Na reprezentativnem vzorcu 243 uporabnikov storitev zaposlitvene rehabilitacije iz celotne Slovenije smo z anketnim vprašalnikom preučevali pomembnost invalidnosti pri načrtovanju in razvoju kariere ...invalidov. Analizirali smo povezave med invalidnostjo in demografskimi značilnostmi, poklicnimi izbirami in ovirami za zaposlovanje. Večina udeležencev je izrazila željo po zaposlitvi v poklicih za preprosta dela, čeprav je največ sodelujočih pridobilo IV. ali V. stopnjo izobrazbe. Pri izbiri poklica so jih večinoma vodili lasten interes in tudi zdravstvene težave, a je veliko udeležencev raziskave v obdobju brezposelnosti poklicno izbiro večkrat spremenilo, za kar so se kot najpomembnejši razlog izkazale zdravstvene težave in odnos delodajalcev do invalidnosti. Invalidnost je bila prepoznana kot glavna oziroma najpogostejša ovira pri izbiri poklicnih ciljev, iskanju zaposlitve in razvoju kariere. Z raziskavo smo pritrdili dosedanjim ugotovitvam in teoretičnim predpostavkam, da je invalidnost osrednjega pomena pri načrtovanju kariere invalidov, in poudarili pomen ustreznega načrtovanja kariere za uspešno reševanje zaposlitvene problematike.
Due to low employment rates associated to chronic conditions in Europe, it is essential to foster effective integration and re-integration into work strategies. The objective of this systematic ...review is to summarize the evidence on the effectiveness of strategies for integration and re-integration to work for persons with chronic diseases or with musculoskeletal disorders, implemented in Europe in the past five years. A systematic search was conducted in MedLine, PsycINFO, CDR-HTA, CDR-DARE and Cochrane Systematic Reviews. Overall, 32 relevant publications were identified. Of these, 21 were considered eligible after a methodological assessment and included. Positive changes in employment status, return to work and sick leave outcomes were achieved with graded sickness-absence certificates, part-time sick leave, early ergonomic interventions for back pain, disability evaluation followed by information and advice, and with multidisciplinary, coordinated and tailored return to work interventions. Additionally, a positive association between the co-existence of active labour market policies to promote employment and passive support measures (e.g., pensions or benefits) and the probability of finding a job was observed. Research on the evaluation of the effectiveness of strategies targeting integration and re-integration into work for persons with chronic health conditions needs, however, to be improved and strengthened.
The increasing prevalence of chronic diseases among the European working age population, as well as the implications for the individual and societal level, underline the need for policy guidelines ...targeting the effective inclusion of persons with chronic diseases in the workplace. The aim of the present paper was to explore the perspectives of European and National-level stakeholders on existing strategies for work re-integration of persons with chronic diseases, and to provide policy guidelines. A highly-structured interview protocol was distributed to 58 National level stakeholders (policy makers, professionals and employers) from seven European countries. Additionally, 20 European organizations concerned with health-related issues and employment completed an online survey. The findings reveal that employment-related challenges remain largely unaddressed. Both national and European stakeholders considered the existing legislative frameworks inadequate and appraised the co-ordination for the implementation of employment re-integration policies as ineffective. Policies targeting at work re-integration of persons with chronic diseases at European and national level should focus on consistent cooperation among all key stakeholders, awareness raising to staff and management, dissemination of effective strategies, developing research and evaluation standards and establishing monitoring systems on inclusive labour markets.
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early ...initiation of treatment.
We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry.
First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200–400 μmol/L and >30 μmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levels; on the other hand, tyrosine was elevated only at one.
We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine.
•Non-coding region variants of FAH gene can result in a symptomatic HT1.•Retrograde screening for HT1 is technically possible even three years after birth.•DBS are convenient for monitoring HT1 patients and are family-friendly.•Regular monitoring in HT1 patients can result in a favorable cognitive outcome.
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