1.Characteristic volatile organic compounds in exhaled breath of coal workers' pneumoconiosis patients by thermal desorption gas chromatography-mass spectrometry
Yazhen HE ; Chunguang DING ; Junyun WANG ; Yuzhen FENG ; Fangda PENG ; Gaisheng LIU ; Fan YANG ; Chunmin ZHANG ; Rui GAO ; Qingyu MENG ; Zhijun WU ; Jingguang FAN
Journal of Environmental and Occupational Medicine 2025;42(5):571-577
Background Coal workers' pneumoconiosis is a serious occupational disease in China. Exhaled volatile organic compounds (VOCs) can serve as the "breath fingerprint" of internal pathological processes, which provides a theoretical basis for exhaled VOCs to be used as potential non-invasive biomarkers for early diagnosis of coal workers' pneumoconiosis. Objective To screen out the characteristic VOCs and important characteristic VOCs of exhaled air in patients with coal workers' pneumoconiosis, and to explore the potential of these VOCs as biomarkers for early non-invasive diagnosis of the disease. Methods In this study, 27 VOCs in the exhaled breath of 22 patients with stage I coal workers' pneumoconiosis, 77 workers exposed to dust, and 92 healthy controls were quantitatively detected by thermal desorption gas chromatography-mass spectrometry (TD-GC-MS). Substances with P<0.05 in univariate analysis and variable importance projection (VIP) >1 in supervised orthogonal partial least squares discriminant analysis (OPLS-DA) model were selected as the characteristic VOCs for early diagnosis of coal workers' pneumoconiosis. Age was included in the LASSO regression model as a covariate to screen out important characteristic VOCs, and the diagnostic performance was evaluated by receiver operating characteristic (ROC) curve. Spearman correlation was further used to explore the correlation between important characteristic VOCs and clinical lung function indicators. Results Through univariate analysis and OPLS-DA modeling, 8 VOCs were selected, including 2-methylpentane, 3-methylpentane, n-hexane, methylcyclopentane, n-heptane, methylcyclohexane, 4-methyl-2-pentanone, and 2-hexanone, in exhaled breath of patients with coal workers' pneumoconiosis. The concentrations of 4 VOCs, including 3-methylpentane, n-hexane, 4-methyl-2-pentanone, and 2-hexanone, showed a decreasing trend with the increase of dust exposure years. By LASSO regression, the important characteristic VOCs of the coal workers' pneumoconiosis group and the dust exposure group were n-hexane, methylcyclohexane and 4-methyl-2-pentanone, and the important characteristic VOCs of the coal workers' pneumoconiosis group and the healthy group were 2-methyl-pentane and 4-methyl-2-pentanone. The ROC analysis showed that the area under the curve (AUC) of n-hexane, methylcyclohexane, and 4-methyl-2-pentanone were 0.969, 0.909, and 0.956, respectively, and the AUC of combined diagnosis was 0.988 and its Youden index was 0.961, suggesting that these results can serve as a valuable reference for further research on early diagnosis. The Correlation analysis found that there was a positive correlation between n-hexane and lung function indicators in the important characteristic VOCs, indicating that it could indirectly reflect the obstruction of lung function ventilation, further proving that important characteristic VOCs have the potential to monitor lung function decline. Conclusion Three important characteristic VOCs selected in this study have the potential to be used as non-invasive biomarkers for early diagnosis and disease monitoring of coal workers' pneumoconiosis, and are worthy of further study and verification.
2.Research progress on collection and analysis methods of exhaled volatile organic compounds
Yazhen HE ; Rui GAO ; Zhijun WU ; Jingguang FAN ; Chunguang DING
Journal of Environmental and Occupational Medicine 2024;41(6):707-712
The composition and concentration of volatile organic compounds (VOCs) in exhaled breath are closely related to human health and the analysis of VOCs by collecting human exhaled breath has been widely used in disease surveillance research. This article reviewed the collection, enrichment, and detection methods of exhaled VOCs, which can provide a reference for selecting appropriate technology for follow-up research. The exhaled breath collection devices mainly include sampling bags for mixed exhaled breath and biological volatile organic compound (Bio-VOC) samplers for alveolar air. The pre-enrichment equipment included thermal desorption (TD), solid-phase microextraction device (SPME), and needle trap device (NTD). The detection methods of exhaled VOCs include gas chromatography-mass spectrometry (GC-MS), proton transfer reaction mass spectrometry (PTR-MS), selective ion flow tube mass spectrometry (SIFT-MS), and electronic nose. At present, the collection and enrichment technology of exhaled breath is not mature yet, and its influence on the results of detection is lack of evaluation. In the future, the research on collection and enrichment technology of exhaled breath should be strengthened to further promote the application of exhaled breath in disease surveillance research.
3.Proximal and distal ends of thoracodosal artery and vein as recipient vessels for immediate breast reconstructions using deep inferior epigastric perforator flap in four cases
Xiuxiu CHEN ; Huangfu WU ; Lan MU ; Wuping ZHENG ; Junbo PAN ; Guisheng HE ; Tao SONG ; Yazhen ZHANG ; Hengyu CHEN ; Jinghui HUANG ; Yilian XU
Chinese Journal of Plastic Surgery 2024;40(5):507-513
Objective:Explore the feasibility and advantages of using proximal and distal ends of thoracodosal artery and vein as recipient vessels in deep inferior epigastric perforator flap immediate breast reconstruction.Methods:The clinical data of patients who underwent breast reconstruction surgery using the proximal and distal ends of the thoracodorsal vein as recipient vessels at the Department of Breast and Thyroid Surgery of the Second Affiliated Hospital of Hainan Medical University from March 2022 to June 2023 were analyzed retrospectively. Preoperative examinations included thoracoabdominal angiography and color Doppler ultrasonic localization of the main trunk and perforators of the inferior epigastric vessels. The procedure began with mastectomy and axillary lymph node dissection, followed by the isolation of bilateral perforators and the main trunk of the abdominal flap. The main trunks of the bilateral inferior epigastric arteries were then transected, and their vascular pedicles exposed and anastomosed respectively to the proximal and distal ends of the thoracodorsal artery and vein. Both arteries and veins were joined end-to-end. The flap after trimming and reconstruction was then implanted into the cavity left after mastectomy through the incision. Breast positioning was performed with the patient in a knee-bent and hip-flexed position. After adjusting the shape of the reconstructed breast. The donor site was closed, the umbilicus was reconstructed, drainage tubes were placed, and the breast incision was closed. Postoperative follow-up monitored complications associated with the flap and patient satisfaction with the breast reconstruction, utilizing a self-assessment method.Results:Four female patients were included, aged (46.0±6.5) years, ranging from 37 to 52 years. All four patients had bilateral vascular pedicles in the donor area, with three patients having thoracodorsal vessels at the distal and proximal ends as recipient vessels, and one patient having anterior serratus branch of the thoracodorsal vessels at the distal and proximal ends. All drainage tubes were removed within 7 to 10 days after surgery. Patients were discharged. Follow-up period ranged from 1 to 15 months, averaging 6 months. The patients recovered well postoperatively, with no flap-related complications occurring. All four patients were satisfied with the result of the reconstruction.Conclusion:The simultaneous application of the proximal and distal ends of the thoracodorsal artery and vein can ensure the safety of flap survival while reducing damage to the ribs and intercostal muscles, achieving better aesthetic result.
