Urine Fetuin-A is a biomarker of autosomal dominant polycystic kidney disease progression.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by numerous fluid-filled cysts that frequently result in end-stage renal disease. While promising treatment options are in advanced clinical development, early diagnosis and follow-up remain a major challenge. We therefore evaluated the diagnostic value of Fetuin-A as a new biomarker of ADPKD in human urine. RESULTS: We found that renal Fetuin-A levels are upregulated in both Pkd1 and Bicc1 mouse models of ADPKD. Measurement by ELISA revealed that urinary Fetuin-A levels were significantly higher in 66 ADPKD patients (17.5 ± 12.5 μg/mmol creatinine) compared to 17 healthy volunteers (8.5 ± 3.8 μg/mmol creatinine) or 50 control patients with renal diseases of other causes (6.2 ± 2.9 μg/mmol creatinine). Receiver operating characteristics (ROC) analysis of urinary Fetuin-A levels for ADPKD rendered an optimum cut-off value of 12.2 μg/mmol creatinine, corresponding to 94% of sensitivity and 60% of specificity (area under the curve 0.74 ; p = 0.0019). Furthermore, urinary Fetuin-A levels in ADPKD patients correlated with the degree of renal insufficiency and showed a significant increase in patients with preserved renal function followed for two years. CONCLUSIONS: Our findings establish urinary Fetuin-A as a sensitive biomarker of the progression of ADPKD. Further studies are required to examine the pathogenic mechanisms of elevated renal and urinary Fetuin-A in ADPKD.

Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells.

Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone. Using human embryonic stem cells (hESC) characterized as carrying mutations associated with adult-onset disease during pre-implantation genetic diagnosis, we investigated the influence of human HTT and of an adult-onset HD mutation on mitotic spindle orientation in human neural stem cells (NSCs) derived from hESCs. The RNAi-mediated silencing of both HTT alleles in neural stem cells derived from hESCs disrupted spindle orientation and led to the mislocalization of dynein, the p150Glued subunit of dynactin and the large nuclear mitotic apparatus (NuMA) protein. We also investigated the effect of the adult-onset HD mutation on the role of HTT during spindle orientation in NSCs derived from HD-hESCs. By combining SNP-targeting allele-specific silencing and gain-of-function approaches, we showed that a 46-glutamine expansion in human HTT was sufficient for a dominant-negative effect on spindle orientation and changes in the distribution within the spindle pole and the cell cortex of dynein, p150Glued and NuMA in neural cells. Thus, neural derivatives of disease-specific human pluripotent stem cells constitute a relevant biological resource for exploring the impact of adult-onset HD mutations of the HTT gene on the division of neural progenitors, with potential applications in HD drug discovery targeting HTT-dynein-p150Glued complex interactions.

Rebuilding Defenses: Explorations in Norman Fairclough’s Theory of Critical Discourse Analysis

Tutkielmassa eritellään Norman Faircloughin kriittisen diskurssianalyysin teoriaa ja siihen kohdistettua kritiikkiä. Pyrkimyksenä on sovittaa näitä erilaisia näkemyksiä keskenään ja tarjota ratkaisuja yhteen kiriittisen diskurssianalyysin keskeiseen ongelmaan eli emansipaation (sosiaalisten epäkohtien tunnistamisen ja ratkaisemisen) puutteellisuuteen. Teoriaosuudesta esiin nousevia mahdollisuuksia sovelletaan tekstianalyysiin. Tutkimuksen kohteena on teksti Rebuilding America’s Defenses: Strategy, Forces and Resources For a New Century ja jossain määrin sen tuottanut järjestö Project for the New American Century. Näitä tarkastellaan ennen kaikkea sosiaalisina ilmiöinä ja suhteessa toisiinsa. Faircloughin mallin suurimmiksi ongelmiksi muodostuvat perinteinen käsitys kielestä, jonka mukaan kielen järjestelmän abstraktit ja sisäiset suhteet ovat tärkeimpiä, sekä ideologinen vastakkainasettelu kritiikin lähtökohtana. Ensimmäinen johtaa kielellisten tutkimustulosten epätyydyttävään kykyyn selittää sosiaalisia havaintoja ja jälkimmäinen poliittiseen tai maailmankatsomukselliseen väittelyyn, joka ei mahdollista uusia näkemyksiä. Tutkielman lopputulema on, että keskittymällä asiasisältöön kielen rakenteen sijasta ja ymmärtämällä tekstin tuottaja yksittäisenä, rajattuna sosiaalisena toimijana voidaan analyysiin saada avoimuutta ja täsmällisyyttä. Kriittiinen diskurssianalyysi kaipaa tällaista näkemystä kielellisten analyysien tueksi ja uudenlaisen relevanssin löytääkseen.

