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Migration from different parts of the world to several European countries leads to the introduction of haemoglobinopathy genes into the population, which creates several demanding needs for prevention and treatment services for Hb disorders. In this paper we examined the degree to which European health services have responded to such challenges and in particular to […]
…This paper investigates the impact of the introduction of new orphan drugs on premature mortality from rare diseases using longitudinal, disease-level data obtained from a number of major databases. The analysis is performed using data from two countries: the United States (during the period 1999-2006) and France (during the period 2000-2007). For both countries, we […]
…The development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, […]
…Many neurological diseases or conditions are rare disorders. The Orphan Drug Act (ODA) of 1983 was promulgated to promote the development of products for such conditions. In this Opinion piece, we discuss how the ODA has affected neurological diseases, note how current and future sponsors (any person(s) or entity (i.e., academic, corporate body, individual, manufacturer) […]
…Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. While there are clear limitations to the methodology of case studies […]
…This study investigates the relative influence of the regional availability of health care resources (measured by physician densities, number of health care centers) on health care quality (measured by delay in diagnosis), based on data for the rare disease Marfan Syndrome.Administrative data from 389 patients with Marfan Syndrome were analyzed. Logistic regression models were applied […]
…The use of the Internet for searching and sharing health information and for health care interactions may have a great potential for families of children affected with rare diseases. We conducted an online survey among Italian families of patients with rare diseases with the objective to describe their Internet user profile, and to explore how […]
…The Italian National Centre for Rare Diseases (CNMR) is the result of a strategic approach, which the National Institute of Health (ISS) has been developing for more than 10 years, to deal with the public health challenges associated with rare diseases (RDs). The CNMR was formally established within the ISS in 20081. Its mission is […]
…Italy was one of the first Member States (MS) in the European Union (EU) to regulate the field of rare diseases (RD). Since 2001, many initiatives were carried out at central and regional level. The development of a national plan or strategy for RD stems from the necessity to fulfill the EU Commission Recommendation to […]
…Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a network of regional registries. The latter have gradually been established and the full coverage of the Italian territory […]
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