Comparison of treatment outcomes between intermittent and daily regimens in non-cavitary nodular bronchiectatic-type Mycobacterium avium complex pulmonary disease in relation to sputum smear results: a retrospective cohort study.

This study retrospectively analyzed the treatment outcomes of 110 patients with non-cavitary nodular bronchiectatic-type Mycobacterium avium complex pulmonary disease who received intermittent or daily treatment with a three-drug oral antibiotic regimen (i.e., a macrolide, ethambutol, and rifampin) at a tertiary referral center in South Korea. Among these patients, 36 had sputum smear positivity. Of these 36 patients, intermittent treatment led to a lower culture conversion rate than daily treatment [50.0% (8/16) vs 85.0% (17/20), P = 0.034].

Impact of Survival Swimming Experience on Positive Emotions, Self-Efficacy, and Safety Behaviors among Swimming Club Members in Korea.

Background: We aimed to analyze the influence survival swimming experience on positive emotions, self-efficacy, and safety behaviors among swimming club members in Korea. Methods: A total of 205 adult men and women involved in swimming clubs in the Seoul and Gyeonggi areas of Korea were surveyed via convenience sampling from 2021-22. A self-administered questionnaire was used to obtain data related to positive emotions, self-efficacy, and safety behaviors. Frequency analysis, Cronbach's α, reliability analysis, confirmatory factor analysis, correlation analysis, and structural equation modelling were performed. Results: Survival swimming experience had a positive effect on positive emotions (P<0.05), self-efficacy (P<0.05), and safety behaviors (P<0.05). Positive emotions did not have a positive effect on self-efficacy; however, they were found to have a positive effect on safety behaviors. Conclusion: Positive emotions, self-efficacy, and safety behaviors can be improved via survival swimming experience. Successful experiences with survival swimming could promote self-efficacy and safety behaviors, highlighting the importance of survival swimming education. Therefore, proficiency should be emphasized when attempting to increase the effectiveness of survival swimming education. To achieve this outcome, developing diverse survival swimming programs for each level of proficiency is necessary to ensure adequate transmission of knowledge.

Analysis of trunk muscles activity during horseback riding machine exercise in children with spastic cerebral palsy.

Appropriate trunk muscle activity is needed to perform functional activities in cerebral palsy, this study analyzed the activity of trunk muscles during horseback riding machine exercise in children with spastic cerebral palsy. 10 children with spastic cerebral palsy were participated, the activity of the trunk muscles, including both sides of the rectus abdominis, external oblique, latissimus dorsi, and erector spinae in sitting posture and during horseback riding machine exercise were evaluated using a surface electromyography. The activity of bilateral rectus abdominis, external oblique, latissimus dorsi, and erector spinae increased during horseback riding machine exercise than quiet sitting posture. Moreover, there were significant differences in activities of the trunk muscles between the sitting posture and horseback riding machine exercise, with the exception of the left external oblique and the left latissimus dorsi. Horseback riding machine exercise provides more opportunities to use the trunk muscles for children with spastic cerebral palsy than general sitting posture. In future, it will be of use to investigate the effect of horseback riding machine exercise in patients with cerebral palsy.

Blood Transcriptome Profiling in Myasthenia Gravis Patients to Assess Disease Activity: A Pilot RNA-seq Study.

Myasthenia gravis (MG) is an antibody-mediated autoimmune disease characterized by exertional weakness. There is no biomarker to reflect disease activity and guide treatment decision. Here, we reported a pilot blood transcriptome study using RNA sequencing (RNA-seq) that identified differences of 5 samples in active status and 5 in remission from 8 different patients and 2 patients provided samples for both active and remission phase. We found a total of 28 differentially expressed genes (DEGs) possibly related to disease activity (23 up-regulated and 5 down-regulated). The DEGs were enriched for the cell motion and cell migration processes in which included were ICAM1, CCL3, S100P and GAB2. The apoptosis and cell death pathway was also significantly enriched, which includes NFKBIA, ZC3H12A, TNFAIP3, and PPP1R15A. Our result suggests that transcript abundance profiles of the genes involved in cell trafficking and apoptosis may be a molecular signature of the disease activity in MG patients.

