Relationship between serum uric acid levels and pulmonary embolism: an age-based stratified analysis.

BACKGROUND: The association between uric acid and pulmonary embolism(PE) remains controversial, and there has been limited investigation into how uric acid influences pulmonary embolism across different age groups. Our study aimed to elucidate the relationship between uric acid levels and pulmonary embolism, considering variations across age groups. METHODS: A total of 368 patients who underwent computed tomography pulmonary angiography from July 2018 to May 2022 were included in the analysis. Subsequently, the cohort was stratified by age, with separate univariate and multivariate logistic regression analyses conducted for the elderly (aged ≥ 60 years) and non-elderly (aged < 60 years), respectively. RESULTS: The study revealed that patients with PE exhibited higher uric acid levels compared to those without (325.11 ± 137.02 vs. 298.26 ± 110.54 (umol/l), p = 0.039). This disparity persisted even after adjusting for multiple confounders (OR = 1.002, 95% CI 1.000-1.005, p = 0.042). Additionally, a notable age difference was observed between PE and non-PE patients (65.7 ± 16.12 vs. 61.42 ± 15.03 (umol/l), p = 0.009). Subsequently, upon age stratification, significant differences (p < 0.05) in serum uric acid were noted between PE and non-PE patients in both elderly and non-elderly populations. However, elevated uric acid levels were independently associated with PE only in the elderly following adjustment for multiple confounders (OR = 1.003, 95% CI 1.001-1.005, p = 0.008). CONCLUSION: High uric acid levels are an independent risk factor for pulmonary embolism in the elderly (≥ 60 years).

Development and validation of a simple clinical nomogram for predicting obstructive sleep apnea.

Obstructive sleep apnea is the most common type of sleep breathing disorder. Therefore, the purpose of our research is to construct and verify an objective and easy-to-use nomogram that can accurately predict a patient's risk of obstructive sleep apnea. In this study, we retrospectively collected the data of patients undergoing polysomnography at the Sleep Medicine Center of the First Affiliated Hospital of Guangzhou Medical University. Participants were randomly assigned to a training cohort (50%) and a validation cohort (50%). Logistic regression and Lasso regression models were used to reduce data dimensions, select factors and construct the nomogram. C-index, calibration curve, decision curve analysis and clinical impact curve analysis were used to evaluate the identification, calibration and clinical effectiveness of the nomogram. Nomograph validation was performed in the validation cohort. The study included 1035 people in the training cohort and 1078 people in the validation cohort. Logistic and Lasso regression analysis identified age, gender, diastolic blood pressure, body mass index, neck circumference and Epworth Sleepiness Scale as the predictive factors included in the nomogram. The training cohort (C-index = 0.741) and validation cohort (C-index = 0.745) had better identification and calibration effects. The areas under the curve of the nomogram and STOP-Bang were 0.741 (0.713-0.767) and 0.728 (0.700-0.755), respectively. Decision curve analysis and clinical impact curve analysis showed that the nomogram is clinically useful. We have established a concise and practical nomogram that will help doctors better determine the priority of patients referred to the sleep centre.

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report.

BACKGROUND: Deficiency of natural anticoagulant antithrombin was first reported as a genetic risk factor for venous thromboembolism, antithrombin III (AT III) is encoded by the serpin family C member 1 (SERPINC1) gene, consisting of 432 amino acids, including 3 disulfide bonds and 4 possible glycosylation sites. Studies have shown that hereditary AT deficiency increases the incidence of venous thromboembolism by up to 20 times. CASE PRESENTATION: The case presented a 27-year-old young man with no acquired risk factors and a sudden onset of right lower extremity venous thrombosis and pulmonary embolism. A heterozygous mutation in gene SERPINC1 of c.1154-14G>A was detected in the patient, which is a deleterious mutation resulting in reduced AT III activity and increased risk of thrombotic events. The patient received anticoagulant therapy for approximately 5 months, and the thrombus gradually dissolved and no recurrent thrombotic events occurred during follow-up. DISCUSSION: AT deficiency is a rare autosomal dominant genetic disease, they are mainly divided into 2 types according to the different effects on the structure or function of the encoded protein. The patient had a mutation in the SERPINC1 gene (c.1154-14G>A). Several cases of this type of mutation have been reported since 1991, and it is classified as AT deficiency type I. CONCLUSION: Thrombosis in patients with antithrombin deficiency is often unpredictable and can lead to fatal pulmonary embolism. Early genetic testing for hereditary thrombophilia in venous thromboembolism patients without obvious high-risk factors is critical. Long-term anticoagulation treatment is an effective treatment, for this type of type I AT III deficiency combined with pulmonary embolism patients, warfarin is an effective anticoagulant drug.

