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Author: Alice Kahn Publisher: Plural Publishing ISBN: Category : Medical Languages : en Pages : 154
Book Description
From the Publisher: Waardenburg syndrome often goes undetected and undiagnosed as many healthcare professionals are unaware of this syndrome. This text represents the first publication dedicated entirely to Waardenburg syndrome and is an essential resource for identification, diagnosis, and treatment. It introduces basic genetic concepts, explains the four types of Waardenburg syndrome, and provides practical guidance in recognizing individuals with the syndrome, including color photographs that highlight diagnostic features and incidence of the syndrome in families, testing for hearing, and counseling patients and parents. It then provides a comprehensive plan of action for treating patients, and encourages readers to understand when and how to appropriately refer patients to the craniofacial team for genetic assessment. Resource materials for both clinicians and clients are also included.
Author: Alice Kahn Publisher: Plural Publishing ISBN: Category : Medical Languages : en Pages : 154
Book Description
From the Publisher: Waardenburg syndrome often goes undetected and undiagnosed as many healthcare professionals are unaware of this syndrome. This text represents the first publication dedicated entirely to Waardenburg syndrome and is an essential resource for identification, diagnosis, and treatment. It introduces basic genetic concepts, explains the four types of Waardenburg syndrome, and provides practical guidance in recognizing individuals with the syndrome, including color photographs that highlight diagnostic features and incidence of the syndrome in families, testing for hearing, and counseling patients and parents. It then provides a comprehensive plan of action for treating patients, and encourages readers to understand when and how to appropriately refer patients to the craniofacial team for genetic assessment. Resource materials for both clinicians and clients are also included.
Author: Bruno Bissonnette Publisher: McGraw-Hill Education / Medical ISBN: Category : Medical Languages : en Pages : 988
Book Description
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.
Author: Torello Lotti Publisher: Springer Nature ISBN: 3030508234 Category : Medical Languages : en Pages : 198
Book Description
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.
Author: Patrick J. Willems Publisher: CRC Press ISBN: 0824756886 Category : Medical Languages : en Pages : 453
Book Description
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: Helga V. Toriello Publisher: Oxford University Press ISBN: 0199313881 Category : Medical Languages : en Pages : 749
Book Description
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: James J. Nordlund Publisher: John Wiley & Sons ISBN: 140515733X Category : Medical Languages : en Pages : 1333
Book Description
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.
Author: Nicole Le Douarin Publisher: Cambridge University Press ISBN: 9780521620109 Category : Medical Languages : en Pages : 494
Book Description
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.
Author: B. Vona Publisher: Karger Medical and Scientific Publishers ISBN: 3318058564 Category : Medical Languages : en Pages : 158
Book Description
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: Alice Kahn
Author: Alice Kahn
Author: Bruno Bissonnette
Author: 
Author: Torello Lotti
Author: Patrick J. Willems
Author: Helga V. Toriello
Author: Robert J. Gorlin
Author: James J. Nordlund
Author: Nicole Le Douarin
Author: B. Vona