117,478 research outputs found
Early Childhood Education and Care in Finland : Compassion in narrations of early childhood education student teachers
No full textRajala, A. & Lipponen, L. (2018). Compassion in narrations of early childhood education student teachers in Finland. In S. Garvis, S. Phillipson &H. Harju-Luukkainen (Eds.), Volume I. Early Childhood Education in the 21st Century: An international perspective. Routledge.Peer reviewe
MitAtax : hereditary ataxias in Northern Finland
No full textAbstract
Hereditary ataxias are a group of rare neurological disorders, affecting the cerebellum and its afferent and efferent pathways. To date, more than 100 causative genes have been identified. We ascertained a cohort of 96 patients with either known or suspected hereditary ataxia to study the genetic background and clinical features of Finnish ataxia. Molecular testing for pathogenic variants known to cause ataxia, POLG, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8(OS), TBP, FXN, SPG7 and RFC1 was performed for all probands. Whole exome sequencing was performed for selected patients. A genetic diagnosis was found for 34 patients. Polyglutamine expansions in ATXN8(OS) causing SCA8 was the most common form of dominantly inherited ataxia. The recently described intronic (AAGGG)exp pentanucleotide expansion in RFC1 causing CANVAS and homozygous p.Trp748Ser variant in POLG causing mitochondrial ataxia-polyneuropathy spectrum disorders are the most common forms of recessive ataxia in Finland. Because of limited resources, molecular investigations were performed selectively. Hence, it is likely that a proportion of patients remained without a definite diagnosis. The use of next-generation sequencing technologies in the future will reduce this proportion. Nineteen probands were clinically evaluated using clinical scales SARA and INAS. The probands and 21 healthy controls then performed instrumented versions of the finger-to-nose test, utilizing kinetic sensors to quantify upper limb ataxia. The performance of probands in the finger-to-nose test was compared with their SARA scores and the performance of healthy controls. We found that ataxic patients slow down their movements in order to gain accuracy, resulting in highly variable slow movements, but the end-point accuracy remains fairly intact. Original papers Kytövuori, L., Lipponen, J., Rusanen, H., Komulainen, T., Martikainen, M. H., & Majamaa, K. (2016). A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. Journal of Neurology, 263(11), 2188–2195. https://doi.org/10.1007/s00415-016-8249-2 https://doi.org/10.1007/s00415-016-8249-2 Lipponen, J., Helisalmi, S., Raivo, J., Siitonen, A., Doi, H., Rusanen, H., Lehtilahti, M., Ryytty, M., Laakso, M., Tanaka, F., Majamaa, K., & Kytövuori, L. (2021). Molecular epidemiology of hereditary ataxia in Finland. BMC Neurology, 21(1), 382. https://doi.org/10.1186/s12883-021-02409-z https://doi.org/10.1186/s12883-021-02409-z Self-archived version Lipponen, J., Tiulpin, A., Majamaa, K., & Rusanen, H. (2022). Quantification of upper limb movements in patients with hereditary or idiopathic ataxia. Advance online publication. https://doi.org/10.1007/s12311-022-01485-2 https://doi.org/10.1007/s12311-022-01485-2 Tiivistelmä
Perinnölliset ataksiat ovat joukko harvinaisia neurologisia sairauksia, jotka vaurioittavat pikkuaivoja ja pikkuaivoihin kytkeytyviä hermoratoja. Perinnöllistä ataksiaa aiheuttavia geenivirheitä on yli sata. Tutkiaksemme suomalaista ataksiaperimää sekä ataksian kliinisiä piirteitä tunnistimme 96 ataksiapotilaan kohortin OYS:n sairauskertomustietojen perusteella. Tutkimme mahdolliset ataksiaa aiheuttavat mutaatiot geeneistä POLG, ATXN, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8(OS), TBP, FXN, SPG7 ja RFC1 sekä tunnetut ataksiaa aiheuttavat pistemutaatiot mitokondriaalisesta DNA:sta. Kokoeksomin sekvensointi suoritettiin valikoiduille potilaille. Rajallisten resurssien vuoksi molekulaarisia tutkimuksia tehtiin valikoidusti, minkä takia merkittävä osa potilaista jäi ilman diagnoosia. Tutkimuksemme perusteella Suomessa yleisin dominantisti periytyvän ataksian aiheuttaja on polyglutamiinitoistojaksolaajentuma ATXN8(OS)-geenissä. Vastikään tunnistettu pentanukleotiditoistojakso RFC1-geenin intronialueella sekä homotsygootti p.Trp748Ser-pistemutaatio POLG-geenissä ovat yleisimmät resessiivisesti periytyvän ataksian aiheuttajat. Tutkimuksemme aikana annoimme geneettisen