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Distal myopathies are a group of rare progressive genetic muscle disorders that are extremely varied both genetically and clinically. Typical symptoms include weakness and atrophy limited to the skeletal muscles of distal extremities in hands and legs. The age of onset ranges from early childhood to late adulthood depending on the disease. Currently around 30 genes have been associated with distal myopathies, most of them causing a dominant disease. The objective of the thesis was to identify the disease-causing variant in a family affected by autosomal dominant distal myopathy with early adulthood onset. Affected family members expressed weakness and atrophy in muscles of both hands and legs. To narrow down the chromosomal location of the disease-causing variant, linkage analysis was conducted with genome-wide single nucleotide polymorphism data of family members. Because of the progressive nature of the disease and uncertain disease status of one family member, linkage analysis had to be repeated a few different times with different settings. Both disease statuses and pedigree size were altered to account for the possibility of presymptomatic carriers or incomplete penetrance. Analyses with different parameters led to discovery of multiple possible co-segregating regions. Rare co-segregating small-scale and structural variants as well as repeat expansions in these regions were examined from next-generation sequencing data with multiple bioinformatic detection tools. The segregation of possible candidate variants was validated with Sanger sequencing and PCR. Ultimately, no likely rare co-segregating variant of any type of genetic variation with a likelihood to cause a disease such as distal myopathy was identified by any detection method used. Lack of potential disease-causing variant could be due to incomplete penetrance of the variant or if it was in non-coding regions, such as a deep intronic splicing variant in a gene currently not known to be connected to muscles.

Tässä tutkimuksessa selvitettiin, millaisia kehyksiä ilmastoahdistus saa kahdeksassa, vuonna 2021 julkaistussa suomalaisessa podcast-jaksossa. Näin pyritään lisäämään ymmärrystä ilmastoahdistuksen ilmiöstä, sekä siitä, millaisia kehystyksiä aihe mediassa saa. Tutkimus on tehty laadullisella kehysanalyysilla, joka perustuu Erwin Goffmanin (1974) kehittämään kehysteoriaan ja sen myöhempiin sovellutuksiin. Lyhyesti sanottuna, tutkimus pohjaa siihen olettamukseen, jossa median tavat kehystää ja esittää jokin aihe tai asia ohjaavat sitä, millä tavalla asiat meille esitetään ja millaisina me asiat näemme. Tutkimuksen aineisto kerättiin suoratoistopalvelu Spotifysta, Yle Areenasta ja Suplasta. Kehyksien muodostamisessa hyödynnettiin Robert Entmanin (1993) median kehysanalyysin periaatetta, jossa kehyksillä on neljä tarkoitusta: Ongelmien määritteleminen, ongelman aiheuttavien tekijöiden tunnistaminen, moraalisten arvioiden tekeminen sekä ratkaisujen ehdottaminen. Tutkimuksen tuloksena syntyi kolme kehystä, jotka nimettiin luonnollisen ilmastoahdistuksen, ilmastoahdistus sukupolvikysymyksenä sekä ilmastoahdistus tarvitsee vertaistukea, käsittelyä ja toimintaa kehyksiksi. Jokainen kehys kuvaa omalla tavallaan sitä, millaisena ilmastoahdistus nähdään viime aikaisissa podcast-keskusteluissa. Luonnollisen ilmastoahdistuksen kehyksessä korostuvat näkemykset siitä, kuinka ilmastoahdistus voidaan nähdä luonnollisena ja normaalina, sekä hyvänä reaktiona motivoivan vaikutuksensa kautta. Kaiken kaikkiaan kehys kuvaa ilmasto- ja ympäristöahdistuksen ilmiön monitahoisuutta ja yksilöllisyyttä, sekä pyrkii vahvistamaan näkemyksiä siitä, mitä ilmastoahdistus on ja mitä se ei ole. Lisäksi ilmastoahdistuksen sisältämä ahdistus sana kyseenalaistetaan. Ilmastoahdistus sukupolvikysymyksenä - kehys avaa puolestaan näkemyksiä nuorten