Professional educators in the Circumpolar North: A model for the digital competence of future teachers

This article is based on a study that considers future teachers’ digital competencies in the Arctic education context with special attention to the necessary cultural and contextual dimensions of teachers’ work. This study explored the professional competencies teachers require when teaching diverse and multicultural pupils in the Circumpolar North drawing on the multiple affordances offered by the digital world. Previous research draws attention to specific teaching and teacher competencies required for rural schools in the Circumpolar North considering the unique assets and characteristics of rural places in this region. This study presents a model of Digital Competence for Future Teachers (DCFT) that illustrates the competencies required by teachers in rural schools in the Arctic. Within the proposed model, four types of digital knowledge-based competencies necessary for holistic education were identified: techno-cultural, intercultural, self-cultural, and micro-cultural. The model was created through a process of analysis of existing models of teachers’ digital competencies: MAP-, TPACK- and PEAT-models which are then reflected on the findings of an earlier international comparative multiple-case study by the same authors examining the sudden change to remote online teaching during the COVID-19 pandemic, and the Cultural Competence for Equity and Inclusion (CCEI) framework. Although the presented study focused on the Circumpolar North, the findings have implications for teacher education and policy production more widely in national and international educational environments

Mutation analysis of the ATR gene in breast and ovarian cancer families

INTRODUCTION: Mutations in BRCA1, BRCA2, ATM, TP53, CHK2 and PTEN account for only 20–30% of the familial aggregation of breast cancer, which suggests the involvement of additional susceptibility genes. The ATR (ataxia-telangiectasia- and Rad3-related) kinase is essential for the maintenance of genomic integrity. It functions both in parallel and cooperatively with ATM, but whereas ATM is primarily activated by DNA double-strand breaks induced by ionizing radiation, ATR has been shown to respond to a much broader range of DNA damage. Upon activation, ATR phosphorylates several important tumor suppressors, including p53, BRCA1 and CHK1. Based on its central function in the DNA damage response, ATR is a plausible candidate gene for susceptibility to cancer. METHODS: We screened the entire coding region of the ATR gene for mutations in affected index cases from 126 Finnish families with breast and/or ovarian cancer, 75 of which were classified as high-risk and 51 as moderate-risk families, by using conformation sensitive gel electrophoresis and direct sequencing. RESULTS: A large number of novel sequence variants were identified, four of which – Glu254Gly, Ser1142Gly, IVS24-48G>A and IVS26+15C>T – were absent from the tested control individuals (n = 300). However, the segregation of these mutations with the cancer phenotype could not be confirmed, partly because of the lack of suitable DNA samples. CONCLUSION: The present study does not support a major role for ATR mutations in hereditary susceptibility to breast and ovarian cancer

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1-41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated families with intellectual disability (ID) and a novel pathogenic SMG9 c.551 T > C p.(Val184Ala) homozygous missense variant, identified using exome sequencing. Sanger sequencing confirmed recessive segregation in each family. SMG9 c.551T > C p.(Val184Ala) is most likely an autozygous variant identical by descent. Characteristic clinical findings in patients were mild to moderate ID, intention tremor, pyramidal signs, dyspraxia, and ocular manifestations. We used RNA sequencing of patients and age- and sex-matched healthy controls to assess the effect of the variant. RNA sequencing revealed that the SMG9 c.551T > C variant did not affect the splicing or expression level of SMG9 gene products, and allele-specific expression analysis did not provide evidence that the nonsense mRNA-induced NMD was affected. Differential gene expression analysis identified prevalent upregulation of genes in patients, including the genes SMOX, OSBP2, GPX3, and ZNF155. These findings suggest that normal SMG9 function may be involved in transcriptional regulation without affecting nonsense mRNA-induced NMD. In conclusion, we demonstrate that the SMG9 c.551T > C missense variant causes a neurodevelopmental disorder and impacts gene expression. NMD components have roles beyond aberrant mRNA degradation that are crucial for neurocognitive development