diagnoosin 34 potilaalle. Seuraavan sukupolven sekvensointitekniikoita pitäisi hyödyntää osana ataksiapotilaiden arviointia oikean diagnoosin saavuttamiseksi. Tutkimuksemme kliinisessä osassa arvioimme 19 potilasta käyttäen semikvantitatiivisia SARA- ja INAS-asteikkoja. Potilaiden suoriutumista sormi-nenänpää-kokeessa arvioitiin kineettisten sensoreiden tuottaman kiihtyvyysdatan sekä kosketusnäytön mittaustulosten avulla. Potilaiden suoritusta verrattiin 21 terveen kontrollihenkilön suoritukseen sekä SARA-asteikon tuloksiin. Havaitsimme, että yläraajakokeissa ataktiset potilaat hidastavat liikettä, jotta liikkeen tarkkuus säilyisi. Tämän seurauksena liikesuoritukset muuttuvat ajoitukseltaan vaihteleviksi ja hitaiksi, mutta liikesuorituksen päätepisteen tarkkuus säilyy. Osajulkaisut Kytövuori, L., Lipponen, J., Rusanen, H., Komulainen, T., Martikainen, M. H., & Majamaa, K. (2016). A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. Journal of Neurology, 263(11), 2188–2195. https://doi.org/10.1007/s00415-016-8249-2 https://doi.org/10.1007/s00415-016-8249-2 Lipponen, J., Helisalmi, S., Raivo, J., Siitonen, A., Doi, H., Rusanen, H., Lehtilahti, M., Ryytty, M., Laakso, M., Tanaka, F., Majamaa, K., & Kytövuori, L. (2021). Molecular epidemiology of hereditary ataxia in Finland. BMC Neurology, 21(1), 382. https://doi.org/10.1186/s12883-021-02409-z https://doi.org/10.1186/s12883-021-02409-z Rinnakkaistallennettu versio Lipponen, J., Tiulpin, A., Majamaa, K., & Rusanen, H. (2022). Quantification of upper limb movements in patients with hereditary or idiopathic ataxia. Advance online publication. https://doi.org/10.1007/s12311-022-01485-2 https://doi.org/10.1007/s12311-022-01485-2 Academic dissertation to be presented with the assent of the Doctoral Programme Committee of Health and Biosciences of the University of Oulu for public defence in Auditorium 8 of Oulu University Hospital (Kajaanintie 50), on 8 March 2024, at 12 noonAbstract
Hereditary ataxias are a group of rare neurological disorders, affecting the cerebellum and its afferent and efferent pathways. To date, more than 100 causative genes have been identified. We ascertained a cohort of 96 patients with either known or suspected hereditary ataxia to study the genetic background and clinical features of Finnish ataxia. Molecular testing for pathogenic variants known to cause ataxia, POLG, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8(OS), TBP, FXN, SPG7 and RFC1 was performed for all probands. Whole exome sequencing was performed for selected patients. A genetic diagnosis was found for 34 patients. Polyglutamine expansions in ATXN8(OS) causing SCA8 was the most common form of dominantly inherited ataxia. The recently described intronic (AAGGG)exp pentanucleotide expansion in RFC1 causing CANVAS and homozygous p.Trp748Ser variant in POLG causing mitochondrial ataxia-polyneuropathy spectrum disorders are the most common forms of recessive ataxia in Finland. Because of limited resources, molecular investigations were performed selectively. Hence, it is likely that a proportion of patients remained without a definite diagnosis. The use of next-generation sequencing technologies in the future will reduce this proportion. Nineteen probands were clinically evaluated using clinical scales SARA and INAS. The probands and 21 healthy controls then performed instrumented versions of the finger-to-nose test, utilizing kinetic sensors to quantify upper limb ataxia. The performance of probands in the finger-to-nose test was compared with their SARA scores and the performance of healthy controls. We found that ataxic patients slow down their movements in order to gain accuracy, resulting in highly variable slow movements, but the end-point accuracy remains fairly intact.Tiivistelmä
