Efficacy and safety of topical tranexamic acid in spinal surgery: a systematic review and meta-analysis.

Purpose: This study aimed to assess the effects of topical tranexamic acid (tTXA) in spinal surgery to provide reliable clinical evidence for its usefulness. Methods: The PubMed, EMBASE, Medline, and Cochrane Central Register of Controlled Trials databases were comprehensively searched to identify randomized controlled trials and non-randomized controlled trials evaluating the effect of tTXA on blood loss during spine surgery. The observation indexes were intraoperative blood loss, total blood loss, output and duration of postoperative drainage, postoperative hematological variables, length of postoperative hospital stay, blood transfusion rate, and complication rate. Results: A total of 21 studies involving 1774 patients were included. Our results showed that the use of tTXA during spinal surgery significantly reduced the total blood loss, postoperative drainage volume, postoperative transfusion rate, duration of postoperative drainage, and postoperative hospital stay, and increased the serum hemoglobin concentration, thereby providing better clinical outcomes for surgical patients. However, tTXA had no effect on intraoperative blood loss and associated complications. Conclusion: On the basis of the available evidence, the present results provide strong clinical evidence of the clinical value of tTXA in spinal surgery and provide an important reference for future research and clinical decision-making.

3D-CT reconstruction for pedicle outer width assessment in patients with thoracolumbar spine fractures: a comparative analysis between age groups <60 years and ≥60 years.

Objective: This study aims to compare the utilization of 3D-CT reconstruction in measuring pedicle outer width (POW) between younger/middle-aged patients (<60 years) and older patients (≥60 years) with thoracolumbar spine fractures (TSF). Methods: We conducted a retrospective study from January 2021 to December 2022, involving a total of 108 patients with TSF. The study population consisted of 62 patients aged ≥60 years (observation group) and 46 patients aged <60 years (control group). We compared the POW on both the right and left sides of the thoracolumbar spine between the two groups. Additionally, we analyzed the POW by gender within each group and calculated the incidence of patients falling below the critical values for arch root puncture (5 mm) and arch root nailing (7 mm) in both groups. Results: There were no statistically significant differences observed in the POW between the two groups on both the left and right sides of each corresponding vertebra (P > 0.05). In the observation group, both male and female patients had significantly smaller POW compared to the control group (P < 0.05). However, no significant difference in POW was observed between the same-sex groups in the L4 to L5 vertebrae (P > 0.05). In the observation group, the POW was less than 5 mm in 9.33% (81/868) of cases and less than 7 mm in 49.88% (433/868) of cases, primarily observed from T11 to L3. In the control group, 4.81% (31/644) of cases had a POW of less than 5 mm, and 13.81% (88/644) had a POW of less than 7 mm. Conclusion: Utilizing preoperative 3D-CT reconstruction to measure POW in patients with TSF not only facilitates the assessment of surgical feasibility but also aids in surgical pathway planning, thus potentially reducing the incidence of postoperative complications.

Benefit assessment of novel systemic therapies for bone and soft tissue sarcomas: a cross-sectional study.

BACKGROUND: Bone and soft tissue sarcomas are rare malignancies, and their heterogeneity has limited the development of novel drugs. This study aimed to apply two validated tools to evaluate the clinical benefits of novel drug therapies for sarcoma developed over the last decade. METHODS: The PubMed and Embase databases were searched for randomized controlled trials (RCTs) of systemic therapies for sarcomas published between 2013 and 2023. Each trial was scored according to the European Society of Medical Oncology-Magnitude of Clinical Benefit Scale version 1.1 (ESMO-MCBS) and the American Society of Clinical Oncology-Value Framework version 2 (ASCO-VF). RESULTS: We included 52 RCTs in this study, of which 17 (32.7%) reported positive results that favored the experimental arm. The ESMO-MCBS grades were determined in 14/17 positive trials, and three of them (21.4%) met the threshold for meaningful clinical benefit. Likewise, ASCO-VF scores were calculated for 11/17 positive trials, and three of them (27.3%) met the threshold for meaningful clinical benefit. Weak correlation (r = 0.38, P = 0.277) and agreement (κ = 0.211, P = 0.490) were observed between the two frameworks. CONCLUSION: Only a few RCTs with positive results have demonstrated substantial patient benefits for bone and soft tissue sarcomas over the past decade.