Perspectives interculturelles et interlinguistiques sur le discours académique – Crosscultural and Crosslinguistic Perspectives on Academic Discourse. Volume 1

The Department of French Studies of the University of Turku (Finland) organized an International Bilingual Conference on Crosscultural and Crosslinguistic Perspectives on Academic Discourse from 2022 May 2005. The event hosted specialists on Academic Discourse from Belgium, Finland, France, Germany, Italy, Norway, Spain, and the USA. This book is the first volume in our series of publications on Academic Discourse (AD hereafter). The following pages are composed of selected papers from the conference and focus on different aspects and analytical frameworks of Academic Discourse. One of the motivations behind organizing the conference was to examine and expand research on AD in different languages. Another one was to question to what extent academic genres are culturebound and language specific or primarily field or domain specific. The research carried out on AD has been mainly concerned with the use of English in different academic settings for a long time now – mainly written contexts – and at the expense of other languages. Alternatively the academic genre conventions of English and English speaking world have served as a basis for comparison with other languages and cultures. We consider this first volume to be a strong contribution to the spreading out of researches based on other languages than English in AD, namely Finnish, French, Italian, Norwegian and Romanian in this book. All the following articles have a strong link with the French language: either French is constitutive of the AD corpora under examination or the article was written in French. The structure of the book suggests and provides evidence that the concept of AD is understood and tackled to varying degrees by different scholars. Our first volume opens up the discussion on what AD is and backs dissemination, overlapping and expansion of current research questions and methodologies. The book is divided into three parts and contains four articles in English and six articles in French. The papers in part one and part two cover what we call the prototypical genre of written AD, i.e. the research article. Part one follows up on issues linked to the 13 Research Article (RA hereafter). Kjersti Fløttum asks wether a typical RA exists and concentrates on authors’ voices in RA (self and other dimensions), whereas Didriksen and Gjesdal’s article focuses on individual variation of the author’s voice in RA. The last article in this section is by Nadine Rentel and deals with evaluation in the writing of RA. Part two concentrates on the teaching and learning of AD within foreign language learning, another more or less canonical genre of AD. Two aspects of writing are covered in the first two articles: foreign students’ representations on rhetorical traditions (Hidden) and a contrastive assessment of written exercices in French and Finnish in Higher Education (Suzanne). The last contribution in this section on AD moves away from traditional written forms and looks at how argumentation is constructed in students’ oral presentations (Dervin and Fauveau). The last part of the book continues the extension by featuring four articles written in French exploring institutional and scientific discourses. Institutional discourses under scrutiny include the European Bologna Process (Galatanu) and Romanian reform texts (Moilanen). As for scientific discourses, the next paper in this section deconstructs an ideological discourse on the didactics of French as a foreign language (Pescheux). Finally, the last paper in part three reflects on varied forms of AD at university (Defays). We hope that this book will add some fuel to continue discussing diverse forms of and approches to AD – in different languages and voices! No need to say that with the current upsurge in academic mobility, reflecting on crosscultural and crosslinguistic AD has just but started.

DISAGREEING OVER EVALUATIVES: PREFERENCE, NORMATIVE AND MORAL DISCOURSE

Abstract Why would we argue about taste, norms or morality when we know that these topics are relative to taste preferences, systems of norms or values to which we are committed? Yet, disagreements over these topics are common in our evaluative discourses. I will claim that the motives to discuss rely on our attitudes towards the standard held by the speakers in each domain of discourse, relating different attitudes to different motives -mainly, conviction and correction. These notions of attitudes and motives will allow me to claim that different domains of evaluative discourse have a different distribution of disagreements driven by them.

