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"Lee, Jean Pi"
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Reflections for the twenty-first century
\"Reflections for the twenty-first century explores the present state of Earth and Homo sapiens, looking at past events and circumstances that have brought us to where we are today, where we are headed in the future, and how we can each play a role in a more sustainable existence. The first part of this collection of essays, articles, and poetry reflects on activist Jean Pi Lee's experiences in ecology and the environment--while the second section examines the species of Homo sapiens, its evolution, potential, communicative abilities, and more. With exercised to get you enthusiastic about saving the earth, as well as an abundance of additional reading resources to broaden your subject knowledge, Reflections for the twenty-first century is sure to embolden you to take action today!\"--Back cover.
Updated Meta-analysis Reveals Limited Efficacy of Vitamin D Supplementation in Chronic Low Back Pain
2024
Chronic low back pain (CLBP) significantly reduces quality of life and increases reliance on healthcare resources. Despite many individuals opting for vitamin D supplementation to alleviate CLBP, its efficacy remains debatable. This meta-analysis aimed to evaluate the potential benefits of vitamin D supplementation in treating this condition.
Adhering to PRISMA guidelines, we systematically reviewed the effectiveness of vitamin D supplementation in adults with CLBP, focusing exclusively on randomized controlled trials (RCTs). A comprehensive literature search was conducted up to May 2024 across multiple databases, including PubMed, Scopus, Cochrane Library, and Web of Science.
Ten RCTs meeting our inclusion criteria were analyzed. The results indicated that vitamin D supplementation did not significantly reduce pain scores compared to control groups (SMD: -0.130, 95%CI=-0.260 to 0.000; I
=0%), regardless of participants' baseline vitamin D levels. Moreover, long-term supplementation showed no notable improvement in CLBP outcomes (SMD: -0.097, 95%CI=-0.290 to -0.097; I
=19.878%). Additionally, supplementation with active forms of vitamin D (SMD: -0.321, 95%CI=-0.670 to 0.028; I
=0.000%) did not result in significant pain relief for chronic lower back pain.
Vitamin D supplementation does not substantially alleviate CLBP. Nevertheless, it may still be considered as part of a comprehensive treatment plan. Further research is necessary to explore its long-term effects and the underlying mechanisms that may explain the observed lack of benefit.
Journal Article
Pangenome graph construction from genome alignments with Minigraph-Cactus
2024
Pangenome references address biases of reference genomes by storing a representative set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles determined by variant callers can be used to construct pangenome graphs, but advances in long-read sequencing are leading to widely available, high-quality phased assemblies. Constructing a pangenome graph directly from assemblies, as opposed to variant calls, leverages the graph’s ability to represent variation at different scales. Here we present the Minigraph-Cactus pangenome pipeline, which creates pangenomes directly from whole-genome alignments, and demonstrate its ability to scale to 90 human haplotypes from the Human Pangenome Reference Consortium. The method builds graphs containing all forms of genetic variation while allowing use of current mapping and genotyping tools. We measure the effect of the quality and completeness of reference genomes used for analysis within the pangenomes and show that using the CHM13 reference from the Telomere-to-Telomere Consortium improves the accuracy of our methods. We also demonstrate construction of a
Drosophila melanogaster
pangenome.
Constructing genome graphs directly from genome assemblies overcomes single-reference bias.
Journal Article
Maternal Dietary Patterns During Pregnancy and Child Autism-Related Traits in the Environmental Influences on Child Health Outcomes Consortium
2024
We examined relationships between prenatal dietary patterns and child autism-related outcomes, including parent-reported clinician diagnoses of autism spectrum disorder (ASD) and Social Responsiveness Scale (SRS-2) scores, in up to 6084 participants (with analytic samples ranging from 1671 to 4128 participants) from 14 cohorts in the Environmental Influences on Child Health Outcomes (ECHO) consortium. Associations between quartiles of the Healthy Eating Index (HEI-2015), the Alternative Healthy Eating Index modified for Pregnancy (AHEI-P), and the Empirical Dietary Inflammatory Pattern (EDIP), calculated based on reported prenatal diet, and outcomes were examined using crude and multivariable regression (quantile for SRS scores and logistic for diagnosis). In adjusted models, the higher quartile of prenatal HEI score was associated with lower SRS scores (Q4 vs. Q1 β for median quantile = −3.41 95% CI = −5.15, −1.26). A similar association was observed for the AHEI-P score when adjusting for total calories (Q4 vs. Q1 β = −2.52 95% −4.59, −0.45). There were no significant associations of prenatal diet with ASD diagnosis. Findings from this large U.S.-based study do not suggest strong associations between prenatal dietary patterns and ASD-related outcomes, although subtle associations with broader traits suggest the need to further consider how prenatal diet may relate to ASD-related phenotypes.
