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1.
Chinese Journal of Radiological Health ; (6): 276-280, 2023.
Article in Chinese | WPRIM | ID: wpr-978429

ABSTRACT

Objective To analyze the administrative penalties for radiation diagnosis and treatment in Xuzhou, China, 2018—2021, investigate the key illegal behaviors in radiation diagnosis and treatment, and provide a basis for effective supervision with targeted measures. Methods A total of 142 cases of administrative penalties were analyzed for the year of the case, the undertaker, the basic information of the subjects, the amount of penalty, and the specific illegal facts. Results From 2018 to 2021, the case number of administrative penalties for radiation diagnosis and treatment in Xuzhou was relatively stable. The cases were mainly undertaken by the municipal health supervision institution, while the number of cases handled by basic-level health supervision institutions was increasing. The administrative penalties were mainly imposed on persons and primary or non-classified medical institutions. Common illegal behaviors included occupational health management of radiation workers and personal protection during medical exposure. Conclusion We should focus on strengthening the publicity and supervision of personal protection in occupational health management and medical exposure, continue to improve the law enforcement ability of basic-level radiation health supervisors, develop a standardized management system for radiation diagnosis and treatment, innovate the supervision mode and radiation hazard notification mode, promote the “Internet + ” informatization supervision, and recommend to improve and revise radiation-related laws and regulations.

2.
Journal of Environmental and Occupational Medicine ; (12): 878-882, 2022.
Article in Chinese | WPRIM | ID: wpr-960495

ABSTRACT

Background Non-occupational carbon monoxide (CO) poisoning is a public health problem that seriously affect people’s health and lives. Objective To describe the prevalence of non-occupational CO poisoning during 2007—2018 in Shanghai, analyze its epidemiological characteristics and potential influencing factors, and explore effective prevention and control measures. Methods Daily reported non-occupational CO poisoning cases and meteorological factors from 2007 to 2018 were collected in Shanghai, epidemiological characteristics were analyzed by descriptive epidemiology methods, and a distributed lag nonlinear model was used to assess the association between temperature and non-occupational CO poisoning. Results A total of 2264 non-occupational CO poisoning events and 3866 cases from 2007 to 2018 were reported in Shanghai, including 59 death cases. More than half of the poisoning cases were female (56.3%), and young adults accounted for more cases than any other age group (54.8%). The poisoning events mainly occurred in winter (from December to next February); however, cases reported in summer increased in recent years. The peak period of the events was from 20:00 to 24:00. Households (85.2%) and restaurants (8.0%) were the common places of non-occupational CO poisoning events, and the main cause was improper use of gas water heater (36.9%). A nonlinear curve was found between daily average temperature of current day and the occurrence of non-occupational CO poisoning. Temperature was negatively associated with the risk of non-occupational CO poisoning when the temperature was lower than 9.6 ℃, while a positive association was found during 9.7-26.0 ℃. Conclusion Winter is a high season for non-occupational CO poisoning in Shanghai, rising cases reported in summer is also worthy of attention. Supervision should be strengthened to ban sales of unqualified gas water heaters, and health education on CO poisoning prevention and control should be conducted through multiple channels, in order to reduce the incidence of CO poisoning.