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Prolyl 3-hydroxylase 1 (P3H1), encoded by the LEPRE1 gene, forms a molecular complex with cartilage-associated protein (CRTAP) and cyclophilin B (encoded by PPIB) in the endoplasmic reticulum (ER). This complex is responsible for one step in collagen post-translational modification, the prolyl 3-hydroxylation of specific proline residues, specifically α1(I) Pro986. P3H1 provides the enzymatic activity of the complex and has a Lys-Asp-Glu-Leu (KDEL) ER-retrieval sequence at the carboxyl terminus. Loss of function mutations in LEPRE1 lead to the Pro986 residue remaining unmodified and lead to slow folding and excessive helical post-translational modification of type I collagen, which is seen in both dominant and recessive osteogenesis imperfecta (OI). Here, we present the case of siblings with non-lethal OI due to novel compound heterozygous mutations in LEPRE1 (c.484delG and c.2155dupC). The results of RNA analysis and real-time PCR suggest that mRNA with c.2155dupC escapes from nonsense-mediated RNA decay. Without the KDEL ER- retrieval sequence, the product of the c.2155dupC variant cannot be retained in the ER. This is the first report of a mutation in LEPRE1 that eliminates only the KDEL ER-retrieval sequence, whereas other functional domains remain intact. Our study shows, for the first time, that the KDEL ER- retrieval sequence is essential for P3H1 functionality and that a defect in KDEL is sufficient for disease onset

On the analysis of ink content in recycled pulps

Abstract The amount of printing ink in a pulp suspension produced from recovered paper and its impact on overall brightness is commonly estimated from the reflectance-based ink content measured at a wavelength of 700 nm or 950 nm. The method uses a light scattering coefficient that can be measured from a slightly translucent test medium, i.e. of an opacity less than 97%. This is the case with machine-made papers in most instances. Alternatively, suitable opacity can be achieved by preparing a standard low-grammage sheet on a wire screen, but this results in poor retention of fibre fines, mineral fillers and printing inks, which is especially detrimental to ink measurement when the pulp suspension contains substantial amounts of printing inks. Hence opaque pads are often prepared on filter paper to achieve high retention. Unfortunately their high opacity prevents measurement of the light scattering coefficient, and thus a constant coefficient must be used for the determination of ink content. The aim of this thesis was to clarify the effects of retention and fine material changes on the light scattering coefficient in ink content measurement. The results showed that the light scattering properties of pulp in the wavelength region used for ink content analysis do not remain constant when the fine material content varies. The grade of the recovered paper, hyperwashing and flotation alter the fine material content and thus affect the light scattering. Printing ink also affects light scattering, but its practical impact is smaller than that of fibre fines and mineral fillers. The light scattering coefficient used for each ink content measurement needs to be representative, otherwise a systematic bias in ink content measurements may result from changes in the nature of the fine material and in its content. It is recommended that the light scattering coefficient should be measured in order to avoid this. The measurement should preferably be performed from a low-grammage sheet prepared on filter paper, as this ensures high retention and a measured value that represents better the initial state of the pulp suspension.Tiivistelmä Mustepitoisuusmittaus perustuu hajaheijastukseen joko 700 nm tai 950 nm aallonpituudella ja sitä käytetään usein arvioitaessa keräyspaperista valmistetun massasuspension soveltuvuutta painopaperien valmistukseen ja painomusteen vaikutusta massan vaaleuteen. Mustepitoisuuden mittauksessa käytetään valonsirontakerrointa, joka voidaan mitata hieman läpikuultavasta näytteestä eli näytteen opasiteetin on oltava pienempi kuin 97 %. Tämä opasiteettiraja toteutuu useimmiten paperikoneella tehdyille painotuotteille. Riittävän alhainen opasiteetti saavutetaan myös valmistamalla standardin mukainen matalaneliömassainen arkki viiralle, mutta tämä johtaa kuitumaisten hienoaineiden, mineraalisten täyteaineiden ja painomusteiden alhaiseen retentioon. Matala retentio on erityisen haitallinen piirre mustemittauksen kannalta massoilla, jotka sisältävät huomattavia määriä painomusteita. Siten usein valmistetaan läpikuultamattomia arkkeja suodatinpaperin päälle, joiden retentio on korkea. Korkeasta opasiteetista johtuen näistä arkeista ei voida määrittää valonsirontakerrointa, jolloin mustepitoisuuden määritys perustuu vakiokertoimeen. Tämän väitöskirjan tavoitteena oli selvittää retention ja hienoaineiden muutoksien vaikutuksia valonsirontakertoimeen ja mustemittaustulokseen. Tutkimuksen tulokset osoittivat että valonsirontakerroin, joka mitataan mustepitoisuuden yhteydessä, ei pysy vakiona hienoainepitoisuuden muuttuessa. Hienoainepitoisuuteen ja siten valonsirontakertoimeen vaikuttavat keräyspaperin laji, hyperpesu ja vaahdotus. Myös painomuste vaikuttaa valonsirontakertoimeen, mutta käytännössä vaikutuksen suurusluokka on pienempi kuin hieno- ja täyteaineilla. Mustepitoisuuden määrityksessä käytetyn valonsirontakertoimen on oltava edustava, muutoin arvot voivat olla systemaattisesti virheellisiä hienoainemäärän tai laadun muuttuessa. Virheen välttämiseksi olisi suositeltavaa määrittää valonsirontakerroin mustepitoisuusanalyysin yhteydessä. Tämä olisi mahdollista tehdä suodatinpaperin päälle valmistetusta matalaneliömassaisesta arkista, jolloin saavutetaan korkea retentio ja näin mitattu arvo edustaa paremmin massasuspension alkuperäistä tilaa