Journal Article
Recombination between heterologous human acrocentric chromosomes
by
de Lima, Leonardo Gomes
,
Koren, Sergey
,
Rubinstein, Boris
in
45/23
,
631/181/457/649
,
631/208/212/2304
2023
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications
1
,
2
. Although the resolution of these regions in the first complete assembly of a human genome—the Telomere-to-Telomere Consortium’s CHM13 assembly (T2T-CHM13)—provided a model of their homology
3
, it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange. Here we show that acrocentric chromosomes contain pseudo-homologous regions (PHRs) indicative of recombination between non-homologous sequences. Utilizing an all-to-all comparison of the human pangenome from the Human Pangenome Reference Consortium
4
(HPRC), we find that contigs from all of the SAACs form a community. A variation graph
5
constructed from centromere-spanning acrocentric contigs indicates the presence of regions in which most contigs appear nearly identical between heterologous acrocentric chromosomes in T2T-CHM13. Except on chromosome 15, we observe faster decay of linkage disequilibrium in the pseudo-homologous regions than in the corresponding short and long arms, indicating higher rates of recombination
6
,
7
. The pseudo-homologous regions include sequences that have previously been shown to lie at the breakpoint of Robertsonian translocations
8
, and their arrangement is compatible with crossover in inverted duplications on chromosomes 13, 14 and 21. The ubiquity of signals of recombination between heterologous acrocentric chromosomes seen in the HPRC draft pangenome suggests that these shared sequences form the basis for recurrent Robertsonian translocations, providing sequence and population-based confirmation of hypotheses first developed from cytogenetic studies 50 years ago
9
.
Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.
Journal Article
An SMS intervention to reduce caregiver’s sugar-sweetened beverages: impacts on theoretical constructs and parenting practices from a randomized controlled trial in rural appalachia
2025
Kids SIP smart ER is a school-based behavioural intervention for rural Appalachia middle school students with an integrated two-way short message service (SMS) strategy for caregivers. When tested in a cluster randomized controlled trial, the intervention led to significant improvements in sugar-sweetened beverage (SSB) consumption among students and caregivers. This study explores changes in secondary caregiver outcomes, including changes in caregiver SSB-related theory of planned behaviour constructs (affective attitudes, instrumental attitudes, subjective norms, perceived behavioural control, and intentions), parenting practices, and the home environment. Participants included 220 caregivers (93% female, 88% White, 95% non-Hispanic, mean age 40.6) in Virginia and West Virginia at baseline and 7 months post-intervention. Relative to control caregivers ( n = 102), intervention caregivers ( n = 118) showed statistically significant improvements in instrumental attitudes (Coef.= 0.53, 95% CI [0.04, 1.01], p = 0.033), behavioural intentions (Coef.=0.46, 95% CI [0.05, 0.88], p = 0.027), parenting practices (Coef. = 0.22, 95% CI [0.11, 0.33], p < 0.001), and total home SSB availability (Coef. = –0.25, 95% CI [–0.39, –0.11], p < 0.001), with specific improvements for sweetened juice drinks (Coef. = –0.18, 95% CI [–0.35, –0.01], p = 0.043) and regular soda/soft drinks (Coef. = –0.31, 95% CI [–0.55, –0.07], p = 0.010). In contrast, there were no significant between group changes for affective attitudes, subjective norms, or perceived behavioural control. Our findings highlight future research areas and fill gaps in intervention literature. This study is among the few to develop and evaluate a scalable, theory-based caregiver SMS component in a rural, school-based intervention. Combined with evidence that Kids SIP smart ER improved SSB behaviours, our results emphasize the potential of theory-guided SMS interventions to impact SSB-related outcomes. Trial registration: Clincialtrials.gov: NCT03740113.
Journal Article