Download or read book Physicians Guide to Rare Diseases written by Jess G. Thoene and published by Dowden Publishing. This book was released on 1995 with total page 1056 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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."
Download or read book Physicians Guide to Rare Diseases written by Jess G. Thoene and published by Dowden Publishing. This book was released on 1992 with total page 1230 pages. Available in PDF, EPUB and Kindle. Book excerpt: Guide to diagnosing and treating rare diseases (one affecting fewer than 200,000 Americans,).
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 Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book Physician s Guide to the Treatment and Follow Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2003 with total page 770 pages. Available in PDF, EPUB and Kindle. Book excerpt: Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Download or read book Registries for Evaluating Patient Outcomes written by Agency for Healthcare Research and Quality/AHRQ and published by Government Printing Office. This book was released on 2014-04-01 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Rare Diseases and Orphan Drugs written by Jules J. Berman and published by Academic Press. This book was released on 2014-05-26 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases
Download or read book Rare and Uncommon Diseases written by Muhammad Imran Qadir and published by Cambridge Scholars Publishing. This book was released on 2018-10-16 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book explores a number of uncommon diseases, including autism, Asperger’s syndrome, carpal tunnel syndrome, Huntington’s disease, systemic lupus erythematosus, psychosis, rabies, psoriasis, and many more. Each disease is explained with regards to its symptoms, diagnosis, causes and treatment. Keywords are also included to provide a quick indication of the chapter. As such, this volume represents important introductory material for pharmacy, medical and dental students, and scholars in all other health sciences subjects.
Download or read book Orphan Drugs written by Elizabeth Hernberg-Ståhl and published by Elsevier. This book was released on 2013-11-15 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative and comprehensive book makes the reader familiar with the processes of bringing orphan drugs to the global market. There are between 5,000 and 7,000 rare diseases and the number of patients suffering from them is estimated to be more than 50 million in the US and Europe. Before the orphan drug legislation enacted in the US in 1983, there was a limited interest from industry to develop treatment for very small patient groups. One of the difficulties is, of course, that similar levels of investment are needed from a pharmaceutical company to bring a drug to the market for both small and large patient groups.The journey from application of an orphan drug designation to a reimbursed market- approved drug is long and many obstacles occur during the journey.After reading the book, readers will: Understand who the players/stakeholders are in the rare orphan disease field and their specific needs and concerns: patients and patient organizations, researchers and treating physicians within the field, industry, regulatory and reimbursement bodies* Understand the strong partnership between the different players and the various initiatives to improve and increase access to treatment for patients; minimizing the gap between numbers of known diseases, orphan designations, approved drugs and paid drugs.The book also provides short practical case stories from patients and researchers, as well as representatives from industry and authorities on the challenges they came across in developing orphan drugs or getting access to orphan drugs. A comprehensive overview of strategy, key activities and considerations of how to bring an orphan drug from concept to the market and make it available to patients A source of updated information, news and trends for those who are already active in this fast-evolving field Covers the global definitions and the criteria for getting an orphan drug designation in, for example, the US and Europe
Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Download or read book Chasing My Cure written by David Fajgenbaum and published by Ballantine Books. This book was released on 2019-09-10 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: LOS ANGELES TIMES AND PUBLISHERS WEEKLY BESTSELLER • The powerful memoir of a young doctor and former college athlete diagnosed with a rare disease who spearheaded the search for a cure—and became a champion for a new approach to medical research. “A wonderful and moving chronicle of a doctor’s relentless pursuit, this book serves both patients and physicians in demystifying the science that lies behind medicine.”—Siddhartha Mukherjee, New York Times bestselling author of The Emperor of All Maladies and The Gene David Fajgenbaum, a former Georgetown quarterback, was nicknamed the Beast in medical school, where he was also known for his unmatched mental stamina. But things changed dramatically when he began suffering from inexplicable fatigue. In a matter of weeks, his organs were failing and he was read his last rites. Doctors were baffled by his condition, which they had yet to even diagnose. Floating in and out of consciousness, Fajgenbaum prayed for a second chance, the equivalent of a dramatic play to second the game into overtime. Miraculously, Fajgenbaum survived—only to endure repeated near-death relapses from what would eventually be identified as a form of Castleman disease, an extremely deadly and rare condition that acts like a cross between cancer and an autoimmune disorder. When he relapsed while on the only drug in development and realized that the medical community was unlikely to make progress in time to save his life, Fajgenbaum turned his desperate hope for a cure into concrete action: Between hospitalizations he studied his own charts and tested his own blood samples, looking for clues that could unlock a new treatment. With the help of family, friends, and mentors, he also reached out to other Castleman disease patients and physicians, and eventually came up with an ambitious plan to crowdsource the most promising research questions and recruit world-class researchers to tackle them. Instead of waiting for the scientific stars to align, he would attempt to align them himself. More than five years later and now married to his college sweetheart, Fajgenbaum has seen his hard work pay off: A treatment he identified has induced a tentative remission and his novel approach to collaborative scientific inquiry has become a blueprint for advancing rare disease research. His incredible story demonstrates the potency of hope, and what can happen when the forces of determination, love, family, faith, and serendipity collide. Praise for Chasing My Cure “A page-turning chronicle of living, nearly dying, and discovering what it really means to be invincible in hope.”—Angela Duckworth, #1 New York Times bestselling author of Grit “[A] remarkable memoir . . . Fajgenbaum writes lucidly and movingly . . . Fajgenbaum’s stirring account of his illness will inspire readers.”—Publishers Weekly
Download or read book A Physician s Guide to the Management of Huntington s Disease written by Adam Rosenblatt and published by . This book was released on 1999-01-01 with total page 85 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer. This book was released on 2014-08-23 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book Professional Guide to Diseases written by Lippincott ... and published by Lww. This book was released on 2015-04-24 with total page 1296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Organized around disease clusters, this comprehensive guide to disease information, ranging from causes, signs and symptoms, and diagnosis through treatment and special considerations, has been updated with the latest in original research and practice guidelines and designed to provide a brief yet comprehensive overview of a large array of disease processes. --from publisher description.
