Prostate cancer (PCa) is one of the most common cancer among men worldwide.With the continuous development of genomics technology，a large number of studies have confirmed that different types of gene mutations affect the clinical manifestations，progression and prognosis of PCa.Tumor genomics research can go deep into the gene level to explore the causes of PCa，explore possible biomarkers，and identify potential therapeutic targets.This paper discusses the development and application of whole-exome sequencing (WES) in prostate cancer，including DNA damage repair (DDR) related gene mutations，homologous recombination repair (HRR) key gene mutations，other HRR related gene mutations，mismatch repair related gene mutations and other gene mutations，differences in PCa gene mutations between different races，and differences in localized PCa and metastatic PCa gene mutations，so as to provide reference for the stratified diagnosis and individualized treatment of PCa.

Objective: To investigate the vector control and prevention capability construction in county-level disease prevention and control institutions (CDCs) of Chongqing Municipality, so as to provide insights into the enhancement of vector control and prevention capability. Methods: Data on the establishment of vector control and prevention departments, staffing, laboratory construction, and self-evaluation of performance capability of 39 county-level CDCs in Chongqing Municipality were collected through questionnaire surveys in 2020 and 2023. The capability and changes of vector control and prevention in these CDCs were analyzed using descriptive methods. Results: Compare to 2020, the proportion of specialized vector control and prevention departments in county-level CDCs of Chongqing Municipality in 2023 increased from 10.26% to 17.95%. The number of staff engaged in vector control and prevention increased from 147 to 178. The proportions of full-time staff, permanent staff, and staff with relevant majors increased from 8.84%, 87.76% and 58.50% to 14.61%, 90.45% and 60.67%, respectively. The average laboratory areas increased from 14.49 m2 to 49.32 m2. The coverage rates of the laboratories for classification, identification and specimen storage and the laboratories for resistance determination increased from 20.51% to 61.54% and 43.59%. The coverage rates of the laboratories for the efficacy test of hygienic insecticides, the laboratories for the efficacy test of rodenticides in rooms, and the laboratories for etiology increased from 0 to 15.38%, 15.38% and 20.51%, respectively (all P<0.05). All county-level CDCs had the capabilities of population survey and density monitoring. The proportions of those with the capabilities of organizing prevention and control training, evaluating the effectiveness of vector control and prevention, and detecting pathogens carried by vectors increased from 46.15%, 30.77% and 0 to 69.23%, 53.85% and 38.46%, respectively (all P<0.05). Conclusions The set up of professional departments for vector control and prevention, the number of staff, the laboratory coverage rate, and the proportion of those with the performance capabilty in county-level CDCs in Chongqing Municipality were improved. However, it is necessary to strengthen the construction of the professional teams for vector control and prevention, and fully realize the laboratory function.

Objective:To investigate the temporal correlation between occupational stress and elevated blood pressure among petroleum workers in Xinjiang.Methods:Based on the Occupational Health Study Cohort of Petroleum Workers (OHSPIW), 1600 petroleum workers in Xinjiang who underwent occupational health examinations from May to June 2015 and December 2017 were selected as the research subjects. The occupational stress of workers was evaluated using the Occupational Roles Questionnaire (ORQ) in the Occupational Stress Inventory-Revised (OSI-R). The blood pressure measurement data of physical examination results were collected. The relationship between the ORQ total score and blood pressure was analyzed using Spearman rank correlation, and the causal time-series relationship between occupational stress and elevated blood pressure over time was analyzed by cross-lagged path analysis modelling.Results:In the baseline data of petroleum workers, the systolic blood pressure (SBP) and diastolic blood pressure (DBP) were 124.00 (119.00, 128.00) and 77.00 (73.00, 82.00) mmHg respectively, with an ORQ total score of 164.00 (154.00, 174.00) points. In the follow-up data, the SBP and DBP were 126.00 (123.00, 128.00) and 78.00 (75.00, 82.00) mmHg respectively, and the ORQ total score was 168.00 (157.00, 181.00) points. The results of the correlation analysis showed that the ORQ total score of petroleum workers was positively correlated with the levels of SBP and DBP ( P<0.05), and the ORQ total score at follow-up was negatively correlated with the baseline levels of SBP and DBP ( P<0.05). The results of the cross-lagged path analysis showed that the path coefficients from the baseline ORQ total score of petroleum workers to the follow-up SBP and DBP levels were statistically significant ( ρ=0.06, 0.06, P=0.032, 0.011). In terms of time sequence, the increase in the ORQ total score preceded the increase in the SBP and DBP levels. Conclusion:The occupational stress of petroleum workers is related to blood pressure, and the increase of occupational stress precedes the change of blood pressure. This correlation may increase the risk of hypertension among petroleum workers.