4.Proximal and distal ends of thoracodosal artery and vein as recipient vessels for immediate breast reconstructions using deep inferior epigastric perforator flap in four cases
Xiuxiu CHEN ; Huangfu WU ; Lan MU ; Wuping ZHENG ; Junbo PAN ; Guisheng HE ; Tao SONG ; Yazhen ZHANG ; Hengyu CHEN ; Jinghui HUANG ; Yilian XU
Chinese Journal of Plastic Surgery 2024;40(5):507-513
Objective:Explore the feasibility and advantages of using proximal and distal ends of thoracodosal artery and vein as recipient vessels in deep inferior epigastric perforator flap immediate breast reconstruction.Methods:The clinical data of patients who underwent breast reconstruction surgery using the proximal and distal ends of the thoracodorsal vein as recipient vessels at the Department of Breast and Thyroid Surgery of the Second Affiliated Hospital of Hainan Medical University from March 2022 to June 2023 were analyzed retrospectively. Preoperative examinations included thoracoabdominal angiography and color Doppler ultrasonic localization of the main trunk and perforators of the inferior epigastric vessels. The procedure began with mastectomy and axillary lymph node dissection, followed by the isolation of bilateral perforators and the main trunk of the abdominal flap. The main trunks of the bilateral inferior epigastric arteries were then transected, and their vascular pedicles exposed and anastomosed respectively to the proximal and distal ends of the thoracodorsal artery and vein. Both arteries and veins were joined end-to-end. The flap after trimming and reconstruction was then implanted into the cavity left after mastectomy through the incision. Breast positioning was performed with the patient in a knee-bent and hip-flexed position. After adjusting the shape of the reconstructed breast. The donor site was closed, the umbilicus was reconstructed, drainage tubes were placed, and the breast incision was closed. Postoperative follow-up monitored complications associated with the flap and patient satisfaction with the breast reconstruction, utilizing a self-assessment method.Results:Four female patients were included, aged (46.0±6.5) years, ranging from 37 to 52 years. All four patients had bilateral vascular pedicles in the donor area, with three patients having thoracodorsal vessels at the distal and proximal ends as recipient vessels, and one patient having anterior serratus branch of the thoracodorsal vessels at the distal and proximal ends. All drainage tubes were removed within 7 to 10 days after surgery. Patients were discharged. Follow-up period ranged from 1 to 15 months, averaging 6 months. The patients recovered well postoperatively, with no flap-related complications occurring. All four patients were satisfied with the result of the reconstruction.Conclusion:The simultaneous application of the proximal and distal ends of the thoracodorsal artery and vein can ensure the safety of flap survival while reducing damage to the ribs and intercostal muscles, achieving better aesthetic result.
5.Clinical features and genetic analysis of child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 due to variant of DNA2 gene
Yuanling CHEN ; Lulu YAN ; Jiangyang XUE ; Haibo LI ; Ling WU ; Jika ZHENG ; Yazhen DI
Chinese Journal of Medical Genetics 2024;41(10):1238-1242
Objective:To explore the genetic etiology for a child with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 (PEOA6).Methods:A child who had attended the Women and Children′s Hospital Affiliated to Ningbo University on 7 August, 2023 was selected as the study subject. Clinical data of the child were analyzed retrospectively. The child and her parents were subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by Medical Ethics Committee of the Women and Children′s Hospital Affiliated to Ningbo University (Ethics No. EC2020-048).Results:The child, a 7-year-old female, had presented with limb muscle pain, amyosthenia, significantly increased creatine kinase, congenital diaphragmatic hernia and recurrent respiratory tract infections. WES revealed that she has harbored a heterozygous c. 1590G>C (p.L530F) variant of the DNA2 gene, which was verified to have a de novo origin by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1590G>C was rated as a likely pathogenic variant (PS2+ PM2_Supporting+ PP3). Conclusion:The c.1590G>C (p.L530F) variant of the DNA2 gene probably underlay the PEOA6 in this child.
6.The big data diagnosis-intervention packet payment method: experience from Shanghai and Guangzhou
Su XU ; Jinglei WU ; Hua XIE ; Li LIN ; Qian ZENG ; Xin CUI ; Jianwei XUAN ; Xiaohua YING ; Yujia YANG ; Yazhen YING
Chinese Journal of Hospital Administration 2021;37(3):186-190
Medical insurance payment model is transforming from project-based purchases to service bundle-based strategic purchases. The new form of bundled purchases should found on a scientifically-led design process of such bundles. The core to bundled purchase would be the payment standard, and the key to its success would be process control. Establishment of such a foundation, a core, and a key, would promote the current price standards, and lead service providers to a standardized medical service standard, so as to ensure a precise rewarding system of payment and service. The big data diagnosis-intervention packet(DIP)is able to fulfill mentioned ambitions by integrating insurance payment and supervision into one management. DIP is a full-process payment mode that encompasses pre-service estimation, in-service process control, post-service grading, and resource allocation. It is an innovative practice in line with China′s national conditions for the modern governance of medical security and medical services.