ilmastoahdistuksen syihin ja korostumiseen, sekä ottaa kantaa aikaisempaan ilmastoahdistuskeskusteluun, joka joidenkin keskustelijoiden mielestä näyttäytyi ilmiötä vähättelevänä. Kokonaisuudessaan kehyksessä kuitenkin korostuu näkemys siitä, että ilmastoahdistus ei ole vain nuoria koskettava asia, vaikka se tällä hetkellä korostuu ja ilmenee eniten nuoremmissa sukupolvissa. Kehys ilmastoahdistus tarvitsee vertaistukea, käsittelyä ja toimintaa, tuo esiin keskustelijoiden näkemyksiä ja kokemuksia liittyen ilmastoahdistuksen käsittelyyn ja lievittämiseen, sekä osallistuu keskusteluun koskien ilmastotekojen merkityksellisyyttä. Tutkimuksen tulosten perusteella voidaan sanoa, että ilmastoahdistus saa vuonna 2021 julkaistuissa, suomalaisissa podcastkeskusteluissa monia eri sävyjä ja ilmastoahdistusta käsitellään niissä laajasti. Ja vaikka keskustelijoiden näkemykset ovat pitkälti linjassa ilmastoahdistusta käsittelevien julkaisujen kanssa, muutamia kiinnostavia ja tutkimattomiakin näkökulmia ja kehystyksiä ilmenee. Osaltaan tutkimuksen tulokset täydentävät kuvaa siitä, miten valtavirtamediaa hitaammat lajityypit – kuten podcastit – mukautuvat muualla esitettyihin määritelmiin ja kehystyksiin, mutta myös täydentävät niitä. Tällöin podcast-keskustelujen voidaan nähdä tarjoavan vaihtoehtoisia kehyksiä, jotka osittain haastavat ja täydentävät julkisuudessa hallitsevia kehyksiä.

The impacts of climate change are going to be significant in Finland, thus the need to adapt is inevitable. Municipalities are the key to adaptation because the impacts of climate change are met locally. Several cities have developed their measures to climate impacts. However, multiple barriers may hinder the planning and implementation of adaptation measures in the cities. The purpose of this research is to identify and overcome the barriers in urban climate change adaptation in the City of Helsinki. The main data of this research was collected in a workshop and it consists of the blank form replies collected with 6-3-5 method and focus group discussions. 11 civil servants from the City of Helsinki who deal with adaptation issues in their daily work participated in the workshop. The participants identified the barriers and evaluated the most important ones in the workshop: lack of cost-benefit analyses, rivalry of the resources with other interests, lack of urgency regarding adaptation, lack of information, fragmentation of the organization and unclear roles and responsibilities. Identifying the barriers does not solely promote the resilience of the cities but it is an important step in the development of adaptation work. It is essential to seek possible solutions to overcome the identified barriers. Six solutions that can tackle simultaneously several barriers emerged from the data gathered in the workshop: costbenefit analyses, increasing training and information, concrete examples, increasing co-operation, clear modes of action and responsibilities and the support and commitment of the management. With these solutions, the City of Helsinki has the possibility to simultaneously overcome several barriers that were identified in this research. To conclude, the responsibility of climate change adaptation should be clarified in the new city organization and silos between different sectors should be addressed, if possible. It would be useful to utilise the multi-criteria decision analysis in prioritising and argumenting of the adaptation measures in the city. As additional conclusions, it seems that improved co-operation with the universities and research institutions, and legislation indicating clear roles and responsibilities in terms of adaptation might benefit the adaptation work in the City of Helsinki. As for the need for further research, the analytical framework developed and utilized in this research needs to be tested in other case studies also.

