Category: Statistics

Biochem Genet. 2024 Jul 2. doi: 10.1007/s10528-024-10873-8. Online ahead of print.

ABSTRACT

Sarcomas are malignant tumors that may metastasize and the course of the disease is highly aggressive in children and young adults. Because of the rare incidence of sarcomas and the heterogeneity of tumors, there is a need for non-invasive diagnostic and prognostic biomarkers in sarcomas. The aim of the study was to investigate the level of miR-218-5p in peripheral blood and tumor tissue samples of Ewing’s sarcoma, osteosarcoma, spindle cell sarcoma patients, and healthy controls, and assessed whether the corresponding molecule was a diagnostic and prognostic biomarker. The study was performed patients (n = 22) diagnosed and treated with Ewing’s sarcoma and osteosarcoma and in a control group of 22 healthy children who were matched for age, gender, and ethnicity with the patient group. The expression level of miR-218-5p in RNA samples from peripheral blood and tissue samples were analyzed using the RT-PCR and the expression level of miR-218-5p was evaluated by comparison with the levels in patients and healthy controls. The expression level of miR-218-5p was found to be statistically higher (3.33-fold, p = 0.006) in pediatric patients with sarcomas and when the target genes of miR-218-5p were investigated using the bioinformatics tools, the miR-218-5p was found as an important miRNA in cancer. In this study, the miR-218-5p was shown for the first time to have been highly expressed in the peripheral blood and tumor tissue of sarcoma patients. The results suggest that miR-218-5p can be used as a diagnostic and prognostic biomarker in sarcomas and will be evaluated as an important therapeutic target.

PMID:38954213 | DOI:10.1007/s10528-024-10873-8

Biochem Genet. 2024 Jul 2. doi: 10.1007/s10528-024-10868-5. Online ahead of print.

ABSTRACT

Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to explore the impact of thalassemia genotypes, hepcidin antimicrobial peptide (HAMP) and hereditary hemochromatosis (HFE) gene variants, and hepcidin expression on serum ferritin and endocrinal complications in thalassemia patients. The study comprised fifty beta-thalassemia cases and fifty age- and sex-matched controls. Genotyping of the Beta-globin gene (HBB), HAMP, and exon 2 of the HFE gene was performed using Sanger sequencing. C282Y (c.845G > A) variant of the HFE gene was determined by PCR-RFLP. Hepcidin mRNA expression was assessed by qRT-PCR. Biochemical and hormonal studies were done for all patients. Hypogonadism and short stature were found in 56% and 20% of the investigated cases, respectively. Molecular studies reported a statistically higher frequency of the HAMP variant c.-582A > G in thalassemic patients than controls. Significant downregulation of hepcidin expression was found in cases compared to healthy subjects that was significantly associated with short stature. Considering the thalassemia alleles, the IVSI.1G > A (β⁰) allele was statistically related to hypogonadism. Our results proposed that thalassemia genotypes and downregulated hepcidin expression were the potential risk factors for endocrinopathies in our cases. We also demonstrated an increased incidence of the HAMP promoter variant c.- 582A > G that might have a role in the pathogenesis of iron overload in thalassemic cases. Significant downregulation of hepcidin expression, that contributes to increased iron burden, could be used as a future therapeutic target in these patients.

PMID:38954212 | DOI:10.1007/s10528-024-10868-5

J Mol Histol. 2024 Jul 1. doi: 10.1007/s10735-024-10215-3. Online ahead of print.

ABSTRACT

INTRODUCTION: Oral cancer poses a significant burden on public health in India, with higher incidence and mortality rates. Despite advancements in treatment modalities, prognosis remains poor due to factors such as localized recurrence and lymph node metastasis, potentially influenced by cancer stem cells. Among signaling pathways implicated in CSC regulation, the Hedgehog pathway plays a crucial role in oral squamous cell carcinoma (OSCC).

MATERIAL & METHODS: 97 OSCC patients’ tissue samples were collected and subjected to RNA isolation, cDNA synthesis and quantitative real-time PCR to analyze PTCH1 and SMO expression. Protein expression was assessed through immunohistochemistry. Clinicopathological parameters were correlated with gene and protein expression. Statistical analysis included Pearson chi-square tests, co-relation co-efficient tests, Kaplan-Meier survival analysis and ROC curve analysis.

