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References [1] Aymé S. and Rodwell Ch. The European Union Committee of Experts on Rare Diseases: Three Productive Years at the Service of the Rare Disease Community. Orphanet Journal of Rare Diseases 2014 9:30 [2] Gliklich RE, Dreyer NA, et al. Registries for Evaluating Patient Outcomes: A User’s Guide. 2nd ed. (AHRQ, September 2010)). [3] Registries under NCHI. [online] Bratislava, National Centre of Health Information [last access verified 20/2/2013]. Accessible at: http

MASA МАНУ CONTRIBUTIONS. Sec. of Med. Sci., XXXVIII 1, 2017 ПРИЛОЗИ. Одд. за мед. науки, XXXVIII 1, 2017 ISSN 1857-9345 UDC: 616-039.42(497.7)(062)(049.3) AbstrAct The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene

Effective management of any group of diseases in the population, including rare diseases, needs to know the basic epidemiological parameters. The issue of rare diseases in the concept of state health policy has absented in many countries due to the difficulty of diagnosis, treatment and subsequent care of such patients. There is no conception of collection and processing of data regarding rare diseases, neither is there any unified conception of diagnosis, treatment, and overall health care of patients with rare diseases. The central availability of data concerning rare diseases is very low for different medical specialisations which deal with this issue. There exist only partial pieces of information, which are spread across different workplaces. The SR should participate in European information network on rare diseases. The SR is a member of ICBDSR ( but not EUROCAT (, which is necessary to be changed!

The National Health Information Centre (NHIC) is a source of rare diseases in the following databases: National register of congenital anomalies, National cancer registry, Registry of patients with diabetes mellitus 1, National register of congenital anomaly of heart. The key to the knowledge of the real state of disease incidence rate in the population is an effective collaboration between relevant partners (including implementation of systematic control mechanisms), which is a basis for success.

References 1. Tasic V, Lozanovski VJ, Danilovski D, Laban N, Pop-Jordanova N, Polenakovic M, Gucev ZS. Rare diseases with renal involvement in the Republic of Macedonia. Prilozi. 2011; 32: 55-67. 2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009; 106: 19096-101. 3. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, et al. SRNS Study Group, Hildebrandt F. A single-gene cause in 29.5% of cases of steroid

References Official gazette of the Ministry of Health in the SR 2012/part 32. National Strategy for Rare Disease Patient Health Care Development for years 2012 - 2013. ( Accessed February 20 2013. Cisarik F. Rare diseases - challange for european healt care and situation in the SR In: , 2011, 1 (31.12.) [e-learningový portál]. Bratislava: Slovenská lekárska komora. ISSN: 1338-4392. ( Accessed February 20 2013.

References 1. Gliklich RE, Dreyer NA, Leavy MB. Rare Disease Registries [Internet]. Agency for Healthcare Research and Quality (US); 2014 [cited 2018 Mar 26]. Available from: 2. Michael A. Nead, David G. Morris. Interstitial and Inflammatory Lung Diseases. In: Fishman's Pumonary Disease and Disorders Authors Alfred P Fishman, Jack A Elias, Robert M Senior, Jay A Fishman, Allan I Pack, Michael A Grippi. 2008. p. 11057, 1112. 3. Raghu G, Nyberg F, Morgan G. The epidemiology of interstitial lung disease and its

Rare disease day, conference 29.2.2012 - Poster Session

Rare disease day, conference 29.2.2012 - Presentations

References EURORDIS. The voice of 12,000 patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe : a report based on the EurordisCare3 surveys [online]. Eurordis, 2009 ISBN 29-530-3181-2. ( Accessed April 20 2013. EURORDIS. EUROPLAN - Guidance for National Plans and Conferences: EUROPLAN National Conference Final Reports [online]. EURORDIS, 2010, 21/09/2012. ( Accessed

MASA МАНУ CONTRIBUTIONS. Sec. of Med. Sci., XXXVIII 3, 2017 ПРИЛОЗИ. Одд. за мед. науки, XXXVIII 3, 2017 ISSN 1857-9345 UDC: 616-039.42(497.711)(062)(049.3) ABSTRACT The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth