Enrico De Vita, Harpreet Hyare, Gerard Ridgway, Marie-Claire Porter, Andrew Thompson, Chris Carswell, Ana Lukic, Rolf Jager, Diana Caine, Peter Rudge, Tarek Yousry, John Collinge, Simon Mead, and John Thornton Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom, Academic Neuroradiological Unit, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, London, United Kingdom, MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, United Kingdom, National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, United Kingdom, Wellcome Department of Cognitive Neurology, UCL Institute of Neurology, London, United Kingdom
Rare diseases are a heterogenic group of disorders with a little in common except of their rarity affecting by less than 5 : 10.000 people. In the world is registered about 6000-8000 rare diseases with 6-8% suffering population only in the European Union. In spite of rarity, they represent an important medical and social problem due to their incidence. For many rare diseases have no treatment, but if it exists and if started on time as being available to patients, there is a good prognosis for them to be able for normal life. The problems of patients affected by rare diseases are related to the lack of diagnosis and timely undergoing as well as their treatment or prevention. Orphan drugs are products intended for treatment, diagnosis or prevention of rare diseases, but for their development and marketing the industry has not been interested in yet because of their marketing reasons. Patients suffering from a rare disease although belonging to the vulnerable group for their specific health needs, is becoming invisible in the health care system due to their additional needs un properly recognized. Ethical problems faced by patients, but also health care professionals are related to the allocation of medical diagnostics, unequal approach to health care, inappropriately specialized social services as well as therapy and rare orphan drugs unavailability. Ethical questions related to clinical trails on orphan drugs, population screening and epidemiology testing on rare diseases will also be discussed in this paper. [Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects]
Le présent article présente les monuments funéraires en forme de médaillon de la Haute Moésie. Leur forme et leur iconographie sont analysées ainsi que l’origine des donateurs et l’identité des artistes qui les ont créé. L’exemple de ces médaillons souligne les liens existants entre la Haute Moésie, la Norique et Pannonia. Il illustre également les relations avec, d’un côté, les centres artistiques du nord de l’Italie et de l’autre, la province de Dacie.
The ways in which Persephone was depicted in the Roman province of Upper Moesia may help understand the significance the goddess had for the inhabitants of the Upper Moesian limes, notably Viminacium and Ratiaria, where the discussed archaeological material was discovered.
The objectives of this research were to establish the recessive phenotype frequency of the(in)ability of tongue rolling (fr) and frequency of the(in)ability of tongue folding. The data were collected by means of direct analysis and interviews with pupils from 5th to 8th grade. The research was conducted in rural and urban areas of Zivinice Municipality (OS Zivinice and OS Basigovci). The sample comprised 438 persons of both sexes (202 boys and 236 girls) 11-16 years of age. 197 respondents were from urban and 241 from rural area. The analysis of the obtained results showed that the phenotype frequency of the (in)ability of tongue rolling in Zivinice Municipality is 20,30% with relative frequency of recessive allele qr=0,45, while in the Basigovci area the phenotype frequency of the(in)ability of tongue rolling is 41,90%, with relative frequency of recessive allele qr=0,64. The phenotype frequency of the(in)ability of tongue folding in Zivinice is 32,48%, relative frequency of recessive allele qu=0,56, while the incidence of same phenotipe in Basigovci is 44,81%, and relative frequency of recessive allele is qu=0,66. The analysis of the results in Živinice Municipality show that the frequency of recessive allele is not different from the one found in the previous researeches in the regions of B&H and has approximate value of the frequency of reccesive allele from Gradacac qr=0,55.
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