1.Missense mutation analysis of the COL7A1 gene in a pedigree with dominant dystrophic epidermolysis bullosa
Linhong YU ; Huaiyu WANG ; Changhua ZHU ; Linxin DONG ; Baofeng WU ; Lihang LIN ; Xuemin XIAO
Chinese Journal of Dermatology 2024;57(5):455-458
Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.
2.Investigation on an incident of occupational contact dermatitis in a farm
Baofeng LIU ; Runan QIN ; Xudong LI ; Jun ZHU ; Qiang ZENG
Journal of Preventive Medicine 2022;34(3):294-296
Objective:
To investigate the cause of an incident of occupational contact dermatitis in a farm in Tianjin Prefecture, so as to provide insights into occupational safety.
Methods:
The disinfection process, use of disinfectants and individual protective measures in this farm were collected, and a field epidemiological investigation was conducted to collect the demographic characteristics, history of occupational contact, clinical symptoms, diagnosis and treatment data, and onset of disease among individuals with the same type of job. The cause of this incident was analyzed.
Results:
There were ten interns exposed to potassium hydrogen sulfate compounds simultaneously in this farm, and then, nine interns developed skin flushing across the body, and swelling and itching of the skin. Among these ten interns, five individuals were admitted to hospitals because of severe symptoms and were then clinically diagnosed as systemic contact dermatitis. All five individuals were cured following treatments. Epidemiological survey showed that all cases had a definite history of occupational contact with potassium hydrogen sulfate compounds but without use of any protective agents. In addition, there were thirty-five individuals with the same type of job in this farm that developed similar symptoms when they joined in the disinfection for the first time, and these individuals were self-cured following cessation to contact; however, recurrence of symptoms was found following contacts again.
Conclusion
This is a cluster of occupational contact dermatitis caused by exposure to potassium hydrogen sulfate compound.
3.Effects and Mechanisms of Combined Application of Molecular Targeted Drugs on Proliferation of Hepatocellular Carcinoma SK-Hep-1 Cells
Xiaoxia ZHU ; Yuqi JIA ; Chang LIU ; Tao GONG ; Gaopeng LI ; Hongwei ZHANG ; Baofeng YU
Cancer Research on Prevention and Treatment 2022;49(11):1126-1133
Objective To study the effects and mechanisms of molecular targeted drug combination on multi-driven proliferation hepatocellular carcinoma SK-Hep-1 cells. Methods Four molecular targeted drugs (HG6-64-1, Dasatinib, Crizotinib, and Sunitinib) were used to treat SK-Hep-1 cells, and the monophasic kinetic analysis curve and two-phase analysis curve were drawn. Western blot analysis was used to detect the effects of the above drugs on key signaling pathways in SK-Hep-1 cells. MTT assay was used to detect the effects of the above drugs and their combination on the proliferation of SK-Hep-1 cells. Results Compared with the monophasic kinetic analysis curve, the biphase analysis curve could better fit the effects of molecular targeted drugs on SK-Hep-1 cells, which predicted that the combination of HG6-64-1, Dasatinib, and MK-2206 could effectively inhibit the proliferation of SK-Hep-1 cells. Conclusion Two-phase kinetic analysis can quantitatively describe the response of multi-driven proliferation hepatocellular carcinoma SK-Hep-1 cells to molecular targeted therapy. The combination of HG6-64-1, Dasatinib, and MK-2206 is a potential drug combination for the treatment of hepatocellular carcinoma.