Perinnölliset ataksiat ovat joukko harvinaisia neurologisia sairauksia, jotka vaurioittavat pikkuaivoja ja pikkuaivoihin kytkeytyviä hermoratoja. Perinnöllistä ataksiaa aiheuttavia geenivirheitä on yli sata. Tutkiaksemme suomalaista ataksiaperimää sekä ataksian kliinisiä piirteitä tunnistimme 96 ataksiapotilaan kohortin OYS:n sairauskertomustietojen perusteella. Tutkimme mahdolliset ataksiaa aiheuttavat mutaatiot geeneistä POLG, ATXN, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8(OS), TBP, FXN, SPG7 ja RFC1 sekä tunnetut ataksiaa aiheuttavat pistemutaatiot mitokondriaalisesta DNA:sta. Kokoeksomin sekvensointi suoritettiin valikoiduille potilaille. Rajallisten resurssien vuoksi molekulaarisia tutkimuksia tehtiin valikoidusti, minkä takia merkittävä osa potilaista jäi ilman diagnoosia. Tutkimuksemme perusteella Suomessa yleisin dominantisti periytyvän ataksian aiheuttaja on polyglutamiinitoistojaksolaajentuma ATXN8(OS)-geenissä. Vastikään tunnistettu pentanukleotiditoistojakso RFC1-geenin intronialueella sekä homotsygootti p.Trp748Ser-pistemutaatio POLG-geenissä ovat yleisimmät resessiivisesti periytyvän ataksian aiheuttajat. Tutkimuksemme aikana annoimme geneettisen diagnoosin 34 potilaalle. Seuraavan sukupolven sekvensointitekniikoita pitäisi hyödyntää osana ataksiapotilaiden arviointia oikean diagnoosin saavuttamiseksi. Tutkimuksemme kliinisessä osassa arvioimme 19 potilasta käyttäen semikvantitatiivisia SARA- ja INAS-asteikkoja. Potilaiden suoriutumista sormi-nenänpää-kokeessa arvioitiin kineettisten sensoreiden tuottaman kiihtyvyysdatan sekä kosketusnäytön mittaustulosten avulla. Potilaiden suoritusta verrattiin 21 terveen kontrollihenkilön suoritukseen sekä SARA-asteikon tuloksiin. Havaitsimme, että yläraajakokeissa ataktiset potilaat hidastavat liikettä, jotta liikkeen tarkkuus säilyisi. Tämän seurauksena liikesuoritukset muuttuvat ajoitukseltaan vaihteleviksi ja hitaiksi, mutta liikesuorituksen päätepisteen tarkkuus säilyy
Online Tutoring Styles in Networked Learning Communities: A Multi-method Approach
No full textThe aim of this paper is to study the online tutoring styles of two teachers who each tutor a networked learning community (NLC), within the same workshop. The study is undertaking empirical work using a multi-method approach in order to triangulate and contextualize our findings and enrich our understanding of the teacher’s involvement in these NLC’s. We apply social network analysis (SNA) to visualise the social structure of the NLC, content analysis (CA) to identify learning and teaching processes, critical event recall (CER) to gather the teacher’s personal experiences and intentions. This paper reports some of the current findings of our work and discusses future prospects. This study is part of a continuing international study that is investigating networked collaborative learning as a way to develop a rich descriptive body of evidence of tutoring and learning processes in e-learning
Teaching online in Networked Learning Communities: A multi-method approach
No full textThe aim of this paper is to study the online tutoring styles of two teachers who each tutor a networked learning community (NLC), within the same workshop. The study is undertaking empirical work using a multi-method approach in order to triangulate and contextualize our findings and enrich our understanding of the teacher’s involvement in these NLC’s. We apply social network analysis (SNA) to visualise the social structure of the NLC, content analysis (CA) to identify learning and teaching processes, critical event recall (CER) to gather the teacher’s personal experiences and intentions. This paper reports some of the current findings of our work and discusses future prospects. This study is part of a continuing international study that is investigating networked collaborative learning as a way to develop a rich descriptive body of evidence of tutoring and learning processes in e-learning
Analysing student engagement with learning and tutoring activities in networked learning communities: A multi-method approach
No full text
Online teaching in networked learning communities: A multi-method approach to studying the role of the teacher
No full textGoing Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Square Dancing with the Stars to Enhance Dynamic Hirschman Linkages?
No full textIn this Presidential Address, the author takes the reader on a reconnaissance of his life and time as a regional scientist. He points out scenery he found scintillating along the way, hoping that some may pick up the banner and chew on a few of the ideas for a while. He suggests a revisit to Albert O. Hirschman’s notion of key sectors and more empirical analysis related to Marcus Berliant’s and Masahisa Fujita’s notion of knowledge creation and transfer.Presidential Address, San Antonio, Texas, March 29, 2014 (53rd Meetings of the Southern Regional Science Association
Appropriate Similarity Measures for Author Cocitation Analysis
No full textWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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