15 research outputs found

    "Ensin arkiset asiat rullaamaan ja sitten nippelinappeli-jutut" : Aivovamman saaneen lapsen toimintaterapia vanhempien kuvaamana

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    Lapsen odottamaton vammautuminen on koko perhettĂ€ koskeva kriisi. Se muuttaa vĂ€istĂ€mĂ€ttĂ€ perheen rutiineja ja tuo usein erilaisia terapiamuotoja osaksi arkea. Lapsen vammautumisen koskettaessa koko perhettĂ€ tulisi terapiassa huomioida pelkĂ€n lapsen sijasta koko perhe. Esimerkiksi perhekeskeisessĂ€ toimintaterapiassa lapsen vanhemmat nĂ€hdÀÀnkin olennaisena osa kuntoutustiimiĂ€, sillĂ€ vanhemmilla on useimmiten kokonaisvaltaisin kuva lapsensa tilanteesta, mikĂ€ on suurena apuna terapian suunnittelussa ja toteutuksessa. Vanhempien merkitys korostuu myös lapsen hyvinvoinnin ja tulevaisuuden tukemisessa sekĂ€ terapiassa harjoiteltujen taitojen yleistymisessĂ€ osaksi arkea. Laadullisen tutkimuksemme tarkoituksena on kuvata, millaista aivovamman saaneiden lasten akuuttivaiheen jĂ€lkeinen toimintaterapia on vanhempien kuvaamana. Tutkimuksen tehtĂ€vinĂ€ oli kuvata, millaisia vaikutuksia aivovammalla on perheen arkeen, miten aivovamman saaneen lapsen toimintaterapia on toteutunut ja miten vanhemmat kokevat lapsen ja perheen hyötyneen toimintaterapiasta. Tiedonantajina oli kahden aivovamman saaneen lapsen vanhemmat. Aineisto kerĂ€ttiin teemahaastattelulla ja haastattelut analysoitiin aineistolĂ€htöisen sisĂ€llönanalyysin mukaan. Tutkimuksen tuloksien mukaan lapsen aivovamma on tuonut perheiden arkeen moninaisia haasteita. Haasteet nĂ€kyvĂ€t esimerkiksi arkisissa toiminnoissa ja sosiaalisessa osallistumisessa. Vanhemmat kokevat pÀÀsseensĂ€ osallistumaan ja vaikuttamaan lapsensa toimintaterapian suunnitteluun sekĂ€ yhteistyö vanhempien ja toimintaterapeutin vĂ€lillĂ€ kuvautuu toimivana. Tutkimustulosten perusteella lapsen toimintaterapiassa on hyödynnetty lapsen eri toimintaympĂ€ristöjĂ€. Lapsen toimintaterapia toteutuu kuitenkin usein erillisessĂ€ tilassa kahden kesken toimintaterapeutin kanssa. Vanhemmat ovat saaneet toimintaterapeutilta runsaasti tukea ja kĂ€ytĂ€nnön vinkkejĂ€ arkeensa. He kokevat toimintaterapian olleen tĂ€rkeĂ€ osa lapsen kuntoutumisessa.A child’s unexpected injury is a crisis that affects the whole family. It changes family’s routines and sometimes brings different therapies into one’s life. In therapies the whole family should be considered, not just the injured child. According to principles of family-centred occupational therapy, parents are a crucial part of the rehabilitation team. They usually have the most holistic picture of a child’s situation, which is a helpful in planning and realising therapy. The importance of parents is also highlighted in generalisation of skills that are learned in therapy. The purpose of our qualitative study is to explain what is occupational therapy of children with acquired brain injury from the parents’ perspective. The main objective of our study is to describe how brain injury affects a family’s everyday life and how the child’s occupational therapy has been realised, as well as describe how the child and the family has benefitted from the occupational therapy. The informants of the study were two families with a child who have acquired a brain injury. The research data were collected via semi-structured interviews. According to this study, a child’s brain injury has brought many different challenges to a family’s everyday life. The challenges were, for example in everyday functioning and in social participation. Parents experience, is that they have been able to participate and influence on a child’s occupational therapy intervention. They described collaboration between the family and the therapist as working well. Parents mentioned that they have had plenty of support and practical tips for everyday life from occupational therapists. Parents’ experience is that occupational therapy has been an important part of the rehabilitation of a child