Tämä pro gradu -tutkielma tarkastelee vuosina 2021-2022 Suomessa esitettyjä ilmastoyksiköiden käyttöön liittyviä mainos- ja markkinointiväittämiä ja niiden laatua. Tällaisia väittämiä ovat esimerkiksi yleisesti käytetyt hiilineutraalius- ja kompensaatioväittämät. Työ esittää katsauksen siihen, kuinka tarkkaa ja asianmukaista tietoa vuosina 2021-2022 mainos- ja markkinointiväittämät ovat esittäneet. Työssä väittämiä tarkastellaan tulevien EU-sääntelyn edellytysten sekä helmikuussa 2023 julkaistujen kansallisten suositusten valossa (Laine ym., 2023). Sääntelyn ja kansallisen toimintakentän muutoksien kautta työ tutkii väittämien mahdollista tulevaisuutta ja muutoksia väittämien tulevassa käytössä. Merkittävin yksittäinen ilmastoyksiköihin perustuvien väittämien tulevaisuuden käyttöön vaikuttava tekijä on väittämien tekemiseen käytettyjen ilmastoyksiköiden kaksoislaskennan välttäminen. Kapea-alaisen pilottitutkimuksen avulla työssä testataan kaksoislaskennan riskin arviointiin esitettyä menetelmää (Laininen ym., 2022) sekä arvioidaan väittämiin liittyvää riskiä. Työssä hyödynnetään kahta erillistä aineistoa, joiden avulla tutkitaan mainonnassa ja markkinoinnissa esitettyjen väittämien eroja. Väittämien laatua tutkitaan analysoimalla niiden syvyyttä eli sitä, kuinka tarkkaa tietoa väittämä tarjoaa sekä asianmukaisuutta eli sitä, onko väittämässä annettu tieto selkeää ja yksiselitteistä vai mahdollisesti harhaanjohtavaa. Työssä toteutetun analyysin perusteella suurin osa vuosina 2021-2022 mainonnassa ja markkinoinnissa esitetyistä ilmastoyksiköihin perustuvista väittämistä oli harhaanjohtavia. Mainonnassa ja markkinoinnissa esitettyjen väittämien välillä esiintyi kuitenkin merkittäviä eroja. Analyysin perusteella mainonnassa esitetyt väittämät olivat markkinointiväittämiä heikompilaatuisia sekä syvyydeltään että asianmukaisuudeltaan. Arvioinnin perusteella väittämiin liittyvät nykyiset markkinointikäytännöt eivät yleisesti vastaa niille esitettyjä kansallisia suosituksia eivätkä tulevia EU-sääntelyn edellytyksiä. Väittämien tarkkuuteen ja yksityiskohtaisuuteen liittyvien markkinointikäytäntöjen lisäksi tulee tulevaisuudessa ottaa huomioon väittämiin liittyvä kaksoislaskennan riski, joka pilottitutkimuksen perusteella koskee oletettavasti merkittävää osaa nykyisistä markkinoilla esitetyistä väittämistä.

Tumors contain variable number of different immune cells that infiltrate the tumor microenvironment, such as tumor infiltrating lymphocytes (TILs). More research is needed to understand the functional and clinical importance of various TIL subgroups in cancer. Understanding the differences between individual cancer patients will help development of new treatment methods and discovering why only some patients respond to immunological treatments. Renal cell carcinoma (RCC) is the most common kidney cancer type with good overall survival prognosis when the tumor is surgically removed before it has metastasized. However, the prognosis of RCC is significantly decreased when the cancer has spread. The aim of this master’s thesis project was to characterize the tumor infiltrating lymphocyte populations in patient derived RCC samples. Characterization was done with flow cytometry and a custom antibody panel designed to detect various lymphocyte subpopulations. We also wanted to further study the TILs by expanding the lymphocytes from the tumor samples and test their function in an impendence-based assay against matched autologous tumor cells. Based on the flow cytometry results, the different RCC subtypes in the cohort showed some variation in TILs. Still, more research is needed to investigate these differences. We were able to culture the TILs from the RCC tumor samples, and most of them were CD4+ T cells expressing memory markers CD45RO and CCR7. Some expanded TILs expressed markers related to T cell activity and terminal differentiation. In conclusion, this thesis provided material and insights for future RCC TIL experiments as well as considerations for optimization needed in further studies.

