Objective To observe the efficacy and safety of pleural perfusion of recombinant human endostain ( endostar) combined with cisplatin ( DDP) in lung cancer patients with pleural effusion.Methods 80 patients with pleural effusion of lung cancer from January 2011 to December 2014 in our hospital were selected and randomly divided into the treatment group and the control group two groups with 40 cases in each group.Recombinant human endostain and DDP were injected into pleural cavity in the treatment group, the same dose of DDP was injected into the control group.Pleural effusion, KPS, Toxic and the exepress of vascular endothelial growth factor ( VEGF) of pleural effusion were measured before and after treatment. Results After treatment, the clinical efficacy of the observation group (RR), quality of life improvement rate and the level of VEGF in pleural effusion was significantly higher than that in the control group, the difference was statistically significant (P <0.05).The level of VEGF in Bloody pleural effusion was higher than in the non-bloody pleural effusion in the treatment group, there was significant difference (P<0.05).The observation group was higher than that of non hemorrhagic pleural effusion VEGF , the difference was statistically significant ( P <0.05 ) , both of them could lead to the decrease of VEGF level after treatmen, but there was no statistical significance between the two groups.Conclusion Clinical efficacy of intrapleural injection of recombinant human endostatin combined with cisplatin in patients with lung cancer complicated with pleural effusion, low adverse reaction, it is speculated that the recombinant human endostatin can inhibit the growth of tumor and the formation of pleural effusion by inhibiting the expression of VEGF in combination with cisplatin, it could effectively improve the quality of life of patients and prolong life.

Objective To investigate the clinical significa nc e and the relationship between the serum squamous cell carcinoma antigen (SCC-A g) levels and the biological characteristics in patients with cervical carcinoma . Methods The pre-post-treatment sera from 500 patients w ith cervical carcinoma from 1998 to 2002 were analyzed for the SCC-Ag levels by IMX; and the correlation between the SCC-Ag level and the clinicopathologic ch aracteristics were also detected. Results Significant corre lation was found between the pre-treatment SCC-Ag level and pathologic classif ication, and clinical stage (P0.05); The pre-treatm ent SCC-Ag level is significantly higher than that of post-treatment (P

Objective To analyze outcome of pulmonary tuberculosis(TB) patients in different household in Shenzhen in 2008, and provide scientific basis for development of TB control strategy. Methods The data from monthly,quarterly,annual report as well as the TB report card and other related information were collected and analyzed. Results A total of 4 826 active pulmonary tuberculosis patients were found in 2008, in which 86.0% were mobile population;2 349 cases of new smear positive pulmonary tuberculosis patients were found;Mobile population cure rate of new smear positive(75.0%) was significantly lower than that of household population(P＜0.01). Mobile population moving out or loss rate of new smear positive(13.5%) was significantly higher than that of household population(P＜0.01). Conclusion Mobile population cure rate of new smear positive was lower and moving out or loss rate of new smear positive(13.5%) was higher. Mobile population TB control in Shenzhen was the key and difficult.

Objective To understand the situation of drug resistance( DR) and multi-drug resistance( MDRTB) tuberculosis in Shenzhen and provide scientific evidence for TB control in Shenzhen. Methods According to drug resistance TB guidelines issued by WHO/IUALD, all new smear positive cases and.new registered retreatment smear positive cases in 2005 and 2009 were included in the surveillance. A total of 1856 strains of mycobacterium tuberculosis were isolated and drug susceptibility test were performed with the proportional method. Results In 2005, the overall DR rate was 18. 3% , 17. 2% and 31. 3% for initial and acquired DR respectively, overall MDR rate was 4. 74% ,3.25% and 21.9% respectively for initial and acquired MDR. In 2009, the overall DR rate was 17.4% , 16% and 39. 3%for initial and acquired DR respectively,overall MDR rate was 3.8% ,3.02% and 16.4% respectively for initial and acquired MDR. In 2005,2009, the rates of acquired DR and acquired MDR were significantly higher than the rates of initial DR and initial MDR. Conclusion The incidence of TB drug resistance in Shenzhen was high and merits attention.

OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.
Child ; China ; Developmental Disabilities/genetics* ; Humans ; Language ; Mutation ; Pedigree ; Phenotype ; Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously. CONCLUSION The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Facies ; Hand Deformities, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Neck/abnormalities* ; Transcription Factors/genetics*

OBJECTIVE: To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation. METHODS: Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed. RESULTS: The child was found to harbor a heterozygous NM_001193416.3: c.1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents. CONCLUSION The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.
Child ; DEAD-box RNA Helicases/genetics* ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/genetics* ; Mutation ; Pedigree ; Pregnancy ; Exome Sequencing