7.Research updates on strabismus associated with congenital cataract
Chinese Journal of Experimental Ophthalmology 2021;39(4):346-350
Patients with congenital cataract often present strabismus simultaneously.Strabismus is closely related to the occurrence of cataract, and is one of the main threats for the development of binocularity and the therapeutic effect of amblyopia.In addition, strabismus negatively affects the appearance and psychological well-being of patients.The influencing factors of strabismus associated with congenital cataract include bilateral or unilateral congenital cataract, type of cataract, timing of cataract surgery, cataract surgery techniques, type of optical correction of aphakia and so on.Visual rehabilitation after congenital cataract surgery is inseparable from the treatment of strabismus.In this article, recent progress on the incidence, pathogenesis, influencing factors, timing of surgery and prognosis of strabismus associated with congenital cataract were reviewed, which might help to understand its clinical features and relevant treatment strategy.
8. An interlaboratory comparison study on the detection of RUNX1-RUNX1T1 fusion transcript levels and WT1 transcript levels
Yazhen QIN ; Liwen ZHU ; Shuang LIN ; Suxia GENG ; Shengwei LIU ; Hui CHENG ; Chengye WU ; Min XIAO ; Xiaoqing LI ; Ruiping HU ; Lili WANG ; Haiyan LIU ; Daoxin MA ; Tao GUAN ; Yuanxin YE ; Ting NIU ; Jiannong CEN ; Lisha LU ; Li SUN ; Tonghua YANG ; Yungui WANG ; Tao LI ; Yue WANG ; Qinghua LI ; Xiaosu ZHAO ; Lingdi LI ; Wenmin CHEN ; Lingyu LONG ; Xiaojun HUANG
Chinese Journal of Hematology 2019;40(11):889-894
Objective:
To investigate the current status and real performance of the detection of RUNX1-RUNX1T1 fusion transcript levels and WT1 transcript levels in China through interlaboratory comparison.
Methods:
Peking University People’s Hospital (PKUPH) prepared the samples for comparison. That is, the fresh RUNX1-RUNX1T1 positive (+) bone morrow nucleated cells were serially diluted with RUNX1-RUNX1T1 negative (-) nucleated cells from different patients. Totally 23 sets with 14 different samples per set were prepared. TRIzol reagent was added in each tube and thoroughly mixed with cells for homogenization. Each laboratory simultaneously tested RUNX1-RUNX1T1 and WT1 transcript levels of one set of samples by real-time quantitative PCR method. All transcript levels were reported as the percentage of RUNX1-RUNX1T1 or WT1 transcript copies/ABL copies. Spearman correlation coefficient between the reported transcript levels of each participated laboratory and those of PKUPH was calculated.
Results:
①RUNX1-RUNX1T1 comparison: 9 samples were (+) and 5 were (-) , the false negative and positive rates of the 20 participated laboratories were 0 (0/180) and 5% (5/100) , respectively. The reported transcript levels of all 9 positive samples were different among laboratories. The median reported transcript levels of 9 positive samples were from 0.060% to 176.7%, which covered 3.5-log. The ratios of each sample’s highest to the lowest reported transcript levels were from 5.5 to 12.3 (one result which obviously deviated from other laboratories’ results was not included) , 85% (17/20) of the laboratories had correlation coefficient ≥0.98. ②WT1 comparison: The median reported transcript levels of all 14 samples were from 0.17% to 67.6%, which covered 2.6-log. The ratios of each sample’s highest to the lowest reported transcript levels were from 5.3-13.7, 62% (13/21) of the laboratories had correlation coefficient ≥0.98. ③ The relative relationship of the reported RUNX1-RUNX1T1 transcript levels between the participants and PKUPH was not always consistent with that of WT1 transcript levels. Both RUNX1-RUNX1T1 and WT1 transcript levels from 2 and 7 laboratories were individually lower than and higher than those of PKUPH, whereas for the rest 11 laboratories, one transcript level was higher than and the other was lower than that of PKUPH.
Conclusion
The reported RUNX1-RUNX1T1 and WT1 transcript levels were different among laboratories for the same sample. Most of the participated laboratories reported highly consistent result with that of PKUPH. The relationship between laboratories of the different transcript levels may not be the same.