Detection of Novel Genomic Markers for Predicting Prognosis in Hepatocellular Carcinoma Patients by Integrative Analysis of Copy Number Aberrations and Gene Expression Profiles: Results from a Long-Term Follow-Up.

The aim of this study was to explore novel genomic biomarkers predicting hepatocellular carcinoma (HCC) prognosis by integrative analysis of DNA copy number aberrations (CNAs) and gene expression profiles. Array comparative genomic hybridization and expression array were performed on 45 and 31 HCC samples, respectively. To identify functionally important genes, concordant results of DNA copy number and gene expression were retrieved by integrative analysis. Cox regression analysis indicated that the CNAs in 192 genomic regions were significantly associated with overall survival (OS; p < 0.05). Integrative analysis capturing concordant results demonstrated that the low expression of TLE4 (p = 0.041) and XPA (p = 0.006) was associated with poor OS. In the analysis of tumor recurrence, 514 genomic regions with CNAs were associated with recurrence. Integrative analysis revealed that the overexpression of 16 genes, including FGR (p = 0.003), RELA (p = 0.049), LTBP3 (p = 0.050), and RIN1 (p = 0.023), was significantly associated with shorter time to tumor recurrence. On multivariate analysis, FGR and XPA were independent risk factors of early recurrence and poor OS, respectively. Integrated analysis of CNAs and gene expression profiles correlated with long-term follow-up data successfully identified potential prognostic markers predicting survival and tumor recurrence in patients with HCC who underwent surgical resection.

Identification of differentially-expressed genes by DNA methylation in cervical cancer.

To identify novel cervical cancer-related genes that are regulated by DNA methylation, integrated analyses of genome-wide DNA methylation and RNA expression profiles were performed using the normal and tumor regions of tissues from four patients; two with cervical cancer and two with pre-invasive cancer. The present study identified 19 novel cervical cancer-related genes showing differential RNA expression by DNA methylation. A number of the identified genes were novel cervical cancer-related genes and their differential expression was confirmed in a publicly available database. Among the candidate genes, the epigenetic regulation and expression of three genes, CAMK2N1, ALDH1A3 and PPP1R3C, was validated in HeLa cells treated with a demethylating reagent using methylation-specific polymerase chain reaction (PCR) and quantitative PCR, respectively. From these results, the expression of the CAMK2N1, ALDH1A3 and PPP1R3C genes are were shown to be suppressed in cervical cancers by DNA methylation. These genes may be involved in the progression or initiation of cervical cancer.

Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis.

INTRODUCTION: Although it has been suggested that rare coding variants could explain the substantial missing heritability, very few sequencing studies have been performed in rheumatoid arthritis (RA). We aimed to identify novel functional variants with rare to low frequency using targeted exon sequencing of RA in Korea. METHODS: We analyzed targeted exon sequencing data of 398 genes selected from a multifaceted approach in Korean RA patients (n = 1,217) and controls (n = 717). We conducted a single-marker association test and a gene-based analysis of rare variants. For meta-analysis or enrichment tests, we also used ethnically matched independent samples of Korean genome-wide association studies (GWAS) (n = 4,799) or immunochip data (n = 4,722). RESULTS: After stringent quality control, we analyzed 10,588 variants of 398 genes from 1,934 Korean RA case controls. We identified 13 nonsynonymous variants with nominal association in single-variant association tests. In a meta-analysis, we did not find any novel variant with genome-wide significance for RA risk. Using a gene-based approach, we identified 17 genes with nominal burden signals. Among them, VSTM1 showed the greatest association with RA (P = 7.80 × 10-4). In the enrichment test using Korean GWAS, although the significant signal appeared to be driven by total genic variants, we found no evidence for enriched association of coding variants only with RA. CONCLUSIONS: We were unable to identify rare coding variants with large effect to explain the missing heritability for RA in the current targeted resequencing study. Our study raises skepticism about exon sequencing of targeted genes for complex diseases like RA.