    Evidence for an Additive Neurorestorative Effect of Simultaneously Administered CDNF and GDNF in Hemiparkinsonian Rats: Implications for Different Mechanism of Action

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    Parkinson's disease (PD) is a neurodegenerative disorder associated with a progressive loss of dopaminergic (DAergic) neurons of the substantia nigra (SN) and the accumulation of intracellular inclusions containing alpha-synuclein. Current therapies do not stop the progression of the disease, and the efficacy of these treatments wanes over time. Neurotrophic factors (NTFs) are naturally occurring proteins promoting the survival and differentiation of neurons and the maintenance of neuronal contacts. CDNF (cerebral dopamine NTF) and GDNF (glial cell line-derived NTF) are able to protect DAergic neurons against toxin-induced degeneration in experimental models of PD. Here, we report an additive neurorestorative effect of coadministration of CDNF and GDNF in the unilateral 6-hydroxydopamine (6-OHDA) lesion model of PD in rats. NTFs were given into the striatum four weeks after unilateral intrastriatal injection of 6-OHDA (20 mu g). Amphetamine-induced (2.5 mg/kg, i.p.) rotational behavior was measured every two weeks. Number of tyrosine hydroxylase (TH)-positive cells from SN pars compacta (SNpc) and density of TH-positive fibers in the striatum were analyzed at 12 weeks after lesion. CDNF and GDNF alone restored the DAergic function, and one specific dose combination had an additive effect: CDNF (2.5 mu g) and GDNF (1 mu g) coadministration led to a stronger trophic effect relative to either of the single treatments alone. The additive effect may indicate different mechanism of action for the NTFs. Indeed, both NTFs activated the survival promoting PI3 kinase (PI3K)-Akt signaling pathway, but only CDNF decreased the expression level of tested endoplasmatic reticulum (ER) stress markers ATF6, glucose-regulated protein 78 (GRP78), and phosphorylation of eukaryotic initiation factor 2 alpha subunit (eIF2 alpha).Peer reviewe

    Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

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    Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe

    Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

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    Sleep apnoea is a risk factor for severe COVID-19

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    Background Obstructive sleep apnoea (OSA) is associated with higher body mass index (BMI), diabetes, older age and male gender, which are all risk factors for severe COVID-19.We aimed to study if OSA is an independent risk factor for COVID-19 infection or for severe COVID-19.Methods OSA diagnosis and COVID-19 infection were extracted from the hospital discharge, causes of death and infectious diseases registries in individuals who participated in the FinnGen study (n=260 405). Severe COVID-19 was defined as COVID-19 requiring hospitalisation. Multivariate logistic regression model was used to examine association. Comorbidities for either COVID-19 or OSA were selected as covariates. We performed a meta-analysis with previous studies.Results We identified 445 individuals with COVID-19, and 38 (8.5%) of them with OSA of whom 19 out of 91 (20.9%) were hospitalised. OSA associated with COVID-19 hospitalisation independent from age, sex, BMI and comorbidities (p-unadjusted=5.13×10−5, OR-adjusted=2.93 (95% CI 1.02 to 8.39), p-adjusted=0.045). OSA was not associated with the risk of contracting COVID-19 (p=0.25). A meta-analysis of OSA and severe COVID-19 showed association across 15 835 COVID-19 positive controls, and n=1294 patients with OSA with severe COVID-19 (OR=2.37 (95% 1.14 to 4.95), p=0.021).Conclusion Risk for contracting COVID-19 was the same for patients with OSA and those without OSA. In contrast, among COVID-19 positive patients, OSA was associated with higher risk for hospitalisation. Our findings are in line with earlier works and suggest OSA as an independent risk factor for severe COVID-19

    Genetic architecture of human plasma lipidome and its link to cardiovascular disease

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    Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

    New insights into the genetic etiology of Alzheimer’s disease and related dementias

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    Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
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