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- Jorholt, J, et al.
(författare)
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Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants
- 2020
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 11:10
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Tidskriftsartikel (refereegranskat)abstract
- Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in ALPK3. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole exome sequencing. The patients showed a large difference in the age of onset, and both presented with extracardiac features that are often seen in ALPK3 patients. The patient with the later onset showed milder extracardiac symptoms, such as decreased muscle tone and distal muscular dystrophy, but had fast progression of cardiac complications leading to the need of heart transplantation. This study further elucidates the variability of both symptoms and age of onset among these patients.
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- Lee, Eun-Young, et al.
(författare)
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Play, Learn, and Teach Outdoors—Network (PLaTO-Net) : terminology, taxonomy, and ontology
- 2022
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Ingår i: International Journal of Behavioral Nutrition and Physical Activity. - : BioMed Central (BMC). - 1479-5868. ; 19:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: A recent dialogue in the field of play, learn, and teach outdoors (referred to as “PLaTO” hereafter) demonstrated the need for developing harmonized and consensus-based terminology, taxonomy, and ontology for PLaTO. This is important as the field evolves and diversifies in its approaches, contents, and contexts over time and in different countries, cultures, and settings. Within this paper, we report the systematic and iterative processes undertaken to achieve this objective, which has built on the creation of the global PLaTO-Network (PLaTO-Net). Methods: This project comprised of four major methodological phases. First, a systematic scoping review was conducted to identify common terms and definitions used pertaining to PLaTO. Second, based on the results of the scoping review, a draft set of key terms, taxonomy, and ontology were developed, and shared with PLaTO members, who provided feedback via four rounds of consultation. Third, PLaTO terminology, taxonomy, and ontology were then finalized based on the feedback received from 50 international PLaTO member participants who responded to ≥ 3 rounds of the consultation survey and dialogue. Finally, efforts to share and disseminate project outcomes were made through different online platforms. Results: This paper presents the final definitions and taxonomy of 31 PLaTO terms along with the PLaTO-Net ontology model. The model incorporates other relevant concepts in recognition that all the aspects of the model are interrelated and interconnected. The final terminology, taxonomy, and ontology are intended to be applicable to, and relevant for, all people encompassing various identities (e.g., age, gender, culture, ethnicity, ability). Conclusions: This project contributes to advancing PLaTO-based research and facilitating intersectoral and interdisciplinary collaboration, with the long-term goal of fostering and strengthening PLaTO’s synergistic linkages with healthy living, environmental stewardship, climate action, and planetary health agendas. Notably, PLaTO terminology, taxonomy and ontology will continue to evolve, and PLaTO-Net is committed to advancing and periodically updating harmonized knowledge and understanding in the vast and interrelated areas of PLaTO.
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- Aubert, S, et al.
(författare)
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Global Matrix 4.0 Physical Activity Report Card Grades for Children and Adolescents: Results and Analyses From 57 Countries
- 2022
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Ingår i: Journal of physical activity & health. - : Human Kinetics. - 1543-5474 .- 1543-3080. ; 19:11, s. 700-728
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Tidskriftsartikel (refereegranskat)abstract
- Background: The Global Matrix 4.0 on physical activity (PA) for children and adolescents was developed to achieve a comprehensive understanding of the global variation in children’s and adolescents’ (5–17 y) PA, related measures, and key sources of influence. The objectives of this article were (1) to summarize the findings from the Global Matrix 4.0 Report Cards, (2) to compare indicators across countries, and (3) to explore trends related to the Human Development Index and geo-cultural regions. Methods: A total of 57 Report Card teams followed a harmonized process to grade the 10 common PA indicators. An online survey was conducted to collect Report Card Leaders’ top 3 priorities for each PA indicator and their opinions on how the COVID-19 pandemic impacted child and adolescent PA indicators in their country. Results: Overall Physical Activity was the indicator with the lowest global average grade (D), while School and Community and Environment were the indicators with the highest global average grade (C+). An overview of the global situation in terms of surveillance and prevalence is provided for all 10 common PA indicators, followed by priorities and examples to support the development of strategies and policies internationally. Conclusions: The Global Matrix 4.0 represents the largest compilation of children’s and adolescents’ PA indicators to date. While variation in data sources informing the grades across countries was observed, this initiative highlighted low PA levels in children and adolescents globally. Measures to contain the COVID-19 pandemic, local/international conflicts, climate change, and economic change threaten to worsen this situation.
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- Wolska, A., et al.
(författare)
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XANES studies of Mn K and L-3,L-2 edges in the (Ga,Mn) As layers modified by high temperature annealing
- 2008
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Ingår i: Acta Physica Polonica. A. - 0587-4246 .- 1898-794X. ; 114:2, s. 357-366
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Tidskriftsartikel (refereegranskat)abstract
- Ga1-xMnx As is commonly considered as a promising material for microelectronic applications utilizing the electron spin. One of the ways that allow increasing the Curie temperature above room temperature is to produce second phase inclusions. In this paper Gal-,Mn.As samples containing precipitations of ferromagnetic MnAs are under consideration. We focus on the atomic and electronic structure around the Mn atoms relating to the cluster formation. The changes in the electronic structure of the Mn, Ga and As atoms in the (Ga,Mn)As layers after high temperature annealing were determined by X-ray absorption near edge spectroscopy. The experimental spectra were compared with the predictions of ab initio full multiple scattering theory using the FEFF 8.4 code. The nominal concentration of the Mn atoms in the investigated samples was 6% and 8%. We do not observe changes in the electronic structure of Ca and As introduced by the presence of the Mn atoms. We find, in contrast, considerable changes in the electronic structure around the Mn atoms. Moreover, for the first time it was possible to indicate the preferred interstitial positions of the Mn atoms.
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