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- Prudencio, Mercedes, et al.
(författare)
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Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
- 2020
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6242 .- 1946-6234. ; 12:566
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Tidskriftsartikel (refereegranskat)abstract
- Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating putative treatments for this rare disease to the clinic is the lack of pharmacodynamic markers for use in clinical trials. Here, we developed an immunoassay that readily detects polyQ ATXN3 proteins in human biological fluids and discriminates patients with SCA3 from healthy controls and individuals with other ataxias. We show that polyQ ATXN3 serves as a marker of target engagement in human fibroblasts, which may bode well for its use in clinical trials. Last, we identified a single-nucleotide polymorphism that strongly associates with the expanded allele, thus providing an exciting drug target to abrogate detrimental events initiated by mutant ATXN3. Gene-silencing strategies for several repeat diseases are well under way, and our results are expected to improve clinical trial preparedness for SCA3 therapies.
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- Reho, T, et al.
(författare)
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Occupational health patients' parallel use of primary- and secondary-care services and linkage to work disability: A follow-up study in Finland
- 2024
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Ingår i: Scandinavian journal of public health. - : SAGE Publications. - 1651-1905 .- 1403-4948. ; 52:2, s. 128-135
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to investigate occupational health (OH) primary-care patients’ use of other health-care services and whether parallel use affects their likelihood to have sickness absences (SA) or disability pensions (DP). Methods: Primary-care services in Finland are provided through three parallel health-care sectors, all available to the working population: public, private and OH sectors. Patients may also be referred to secondary care. This follow-up study combines real-world medical record data containing SA data from a nationwide OH provider with health-care attendance data from public and private primary-care sectors and public secondary care, sociodemographic data and DP decisions. Patients between 18 and 68 years of age who used OH primary care at least once during the study years 2014–2016 were included. The total study population comprised 59,650 patients. Odds ratios were used to analyse association between parallel service use and SA or DP. Results: Females and patients with a lower educational level were more likely to use services in other health-care sectors in addition to OH than others. Those patients who used any other health-care sector in addition to OH primary care had an increased likelihood of having long SA or receiving DP. Conclusions: OH primary-care patients using the services of several health-care sectors in parallel have an increased likelihood of receiving disability benefits – either SA or DP. There is need for care coordination to ensure adequate measures for work-ability support.
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- Reho, TTM, et al.
(författare)
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Parallel use of primary and secondary healthcare by frequent attenders in occupational health and their work disability: a longitudinal study in Finland
- 2022
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 12:4, s. e052740-
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Tidskriftsartikel (refereegranskat)abstract
- To investigate occupational health frequent attenders’ (FAs) use of other healthcare sector services and whether parallel use affects their likelihood to receive a disability pension.DesignLongitudinal study combining routine medical record data with register data.SettingPrimary care in Finland is provided through three parallel healthcare sectors, all available to the working population. Additionally, patients can be referred to secondary care. This study combines medical record data from a nationwide occupational healthcare provider, with healthcare attendance data from private care and from public primary and secondary care attendance, sociodemographic data and disability pension decisions.ParticipantsPatients between 18 and 68 years of age who used occupational health primary care at least once during the study years 2014–2016 were included. The total study population was 59 650 patients. They were divided into three groups (occasional and persistent FAs and non-FAs) for analysis.Primary and secondary outcome measuresThe primary outcome was FAs parallel use of private care and public primary and secondary care. The secondary outcome was work disability pension granted to FAs who used several healthcare sectors.ResultsBoth FA groups were more likely to use other healthcare service sectors more than non-FAs did. Persistent FAs were likely to use public secondary care services in particular (OR 4.31 95% CI 3.46 to 5.36). FAs using all healthcare sectors were also more likely to receive a disability pension than those FAs using only occupational health services (OR 4.53 (95% CI 1.54 to 13.34). This association was strengthened by attendance in public secondary care.ConclusionsFAs using several healthcare sectors in parallel have an increased likelihood to receive a disability pension. There is need for care coordination to ensure adequate measures for work ability support.
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