Objective To investigate the expression level of the protein inhibitor of the activated STAT2(PIAS2)gene in prostate cancer and its relationship with clinicopathological features,and the potential role of PIAS2 in reprogramming lipid metabolism in prostate cancer.Methods The Cancer Genome Atlas Program(TCGA)database and HPA immunohistochemical analysis were used to show the expression of PIAS2 protein;qRT-PCR,Western bolt and immunohistochemistry were used to detect PIAS2 in prostate cancer tissues and their paracancerous tissues.PIAS2 expression in prostate cancer tissues and its paracancerous tissues and analyzed its relationship with clinicopathological features of patients;lentivirus infected prostate cancer cell line PC-3M,which stably knocked down PIAS2,was analyzed by ultra performance liquid chromatography mass spectrometry(UPLC-MS)for lipidomics.Results TCGA analysis showed that the expression of PIAS2 in prostate cancer tissues was higher than that in paracancerous tissues,and HPA immunohistochemistry analysis showed that PIAS2 protein was highly expressed in prostate cancer tissues;the expression of PIAS2 mRNA and protein was significantly elevated in prostate cancer compared with that in paracancerous tissues,and the difference was statistically significant(P<0.05);immunohistochemistry showed that PIAS2 protein Expression of PIAS2 protein was mainly localized in the nucleus of prostate,and the AOD value of prostate cancer tissues was significantly higher than that of paraneoplastic tissues:the results of clinicopathological parameters showed that PIAS2 had correlation with Gleason score and TNM stage(P<0.05),while there was no statistically significant correlation with the age of the patients,PSA and lymph node metastasis;UPLC-MS analysis suggested that the knockdown of PIAS2 affected 10 lipid changes,with down-regulation of phosphatidylcholine and phosphatidylethanolamine and up-regulation of phosphatidylinosi-tol,phosphatidylserine,diacylglycerol,and triacylglycerol in the shPIAS2 group compared with the shNC group.Conclusions The expression of PIAS2 protein was significantly elevated in prostate cancer tissues,suggesting that PIAS2 is associated with the development of prostate cancer,and its pathogenesis may be related to the abnormal lipid metabolism of prostate cancer.

Objective:To investigate the temporal correlation between occupational stress and elevated blood pressure among petroleum workers in Xinjiang.Methods:Based on the Occupational Health Study Cohort of Petroleum Workers (OHSPIW), 1600 petroleum workers in Xinjiang who underwent occupational health examinations from May to June 2015 and December 2017 were selected as the research subjects. The occupational stress of workers was evaluated using the Occupational Roles Questionnaire (ORQ) in the Occupational Stress Inventory-Revised (OSI-R). The blood pressure measurement data of physical examination results were collected. The relationship between the ORQ total score and blood pressure was analyzed using Spearman rank correlation, and the causal time-series relationship between occupational stress and elevated blood pressure over time was analyzed by cross-lagged path analysis modelling.Results:In the baseline data of petroleum workers, the systolic blood pressure (SBP) and diastolic blood pressure (DBP) were 124.00 (119.00, 128.00) and 77.00 (73.00, 82.00) mmHg respectively, with an ORQ total score of 164.00 (154.00, 174.00) points. In the follow-up data, the SBP and DBP were 126.00 (123.00, 128.00) and 78.00 (75.00, 82.00) mmHg respectively, and the ORQ total score was 168.00 (157.00, 181.00) points. The results of the correlation analysis showed that the ORQ total score of petroleum workers was positively correlated with the levels of SBP and DBP ( P<0.05), and the ORQ total score at follow-up was negatively correlated with the baseline levels of SBP and DBP ( P<0.05). The results of the cross-lagged path analysis showed that the path coefficients from the baseline ORQ total score of petroleum workers to the follow-up SBP and DBP levels were statistically significant ( ρ=0.06, 0.06, P=0.032, 0.011). In terms of time sequence, the increase in the ORQ total score preceded the increase in the SBP and DBP levels. Conclusion:The occupational stress of petroleum workers is related to blood pressure, and the increase of occupational stress precedes the change of blood pressure. This correlation may increase the risk of hypertension among petroleum workers.