Systematic review and meta-analysis of single-stage versus two-stage revision for periprosthetic joint infection after knee arthroplasty: a call for a randomised trial.

Purpose: Knee arthroplasty is an effective treatment for severe knee degeneration; however, periprosthetic joint infection (PJI) is one of its serious complications. Single- and two-stage revision are common treatments, but few studies have compared single- and two-stage revision for PJI after knee arthroplasty. This study aimed to compare the reinfection and reoperation rates of single- and two-stage revision through meta-analysis. Methods: The review process was conducted according to the PRISMA guidelines. We searched the PubMed, Medline, Embase and Cochrane Central Register of Controlled Trials databases for trials comparing single- and two-stage revision for PJI after knee arthroplasty from the respective inception dates to April 2023. Two researchers individually screened the studies, performed the literature quality evaluation and data extraction and used Stata 17 software for data analysis. Results: The meta-analysis showed that the reinfection rate was significantly lower in the single-stage revision group than in the two-stage revision group. While the reoperation rates demonstrated no statistically significant difference between the two groups. We presented descriptive results because the discrepancies in the knee function scores and data reported in the studies meant that these data could not be combined in the meta-analysis. Conclusion: Based on the available research, single-stage revision is a reliable option for PJI after knee arthroplasty. However, when developing the best treatment strategy, it is still necessary to consider the individual circumstances and needs of the patient, as well as the risks of postoperative rehabilitation and complications.

Development and validation of a nomogram integrating marital status for 5-year overall survival of chondrosarcoma: a population-based study.

OBJECTIVES: The objective of this study was to evaluate the influence of marital status on overall survival (OS) and develop a nomogram for predicting 5-year OS in chondrosarcoma (CHS) patients. METHODS: We utilized the Surveillance, Epidemiology, and End Results (SEER) database to identify CHS patients diagnosed between 2010 and 2018. Survival rates were calculated using Kaplan-Meier analysis. Prognostic factors were identified through univariate and multivariate analyses. An independent cohort was used for external validation of the nomogram. Performance evaluation of the nomogram was conducted using Harrell's concordance index (C-index), calibration plot, and decision curve analysis (DCA). RESULTS: In the SEER cohort, Kaplan-Meier analysis showed significant differences in OS among CHS patients with different marital statuses (P < 0.001), with widowed patients having the lowest OS. In terms of gender, there were significant survival differences based on marital status in females (P < 0.001), but not in males (P = 0.067). The OS of married and single females is significantly higher than that of married (P < 0.001) and single male (P = 0.006), respectively. Kaplan-Meier curves showed no significant difference in OS between groups stratified by either gender or marital status in the external cohort. Univariate and multivariate analyses confirmed that age at diagnosis, gender, marital status, tumor size, histological type, tumor grade, SEER stage, and surgery were independent prognostic factors for OS. The nomogram demonstrated high internal and external validation C-indexes of 0.818 and 0.88, respectively. Calibration plots, DCA curve, and Kaplan-Meier curve (P < 0.001) confirmed the excellent performance and clinical utility of the nomogram. CONCLUSIONS: Marital status was an independent factor influencing OS in CHS patients, with widowed patients having the worst prognosis. The OS of both married and single females is significantly higher than that of their male counterparts. However, these findings require further validation in a large independent cohort. While the contribution of marital status on predicting OS appears modest, our nomogram accurately predicted 5-year OS and identified high-risk groups, providing a valuable tool for clinical decision-making.

Efficacy and safety of tranexamic acid in cervical spine surgery: a systematic review and meta-analysis.