3.
Journal of Environmental and Occupational Medicine ; (12): 730-736, 2022.
Article in Chinese | WPRIM | ID: wpr-960472

ABSTRACT

Background Air quality health index (AQHI) has been widely used to quantify the health effects of multiple pollutants observed in population-based epidemiological studies, and can better reflect the widespread linear non-threshold between air pollution and health effects. Objective To explore an AQHI for pediatric respiratory diseases (AQHIr) in Shanghai and evaluate its feasibility. Methods The daily numbers of hospital outpatient visits for pediatric respiratory diseases from 2015 to 2019 were obtained from five general hospitals in Xuhui, Baoshan, Hongkou, Jinshan, and Chongming Districts of Shanghai. Monitoring data on air pollutants (PM2.5, PM10, SO2, NO2, and O3), air quality index (AQI), and meteorological variables (temperature, relative humidity, air pressure, and wind speed) were collected from five air quality monitoring sites nearest to selected hospitals. Time-series analysis using generalized additive model (GAM) was conducted to estimate the associations between respiratory-related pediatric outpatient visits and the concentrations of air pollutants. The sum of excess risk (ER) of hospital outpatient visits was used to construct AQHIr. To assess the predictive power of AQHIr, the associations of AQHIr and AQI with the number of pediatric respiratory outpatient visits in three hospitals in Xuhui, Hongkou, and Chongming districts were compared. Results Air pollutants had various effects on respiratory diseases outpatient visits. PM2.5, NO2, and O3 had most significant impacts on lag0 day and the associated ERs of hospital outpatient visits for each 10 μg·m−3 increase in pollutant concentration were 1.27% (95%CI: 0.88%-1.66%), 0.75% (95%CI: 0.40%-1.11%), and 0.36% (95%CI: 0.10%-0.62%), respectively. PM10 and SO2 had most significant impacts on lag3 day and the associated ERs of hospital outpatient visits for each 10 μg·m−3 increase in pollutant concentration were 0.81% (95%CI: 0.51%-1.12%) and 5.64% (95%CI: 3.37%-7.96%), respectively. There were significant effects of combinations of two pollutants among PM2.5, PM10, NO2, SO2, and O3 except for PM10+NO2, SO2+PM2.5, and SO2+NO2 (P<0.05). According to the results of single-pollutant and two-pollutant models, PM2.5, NO2, SO2, and O3 were selected to construct AQHIr. The comparison showed that for every interquartile range increase in AQHIr, the ER for pediatric outpatient visits was higher than that for the value corresponding to AQI. Conclusion Air pollutants in Shanghai have an impact on the number of pediatric respiratory outpatient visits. The AQHIr based on and outpatient visits for pediatric respiratory diseases can be a sensitive index to predict the effects of air pollution on children's respiratory health.

4.
Chinese Journal of Gastroenterology ; (12): 121-123, 2021.
Article in Chinese | WPRIM | ID: wpr-1016261

ABSTRACT

Irritable bowel syndrome (IBS) is a functional bowel disorder characterized by abdominal pain and changes in bowel habits. IBS is a multifactorial, stress-sensitive disease. Epigenetic changes include DNA methylation change, histone modification, and differential expressions of microRNA and long non-coding RNA. Explaining the changes in IBS from the perspective of epigenetics could bring new insights for the pathogenesis and treatment of the disease. This article reviewed the progress in research on the epigenetics of IBS.

5.
Chinese Journal of Preventive Medicine ; (12): 93-96, 2019.
Article in Chinese | WPRIM | ID: wpr-810410

ABSTRACT

Objective@#To explore the related factors of death from severe heat stroke in Shanghai from 2013 to 2017.@*Methods@#The data of 1 152 patients with severe heat stroke who were divided into survival (n=1 037) and death (n=115) groups including gender, age and heat stroke type (heat cramp, heat exhaustion, heat apoplexy and the mixed type) were collected from meteorological bureau and case report system for high temperature heat stroke in Shanghai from 2013 to 2017. Meanwhile, the meteorological data of the onset date of severe heat stroke cases were collected, including maximum temperature, minimum temperature, daily temperature, relative humidity, air pressure, precipitation and wind speed. The differences of individual and meteorological factors between the two groups were compared, and multivariate logistic regression model was used to analyze the related factors of death from severe heat stroke.@*Results@#Among 1 152 cases, the mean±SD of age was (56.29±18.95) years old, 843 (73.18%)were male, 962 (83.51%) were in the heat wave period; 322 cases (27.95%) were heat cramp, 170 cases (14.76%) were heat exhaustion, 533 cases (46.27%) were heat apoplexy and 114 cases (9.90%) were the mixed type. Daily average temperature ((32.81±1.99) ℃), daily maximum and minimum temperatures ((38.20±2.24) ℃ and (29.22±1.94) ℃) in survival group were lower than those in death group (all P values<0.001), which were (33.76±1.17) ℃, (39.19±1.31) ℃ and (29.72±1.66) ℃. Daily average relative humidity ((60.36±9.75)%) and daily minimum relative humidity ((41.26±9.71)%) in survival group were higher than those in death group(allP values <0.05), which were (54.59±6.89)% and (35.60±7.24)%. The results of logistic regression analysis suggested that compared with the cases with daily average humidity <60% and a mixed type heat stroke, the death OR (95%CI) values of cases with daily average humidity >60%, heat cramp, heat exhaustion and heat apoplexy were 0.31 (0.18,0.54), 0.13 (0.05,0.34), 0.68 (0.58,2.30) and 0.87 (0.48,1.58).@*Conclusion@#The temperature, relative humidity and the type of heat stroke were the main related factors affecting the prognosis of severe heat stroke.

