276557 research outputs found
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Investigating innovative techniques to advance the diagnosis and management of pediatric respiratory tract infections
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313481.pdf (Publisher’s version ) (Open Access)Radboud University, 10 januari 2025Promotores : Jonge, M.I. de, Groot, R. de, Dompeling, E. Co-promotor : Flier, M. van der133 p
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.
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315920.pdf (Publisher’s version ) (Closed access)We report a child with biallelic COQ6 variants presenting with familial thrombotic microangiopathy (TMA). A Chinese boy presented with steroid-resistant nephrotic syndrome at 8 months old and went into kidney failure requiring peritoneal dialysis at 15 months old. He presented with hypertensive encephalopathy with the triad of microangiopathic haemolytic anaemia, thrombocytopenia, and acute on chronic kidney injury at 25 months old following a viral illness. Kidney biopsy showed features of chronic TMA. He was managed with supportive therapy and plasma exchanges and maintained on eculizumab. However, he had another TMA relapse despite complement inhibition a year later. Eculizumab was withdrawn, and supportive therapies, including ubiquinol (50 mg/kg/day) and vitamins, were optimized. He remained relapse-free since then for 4 years. Of note, his elder sister succumbed to multiple organ failure with histological evidence of chronic TMA at the age of 4. Retrospective genetic analysis revealed the same compound heterozygous variants in the COQ6 gene.01 februari 202
Gesture screening in young infants: Highly sensitive to risk factors for communication delay
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317123.pdf (Publisher’s version ) (Open Access)Introduction: Children's early language and communication skills are efficiently measured using parent report, for example, communicative development inventories (CDIs). These have scalable potential to determine risk of later language delay, and associations between delay and risk factors such as prematurity and poverty. However, there may be measurement difficulties in parent reports, including anomalous directions of association between child age/socioeconomic status and reported language. Findings vary on whether parents may report older infants as having smaller vocabularies than younger infants, for example. Methods: We analysed data from the UK Communicative Development Inventory (Words and Gestures); UK-CDI (W&G) to determine whether anomalous associations would be replicated in this population, and/or with gesture. In total 1204 families of children aged 8-18 months (598 girls, matched to UK population for income, parental education and ethnicity as far as possible) completed Vocabulary and Gesture scales of the UK-CDI (W&G). Results: Overall scores on the Gesture scale showed more significant relationships with biological risk factors including prematurity than did Vocabulary scores. Gesture also showed more straightforward relationships with social risk factors including income. Relationships between vocabulary and social risk factors were less straightforward; some at-risk groups reported higher vocabulary scores than other groups. Discussion: We conclude that vocabulary report may be less accurate than gesture for this age. Parents have greater knowledge of language than gesture milestones, hence may report expectations for vocabulary, not observed vocabulary. We also conclude that gesture should be included in early language scales partly because of its greater, more straightforward association with many risk factors for language delay.22 p
The effects of special educational needs and socioeconomic status on teachers' and parents' judgements of pupils' cognitive abilities
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311084.pdf (Publisher’s version ) (Open Access)Background: Teachers' and parents' judgements of pupils' cognitive abilities influence pupils' daily learning opportunities and experiences, as these judgements affect the difficulty level of materials and instruction that teachers and parents provide. Over time, these judgements thus significantly shape educational success. However, pupils' characteristics, such as special educational needs (SEN), giftedness and socioeconomic status (SES) can influence and bias judgement accuracy. Aims: The present study aimed to investigate the relation between pupils' cognitive abilities and their teachers' and parents' judgements of these abilities, and potential bias in these judgements related to SEN, giftedness, and SES. Sample: The sample consisted of 1073 primary school pupils from grades 4-6 from 77 classes in 16 schools, and their teachers and parents. Methods: Teachers and parents rated their pupils' cognitive abilities. Pupils completed the COVAT-3, a cognitive ability test. Results: Multilevel analyses revealed that parent judgements were significantly higher than teacher judgements, but both informants' judgements were equally strong related to the cognitive ability scores. When controlling for pupils' assessed cognitive abilities, the results revealed small judgement biases: negative for SEN, positive for giftedness, and finally positive for high SES, but only in teachers. Conclusions: Overall, the results indicated that teachers and parents can judge their pupils abilities to a moderate degree, but they also hold judgement biases related to SEN, giftedness and SES. As these biases can affect pupils' opportunities, it is important to increase teachers' and parents' awareness.23 p