Construction and validation of risk prediction models for pulmonary embolism in hospitalized patients based on different machine learning methods.

Objective: This study aims to apply different machine learning (ML) methods to construct risk prediction models for pulmonary embolism (PE) in hospitalized patients, and to evaluate and compare the predictive efficacy and clinical benefit of each model. Methods: We conducted a retrospective study involving 332 participants (172 PE positive cases and 160 PE negative cases) recruited from Guangdong Medical University. Participants were randomly divided into a training group (70%) and a validation group (30%). Baseline data were analyzed using univariate analysis, and potential independent risk factors associated with PE were further identified through univariate and multivariate logistic regression analysis. Six ML models, namely Logistic Regression (LR), Decision Tree (DT), Random Forest (RF), Naive Bayes (NB), Support Vector Machine (SVM), and AdaBoost were developed. The predictive efficacy of each model was compared using the receiver operating characteristic (ROC) curve analysis and the area under the curve (AUC). Clinical benefit was assessed using decision curve analysis (DCA). Results: Logistic regression analysis identified lower extremity deep venous thrombosis, elevated D-dimer, shortened activated partial prothrombin time, and increased red blood cell distribution width as potential independent risk factors for PE. Among the six ML models, the RF model achieved the highest AUC of 0.778. Additionally, DCA consistently indicated that the RF model offered the greatest clinical benefit. Conclusion: This study developed six ML models, with the RF model exhibiting the highest predictive efficacy and clinical benefit in the identification and prediction of PE occurrence in hospitalized patients.

A comprehensive analysis of genes associated with hypoxia and cuproptosis in pulmonary arterial hypertension using machine learning methods and immune infiltration analysis: AHR is a key gene in the cuproptosis process.

Background: Pulmonary arterial hypertension (PAH) is a serious condition characterized by elevated pulmonary artery pressure, leading to right heart failure and increased mortality. This study investigates the link between PAH and genes associated with hypoxia and cuproptosis. Methods: We utilized expression profiles and single-cell RNA-seq data of PAH from the GEO database and genecad. Genes related to cuproptosis and hypoxia were identified. After normalizing the data, differential gene expression was analyzed between PAH and control groups. We performed clustering analyses on cuproptosis-related genes and constructed a weighted gene co-expression network (WGCNA) to identify key genes linked to cuproptosis subtype scores. KEGG, GO, and DO enrichment analyses were conducted for hypoxia-related genes, and a protein-protein interaction (PPI) network was created using STRING. Immune cell composition differences were examined between groups. SingleR and Seurat were used for scRNA-seq data analysis, with PCA and t-SNE for dimensionality reduction. We analyzed hub gene expression across single-cell clusters and built a diagnostic model using LASSO and random forest, optimizing parameters with 10-fold cross-validation. A total of 113 combinations of 12 machine learning algorithms were employed to evaluate model accuracy. GSEA was utilized for pathway enrichment analysis of AHR and FAS, and a Nomogram was created to assess risk impact. We also analyzed the correlation between key genes and immune cell types using Spearman correlation. Results: We identified several diagnostic genes for PAH linked to hypoxia and cuproptosis. PPI networks illustrated relationships among these hub genes, with immune infiltration analysis highlighting associations with monocytes, macrophages, and CD8 T cells. The genes AHR, FAS, and FGF2 emerged as key markers, forming a robust diagnostic model (NaiveBayes) with an AUC of 0.9. Conclusion: AHR, FAS, and FGF2 were identified as potential biomarkers for PAH, influencing cell proliferation and inflammatory responses, thereby offering new insights for PAH prevention and treatment.

The Association between Obstructive Sleep Apnea and Venous Thromboembolism: A Bidirectional Two-Sample Mendelian Randomization Study.

