Download or read book Waardenburg Syndrome written by Alice Kahn and published by Plural Publishing. This book was released on 2006-06-01 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Download or read book A Dictionary of Nursing written by and published by . This book was released on 2003 with total page 601 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 Clinical Cases in Pigmentary Disorders written by Torello Lotti and published by Springer Nature. This book was released on 2020-08-24 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a guide to the diagnosis and management of pigmentary disorders. Each chapter explores a different clinical case to give the reader an interdisciplinary understanding of treatment options. Particular attention is given to the treatment of hypopigmentation, hypomelanosis and discoloration with cases highlighting the effects of drug intake, genetic alterations and the polluted environment. Clinical Cases in Pigmentary Disorders examines therapeutic approaches through evidence-based best practice techniques and is relevant to dermatologists, oncologists, pharmacologists and pathologists.
Download or read book Syndromes of the Head and Neck written by Robert J. Gorlin and published by McGraw-Hill Companies. This book was released on 1976 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 The Neural Crest written by Nicole Le Douarin and published by Cambridge University Press. This book was released on 1999-11-28 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 1999 edition of The Neural Crest contains comprehensive information about the neural crest, a structure unique to the vertebrate embryo, which has only a transient existence in early embryonic life. The ontogeny of the neural crest embodies the most important issues in developmental biology, as the neural crest is considered to have played a crucial role in evolution of the vertebrate phylum. Data that analyse neural crest ontogeny in murine and zebrafish embryos have been included in this revision. This revised edition also takes advantage of recent advances in our understanding of markers of neural crest cell subpopulations, and a full chapter is now devoted to cell lineage analysis. The major research breakthrough since the first edition has been the introduction of molecular biology to neural crest research, enabling an elucidation of many molecular mechanisms of neural crest development. This book is essential reading for students and researchers in developmental biology, cell biology, and neuroscience.
Download or read book The Pigmentary System written by James J. Nordlund and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 1333 pages. Available in PDF, EPUB and Kindle. Book excerpt: The most comprehensive and integrated book on pigmentation The Pigmentary System, Second Edition, gathers into one convenient, all-inclusive volume a wealth of information about the science of pigmentation and all the common and rare clinical disorders that affect skin color. The two parts, physiology (science) and pathophysiology (clinical disorders), are complementary and annotated so that those reading one part can easily refer to relevant sections in the other. For the clinician interested in common or rare pigment disorders or the principles of teaching about such disorders, this book provides an immediate and complete resource on the biologic bases for these disorders. For the scientist studying the biology of melanocyte function, the book provides a list of disorders that are related to basic biological functions of melanocytes. New features of this Second Edition include: Completely new section on the basic science of pigmentation – explaining the integration of melanocyte functions with other epidermal cells and with various organ systems like the immune system New chapters on pigmentary disorders related to intestinal diseases, the malignant melanocyte, benign proliferations of melanocytes (nevi) and phototherapy with narrow band UV All clinical chapters include the latest genetic findings and advances in therapy More than 400 color images of virtually all clinical disorders The book is ideal for all dermatologists and especially those interested in disorders of pigmentation. It is of particular use for pediatric dermatologists and medical geneticists caring for patients with congenital and genetic pigmentary disorders. This authoritative volume will fill the gap for dermatology training programs that do not have local experts on pigmentation. Basic and cosmetic scientists studying pigmentation and melanocytes will find the science and clinical correlations very useful in showing human significance and relevance to the results of their studies.
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.
Download or read book Vitiligo and Other Hypomelanoses of Hair and Skin written by Jean-Paul Ortonne and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 774 pages. Available in PDF, EPUB and Kindle. Book excerpt: Leukoderma is a generic term for any pigmentary dilution, be it congenital or acquired, circumscribed or generalized, devoid of or partially lacking in pig mentation. In the approach to the diagnosis of leukoderma, we have generally first considered the age of onset, whether leukoderma was congenital or ac quired, the extent and pattern of involvement, and the degree of pigmentary dilution. The organization of this monograph reflects this approach. For ex ample, we have separated the section devoted to various disease entities into diffuse and circumscribed leukoderma and the latter into various etiologies such as genetic, metabolic, infectious, and endocrinologic. One of several justifications for this monograph is to present an approach to the diagnosis of leukoderma, as detailed in Part II. In formulating a guide for the physician, we have found some limitations to our previous approach; we therefore offer the following new classification based upon a clini cal-pathologic correlation. This could provide the means to describe both the clinical and pathologic findings in one term.
Download or read book Deafness in Dogs and Cats written by George M. Strain and published by CABI. This book was released on 2011-03-01 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Smith s Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
Download or read book Neonatal and Infant Dermatology E Book written by Lawrence F. Eichenfield and published by Elsevier Health Sciences. This book was released on 2014-08-25 with total page 752 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neonatal and Infant Dermatology is a unique comprehensive and heavily illustrated reference on the dermatologic diseases of newborns and infants. It includes discussions of common and uncommon conditions seen in infants at birth and in the first few months of life. With over 600 superb photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. - Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. - Get the depth of coverage you need to effectively diagnose skin conditions in neonates and infants. - Expedite effective differential diagnoses with guidance from algorithms, lists, text, boxes and supporting images. - Benefit from the experience of over 60 contributors from around the world lead by Drs. Lawrence F. Eichenfield and Ilona J. Frieden, two of the most important names in the fields of dermatology and pediatrics. - Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. - See what to expect and how to proceed with new, high-quality illustrations and photos that provide even more visual examples of abnormal and normal conditions. - Take it with you anywhere! Access the full text, image library, and more online at Expert Consult.
Download or read book The New Neurotology written by Pedro Luiz Mangabeira Albernaz and published by Springer. This book was released on 2019-04-05 with total page 235 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurotology is a branch of medicine that focuses on diagnosing and treating neurological conditions of the inner ear and related structures. There have been many recent advances in neurotology that have been published in general medicine, otolaryngology and neurology journals. This comprehensive book will aggregate this information to provide a more complete picture of the state of the field and will include the authors’ own clinical experience. There is a recent marked increase in interest in neurotology, manifested by the clinical experiences and research-publication work of otolaryngologists, neurologists, neuro-ophtalmologists, audiologists and physiotherapists. As a result, this will be a completely state-of-the-art work that includes all up-to-date neurophysiological data related to the vestibular system. It has been estimated that 10% of patients that present at an emergency clinic have vestibular disorders, including vertigo, and these disorders are frequently a cause of falls in elderly patients. On the other hand, many physicians treat their patients with vertigo with vestibular blockers, which treat the symptoms but do not cure the disorders. We feel that it is important to supply a source of information on the vestibular system and balance disorders, and this title will do that in a comprehensive manner. This title will be an ideal reference for the diagnosis and treatment of vestibular disorders for otolaryngologists, neurologists, neuro-ophtalmologists, audiologists and physical therapists.