Objective To investigate the expression level of the protein inhibitor of the activated STAT2(PIAS2)gene in prostate cancer and its relationship with clinicopathological features,and the potential role of PIAS2 in reprogramming lipid metabolism in prostate cancer.Methods The Cancer Genome Atlas Program(TCGA)database and HPA immunohistochemical analysis were used to show the expression of PIAS2 protein;qRT-PCR,Western bolt and immunohistochemistry were used to detect PIAS2 in prostate cancer tissues and their paracancerous tissues.PIAS2 expression in prostate cancer tissues and its paracancerous tissues and analyzed its relationship with clinicopathological features of patients;lentivirus infected prostate cancer cell line PC-3M,which stably knocked down PIAS2,was analyzed by ultra performance liquid chromatography mass spectrometry(UPLC-MS)for lipidomics.Results TCGA analysis showed that the expression of PIAS2 in prostate cancer tissues was higher than that in paracancerous tissues,and HPA immunohistochemistry analysis showed that PIAS2 protein was highly expressed in prostate cancer tissues;the expression of PIAS2 mRNA and protein was significantly elevated in prostate cancer compared with that in paracancerous tissues,and the difference was statistically significant(P<0.05);immunohistochemistry showed that PIAS2 protein Expression of PIAS2 protein was mainly localized in the nucleus of prostate,and the AOD value of prostate cancer tissues was significantly higher than that of paraneoplastic tissues:the results of clinicopathological parameters showed that PIAS2 had correlation with Gleason score and TNM stage(P<0.05),while there was no statistically significant correlation with the age of the patients,PSA and lymph node metastasis;UPLC-MS analysis suggested that the knockdown of PIAS2 affected 10 lipid changes,with down-regulation of phosphatidylcholine and phosphatidylethanolamine and up-regulation of phosphatidylinosi-tol,phosphatidylserine,diacylglycerol,and triacylglycerol in the shPIAS2 group compared with the shNC group.Conclusions The expression of PIAS2 protein was significantly elevated in prostate cancer tissues,suggesting that PIAS2 is associated with the development of prostate cancer,and its pathogenesis may be related to the abnormal lipid metabolism of prostate cancer.

【Objective】 To identify the risk factors of patients of bone metastatic prostate cancer with high tumor load progressed to castration resistant prostate cancer (CRPC), establish a nomogram prediction model and evaluate its consistency and accuracy. 【Methods】 A total of 164 patients diagnosed by puncture and imaging during 2012 and 2022 were included.The general characteristics were analyzed with IBM SPSS software; the variables were screened with Cox regression; the multivariate risk factors with P<0.05 were included in the nomogram prediction model.The consistency and prediction accuracy of the model were evaluated with C-index, receiver operating characteristic (ROC) curve and calibration chart. 【Results】 In univariate analysis, initial prostate-specific antigen (PSA), prostate-specific antigen density (PSAD), Gleason score, T stage, alkaline phosphatase (ALP) and lactate dehydrogenase (LDH) were correlated with CRPC (P<0.05).Multivariate analysis showed that initial PSA, Gleason score, T stage, ALP and LDH were independent risk factors of CRPC (P<0.05).Based on the above five risk factors, a nomogram prediction model was constructed.The C-index was 0.801, the area under ROC curve (AUC) of 1-year progression-free survival (PFS) was 0.701 (0.608-0.794), and the AUC of 2-year PFS was 0.857 (0.767-0.947).The calibration chart showed that the prediction probability of the model was in good agreement with the actual probability. 【Conclusion】 Initial PSA, Gleason score, T stage, ALP and LDH are independent risk factors of CRPC.The predictive model may be an effective tool for the initial diagnosis of high tumor load bone metastatic prostate cancer, but more data are needed for internal and external validation.