6.
Chinese Critical Care Medicine ; (12): 1011-1016, 2018.
Article in Chinese | WPRIM | ID: wpr-733947

ABSTRACT

Objective To evaluate the prognostic value of human antibacterial peptide LL-37 in elderly patients with sepsis. Methods Elderly sepsis patients over 65-year-old satisfied the diagnostic criteria for sepsis and septic shock admitted to intensive care unit of East Hospital of Tongji University from January 2016 to December 2017 were enrolled (elderly sepsis group). Aged community-acquired pneumonia (CAP) patients hospitalized during the same period were enrolled as a control group for pneumonia, and the aged health check-ups served as a healthy control group during the same period. The peripheral blood LL-37 levels of all patients on the 1st, 3rd, 7th day of admission and the results on the day of physical examination in the healthy control group and on the day of admission in aged CAP group were recorded. C-reactive protein (CRP), arterial blood lactate (Lac), procalcitonin (PCT) were monitored, and acute physiology and chronic health evaluation Ⅱ (APACHEⅡ) and sequential organ failure assessment (SOFA) scores were calculated based on the worst values within 24 hours. The correlation between LL-37 and various indicators was analyzed by Spearman method. According to the 28-day clinical outcome, the elderly patients with sepsis were divided into survival group and non-survival group. The differences in all parameters between the two groups were compared. The statistically significant indicators were analyzed by receiver operating characteristic (ROC) curve, and the predictive value of each indicator for prognosis was evaluated. Results ① A total of 113 elderly patients with sepsis were enrolled in the final analysis, including 67 patients in sepsis group and 46 patients in septic shock group. Thirty-two patients were enrolled as healthy controls and 31 elderly patients with CAP as elderly pneumonia group. The PCT, CRP, Lac, APACHEⅡ and SOFA scores of the patients in the three groups were higher than those of the healthy control group, and they were gradually increased with the severity of infection. There was no significant difference in gender or age among the groups. Compared with the healthy control group, the other three groups had higher LL-37 level after admission, the LL-37 levels in the sepsis group and the septic shock group were decreased with the prolongation of the hospitalization time, and they were lower than the pneumonia group at 7 days after admission [LL-37 (μg/L): 1 403.9±501.9, 1 517.1±676.4 vs. 1 608.4±816.2, both P > 0.05]. It was shown by correlation analysis that the LL-37 level in peripheral blood of elderly patients with sepsis was significantly negatively correlated with APACHEⅡ score (r = -0.329, P = 0.007) and SOFA score (r = -0.344, P = 0.005), but no significant correlation with Lac was found (r = -0.128, P = 0.311). ② The 28-day survival analysis revealed that of the 113 elderly patients with sepsis, 54 (47.8%) survived at 28 days and 59 (52.2%) died. There was no significant difference in gender, age, PCT or CRP levels at 1 day after admission between the two groups. The 1-day Lac, APACHEⅡ and SOFA scores of the patients in the non-survival group were significantly higher than those in the survival group, they were gradually increased with the prolongation of the hospitalization time, and they were significantly higher than those in the survival group at 7 days after admission [Lac (mmol/L): 2.4 (1.4, 4.4) vs. 1.0 (0.8, 1.7), APACHEⅡ score: 21.77±5.85 vs. 13.74±4.99, SOFA score: 9.62±4.78 vs. 3.18±2.71, all P < 0.01]. With the prolongation of admission, there was no significant change in LL-37 level of peripheral blood in the survival group. The LL-37 level in the non-survival group showed a downward tendency, and it was significantly lower than that in the survival group at 7 days after admission (μg/L: 1 277.8±642.6 vs. 1 620.6±461.6, P < 0.05). It was shown by ROC curve analysis that the LL-37 in peripheral blood, Lac, APACHEⅡ score and SOFA score at 7-day of admission of elderly patients with sepsis had predictive value for prognosis, and LL-37 had the best predicted effect for 28-day death, the area under the ROC curve (AUC) of LL-37 was 0.670, 95% confidence interval (95%CI) = 0.513-0.757, when the optimal cut-off value was 1 283.0 μg/L, the sensitivity was 75.7%, and the specificity was 61.5%. Conclusions The expression of LL-37 increased in the early course of the disease in elderly patients with sepsis. However, as the disease progressed and worsened, the level of LL-37 had a decline tendency and was associated with death. The dynamic monitoring of LL-37 combined with APACHEⅡ and SOFA scores had clinical guidance value in predicting the prognosis of sepsis in the elderly.

