Rare Diseases Epidemiology
(Sprache: Englisch)
This inclusive text is the first publication to address rare diseases as a public health problem. The work analyzes the constraints on epidemiological research at the same time as supplying solutions. It organizes the data by rare diseases groups.
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This inclusive text is the first publication to address rare diseases as a public health problem. The work analyzes the constraints on epidemiological research at the same time as supplying solutions. It organizes the data by rare diseases groups.
Klappentext zu „Rare Diseases Epidemiology “
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".
Inhaltsverzeichnis zu „Rare Diseases Epidemiology “
Rare Diseases.- Rare Diseases - Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data.- Methods and Approaches.- Rare Diseases Epidemiology Research.- Evidence-Based Medicine and Rare Diseases.- Prevention, Diagnosis and Services.- The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases.- Patient Registries: Utility, Validity and Inference.- Biobanking in Rare Disorders.- Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases.- Population-Based Surveillance for Rare Congenital and Inherited Disorders: Models and Challenges.- Statistical Methods for the Geographical Analysis of Rare Diseases.- Clinical Trials and Rare Diseases.- Pharmacoepidemiology.- A Regulatory Overview About Rare Diseases.- Economics and Social Epidemiology.- Economic Considerations in the Provision of Treatments for Rare Diseases.- Rare Diseases Social Epidemiology: Analysis of Inequalities.- Quality of Life and Rare Diseases.- Cost of Illness and Economic Evaluation in Rare Diseases.- Epidemiology of Group of Rare Diseases.- The Burden of Rare Cancers in Europe.- Hereditary Channelopathies in Neurology.- Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva.- The Prevalence of Congenital Anomalies in Europe.- Rare Autoimmune Diseases.- Epidemiology of Rare Anaemias in Europe.- Inherited Metabolic Rare Disease.- The Contribution of Rare Diseases to Understanding the Epidemiology of Neurodevelopmental Disabilities.- Policy and Ethics Issues in Rare Diseases.- Creating a European Union Framework for Actions in the Field of Rare Diseases.- National Plans and Strategies on Rare Diseases in Europe.- Ethical Aspects on Rare Diseases.- Patient Organizations Role.- Advocacy Groups and Their Role in Rare Diseases Research.
Bibliographische Angaben
- 2010, 542 Seiten, Maße: 16,6 x 24,4 cm, Gebunden, Englisch
- Herausgegeben von Posada de la Paz, Manuel; Groft, Stephen C.
- Herausgegeben: Manuel Posada de la Paz, Stephen C. Groft
- Verlag: Springer Netherlands
- ISBN-10: 9048194849
- ISBN-13: 9789048194841
Sprache:
Englisch
Rezension zu „Rare Diseases Epidemiology “
From the reviews:"It covers the common components of epidemiology and its collaborating disciplines to demonstrate the concepts, methods, and examples of the epidemiology of rare diseases. ... it is a useful resource for epidemiologists, the book can be used by other researchers and by funding agencies, foundations, and policy makers. ... This is an important state-of-the-art book in rare disease epidemiology. ... an extremely important contribution to the field and will be a useful reference in several disciplines." (James C. Torner, Doody's Review Service, July, 2011)"The book is very well written, and deals with its subject delineated above comprehensively. ... the amount of information presented is very impressive. The multitude of the data presented in the reviewed work make it indispensable for anyone potentially active in the field of the rare diseases ... . this volume will remain the major reference book for quite some time, and highly recommend it to the healthcare planners, general practitioners and those specializing in the field of the rare diseases ... ." (K. Pagava and I. Paghava, Georgian Medical News, Vol. 193 (4), 2011)
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