4.Effect of circhipk3 on polarization of microglial cells in nerve injury caused by heat radiation
Lei WANG ; Yiming SHEN ; Chen QIAN ; Xin CHU ; Yong DAI ; Baofeng ZHU ; Yi ZHANG
Chinese Journal of Emergency Medicine 2021;30(4):452-458
Objective:To investigate the expression of circhipk3 in microglial cells in heat-induced neurological injury, and to preliminary analyze the effect of circhipk3 on microglial polarization in heat-induced neurological injury.Methods:Mice were randomly (random number) divided into a control group and a heat radiation disease 0.8 h group (HS 0.8), a heat radiation disease 8h group (HS 8), and a heat radiation disease 24 h group (HS 24). By establishing a mouse model of heat shock (HS), heat-damaged brain tissue was obtained, microglia were isolated and RNA was extracted. Quantitative PCR method was used to detect M1 and M2 marker molecules in microglia, and to evaluate the polarization direction and type of microglia. The expression level of circhipk3 was detected in microglial cells in heat-induced neurological injury, and the effect of circhipk3 on microglial polarization was further elucidated by intervening the expression of circhipk3 in microglial cells.Results:The expression of CD45 and CD11-b in the HS 8 group was significantly higher than that in the control group [(4.41±0.18) vs. (1±0.15), P=0.000], [(3.47±0.19) vs (1±0.15), P=0.000] , and the CD45 and CD11-b of the HS 24 group was significantly lower than that of the HS 8 group [(1.34±0.15) vs. (4.41±0.18), P=0.000], [(1.38±0.21) vs. (3.47±0.19), P= 0.001]. At the same time, the expression of CD206, FIZZ and Arg1 in the HS 8 group started to increase compared with the control group [(1.59±0.16) vs. (1±0.12), P=0.014], [(1.62±0.15) vs. (1±0.15), P=0.002 ], [(2.23±0.28) vs. (1±0.19), P=0.004], and CD206, FIZZ, and Arg1 in the HS 24 group were significantly higher than those in the control group [(2.67±0.20) vs. (1±0.12), P=0.002], [(2.19±0.15) vs. (1±0.15), P=0.000], [(3.04±0.18) vs. (1±0.19), P=0.001]; circhipk3 mimicis significantly increased the expression of Arg1 [(7.26± 0.06) vs. (3.86±0.06), P=0.000]; at the same time, circhipk3 inhibitor promoted the expression of CD45 and HO-1 [(2.96±0.03) vs. (1.63±0.09), P=0.000], [(2.52±0.10) vs. ( 1.30±0.02), P=0.000]. Conclusions:Microglial cells are predominantly M1-type in early neurological injury of heat radiation disease. HO-1 may be one of the microglial M1-type markers. The high expression of circhipk3 in microglial cells mainly promotes its transformation to M2 type.
5.Diagnosis and treatment of congenital pulmonary airway malformation
Ziyin SHANG ; Xianlun DUAN ; Peng ZHANG ; Wenwen ZHONG ; Baofeng ZHU ; Diwen SUN
Chinese Journal of Thoracic and Cardiovascular Surgery 2018;34(10):606-608
Objective To summarize the diagnosis and treatment of congenital pulmonary airway malformation in children.Methods The clinical data of 68 children with congenital pulmonary airway malformations from June 2014 to June 2017 were analyzed retrospectively,including 39 males and 29 females with mean age(1.1 ±:0.5) years old(from 2 months 12 days to 15 years),7 cases of pulmonary cyst resection in 68 cases,3 cases with lung segment resection,1 cases with lingulectomy,57 cases with lobectomy.Results 68 cases were cured and discharged without death.Postoperative short-term complications included subcutaneous emphysema in 5 cases,pleural effusion in 2 cases,pneumothorax in 2 cases.All cases were followed up well between 3 months and 1 year.Conclusion The diagnosis of congenital pulmonary airway malformation in children mainly depends on imaging examination.Because it is easy to repeat infection,and can not rule out malignant transformation,early diagnosis and early treatment should be done.Surgical resection is the only way to treat the disease.
