Nord Guide To Rare Disorders

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.

This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the opportunity for early diagnosis & treatment. Special features include: * A full color atlas of visual clues, cross referenced to disease listings. * Thirteen separate specialty sections with an expert overview to introduce each section. Eminent clinicians from the outstanding research centers in rare diseases give you the current status of research & practical approaches to diagnosis & therapy of the rare diseases in that specialty. * Full reference to more than 250 orphan drugs. Each drug is cross referenced to the appropriate disease description. * Clear language for the Layperson. Though written for physicians, the descriptions of diseases, symptoms & treatments are clear & understandable for patients, educators & others outside the medical profession. Each disease description provides symptomatology, etiology, affected population & a comparison of related disorders. Each disease description contains a list of other resources to consult: voluntary agencies, units of the National Institutes of Health, research centers around the country, etc. Addresses & phone numbers are provided in a central reference. Library Journal: "...PHYSICIAN'S GUIDE...is recommended for medical collections & public libraries with consumer health collections."

Guide to diagnosing and treating rare diseases (one affecting fewer than 200,000 Americans,).

A unique compendium providing comprehensive information on the diagnosis and management of over 1,000 rare diseases and disorders. This fully revised and expanded NORD Compendium of Rare Diseases and Disorders is the most comprehensive and authoritative resource of its kind. The Compendium provides a wealth of quick-reference information and data on more than 1,100 rare diseases and more than 1,100 organizations from signs, symptoms, and etiology to support groups, researchers, and treatments.The book is an invaluable diagnostic tool for physicians in the early identification of rare diseases, for researchers on genetic disorders, for non-profit organizations, and for patients who can often go years with proper diagnosis. While rare or orphan diseases are defined as those affecting fewer than 200,000 people in the United States, more than 25 million Americans are actually suffering from one of them. Due to the passage of the landmark Orphan Drug Act of 1983, together with the work of the National Organization for Rare Diseases, there is heightened awareness of and interest in these conditions among physicians, drug discovery researchers, government officials, and the health insurance industry. The FDA has approved 288 drugs and therapies to treat rare diseases, and over 1,400 products are in development and being tested for future approval since the Orphan Drug Act legislation was passed. An essential reference for ALL Libraries: Medical physician and hospital reference and research Government research, support, and funding Academic research and education Industry development of new drugs and therapies Public patient information, advocacy, and support.

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.

This reference for lay readers and health care professionals presents information on disorders affecting fewer than 200,000 people in the U.S. at any one time. Each of the more than 1,100 entries describes the characteristics, causes, and symptoms of a particular disorder. The extensively cross-referenced volume also features profiles of 680 disease specific organizations as well as 629 umbrella organizations and 77 government agencies. Annotation copyrighted by Book News, Inc., Portland, OR

This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.