Aims: The purposes of this research were to study the convergent validity of the Mode and Frequency of Commuting To and From School Questionnaire using objectively assessed steps and time spent in ...different physical activity intensities and to compare the self-reported versus objective journey time in Spanish youths. Methods: Three hundred and eighty-nine Spanish youth aged 7–19 years were asked to complete the questionnaire and wore an accelerometer for five days. The objective commuting distance and time from home to school were estimated using Google MapsTM. Results: There were significant differences between passive and walking participants on step numbers, sedentary time and physical activity levels (except for vigorous physical activity in children). For children, a mean difference of −4.03 minutes between objective measured and self-reported journey time was found (95% limits of agreement were 13.55 and −21.60 minutes). For adolescents, the mean difference was −1.39 minutes (95% limits of agreement were 15.23 and −18.02 minutes). Conclusions: The findings indicated that the Mode of Commuting To and From School Questionnaire showed a convergent validity to assess this behaviour in Spanish youths. Self-reported journey time for walking is comparable to Google MapsTM in adolescents but not in children.
Short tandem repeats (STRs) and variable number tandem repeats (VNTRs) are important sources of natural and disease-causing variation, yet they have been problematic to resolve in reference genomes ...and genotype with short-read technology. We created a framework tomodel the evolution and instability of STRs and VNTRs in apes. We phased and assembled 3 ape genomes (chimpanzee, gorilla, and orangutan) using long-read and 10x Genomics linkedread sequence data for 21,442 human tandem repeats discovered in 6 haplotype-resolved assemblies of Yoruban, Chinese, and Puerto Rican origin. We define a set of 1,584 STRs/VNTRs expanded specifically in humans, including large tandem repeats affecting coding and noncoding portions of genes (e.g., MUC3A, CACNA1C). We show that short interspersed nuclear element–VNTR–Alu (SVA) retrotransposition is the main mechanism for distributing GC-rich human-specific tandem repeat expansions throughout the genome but with a bias against genes. In contrast, we observe that VNTRs not originating from retrotransposons have a propensity to cluster near genes, especially in the subtelomere. Using tissuespecific expression from human and chimpanzee brains, we identify genes where transcript isoform usage differs significantly, likely caused by cryptic splicing variation within VNTRs. Using single-cell expression from cerebral organoids, we observe a strong effect for genes associated with transcription profiles analogous to intermediate progenitor cells. Finally, we compare the sequence composition of some of the largest human-specific repeat expansions and identify 52 STRs/VNTRs with at least 40 uninterrupted pure tracts as candidates for genetically unstable regions associated with disease.
The aims of the present study were to assess the association of environmental perception with objective and self-reported physical activity (PA) and the relation between environmental perception and ...meeting PA recommendations on children and adolescents. A sample of 1520 youth (770 boys) aged 8-18 years (12.1 ± 2.5 years) from the UP&DOWN study were included in the data analyses. Environmental perception was assessed with the short adapted version of the ALPHA environmental questionnaire. PA was objectively (accelerometers) and self-reported measured (PA Questionnaire for Children, Patient-centered Assessment and Counseling for Exercise Questionnaire and Finnish PA Index). Linear regression models were used to assess the association of environmental perception with PA. Bivariate logistic regression models were used to assess differences between environmental perception and meeting PA recommendations. Environmental perception was positively associated with both objective and self-reported PA. Some differences were found in the association of environmental perception and PA between sex- and age-specific groups. Youth who perceived a more favourable environment were more likely to meet PA recommendations (at least 60 min · day
−1
of moderate to vigorous PA (MVPA)). Results suggest that environmental perceptions of children and adolescents may play an important role in achieving higher levels of PA.
Objective: To examine the combined influence of four lifestyle risk factors related to physical activity, television viewing, sleep duration, and meal frequency on body fat (BF) in adolescents. ...Method: This cross-sectional study comprised 1,310 Spanish adolescents (age 13–18.5 years). Lifestyle variables were self-reported and BF indicators (weight, height, six skinfold thicknesses, waist circumference) measured during the years 2000–2002. Lifestyle risk factors were: physically inactive, ≧3 h/day watching television, <8 h/day sleep duration, and <5 meals a day. The number of lifestyle risk factors was calculated for each participant, ranging from 0 to 4. Results: The number of lifestyle risk factors was positively associated with sum of six skinfolds, %BF, waist circumference, and waist-height ratio (all p < 0.001). The odds ratios (95% confidence interval) of overweight (including obesity) for groups with 1, 2, and 3–4 lifestyle risk factors compared with those with 0 were 2.86 (1.77–4.62), 3.61 (2.16–6.04), and 5.81 (3.07–10.99), respectively (p for trend <0.001). All the observations were independent of age, gender, race, socioeconomic status, and fat free mass. Conclusion: The combined influence of four lifestyle risk factors is positively associated with BF and an approximately sixfold risk of overweight in adolescents.
