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- Ash, G. I., et al.
(författare)
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Establishing a Global Standard for Wearable Devices in Sport and Exercise Medicine: Perspectives from Academic and Industry Stakeholders
- 2021
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Ingår i: Sports Medicine. - : Springer Science and Business Media LLC. - 0112-1642 .- 1179-2035. ; 51, s. 2237-2250
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Tidskriftsartikel (refereegranskat)abstract
- Millions of consumer sport and fitness wearables (CSFWs) are used worldwide, and millions of datapoints are generated by each device. Moreover, these numbers are rapidly growing, and they contain a heterogeneity of devices, data types, and contexts for data collection. Companies and consumers would benefit from guiding standards on device quality and data formats. To address this growing need, we convened a virtual panel of industry and academic stakeholders, and this manuscript summarizes the outcomes of the discussion. Our objectives were to identify (1) key facilitators of and barriers to participation by CSFW manufacturers in guiding standards and (2) stakeholder priorities. The venues were the Yale Center for Biomedical Data Science Digital Health Monthly Seminar Series (62 participants) and the New England Chapter of the American College of Sports Medicine Annual Meeting (59 participants). In the discussion, stakeholders outlined both facilitators of (e.g., commercial return on investment in device quality, lucrative research partnerships, and transparent and multilevel evaluation of device quality) and barriers (e.g., competitive advantage conflict, lack of flexibility in previously developed devices) to participation in guiding standards. There was general agreement to adopt Keadle et al.'s standard pathway for testing devices (i.e., benchtop, laboratory, field-based, implementation) without consensus on the prioritization of these steps. Overall, there was enthusiasm not to add prescriptive or regulatory steps, but instead create a networking hub that connects companies to consumers and researchers for flexible guidance navigating the heterogeneity, multi-tiered development, dynamicity, and nebulousness of the CSFW field.
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- Lanzafame, A. C., et al.
(författare)
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Gaia Data Release 3 : Stellar chromospheric activity and mass accretion from Ca II IRT observed by the Radial Velocity Spectrometer
- 2023
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 674
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Tidskriftsartikel (refereegranskat)abstract
- Context: The Gaia Radial Velocity Spectrometer (RVS) provides the unique opportunity of a spectroscopic analysis of millions of stars at medium resolution (lambda/Delta lambda similar to 11 500) in the near-infrared (845 872 nm). This wavelength range includes the Ca ii infrared triplet (IRT) at 850.03, 854.44, and 866.45 nm, which is a good indicator of magnetic activity in the chromosphere of late-type stars.Aims: Here we present the method devised for inferring the Gaia stellar activity index from the analysis of the Ca ii IRT in the RVS spectrum, together with its scientific validation.Methods: The Gaia stellar activity index is derived from the Ca ii IRT excess equivalent width with respect to a reference spectrum, taking the projected rotational velocity (v sin i) into account. We performed scientific validation of the Gaia stellar activity index by deriving a R'(IRT) index, which is largely independent of the photospheric parameters, and considering the correlation with the R'(HK) index for a sample of stars. A sample of well-studied pre-main-sequence (PMS) stars is considered to identify the regime in which the Gaia stellar activity index may be a ffected by mass accretion. The position of these stars in the colour-magnitude diagram and the correlation with the amplitude of the photometric rotational modulation is also scrutinised.Results: Gaia DR3 contains a stellar activity index derived from the Ca ii IRT for some 2 x 10(6) stars in the Galaxy. This represents a `gold mine' for studies on stellar magnetic activity and mass accretion in the solar vicinity. Three regimes of the chromospheric stellar activity are identified, confirming suggestions made by previous authors based on much smaller R-HK(') datasets. The highest stellar activity regime is associated with PMS stars and RS CVn systems, in which activity is enhanced by tidal interaction. Some evidence of a bimodal distribution in main sequence (MS) stars with T-eff >= 5000K is also found, which defines the two other regimes, without a clear gap in between. Stars with 3500K. T-e ff <= 5000K are found to be either very active PMS stars or active MS stars with a unimodal distribution in chromospheric activity. A dramatic change in the activity distribution is found for T-e ff <= 3500 K, with a dominance of low activity stars close to the transition between partially- and fully convective stars and a rise in activity down into the fully convective regime.