The vagus nerve is the longest nerve of the autonomic nervous system. It innervates, among other organs, the stomach, the lungs and the heart, and it reaches several areas of the brain, including the locus coeruleus and the amygdala. The invasive stimulation of this nerve (vagus nerve stimulation, or VNS) is a currently used method for the treatment of refractory epilepsy and pharmaco-resistant depression (Englot et al. 2011; O’Reardon et al., 2006), but the impact that this technique might have on the brain physiology and functions is still under investigation. Various studies (Frangos et al., 2015; Yakunina et al., 2016; Hansen, 2019) have shown that VNS increases noradrenaline production in the brain, a neurotransmitter that is involved in several cognitive processes, such as sleep and mood control. Furthermore, in a study on patients with epilepsy, by Sun et al. in 2017, VNS appeared to have a clear effect on working memory and emotion-attention interaction. Nevertheless, VNS presents all the risks and potential complications that characterize invasive procedures requiring surgery. Therefore, research is now focusing on safer, non-invasive alternatives, such as transcutaneous vagus nerve stimulation (tVNS). This technique allows to stimulate the nerve through its sensory fibres, located in the cymba and tragus of the ear. The scope of the present study was to see whether tVNS would have the same effects on cognitive and affective functions as VNS. The sample for this single blind placebo-controlled study was composed of 30 healthy subjects between 18 and 45 years old. Exclusion criteria included a history of psychiatric, neurological or cardiovascular diseases. All subjects were asked to complete a computer-based task, the Executive Reaction Times-Test. Throughout the test the subjects alternately received an active or a placebo stimulation, and their brain activity was recorded for the whole duration of the test using a 64-channel EEG cap. The Executive-Reaction Times-Test was chosen for this study because it allows to test multiple executive functions simultaneously. The subjects were presented with a series of stimuli on a screen and were asked to react as fast and accurately as possible to “Go” signals, and to refrain from responding when “NoGo” signals appeared. The test started with a triangle pointing either up- or downwards, followed by a brief pause and a traffic light image. The traffic light showed either a red or a green light and included an emotional distractor in the form of a spider or a flower. The red and green lights were alternately used as “Go” or “NoGo” signals, and the rule changed at each test block. In order to complete the task, subjects needed to keep the image of the triangle in their working memory, stay focused on the stimuli and be ready to react or be able to inhibit any responses, thus several main executive functions are being tested: inhibitory control, working memory, attention and emotion-attention interaction. Active stimulation was delivered through clip electrodes that were attached to the tragus of the left ear, whereas placebo stimulation was delivered through clip electrodes that were attached to the left ear lobe. The subjects were not aware of the difference between the two locations. Only the data of 18 subjects was used for the results analysis, because of technical difficulties with the EEG data (some recordings were too noisy, some presented flat channels). The behavioural data was divided into reaction times and errors, which were separately analysed. The EEG data was used to extract the amplitudes of the ERP peaks N2 and P3. The former is a negative peak visible at 200-350ms; the latter is a positive peak visible at 300-500ms. Previous studies have shown the peaks to be associated with response conflict and inhibition (Falkenstein et al., 1999; Donkers et al., 2004; Smith et al., 2013). The behavioural data analysis did not show any significant effect of stimulation on reaction times or error amounts. The ERP analysis, instead, returned interesting results. We observed a main effect of stimulation (p=0.04) in “NoGo” conditions. There was a significant reduction in the N2P3 amplitude and the N2 amplitude in “NoGo” conditions, with active stimulation compared to placebo. These results seem to suggest that with tVNS, fewer cognitive resources are allocated to resolve the inhibitory task, without worsening the subjects’ performance. The lack of significance in the behavioural results might have been due to a ceiling effect, with the Executive Reaction Times-test being too easy for our sample. Overall, the number of errors was too low to conduct a reliable statistical analysis. Nevertheless, the effects we observed on brain physiology would suggest that further research is needed to explore the actual impact of tVNS on cognitive and affective functions.

