scholarly journals The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

2021 ◽  
Author(s):  
Anna Tylki-Szymańska ◽  
Zsuzsanna Almássy ◽  
Violetta Christophidou Anastasiadou ◽  
Daniela Avdjieva-Tzavella ◽  
Ingeborg Barisic ◽  
...  
Keyword(s):  
European Countries ◽  
Eastern European ◽  
Survey Analysis ◽  
Lysosomal Storage ◽  
European Regions ◽  
Enzyme Replacement ◽  
European Guidelines ◽  
Mps Iva ◽  
Eastern European Countries

Abstract Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the landscape of disease management in the region and understand ERT implementation, with particular reference to MPS IVA.Results: 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. Conclusions: The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions on the epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.

scholarly journals Development and validation of two SCORE-based cardiovascular risk prediction models for Eastern Europe: a multicohort study

2020 ◽  
Vol 41 (35) ◽  
pp. 3325-3333 ◽  
Author(s):  
Taavi Tillmann ◽  
Kristi Läll ◽  
Oliver Dukes ◽  
Giovanni Veronesi ◽  
Hynek Pikhart ◽  
...  
Keyword(s):  
Risk Factors ◽  
Prediction Models ◽  
Validation Cohort ◽  
European Countries ◽  
Eastern European ◽  
Risk Prediction Models ◽  
Derivation Cohort ◽  
Score Model ◽  
Eastern European Countries

Abstract Aims Cardiovascular disease (CVD) risk prediction models are used in Western European countries, but less so in Eastern European countries where rates of CVD can be two to four times higher. We recalibrated the SCORE prediction model for three Eastern European countries and evaluated the impact of adding seven behavioural and psychosocial risk factors to the model. Methods and results We developed and validated models using data from the prospective HAPIEE cohort study with 14 598 participants from Russia, Poland, and the Czech Republic (derivation cohort, median follow-up 7.2 years, 338 fatal CVD cases) and Estonian Biobank data with 4632 participants (validation cohort, median follow-up 8.3 years, 91 fatal CVD cases). The first model (recalibrated SCORE) used the same risk factors as in the SCORE model. The second model (HAPIEE SCORE) added education, employment, marital status, depression, body mass index, physical inactivity, and antihypertensive use. Discrimination of the original SCORE model (C-statistic 0.78 in the derivation and 0.83 in the validation cohorts) was improved in recalibrated SCORE (0.82 and 0.85) and HAPIEE SCORE (0.84 and 0.87) models. After dichotomizing risk at the clinically meaningful threshold of 5%, and when comparing the final HAPIEE SCORE model against the original SCORE model, the net reclassification improvement was 0.07 [95% confidence interval (CI) 0.02–0.11] in the derivation cohort and 0.14 (95% CI 0.04–0.25) in the validation cohort. Conclusion Our recalibrated SCORE may be more appropriate than the conventional SCORE for some Eastern European populations. The addition of seven quick, non-invasive, and cheap predictors further improved prediction accuracy.

scholarly journals A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring

2021 ◽  
Vol 14 ◽  
pp. 117954762199940
Author(s):  
Eric Goldman ◽  
Angela Vu ◽  
Kelly Dietz ◽  
Stefani N Thomas
Keyword(s):  
Autosomal Recessive ◽  
Disease Diagnosis ◽  
Lysosomal Storage ◽  
Mucopolysaccharidosis Iva ◽  
Enzyme Replacement ◽  
Mps Iva ◽  
Normal Urine

Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births. Given that the diagnosis of MPS IVA relies heavily on the results of initial urine glycosaminoglycan (GAG) screening, cases that present with falsely normal urine GAG concentrations can delay the diagnosis and follow-up care for patients. This case study follows a patient diagnosed with MPS IVA at 9 months of age based on relation to a consanguineous 3-year-old sibling with MPS IVA and the use of direct enzyme activity analysis. Details regarding skeletal presentation and identification of genetic variants are presented along with data on follow-up urinary GAG monitoring during treatment with enzyme replacement therapy and treatment for a growth hormone disorder.

scholarly journals Different Trends in Excess Mortality in a Central European Country Compared to Main European Regions in the Year of the COVID-19 Pandemic (2020): a Hungarian Analysis

