Varhaiskasvatuksen koulutusten kehittämissuositusten toimeenpanosuunnitelma

Vuosina 2019–2020 toiminut Varhaiskasvatuksen koulutusten kehittämisfoorumi selvitti varhaiskasvatuksen koulutusten nykytilaa ja laati varhaiskasvatuksen koulutusten kehittämisohjelman. Kyseiseen kehittämisohjelmaan sisältyneiden koulutuksen kehittämissuositusten jatkotyöstämistä varten perustettiin alkuvuodesta 2021 asiantuntijatyöryhmä, jonka tehtävänä oli laatia näihin suosituksiin pohjautuva toimeenpanosuunnitelma. Asiantuntijaryhmä luovutti tässä julkaisussa esitellyn toimeenpanosuunnitelmaehdotuksensa opetus- ja kulttuuriministeriölle huhtikuussa 2021. Toimeenpanosuunnitelmassa eritellään kehittämissuositusten toteuttamisen tavat, esitetään kunkin toimenpide-ehdotuksen kohdalla sen toteuttamisen vastuutaho/vastuutahot ja tavoiteltava aikataulu. Lisäksi tehdään ehdotus myöhemmin vuonna 2021 asetettavan uuden Varhaiskasvatuksen koulutusten kehittämisfoorumin tavoitteista, tehtävistä, rakenteesta, toiminnasta ja tarvittavista resursseista

Genomförandeplan för rekommendationerna för utveckling av utbildningarna inom småbarnspedagogik

Utvecklingsforumet för utbildningarna inom småbarnspedagogik, som var verksamt 2019–2020, utredde nuläget för utbildningarna inom småbarnspedagogik och utarbetade ett program för utveckling av utbildningarna. I början av 2021 tillsattes det en expertgrupp för att fortsätta arbetet med utvecklingsprogrammets rekommendationer för utveckling av utbildningarna. Gruppens uppgift var att utarbeta en genomförandeplan som grundar sig på dessa rekommendationer. Expertgruppen överlämnade sitt förslag till genomförandeplan till undervisnings- och kulturministeriet i april 2021. Genomförandeplanen presenteras i den här publikationen. I planen redogörs det för sätt att genomföra utvecklingsrekommendationerna och anges också en ansvarig aktör/ansvariga aktörer och en tidsplan för varje föreslagen åtgärd. Dessutom innehåller planen förslag till mål, uppgifter, struktur, verksamhet och behövliga resurser för det nya Utvecklingsforumet för utbildningarna inom småbarnspedagogik som tillsätts 2021

Sleep apnoea is a risk factor for severe COVID-19

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

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

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

FinnGen provides genetic insights from a well-phenotyped isolated population.

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants

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

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 &lt;5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate&lt;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