Lead-free layered-defect perovskite Ksub.3Bisub.2Xsub.9 (X = I, Br, and Cl) films were proposed as efficient photocatalysts for the COsub.2 reduction reaction (CO2RR) to obtain clean and sustainable ...formic acid (HCOOH), a widely used feedstock in the industry. The films exhibited high crystallinity, hexagonal morphologies, and visible light absorption, which were modified by proportionally increasing the diameter of the X anion. The obtained photocatalytic activities showed values of 299 µmol hsup.−1 (Ksub.3Bisub.2Brsub.9), 283 µmol hsup.−1 (Ksub.3Bisub.2Isub.9), and 91 µmol hsup.−1 (Ksub.3Bisub.2Clsub.9). However, the stability of the films is an important parameter that must be solved; therefore, three strategies were implemented—one with an intrinsic approach (solvent engineering) and two others with an extrinsic focus (substrate modification and heterojunction engineering). These modifications favored yields of up to 738 µmol hsup.−1 and constant production over 6 h, demonstrating that the perovskite maintains continuous HCOOH generation. The analysis of the reaction medium showed the degradation of the material structure to BiOI and Ksup.+, which could have enhanced its affinity towards COsub.2. In this manner, the degraded perovskite (Ksub.3Bisub.2Isub.9/BiOI) might still react with the COsub.2 to generate HCOOH in an aqueous medium under visible light, showing pseudocatalytic behavior.
Background
Recent studies have suggested that plasma p‐tau biomarkers are associated with cross‐sectional brain amyloid(Aβ) rather than tau tangle pathology. However, it is still unclear if plasma ...tau biomarkers are closely related to changes in AD pathophysiology over time. In this work, we aimed to determine if cross‐sectional measures of plasma tau biomarkers are associated with longitudinal changes in Aβ‐PET, tau‐PET, and cognition across the AD spectrum.
Method
We evaluated 157 individuals(96 cognitively unimpaired(CU) and 61 cognitively impaired (CI)) with available baseline measures of plasma Aβ42/40, p‐tau(at threonine 181, 217+, and 231), N‐terminal tau fragments(NTA, a new brain derived tau marker), and glial fibrillary acidic protein(GFAP) and with longitudinal 18FAZD4694 Aβ‐PET, 18FMK6340 tau‐PET and Clinical Dementia Rating sum of boxes(CDR‐SB) score from the TRIAD cohort. We also included 321(118 CU and 203 CI) individuals from the ADNI cohort with baseline plasma p‐tau181 and 18Fflorbetapir Aβ‐PET and longitudinal CDR‐SB. Using linear regressions adjusted for age and sex we tested the associations between plasma biomarkers and longitudinal changes in Aβ‐PET, tau‐PET, and CDR‐SB.
Result
In CU, changes in tau‐PET were significantly associated only with plasma p‐tau217+(β = 0.331, p<0.01,Figure1A). Changes in Aβ‐PET were significantly associated with p‐tau181(β = 0.594, p<0.01,Figure2A), p‐tau217+(β = 0.311, p = 0.02) and NTA(β = 0.435, p<0.01), while no plasma biomarker was associated with changes in cognition in CU(Figure3A). In CI, changes in tau‐PET were significantly associated with plasma p‐tau181(β = ‐0.338, p = 0.03,Figure1B) and NTA(β = ‐0.379, p = 0.03), while no plasma biomarker was significantly associated with changes in Aβ‐PET. Changes in cognition were significantly associated with plasma p‐tau181(β = 0.340, p = 0.01, Figure3B), p‐tau217+(β = 0.54, p<0.01), and NTA(β = 0.530, p<0.01). Similarly, in the ADNI cohort, plasma p‐tau181 was associated with longitudinal changes in cognition in CI (β = 0.247, p<0.01,Figure3D).
