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- Inan-Eroglu, Elif, et al.
(författare)
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Comparison of a Thigh-Worn Accelerometer Algorithm With Diary Estimates of Time in Bed and Time Asleep: The 1970 British Cohort Study
- 2021
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Ingår i: Journal for the Measurement of Physical Behaviour. - : Human Kinetics. - 2575-6605 .- 2575-6613. ; 4:1, s. 60-67
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Tidskriftsartikel (refereegranskat)abstract
- Background: Thigh-worn accelerometers have established reliability and validity for measurement of free-living physical activity-related behaviors. However, comparisons of methods for measuring sleep and time in bed using the thigh-worn accelerometer are rare. The authors compared the thigh-worn accelerometer algorithm that estimates time in bed with the output of a sleep diary (time in bed and time asleep). Methods: Participants (N = 5,498), from the 1970 British Cohort Study, wore an activPAL device on their thigh continuously for 7 days and completed a sleep diary. Bland–Altman plots and Pearson correlation coefficients were used to examine associations between the algorithm derived and diary time in bed and asleep. Results: The algorithm estimated acceptable levels of agreement with time in bed when compared with diary time in bed (mean bias of −11.4 min; limits of agreement −264.6 to 241.8). The algorithm-derived time in bed overestimated diary sleep time (mean bias of 55.2 min; limits of agreement −204.5 to 314.8 min). Algorithm and sleep diary are reasonably correlated (ρ = .48, 95% confidence interval [.45, .52] for women and ρ = .51, 95% confidence interval [.47, .55] for men) and provide broadly comparable estimates of time in bed but not for sleep time. Conclusions: The algorithm showed acceptable estimates of time in bed compared with diary at the group level. However, about half of the participants were outside of the ±30 min difference of a clinically relevant limit at an individual level.
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| 2. |
- Ozantürk, Ayşegül, et al.
(författare)
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
- 2015
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Ingår i: International Journal of Human Genetics. - New York, USA : Nature Publishing Group. - 0972-3757 .- 1434-5161 .- 1435-232X. ; 60:1, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.
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| 3. |
- Poch, Christine M, et al.
(författare)
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Migratory and anti-fibrotic programmes define the regenerative potential of human cardiac progenitors
- 2022
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Ingår i: Nature Cell Biology. - Stockholm : Karolinska Institutet, Dept of Cell and Molecular Biology. - 1465-7392 .- 1476-4679.
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Tidskriftsartikel (refereegranskat)abstract
- Heart regeneration is an unmet clinical need, hampered by limited renewal of adult cardiomyocytes and fibrotic scarring. Pluripotent stem cell-based strategies are emerging, but unravelling cellular dynamics of host–graft crosstalk remains elusive. Here, by combining lineage tracing and single-cell transcriptomics in injured non-human primate heart biomimics, we uncover the coordinated action modes of human progenitor-mediated muscle repair. Chemoattraction via CXCL12/CXCR4 directs cellular migration to injury sites. Activated fibroblast repulsion targets fibrosis by SLIT2/ROBO1 guidance in organizing cytoskeletal dynamics. Ultimately, differentiation and electromechanical integration lead to functional restoration of damaged heart muscle. In vivo transplantation into acutely and chronically injured porcine hearts illustrated CXCR4-dependent homing, de novo formation of heart muscle, scar-volume reduction and prevention of heart failure progression. Concurrent endothelial differentiation contributed to graft neovascularization. Our study demonstrates that inherent developmental programmes within cardiac progenitors are sequentially activated in disease, enabling the cells to sense and counteract acute and chronic injury.
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