Objective To explore the effect of first-line anti-tuberculosis treatment on vitamin D level in patients with pulmonary tuberculosis,and to master the changes of vitamin D level in the course of treatment,so as to provide a scientific basis for tuberculosis and nutrition health education in Shenzhen.Methods A total of 100 patients diagnosed as smear-positive pulmonary tuberculosis and receiving initial treatment in 2016 were enrolled and all the patients were treated with the standardized short-course chemotherapy regimens.The blood samples were extracted before treatment and at the ends of intensive and continuation phase.The 25-hydroxyvitamin D [25-(OH) D] concentrations were determined by chemiluminescence (CLIA) at each time point.The change of 25-(OH) D concentrations during anti-tuberculosis treatment was analyzed and the differences of vitamin D levels between different time points were identified.Results 79 (79.0％),94 (94.0％) and 96 (96.0％) patients were found vitamin D deficiency before treatment and at the end of the intensive and continuation phases respectively,which showed an upward trend (x2=15.543,P＜0.001) and the 25-(OH)D concentrations were (15.74±6.54) ng/ml,(12.56±5.15) ng/ml,(11.51±4.28) ng/ml,respectively.During the whole course of treatment,the 25-(OH) D concentration decreased by 26.9％ or (4.23 ± 6.75) ng/ml (t =6.257,P＜0.001),wherein it decreased (3.18 ± 5.24) ng/ml in intensive phase (t =6.069,P＜ 0.001) and (1.05±4.86) ng/ml in continuation phase (t =2.154,P =0.034).The former had a greater decreased value (t=2.836,P=0.006).There were 77 (77.0％) and 55 (55.0％) patients with 25-(OH)D concentration reduction in intensive and continuation phases respectively (x2 =9.680,P =0.003),of which 41 patients (41.0％) continued to decline.Conclusion Once anti-tuberculosis treatment is conducted,the vitamin D level will decrease rapidly in the intensive phase and continue decreasing throughout the course of treatment,which leads to a general lack of vitamin D in patients with primary pulmonary tuberculosis.First-line anti-tuberculosis drugs may be the main cause for vitamin D level reduction.Therefore,it is necessary for clinicians to strengthen vitamin D health education for each patient throughout the treatment period,especially for those at high risk of vitamin D deficiency who should be recommended adjuvant vitamin D supplementation therapy.

Objective To clarify the status of tobacco exposure and identify risk factors of smoking among smear-positive pulmonary tuberculosis patients in Shenzhen,in order to provide a scientific basis for the formulation of tuberculosis-tobacco control strategy in Shenzhen.Methods From January to December 2016,a special survey was carried out in 8 districts in Shenzhen.A unified questionnaire was used to make face to face interviews for 958 smear-positive pulmonary tuberculosis patients registered in 2016.Descriptive statistics was conducted to analyze the status of tobacco exposure.Single factor analysis and multiple logistic regression were used to identify the important risk factors of smoking.Results Among smear-positive pulmonary tuberculosis patients in Shenzhen,the rates of general smoking,current smoking,regular smoking were 40.9％,34.2％ and 30％,respectively.All smoking rates were higher among male than female participants (x2=255.226,197.463 and 162.707,respectively,and the P values were all＜0.001);164cases of heavy smokers accounted for 50.0％ of current smokers.Among 392 smokers,64 had quitted smoking,and the rate of smoking cessation was 16.3％.Among 566 nonsmokers,the rate of passive smoking from cohabiting smokers was 17.8％ (101/566),and it was higher in female than male participants (23.1％ vs.12.3％,x2=11.219,P=0.001).In single factor analysis,gender,work or living environment,age,education level,marital status,and body mass index were closely related to smoking (x2=255.226,28.375,40.922,29.585,9.117,and 7.052,respectively,and the P values were all＜0.05).In multiple logistic regression,the major risk factors for smoking included in the model were gender (x2=120.797,P＜0.001),age (x2=5.728,P=0.017),education level (x2=17.159,P＜0.001),mode of case-finding (x2=3.670,P=0.055),work or living environment (x2=6.039,P=0.049),and marital status (x2=5.091,P=0.078).Conclusion The smoking status of smear-positive pulmonary tuberculosis patients was serious in Shenzhen.Tuberculosis patients were the key smokers.We should provide accurate intervention and health guidance for patients,such as,macro policy guidance,instillation of knowledge,mental health intervention,and smoke-free environment.

Objective: To determine the levels of vitamin D in patients with pulmonary tuberculosis in Shenzhen and identify the influencing factors of vitamin D levels and key groups of vitamin D deficiency, so as to provide a scientific basis for tuberculosis- and nutrition-related health education and promotion in Shenzhen. Methods: Patients with smear-positive pulmonary tuberculosis who were diagnosed in 2016 were selected as the research subjects. Their relevant information and blood samples were collected, and the sample pool was established according to the inclusion criteria. One hundred and twenty patients were selected based on simple random sampling, including 84 men (70.0%) and 36 women (30.0%). Blood 25-hydroxyvitamin D [25(OH)D] concentrations were measured using chemiluminescence technology. Vitamin D statuses in patients were statistically described, and vitamin D levels in patients with different characteristics were compared. Multivariate linear regression analysis was performed to identify important factors influencing vitamin D levels in patients. Results: Mean serum concentration of 25(OH)D in 120 patients was (40.2±16.0) nmol/L. There were 2 cases of vitamin D sufficiency (1.7%), 28 cases of vitamin D insufficiency (23.3%), and 90 cases of vitamin D deficiency (75.0%), of which 23 cases (19.2%) were of severe deficiency. 25(OH)D concentrations in patients with different lifestyles (indoors; indistinguishable indoors or outdoors; outdoors) were significantly different (35.3 nmol/L vs. 40.6 nmol/L vs. 49.5 nmol/L, F=8.274, P<0.001). Mean concentration of 25(OH)D in patients with sun exposure time of >30 min/d was higher compared to that in those with sun exposure time <30 min/d in the last month (46.4 nmol/L vs. 36.7 nmol/L, t=3.342, P=0.001). Multivariate linear regression analysis showed that the risk factors for 25(OH)D with statistical significance were Han ethnicity or not (β=-11.576, t=-1.991, P=0.049), housekeeping (including unemployment and retirement) or not (β=-6.136, t=-1.998, P=0.048), sun exposure time<30 min/d or none (β=-9.644, t=-2.829, P=0.006), body mass index (β=-2.056, t=-3.439, P=0.001) , and indoor degree of lifestyles (β=-4.419, t=-2.155, P=0.033). Conclusion Level of vitamin D is generally insufficient in patients with pulmonary tuberculosis in Shenzhen. It is necessary to strengthen health education related to vitamin D in patients with tuberculosis, especially in the high-risk population of vitamin D deficiency, such as in those with a lack of exposure to sunlight or high BMI.