RESULTS: PTCH1 expression correlated with lymphatic permeation (p = 0.002) and tumor stage (p = 0.002), while SMO expression correlated with lymph node status (p = 0.034) and tumor stage (p = 0.021). PTCH1 gene expression correlated with lymph node status (p = 0.024). High PTCH1 gene expression was associated with shorter survival in tongue cancer patients. ROC curve analysis indicated diagnostic potential for PTCH1 and SMO gene and cytoplasmic SMO expression in distinguishing malignant tissues from adjacent normal tissues.

CONCLUSION: PTCH1 and SMO play a crucial role in oral cancer progression, correlating with tumor stages and metastatic potential. Despite not directly influencing overall survival, PTCH1 expression at specific anatomical sites hints at its prognostic implications. PTCH1 and SMO exhibit diagnostic potential, suggesting their utility as molecular markers in oral cancer management and therapeutic strategies.

PMID:38954185 | DOI:10.1007/s10735-024-10215-3

Health Policy Plan. 2024 Jun 20:czae053. doi: 10.1093/heapol/czae053. Online ahead of print.

ABSTRACT

Indonesian laws mandate that every employer should provide health insurance and work accident insurance to their employees. Nevertheless, there is a significant gap in the coverage of employer-sponsored insurance among Indonesian workers. This study examines the coverage of employer-sponsored insurance and work accident insurance and analyses the characteristics of the uninsured working population in Indonesia. We analysed nationally representative cross-sectional data from the National Labour Force Survey (NLFS) conducted between 2018-2022. The primary dependent variable was the provision of health insurance and work accident insurance by employers. The independent variables included having any physical disabilities, number of working hours, duration of employment, labour union membership, earning at least the provincial minimum wage, having a written contract, and working in high risk jobs. Logistic regression was employed using the R statistical software. The findings indicate that coverage of employer-sponsored health insurance is low in Indonesia – ranging from 36.1% in 2018 to 38.4% in 2022. Workers with a written contract, earning at least the provincial minimum wage, were members of a labour union, employed for at least 5 years, and working more than 40 hours a week were more likely to be insured. By contrast, workers who had physical disabilities or were employed in high risk jobs were less likely to be insured. Our study concludes that having a written employment contract is the single most influential factor that explains the provision of employer-sponsored health insurance in Indonesia. The country’s labour laws should therefore formalise the provision of written employment contracts for all workers regardless of the type and nature of work. The existing laws on health insurance and work accident insurance should be enforced to ensure that employers meet their constitutionally mandated obligation of providing these types of insurance to their workers, particularly those engaged in high risk jobs.

PMID:38953287 | DOI:10.1093/heapol/czae053

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2024 Jun;46(3):377-383. doi: 10.3881/j.issn.1000-503X.15892.

ABSTRACT

Objective To analyze the research progress and hot topics in hypertrophic cardiomyopathy from 2018 to 2022.Methods The publications in the field of hypertrophic cardiomyopathy from January 1,2018 to December 31,2022 were retrieved from Web of Science core collection database and included for a bibliometric analysis.Results A total of 6355 publications were included,with an average citation frequency of 7 times.The year 2021 witnessed the most publications (1406).The analysis with VOSviewer showed that the research on sudden death related to hypertrophic cardiomyopathy,especially the predictive value of late gadolinium-enhanced cardiac MRI in sudden death,was a hot topic.In addition,gene detection and the new drug mavacamten became hot research topics.The United States was the country with the largest number of publications and the highest citation frequency in this field.Chinese scholars produced the second largest number of publications,which,however,included few high-quality research results.Conclusions Risk stratification and prevention of sudden death is still an important and hot research content in the field of hypertrophic cardiomyopathy.Chinese scholars should carry out multi-center cooperation in the future to improve the research results.

PMID:38953261 | DOI:10.3881/j.issn.1000-503X.15892

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2024 Jun;46(3):329-333. doi: 10.3881/j.issn.1000-503X.15734.

