Employment Policy Analysis Targeted to Disabled People with Mental Problems in Olomouc Region

Bakalářská práce se zabývá analýzou zaměstnanosti osob s mentálním postižením v Olomouckém kraji. V dané problematice je zkoumána zaměstnanost, druh pracovního poměru a pracovní náplň osob s mentálním postižením. Práce se také soustředí na překážky a případné změny při jejich zaměstnávání a využití možnosti podpory úřadů práce ze strany zaměstnavatelů. Pomocí dotazníků a rozhovorů, které byly využity pro sběr dat, bylo zjištěno že pracovní místa pro tyto jedince, kteří se chtějí stát aktivními členy na trhu práce, stále chybí. To lze změnit především pomocí dostatečné osvěty ze strany sociálních služeb, agentur podporovaného zaměstnání nebo úřadů práce.The bachelor thesis deals with the analysis of employment of people with mental disabilities in the Olomouc region. Employment rate, the type of employment and the job description of people with intellectual disabilities are examined in my thesis. The work also focuses on the obstacles and possible changes in the target group employment and utilization of the possibility of support of labour offices by employers. Using questionnaires and interviews to collect date, it was found that jobs for these individuals who want to become active members in the labour market were still missing. This can be altered, in particular, by education provided by social services, employment agencies or employment offices.153 - Katedra veřejné ekonomikyvelmi dobř

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia. Searching for the principal genomic changes led us to the selection of sixty-two patients in whom the presence of sequence variants in the ACADS gene was analysed and correlated with the available biochemical and clinical data. Methods Biochemical and molecular genetic tests were performed. Acylcarnitine profiles focused on an elevated level of C4-acylcarnitine, which was analysed via tandem mass spectrometry. Urinary organic acids, specifically a quantity of ethylmalonic acid, were determined by gas chromatography/mass spectrometry. The entire coding region of the ACADS gene was sequenced. A low-cost restriction fragment length polymorphism of PCR amplified fragments analysis (PCR-RFLP) of pathogenic variants was introduced and implemented for the molecular-genetic algorithm appropriate for the Slovak population. Results Our molecular genetic study was performed on sixty-two patients with a pathological biochemical pattern related to short-chain acyl-CoA dehydrogenase deficiency. In this cohort, we discovered a high occurrence of two rare pathogenic variants—the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively. Up to 86% of investigated individuals belong to the Roma ethnic group. Conclusions Analogous to other countries, SCADD is not included in the newborn screening programme. Based on the exceeded levels of the specific biomarker C4-acylcarnitine as well as ethylmalonic acid, we revealed a high prevalence of short-chain acyl-CoA dehydrogenase deficiency cases, confirmed by the findings of two rare pathogenic variants. A deletion c.310_312delGAG and c.1138C > T substitution in the ACADS gene appear with a high frequency in the Roma ethnic group of Slovakia. Due to the uncertainty of the pathogenicity and clinical consequences, it is important to follow up the morbidity and mortality in these patients over time and evaluate SCADD in relation to clinical outcomes and preventive healthcare recommendations