Impact of COVID-19 disease and vaccination on dermatological immune-mediated inflammatory diseases atopic dermatitis, psoriasis, and vitiligo: a Target2B! substudy
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318292.pdf (Publisher’s version ) (Open Access
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
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318221.pdf (Publisher’s version ) (Open Access)Haploinsufficiency of CACNA1A, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia to neurodevelopmental syndromes with epilepsy and intellectual disability. To understand the pathological mechanisms of CACNA1A loss-of-function variants, we characterized a human neuronal model for CACNA1A haploinsufficiency by differentiating isogenic induced pluripotent stem cell lines into glutamatergic neurons and investigated the effect of CACNA1A haploinsufficiency on mature neuronal networks through a combination of electrophysiology, gene expression analysis and in silico modelling. We observed an altered network synchronization in CACNA1A+/- networks alongside synaptic deficits, notably marked by an augmented contribution of GluA2 subunit-lacking α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors. Intriguingly, these synaptic perturbations coexisted with increased non-synaptically driven activity, as characterized by inhibition of N-methyl-D-aspartate and AMPA receptors on micro-electrode arrays. Single-cell electrophysiology and gene expression analysis corroborated this increased intrinsic excitability through reduced potassium channel function and expression. Moreover, we observed partial mitigation of the CACNA1A+/- network phenotype by 4-aminopyridine, a therapeutic intervention for episodic ataxia type 2. Positive modulation of small conductance calcium-activated potassium channels could reverse the CACNA1A+/- network electrophysiological phenotype. In summary, our study pioneers the characterization of a human induced pluripotent stem cell-derived neuronal model for CACNA1A haploinsufficiency and has unveiled new mechanistic insights. Beyond showcasing synaptic deficits, this neuronal model exhibited increased intrinsic excitability mediated by diminished potassium channel function, underscoring its potential as a therapeutic discovery platform with predictive validity
Making Pathologists Ready for the New Artificial Intelligence Era: Changes in Required Competencies.
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317000.pdf (Publisher’s version ) (Open Access)In recent years, there has been an increasing interest in developing and using artificial intelligence (AI) models in pathology. Although pathologists generally have a positive attitude toward AI, they report a lack of knowledge and skills regarding how to use it in practice. Furthermore, it remains unclear what skills pathologists would require to use AI adequately and responsibly. However, adequate training of (future) pathologists is essential for successful AI use in pathology. In this paper, we assess which entrustable professional activities (EPAs) and associated competencies pathologists should acquire in order to use AI in their daily practice. We make use of the available academic literature, including literature in radiology, another image-based discipline, which is currently more advanced in terms of AI development and implementation. Although microscopy evaluation and reporting could be transferrable to AI in the future, most of the current pathologist EPAs and competencies will likely remain relevant when using AI techniques and interpreting and communicating results for individual patient cases. In addition, new competencies related to technology evaluation and implementation will likely be necessary, along with knowing one's own strengths and limitations in human-AI interactions. Because current EPAs do not sufficiently address the need to train pathologists in developing expertise related to technology evaluation and implementation, we propose a new EPA to enable pathology training programs to make pathologists fit for the new AI era "using AI in diagnostic pathology practice" and outline its associated competencies.01 februari 202
Becoming literate in Dutch-English bilingual education
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317659.pdf (Publisher’s version ) (Open Access)Radboud University, 07 mei 2025Promotores : Segers, P.C.J., Verhoeven, L.T.W. Co-promotor : Droop, W.111 p
Dataset risk management as practice
No full textItem does not contain fulltextData set research thesis Risk management as practic
Muslims on the margins: Creating queer religious community in North America
No full textItem does not contain fulltextK.D. Thompson Muslims on the margins: Creating queer religious community in North America New York:New York University Press ,2023 978147981435