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Rare Diseases And Orphan Drugs

Author: Jules J. Berman
Publisher: Academic Press
ISBN: 0124200095
Size: 62.66 MB
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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.

Undiagnosed And Rare Diseases In Children An Issue Of Pediatric Clinics Of North America

Author: Robert M. Kliegman
Publisher: Elsevier Health Sciences
ISBN: 0323496725
Size: 62.15 MB
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Dr. Kliegman and Dr. Bordini have written a primer on Undiagnosed and Rare Diseases in Children. Leading experts have presented the current knowledge in the following areas: How Doctor’s Think: Common Diagnostic Errors in Clinical Judgment; Team-Based Approach to Undiagnosed and Rare Diseases; Ending a Diagnostic Odyssey: Family Education Counselling and Their Response to Eventual Diagnosis; Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases; Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes; When Autistic Behavior Suggests a Disease Other than Classic Autism; Non-classic Inflammatory Bowel Disease in Young Infants; IPEX and Other Disorders; Usual and Unusual Presentation of Mitochondrial Disorders; When to Suspect Auto-inflammatory/Recurrent Fever Syndromes; Primary and Secondary Causes of Autonomic Dysfunction; Usual and Unusual Manifestations of Systemic and CNS Vasculitis; Fever of Unknown Origin; Differentiating Familial Neuropathies from Guillain-Barre Syndrome; and Munchausen by Proxy: A Factitious Undiagnosed Disease. Readers will come away with cutting-edge information to use immediately in their clinical management of patients.

Precision Medicine And The Reinvention Of Human Disease

Author: Jules J. Berman
Publisher: Academic Press
ISBN: 0128143940
Size: 21.86 MB
Format: PDF, Kindle
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Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ among individuals, based on genetic and environmental conditions. We are currently developing rational therapies and preventive measures, based on our precise understanding of the steps leading to the clinical expression of diseases. Precision Medicine and the Reinvention of Human Disease explains the scientific breakthroughs that have changed the way that we understand diseases, and reveals how medical scientists are using this new knowledge to launch a medical revolution. Clarifies the foundational concepts of Precision Medicine, distinguishing this field from its predecessors such as genomics, pharmacogenetics, and personalized medicine. Gathers the chief conceptual advances in the fields of genetics, pathology, and bioinformatics, and synthesizes a coherent narrative for the field of Precision Medicine. Delivers its message in plain language, and in a relaxed, conversational writing style, making it easy to understand the complex subject matter. Guides the reader through a coherent and logical narrative, gradually providing expertise and skills along the way. Covers the importance of data sharing in Precision Medicine, and the many data-related challenges that confront this fragile new field.

Physicians Guide To Rare Diseases

Author: Jess G. Thoene
Publisher: Dowden Publishing Company
ISBN: 9780962871610
Size: 62.14 MB
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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 recommended for medical collections & public libraries with consumer health collections."

Nord Guide To Rare Disorders

Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Size: 29.99 MB
Format: PDF, Kindle
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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.

Repurposing Legacy Data

Author: Jules J. Berman
Publisher: Elsevier
ISBN: 0128029153
Size: 36.42 MB
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Repurposing Legacy Data: Innovative Case Studies takes a look at how data scientists have re-purposed legacy data, whether their own, or legacy data that has been donated to the public domain. Most of the data stored worldwide is legacy data—data created some time in the past, for a particular purpose, and left in obsolete formats. As with keepsakes in an attic, we retain this information thinking it may have value in the future, though we have no current use for it. The case studies in this book, from such diverse fields as cosmology, quantum physics, high-energy physics, microbiology, psychiatry, medicine, and hospital administration, all serve to demonstrate how innovative people draw value from legacy data. By following the case examples, readers will learn how legacy data is restored, merged, and analyzed for purposes that were never imagined by the original data creators. Discusses how combining existing data with other data sets of the same kind can produce an aggregate data set that serves to answer questions that could not be answered with any of the original data Presents a method for re-analyzing original data sets using alternate or improved methods that can provide outcomes more precise and reliable than those produced in the original analysis Explains how to integrate heterogeneous data sets for the purpose of answering questions or developing concepts that span several different scientific fields

Enfermedades Raras Y Medicamentos Hu Rfanos

Author: Jules J. Berman
Publisher: Elsevier España
ISBN: 8490229678
Size: 20.88 MB
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«Este libro sobre enfermedades raras es un libro raro. Pocos autores disponen de conocimientos lo suficientemente amplios para abarcar la disciplina de las enfermedades raras. Jules J. Berman, muy conocido en el ámbito de la informática médica, guía al lector a través de una combinación de historia, genética, medicina y comentarios sociales sobre trastornos frecuentes que se comparan con otros raros. Es un libro fácil de leer, interesante e increíblemente entretenido. No es un tratado ni un compendio, pero cualquier persona interesada en las enfermedades raras disfrutará con esta lectura singular e informativa.» —M. Ian Phillips, Editor, Expert Opinion on Orphan Drugs; Director, Center for Rare Disease Therapies, Keck Graduate Institute, Claremont, CA, EE.UU.

Rare Diseases In The Age Of Health 2 0

Author: Rajeev K. Bali
Publisher: Springer Science & Business Media
ISBN: 3642386431
Size: 35.29 MB
Format: PDF, Docs
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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.

Orphan Drugs And Rare Diseases

Author: David C Pryde
Publisher: Royal Society of Chemistry
ISBN: 1849738068
Size: 20.27 MB
Format: PDF, ePub
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This book provides an up-to-date monograph on the drug discovery and regulatory elements of therapeutics used to treat rare or "orphan" diseases.

Registries For Evaluating Patient Outcomes

Author: Agency for Healthcare Research and Quality/AHRQ
Publisher: Government Printing Office
ISBN: 1587634333
Size: 62.15 MB
Format: PDF, ePub
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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.