Genetics of inherited small vessel diseases – in search of a novel small vessel disease and modifiers of the clinical course of CADASIL

The genetic and environmental risk factors of vascular cognitive impairment are still largely unknown. This thesis aimed to assess the genetic background of two clinically similar familial small vessel diseases (SVD), CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) and Swedish hMID (hereditary multi-infarct dementia of Swedish type). In the first study, selected genetic modifiers of CADASIL were studied in a homogenous Finnish CADASIL population of 134 patients, all carrying the p.Arg133Cys mutation in NOTCH3. Apolipoprotein E (APOE) genotypes, angiotensinogen (AGT) p.Met268Thr polymorphism and eight NOTCH3 polymorphisms were studied, but no associations between any particular genetic variant and first-ever stroke or migraine were seen. In the second study, smoking, statin medication and physical activity were suggested to be the most profound environmental differences among the monozygotic twins with CADASIL. Swedish hMID was for long misdiagnosed as CADASIL. In the third study, the CADASIL diagnosis in the Swedish hMID family was ruled out on the basis of genetic, radiological and pathological findings, and Swedish hMID was suggested to represent a novel SVD. In the fourth study, the gene defect of Swedish hMID was then sought using whole exome sequencing paired with a linkage analysis. The strongest candidate for the pathogenic mutation was a 3’UTR variant in the COL4A1 gene, but further studies are needed to confirm its functionality. This study provided new information about the genetic background of two inherited SVDs. Profound knowledge about the pathogenic mutations causing familial SVD is also important for correct diagnosis and treatment options.

Cleavages in contemporary Finland : a study on party-voter ties

Cleavages have been central in understanding the relationship between political parties and voters but the credibility of cleavage approach has been increasingly debated. This is because of decreasing party loyalty, fewer ideological differences between the parties and general social structural change amongst other factors. By definition, cleavages arise when social structural groups recognize their clashing interests, which are reflected in common values and attitudes, and vote for parties that are dedicated to defend the interests of the groups concerned. This study assesses relevance of cleavage approach in the Finnish context. The research problem in this study is “what kind of a cleavage structure exists in Finland at the beginning of the 21st century? Finland represents a case that has traditionally been characterized by a strong and diverse cleavage structure, notable ideological fragmentation in the electorate and an ideologically diverse party system. Nevertheless, the picture of the party-voter ties in Finland still remains incomplete with regard to a thorough analysis of cleavages. In addition, despite the vast amount of literature on cleavages in political science, studies that thoroughly analyze national cleavage structures by assessing the relationship between social structural position, values and attitudes and party choice have been rare. The research questions are approached by deploying statistical analyses, and using Finnish National Election Studies from 2003, 2007 and 2011as data. In this study, seven different social structural cleavage bases are analyzed: native language, type of residential area, occupational class, education, denomination, gender and age cohorts. Four different value/attitudinal dimensions were identified in this study: economic right and authority, regional and socioeconomic equality, sociocultural and European Union dimensions. This study shows that despite the weak overall effect of social structural positions on values and attitudes, a few rather strong connections between them were identified. The overall impact of social structural position and values and attitudes on party choice varies significantly between parties. Cleavages still exist in Finland and the cleavage structure partly reflects the old basis in the Finnish party system. The cleavage that is based on the type of residential area and reflected in regional and socioeconomic equality dimensions concerns primarily the voters of the Centre Party and the Coalition Party. The linguistic cleavage concerns mostly the voters of the Swedish People’s Party. The classic class cleavage reflected in the regional and socioeconomic equality dimension concerns in turn first and foremost the blue-collar voters of the Left Alliance and the Social Democratic Party, the agricultural entrepreneur voters of the Centre Party and higher professional and manager voters of the Coalition Party. The conflict with the most potential as a cleavage is the one based on social status (occupational class and education) and it is reflected in sociocultural and EU dimensions. It sets the voters of the True Finns against the voters of the Green League and the Coalition Party. The study underlines the challenges the old parties have met after the volatile election in 2011, which shook the cleavage structure. It also describes the complexity involved in the Finnish conflict structure and the multidimensionality in the electoral competition between the parties.