7.
Journal of Shanghai Jiaotong University(Medical Science) ; (12): 344-347, 2017.
Article in Chinese | WPRIM | ID: wpr-515183

ABSTRACT

Objective · To investigate whether the quality of embryos will result in biochemical pregnancy or arrest of embryo development in the freezing and thawing cycles of in-vitro fertiliazation-embryo transfer (IVF-ET). Methods · The clinical data of patients who accepted IVF-ET in Center of Reproductive Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from January 2015 to June 2016 were retrospectively studied. The data includes 115 cycles of biochemical pregnancy, 64 cycles of arrest of early embryonic development and 871 cycles of ongoing pregnancy after frozen thawed embryo transfer. We compared the embryo score on the third day after embryo transfer (D3), the blastocyst development rate and the blastocyst grade in the three groups. Results · There were no significant differences in the period of infertility, the age of the patients and their spouses, the endometrial thickness, the estrogen and progestogen levels of the day of transplantation among the three groups (P > 0.05). The scores of most frozen thawed embryos on D3 were from 6 to 8, and the scores were not statistically significant among the three groups (P > 0.05). The proportion of transplanted blastocyst on D5 was higher than that on D6 in the three groups, but there was no significant difference among the three groups (P > 0.05). There was no significant difference in the proportion of inner cell mass of blastocysts which were scored as Grade A&B or Grade C among the three groups. Nevertheless, in the arrest of early embryonic development group, the proportion (52.2%) of the trophoblast of blastocysts which were cored as Grade C was significantly higher than the proportion (35%) in biochemical pregnancy group and the proportion (29.3%) in ongoing pregnancy group (P<0.05). Conclusion · The quality of embryos is not necessarily related to biochemical pregnancy, but the score of trophoblastic may be related to the arrest of early embryo growth.

8.
China Pharmacist ; (12): 864-866, 2017.
Article in Chinese | WPRIM | ID: wpr-610170

ABSTRACT

Objective: To compare the clinical effect of Xuebijing or ulinastain combined with the conventional treatment for chronic obstructive pulmonary disease with acute exacerbation (AECOPD) complicated with systemic inflammatory response syndrome(SIRS).Methods: Totally 82 AECOPD patients with SIRS were randomly divided into group A and group B with 41 ones in each and both groups were treated with the conventional therapy.Group A was treated with ulinastatin (dissolved in 100 ml 0.9% sodium chloride injection, intravenous infusion, once daily), group B was given 50ml Xuebijing injection (mixed with 100 ml saline, intravenous infusion, twice a day).The lung function test, blood gas analysis and inflammatory factors were carried out in both groups.Results: After treatment, the lung function indices of FEV, FEV1 and FEV1/FVC in group A and B were significantly higher than those of before treatment (P0.05).Conclusion: The clinical effect of Xuebijing or ulinastain combined with the conventional treatment is promising for AECOPD complicated with SIRS.Xuebijing injection combined with the conventional treatment shows better effect on the improvement of lung function and blood gas, and the levels of inflammatory cytokines can be reduced more significantly, which is also safe in the clinical application.

