Construction and application effect of coach competency model in volleyball

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Different WDR36 Mutation Pattern in Chinese Patients with Primary Open-angle Glaucoma

Purpose: To determine the distribution of WD repeat domain 36 (WDR36) sequence variants in Chinese patients with primary open-angle glaucoma (POAG). Methods: One hundred and thirty-five unrelated POAG patients (82 high tension glaucoma [HTG], 42 normal tension glaucoma [NTG], and 11 juvenile-onset POAG [JOAG] patients) and 77 unrelated controls were recruited. All 23 coding exons and splicing junctions of WDR36 were sequenced using BigDye® Terminator v3.1 cycle sequencing kit. Single nucleotide polymorphism (SNP) and haplotype associations were analyzed using PLINK (version 1.04). Results: Nineteen sequence alterations were identified, and eight of them were novel including two novel nonsynonymous SNPs (L240V and I713V). Except the common I264V polymorphism, no other previously reported disease-causing or disease-susceptibility mutations were found. The novel I713V mutation was observed in three (3.7%) patients with HTG. One intronic SNP, IVS5+30C>T (rs10038177), showed significantly higher frequency of minor allele T in HTG patients (16.5%) than in controls (1.3%; Odds ratio [OR]=15.0, p=7.9×10−7, Bonferroni corrected p=1.5×10−5). Haplotype GTA, which is composed of rs13153937, rs10038177, and rs11241095, was significantly associated with HTG (OR=22.5, p=0.002, Bonferroni corrected p=0.013). Neither the individual SNPs nor haplotypes of WDR36 were associated with NTG or JOAG (Bonferroni corrected p>0.05). Conclusions: Findings in this study suggest WDR36 to be associated with sporadic HTG but not with NTG or JOAG. Our results also suggest a different mutation pattern of WDR36 in the Chinese population from other ethnic populations

Chronic exercise interventions for executive function in overweight children: a systematic review and meta-analysis

ObjectivesTo systematically evaluate the effectiveness of chronic exercise in physical activity (PA) as an intervention for executive functions (EFs) in children.MethodsWe conducted a systematic search in the following online databases: Web of Science, Cochrane Library, PubMed, Embase, and EBSCOhost. The timing is from database inception to July 2023, following PRISMA guidelines. Our inclusion criteria required studies reporting executive function (EF) levels in overweight children (age 0–18 years) before and after interventions. The Cochrane risk of bias tool assessed study bias, and Egger's test examined publication bias. Subgroup analyses considered three moderators: intervention duration, weekly frequency, and session length.ResultsThe meta-analysis included a total of 10 studies with 843 participants. It revealed a statistically significant yet relatively small overall positive effect (g = 0.3, 95% CI 0.16–0.44, P < 0.01) of chronic exercise on EF in overweight children. Importantly, there was no significant heterogeneity (Q = 11.64, df = 12, P = 0.48; I2 = 0).ConclusionsChronic exercise interventions had a consistent positive impact on EF, irrespective of intervention duration, weekly frequency, or session length. However, given limitations in the number and design of studies, further high-quality research is needed to strengthen these conclusions.Systematic Review RegistrationPROSPERO identifier (CRD42023468588)

Clinical value of serum tumor markers in assessing the efficacy of neoadjuvant chemotherapy in advanced ovarian cancer: single-center prospective clinical study

ObjectiveThis study aimed to assess the clinical importance of various biomarkers, including NLR, CEA, CA199, CA125, CA153, and HE4, through dynamic testing to evaluate the effectiveness of neoadjuvant chemotherapy (NACT) for individuals facing advanced ovarian cancer. This provides valuable information for tailoring treatment plans to individual patients, thereby leading to a more personalized and effective management of individuals facing ovarian cancer.MethodsThe levels of NLR, CA125, CA199, CEA, CA153, and HE4 were detected before chemotherapy and after 3 courses of chemotherapy. Patients were categorized into ineffective and effective groups according to the effectiveness of NACT. To evaluate the factors influencing NACT’s effectiveness in individuals facing advanced ovarian cancer, receiver operating characteristic (ROC) curves, predictive modeling, and multifactorial regression analysis were employed.ResultsIn the effective group, the patients’ age, maximum tumor diameter, and CEA and HE4 levels of the patients were significantly higher compared to those in the ineffective group (P <.05). Additionally, the difference in HE4 levels before and after treatment between the effective and ineffective groups was statistically significant (P<.05). Multifactorial analysis showed that age and maximum tumor diameter were independent risk factors impacting the effectiveness of NACT in individuals facing advanced ovarian cancer (P<.05). The ROC curve for predicting the effectiveness of NACT in individuals facing advanced ovarian cancer showed a sensitivity of 93.3% for NLR and a specificity of 92.3% for CA199. HE4 emerged as the most reliable predictor, demonstrating a specificity of 84.6% and a sensitivity of 75.3%. The area under the curve of the combined CA125 and HE4 assays for predicting the ineffectiveness of NACT in individuals facing advanced ovarian cancer was 0.825, showcasing a specificity of 74.2% and a sensitivity of 84.6%.ConclusionThe predictive capacity for the effectiveness of NACT in individuals facing advanced ovarian cancer is notably high when considering the sensitivity of NLR and the specificity of CA199. Additionally, the combination of CA125 and HE4 assays can obtain a better predictive effect, which can accurately select patients suitable for NACT, determine the appropriate timing of the interval debulking surgery (IDS) surgery, and achieve a satisfactory tumor reduction effect

AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia

Purpose: The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls. Methods: High myopia patients had refractive errors of –6.00 diopters or greater and axial length longer than 26 mm. Control subjects had refractive errors less than –1.00 diopter and axial length shorter than 24 mm. The P1 promoter, all coding sequences, and adjacent splice-site regions of the PAX6 gene were screened in all study subjects by polymerase chain reaction and direct sequencing. PAX6 P1 promoter-luciferase constructs with variable AC and AG repeat lengths were prepared and transfected into human ARPE-19 cells prior to assaying for their transcriptional activities. Results: No sequence alterations in the coding or splicing regions showed an association with high myopia. Two dinucleotide repeats, (AC)m and (AG)n, in the P1 promoter region were found to be highly polymorphic and significantly associated with high myopia. Higher repeat numbers were observed in high myopia patients for both (AC)m (empirical p = 0.013) and (AG)n (empirical p = 0.012) dinucleotide polymorphisms, with a 1.327-fold increased risk associated with the (AG)n repeat (empirical p = 0.016; 95% confidence interval: 1.059–1.663). Luciferase-reporter analysis showed elevated transcription activity with increasing individual (AC)m and (AG)n and combined (AC)m(AG)n repeat lengths. Conclusions: Our results revealed an association between high myopia and AC and AG dinucleotide repeat lengths in the PAX6 P1 promoter, indicating the involvement of PAX6 in the pathogenesis of high myopia

Effects of Ultra-high Pressure Assisted Enzymatic Hydrolysis on Structure and Antioxidant Activity of Hemp Protein Isolate

Hemp Protein Isolate (HPI) was used as raw material to modify HPI through ultrahigh pressure assisted enzymatic hydrolysis reaction. The SDS-PAGE electrophoresis characteristics, surface hydrophobicity, sulfhydryl content, FTIR and endogenous fluorescence of the hydrolysate of hemp protein isolate (HPIH) were determined under different pressures to investigate the structural changes of the HPI before and after modification. The results showed that ultra-high pressure (UHP) (0.1, 100, 200, 300 MPa) treatment had a certain auxiliary effect on HPI enzymolysis reaction, and with the increase of pressure, the degree of enzymolysis reaction increased gradually, and the molecular weight decreased gradually. After HPI modification, the hydrophobic groups were gradually exposed, and the surface hydrophobicity increased first and then decreased with the increase of pressure, the change difference was significant (P<0.05). The surface hydrophobicity reached the maximum at 200 MPa. After enzymolysis, the free sulfhydryl content of HPIH decreased significantly (P<0.05), while the surface sulfhydryl content increased first and then decreased with the increase of pressure. The determination of amino acid composition and content of protein before and after modification showed that the amino acid composition of HPI remained unchanged before and after modification, but the contents of various amino acids decreased to varying degrees. According to the fourier infrared spectroscopy, compared with HPI, the absorption peak intensity, peak shape and peak area of HPIH changed to different degrees, indicating that the secondary structure of protein was changed by the ultra-high pressure assisted enzymatic hydrolysis reaction. The endogenous fluorescence spectra showed that the fluorescence intensity of HPIH increased and the maximum emission wavelength was redshifted, indicating that the tertiary structure of HPI was changed by the enzymatic hydrolysis reaction. The results of antioxidant activity showed that appropriate pressure treatment could effectively improve the antioxidant capacity of enzymatic hydrolysis products. When the pressure was 200 MPa, the reducing power of HPIH of DPPH· and ABTS+· reached the highest. In conclusion, ultrahigh pressure assisted enzymatic hydrolysis modification can significantly change the secondary and tertiary structure of HPI, exposing hydrophobic groups and other active groups, thereby improving its antioxidant properties

A comparative study of multiple instance learning methods for cancer detection using T-cell receptor sequences

As a branch of machine learning, multiple instance learning (MIL) learns from a collection of labeled bags, each containing a set of instances. The learning process is weakly supervised due to ambiguous instance labels. Since its emergence, MIL has been applied to solve various problems including content-based image retrieval, object tracking/detection, and computer-aided diagnosis. In biomedical research, the use of MIL has been focused on medical image analysis and molecule activity prediction. We review and apply 16 methods to investigate the applicability of MIL to a novel biomedical application, cancer detection using T-cell receptor (TCR) sequences. This important application can be a viable approach for large-scale cancer screening, as TCRs can be easily profiled from a subject’s peripheral blood. We consider two feasible data-generating mechanisms, and for the purpose of performance evaluation, we simulate data under each mechanism, where we vary potentially important factors to mimic realistic situations. We also apply the methods to sequencing data of ten cancer types from The Cancer Genome Atlas, as an early proof of concept for distinguishing tumor patients from healthy individuals via TCR sequencing of peripheral blood. We find that given an appropriate MIL method is used, satisfactory performance with Area Under the Receiver Operating Characteristic Curve above 80% can be achieved for five in the ten cancers. Based on our numerical results, we make suggestions about selection of a proper method and avoidance of any method with poor performance. We further point out directions of future research as well as identify a pressing need of new MIL methodologies for improved performance (for some cancer types) and more explainable outcomes