Grammatikdidaktik: Svensk grammatik och språklig medvetenhet i några läromedel för grundskolans första årskurser

Mitt övergripande forskningsintresse är grammatikdidaktik, medan det explicita syftet med denna licentiatavhandling är att erhålla ny kunskap om grammatikdidaktik så som den synliggörs i nutida läromedel för grundskolans första årskurser. Den empiriska undersökningen är gjord i tre nutida läromedelspaket avsedda för undervisning i skolämnet modersmål och litteratur i årskurs ett och två, läromedlen som undersöks är de finlandssvenska serierna Läseboken och Litteraturboken samt den sverigesvenska serien Kom och läs! Bland resultaten kan nämnas att det finns ett brett spektrum av nivåer av extern grammatik i alla de undersökta läromedelspaketen. Den fonologiska och syntaktiska medvetenheten, vilka bägge är viktiga för läs- och skrivutvecklingen i de diskuterade årskurserna, satsas på i alla tre läromedelspaket. Det jag dock också märkt i läromedlen som kan påverka läs- och skrivutvecklingen är att andelen belägg för grafonomi är större i årskurs två än i årskurs ett. Härigenom får eleverna på detta sätt småningom växa in i en skriftkultur. Det finns betydligt fler muntliga uppgifter i lärarhandledningarna till serierna Litteraturboken och Kom och läs! än i Läseboken. Det exakta ”hur” står inte alltid utskrivet i lärarhandledningarna, men de flesta gånger verkar tanken vara att det rör sig om diskussioner eller andra muntliga genrer. I många fall känns de muntliga uppgifterna mer funktionella än skriftliga uppgifter som inte verkar vara helt genomtänkta. Att mitt material innehåller fler funktionella uppgifter i lärarhandledningar och fler formalistiska eller delvis funktionella uppgifter i arbetsböcker överensstämmer med att lärarhandledningar kan vara en bättre väg för att öka elevernas kunskapssökande och minska förmedlingspedagogiken.

Äidin raskaudenaikaisen masennusoireilun ja vanhemmuuteen liittyvän stressin yhteys imetyksen kestoon

Tämän tutkimuksen tavoitteena oli tutkia äidin raskaudenaikaisten ja synnytyksenjälkeisten masennusoireiden vaikutuksia imetyksen kestoon ja vanhemman kokemukseen ruokailutilanteista lapsen ollessa yhden vuoden ikäinen. Lisäksi tavoitteena oli selvittää, miten äidin synnytyksenjälkeinen vanhemmuuteen liittyvä stressi vaikuttaa imetyksen kestoon ja kokemuksiin ruokailutilanteista vauvan kanssa. Tämä syventävien opintojen tutkielma on tehty FinnBrainin syntymäkohortin pilottiaineistosta, johon osallistui 203 äitiä ja lasta. Tutkimukseen rekrytoitiin vapaaehtoisia raskaana olevia naisia kumppaneineen Turusta, lähikunnista ja Ahvenanmaalta 12. raskausviikon ultraäänitutkimuksen yhteydessä. Tutkimusaineisto on kerätty kyselykaavakkeilla raskausviikoilla 18–22, 32–34, sekä lapsen ollessa kolmen ja kuuden kuukauden ikäinen. Tutkimusjoukon muodostivat henkilöt, jotka palauttivat kyselyn vähintään kerran raskauden aikana ja kuuden kuukauden kohdalla synnytyksestä. Masennusoireilua mitattiin Edinburgh Postnatal Depression Scale –kyselyllä ja synnytyksenjälkeistä vanhemmuuteen liittyvää stressiä lyhyellä versiolla The Swedish Parenthood Stress Questionnairesta. Sekoittavina tekijöinä tutkittiin äidin ikää, koulutusta, tupakointia ja synnytysten määrää. Tutkimuksessa ei havaittu yhteyttä raskaudenaikaisen ja synnytyksenjälkeisen masennuksen ja imetyksen keston tai vanhempien vauvan kanssa hankaliksi kokemien ruokailutilanteiden väliltä. Myöskään synnytyksenjälkeinen vanhemmuuteen liittyvä stressi ei ollut yhteydessä imetyksen kestoon tai hankaliin ruokailutilanteisiin lapsen kanssa. Aineistomme on pieni ja merkittäviä masennusoireita oli vain muutamalla äidillä. Raskaudenaikainen ja synnytyksenjälkeinen masennusoireilu oli lähes tilastollisesti merkitsevästi yhteydessä imetyksen kestoon, mutta tutkimuksen voima ei ollut riittävä. Masennusoireilun yhteys vanhemman kokemiin hankaliin ruokailutilanteisiin lapsen kanssa oli lähellä tilastollisesti merkitsevää. Pilottiaineiston tulokset viittaavat siihen, että tilastollisesti merkitseviä yhteyksiä saattaa löytyä, kun tutkittavien määrä kasvaa. Masennusoireista ja vanhemmuuteen liittyvästä stressistä kärsivät äidit on tärkeää löytää, jotta oireiluun voidaan puuttua ajoissa ja tukea imetyksen jatkamista.

