Luonnossa liikkumisen hyvinvointivaikutukset ja mahdollisuudet koulussa

Tiivistelmä. Kandidaatintutkielma tarkasteli systemaattisen kirjallisuuskatsauksen muodossa kotimaista ja kansainvälistä tutkimuskirjallisuutta luonnossa liikkumisen hyvinvointivaikutuksista ja niiden vaikutuksia lapsen kasvuun. Tämän lisäksi pohdittiin luonnosta vieraantumista ja luontosuhteen muodostumisen merkitystä. Tutkielma lähtee liikkeelle luontosuhteen määrittelemisestä, jonka jälkeen selvitetään luonnossa liikkumisen hyvinvointivaikutuksia. Lopuksi pohditaan, kuinka luontoa voidaan käyttää oppimisympäristönä koulussa ja millaisia mahdollisuuksia luonto oppimisympäristönä tarjoaa. Tavoitteena oli muodostaa kattava kokonaiskuva luonnon hyvinvointivaikutuksista ja mahdollisuuksista tiivistäen aiempia tutkimuksia. Aihe on hyvin ajankohtainen, sillä yhteiskunnan muutosten on havaittu vaikuttavan ihmisten hyvinvointiin. Kansainvälisten terveysmittareiden mukaan teollistuneiden maiden asukkaat voivat huonommin kuin koskaan. Stressiperäiset sairaudet muun muassa uupumus ja mielenterveyshäiriöt, ovat yleistyneet kaikilla ikäryhmillä. Samaan aikaan runsas sisälläolo, fyysinen passiivisuus ja luonnonympäristöjen vähentyminen ovat lisääntyneet. Tutkijat näkivät näiden välillä selkeän syy-seuraussuhteen, jonka pohjalta luonnon hyvinvointivaikutusten tieteellinen tutkimus on kasvanut merkittävästi 2000-luvulla. Myös uusi opetussuunnitelma (2014) painottaa luonnonympäristöjen merkitystä oppimisympäristöinä sekä luonnon kunnioittamiseen ja suojelemiseen kasvattamista. Opetussuunnitelmassa lasten hyvinvoinnin edistäminen nousi myös tärkeäksi teemaksi, jossa luonto nähtiin yhtenä osatekijänä. Terveyttä edistävässä toiminnassa ja sairauksien ennaltaehkäisemisessä luonto nähtiin tulevaisuuden mahdollisuutena. Tulevaisuudessa luontoliikunnan ennustetaan saavan tärkeän roolin ihmisten terveyden edistäjänä ja ylläpitäjänä. Luonnon aikaansaamia fyysisiä hyvinvointivaikutuksia ovat esimerkiksi stressihormonien määrän aleneminen ja motoriikan paraneminen ja psyykkisiä hyvinvointivaikutuksia sosiaalisten taitojen, mielikuvituksen ja luovuuden kehittyminen. Luonnossa liikkuminen tukee lisäksi oppimista, koska luonnossa aivot saavat palautua, ajatukset selkiytyvät ja luovuus vahvistuu. On todettu, että luonnossa myös tarkkaavaisuus, ongelmanratkaisukyky sekä suunnistus- ja havainnointikyky kehittyvät

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2

OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients. MATERIALS AND METHODS: A Finnish family with three PFBC patients and five unaffected subjects was studied. Sanger sequencing was used to exclude mutations in the coding and splice site regions of SLC20A2, PDGFRB, and PDGFB. Whole-exome (WES) and whole-genome sequencing (WGS) were performed to identify the causative mutation. A SNP array was used in segregation analysis. RESULTS: Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes. CONCLUSIONS: Our results support haploinsufficiency of SLC20A2 as a pathogenetic mechanism in PFBC. Analysis of copy number variations (CNVs) is emerging as a crucial step in the molecular genetic diagnostics of PFBC, and it should not be limited to coding regions, as causative variants may reside in the noncoding parts of known disease-associated genes

Cancer gene prioritization by integrative analysis of mRNA expression and DNA copy number data: a comparative review