Background: Tranexamic acid (TXA) is an antifibrinolytic drug associated with reduced blood loss in a range of surgical specialties. This meta-analysis aimed to compare the efficacy and safety of TXA in cervical surgery, focusing on its effects on intraoperative blood loss and related outcomes. Methods: We searched the PubMed, EMBASE, Medline, and Cochrane Library databases to identify all literature related to TXA used in cervical spinal surgery. Intraoperative blood loss, postoperative drainage volume, total blood loss, postoperative hematological variables, and complications were analyzed. Results: Eight trials met the inclusion criteria. The pooled results showed that intraoperative blood loss, total blood loss, and postoperative drainage volume were significantly lower in the TXA group than in the control group. The hemoglobin and hematocrit on postoperative day 1 was significantly higher in the TXA group than in the control group. There was no significant difference in complications between the two groups. Conclusion: The available evidence indicates that TXA effectively reduces blood loss in cervical spinal surgery while maintaining a favorable safety profile, without increasing associated risks. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier CRD42023459652.

Establishment and validation of a nomogram for predicting overall survival of upper-tract urothelial carcinoma with bone metastasis: a population-based study.

BACKGROUND: Bone metastasis (BM) carries a poor prognosis for patients with upper-tract urothelial carcinoma (UTUC). This study aims to identify survival predictors and develop a prognostic nomogram for overall survival (OS) in UTUC patients with BM. METHODS: The Surveillance, Epidemiology, and End Results database was used to select patients with UTUC between 2010 and 2019. The chi-square test was used to assess the baseline differences between the groups. Kaplan-Meier analysis was employed to assess OS. Univariate and multivariate analyses were conducted to identify prognostic factors for nomogram establishment. An independent cohort was used for external validation of the nomogram. The discrimination and calibration of the nomogram were evaluated using concordance index (C-index), area under receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA). All statistical analyses were performed using SPSS 23.0 and R software 4.2.2. RESULTS: The mean OS for UTUC patients with BM was 10 months (95% CI: 8.17 to 11.84), with 6-month OS, 1-year OS, and 3-year OS rates of 41%, 21%, and 3%, respectively. Multi-organ metastases (HR = 2.21, 95% CI: 1.66 to 2.95, P < 0.001), surgery (HR = 0.72, 95% CI: 0.56 to 0.91, P = 0.007), and chemotherapy (HR = 0.37, 95% CI: 0.3 to 0.46, P < 0.001) were identified as independent prognostic factors. The C-index was 0.725 for the training cohort and 0.854 for the validation cohort, and all AUC values were > 0.679. The calibration curve and DCA curve showed the accuracy and practicality of the nomogram. CONCLUSIONS: The OS of UTUC patients with BM was poor. Multi-organ metastases was a risk factor for OS, while surgery and chemotherapy were protective factors. Our nomogram was developed and validated to assist clinicians in evaluating the OS of UTUC patients with BM.

Increased risk of osteoporosis in patients with cognitive impairment: a systematic review and meta-analysis.

BACKGROUND: Both osteoporosis and cognitive impairment affect overall health in elderly individuals. This study aimed to investigate the association between cognitive impairment and the risk of osteoporosis. METHODS: PubMed, Web of Science, and the Cochrane Library were searched for studies on the association between osteoporosis and cognitive impairment from their inception until August 2023. The random-effects model was used to calculate the pooled risk ratio (RR) of osteoporosis in patients with cognitive impairment. Subgroup analysis was used to detect the sources of heterogeneity. Sensitivity analysis was used to test the robustness of the pooled results. Funnel plots, Egger's test, and Begg's test were used to test publication bias. RESULTS: Ten studies involving 9,872 patients were included in this meta-analysis. The pooled results showed that patients with cognitive impairment had an increased risk of osteoporosis (RR = 1.56, 95% confidence interval [CI]: 1.30-1.87, p < 0.001). Subgroup analysis showed that patients with Alzheimer's disease (AD) are at 1.7-fold risk of osteoporosis compared with the control group (RR = 1.70, 95% CI: 1.23-2.37, p = 0.001), and sex, cognitive classification, study region, study design, and study quality might be the sources of heterogeneity. Sensitivity analysis showed robustness of the pooled results. No significant publication bias was found (Begg's test, p = 0.474; Egger's test, p = 0.065). CONCLUSION: Current evidence suggests that patients with cognitive impairment are at increased risk of osteoporosis, especially patients with AD.

Application of graph auto-encoders based on regularization in recommendation algorithms.