Sweden, Denmark and Norway

Jones & Smith sc. Pentonville.

Beamsville Baptist Church papers, n.d.

The material outlines the history of the early Baptist church in Beamsville, from its inception in 1807 until approximately 1859. This may have been the basis of a manuscript on the history of the church.

Monetary Policy by Committee:Consensus, Chairman Dominance or Simple Majority?

This paper studies the theoretical and empirical implications of monetary policy making by committee under three different voting protocols. The protocols are a consensus model, where super-majority is required for a policy change; an agenda-setting model, where the chairman controls the agenda; and a simple majority model, where policy is determined by the median member. These protocols give preeminence to different aspects of the actual decision making process and capture the observed heterogeneity in formal procedures across central banks. The models are estimated by Maximum Likehood using interest rate decisions by the committees of five central banks, namely the Bank of Canada, the Bank of England, the European Central Bank, the Swedish Riksbank, and the U.S. Federal Reserve. For all central banks, results indicate that the consensus model is statically superior to the alternative models. This suggests that despite institutionnal differences, committees share unwritten rules and informal procedures that deliver observationally equivalent policy decisions.

« Tomorrow Belongs To Me » : représentations de la femme dans une ballade suprémaciste blanche

La version intégrale de ce mémoire est disponible uniquement pour consultation individuelle à la Bibliothèque de musique de l’Université de Montréal (www.bib.umontreal.ca/MU).

Gender and work identity among Canadian cowboys

L’objectif général de ce mémoire est de comprendre l‘impact du genre sur l’identité de travail des cowboys, dans leur milieu de travail et de vie dans un ranch du Canada. Cette étude vise à contribuer aux études sur le genre en utilisant des théories existantes pour les appliquer à un nouveau champ. Sur la base d’une approche théorique fondée dans le féminisme et les études sur la masculinité, en utilisant aussi l’histoire des cowboys de l’Ouest, cette étude se penche sur la question de l’importance du genre dans la division du travail dans le ranch, celle de l’identité de travail des cowboys et sur la façon dont le genre affecte cette identité. La collecte des données s’est faite par l’observation participante et des entrevues semi-structurées. En utilisant une analyse thématique des données, l’étude conclut que le genre est un principe important dans la division du travail dans le ranch et que l’identité de travail est d’une extrême importance pour les cowboys. En outre, l’étude démontre que le genre jour de différentes façons dans l’identité de travail, l’hétéronormativité et les idéaux du cowboy allant dans le même sens, alors que la féminité s’oppose à cet idéal. Les traditions sont encore importantes pour les cowboys contemporains, mais en même temps, ceux-ci mentionnent la réalité du travail éreintant et sans fin comme contrepoids à l’image romantique de la vie des cowboys. Enfin, il y a des similitudes entre les cowboys de cette étude et les adolescentes suédoises étudies par Ambjörnsonn (2004) dans la façon dont le groupe se crée une identité sur la base du genre.