9.Screening and functional studies of long non - coding RNA in protecting ischemic acute kidney injury by Astragaloside Ⅳ
Yazhen WANG ; Jihuan DAI ; Genxiang MAO ; Qing WU ; Guofu WANG
Chinese Journal of Primary Medicine and Pharmacy 2019;26(6):687-692
Objective To investigate the expression profile of long non - coding RNAs(lncRNAs) in acute kidney injury (AKI) rats upon astragaloside IV(AS - IV) treatment. Methods Eight male SD rats were selected and randomly divided into two groups. AKI model group(group 1):4 rats were subjected to ischemia - reperfusion(I/ R);AS - Ⅳ pretreatment group (group 2):4 rats were orally administered AS - Ⅳ for 7 days prior to I/ R. Renal tissues were collected after I/ R treatment of 24h,total RNA was extracted from renal tissues and tested for quality. Sequencing experiments were carried out after being qualified. The threshold set for up - and down - regulated genes was a fold change(group1 / group2)≥2 and P≤0. 05. Afterwards,GO analysis and KEGG analysis were used to determine the roles that these differentially expressed mRNAs played in these GO terms or pathways. Results Two hundred and thirty - two lncRNAs were differentially expressed(127 lncRNAs were up - regulated and 105 lncRNAs were down -regulated). Three hundred and forty - one mRNAs were differentially expressed(178 mRNAs were up - regulated and 163 mRNAs were down - regulated). GO analysis indicated that differentially expressed mRNAs were mainly involved in biological processes such as nucleosome assembly,chromatin assembly,nucleosome organization,chromatin assembly or disassembly and DNA conformation change. GO analysis indicated that differentially expressed mRNAs were mainly involved in cellular components such as nucleosome,protein - DNA complex,nuclear chromatin,chromatin and nuclear nucleosome. GO analysis indicated that differentially expressed mRNAs were mainly involved in molecular functions such as protein heterodimerization activity,protein dimerization activity,DNA binding,nucleic acid binding. Signal pathway analysis indicated that lncRNAs and mRNAs were involved in systemic lupus erythematosus,alcoholism and viral carcinogenesis. Conclusion LncRNAs expression differed significantly in renal tissues of AKI model group and AS - Ⅳ preconditioning group. Study of the biological functions and pathways of these lncRNAs indicated that they may be involved in the mechanism of AS - Ⅳ ameliorated ischemic acute renal injury.
10.Expression of miR-103a-3p in breast cancer tissues and its suppression on glycolysis and proliferation of breast cancer cells via down-regulating PDK4
ZHANG Yazhen ; HE Guisheng ; WU Xiaoming ; SONG Jiefeng ; WU Huangfu
Chinese Journal of Cancer Biotherapy 2018;25(5):490-496
[Abstract] Objective: : To explore miR-103a-3p expression in the tumor tissues and the serum of breast cancer patients, and its role and mechanism in breast cancer development. Methods: Pathologically confirmed 31 cases of tumor tissues and 21 cases of para-cancerous tissues resected at Department of Oncological Surgery of the Second Affiliated Hospital of Hainan Medical University (Haikou, China) from March 1, 2017 to August 31,2017 were collected for this study; in addition, serum samples from 38 breast cancer patients and 22 healthy subjects as well as the breast cancer cell lines MCF-7 and MDA-MB-231 were used in this study. pHBLV-U6-Luc-T2A-Puro and PLL3.7 lentivirus were applied to knock down miR-103a-3p and PDK4 in MCF-7 and MDA-MB-231 cells, respectively. qPCR and Western blotting were performed to examine the mRNA and protein expressions of miR-103a-3p and PDK4 in tissues and serums of breast cancer patients as well as the in cell lines, respectively; CCK-8 assay was applied to detect the proliferation of MCF-7 and MDAMB-231 cells; Olympus AU5400 was applied to detect the glucose consumption and lactate production in indicated cell line. Results: : miR-103a-3p was significantly decreased in tumor tissues compared with the paracancerous tissues (P<0.01). miR-103a-3p knockdown activated the glucos consumption and lactate production (all P<0.01), increased the PKD4 expression (P<0.01) in MCF-7 and MDAMD-231 cells, and promoted the proliferation of MCF-7 and MDA-MB-231 cells (P<0.01). Furthermore, knockdown of PDK4 suppressed the glucose consumption, lactate production and proliferation in MCF-7 and MDA-MB-231 cells with miR-103a-3p silencing (all P<0.01). Conclusion: :In the breast cancer, miR-103a-3p inhibited the proliferation of breast cancer cells through down-regulation of PDK4 and PDK4-mediated aerobic glycolysis.

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