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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
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“Arguments online, but in school we always act normal”: The embeddedness of early adolescent negative peer interactions within the whole of their offline and online peer interactionsOur aim was to study was to investigate how negative peer interactions on/offline are associated with each and with other daily interactions among adolescents.
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The COVID-19 Pandemic Affects Seasonality, With Increasing Cases of New-Onset Type 1 Diabetes in Children, From the Worldwide SWEET RegistryTo analyze whether the coronavirus disease 2019 (COVID-19) pandemic increased the number of cases or impacted seasonality of new-onset type 1 diabetes (T1D) in large pediatric diabetes centers globally.
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Assessing alexithymia across negative and positive emotions: Psychometric properties of the Polish version of the Perth Alexithymia QuestionnaireThe Perth Alexithymia Questionnaire (PAQ) is a 24-item self-report measure of alexithymia. Originally developed in English, it was designed to try to enable more comprehensive (i.e., facet-level and valence-specific) alexithymia assessments. This study aimed to introduce and validate a Polish version of the PAQ. Our sample were 1,008 people (69.44% females, 30.06% males and 0.50% non-binary) aged 18-78 (M = 29.69, SD = 14.15) from the general community.
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Gut Microbiome and Associated Metabolites Following Bariatric Surgery and Comparison to Healthy ControlsThe gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.
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Research
Defining the pediatric response to SARS-CoV-2 variantsThe global population has been severely affected by the coronavirus disease 2019 (COVID-19) pandemic, however, with older age identified as a risk factor, children have been underprioritized. This article discusses the factors contributing to the less severe response observed in children following infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), including, differing viral entry receptor expression and immune responses.
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Exploring the Experiences of Australian Fathers Who Lead School ‘Dads Groups’Past research suggests that fathers are underrepresented in traditional parenting and child health promotion programs compared to mothers. One promising method to deliver support is a peer-facilitated approach that enables fathers to connect with their peers. This model has been adopted by several community organisations in Australia. However, limited research evaluates the implementation and impact of these services.
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