Chronic Illnesses Syndromes And Rare Disorders

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Rare Diseases and Orphan Products

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309158060
Total Pages : 442 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Rare Diseases and Orphan Products by : Institute of Medicine

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.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Registries for Evaluating Patient Outcomes

Author : Agency for Healthcare Research and Quality/AHRQ
Publisher : Government Printing Office
ISBN 13 : 1587634333
Total Pages : 396 pages
Book Rating : 4.5/5 (876 download)

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Book Synopsis Registries for Evaluating Patient Outcomes by : Agency for Healthcare Research and Quality/AHRQ

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.

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

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.

Rare Diseases in the Age of Health 2.0

Author : Rajeev K. Bali
Publisher : Springer Science & Business Media
ISBN 13 : 3642386431
Total Pages : 307 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis Rare Diseases in the Age of Health 2.0 by : Rajeev K. Bali

Download or read book Rare Diseases in the Age of Health 2.0 written by Rajeev K. Bali and published by Springer Science & Business Media. This book was released on 2013-10-21 with total page 307 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Physicians' Guide to Rare Diseases

Author : Jess G. Thoene
Publisher : Dowden Publishing
ISBN 13 :
Total Pages : 1056 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Physicians' Guide to Rare Diseases by : Jess G. Thoene

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."

Rare Genetic Disorders

Author : Muhammad Umair
Publisher : Springer Nature
ISBN 13 : 9819993237
Total Pages : 283 pages
Book Rating : 4.8/5 (199 download)

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Book Synopsis Rare Genetic Disorders by : Muhammad Umair

Download or read book Rare Genetic Disorders written by Muhammad Umair and published by Springer Nature. This book was released on with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Rare Diseases

Author : Mani T. Valarmathi
Publisher : BoD – Books on Demand
ISBN 13 : 1839629304
Total Pages : 152 pages
Book Rating : 4.8/5 (396 download)

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Book Synopsis Rare Diseases by : Mani T. Valarmathi

Download or read book Rare Diseases written by Mani T. Valarmathi and published by BoD – Books on Demand. This book was released on 2021-09-22 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.

Rare and Uncommon Diseases

Author : Muhammad Imran Qadir
Publisher : Cambridge Scholars Publishing
ISBN 13 : 1527519503
Total Pages : 168 pages
Book Rating : 4.5/5 (275 download)

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Book Synopsis Rare and Uncommon Diseases by : Muhammad Imran Qadir

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.

Communicating Rare Diseases and Disorders in the Digital Age

Author : Costa, Liliana Vale
Publisher : IGI Global
ISBN 13 : 1799820890
Total Pages : 412 pages
Book Rating : 4.7/5 (998 download)

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Book Synopsis Communicating Rare Diseases and Disorders in the Digital Age by : Costa, Liliana Vale

Download or read book Communicating Rare Diseases and Disorders in the Digital Age written by Costa, Liliana Vale and published by IGI Global. This book was released on 2020-01-03 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: A primary concern of rare disease diagnosis is the lack of accurate information that may lead to delayed interventions, administering inaccurate treatments, and social consequences. Health communication continues to be one-way and rely on the expertise from the health practitioner. In such a broad spectrum of rare diseases, patients may find it difficult to obtain timely information, accurate diagnosis, and appropriate treatments, surgeries, medications, or psychological counseling in their own countries. The use of information and communication technologies can create new communication channels that address this lack of knowledge. Communicating Rare Diseases and Disorders in the Digital Age is an essential reference source that uses computer-mediated communication to improve patient knowledge when afflicted or dealing with rare health conditions. Featuring research on topics such as support networking, eHealth management, and social computing, this book is ideally designed for health practitioners, physicians, patients, medical administrators, nurses, surgeons, infectious disease educators, hospital directors, world health organizations, academicians, students, and researchers seeking coverage on current advances in health communication, computer science, and epidemiology.

