RARE DISEASES AND GENETIC DISCRIMINATION

Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world. From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease.Main characteristics of rare diseases include:· Rare diseases are often chronic, progressive, degenerative, and often life-threatening· Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy· High level of pain and suffering for the patient and his/ her family · No existing effective cure· There are between 6000 and 8000 rare diseases· 75% of rare diseases affect children· 30% of rare disease patients die before the age of 5· 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies. The period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments. Living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatisation, isolation, exclusion from social community, discrimination for insurance subscription (health insurance, travel insurance, mortgage), and often reduced professional opportunities.Innovative treatments are often unevenly available in the EU because of delays in price determination and/or reimbursement decision, lack of experience of the treating physicians (not enough physicians involved in rare diseases clinical trials), and the absence of treatment consensus recommendations.It is fundamental to realise that rare diseases can affect any family at any time. It is not just “something terrible that happens to other people”. It is a very cruel reality that can happen to anyone, either when having a child or in the course of one’s own life.In fact, the terminology “rare diseases” only highlights the characteristic of rarity of the complex and heterogeneous mosaic of an estimated 7,000 life-threatening and heavily debilitating conditions.The rare diseases for which a simple and effective preventive treatment is available are being screened for, as part of public health policy. But this is not enough, and it is essential for public authorities to consider rare diseases as a Public Health priority and take action to concretely support patients and families affected by rare diseases.As underlined in the Background Paper on Orphan Diseases for the World Health Organisation Report on Priority Medicines for Europe and the World, “despite the growing public awareness of rare diseases in the last one or two decades, there are still many gaps in knowledge related to the development of treatment for rare diseases. Policymakers have to realise that rare diseases are a crucial health issue for about 30 million people in the EU”.A good medication for rare disease patients is a medication that is both available in the country where they live and affordable. If one of these two factors is missing, the drug is of little use.Personalized medicine however is an emerging term for a medical philosophy that uses a person’s individual clinical, genetic, genomic, and environmental information to tailor a treatment plan that will maximize efficacy and safety for that individual. While the technology offers much promise, it also is also challenged by some ethical and social questions in both its clinical application and in its research enterprise. Questions about privacy, safety, phenotypical expression, drug interactions, and genetic vs. social group identities will challenge clinical pharmacogenetics

PATIENT SAFETY AND HEALTHCARE-ASSOCIATED INFECTIONS

Healthcare-associated infections are infections caused by a wide variety of common and unusual bacteria, fungi, and viruses during the course of receiving medical care. Medical advances have brought lifesaving care to patients in need, yet many of those advances come with a risk of healthcare-associated infection. These infections related to medical care can be devastating and even deadly. As the ability to prevent healthcare-associated infections grows, these infections are increasingly unacceptable.Recent successes in healthcare-associated infections elimination have been very encouraging. Examples include sustained reduction in central line-associated bloodstream infections by 70%, simply by ensuring adherence to available guidelines. Reductions have been demonstrated for other helthcare-associated infections as well, but, much more remains to be done.Wherever patient care is provided, adherence to infection prevention guidelines is needed to ensure that all care is safe care. This includes traditional hospital settings as well as outpatient surgery centers, long-term care facilities, rehabilitation centers, and community clinics

The Fifth National Information Day: Open Access to Scientific Information and Data

This work was supported in part by the EU „2nd Generation Open Access Infrastructure for Research in Europe" (OpenAIRE+). The autumn training school Development and Promotion of Open Access to Scientific Information and Research is organized in the frame of the Fourth International Conference on Digital Presentation and Preservation of Cultural and Scientific Heritage—DiPP2014 (September 18–21, 2014, Veliko Tarnovo, Bulgaria, http://dipp2014.math.bas.bg/), organized under the UNESCO patronage. The main organiser is the Institute of Mathematics and Informatics, Bulgarian Academy of Sciences with the support of EU project FOSTER (http://www.fosteropenscience.eu/) and the P. R. Slaveykov Regional Public Library in Veliko Tarnovo, Bulgaria