Itsenäinen osaamisalue vai kaikkien taitojen äiti:reflektiivisyyden merkitys opettajan osaamiselle

Abstrakti Reflektio on keskeinen opettajan oppimisen edesauttaja. Tämän tutkimuksen lähtökohtana on havaintomme, että opettajankoulutuksessa reflektiota tarkastellaan usein pelkkänä ammatillisen kehittymisen välineenä, jonka avulla opettaja kehittää työtään ja itseään opettajana. Määritelmä ei kuitenkaan anna tarkkaa kuvaa siitä, kuinka reflektio kytkeytyy opettajan laaja-alaiseen osaamiseen ja miten reflektiotaito kehittyy osana osaamista. Artikkelissamme käsittelemme reflektiivisyyttä tarkastelemalla moniulotteista opettajan osaamisen prosessimallia (MAP). Tavoitteena on tutkia reflektion suhdetta MAP-mallin opettajan osaamisalueisiin. Analyysissa tarkastelemme MAP-mallin perustana olevaa kirjallisuutta kahden reflektiomallin näkökulmasta: Mezirowin transformatiivisen oppimisen teorian sekä Korthagenin holistisen lähestymistavan. Tutkimustulostemme mukaan reflektio kytkeytyy opettajan kaikkiin osaamisalueisiin tilannesidonnaisten taitojen (havaitseminen, tulkinta, päätöksenteko) sekä ammatillisten käytäntöjen kautta. Havaitsimme myös, että analysoimamme aineiston reflektiokuvauksista puuttui lähes kokonaan Mezirowin kriittisen reflektion taso, mutta Korthagenin malli oli aineistossa laajasti edustettuna. Tulkintamme mukaan reflektio voidaan ymmärtää itsenäisenä osaamisalueena, jonka kehittymistä tulee tukea. Tutkimus ottaa kantaa, mitä tämä tarkoittaa MAP-mallin ja opettajankoulutuksen kehittämisen kannalta

Authentic assessment as a support for student teachers’ reflection

Abstract Assessment and feedback guide learning. In light of this, the assessment practices of teacher education have received little research. This qualitative study examines student teachers’ discussions in a study unit built on authentic assessment practices: self- and peer assessment of videotapes from authentic performance with research-based rubrics. The aim is to investigate whether authentic assessment supports student teachers’ reflection and, if so, how. The findings show that authentic assessment led students frequently to reflection, and in most cases reflective discussions were induced by students’ self-criticism. We deduced that the encouraging feedback culture between students and between students and the teacher enabled students to be open about their self-critical observations. According to the findings, building a study unit on authentic assessment is a promising way to guide students to reflect on theory and practice and to learn skills that are essential for their future profession