Rare Diseases and Orphan Drugs

Author : Jules J. Berman
Publisher : Academic Press
ISBN 13 : 0124200095
Total Pages : 407 pages
Book Rating : 4.1/5 (242 download)

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Book Synopsis Rare Diseases and Orphan Drugs by : Jules J. Berman

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

Rare Diseases

Author : Zhan He Wu
Publisher : BoD – Books on Demand
ISBN 13 : 1838800239
Total Pages : 250 pages
Book Rating : 4.8/5 (388 download)

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Book Synopsis Rare Diseases by : Zhan He Wu

Download or read book Rare Diseases written by Zhan He Wu and published by BoD – Books on Demand. This book was released on 2020-03-25 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark in the field of rare diseases has revolutionized modern human medicine with exciting and advancing developments of the genomic era over the last two decades. Patients with rare diseases have been receiving increasing benefits in care and life quality improvements than ever before. This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. It is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.

Chronic Illnesses, Syndromes, and Rare Disorders

Author : Marlene Targ Brill
Publisher : Rowman & Littlefield
ISBN 13 : 144225162X
Total Pages : 246 pages
Book Rating : 4.4/5 (422 download)

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Book Synopsis Chronic Illnesses, Syndromes, and Rare Disorders by : Marlene Targ Brill

Download or read book Chronic Illnesses, Syndromes, and Rare Disorders written by Marlene Targ Brill and published by Rowman & Littlefield. This book was released on 2016-08-04 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: In addition to providing specific information about a number of conditions that affect thousands of teens every year—Celiac, Crohns, Down Syndrome, Hemophilia, Melanoma, Multiple Sclerosis, Phenylketonuria, Sickle Cell, and Tourette Syndrome—this book also offers general advice to teens who face medical challenges in general. An invaluable resource for young adults and their families, Chronic Illnesses, Syndromes, and Rare Disorders: The Ultimate Teen Guide offers hope to the many thousands of people looking for answers.

Rare Diseases Epidemiology: Update and Overview

Author : Manuel Posada de la Paz
Publisher : Springer
ISBN 13 : 3319671448
Total Pages : 667 pages
Book Rating : 4.3/5 (196 download)

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Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz

Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 667 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Rare Diseases and Syndromes of the Spinal Cord

Author : Ibrahim M. Eltorai
Publisher : Springer
ISBN 13 : 9783319832234
Total Pages : 0 pages
Book Rating : 4.8/5 (322 download)

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Book Synopsis Rare Diseases and Syndromes of the Spinal Cord by : Ibrahim M. Eltorai

Download or read book Rare Diseases and Syndromes of the Spinal Cord written by Ibrahim M. Eltorai and published by Springer. This book was released on 2018-07-07 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of rare diseases and syndromes of the spinal cord, collected over the past forty years from all the world's literature. Each chapter in this volume is organized in the same easy-to-follow format, comprising definitions, incidence, etiology, clinical presentation, diagnosis, management, prognosis, and references. This book is aimed at medical students, residents, fellows, and junior attendings in spinal cord medicine, physical medicine, neurosurgery, orthopedics, oncology, emergency medicine, infectious disease, neurology, genetics, vascular surgery, and endocrinology, along with the numerous allied fields of physical therapy, nursing, occupational therapy, and biomedical researchers.

Physicians' Guide to Rare Diseases

Author : Jess G. Thoene
Publisher : Dowden Publishing
ISBN 13 :
Total Pages : 1230 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Physicians' Guide to Rare Diseases by : Jess G. Thoene

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,).

Unusual Diseases with Common Symptoms

Author : Anthony M Szema
Publisher : Springer
ISBN 13 : 9783319589510
Total Pages : 238 pages
Book Rating : 4.5/5 (895 download)

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Book Synopsis Unusual Diseases with Common Symptoms by : Anthony M Szema

Download or read book Unusual Diseases with Common Symptoms written by Anthony M Szema and published by Springer. This book was released on 2017-11-16 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents detailed case reports of unusual diseases with common symptoms, many of which have emerged in the past decade as a result of nature, advances in medical treatment, and increasing recognition of specific underpinnings of human biology and immunology. These rare diseases must now be considered when the mundane diagnoses do not exactly fit the patient’s clinical history or treatment fails. Some of these diseases include: eosinophilic esophagitis, blastocystis hominis infection, and paromyces allergic fungal sinusitis. Chapters provide in depth clinical examples of a wide range of diseases affecting multiple organ systems. Each case is structured by: a vignette of the case, background / salient features of the case, diagnosis, treatment, key points, and questions to aid in critical thinking. Unusual Diseases with Common Symptoms: A Clinical Casebook is of great interest to practicing physicians and as a teaching resource for students and residents who will one day encounter conditions more complex than they initially appear.