A PILOT STUDY OF DIETARY INTAKE IN CHILDREN

Adequate and balanced import of essential nutrients is of particular importance for the developing child's organism. The purpose of the present study was to examine the intake of main macronutrients (proteins, carbohydrates, fats) from the daily diets of children aged 3 - 15 years. Material and methods: Subjects of the study were 45 children at the average age of 7 ± 2.73 years. Based on children and parents’ data, 24-hour dietary registers were obtained for all studied children. The data on received food and fluids from the registers were analyzed, and the daily energy intake values (E%) of proteins, carbohydrates and fats were derived. Results: For all studied children, mean values of protein intake of 15.8 ± 3.5 E%, fat intake of 38.1 ± 7.5 E% and carbohydrate intake of 49.5 ± 7.31 E% were found. Conclusion: The study results show that protein and carbohydrate intake values are consistent with the physiological norms for the age, while the fat intake values are above the recommended in our young patients

IMPLEMENTING OF EDUCATION IN BIOETHICS AT CONTEMPORARY SCHOOLS – FACTOR FOR HEALTHY LIFESTYLE OF THE GROWING UP GENERATION

The aim of the article is to present main results obtained in the core of a pilot study carried out in the course of project training teachers and educators in contemporary schools in the skills and knowledge required for responsible and innovative training of students for applying in their lifestyle ethical principles from the Universal Declaration of Bioethics of UNESCO

IMMUNOTOXICOLOGICAL ASPECTS OF BIOCOMPATIBILITY OF TITANIUM

Titanium (Ti) is a non-essential metal element. TiO2 is used predominantly in the form of micro and nanoparticles in consumer products, including cosmetics and food. Because of its excellent biocompatibility, the trade-pure titan and its alloys are widely used as an alternative to certain metals in invasive medicine, surgery, dental medicine. Contemporary data concerning the sources of exposure to titanium, immune reactions to Ti alloys, current knowledge and perspectives of diagnosis of sensitization or allergic reactions to titanium are discussed. Conclusion: TiO2 is much more stable than pure Ti and alloys used in the implants, that should be taken into account when conducting research and analysing the results. The evidence of possible toxic effects is insufficient. It is difficult to assess the frequency of Ti allergy due to the uncertainty of diagnostic methods, but it is believed that it is very low. This is supported by the evidence that Ti and TiO2 (often as NP) doesn’t penetrate through the healthy skin. Skin patch testing with currently available formulations of Ti and TiO2 has no significant value in clinical practice, and currently, it is assumed that there is no reliable method for diagnosis Ti allergy. The functional analysis of cytokine release and investigation of genetic characteristics could be useful for individual risk assessment in dental implantology. Such studies may also help to investigate separately early and late implant loss, as well as to develop new diagnostic tools

PATIENT REGISTRIES FOR RARE DISEASES

Rare diseases are diseases with a particularly low prevalence. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high added value. The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD), coordinated by the World Health Organization (WHO). Patient registries and databases constitute key instruments for the development of clinical research in the field of rare diseases. Rare disease registries include not only diseases that are inherently rare, but also common diseases that are rare in specific populations, especially those defined by demographics. Disease registries create the possibility of assessing the long-term safety and benefit of different treatments, perhaps leading to treatment algorithms that allow more choices for patients and clinicians

NEW PROPOSAL FOR EUROPEAN UNION REGULATIONS ON MEDICAL DEVICES AND IN VITRO DIAGNOSTIC MEDICAL DEVICES

Appropriate legislation is fundamental to ensuring the highest level of health protection and effective innovation. Until the 1990s, each European Union country had its own approach to device evaluation but governments needed to put in place policies that will address all elements related to medical devices, ranging from access to high quality, affordable products, through to their safe and appropriate use and disposal. In order to ensure that patients, consumers and healthcare professionals can reap the benefits of safe, effective and innovative medical devices, the European Commission has proposed two new Regulations. The first proposal is for Regulation on medical devices and is to replace Directive 90/385/EEC regarding active implantable medical devices and Directive 93/42/EEC regarding medical devices, while the second proposal is for a Regulation on in vitro diagnostic medical devices and is to replace Directive 98/79/EC. The proposed Regulations foresee to amend and clarify the scope of the legislation, to take into account scientific and technological progress