Download or read book Genetics for ENT Specialists written by Dirk Kunst and published by Remedica. This book was released on 2005 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
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.
Download or read book Textbook of Clinical Otolaryngology written by Abdulsalam Al-Qahtani and published by Springer Nature. This book was released on 2020-12-20 with total page 759 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetics in Otorhinolaryngology written by Ken Kitamura and published by . This book was released on 2000 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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 146 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.
Download or read book Pediatric ENT written by John M. Graham and published by Springer Science & Business Media. This book was released on 2008-07-04 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Preventive Health Care for Children with Genetic Conditions written by Golder Wilson and published by Cambridge University Press. This book was released on 2006-05-11 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: An invaluable, structured approach to the preventive care of children with congenital disorders.
Download or read book Genetics in Otorhinolaryngology written by Ken Kitamura and published by Karger Medical and Scientific Publishers. This book was released on 2000 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Thompson Thompson Genetics in Medicine E Book written by Robert L. Nussbaum and published by Elsevier Health Sciences. This book was released on 2007-08-01 with total page 599 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Usher Syndrome written by Satpal Ahuja and published by . This book was released on 2011 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is just what we needed to gather the knowledge accumulated on Usher syndrome throughout the past fifteen years. The epidemiology and pathophysiology of the disease are discussed in several chapters. The great importance of an early diagnosis of the disease in affected children in order to provide them with appropriate education and therapeutic choices is suitably emphasised. Present therapeutic options as well as the ones under development, based on either physical, cellular, or genetic approaches are also presented. In this book, physicians, ophthalmologists, ENT specialists (Ear, Nose, and Throat specialists) will thus be able to extract information essential to their day-to-day medical practice, whereas scientists will find helpful notions to identify the fundamental issues that remain to be solved.
Download or read book The Chronic Ear written by John L. Dornhoffer and published by Thieme. This book was released on 2016-04-27 with total page 1184 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chronic Ear There are many different ways to treat complex chronic middle ear disease, with ongoing advancements being made globally. Diverse approaches are necessitated for variations in patient age, degree of infection, extent of middle ear remodeling, inflammation severity, and underlying mechanisms of Eustachian tube dysfunction. Addressing multinational and clinical nuances, the editors have compiled 48 chapters with eclectic perspectives from otology experts in 13 countries. The surgical anatomy of the middle ear cleft and mastoid and underlying pathophysiological mechanisms of chronic otitis media are clinically challenging. Articles cover anatomy, physiology, disease characterizations and manifestations, clinical evaluation, office management, surgical procedures, and new horizons. Traditional and newer hybrid techniques for systematic disease and inflammatory conditions are presented in roundtable format, for example, underlay fascia tympanoplasty as well as the use of cartilage and bioengineered materials. Selected Key Topics: Applied middle ear anatomy and physiology Pathologic mechanisms of chronic otitis media Office evaluation, management and surgical decision making Mastoid cavity obliteration and canal wall reconstruction Challenges in tympanoplasty and ossicular chain reconstruction Traditional and hybrid tympanomastoid surgery Hearing implants in the chronic ear This is an exceptional teaching tool for ear surgeons in training as well as a must-have clinical resource for practicing otolaryngologists.
Download or read book ORL head and Neck Nursing written by and published by . This book was released on 2006 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Effects of Genetic Hearing Impairment in the Family written by Dafydd Stephens and published by John Wiley & Sons. This book was released on 2006-10-02 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Gene Doctors written by Yvonne Baskin and published by William Morrow. This book was released on 1984 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Clinical Cardiogenetics written by Hubert F. Baars and published by Springer Nature. This book was released on 2020-09-08 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.
Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