BACKGROUND: Despite previous observational studies linking obstructive sleep apnea (OSA) to venous thromboembolism (VTE), these findings remain controversial. This study aimed to explore the association between OSA and VTE, including pulmonary embolism (PE) and deep vein thrombosis (DVT), at a genetic level using a bidirectional two-sample Mendelian randomization (MR) analysis. METHODS: Utilizing summary-level data from large-scale genome-wide association studies in European individuals, we designed a bidirectional two-sample MR analysis to comprehensively assess the genetic association between OSA and VTE. The inverse variance weighted was used as the primary method for MR analysis. In addition, MR-Egger, weighted median, and MR pleiotropy residual sum and outlier (MR-PRESSO) were used for complementary analyses. Furthermore, a series of sensitivity analyses were performed to ensure the validity and robustness of the results. RESULTS: The initial and validation MR analyses indicated that genetically predicted OSA had no effects on the risk of VTE (including PE and DVT). Likewise, the reverse MR analysis did not find substantial support for a significant association between VTE (including PE and DVT) and OSA. Supplementary MR methods and sensitivity analyses provided additional confirmation of the reliability of the MR results. CONCLUSION: Our bidirectional two-sample MR analysis did not find genetic evidence supporting a significant association between OSA and VTE in either direction.

Development and validation of a genomic nomogram based on a ceRNA network for comprehensive analysis of obstructive sleep apnea.

Objectives: Some ceRNA associated with lncRNA have been considered as possible diagnostic and therapeutic biomarkers for obstructive sleep apnea (OSA). We intend to identify the potential hub genes for the development of OSA, which will provide a foundation for the study of the molecular mechanism underlying OSA and for the diagnosis and treatment of OSA. Methods: We collected plasma samples from OSA patients and healthy controls for the detection of ceRNA using a chip. Based on the differential expression of lncRNA, we identified the target genes of miRNA that bind to lncRNAs. We then constructed lncRNA-related ceRNA networks, performed functional enrichment analysis and protein-protein interaction analysis, and performed internal and external validation of the expression levels of stable hub genes. Then, we conducted LASSO regression analysis on the stable hub genes, selected relatively significant genes to construct a simple and easy-to-use nomogram, validated the nomogram, and constructed the core ceRNA sub-network of key genes. Results: We successfully identified 282 DElncRNAs and 380 DEmRNAs through differential analysis, and we constructed an OSA-related ceRNA network consisting of 292 miRNA-lncRNAs and 41 miRNA-mRNAs. Through PPI and hub gene selection, we obtained 7 additional robust hub genes, CCND2, WT1, E2F2, IRF1, BAZ2A, LAMC1, and DAB2. Using LASSO regression analysis, we created a nomogram with four predictors (CCND2, WT1, E2F2, and IRF1), and its area under the curve (AUC) is 1. Finally, we constructed a core ceRNA sub-network composed of 74 miRNA-lncRNA and 7 miRNA-mRNA nodes. Conclusion: Our study provides a new foundation for elucidating the molecular mechanism of lncRNA in OSA and for diagnosing and treating OSA.

Aetiological distribution of pulmonary hypertension and the value of transthoracic echocardiography screening in the respiratory department: A retrospective analysis from China.

METHODS: The aetiological composition and clinical characteristics of patients with pulmonary hypertension (PH) hospitalised in the respiratory department were retrospectively analysed, as well as the correlation between transthoracic echocardiography (TTE) and right heart catheterization (RHC) for evaluating pulmonary artery systolic pressure (PASP) and mean pulmonary artery pressure (mPAP). RESULTS: Of 731 patients, 544 (74.42%) were diagnosed with PH by RHC. Pulmonary arterial hypertension (PAH) was the most common type of PH, accounting for 30.10%; PH due to lung disease and/or hypoxia accounted for 20.79%, and PH due to pulmonary artery obstructions accounted for 19.29%. TTE has the highest specificity for diagnosing PH due to pulmonary artery obstructions. The specificity was 0.9375, the sensitivity was 0.7361 and the area under the ROC curve (AUC) was 0.836. PASP, and mPAP estimated by TTE were different for various types of PH. In terms of PASP, TTE overestimated PASP in PH due to lung disease and/or hypoxia, but there was no significant difference compared with RHC (P > 0.05). TTE underestimates PAH patients' PASP compared with RHC. In terms of mPAP, TTE underestimated the mPAP of all types of PH, as there was a significant difference in the TTE-estimated mPAP of patients with PAH compared with RHC but not on other types of PH. Pearson correlation analysis of TTE and RHC showed a moderate overall correlation (rPASP 0.598, P < 0.001; rmPAP 0.588, P < 0.001). CONCLUSIONS: Among the patients with PH in the respiratory department, patients with PAH accounted for the majority. TTE has high sensitivity and specificity for the diagnosis of PH due to pulmonary artery obstructions in the respiratory department.

A Meta-analysis of the efficacy of pulmonary artery denervation in the treatment of pulmonary hypertension.

