newly advances in the subspecialties of head and neck, plastics, otology, laryngology, rhinology and pediatrics, and also addressing topics like allergy, sleep medicine, trauma, and the fundamentals of systemic diseases that frequently manifest in the head and neck region. The book is divided into 9 sections, presenting the recent literature concerning all the subspecialties in otolaryngology and providing the information necessary for readers to gain an understanding of the field of otolaryngology. Each chapter includes definitions, key points and take-home messages, to aid learning. Throughout the book, tips and key features are highlighted with boxes, tables and figures, which the reader can refer back to for quick revision. Above all, the book enables medical students, residents and junior specialists in the field of ENT to develop their learning and surgical skills.
Provides health professionals with a structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.
This concise textbook covers all the practical and theoretical aspects necessary for those taking exams or wishing to update their knowledge of pediatric ENT medicine. The book is divided into sections covering rhinology, otology and head and neck problems. Uniformly structured chapters, written by internationally recognized experts in their fields, cover all relevant topics comprehensively and succinctly. The book includes more than 300 figures, almost half in color. This useful and reader-friendly textbook will be inspirational to young specialists with an interest in pediatric ENT, useful to those who are due to take their final exams, and informative for established specialists.
How can genetics be useful to general otorhinolaryngologists and their patients? This book summarizes the most recent information on genetic diseases, including deafness and head-and-neck cancer, that is relevant to clinical practice, particularly with reference to accurate genetic counseling. The first part of the volume presents a basic and general review of genetics. Up-to-date information on deafness genes is given and the mouse model for hearing impairment is thoroughly described. The application of molecular analysis of head-and-neck carcinoma has been one of the fundamental breakthroughs in understanding the cell biology of the carcinoma. Two chapters are devoted to the discussion of tumor suppressor genes and oncogenes. This book is highly recommended since genetics, particularly molecular genetics, is still an unfamiliar subject to otorhinolaryngologists.Yet there is a constant need to be alert to the possibility of diagnosing hereditary disorders and to obtain genetic consultation for a complete evaluation. A comprehensive list of references is given for those who wish to find more detailed information.
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.
Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.