Conclusion
We demonstrate that cross‐sectional measures of plasma p‐tau and NTA biomarkers were associated with longitudinal Aβ deposition and tau accumulation in CU, while in CI they were only associated with tau accumulation. Interestingly, plasma tau biomarkers were also associated with changes in cognition in CI individuals. The fact that abnormal levels of plasma tau biomarkers are associated with longitudinal changes in AD pathophysiology has implications for the use of these markers in clinical trials and practice.
To examine the association between cardiorespiratory fitness (CRF) at baseline and cardiovascular disease (CVD) risk in 6- to 10-year-olds (cross-sectional) and 2 years later (8- to 12-year-olds ...longitudinal) and whether changes with age in CRF are associated with CVD risk in children aged 8 to 12 years.
Spanish primary schoolchildren (n=236) aged 6 to 10 years participated at baseline. Of the 23 participating primary schools, 22% (n=5) were private schools and 78% (n=18) were public schools. The dropout rate at 2-year follow-up was 9.7% (n=23). The 20-m shuttle run test was used to estimate CRF. The CVD risk score was computed as the mean of 5 CVD risk factor standardized scores: sum of 2 skinfolds, systolic blood pressure, insulin/glucose, triglycerides, and total cholesterol/high-density lipoprotein cholesterol.
At baseline, CRF was inversely associated with single CVD risk factors (all P<.05) and CVD risk score at baseline and follow-up (P<.001). Cardiorespiratory fitness cutoff points of 39.0 mL/kg per minute or greater in boys and 37.5 mL/kg per minute or greater in girls are discriminative to identify CVD risk in childhood (area under the curve, >0.85; P<.001) and to predict CVD risk 2 years later (P=.004). Persistent low CRF or the decline of CRF from 6-10 to 8-12 years of age is associated with increased CVD risk at age 8 to 12 years (P<.001).
During childhood, CRF is a strong predictor of CVD risk and should be monitored to identify children with potential CVD risk.
Previous studies suggest that the physical environment is associated with youth physical activity levels.
The present study aimed at assessing the reliability and validity of an adapted version of ...the ALPHA environmental questionnaire (short version) to adults for application with Spanish youth.
The reliability was evaluated in a sample (n = 190, 80 girls, 14.08 ± 1.38 years) using the Intraclass Correlation Coefficient (ICC) and Weighted kappa. In other sample (n = 140, 61 girls, 13.03 ± 1.40 years) the validity was assessed using the Spearman correlation (rho) for its association with self-reported and objective (accelerometers) physical activity (PA).
The test-retest reliability showed ICC = 0.69 for the total questionnaire score, ranging from k = 0.42 to 0.77 for individual items. The total score showed significant correlations with PA reported by PACE questionnaire (rho = 0.18, p = 0.040), the Finnish Physical Activity Index (rho = 0.26, p = 0.002) and active commuting for girls (rho = 0.34, p = 0.010), as well as vigorous PA measured by accelerometry (rho = 0.18, p = 0.038).
The adapted version of the ALPHA environmental questionnaire has moderate to good reliability and acceptable validity to assess environmental factors that may influence PA in youth.
Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1-1 Mb in size termed Topological Associating Domains (TADs). Genetic factors that explain ...dynamic variation in TAD structure are not understood. We hypothesize that common structural variation (SV) in the human population can disrupt regulatory sequences and thereby influence TAD formation. To determine the effects of SVs on 3D chromatin organization, we performed chromosome conformation capture sequencing (Hi-C) of lymphoblastoid cell lines from 19 subjects for which SVs had been previously characterized in the 1000 genomes project. We tested the effects of common deletion polymorphisms on TAD structure by linear regression analysis of nearby quantitative chromatin interactions (contacts) within 240 kb of the deletion, and we specifically tested the hypothesis that deletions at TAD boundaries (TBs) could result in large-scale alterations in chromatin conformation.
Large (> 10 kb) deletions had significant effects on long-range chromatin interactions. Deletions were associated with increased contacts that span the deleted region and this effect was driven by large deletions that were not located within a TAD boundary (nonTB). Some deletions at TBs, including a 80 kb deletion of the genes CFHR1 and CFHR3, had detectable effects on chromatin contacts. However for TB deletions overall, we did not detect a pattern of effects that was consistent in magnitude or direction. Large inversions in the population had a distinguishable signature characterized by a rearrangement of contacts that span its breakpoints.
Our study demonstrates that common SVs in the population impact long-range chromatin structure, and deletions and inversions have distinct signatures. However, the effects that we observe are subtle and variable between loci. Genome-wide analysis of chromatin conformation in large cohorts will be needed to quantify the influence of common SVs on chromatin structure.
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