BACKGROUND: Pulmonary hypertension (pH) is a progressive and fatal disease with poor long-term prognosis and high mortality. Although great progress has been made in current treatment methods, the survival rate is still poor. Therefore, we need to find an effective treatment for pH. OBJECTIVE: pH is a type of refractory, progressive, and fatal pulmonary vascular disease which involves a variety of clinical conditions and may complicate most cardiovascular and respiratory diseases. Pulmonary artery denervation (PADN) therapy for pH has become the current trend, but its clinical application still faces a series of problems, and its efficacy remains controversial. The purpose of the study is to evaluate the literature on the effects of PADN for pH. METHOD: The PubMed, Embase, and Web of Science databases were searched by two researchers until April 9th, 2021. The literature was read and screened, and effective data(6-minute walking distance, cardiac output, mPAP, PVR,Left ventricular end-systolic diameter,Cardiac output,Readmission rate,Mortality,Cardiac function,and so on) was extracted, collated, and analyzed. The literature was managed by Endnote 9.3 software and evaluated by RevMan 5.3 software. RESULTS: The meta-analysis included five controlled experiments with a total of 339 patients. The literature quality evaluations were all Level B. The meta-analysis results showed that compared with the control group, PADN treatment could improve the 6-minute walking distance of pH patients [WMD = 103.72, 95%CI (49.63, 157.82), P < 0.05], reduce mean pulmonary artery pressure (mPAP) [WMD = -7.26, 95%CI (-10.86, -3.66), P < 0.05], reduce pulmonary vascular resistance (PVR) [WMD = -4.53, 95%CI (-8.23, -0.83), P < 0.05], and improve cardiac output [WMD = 0.48, 95%CI (0.23, 0.73), P < 0.05]. There was no significant effect on the left ventricular end-systolic diameter [WMD = -0.13, 95%CI (-0.49, 0.24), P > 0.05], readmission rate [OR = 0.14, 95%CI (0.01, 1.87), P > 0.05], mortality rate [OR = 0.77, 95%CI (0.22, 2.69), P > 0.05], or cardiac function [OR = 0.32, 95%CI (0.05, 2.10), P > 0.05]. CONCLUSION: PADN is an effective method for the treatment of pH which is worthy of clinical promotion.

The influence of sex on anthropometric methods and four scales for screening obstructive sleep apnea.

OBJECTIVES: Obstructive Sleep Apnea (OSA) is a kind of respiratory disease that occurs apnea repeatedly during sleep. The purpose of this study was to investigate the influence of sex on anthropometric methods and four scales for screening OSA. METHODS: The basic data and PSG data of 2108 patients who underwent PSG examination at the Sleep Medicine Center of the First Affiliated Hospital of Guangzhou Medical University from July 2017 to December 2020 were continuously included. Then the sensitivity, specificity, positive predictive value, negative predictive value, AUC and DOR of the anthropometric method and the four scales were calculated. RESULTS: 2108 OSA patients were enrolled from the Sleep Medicine Center, including 1644 males (78.0%). The average neck circumference and waist circumference of male and female patients were respectively (39.4±3.4) cm and (96.7±13.8) cm,(34.6±3.5) cm and (90.1±11.6) cm. In female patients. the AUC of NoSAS was the largest. When AHI was 5, 15, and 30 evens/h as the cut-off point, in male patients, the sensitivity of NHR was the highest,in female patients, the sensitivity of WHR was the highest. CONCLUSIONS: NHR and WHR are good tools for screening OSA in male and female patients respectively. They are worthy of promotion.

A meta-analysis of the relationship between polycystic ovary syndrome and sleep disturbances risk.