The intensification of agriculture is one of the main drivers of biodiversity loss worldwide. One of the intensification shifts has occurred from cattle grazing on biodiversity-rich semi-natural grasslands to ceased grazing or grazing on cultivated species-poor grasslands. While the effect of different grazing pressure on biodiversity in semi-natural grasslands has been studied extensively, little is known of how current grazing regimes on cultivated grasslands affect biodiversity and ecosystem services in different farming systems. Here, we investigated how arthropod abundance and potential ecosystem services are related to varying grazing pressure on cultivated grasslands at conventional and organic farms with meat or dairy production. We sampled aerial arthropods with sticky tape traps in four land-use types within the farms. Relative arthropod abundance was derived from the tapes using an imagery analysis, and the numbers of pollinators and predators from 4 taxonomic groups were counted. The results showed no difference in the relative arthropod abundance in relation to grazing pressure, but there was weak evidence for higher predator abundance at low and high grazing pressure. The relative arthropod abundance showed a positive trend in organic farms. However, pollinator abundance was higher in conventional farms, and predator abundance did not differ between farming systems. Land-use type was related to the occurrence of predators and pollinators: both groups had the lowest abundance in farmyards compared to cultivated pastures, silage fields, and cereal crop fields. Predator numbers were also higher in silage fields than in the other land-use types. However, there was no significant interaction between land-use types and farming systems in their effect on the arthropod groups. The results suggest that grazing pressure on cultivated grasslands has a minor or negligible impact on arthropod abundance in the two commonest farming systems. However, the effect of farming systems on relative arthropod abundance might be obscured by low sample sizes, high abundance of only a few species, and other variables not included here, such as the use of manure or pesticides. In addition, pollinators included only two taxonomic groups, potentially leading to results not applicable to all pollinators. Consequently, more large-scale studies with higher sample sizes and the inclusion of arthropod diversity and data on the key on-farm practices and landscape structure are needed to disentangle the relationship between biodiversity and grazing on cultivated grasslands in Finland.

Ongoing climate warming has unprecedented impacts on glacial melt and associated fjord systems in Greenland. As the glaciers are shrinking, freshwater inflow to the sea is increasing resulting in increased nutrient supply by upwelling. In this study I examined environmental factors impacting marine primary productivity, biomass (chlorophyll a), phytoplankton abundance and species composition along a transect from the glacier front to the outer fjord in Godthåbsfjord, SW-Greenland, in August 2019. Gradients in nitrogen and phosphate concentrations were explained by glacial runoff and coastal water inflow while silicate concentration did not follow these patterns. The main variables explaining phytoplankton biomass distribution were nitrogen together with phosphate concentrations, salinity, and depth. Silicate limited waters were strongly dominated (≥ 90%) by the diatom Chaetoceros socialis, which had a strong influence on phytoplankton community response to environmental conditions. High dominance of C. socialis was also related to high species richness. Nitrogen depleted waters were usually related to relatively high abundances (9–46%) of mixotrophic Dinobryon balticum. Higher number of species and higher dominance of C. socialis was detected closer to the glacier. Phytoplankton abundance and biomass (chlorophyll a) were higher in the inner fjord region, whereas primary productivity had the opposite pattern (higher productivity in the outer fjord). This suggested that an autumn bloom was peaking in the inner fjord, whereas in the outer fjord the autumn bloom was still developing. Thus, glacial surface runoff and subglacial discharge contributed to higher phytoplankton abundance and chlorophyll a concentrations, whereas primary production was also dependent on other factors such as light availability and vertical mixing. Melting of Greenland Ice sheet is predicted to accelerate in the future. Thus, the upwelling effect might increase, leading to transitory increase in marine primary production. Increased surface runoff might increase silicate concentrations benefiting diatom species, although turbid runoff water will also decrease the primary productivity due to light limitation. Nevertheless, if marine-terminating glaciers retreat further and become land-terminating glaciers, lack of nutrient upwelling will lead to faster exhaustion of nitrogen in the upper water column and primary productivity will eventually decrease. Thus, global warming and retrieving of glaciers will change the productivity of the fjord and inevitably shape the rich and unique fjord ecosystems of the Arctic.

