Rare Diseases Epidemiology

Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
Publisher : Springer
Page : 667 pages
File Size : 47,7 Mb
Release : 2017-12-06
Category : Medical
ISBN : 9783319671444

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Rare Diseases Epidemiology: Update and Overview by Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft Pdf

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.

Author : Manuel Posada de la Paz,Stephen C. Groft
Publisher : Springer
Page : 542 pages
File Size : 42,6 Mb
Release : 2010-09-18
Category : Medical
ISBN : 9048194849

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Rare Diseases Epidemiology by Manuel Posada de la Paz,Stephen C. Groft Pdf

In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.

Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development
Publisher : National Academies Press
Page : 442 pages
File Size : 44,8 Mb
Release : 2011-04-03
Category : Medical
ISBN : 9780309158060

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Rare Diseases and Orphan Products by Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development Pdf

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.

Author : Manuel Posada de la Paz,Stephen C. Groft
Publisher : Springer
Page : 542 pages
File Size : 45,7 Mb
Release : 2012-11-07
Category : Medical
ISBN : 9400733380

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Rare Diseases Epidemiology by Manuel Posada de la Paz,Stephen C. Groft Pdf

In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
Page : 982 pages
File Size : 53,6 Mb
Release : 2003
Category : Medical
ISBN : 0781730635

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NORD Guide to Rare Disorders by National Organization for Rare Disorders Pdf

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.

Author : Tarun Weeramanthri,Hugh Dawkins,Gareth Baynam,Matthew Bellgard,Ori Gudes,James Semmens
Publisher : Frontiers Media SA
Page : 149 pages
File Size : 45,9 Mb
Release : 2018-06-25
Category : Electronic
ISBN : 9782889455010

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Precision Public Health by Tarun Weeramanthri,Hugh Dawkins,Gareth Baynam,Matthew Bellgard,Ori Gudes,James Semmens Pdf

Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.

Author : Agency for Healthcare Research and Quality/AHRQ
Publisher : Government Printing Office
Page : 396 pages
File Size : 40,8 Mb
Release : 2014-04-01
Category : Medical
ISBN : 9781587634338

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Registries for Evaluating Patient Outcomes by Agency for Healthcare Research and Quality/AHRQ Pdf

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.

Author : Raj S. Bhopal
Publisher : Oxford University Press
Page : 481 pages
File Size : 51,5 Mb
Release : 2016
Category : Medical
ISBN : 9780198739685

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Concepts of Epidemiology by Raj S. Bhopal Pdf

First edition published in 2002. Second edition published in 2008.

Author : Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis
Publisher : Oxford University Press
Page : 701 pages
File Size : 49,8 Mb
Release : 2010-01-20
Category : Medical
ISBN : 9780195398441

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Human Genome Epidemiology, 2nd Edition by Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis Pdf

This text describes the role that epidemiologic methods play in the continuum from gene discovery to the development and application of genetic tests. It provides a foundation that should help researchers, policy makers and practitioners integrate genomics into medical and public health practice.

Author : Zygmund William Birnbaum,Monroe G. Sirken
Publisher : Unknown
Page : 28 pages
File Size : 55,6 Mb
Release : 1965
Category : Health surveys
ISBN : COLUMBIA:HS64663841

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Design of Sample Surveys to Estimate the Prevalence of Rare Diseases: Three Unbiased Estimates by Zygmund William Birnbaum,Monroe G. Sirken Pdf

Author : National Research Council,Division on Earth and Life Studies,Nuclear and Radiation Studies Board,Committee on the Analysis of Cancer Risks in Populations near Nuclear Facilitiesâ¬"Phase I
Publisher : National Academies Press
Page : 424 pages
File Size : 46,5 Mb
Release : 2012-06-29
Category : Medical
ISBN : 9780309255714

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Analysis of Cancer Risks in Populations Near Nuclear Facilities by National Research Council,Division on Earth and Life Studies,Nuclear and Radiation Studies Board,Committee on the Analysis of Cancer Risks in Populations near Nuclear Facilitiesâ¬"Phase I Pdf

In the late 1980s, the National Cancer Institute initiated an investigation of cancer risks in populations near 52 commercial nuclear power plants and 10 Department of Energy nuclear facilities (including research and nuclear weapons production facilities and one reprocessing plant) in the United States. The results of the NCI investigation were used a primary resource for communicating with the public about the cancer risks near the nuclear facilities. However, this study is now over 20 years old. The U.S. Nuclear Regulatory Commission requested that the National Academy of Sciences provide an updated assessment of cancer risks in populations near USNRC-licensed nuclear facilities that utilize or process uranium for the production of electricity. Analysis of Cancer Risks in Populations near Nuclear Facilities: Phase 1 focuses on identifying scientifically sound approaches for carrying out an assessment of cancer risks associated with living near a nuclear facility, judgments about the strengths and weaknesses of various statistical power, ability to assess potential confounding factors, possible biases, and required effort. The results from this Phase 1 study will be used to inform the design of cancer risk assessment, which will be carried out in Phase 2. This report is beneficial for the general public, communities near nuclear facilities, stakeholders, healthcare providers, policy makers, state and local officials, community leaders, and the media.

Author : Samden Lhatoo
Publisher : Oxford University Press
Page : 395 pages
File Size : 48,8 Mb
Release : 2013
Category : Medical
ISBN : 9780199659043

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Oxford Textbook of Epilepsy and Epileptic Seizures by Samden Lhatoo Pdf

Part of the Oxford Textbooks in Clinical Neurology (OTCN) series, this volume covers the scientific basis, clinical diagnosis, and treatment of epilepsy and epileptic seizures, and is complemented by an online edition.

Author : Mani T. Valarmathi
Publisher : BoD – Books on Demand
Page : 152 pages
File Size : 54,8 Mb
Release : 2021-09-22
Category : Medical
ISBN : 9781839629303

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Rare Diseases by Mani T. Valarmathi Pdf

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.

Author : Masakazu Washio,Gen Kobashi
Publisher : Springer
Page : 183 pages
File Size : 41,6 Mb
Release : 2018-09-14
Category : Medical
ISBN : 9789811310966

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Epidemiological Studies of Specified Rare and Intractable Disease by Masakazu Washio,Gen Kobashi Pdf

This book presents research findings from epidemiological studies investigating chronic and intractable diseases with unidentifiable causes from a clinical perspective. Each chapter provides the latest findings on specific diseases, including procedures for their study, insights into their causes, risk factors and preventive factors providing a foundation for new ideas and further development as well as establishing treatment procedures. Epidemiological Studies of Specified Rare and Intractable Disease(Nanbyo in Japanese) is a valuable resource for both new and established researchers as well as students who are seeking information on public health and on environmental and clinical epidemiology.

Author : Paul A. Schulte,Frederica P. Perera
Publisher : Academic Press
Page : 609 pages
File Size : 40,7 Mb
Release : 2012-12-02
Category : Medical
ISBN : 9780323138574

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Molecular Epidemiology by Paul A. Schulte,Frederica P. Perera Pdf

This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.