78 research outputs found
Teleterveydenhuoltoa kansallisesti ja kansainvälisesti - ‐ yhteenveto XIV kansallisesta telelääketieteen ja eHealth‐seminaarista
Mental health in distance learning: a taxonomy of barriers and enablers to student mental wellbeing
Student mental health is a critical issue in higher education. It is understood that higher education can act to trigger or exacerbate mental health difficulties, but research in this area has focused primarily on campus environments, identifying stressors such as halls of residence. Since distance learning students disclose mental health issues at a higher rate than campus students, and completion and progression gaps are on a par with the sector, it is critical that the barriers and enablers to mental wellbeing in distance learning are understood. This paper reports on a qualitative study that investigated barriers and enablers to mental wellbeing and study success that students experienced in distance learning. 15 distance learning students and 5 tutors were interviewed using narrative enquiry; students told their own stories and tutors told stories of students they had supported. Barriers and enablers were identified across different aspects of study, skills-development and the distance learning environment, and are presented in a taxonomy of barriers and enablers that suggest a range of implications for distance learning educators and policy developers
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
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.
A rare loss-of-function allele p.Arg138* in SLC30A8 encoding the zinc transporter 8 (ZnT8), which is enriched in Western Finland, protects against type 2 diabetes (T2D). We recruited relatives of the identified carriers and showed that protection was associated with better insulin secretion due to enhanced glucose responsiveness and proinsulin conversion, particularly when compared with individuals matched for the genotype of a common T2D-risk allele in SLC30A8, p.Arg325. In genome-edited human induced pluripotent stem cell (iPSC)-derived β-like cells, we establish that the p.Arg138* allele results in reduced SLC30A8 expression due to haploinsufficiency. In human β cells, loss of SLC30A8 leads to increased glucose responsiveness and reduced KATP channel function similar to isolated islets from carriers of the T2D-protective allele p.Trp325. These data position ZnT8 as an appealing target for treatment aimed at maintaining insulin secretion capacity in T2D
Between the blabbering noise of individuals or the silent dialogue of many: a collective response to 'Postdigital Science and Education' (Jandrić et al. 2018)
This article is a multi-authored response to an editorial ‵Postdigital Science and Education′ published in 2018 by Petar Jandrić, Jeremy Knox, Tina Besley, Thomas Ryberg, Juha Suoranta and Sarah Hayes in Educational Philosophy and Theory as a mission statement for the journal Postdigital Science and Education. Nineteen authors were invited to produce their sections, followed by two author-reviewers who examined the article as a whole. Authors’ responses signal the sense of urgency for developing the concept of the postdigital and caution about attempts at simplifying complex relationships between human beings and technology. Whilst the digital indeed seems to become invisible, we simultaneously need to beware of its apparent absence and to avoid over-emphasizing its effects. In this attempt, authors offer a wide range of signposts for future research such as ‘the critical postdigital’ and ‘postdigital reflexivity’; they also warn about the group’s own shortcomings such as the lack of ‘real’ sense of collectivity. They emphasize that postdigital education must remain a common good, discuss its various negative aspects such as smartphone addiction and nomophobia, and exhibit some positive examples of postdigital educational praxis. They discuss various aspects of postdigital identities and point towards the need for a postdigital identity theory. With these varied and nuanced responses, the article opens a wide spectrum of opportunity for the development of postdigital approaches to science and education for the future
Dissolving the Dichotomies Between Online and Campus-Based Teaching: a Collective Response to The Manifesto for Teaching Online (Bayne et al. 2020)
This article is a collective response to the 2020 iteration of The Manifesto for Teaching Online. Originally published in 2011 as 20 simple but provocative statements, the aim was, and continues to be, to critically challenge the normalization of education as techno-corporate enterprise and the failure to properly account for digital methods in teaching in Higher Education. The 2020 Manifesto continues in the same critically provocative fashion, and, as the response collected here demonstrates, its publication could not be timelier. Though the Manifesto was written before the Covid-19 pandemic, many of the responses gathered here inevitably reflect on the experiences of moving to digital, distant, online teaching under unprecedented conditions. As these contributions reveal, the challenges were many and varied, ranging from the positive, breakthrough opportunities that digital learning offered to many students, including the disabled, to the problematic, such as poor digital networks and access, and simple digital poverty. Regardless of the nature of each response, taken together, what they show is that The Manifesto for Teaching Online offers welcome insights into and practical advice on how to teach online, and creatively confront the supremacy of face-to-face teaching
MRI texture analysis of subchondral bone at the tibial plateau
OBJECTIVES: To determine the feasibility of MRI texture analysis as a method of quantifying subchondral bone architecture in knee osteoarthritis (OA). METHODS: Asymptomatic subjects aged 20-30 (group 1, n = 10), symptomatic patients aged 40-50 (group 2, n = 10) and patients scheduled for knee replacement aged 55-85 (group 3, n = 10) underwent high spatial resolution T1-weighted coronal 3T knee MRI. Regions of interest were created in the medial (MT) and lateral (LT) tibial subchondral bone from which 20 texture parameters were calculated. T2 mapping of the tibial cartilage was performed in groups 1 and 2. Mean parameter values were compared between groups using ANOVA. Linear discriminant analysis (LDA) was used to evaluate the ability of texture analysis to classify subjects correctly. RESULTS: Significant differences in 18/20 and 12/20 subchondral bone texture parameters were demonstrated between groups at the MT and LT respectively. There was no significant difference in mean MT or LT cartilage T2 values between group 1 and group 2. LDA demonstrated subject classification accuracy of 97 % (95 % CI 91-100 %). CONCLUSION: MRI texture analysis of tibial subchondral bone may allow detection of alteration in subchondral bone architecture in OA. This has potential applications in understanding OA pathogenesis and assessing response to treatment. KEY POINTS: • Improved techniques to monitor OA disease progression and treatment response are desirable • Subchondral bone (SB) may play significant role in the development of OA • MRI texture analysis is a method of quantifying changes in SB architecture • Pilot study showed that this technique is feasible and reliable • Significant differences in SB texture were demonstrated between individuals with/without OA
Between the blabbering noise of individuals or the silent dialogue of many: a collective response to ‵Postdigital Science and Education′ (Jandrić et al. 2018)
This article is a multi-authored response to an editorial ‵Postdigital Science and Education′ published in 2018 by Petar Jandrić, Jeremy Knox, Tina Besley, Thomas Ryberg,
Juha Suoranta and Sarah Hayes in Educational Philosophy and Theory as a mission
statement for the journal Postdigital Science and Education. Nineteen authors were
invited to produce their sections, followed by two author-reviewers who examined the
article as a whole. Authors’ responses signal the sense of urgency for developing the
concept of the postdigital and caution about attempts at simplifying complex relationships between human beings and technology. Whilst the digital indeed seems to become
invisible, we simultaneously need to beware of its apparent absence and to avoid overemphasizing its effects. In this attempt, authors offer a wide range of signposts for future
research such as ‘the critical postdigital’ and ‘postdigital reflexivity’; they also warn
about the group’s own shortcomings such as the lack of ‘real’sense of collectivity. They
emphasize that postdigital education must remain a common good, discuss its various
negative aspects such as smartphone addiction and nomophobia, and exhibit some
positive examples of postdigital educational praxis. They discuss various aspects of
postdigital identities and point towards the need for a postdigital identity theory. With
these varied and nuanced responses, the article opens a wide spectrum of opportunity for
the development of postdigital approaches to science and education for the future
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