6.Influence of Xin'an River water conservancy project on epidemic of schistosomiasis in the Qiandao Lake reservoir area
Weimin XU ; Yihong ZHENG ; Zhaoying QIAN ; Sujuan ZHU ; Xiaolan YAN ; Mingjiang WU ; Yibiao ZHOU ; Baofeng QIAN ; Hua DING ; Jianfeng ZHANG ; Qingwu JIANG ; Liyong WEN
Chinese Journal of Endemiology 2018;37(5):414-419
Objective To study epidemic of schistosomiasis in the Qiandao Lake reservoir area,and to provide a reference for prevention and control of schistosomiasis in the construction of large water conservancy projects in the epidemic area of schistosomiasis.Methods The data over the years of snail condition and monitoring of schistosomiasis before and after building the dam,and water conservancy project reconstruction related information were collected.Based on the survey results of the river channel,the lake beach and the dissipation zone in the reservoir area,the influence of Xin'an River water conservancy project on epidemic of schistosomiasis in the Qiandao Lake reservoir area was analyzed,and the epidemic factors of the schistosomiasis in the Three Gorges reservoir were compared and analyzed.Results Before the dam was built,an area of 38 144 000 m2 was examined but Oncomelania was undetected.The Qiandao Lake reservoir area belonged to a non epidemic area of schistosomiasis.After the dam was built,557 cases of schistosomiasis were found in 6 232 immigrants during 1962-1965,resulting in an imported epidemic.In 1970-1980,an area of 379 654 m2 in which Oncomelania was found was examined and snails were mainly distributed in some rice fields and ditches in the end of the reservoir.949 cases of local schistosomiasis were found in the snails.The condition and condition of the snail are gradually controlled through several decades of comprehensive prevention and control.Compared with the epidemic factors of schistosomiasis in Qiandao Lake and the Three Gorges reservoir,the environment of elevation beach and ecologically fragile fluctuation zone coexist in the two reservoir areas.Conclusion From the long-term longitudinal monitoring data of the Qiandao Lake reservoir area and the epidemic regularity of schistosomiasis and the comparison with the ecology of the Three Gorges reservoir,it is concluded that the two reservoir areas will not cause a large range of schistosomiasis epidemic in general,but it does not exclude the possibility of the breeding of the inputting Oncomelania.
7. Effects of p-phenylenediamine on lung function and health-related quality of life of workers
Ming ZHANG ; Lin FAN ; Baofeng LIU ; Jing LIN ; Huijing TANG ; Baoli ZHU ; Rongming MIAO ; Xinglin FANG ; Jiayang FANG ; Shulang ZHAO ; Meibian ZHANG ; Qiang ZENG
Chinese Journal of Industrial Hygiene and Occupational Diseases 2018;36(11):834-836
Objective:
To study the effects
8. Effects of p -Phenylene diamine on liver and kidney functions of occupational exposed workers
Lin FAN ; Ming ZHANG ; Baofeng LIU ; Jing LIU ; Huijing TANG ; Baoli ZHU ; Rongming MIAO ; Meibian ZHANG ; Xinglin FANG ; Jiayang FANG ; Shulan ZHAO ; Qiang ZENG ; Qing GU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2018;36(12):923-926
Objective:
To study the effect of p-phenylenediamine (PPD) on liver and kidney function in occupational exposed workers.
Methods:
Workers in a hair dye production enterprise which used p-phenylenediamine as a raw material for production were selected as the main research population. Then we conducted a questionnaire survey on the basic conditions of workers and conducted occupational health checkups on general health status, liver and kidney function. Occupational health examination assessment results were tested in Taizhou Cancer Hospital. All data was built using EpiData 3.1 software, and statistical analysis was performed using software SPSS 20.0.
Results:
The liver function indicators including direct bilirubin, prealbumin, total protein, and white protein, globulin, aspartate aminotransferase, glutamyl transpeptidase, and total bilirubin in the workers exposed to high concentration of PPD were at high normal values, and these indicators were significantly different from low PPD concentration group (
9.Potential Vaccine Targets against Rabbit Coccidiosis by Immunoproteomic Analysis.
Hongyan SONG ; Ronglian DONG ; Baofeng QIU ; Jin JING ; Shunxing ZHU ; Chun LIU ; Yingmei JIANG ; Liucheng WU ; Shengcun WANG ; Jin MIAO ; Yixiang SHAO
The Korean Journal of Parasitology 2017;55(1):15-20
The aim of this study was to identify antigens for a vaccine or drug target to control rabbit coccidiosis. A combination of 2-dimensional electrophoresis, immunoblotting, and mass spectrometric analysis were used to identify novel antigens from the sporozoites of Eimeria stiedae. Protein spots were recognized by the sera of New Zealand rabbits infected artificially with E. stiedae. The proteins were characterized by matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF/TOF-MS) analysis in combination with bioinformatics. Approximately 868 protein spots were detected by silver-staining, and a total of 41 immunoreactive protein spots were recognized by anti-E. stiedae sera. Finally, 23 protein spots were successfully identified. The proteins such as heat shock protein 70 and aspartyl protease may have potential as immunodiagnostic or vaccine antigens. The immunoreactive proteins were found to possess a wide range of biological functions. This study is the first to report the proteins recognized by sera of infected rabbits with E. stiedae, which might be helpful in identifying potential targets for vaccine development to control rabbit coccidiosis.
