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NORD Guide to Rare Disorders

NORD Guide to Rare Disorders PDF Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982

Book Description
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.

NORD Guide to Rare Disorders

NORD Guide to Rare Disorders PDF Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982

Book Description
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.

Syndrome Without a Name?

Syndrome Without a Name? PDF Author: Nicola Teresa Coates-Dutton
Publisher:
ISBN:
Category :
Languages : en
Pages :

Book Description


Management of Genetic Syndromes

Management of Genetic Syndromes PDF Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678

Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Asperger's Children: The Origins of Autism in Nazi Vienna

Asperger's Children: The Origins of Autism in Nazi Vienna PDF Author: Edith Sheffer
Publisher: W. W. Norton & Company
ISBN: 0393609650
Category : History
Languages : en
Pages : 283

Book Description
“An impassioned indictment, one that glows with the heat of a prosecution motivated by an ethical imperative.” —Lisa Appignanesi, New York Review of Books In the first comprehensive history of the links between autism and Nazism, prize-winning historian Edith Sheffer uncovers how a diagnosis common today emerged from the atrocities of the Third Reich. As the Nazi regime slaughtered millions across Europe during World War Two, it sorted people according to race, religion, behavior, and physical condition. Nazi psychiatrists targeted children with different kinds of minds—especially those thought to lack social skills—claiming the Reich had no place for them. Hans Asperger and his colleagues endeavored to mold certain “autistic” children into productive citizens, while transferring others to Spiegelgrund, one of the Reich’s deadliest child killing centers. In this unflinching history, Sheffer exposes Asperger’s complicity in the murderous policies of the Third Reich.

Smith's Recognizable Patterns of Human Malformation

Smith's Recognizable Patterns of Human Malformation PDF Author: Kenneth Lyons Jones
Publisher:
ISBN:
Category : Health & Fitness
Languages : en
Pages : 888

Book Description
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.

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309158060
Category : Medical
Languages : en
Pages : 442

Book Description
Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

The Fragile X Syndrome

The Fragile X Syndrome PDF Author: Kay E. Davies
Publisher: Oxford University Press, USA
ISBN:
Category : Language Arts & Disciplines
Languages : en
Pages : 150

Book Description
This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.

Last Child in the Woods

Last Child in the Woods PDF Author: Richard Louv
Publisher: Algonquin Books
ISBN: 156512586X
Category : Family & Relationships
Languages : en
Pages : 414

Book Description
The Book That Launched an International Movement Fans of The Anxious Generation will adore Last Child in the Woods, Richard Louv's groundbreaking New York Times bestseller. “An absolute must-read for parents.” —The Boston Globe “It rivals Rachel Carson’s Silent Spring.” —The Cincinnati Enquirer “I like to play indoors better ’cause that’s where all the electrical outlets are,” reports a fourth grader. But it’s not only computers, television, and video games that are keeping kids inside. It’s also their parents’ fears of traffic, strangers, Lyme disease, and West Nile virus; their schools’ emphasis on more and more homework; their structured schedules; and their lack of access to natural areas. Local governments, neighborhood associations, and even organizations devoted to the outdoors are placing legal and regulatory constraints on many wild spaces, sometimes making natural play a crime. As children’s connections to nature diminish and the social, psychological, and spiritual implications become apparent, new research shows that nature can offer powerful therapy for such maladies as depression, obesity, and attention deficit disorder. Environment-based education dramatically improves standardized test scores and grade-point averages and develops skills in problem solving, critical thinking, and decision making. Anecdotal evidence strongly suggests that childhood experiences in nature stimulate creativity. In Last Child in the Woods, Louv talks with parents, children, teachers, scientists, religious leaders, child-development researchers, and environmentalists who recognize the threat and offer solutions. Louv shows us an alternative future, one in which parents help their kids experience the natural world more deeply—and find the joy of family connectedness in the process. Included in this edition: A Field Guide with 100 Practical Actions We Can Take Discussion Points for Book Groups, Classrooms, and Communities Additional Notes by the Author New and Updated Research from the U.S. and Abroad

Liberal Terror

Liberal Terror PDF Author: Brad Evans
Publisher: John Wiley & Sons
ISBN: 0745665799
Category : Political Science
Languages : en
Pages : 219

Book Description
Security is meant to make the world safer. Yet despite living in the most secure of times, we see endangerment everywhere. Whether it is the threat of another devastating terrorist attacks, a natural disaster or unexpected catastrophe, anxieties and fears define the global political age. While liberal governments and security agencies have responded by advocating a new catastrophic topography of interconnected planetary endangerment, our desire to securitize everything has rendered all things potentially terrifying. This is the fateful paradox of contemporary liberal rule. The more we seek to secure, the more our imaginaries of threat proliferate. Nothing can therefore be left to chance. For everything has the potential to be truly catastrophic. Such is the emerging state of terror normality we find ourselves in today. This illuminating book by Brad Evans provides a critical evaluation of the wide ranging terrors which are deemed threatening to advanced liberal societies. Moving beyond the assumption that liberalism is integral to the realisation of perpetual peace, human progress, and political emancipation on a planetary scale, it exposes how liberal security regimes are shaped by a complex life-centric rationality which directly undermines any claims to universal justice and co-habitation. Through an incisive and philosophically enriched critique of the contemporary liberal practices of making life more secure, Evans forces us to confront the question of what it means to live politically as we navigate through the dangerous uncertainty of the 21st Century.

Rickettsial Diseases

Rickettsial Diseases PDF Author: Didier Raoult
Publisher: CRC Press
ISBN: 142001997X
Category : Medical
Languages : en
Pages : 400

Book Description
The only available reference to comprehensively discuss the common and unusual types of rickettsiosis in over twenty years, this book will offer the reader a full review on the bacteriology, transmission, and pathophysiology of these conditions. Written from experts in the field from Europe, USA, Africa, and Asia, specialists analyze specific patho