"It's Barack Obama Who's Soft" Political Bias on BBC, CNN, and Fox News: A Critical Discourse Analysis of News Websites

Tutkielmassa analysoidaan kolmen internetsivuston uutisartikkeleita kielitieteen näkökulmasta. Tavoitteena on selvittää esiintyykö internetsivustojen BBC, CNN ja Fox News uutisoinnissa politiikkaan liittyviä ennakkoasenteita tai puolueellisuuksia ja miten ne käytännössä näkyvät uutisartikkeleiden kielessä. Kriittiseen diskurssianalyysiin pohjautuen tutkielma esittelee jokaisen uutissivuston taustaan (esimerkiksi rakenteeseen ja rahoitukseen) liittyviä seikkoja sekä mediadiskurssiin ja politiikkaan liittyvät taustatiedot, jolla taataan Norman Fairclough'n kolmivaiheisen menetelmän mahdollisimman perusteellinen toteuttaminen. Uutissivustoja analysoidaan kriittiselle diskurssianalyysille sopivan funktionaalisen kieliopin ja muiden lingvististen välineiden avulla. Koko aineiston (404 artikkelia) otsikot analysoidaan ensin, minkä jälkeen analysoidaan yhdeksän kokonaista artikkelia kolmeen eri aihealueeseen liittyen niin, että jokaiselta internetsivustolta analysoidaan yksi artikkeli jokaista aihetta kohden. Analyysikeinoina käytetään ensisijaisesti systeemis-funktionaalisen kieliopin tekstuaalisen metafunktion välineitä (thematic structure). Myös ideationaalisen metafunktion välineitä (transitivity), referenssiketjuja (referential identity chains) ja leksikaalista analyysia käytetään hyväksi. Lähtökohtaisesti tavoitteena on analysoida uutissivustoja vertailevasti, jolloin analyysin tulokset ovat paremmin havainnoitavissa ja perusteltavissa. Hypoteesi aikaisempien tutkimusten ja yleisen mielikuvan perusteella on, että CNN uutisoi demokraattipuolueelle ja Fox News taas republikaanipuolueelle edulliseen sävyyn. Tutkimustulokset vaihtelivat hypoteesia tukevista ja sen vastaisista tuloksista niihin, jotka eivät olleet tarpeeksi tuettuja kumpaankaan suuntaan. Vahvimmat tulokset ovat kuitenkin hypoteesia tukevia, joten tässä tutkielmassa todetaan, ettei uutisointi ole puolueetonta ainakaan näiden kolmen internetsivuston kohdalla. Lisäksi muutaman aihealueen kohdalla uutisointi on niin toistuvaa tietystä näkökulmasta, että luonnollistumisteorian mukaista aatteiden luonnollistumista saattaa tapahtua. Tutkielmassa käytettyjen menetelmien menestyksen perusteella suositellaan, että tekstuaalisen metafunktion analyysivälineitä käytetään enemmän. Lisäksi suositellaan meta-analyysin harkitsemista, jotta voitaisiin selvittää, mitkä analyysimetodit parhaiten sopivat minkäkinlaisen aineiston analysointiin.

Irruptive discourse and conflicted curiosity

Kirjallisuusarvostelu

Perspectives on narrative discourse markers : focus on Old English þa

Ett element som har intresserat forskarna av fornengelska sedan början av filologiska studier är adverbet þa ’då’, som är högfrekvent i många berättande texter. Utöver ordföjldsregeln enligt vilken satsinitialt þa följs av omvänd ordföljd, finns det redan tidigt kommentarer om användningen av þa för emfas, livlighet och konnektivitet. Även om sådana karakteriseringar tar den textuella kontexten i beaktande, är deras fokus inte på diskursfunktioner utan på satsgrammatik. Denna avhandling betraktar användningen av þa från diskursstrukturens perspektiv och undersöker dess funktioner i markeringen av berättelsens huvudlinje (eng. grounding), kohesiva kontinuiter (eng. continuities), samt vändpunkter och spänning (eng. peak, tension) i texten. I stället för att fokusera på bara en funktion som har associerats med þa, undersöks denna frekventa element från olika perspektiv. Genom både kvantitativa och kvalitativa analyser av narrativt material, visar de inkluderade delstudierna att detta ord spelar en viktig roll i struktureringen av fornengelska berättelser. Parallellt med kärnfunktionen att markera berättelsens huvudlinje, används þa i samspel med andra strukturerande element för att uttrycka den hierarkiska strukturen och spänning i berättelsen. Jämförelser med andra uttryck av temporal kontinuitet visar att þa skiljer sig från dem i sina användningsmönster, vilket vidare bekräftar dess status som en narrativ diskursmarkör.

