Waardenburg Syndrome PDF Download
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Author: Alice Kahn
Publisher: Plural Publishing
ISBN: 1597567620
Category : Medical
Languages : en
Pages : 151
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Book Description
Author: Alice Kahn
Publisher: Plural Publishing
ISBN: 1597567620
Category : Medical
Languages : en
Pages : 151
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Book Description
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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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:
Publisher:
ISBN: 0199211779
Category : Nursing
Languages : en
Pages : 601
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Book Description
Author: Patrick J. Willems
Publisher: CRC Press
ISBN: 0824756886
Category : Medical
Languages : en
Pages : 453
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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: Torello Lotti
Publisher: Springer Nature
ISBN: 3030508234
Category : Medical
Languages : en
Pages : 198
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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: Jean-Paul Ortonne
Publisher: Springer Science & Business Media
ISBN: 1461592720
Category : Medical
Languages : en
Pages : 774
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Book Description
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.
Author: Thomas Brandt
Publisher: Springer Science & Business Media
ISBN: 1447133420
Category : Medical
Languages : en
Pages : 347
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Book Description
A variety of syndromes are hidden behind the term vertigo; the interdisciplinary approach here shows how surprisingly easy it is to correctly diagnose and effectively treat them. The book's clinical practicality uncovers the key elements necessary for understanding vertigo: the sensorimotor physiology, careful history-taking, and otoneurological examination. For each syndrome, there is a full description of the clinical features and diagnostic procedure. Numerous tables and thorough cross-referencing guide you to differential diagnosis. Special emphasis is placed on the relationship between the management and the underlying pathological mechanism of the disease.
Author: Helga V. Toriello
Publisher: Oxford University Press
ISBN: 0199313881
Category : Medical
Languages : en
Pages : 749
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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: B. Vona
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318058564
Category : Medical
Languages : en
Pages : 158
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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: James J. Nordlund
Publisher: John Wiley & Sons
ISBN: 140515733X
Category : Medical
Languages : en
Pages : 1333
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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.
