Progress on functional mechanisms of colorectal cancer causal SNPs in post-GWAS.

Colorectal cancer (CRC) is caused by genetic and environmental factors, and the genetic component plays a significant role in CRC development. Currently, genome-wide association studies (GWAS) have identified a large number of genetic loci associated with CRC risk. In the post-GWAS era, more and more efforts focus on deciphering the biological mechanisms behind these potential causal variants by using multi-omics data and functional experiments. Many analyses have revealed that most risk single nucleotide polymorphisms (SNPs) are located in non-coding regions and these variants may regulate the expression of target genes by altering the transcription factor-binding motif, epigenetic modification, chromatin accessibility or 3D genome conformation. Results obtained from post-GWAS era have highlighted the possibility of moving from association to function. In this review, we summarize the current status of CRC post-GWAS studies and discusses the clinical application as well as future directions of CRC GWAS, in order to better gain insight into the molecular basis of CRC and provide evidence for prevention.

Effect of soft brace wearing on plantar dynamics in patients with chronic ankle instability / 中国康复理论与实践

ObjectiveTo investigate the effect of daily soft brace wearing on plantar dynamics during walking in patients with chronic ankle instability (CAI). MethodsA total of 52 patients with unilateral chronic ankle instability (CAI) in Beijing Rehabilitation Hospital from February, 2021 to January, 2023 were randomly divided into control group (n = 26) and experimental group (n = 26). Both groups underwent an eight-week exercise training program. The control group wore placebo brace during daily activities, while the experimental group wore soft ankle brace. Plantar dynamic parameters were measured using a pressure plate system during walking, including peak plantar pressure and plantar impulse before and after intervention. ResultsSix participants dropped out in the control group and five in the experimental group, resulting in a final inclusion of 41 participants. After intervention, there was no significant difference in peak plantar pressure and impulse on the affected side in the control group among different areas (P > 0.05). In the experimental group, the peak pressure and impulse in the heel medial, heel lateral and forefoot medial areas increased (|t| > 4.192, P < 0.001), while the peak pressure and impulse in the midfoot and lateral forefoot areas decreased (t > 2.984, P < 0.05); the peak pressure and impulse in the heel medial, heel lateral and forefoot medial areas were higher in the experimental group than in the control group (|t| > 2.126, P < 0.05), and the peak pressure and impulse were lower in the midfoot and forefoot lateral areas (t > 2.133, P < 0.05). ConclusionWearing a soft brace during daily activities may optimize the distribution of peak plantar pressure and plantar impulse on the affected side in patients with CAI, which may prevent recurrence of sprains.

A retrospective study of correlation between serum levels of omega-3 polyunsaturated fatty acids and post-stroke cognitive impairment / 中华物理医学与康复杂志

Objective:To quantify any correlation between serum levels of omega-3 polyunsaturated fatty acids (ω3-PUFAs) and post-stroke cognitive impairment (PSCI).Methods:The clinical data of 77 patients hospitalized after a first stroke were analyzed. The Minimum Mental State Examination (MMSE) was used to divide them into impaired (PSCI) and unimpaired (non-PSCI) cohorts. The serum levels of ω3-PUFAs, α-linolenic acid (ALA), eieosapentaenoic acid (EPA) and dueosahexenoie acid (DHA) were compared between the two groups and correlated with the individuals′ MMSE scores.Results:The average ALA, EPA, DHA and total ω3-PUFAs levels of PSCI group were in most cases significantly lower than those of the non-PSCI group. Spearman correlation analysis showed that serum DHA level was a weak positive predictor of the MMSE scores (R=0.32, P≤0.05). Logistic regression analysis indicated that low serum DHA level was an independent risk factor for PSCI ( P≤0.01). Conclusions:Cognitively impaired stroke survivors tend to have lower serum ω3-PUFAs levels than those without cognitive impairment. There is a weak positive correlation between serum DHA levels and MMSE scores. Low serum DHA level is an independent risk factor for PSCI. The serum level of ω3-PUFAs is of high value in the auxiliary diagnosis and evaluation of PSCI.