Extremfall, stjärnelever och verktygsskramlare : en diskursanalytisk studie av lärares tal om studerande som behöver särskilt stöd

The groups within Finnish vocational upper secondary education and training (VET) are often heterogeneous with respect to the student's need for support in their studies. According to the national core curricula, Special Education Needs (SEN) students should in the first place, get their education in the same group as everyone else. This dissertation aims to clarify and create an understanding about how the ideals and intention of equality in education is constructed in communication among teachers in VET in the Swedish-speaking parts of Finland. Through this understanding it should be possible to highlight a potential which could ultimately contribute to a positive development of a more inclusive education within VET. The epistemological platform of the study is to be found within the post structuralist philosophy of language that is considered as subsumed in a social constructionist thinking. The data has been collected through focus group discussions in groups of 3–6 participants (teachers) in seven schools in Finnish-Swedish VET. The analyses are based on a discursive psychological analysis combined with an analysis based on Michel Foucault's concepts with an emphasis on the subject, government and power. Four discourser where identified in the analysis of teachers' constructions of the educational assignment in relation to SEN students. The most dominant was discussing the educational assignment as a pragmatic project i.e. as a matter of transmission of knowledge. The discourse included both interpretative repertoires where the heterogeneous group was constructed as self-evident and possible to manage as well as a constructed as an impossible project. The educational assignment was also constructed as a holistic project, as part of a democratic project, and as a labor market project. Each discourse contains both including as well as excluding features in relation to SEN students. The development of an inclusive practice can and should therefore include elements from all of them. Three discourses were identified in the analysis concerning teachers' versions of SEN students: students with difficulties and problems; students who do not use or do not have ability and students who are irresponsible and lack the will to study. Within the various discourses and interpretative repertoires were both constructs when teachers described a concern and kindness in relation to the individual SEN student and constructions where teachers mainly expressed fears that other students in the group would be negatively affected by students in need of special support. Results from the third research question conclude the results from the two others, the analysis is done out of a government perspective. In the material use of different government techniques are identified: disciplinary power through direct reprimands; pastoral power by a desire of insight in order to promote the opportunities for consultation and the use of bio-power that primarily focuses on what is best for the population and whose tool racism results in a legitimation of the exclusion of SEN students. The conclusion is that teachers in VET need to pay attention to inclusive and exclusive elements identified in various discourses.

Providing Discourse Services for Researchers in a Repository Setting

Poster at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

Reproductive biology of Protium spruceanum (Burseraceae), a dominant dioecious tree in vegetation corridors in Southeastern Brazil

We investigated the reproductive biology of Protium spruceanum (Benth.) Engler in vegetation corridors of secondary Atlantic forest in Lavras, southern Minas Gerais State, Brazil. The reproductive phenology was investigated fortnightly over a one year period. Floral biology studies involved pollen viability analysis, nectar production, stigmatic receptivity, pollen tube growth, visiting insect species and visit rates. The small, pale yellowish flowers (0.3-0.4 cm diameter) are functionally unisexual and organized in dense inflorescences (ca. 45 flowers). P. spruceanum presented annual flowering between September and November. Staminate flowers supplied a high percentage of viable pollen (90.6%) and relatively abundant nectar (x = 4.5 μL). Pistillate flowers produced only nectar to flower visitors (x = 4.0 μL). The effective pollinators were Apis mellifera and Trigona sp. (Hymenoptera, Apidae). Pollen tubes of cross-pollinated flowers were observed entering the ovaries 48 h after pollination. The fruiting season is from October to March, with a peak in November, coinciding with the rainfall peak. Ecological implications of these findings, and alternative arguments to explain the high genetic diversity at regional landscape are discussed.

Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia

We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Fried's tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).