Social networking has become a hot topic, in which recommendation algorithms are the most important. Recently, the combination of deep learning and recommendation algorithms has attracted considerable attention. The integration of autoencoders and graph convolutional neural networks, while providing an effective solution to the shortcomings of traditional algorithms, fails to take into account user preferences and risks over-smoothing as the number of encoder layers increases. Therefore, we introduce L1 and L2 regularization techniques and fuse them linearly to address user preferences and over-smoothing. In addition, the presence of a large amount of noisy data in the graph data has an impact on feature extraction. To our best knowledge, most existing models do not account for noise and address the problem of noisy data in graph data. Thus, we introduce the idea of denoising autoencoders into graph autoencoders, which can effectively address the noise problem. We demonstrate the capability of the proposed model on four widely used datasets and experimentally demonstrate that our model is more competitive by improving up to 1.3, 1.4, and 1.2, respectively, on the edge prediction task.

Prognostic factors and nomogram for the overall survival of bladder cancer bone metastasis: A SEER-based study.

Bone metastasis has a poor prognosis in patients with bladder cancer (BC). This study aimed to construct a prognostic nomogram for predicting the overall survival of patients with bone-metastatic BC (BMBC). The Surveillance, Epidemiology, and End Results database was used to recruit patients with BMBC between 2010 and 2018. Univariate and multivariate analyses were performed to screen for prognostic factors and construct a nomogram. Harrell concordance index, receiver operating characteristic curve, and calibration curve were used to verify the prognostic nomograms. All statistical analyses and chart formation were performed using SPSS 23.0 and R software 4.1.2. A total of 1361 patients diagnosed with BMBC were identified in the Surveillance, Epidemiology, and End Results database. Six independent prognostic factors, including marital status, histological type, T stage, other metastases, surgery, and chemotherapy, were identified and included in the nomogram construction. Among them, chemotherapy contributed the most to the prognosis in the nomogram. The concordance index of the nomogram was 0.745 and 0.753 in the training and validation groups, respectively, and all values of the area under the curve were >0.77. The calibration curves showed perfect consistency between the observed and predicted survival rates. The prognostic nomogram developed in this study is expected to become an accurate and individualized tool for predicting overall survival in patients with BMBC and providing guidance for appropriate treatment or care.

Recombinant human bone morphogenetic protein is a valid alternative to autologous bone graft for long bone non-unions: a systematic review and meta-analysis.

OBJECTIVE: To compare the efficacy of recombinant human bone morphogenetic proteins (rhBMPs) and autologous bone graft (ABG) on the healing of long bone non-union. METHODS: A systematic literature search was conducted on PubMed, Web of Science, Cochrane Library, and CNKI up to December 2021. Two authors independently screened the studies, extracted data, and assessed the quality of the trials. A Meta-analysis was performed using state software (version 12.0). RESULTS: A total of 14 studies were included in this meta-analysis. Overall, there was no significant difference between the rhBMPs group and the ABG group in terms of healing rate (RR = 1.04, 95% CI = 0.96-1.12, p = 0.365) and healing time (SMD = -0.31, 95% CI = -0.76-0.14, p = 0.175). Subgroup analysis showed rhBMPs lead to higher healing rates (RR = 1.35, 95% CI = 1.17-1.56, p < 0.001), and shorter healing time (SMD = -0.65, 95% CI = -1.08 to -0.22, p = 0.003) in the subgroup of moderate-quality studies. Sensitivity analysis proved that our conclusions were relatively robust. No significant publication bias was recognized in all studies (Begg's test, p = 0.193; Egger's test, p = 0.307). CONCLUSIONS: RhBMPs or combined with allografts bone, inorganic bone was a valid alternative to ABG for the treatment of long bone non-union.

Therapeutic effect of autologous bone grafting with adjuvant bone morphogenetic protein on long bone nonunion: a systematic review and meta-analysis.