ABSTRACT

Objective To evaluate the value of SOX1 and PAX1 gene methylation detection in the secondary triage of high-grade cervical lesions.Methods Exfoliated cervical cells were collected from 122 patients tested positive for human papilloma virus (HPV) and subjected to thin-prep cytologic test (TCT) and SOX1/PAX1 gene methylation tests.Results The HPV test combined with TCT showed the sensitivity of 95.24% and the specificity of 23.75% for detecting cervical intraepithelial neoplasia (CIN) grade 2 and above (CIN2+).After the addition of the SOX1/PAX1 gene methylation detection in secondary triage,the sensitivity for detecting CIN2+ was 83.33%,which had no statistically significant difference from the sensitivity of TCT combined with HPV test (P=0.078).However,the specificity reached 77.50%,which was significantly higher than that of HPV test combined with TCT (P<0.001).The SOX1/PAX1 gene methylation level in the CIN2+ group was higher than those in the normal cervical tissue and the CIN1 group(P<0.001).The cut-off values of SOX1 and PAX1 gene methylation for CIN2+ detection were -11.81 and -11.98,respectively.Conclusion Adding the detection of SOX1/PAX1 gene methylation in secondary triage significantly improves the efficiency and accuracy of CIN2+ detection.

PMID:38953256 | DOI:10.3881/j.issn.1000-503X.15734

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2024 Jun;46(3):324-328. doi: 10.3881/j.issn.1000-503X.15839.

ABSTRACT

Objective To assess the influences of self-and interviewer-administered methods on the scores of anxiety and depression questionnaires among the patients with sports injuries.Methods A total of 532 participants with sports injuries treated in the Sports Medicine Center of West China Hospital,Sichuan University from November 2022 to May 2023 were included.They were randomly assigned to either the interviewer-administered group (n=270) or the self-administered group (n=262) to complete the generalized anxiety disorder (GAD-7) and the patient health questionnaire (PHQ-9) scales.The total scores and prevalence rates of anxiety and depression were compared between the two groups.Results There was no statistically significant difference in gender,occupation,or surgical site between the two groups (all P>0.05).The self-administered group had higher scores of GAD-7 and PHQ-9 scales than the interviewer-administered group (P<0.001,P<0.001).A greater proportion of participants in the self-administered group than in the interview-administered group met the criteria for mild to moderate anxiety and depression (P<0.001,P=0.002).The prevalence rates of moderate to severe anxiety (GAD-7≥10) and depression (PHQ-9≥10) showed no statistically significant difference between the two groups (P=0.761,P=0.086).Conclusion This study demonstrates that the participants in the self-administered group are more likely to report mild to moderate symptoms of anxiety and depression than those in the interviewer-administered group.

PMID:38953255 | DOI:10.3881/j.issn.1000-503X.15839

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2024 Jun;46(3):316-323. doi: 10.3881/j.issn.1000-503X.15834.

ABSTRACT

Objective To investigate the expression levels of selenoprotein genes in the patients with coronavirus disease 2019 (COVID-19) and the possible regulatory mechanisms.Methods The dataset GSE177477 was obtained from the Gene Expression Omnibus,consisting of a symptomatic group (n=11),an asymptomatic group (n=18),and a healthy control group (n=18).The dataset was preprocessed to screen the differentially expressed genes (DEG) related to COVID-19,and gene ontology functional annotation and Kyoto encyclopedia of genes and genomes enrichment analysis were performed for the DEGs.The protein-protein interaction network of DEGs was established,and multivariate Logistic regression was employed to analyze the effects of selenoprotein genes on the presence/absence of symptoms in the patients with COVID-19.Results Compared with the healthy control,the symptomatic COVID-19 patients presented up-regulated expression of GPX1,GPX4,GPX6,DIO2,TXNRD1,SELENOF,SELENOK,SELENOS,SELENOT,and SELENOW and down-regulated expression of TXNRD2 and SELENON (all P<0.05).The asymptomatic patients showcased up-regulated expression of GPX2,SELENOI,SELENOO,SELENOS,SELENOT,and SELENOW and down-regulated expression of SELP (all P<0.05).The results of multivariate Logistic regression analysis showed that the abnormally high expression of GPX1 (OR=0.067,95%CI=0.005-0.904,P=0.042) and SELENON (OR=56.663,95%CI=3.114-856.999,P=0.006) was the risk factor for symptomatic COVID-19,and the abnormally high expression of SELP was a risk factor for asymptomatic COVID-19 (OR=15.000,95%CI=2.537-88.701,P=0.003).Conclusions Selenoprotein genes with differential expression are involved in the regulation of COVID-19 development.The findings provide a new reference for the prevention and treatment of COVID-19.