The heath vegetation in the Jauristunturit study area is highly affected by the reindeer fence that was built in the mid-1950s between Finland and Norway, to prevent summer grazing in the Norwegian side. In the study area, the Finnish and Norwegian pastures are used during different seasons, causing differences in reindeer grazing history, and with time differences in vegetation. Additionally, local topography also impacts the vegetation composition and structure creating variation in local vegetation patterns. My research questions are: How vegetation patterns differ between summer- and winter- grazed areas, and which plant functional groups have the most significant difference? How local topography affects vegetation patterns, and does the effect of topography differ between summer and winter pastures? The data was collected from five 400 m long transects that crossed the fence and had vegetation plots with 10-m intervals. The %-cover and height of each vascular plant, bryophyte, and lichen species were estimated from 0.25 m2 plots. Later, species data was grouped into functional groups and general linear models were used to analyze differences in cover, height, species number, biomass, and leaf-area indices between countries. Topography indices were calculated in GIS for each plot and analyzed with random forest models to find out the most important topography indices explaining vegetation patterns. The vegetation data was collected by four teams, and therefore, the comparability in the collected data between teams was analyzed. Significant vegetation differences were found in the ground layer, with higher cover and biomass of bryophytes on the Finnish side (mean biomass 168.2 vs. 65.2 g m-2). Reindeer lichens were more abundant on the Norwegian side (mean biomass 197.0 vs. 2.9 g m-2) which is visible in aerial and satellite images and in the field. Among vascular plants, evergreen dwarf shrubs had higher biomass and leaf area index on the Finnish side and dwarf birch had higher cover and height on the Norwegian side. Topography indices had a higher level of variance explained on the Norwegian side, and higher at the ground layer compared to vascular plants. Elevation had the greatest impact on vegetation, and after that, topography protection index for 50 m and depth to water stream network for 2 and 10 ha. The differences between data collectors were not considered to have a major impact on the results. The results indicate that there are significant differences in vegetation between summer- and winter-grazed areas, mainly in the ground layer, and most differences are caused by differences in reindeer grazing history, but also local topography has an impact.

Boreal mires are natural sources of methane and contribute considerably to the global methane budget. Therefore, in order to comprehend the overall impact that these ecosystems have on climate change, it is essential to understand the factors that influence processes involved in methane production and consumption. Factors affecting methane flux vary between different mires, but there is also great spatial and temporal variation in flux within mires. In previous studies, temperature and water table position have been shown to influence methane flux, but vegetation could aid in explaining the small-scale variation. Vegetation can indicate spatial variation in water table position, but also affect methane flux directly by the transportation of methane through plant tissues, and by providing substrate for microorganisms through primary production. Furthermore, redox potential is a poorly studied factor that can reflect if chemical conditions in peat are suitable for methane production or consumption, making it a useful tool in predicting methane flux. In this thesis, I seek to identify if small-scale spatial variation in the methane flux occurs within the studied mire area. In addition, I strive to identify important controllers of the observed spatiotemporal variation in methane flux, with a specific focus on the effect of vegetation properties and redox potential. Methane and carbon dioxide fluxes were measured with the closed chamber technique at a boreal fen in Sodankylä (67°22'06.6"N 26°39'16.0"E) during the growing season in 2019. Flux measurements were carried out at nine measurement plots belonging to three different vegetation types: flark, lawn and string. Coverage and height of plant functional groups were followed during the summer and continuous redox potential was measured for each plot. CH4 fluxes of different plots and vegetation types were compared to study the spatial variation in methane flux. Generalized additive models (GAM) were used to determine which variables are best to explain spatiotemporal variation in methane flux over the growing season. Mean methane flux during the summer was 0.94 ug CH4 m-2 s-1 which is in the same magnitude as observed in a previous study at the fen. Some small-scale spatial variation in the methane fluxes was observed at the study site, with strings having lower flux than flaks and lawns. However, overall the spatial variation was small, while temporal variation in methane flux over the growing season was considerable. The best model, that was a combination of vegetation, redox potential and environmental variables, and it explained 72 % of the observed variation in methane flux. Vascular plant variables were the most important variables in the model, whereas moss functional groups were of lesser importance. Redox potential in deeper peat layers was also important in the model, but redox potential closer to the surface was not found to be significant. Vegetation is an important controller of methane flux, and this information could potentially be used when predicting methane flux over larger areas by using remote sensing to map vegetation characteristics. Redox potential, on the other hand, is relatively easy to measure, and the result suggests that it could provide a useful tool for improving the predictions of methane flux.