A variety of genome-wide profiling techniques are available to probe complementary aspects of genome structure and function. Integrative analysis of heterogeneous data sources can reveal higher-level interactions that cannot be detected based on individual observations. A standard integration task in cancer studies is to identify altered genomic regions that induce changes in the expression of the associated genes based on joint analysis of genome-wide gene expression and copy number profiling measurements. In this review, we provide a comparison among various modeling procedures for integrating genome-wide profiling data of gene copy number and transcriptional alterations and highlight common approaches to genomic data integration. A transparent benchmarking procedure is introduced to quantitatively compare the cancer gene prioritization performance of the alternative methods. The benchmarking algorithms and data sets are available at http://intcomp.r-forge.r-project.orgComment: PDF file including supplementary material. 9 pages. Preprin

A new method for estimating carbon dioxide emissions from drained peatland forest soils for the greenhouse gas inventory of Finland

Reporting the greenhouse gas (GHG) emissions from the LULUCF sector in the GHG inventory requires sound methods for estimating both the inputs and outputs of carbon (C) in managed ecosystems. Soil CO2 balance of forests consists of the CO2 released from decomposing soil organic matter (SOM) and the C entering the soil through aboveground and belowground plant litter input. Peatlands drained for forestry release soil C as CO2 because the drainage deepens the oxic peat layer prone to SOM decomposition. IPCC Guidelines provide default CO2 emission factors for different climatic zones and the defaults or locally adapted static emission factors are commonly in use in GHG inventory reporting for drained peatlands. In this paper, we describe a new dynamic method to estimate the CO2 balance of drained peatland forest soils in Finland. Contrary to static emission factors, the annual CO2 release from soil is in our method estimated using empirical regression models driven by time series of tree basal area (BA), derived from the national forest inventories in Finland, time series of air temperature and the drained peatland forest site type. Aboveground and belowground litter input is also estimated using empirical models with newly acquired turnover rates for tree fine roots and BA as a dynamic driver. All major components of litter input from ground vegetation and live, harvested and naturally died trees are included. Our method produces an increasing trend of emissions from 1.4 to 7.9 Mt CO2 for drained peatland forest soils in Finland for the period 1990&ndash;2021, with a statistically significant difference between years 1990 and 2021. Across the period 1990&ndash;2021, annual emissions are on average 3.4 Mt and &minus;0.3 Mt in southern and northern parts of Finland, respectively. When combined with data of the CO2 sink created by trees, it appears that in 2021 drained peatland forest ecosystems were a source of 2.3 Mt CO2 in southern Finland and a sink of 2.5 Mt CO2 in northern Finland. We compare the emissions produced by the new method with those produced by the old GHGI method of Finland and discuss the strengths and vulnerabilities of our method in comparison to static emission factors.</p

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Background Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (LMNA) genes are the two most significant contributors in familial DCM. Previously mutations in the desmoplakin (DSP) gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and more recently with DCM. Methods We describe the cardiac phenotype related to a DSP mutation which was identified in ten unrelated Finnish index patients using next-generation sequencing. Sanger sequencing was used to verify the presence of this DSP variant in the probands' relatives. Medical records were obtained, and clinical evaluation was performed. Results We identified DSP c.6310delA, p.(Thr2104Glnfs*12) variant in 17 individuals of which 11 (65%) fulfilled the DCM diagnostic criteria. This pathogenic variant presented with left ventricular dilatation, dysfunction and major ventricular arrhythmias. Two patients showed late gadolinium enhancement (LGE) and myocardial edema on cardiac magnetic resonance imaging (MRI) that may suggest inflammatory process at myocardium. Conclusions The patients diagnosed with DCM showed an arrhythmogenic phenotype as well as SCD at young age supporting the recently proposed concept of arrhythmogenic cardiomyopathy. This study also demonstrates relatively low penetrance of truncating DSP variant in the probands' family members by the age of 40. Further studies are needed to elucidate the possible relations between myocardial inflammation and pathogenic DSP variants.Peer reviewe

From clear lakes to murky waters - tracing the functional response of high-latitude lake communities to concurrent 'greening' and 'browning'

