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1. Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Mullaney C, Nelen V, Neville AJ, O’Mahony M, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Rounding C, Sipek A, Stoianova S, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H.: Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet 2014, Part A 9999: 1-8
2. Krajowy Zespół Programu
A. Baráková, P. Hlava, Ch. Safaei Diba and Z. Vallová
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 (http://www.icbdsr.org) but not EUROCAT (http://www.eurocat-network.eu/), 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.
The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic.
Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.
Paulina Kordjalik, Zdzisław Tobota and Maria Respondek-Liberska
congenital heart disease in an unselected national population: a 21-year experience. Heart. 2011; 97: 124-30
21. Khoshnood B1, de Vigan C, Vodovar V, Goujard J, Lhomme A, Bonnet D, Goffinet F: Trends in antenatal diagnosis, pregnancy termination and perinatal mortality in infants with congenital heart disease: evaluation in the general population of Paris 1983-2000. J Gynecol Obstet Biol Reprod (Paris). 2006; 35: 455-64
22. Garne E1; Eurocat Working Group: Prenatal diagnosis of six major cardiac malformations in Europe--a population based
Paulina Kordjalik, Beata Radzymińska-Chruściel, Maciej Słodki, Agata Włoch, Joanna Szymkiewicz-Dangel, Maria Respondek-Liberska and Zdzisław Tobota
Malformations as a source of epidemiology, etiology and plans for medical care. Medical University K. Marcinkowskiego, Poznań 2014
20. Lusawa T, Szymański P, Siudalska H, Hoffman P.: Rejestr dorosłych z wrodzoną wadą serca. Folia Cardiol. 2002, 9(1): 9-11
Nährstoffeinträge der Flussgebiete Deutschlands auf der Grundlage eines harmonisierten Vorgehens. UBA-Texte 82/03: 201.
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Behrendt H., Dannowski R., 2005. Nutrients and heavy metals in the Odra River system. Weißensee Verlag, Berlin: 353.
Behrendt H., Schreiber H., van Gils J., Zessner M., 2005. Point and diffuse nutrient emissions and loads in the transboundary Danube river basin. II
Anna Knafel, Marcin Wiecheć, Agnieszka Nocuń and Antoni Basta
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2. Słodki M., Szymkiewicz-Dangel J., Włoch A., Siwińska A, Radzymińska-Chruściel B., Respondek-Liberska M.: Selected data from The Polish National Registry for Fetal Cardiac Pathology for the year 2012 - quo vadis? PPrenat Cardio. 2013 Mar;3(1):5-9. doi 10.12847/03131
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