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    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The 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

    MitAtax : hereditary ataxias in Northern Finland

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    Abstract 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

    Tietoturvallisuuden kartoitus ja kehitys

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    Organisaatioiden tietoturvallisuuden tason kehittäminen on lähtökohtaisesti hankalaa ja toiminnan kehitykseen on hyvä ottaa yleisesti tiedossa olevia ja käytettyjä toimintaa tukevia viitekehyksiä. Taustana toimi kohdeorganisaatiossa harjoittelujakson aikana suoritettu tutkimus, josta syntyi idea kartoittaa organisaation tietoturvallista toimintaa tuotekehitysosastolla. Tehtävänä oli tutkia kohdeorganisaation tietoturvallisuuden tasoa tuotekehityksessä ISO 27001-viitekehyksen mukaan. Tavoitteellisesti luotiin nykytilan analyysi tietoturvallisuuden hallintajärjestelmän vaatimuksista eli ISO 27001 standardista. Nykytilan analyysin perusteella valittiin yksi epäkohta, johon luotiin kehitysehdotus, joka tässä tapauksessa käsitti tietoturvakoulutuksen kehityksen. Työ toteutettiin laadullisena tutkimuksena, jossa tietoa organisaation toiminnasta hankittiin avoimien haastatteluiden kautta sekä aikaisemman tutkimuksen perusteella. Tuloksena luotiin yleistason nykytilan arviointi, jossa käytettiin moniportaista arviointimenetelmää vaatimuksen täyttymisestä tuotekehityksen toiminnassa. Kehitettiin tietoturvakoulutukseen perustasoehdotus sekä ehdotettiin koulutuskehyksen muodostamiseen mallia ja tapoja, joilla seurata koulutuksen suorituskykyä. Johtopäätöksenä voitiin todeta, että kyseisen viitekehyksen noudattaminen sinällään on raskas metodi pk-yritykselle sekä varsinkin näin varhaisessa vaiheessa toimivalle organisaatiolle.Developing the level of information security in organizations is principally difficult, and it is good practice to use commonly known and used frameworks for the development of information security. The background for this research was settled during an internship period, where the idea emerged to map out the organization's information security in the R&D department in more detail. The task was to research the level of information security of the target organization in their R&D department according to the ISO 27001 framework. The aim was to create a current state analysis of the requirements regarding the information security management system, i.e. the ISO 27001 standard. Based on the current state analysis, one nonconformity was chosen for creation of a development proposal, which in this case included the development of information security training in the organization. The study was carried out as a qualitative research where information of organizational activities based on a previous research was gathered through open interviews. As a result, an overall level of assessment was created using a multi-level evaluation method to analyze whether the R&D department meets the ISO 27001 requirement. A proposal for a baseline regarding to information security training was developed, and for creating a training framework, a model and ways to monitor the performance of training were proposed. As a conclusion, the compliance with this kind of framework is a harsh method for a small and medium sized enterprise, and particularly for one operating in such an early-stage of its lifecycl

    Variations on the Author

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    “Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship

    Appropriate Similarity Measures for Author Cocitation Analysis

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    We 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

    Dispelling the Myths Behind First-author Citation Counts

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    We conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more sophisticated methods

    Author Index

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    koamabayili/VECTRON-author-checklist: VECTRON author checklist

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    We have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
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