PMID:38953254 | DOI:10.3881/j.issn.1000-503X.15834

J Anim Ecol. 2024 Jul 2. doi: 10.1111/1365-2656.14135. Online ahead of print.

ABSTRACT

Taylor’s power law (TPL) describes the expected range of parameters of the mean-variance scaling relationship and has been extensively used in studies examining temporal variations in abundance. Few studies though have focused on biological and ecological covariates of TPL, while its statistical inherences have been extensively debated. In the present study, we focused on species-specific features (i.e. functional traits) that could be influential to temporal TPL. We combined field surveys of 180 fish species from 972 sites varying from small streams to large rivers with data on 31 ecological traits describing species-specific characteristics related to three main niche dimensions (trophic ecology, life history, and habitat use). For each species, the parameters of temporal TPL (intercept and slope) were estimated from the log-log mean-variance relationships while controlling for spatial dependencies and biological covariates (species richness and evenness). Then, we investigated whether functional traits explained variations in TPL parameters. Differences in TPL parameters among species were explained mostly by life history and environmental determinants, especially TPL slope. Life history was the main determinant of differences in TPL parameters and thereby aggregation patterns, with traits related to body size being the most influential, thus showing a high contrast between small-sized species with short lifespans and large-bodied migratory fishes, even after controlling for phylogenetic resemblances. We found that life history traits, especially those related to body size, mostly affect TPL and, as such, can be determinants of temporal variability of fish populations. We also found that statistical effects and phylogenetic resemblances are embedded in mean-variance relationships for fish, and that environmental drivers can interact with ecological characteristics of species in determining temporal fluctuations in abundance.

PMID:38953244 | DOI:10.1111/1365-2656.14135

Skin Res Technol. 2024 Jul;30(7):e13774. doi: 10.1111/srt.13774.

ABSTRACT

OBJECTIVE: Observational studies have identified a dual effect of circulating inflammatory proteins and immune cells on cancer progression. However, the specific mechanisms of action have not been clarified in the exacerbation of cutaneous-origin tumors. Therefore, this study aims to investigate whether the causal relationship between circulating inflammatory factors and basal cell carcinoma (BCC), cutaneous malignant melanoma (SKCM), and cutaneous squamous cell carcinoma (cSCC) is regulated by immune cells.

METHODS: This study employed the Two-Sample Mendelian Randomization (TSMR) approach to investigate the causal relationships between 91 circulating inflammatory factors and three prevalent types of skin cancer from a genetic perspective. Bayesian Weighted Mendelian Randomization (BWMR) was also used to validate correlation and reverse MR to assess inverse relationships. Subsequent sensitivity analyses were conducted to limit the impact of heterogeneity and pleiotropy. Finally, the two-step Mendelian Randomization (two-step MR) method was utilized to ascertain the mediating effects of specific immune cell traits in the causal pathways linking circulating inflammatory factors with BCC, SKCM, and cSCC.

RESULTS: The Inverse Variance Weighted (IVW) method and the Bayesian Weighted Algorithm collectively identified nine inflammatory factors causally associated with BCC, SKCM, and cSCC. The results from Cochran’s Q test, mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO), and MR-Egger intercept were not statistically significant (p < 0.05). Additionally, the proportions mediated by CD4+ CD8dim T cell %leukocyte, CD4-CD8-Natural Killer T %T cell, and CD20 on IgD-CD38-B cell for FIt3L, CCL4, and OSM were 9.26%, 8.96%, and 10.16%, respectively.

CONCLUSION: Immune cell levels potentially play a role in the modulation process between circulating inflammatory proteins and cutaneous-origin exacerbated tumors. This finding offers a new perspective for the in-depth exploration of cutaneous malignancies.

PMID:38953214 | DOI:10.1111/srt.13774