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- Fergelot, Patricia, et al.
(författare)
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
- 2016
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 170:12, s. 3069-3082
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Tidskriftsartikel (refereegranskat)abstract
- Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients. We compare the data to 308 individuals with CREBBP mutations. We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella. The limb anomalies are more similar to those in CREBBP mutated individuals except for angulation of thumbs and halluces which is very uncommon in EP300 mutated individuals. The intellectual disability is variable but typically less marked whereas the microcephaly is more common. All types of mutations occur but truncating mutations and small rearrangements are most common (86%). Missense mutations in the HAT domain are associated with a classical RSTS phenotype but otherwise no genotype–phenotype correlation is detected. Pre-eclampsia occurs in 12/52 mothers of EP300 mutated individuals versus in 2/59 mothers of CREBBP mutated individuals, making pregnancy with an EP300 mutated fetus the strongest known predictor for pre-eclampsia.
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- Freud, Lindsay R., et al.
(författare)
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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
- 2024
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Ingår i: American Journal of Obstetrics and Gynecology. - 0002-9378 .- 1097-6868. ; 230:3
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Tidskriftsartikel (refereegranskat)abstract
- Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. Objective: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Study Design: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. Results: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56–11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69–0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06–0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03–0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36–0.91; P=.019). Conclusion: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.
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- Tonda, R., et al.
(författare)
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Potential Utilization of Dried Rice Leftover of Household Organic Waste for Poultry Functional Feed
- 2022
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Ingår i: Jordan Journal of Biological Sciences. - : Hashemite University. - 1995-6673 .- 2307-7166. ; 15:5, s. 879-886
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Tidskriftsartikel (refereegranskat)abstract
- Indonesia produced 30 × 106 t of waste in 2021; 40 % was organic and 276 × 103 t leftover rice. Meanwhile, broiler chicken farmers have been struggling with high feed costs to continue their production. Processing leftover rice into "aking-rice" is environmentally friendly, and it also provides alternative feed for chickens. "Aking-rice" is a type of resistant starch because it has undergone a gelatinization process that works as a synthesis of short-chain fatty acids that positively improve the function of the digestive tract because it increases the villi in the small intestine. This study analyzed the potential of “akingrice” in broiler chicken productivity. The experimental method was a completely randomized design with three treatments, five replications and 12 chickens in each unit. The treatments are T0 (100 % basal feed), T1 (80 % basal feed + 20 % “akingrice” spread on top of the basal feed), and T2 (80 % basal feed + 20 % "aking-rice" mix). Statistical analysis used ANOVA, and continued with LSD with observed variables, i.e. Feed Intake (FI), Average Daily Gain (ADG), Feed Conversion Ratio (FCR), and Performance Index (PI). The results showed that the highest FI values were T0 (99.02), T1 (97.45), and T2 (96.58). The highest ADG was T1 (40.40) then T0 (37.07) and the lowest was T2 (36.40). T1 has the lowest FCR (2.42) compared to T0 (2.68), T2 (2.66). The lowest FCR is T1 (2.42), then T2 (2.66) and the highest is T0 (2.68). The third variable was not significantly different, but the PI results showed a significant difference with the highest PI value T1 (433.84), while T0 (374.81) and T2 (372.67) were not different. Economic analysis also shows that the highest cost T0 (118 475) is significantly different from T1 (110 541) and T2 (109 558). The highest profit is shown by T1 (2 102) then T2 (1 063) and T0 (507). In conclusion, the use of "aking-rice" can increase the performance index with a higher ADG value and a lower FCR so that the costs are smaller and the profit is greater.
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