BACKGROUND: The recombinant human bone morphogenetic protein (rhBMP) is a common graft substitute for treating cases of long bone nonunion. However, the feasibility of combining an autologous bone graft (ABG) with rhBMPs remains uncertain. Thus, this systematic review and meta-analysis aimed to evaluate the synergistic effect of ABG and rhBMPs on the healing of long bone nonunion. METHODS: A systematic literature search was performed on PubMed, Web of Science, Cochrane Library, and China National Knowledge Infrastructure. Two authors independently screened the studies, extracted data, and assessed the quality of the trials. Statistical analyses were performed using Stata 12.0. RESULTS: Of the 202 citations, five studies involving a total of 394 cases met the eligibility criteria; thus, they were included in this study. The pooled data revealed no significant differences among the groups in terms of postoperative healing rate (risk ratio [RR] = 1.01, 95% confidence interval [CI] = 0.96-1.06, P = 0.744), healing time (standardised mean difference = - 0.20, 95% CI = - 0.95-0.56, P = 0.610), and pain (RR = 1.44, 95% CI = 0.25-8.29, P = 0.681). The combination of ABG and rhBMPs resulted in good limb function (RR = 1.31, 95% CI = 1.04-1.66, P = 0.023). CONCLUSIONS: The combination of ABG and rhBMPs did not result in the healing of long bone nonunion and pain reduction. Nevertheless, it conferred good limb function. Thus, the findings in this study are insufficient to support the use of rhBMPs as an adjuvant to ABG.

Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population.

OBJECTIVE: Chronic obstructive pulmonary disease (COPD) is a complex, multifactorial, polygenic disease. The rate of occurrence of COPD in the Kashi population (Uyghur) is significantly higher than that observed nationwide. The identification of COPD-related genes in the Chinese Uyghur population could provide useful insights that could help us understand this phenomenon. Our previous whole-exome sequencing study of three Uyghur families with COPD demonstrated that 72 mutations in 55 genes might be associated with COPD; these included rs15783G > A in the anoctamin 3 (ANO3) gene/mucin 15 (MUC15) gene, rs1800517G > A in the collagen type IV alpha 4 chain (COL4A4) gene, rs11960G > A in the ribosome binding protein 1 (RRBP1) gene, and rs5516C > G in the kallikrein 1 (KLK1) gene. This case-control study aimed to further validate the association of the four mutations with COPD in the Chinese Uyghur population. METHODS: Sanger sequencing was used for the genotyping of four polymorphisms (ANO3/MUC15 rs15783, COL4A4 rs1800517, RRBP1 rs11960, and KLK1 rs5516) in 541 unrelated Uyghur COPD patients and 534 Uyghur healthy controls. We then conducted stratified analyses based on the smoking status and airflow limitation severity, to explore the correlation between selected gene polymorphisms and COPD. RESULTS: ANO3/MUC15 rs15783 and KLK1 rs5516 polymorphisms could significantly reduce COPD risk (p < 0.05), but COL4A4 rs1800517 and RRBP1 rs11960 polymorphisms were not correlated with COPD in the entire population. In a stratified analysis of smoking status, non-smokers with the ANO3/MUC15 rs15783G/G genotype (OR = 0.63, p = 0.032) or COL4A4 rs1800517 allele G (OR = 0.80, p = 0.023) had a reduced risk of COPD. Smokers with the RRBP1 rs11960A/G genotype had a lower risk of COPD (OR = 0.41, p = 0.025). The KLK1 rs5516G > C polymorphism was associated with a decreased risk of COPD (OR < 1, p < 0.05), irrespective of the smoking status of individuals. No significant association with COPD severity was observed in individuals with these four polymorphisms (p > 0.05). CONCLUSION: We identified four previously unreported mutations (ANO3/MUC15 rs15783, COL4A4 rs1800517, RRBP1 rs11960, and KLK1 rs5516) that might decrease the COPD risk in individuals with different smoking statuses in the Chinese Uyghur population. Our findings provide new light for the genetic risk factors associated with the occurrence of COPD.

SMAD3 rs36221701 T>C polymorphism impacts COPD susceptibility in the Kashi population.

