| 1. |
- Cooray, S., et al.
(författare)
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Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)
- 2021
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Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 60:9, s. 4373-4378
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Tidskriftsartikel (refereegranskat)abstract
- Objective To evaluate the impact of anti-Tumour Necrosis Factor-alpha (anti-TNF) treatment on the occurrence of vasculitic ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Methods A retrospective analysis of DADA2 patients referred from six centres to Great Ormond Street Hospital for Children was conducted. Ischaemic events, vasculitic disease activity, biochemical, immunological, and radiological features were compared, before and after anti-TNF treatment. Results A total of 31 patients with genetically confirmed DADA2 were included in the study. The median duration of active disease activity prior to anti-TNF treatment was 73months (inter-quartile range [IQR] 27.5-133.5months). Twenty seven/31 patients received anti-TNF treatment for a median of 32months (IQR 12.0-71.5months). The median event rate of central nervous system (CNS) and non-CNS ischemic events before anti-TNF treatment was 2.37 per 100 patient-months (IQR 1.25-3.63); compared with 0.00 per 100 patient-months (IQR 0.0-0.0) post-treatment (p< 0.0001). Paediatric vasculitis activity score (PVAS) was also significantly reduced: median score of 20/63 (IQR 13.0-25.8/63) pre-treatment vs. 2/63 (IQR 0.0-3.8/63) following anti-TNF treatment (p< 0.0001), with mild livedoid rash being the main persisting feature. Anti-TNF treatment was not effective for severe immunodeficiency or bone marrow failure, which required haematopoietic stem cell transplantation (HSCT). Conclusion Anti-TNF treatment significantly reduced the incidence of ischaemic events and other vasculitic manifestations of DADA2, but was not effective for immunodeficiency or bone marrow failure.
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| 2. |
- Håkansson, Gisela, et al.
(författare)
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A case study of a quadrilingual child : The influence of exposure and cognates when developing multiple languages
- 2021
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Ingår i: Language Impairment in Multilingual Settings. - Amsterdam : John Benjamins Publishing Company. ; 29, s. 78-97
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Bokkapitel (refereegranskat)abstract
- This paper reports on a case study of a quadrilingual child, Stefan, born and raised in Sweden and exposed to four languages before his first birthday: English, French, Russian and Swedish. We examine his vocabularies in these languages by the Cross-Linguistic Lexical Tasks (Haman, Łuniewska, & Pomiechowska, 2015), designed to measure vocabulary in monolingual and multilingual children. Stefan’s scores on comprehension and production reveal proficiency in all his languages, to varying degrees, and with comprehension exceeding production. While highlighting direct and indirect exposure as explanation for the variation in proficiency, we also discuss cognate vocabulary as an important factor for multilingual language development. In the production tasks, Stefan demonstrates not only vocabulary knowledge but also language-specific use of morphosyntax.
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| 3. |
- Lakhanpaul, Monica, et al.
(författare)
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An evidence-based guideline for children presenting with acute breathing difficulty
- 2009
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Ingår i: Emergency Medicine Journal. - : BMJ. - 1472-0205 .- 1472-0213. ; 26:12, s. 850-853
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Tidskriftsartikel (refereegranskat)abstract
- We have developed an evidence-based guideline that has subsequently been successfully implemented in the paediatric emergency departments and disseminated nationally. Results showing the effect of the guideline upon practice will be published separately.
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