Climate change and the intensification of land use practices are causing widespread eutrophication of subarctic lakes. The implications of this rapid change for lake ecosystem function remain poorly understood. To assess how freshwater communities respond to such profound changes in their habitat and resource availability, we conducted a space-for-time analysis of food-web structure in 30 lakes situated across a temperature-productivity gradient equivalent to the predicted future climate of subarctic Europe (temperature +3 degrees C, precipitation +30% and nutrient +45 mu g L-1 total phosphorus). Along this gradient, we observed an increase in the assimilation of pelagic-derived carbon from 25 to 75% throughout primary, secondary and tertiary consumers. This shift was overwhelmingly driven by the consumption of pelagic detritus by benthic primary consumers and was not accompanied by increased pelagic foraging by higher trophic level consumers. Our data also revealed a convergence of the carbon isotope ratios of pelagic and benthic food web endmembers in the warmest, most productive lakes indicating that the incorporation of terrestrial derived carbon into aquatic food webs increases as land use intensifies. These results, reflecting changes along a gradient characteristic of the predicted future environment throughout the subarctic, indicate that climate and land use driven eutrophication and browning are radically altering the function and fuelling of aquatic food webs in this biome.Peer reviewe

CAIDE Dementia Risk Score, Alzheimer and cerebrovascular pathology : a population-based autopsy study

Background. CAIDE Dementia Risk Score is a tool for estimating dementia risk in the general population. Its longitudinal associations with Alzheimer or vascular neuropathology in the oldest old are not known. Aim. To explore the relationship between CAIDE Dementia Risk Score at baseline and neuritic plaques, neurofibrillary tangles, cerebral infarcts and cerebral amyloid angiopathy (CAA) after up to 10-year follow-up in the Vantaa 85+ population. Methods. Study population included 149 participants aged 85 years, without dementia at baseline, and with available clinical and autopsy data. Methenamine silver staining was used for beta-amyloid and modified Bielschowsky method for neurofibrillary tangles and neuritic plaques. Macroscopic infarcts were identified from cerebral hemispheres, brain-stem and cerebellum slices. Standardized methods were used to determine microscopic infarcts, CAA and alpha-synuclein pathologies. The CAIDE Dementia Risk Score was calculated based on scores for age, sex, BMI, total cholesterol, systolic blood pressure, physical activity and APOE epsilon 4 carrier status (range 0-18 points). Results. A CAIDE Dementia Risk Score above 11 points was associated with more cerebral infarctions up to 10 years later: OR (95% CI) was 2.10 (1.06-4.16). No associations were found with other neuropathologies. Conclusion. In a population of elderly aged 85 years, higher CAIDE Dementia Risk Score was associated with increased risk of cerebral infarcts.Peer reviewe

Heterozygous junctophilin-2 (JPH2) p. (Thr161Lys) is a monogenic cause for HCM with heart failure

During the last two decades, mutations in sarcomere genes have found to comprise the most common cause for hypertrophic cardiomyopathy (HCM), but still significant number of patients with dominant HCM in the family are left without molecular genetic diagnosis. Next generation sequencing (NGS) does not only enable evaluation of established HCM genes but also candidate genes for cardiomyopathy are frequently tested which may lead to a situation where conclusive interpretation of the variant requires extensive family studies. We aimed to characterize the phenotype related to a variant in the junctophilin-2 (JPH2) gene, which is less known non-sarcomeric candidate gene. In addition, we did extensive review of the literature and databases about JPH2 variation in association with cardiac disease. We characterize nine Finnish index patients with HCM and heterozygous for JPH2 c.482C>A, p. (Thr161Lys) variant were included and segregation studies were performed. We identified 20 individuals affected with HCM with or without systolic heart failure and conduction abnormalities in the nine Finnish families with JPH2 p.(Thr161Lys) variant. We found 26 heterozygotes with the variant and penetrance was 71% by age 60 and 100% by age 80. Cosegregation of the variant with HCM phenotype was observed in six families. Main clinical features were left ventricular hypertrophy, arrhythmia vulnerability and conduction abnormalities including third degree AV-block. In some patients end-stage severe left ventricular heart failure with normal or mildly enlarged diastolic dimensions was detected. In conclusion, we propose that the heterozygous JPH2 p.(Thr161Lys) variant is a new Finnish mutation causing atypical HCM.Peer reviewe