Small mother against decapentaplegic (SMAD) family member 3 (SMAD3) is well correlated with the inflammatory response of chronic obstructive pulmonary disease (COPD). A previous study indicated that the single nucleotide polymorphism (SNP) rs36221701 of SMAD3 was related to the risk of inflammatory disease. Hence, given the pathogenesis of COPD is intently associated with smoking and gene polymorphism, this study aims to analyze the relationship between SMAD3 rs36221701 and COPD susceptibility, and to explore whether the interaction is related to smoking status. We studied the association between the rs36221701 and rs34307601 of SMAD3 and COPD susceptibility, a total of 541 COPD patients and 534 controls of the Uyghur population were recruited at the First People's Hospital and the village of Kashi. The interrelation of the two SNPs with the risk of COPD was determined by calculating odds ratio (OR) and 95% confidence interval (95% CI). We found a significant association between the rs36221701 and COPD risk in the non-smoking population. TC genotype showed a significant decreased association with COPD risk (OR = 0.59, 95% CI = 0.41-0.83, P < 0.05), but CC genotype can increased the COPD risk (OR > 1, P < 0.05). In addition, COPD susceptibility was not related to the genetic variations in the rs34307601 (P > 0.05). In conclusion, we confirmed that the SMAD3 rs36221701 may be associated with COPD susceptibility in the Chinese Uyghur population, especially among non-smokers. Our data provide new light for the relationship between SMAD3 gene polymorphisms and COPD susceptibility in the Chinese Uyghur population.

Identification of key genes in osteosarcoma - before and after CDK7 treatment.

BACKGROUND: Osteosarcoma is one of the most common bone tumors, with a high degree of malignancy and a poor prognosis. Recent studies have shown that THZ2, a cyclin-dependent kinase 7 inhibitor, can exhibit strong antibone tumor effects in vivo and in vitro by inhibiting transcriptional activity. In this study, by screening the differentially expressed genes (DEGs) of osteosarcoma cells before and after THZ2 treatment, it provides new possible targets for the future targeted therapy of osteosarcoma. METHODS: Download the gene expression profile of GSE134603 from the Gene Expression Omnibus database, and use the R software package "limma Geoquery" to screen DEGs. DAVID database was used for gene ontology analysis of DEGs. Use search tool for the retrieval of interacting genes online database and Cytoscape software to construct protein-protein interaction network. Use the "MCODE" plugin in Cytoscape to analyze key molecular complexes (module) of DEGs, and use the "Cluego" plugin to perform Kyoto Encyclopedia of Genes and Genomes enrichment analysis on module genes. The Hub gene is selected from the genes in DEGs that coexist in the top 30 Degree and the Kyoto Encyclopedia of Genes and Genomes pathway. RESULTS: A total of 1033 DEGs were screened, including 800 up-regulated genes and 233 down-regulated genes. Gene ontology analysis showed that cell component is the main enrichment area of DEGs, mainly in the nucleus, cytoplasm, and nucleoplasm. In addition, in molecular function analysis, DEGs are mainly enriched in the process of protein binding. In biological process analysis, changes in DEGs can also be observed in transcription and regulation using DNA as a template. Twenty-nine module genes are enriched in the Ribosome biogenesis in eukaryotes pathway. Finally, 4 key genes are drawn: essential for mitotic growth 1, U3 SnoRNP protein 3 homolog, U3 small nucleolar RNA-associated protein 15 homolog, and WD repeat domain 3. CONCLUSION: This study found that the 4 genes essential for mitotic growth 1, U3 SnoRNP protein 3 homolog, U3 small nucleolar RNA-associated protein 15 homolog, WD repeat domain 3, and the ribosome biogenesis in eukaryotes pathway play a very important role in the occurrence and development of osteosarcoma, and can become a new target for molecular targeted therapy of osteosarcoma in the future.

The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China.

