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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

ABSTRACT: An increased prevalence of familial neurodegenerative parkinsonism or cognitive deterioration was recently found in a small region of southeastern Moravia.The aim of the study was to assess the genetic background of this familial disease.Variants in the ADH1C, EIF4G1, FBXO7, GBA + GBAP1, GIGYF2, HTRA2, LRRK2, MAPT, PRKN, DJ-1, PINK1, PLA2G6, SNCA, UCHL1, VPS35 genes were examined in 12 clinically positive probands of the pedigree in which familial atypical neurodegenerative parkinsonism was identified in previous epidemiological studies. Libraries were sequenced by massive parallel sequencing (MPS) on the Personal Genome Machine (PGM; Ion Torrent). Data were analyzed using Torrent Suite and IonReporter software. All variants were then verified and confirmed by Sanger sequencing.We identified 31 rare heterozygous variants: 11 missense variants, 3 synonymous variants, 8 variants in the UTR region, and 9 intronic variants. Six variants (rs1801334, rs33995883, rs35507033, rs781737269, rs779760087, and rs63750072) were evaluated as pathogenic by at least one in-silico predictor.No single "founder" pathogenic variant associated with parkinsonism has been found in any of the probands from researched pedigree. It may rather be assumed that the familial occurrence of this disease is caused by the combined influence of several "small-effect" genetic variants that accumulate in the population with long-lasting inbreeding behavior.

SUBMITTER: Bartonikova T

PROVIDER: S-EPMC6160209 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Bartoníková Tereza T Menšíková Kateřina K Kolaříková Kristýna K Vodička Radek R Vrtěl Radek R Otruba Pavel P Kaiserová Michaela M Vaštík Miroslav M Mikulicová Lenka L Ovečka Josef J Šáchová Ludmila L Dvorský František F Krša Jiří J Jugas Petr P Godava Marek M Bareš Martin M Janout Vladimír V Hluštík Petr P Procházka Martin M Kaňovský Petr P

Medicine 20180901 38

An increased prevalence of familial neurodegenerative parkinsonism or cognitive deterioration was recently found in a small region of southeastern Moravia.The aim of the study was to assess the genetic background of this familial disease.Variants in the ADH1C, EIF4G1, FBXO7, GBA + GBAP1, GIGYF2, HTRA2, LRRK2, MAPT, PRKN, DJ-1, PINK1, PLA2G6, SNCA, UCHL1, VPS35 genes were examined in 12 clinically positive probands of the pedigree in which familial atypical neurodegenerative parkinsonism was iden ...[more]

PMID: 30235682

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Project description:BackgroundProviding hospital care is an essential objective of national health policies. The countries that share common history, when they emerged from the same health system and similar conditions in the early 1990s, after the division of Czechoslovakia, became the objects of evaluation of the development of technical efficiency of hospital care. The subsequent development of their health care system also was very similar, but no longer entirely identical. The article aims to identify the trends and disparities in the productivity of the capacities of hospital care on the regional level (NUTS III.) in the Czech Republic and the Slovak Republic in 2009-2018 before the COVID-19 pandemic using the multi-criteria decision methods.MethodsThe window analysis as a dynamic DEA method based on moving averages and also the Malmquist Index, that allows the evaluation of changes in relative efficiency and of changes in the production possibilities frontier have become the key methods for evaluating the over time efficiency evolution. To model technical efficiency, an output-oriented method assuming constant returns to scale was chosen. Aggregated input and output parameters for each region were the object of study.ResultsThe results showed that differences in the efficiency trends in terms of the examined parameters among the individual regions are slightly greater in the Czech Republic than in the Slovak Republic. The least efficient regions are those where capital cities are located. Furthermore, the analysis showed that in 2018 all of the Slovak Republic regions improved its productivity compared to 2009 and that technological conditions had a significant impact on this improvement. The results of the Czech Republic regions show productivity improvement in 57% of the regions that, on the contrary, was due to changes in technical efficiency.ConclusionsIt should be recommended to the state- and regional-level governments to refrain from unilaterally preferring the orientation of public policies on the efficiency of the provision of hospital care, and rather focus on increasing the quality and availability of hospital care, especially in smaller, rural, and border regions, in the interest of population safety during pandemics and other emergencies.

Dataset Information

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Publications

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

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