Coccidiosis*
;
Computational Biology
;
Eimeria
;
Electrophoresis
;
HSP70 Heat-Shock Proteins
;
Immunoblotting
;
Mass Spectrometry
;
Rabbits
;
Sporozoites
10.Clinical value of angiogenin in predicting the prognosis of patients with idiopathic pulmonary fibrosis
Yanling BAI ; Haiyan ZHU ; Qiyu SUN ; Guozhong GU ; Lingyu ZHANG ; Ying LI ; Baofeng YANG
Chinese Critical Care Medicine 2017;29(9):789-793
Objective To explore the relationship between angiogenin-1/2 (Ang-1/2) and clinical parameters of idiopathic pulmonary fibrosis (IPF), and to assess the value of Ang-1/2 in predicting the prognosis of patients with IPF.Methods A retrospective analysis was conducted. Ninety-one patients diagnosed as IPF by high resolution CT (HRCT) and lung biopsy admitted to Daqing Oil Field General Hospitalfrom March 2014 to January 2015 were enrolled. The general data, serum parameters and pulmonary function parameters of all patients were collected. After treatment, all of the 91 patients were followed-up to 2 years. The patients were divided into favorable prognosis group and unfavorable prognosis group according to follow-up results. The differences in all parameters between the two groups werecompared. The relationship between Ang-1, Ang-2 and lung function parameters was analyzed by Pearson correlation analysis. Cox proportional hazard regression model was used to evaluate the effect of clinical parameters on the prognosis of patients with IPF. The effect of Ang-2 in predicting prognosis of patients with IPF was analyzed by receiver operating characteristic (ROC) curve.Results During the 2-year follow-up period, 30 of 91 patients showed a favorable prognosis, and 55 showed an unfavorable prognosis with a poor prognosis rate of 64.71%, and 6 patients withdrew from the study due to loss of follow-up and death. Compared with the favorable prognosis group, Ang-2 level in the unfavorable prognosis group was significantly increased (μg/L: 2.88±1.63 vs. 1.89±1.22,t = 2.909,P= 0.005), but Ang-1 only showed a slight increase (μg/L: 28.70±14.26 vs. 25.62±11.95,t = 1.005,P = 0.318). The results of Pearson correlation analysis showed that Ang-2 level was negatively correlated with forced expiratory volume in 1 second (FVC1) and the percentage of carbon monoxide diffusing capacity accounting for the expected value (DLCO%;r value was -0.227 and -0.206, andP value was 0.147 and 0.253, respectively), but no significant correlation between the level of Ang-1 and FVC1 as well as DLCO% was found (r value was -0.153 and -0.121, andP value was 0.147 and 0.253, respectively). Cox proportional hazard regression model analysis showed that the prognosis of patients with IPF was significantly affected by smoking time and Ang-2 (bothP< 0.05), and the influence of Ang-2 was greater [relative risk (RR): 1.236 vs. 1.006, P= 0.037]. Age, gender, smoking and the levels of FVC1, DLCO% and Ang-1 had no significant effect on the prognosis of IPF patients (allP> 0.05). Prognostic analysis showed that the area under ROC curve (AUC) of Ang-2 for predicting prognosis of patients with IPF was 0.692, and the best diagnostic point was 0.35μg/L, the sensitivity was 61.8%, the specificity was 73.3%, the positive predictive value was 69.8%, and the negative predictive value was 65.7% which indicated that Ang-2 could predict the prognosis of patients with IPF.Conclusion Ang-2 could assess the prognosis of patients with IPF, which is expected to be used as an indicator of predicting the prognosis of patients with IPF.


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