BACKGROUND: Kashi city is situated near the Taklamakan desert and has a high incidence rate of chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the relationship between the SNP of the SREK1 gene locus rs74794265 and the susceptibility to COPD among the Uyghur population in Kashi, XinJiang, China. METHODS: A total of 541 patients with COPD and 534 control subjects were included in this study. Sanger sequencing was used to analyze the SNP of the SREK1 gene locus rs74794265 site. The distribution of genotypes in different genetic models between the case and control group were analyzed by logistic regression analysis after adjusting for age, sex, and smoking history. RESULTS: The SREK1 gene SNP locus rs74794265 included two genotypes, namely, C/C and C/T, of which C/C was the wildtype; The risk of COPD was significantly lower in patients with heterozygous C/T in rs74794265 [p=0.0236, OR=0.3677 (0.1547-0.8742)], and the allele frequency of T was also significantly lower in the patient group [p=0.0245, OR=0.3728 (0.1577-0.8811)]. The heterozygous C/T of rs74794265 among non-smoking COPD patients was significantly lower than other COPD patients [p=0.0298, OR=0.3217 (0.1156-0.8949)], and there was no significant correlation of the heterozygous C/T genotype in smokers. CONCLUSION: We found that the rs74794265 heterozygous C/T genotype significantly reduces the risk of COPD. The C/T genotype is likely a protective factor for COPD in the Kashi region. We speculate that the occurrence of COPD in this area is probably more related to desert climate condition and genetic factors than smoking status.

Prevalence and Risk Factors of Chronic Obstructive Pulmonary Disease in Kashi Region, Northwestern China.

OBJECTIVE: To investigate the prevalence and the risk factors of COPD in the Uyghur population in the Kashi region. METHODS: From August 2018 to March 2019, we recruited participants of Uyghur ethnicity and aged ≥40 years old from the Kashi region using a combined cluster sampling and random sampling method. We collected potential risk factors using questionnaire, and conduced lung function using a portable pulmonary function instrument. RESULTS: A total of 2963 participants were included in this analysis, of whom 1268 were males and 1695 were females. There were 504 participants with COPD, generating a prevalence of 17.01%. With the increase of age, the prevalence of COPD in different genders increased significantly. The results of different regions were χ2= 627.89, p < 0.01, indicating significant differences in the prevalence in different regions. Among them, based on the existing survey data, it is speculated that Shache county has the highest crude prevalence, but the sample size needs to be further expanded. The participants with high age, smoking, lower BMI, high waist circumference, systolic blood pressure, fried cooking and barbecue share more COPD than those who partake of fruits and vegetables in this study. CONCLUSION: The prevalence of COPD among the Uyghur population in the Kashi region is higher than the national rural average. Among them, high age, smoking, low BMI, high waist circumference, high systolic blood pressure, cooking methods that may be stir-fried and deep-fried barbecue are risk factors for COPD, and vegetable and fruit intake may be a protective factor for COPD.

Whole-Exome Sequencing Implicates the USP34 rs777591A > G Intron Variant in Chronic Obstructive Pulmonary Disease in a Kashi Cohort.

Genetic factors are important factors in chronic obstructive pulmonary disease (COPD) onset. Plenty of risk and new causative genes for COPD have been identified in patients of the Chinese Han population. In contrast, we know considerably little concerning the genetics in the Kashi COPD population (Uyghur). This study aims at clarifying the genetic maps regarding COPD susceptibility in Kashi (China). Whole-exome sequencing (WES) was used to analyze three Uyghur families with COPD in Kashi (eight patients and one healthy control). Sanger sequencing was also used to verify the WES results in 541 unrelated Uyghur COPD patients and 534 Uyghur healthy controls. WES showed 72 single nucleotide variants (SNVs), two deletions, and small insertions (InDels), 26 copy number variants (CNVs), and 34 structural variants (SVs), including g.71230620T > A (rs12449210T > A, NC_000,016.10) in the HYDIN axonemal central pair apparatus protein (HYDIN) gene and g.61190482A > G (rs777591A > G, NC_000002.12) in the ubiquitin-specific protease 34 (USP34) gene. After Sanger sequencing, we found that rs777591"AA" under different genetic models except for the dominant model (adjusted OR = 0.8559, 95%CI 0.6568-1.115, p > .05), could significantly reduce COPD risk, but rs12449210T > A was not related to COPD. In stratified analysis of smoking status, rs777591"AA" reduced COPD risk significantly among the nonsmoker group. Protein and mRNA expression of USP34 in cigarette smoke extract-treated BEAS-2b cells increased significantly compared with those in the control group. Our findings associate the USP34 rs777591"AA" genotype as a protector factor in COPD.