2021 ◽  
Vol 27 ◽  
Author(s):  
Krisztina Bogos ◽  
Zoltan Kiss ◽  
Anna Kerpel Fronius ◽  
Gabriella Temesi ◽  
Jenő Elek ◽  
...  
Keyword(s):  
Excess Mortality ◽  
European Countries ◽  
Mortality Data ◽  
Eastern European ◽  
Reference Period ◽  
European Regions ◽  
Central European ◽  
Eastern European Countries ◽  
Second Wave ◽  
Excess Deaths

Objective: This study examined cumulative excess mortality in European countries in the year of the Covid-19 pandemic and characterized the dynamics of the pandemic in different countries, focusing on Hungary and the Central and Eastern European region.Methods: Age-standardized cumulative excess mortality was calculated based on weekly mortality data from the EUROSTAT database, and was compared between 2020 and the 2016–2019 reference period in European countries.Results: Cumulate weekly excess mortality in Hungary was in the negative range until week 44. By week 52, it reached 9,998 excess deaths, corresponding to 7.73% cumulative excess mortality vs. 2016–2019 (p-value = 0.030 vs. 2016–2019). In Q1, only Spain and Italy reported excess mortality compared to the reference period. Significant increases in excess mortality were detected between weeks 13 and 26 in Spain, United Kingdom, Belgium, Netherland and Sweden. Romania and Portugal showed the largest increases in age-standardized cumulative excess mortality in the Q3. The majority of Central and Eastern European countries experienced an outstandingly high impact of the pandemic in Q4 in terms of excess deaths. Hungary ranked 11th in cumulative excess mortality based on the latest available data of from the EUROSTAT database.Conclusion: Hungary experienced a mortality deficit in the first half of 2020 compared to previous years, which was followed by an increase in mortality during the second wave of the COVID-19 pandemic, reaching 7.7% cumulative excess mortality by the end of 2020. The excess was lower than in neighboring countries with similar dynamics of the pandemic.

Knowledge about basic life support in European students

2014 ◽  
Vol 155 (21) ◽  
pp. 833-837 ◽  
Author(s):  
József Marton ◽  
Attila Pandúr ◽  
Emese Pék ◽  
Krisztina Deutsch ◽  
Bálint Bánfai ◽  
...  
Keyword(s):  
Basic Life Support ◽  
Life Support ◽  
European Countries ◽  
Eastern European ◽  
Knowledge And Skills ◽  
European Students ◽  
Western European ◽  
Eastern European Countries ◽  
European Youth

Introduction: Better knowledge and skills of basic life support can save millions of lives each year in Europe. Aim: The aim of this study was to measure the knowledge about basic life support in European students. Method: From 13 European countries 1527 volunteer participated in the survey. The questionnaire consisted of socio-demographic questions and knowledge regarding basic life support. The maximum possible score was 18. Results: Those participants who had basic life support training earned 11.91 points, while those who had not participated in lifesaving education had 9.6 points (p<0.001). Participants from former socialist Eastern European countries reached 10.13 points, while Western Europeans had average 10.85 points (p<0.001). The best results were detected among the Swedish students, and the worst among the Belgians. Conclusions: Based on the results, there are significant differences in the knowledge about basic life support between students from different European countries. Western European youth, and those who were trained had better performance. Orv. Hetil., 2014, 155(21), 833–837.

Central and Eastern European states in global production linkages: country-level and sector-level analysis

2017 ◽  
pp. 38-60 ◽  
Author(s):  
Ewa Cieślik
Keyword(s):  
Global Value Chains ◽  
Jel Classification ◽  
European Countries ◽  
Value Chains ◽  
Eastern European ◽  
Large Share ◽  
Country Level ◽  
Western European ◽  
Eastern European Countries ◽  
Level Analysis

The paper evaluates Central and Eastern European countries’ (CEEs) location in global vertical specialization (global value chains, GVCs). To locate each country in global value chains (upstream or downstream segment/market) and to compare them with the selected countries, a very selective methodology was adopted. We concluded that (a) CEE countries differ in the levels of their participation in production linkages. Countries that have stronger links with Western European countries, especially with Germany, are more integrated; (b) a large share of the CEE countries’ gross exports passes through Western European GVCs; (c) most exporters in Central and Eastern Europe are positioned in the downstream segments of production rather than in the upstream markets. JEL classification: F14, F15.

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