Adapter l'opéra au cinéma, entre création et reproduction : étude sociologique de "La Flûte enchantée" de Bergman

La version intégrale de ce mémoire est disponible uniquement pour consultation individuelle à la Bibliothèque de musique de l’Université de Montréal www.bib.umontreal.ca/MU).

Vers la fin du modèle suédois? : une étude des réformes des politiques d'éducation et de santé

L’objectif de ce mémoire est d’identifier la nature des changements des politiques sociales adoptés entre 1988 et 1998 en Suède et ainsi de mieux comprendre l’état actuel du modèle suédois, caractérisé dans la littérature par l’institutionnalisation des valeurs d’égalité sociale et d’universalisme. À l’aide d’une grille d’analyse inférée à partir de la typologie des changements de politiques publiques de Peter Hall, l’auteure pose l’hypothèse selon laquelle un changement de paradigme est survenu dans les secteurs de l’éducation obligatoire et de la santé. À l’issue de cette étude, il est démontré que, si le paradigme a effectivement été contesté au cours de la période de réforme étudiée, il est toujours en vigueur à la fin des années 1990. Toutefois, l’effet cumulé des changements d’instruments l’ont miné peu à peu durant les décennies suivantes. Les conséquences de ces changements, devenues des « anomalies », menacent aujourd’hui l’existence du modèle suédois.

Interatomic potential structures in highly ionized scattering systems

The interatomic potential of the ion-atom scattering system I^N+-I at small intermediate internuclear distances is calculated for different charge states N from atomic Dirac-Focker-Slater (DFS) electron densities within a statistical model. The behaviour of the potential structures, due to ionized electronic shells, is studied by calculations of classical elastic differential scattering cross-sections.

Relativistic calculations of atomic structure

A review of relativistic atomic structure calculations is given with a emphasis on the Multiconfigurational-Dirac-Fock method. Its problems and deficiencies are discussed together with the contributions which go beyond the Dirac-Fock procedure.

Analysis of the electronic structure, hyperfine structure, and volume isotope shifts in the low lying states of BA I and BA II

Relativistic multi-configuration Dirac Fock (MCDF) wavefunctions coupled to good angular momentum J have been calculated for low lying states of Ba I and Ba II. These wavefunctions are compared with semiempirical ones derived from experimental atomic energy levels. It is found that significantly better agreement is obtained when close configurations are included in the MCDF wavefunctions. Calculations of the electronic part of the field isotope shift lead to very good agreement with electronic factors derived from experimental data. Furthermore, the slopes of the lines in a King plot analysis of many of the optical lines are predicted accurately by these calculations. However, the MCDF wavefunctions seem not to be of sufficient accuracy to give agreement with the experimental magnetic dipole and electric quadrupole hyperfine structure constants.

Further investigations on doubly excited four-electron ions: beam-foil experiment and MCDF theory

In continuation of our previous work on the quintet transitions 1s2s2p^2 ^5 P-1s2s2p3d ^5 P^0, ^5 D^0, results on other n = 2 - n' = 3 quintet transitions for elements N, 0 and F are presented. Assignments have been established by comparison with Multi-Configuration Dirac-Fock calculations. High spectral resolution on beam-foil spectroscopy was essential for the identification of most of the lines. For some of the quintet lines decay curves were measured, and the lifetimes extracted were found to be in reasonable agreement with MCDF calculations.