[Objective] To explore the clinical efficacy and feasibility of blue laser transurethral incision of prostate (BLTUIP) in the treatment of small volume (≤30 mL) benign prostatic hyperplasia (BPH). [Methods] The clinical data of 34 BPH patients treated with BLTUIP in the First Affiliated Hospital of Xinjiang Medical University during Mar.and Oct.2023 were retrospectively analyzed.The operation time, 450 nm blue laser light emission time, 980 nm red laser light emission time, postoperative bladder irrigation time, international prostate symptom score (IPSS), quality of life score (QoL), maximum flow rate (Qmax), post-void residual (PVR), international index of erectile function-5 (IIEF-5), ejaculation and incidence of postoperative complications were analyzed. [Results] All operations were successful, without conversion to open or transurethral resection of the prostate (TURP). The operation time was 12.7 (10.8, 14.3) min, the 450 nm blue laser light emission time was 11.7 (9.6, 13.3) min, the 980 nm red laser light emission time was 1.0 (1.0, 2.0) min, the postoperative bladder irrigation time was 5.0 (2.8, 8.0) h, the total hospital stay was 6.0 (4.0, 7.0) d, the postoperative hospital stay was 2.0 (2.0, 3.0) d, and the postoperative catheter retention time was 2.0 (0, 2.0) d. After 3 or 6 months of follow-up, the IPSS, QoL and PVR were significantly lower than those before operation, while the Qmax was significantly higher, with significant differences (P<0.001); but there was no significant difference in the IIEF-5 score (P>0.05). During the 3-month follow-up, 4 patients (11.8%) had fever; during the 3-6 month follow-up, 1 patient (2.9%) had external urethral stricture; of the 8 patients with sexual life before operation, 1 (12.5%) had retrograde ejaculation after operation.No hematuria occurred. [Conclusion] BLTUIP is a new, safe and efficient surgical treatment for BPH with a volume ≤30 mL, which can shorten the operation time, reduce postoperative complications, and improve the quality of life.

[Objective] To explore the number of examined lymph nodes (ELN) and positive lymph node ratio (LNR) in the prediction of 5-year and 10-year overall survival (OS) and cancer-specific survival (CSS) of prostate cancer (PCa) patients, so as to provide reference for clinical practice. [Methods] Information of PCa patients screened in the Surveillance, Epidemiology and End Results (SEER) database during 2010-2020 were analyzed. A total of 1842 PCa patients were assigned to the training set (n=1290) and validation set (n=552) in a 7∶3 ratio with R 4.3.0 software. Significant factors in the multivariate Cox proportional risk regression model were adjusted, restricted cubic spline plots (RCS) were plotted, the optimal cut-off values of ELN and LNR were determined, and the 5-year and 10-year OS and CSS were analyzed with restricted mean survival time (RMST). [Results] Multivariate Cox analysis showed that there was a 2.9% reduction in the risk of death with an increase of 1-unit ELN and a 3.1% reduction in the risk of cancer-specific death. There was a 481.4% increase in the risk of death with a 1-unit increase in LNR and a 667.5% increase in the risk of cancer-specific death. The risk of overall death and cancer-specific death in ELN and PCa patients showing a non-linear relationship (P<0.001), while in the LNR and PCa patients showing a linear relationship (P>0.05). RMST results showed that the optimal ELN range for evaluating OS was 12-29, the optimal ELN range for assessing CSS was 12-25, LNR>0.152 indicated poor prognosis. [Conclusion] We have clarified the range of ELN and LNR, which can provide reference for the clinical precision diagnosis and treatment of PCa.

Objective:To explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients.Methods:A pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was collected. The fetus was subjected to routine prenatal ultrasound scan. Trio-whole exome sequencing (trio-WES) was carried out for the fetus and its parents, and candidate variant was verified by Sanger sequencing. Relevant literature was searched from the database to summarize the prenatal phenotype of BOFS patients. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Ultrasound exam suggested the fetus had cleft lip and palate. Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis. Its grandfather also had high palatal arch, prematurely gray hair, protruding ears, congenital preauricular fistula and hearing disorders. Trio-WES revealed that the fetus and its father had both harbored a heterozygous c. 890-1G>A variant of the TFAP2A gene. The same variant was not found in its mother. Sanger sequencing confirmed that its grandfather had also harbored the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PVS1+ PM2_Supporting). Combined with 36 similar cases retrieved from the literature, the prenatal phenotypes of BOFS patients had included growth restriction (25/37), renal abnormalities (10/37), cleft lip and palate (5/37) and oligohydramnios (5/37). Conclusion:The c. 890-1G>A variant of the TFAP2A gene probably underlay the pathogenesis of BOFS in this pedigree. Discovery of the novel variant has enriched the mutational spectrum of the TFAP2A gene. The common prenatal phenotypes of BOFS have included growth restriction, renal abnormalities, cleft lip and palate and oligohydramnios. Delineation of the intrauterine phenotype of BOFS may facilitate its prenatal diagnosis, clinical diagnosis, treatment and genetic counseling.