Objective: A meta-analysis is used to explore the relationship between polycystic ovary syndrome (PCOS) and the risk of Sleep disturbances. Method: Cochrane Library, PubMed, Embase, and Web of Science databases are searched by computer from their establishment to 1 May 2022. Review Manager 5.4 software is used for the meta-analysis. Results: A total of nine articles are included, with 1,107 subjects. The results show that PCOS is positively associated with the risk of Sleep disturbances. Comparing with the "PCOS group" (experimental group) with the "NON-PCOS group" (control group), the incidence of Sleep disturbances is higher (OR = 11.24, 95% CI: 2.00-63.10, Z = 2.75, p = 0.006); the Pittsburgh Sleep Quality Index (PSQI) scores of the PCOS group is higher than that of the NON-PCOS group (MD = 0.78, 95% CI: 0.32-1.25, Z = 3.30, p = 0.001); the Epworth Sleepiness Scale (ESS) scores of the PCOS group is higher than that of the NON-PCOS group (MD = 2.49, 95% CI: 0.80-4.18, Z = 2.88, p = 0.004); Apnea hypopnea index (AHIs) in the PCOS group are higher than those in the NON-PCOS group (MD = 2.68, 95% CI: 1.07-4.28, Z = 3.27, p = 0.001); the sleep efficiency of the PCOS group is lower than that of the NON-PCOS group (MD = -5.16, 95% CI: 9.39--0.93, Z = 2.39, p = 0.02); the sleep onset latency of the PCOS group is higher than that of the NON-PCOS group (MD = 2.45, 95% CI: 1.40-3.50, Z = 4.57, p < 0.001); and the Rapid Eyes Movement (REM) sleep in the PCOS group is higher than that in the NON-PCOS group (MD = 17.19, 95% CI: 11.62-55.76, Z = 6.05, p < 0.001). The studies included in each analysis have publication biases of different sizes. After subgroup analysis and sensitivity analysis, the heterogeneity of each study in the meta-analysis is reduced, the bias is reduced accordingly, and the stability of the results can be maintained. Conclusion: PCOS is positively associated with the risk of Sleep disturbances. In order to reduce such risk, attention should be paid to the role of PCOS management, and PCOS prevention and treatment should be actively carried out.

Association of Obstructive Sleep Apnea-Hypopnea Syndrome with hearing loss: A systematic review and meta-analysis.

Objective: This study seeks to investigate the relationship between Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) and hearing impairment by meta-analysis. Methods: Cochrane Library, PubMed, Embase, Web of Science and other databases are searched from their establishment to July 1st, 2022. Literature on the relationship between OSAHS and hearing loss is collected, and two researchers independently perform screening, data extraction and quality evaluation on the included literature. Meta-analysis is performed using RevMan 5.4.1 software. According to the heterogeneity between studies, a random-effects model or fixed-effects model is used for meta-analysis. Results: A total of 10 articles are included, with 7,867 subjects, 1,832 in the OSAHS group and 6,035 in the control group. The meta-analysis shows that the incidence of hearing impairment in the OSAHS group is higher than in the control group (OR = 1.38; 95% CI 1.18-1.62, Z = 4.09, P < 0.001), and the average hearing threshold of OSAHS patients is higher than that of the control group (MD = 5.89; 95% CI 1.87-9.91, Z = 2.87, P = 0.004). After stratifying the included studies according to hearing frequency, the meta-analysis shows that the OSAHS group has a higher threshold of 0.25, and the response amplitudes at frequencies 2, 4, 6, and 8 kHz are all higher than those of the control group. Conclusion: Compared with the control group, the OSAHS group has a higher incidence of hearing loss, mainly high-frequency hearing loss. Thus, OSAHS is closely associated with and a risk factor for hearing loss.

Comparison of six assessment tools to screen for obstructive sleep apnea in patients with hypertension.

BACKGROUND: Obstructive sleep apnea (OSA) is often accompanied by other complications, especially hypertension. HYPOTHESIS: The purpose of this study is to compare the application value of six tools in the screening of OSA in patients with hypertension. Compared with other questionnaires, we hypothesized that Berlin performed better in screening hypertensive patients suspected of OSA. METHODS: In this study, we collected the basic data and polysomnography (PSG) data of patients diagnosed with hypertension who underwent PSG at the Sleep Medicine Center of the First Affiliated Hospital of Guangzhou Medical University from April 2012 to March 2021. The sensitivity, specificity, positive predictive value, negative predictive value, area under the curv (AUC) and diagnostic odds ratio (DOR) of the six screening tools were then calculated, and their correlation with the sleep apnea hypopnea index (AHI) analyzed. RESULTS: There were 303 males (303/398, 76.1%) out of 398 hypertension patients suspected of OSA. The area under the curve of the Berlin questionnaire's receiver operating characteristic (ROC) curve reached 0.753 (95%CI: 0.707-0.794). When the AHI was 5, 15 and 30 times/h as the cut-off points, the sensitivity and negative predictive value of Berlin were the highest at 0.947 and 0.630, 0.970 and 0.851, and 0.988 and 0.957 respectively, while the specificity and positive predictive value of the Epworth Sleepiness Scale (ESS) were the highest at 0.696 and 0.729, 0.750 and 0.887, and 0.674 and 0.575 respectively. The DOR value of the Berlin questionnaire could reach 18.333 when the AHI cut-off point was 30 times/h. Berlin had the largest rank correlation coefficient with AHI at 0.466. CONCLUSION: The Berlin questionnaire can be considered a priority for the screening and stratifying of hypertensive patients suspected of OSA.