9.
Journal of Zhejiang Chinese Medical University ; (6): 298-300, 2017.
Article in Chinese | WPRIM | ID: wpr-513980

ABSTRACT

[Objective]The paper was designed to introduce the Professor YE Jin's personal clinical experience which can provide an effective means for other pediatrician.[Method]By introducing the Professor YE Jin's personal clinical experience,we summarize the effective therapies about the infantile recurrent abdominal pain(RAP). [Result]According to the Professor YE Jin, the pathomechanism of RAP includes mainly cold stagnation, the indigestion, parasite and Qi stagnancy. RAP caused bycoldcan be treated from warming the middle-energizer and fending off the cold,RAP resulting from retention of food can be cured by removing the retention and invigorating the stomach, RAP incurred by ascaris can be cured by relieving ascariasis,expelling parasite and purgation simultaneously,and RAP resulting from Qi stagnation can be cured by soothing liver, regulating qi activity, rather than relieving pain merely. Based on the above-mentioned theory,she tends to use Liquorice and prefers Paeonia a lot in curing the disease, that is always effective in clinic as a result.The recurrence rate is also lower.One case was provided for verification.[Conclusion]Professor YE Jin thinks that warming the middle-energizer and fending off the cold, removing the retention and invigorating the stomach, the RAP can be improved the curative effect,and that can provide another idea for other clinicians.

10.
Chinese Journal of Experimental and Clinical Virology ; (6): 302-306, 2017.
Article in Chinese | WPRIM | ID: wpr-808474

ABSTRACT

Objective@#To evaluate the clinical value of high-risk humam papillomavirus(HR-HPV) genotyping in diagnosis of cervical lesions.@*Methods@#Between December 2012 and March 2015, a total of 4 095 women who were diagnosed as cervical inflammation-related disease were chosen to be evaluated in gynecological clinic at Taizhou Hospital of Zhejiang Province. All the women experienced HPV genotyping, analysis of the epidemiological characteristics of HPV types in Taizhou area and theresult of histopathologic diagnosis of HPV positive women. Logistic regression analysis was used to estimate the risk of HR-HPV genotyping in cervical lesion progression.@*Results@#Overall, HPV52 was the most prevalent genotype, followed by HPV16, 58, 39 and 56. Among the women with cervical intraepithelial neoplasm (CIN), HPV16 was the most frequent type, followed by HPV52, 58, 33 and 31. Logistic regression analysis showed that a higher risk of CIN2+ for women infected with HPV16 or HPV33, the regression coefficients OR were 3.670(95%CI: 2.399-5.612, P<0.05) and 2.045(95%CI: 1.087-3.848, P<0.05), respectively. Logistic regression analysis showed that a higher risk of CIN2+ for NILM with positive HPV16, and the regression coefficients OR were 2.539(95%CI: 1.622-3.976, P=0.000); the ASCUS with positive HPV16 and 58 had higher risk of CIN2+ , the regression coefficients OR were 1.911(95%CI: 0.530-6.893) and 1.757(95%CI: 0.557-5.548), respectively.@*Conclusions@#HPV genotyping has important clinical value to detect precancerous cervical lesions, especially when cervical cytology is negative, in management of patiemts with atypical squamous cells of an undertermined significance(ASCUS) or low grade squamous intraepithelial lesion(LSIL).

11.
Journal of Chinese Physician ; (12): 1850-1852, 2017.
Article in Chinese | WPRIM | ID: wpr-705762

ABSTRACT

Objective To investigate the expression of glucagon-like peptide-1 receptor (GLP-1R) of skeletal muscle cells and the changes of skeletal muscle microstructure of diabetic rats, and to explore the relationship between the expressions of GLP-1R and insulin resistance in skeletal muscle. Methods Male Wistar rats were divided into two groups, normal glucose tolerance ( NT, n =25 ) , diabetes group ( DM group, n=30), the methods of creating diabetes model were used high-sugar high-fat diet and low-dose in-traperitoneal injection of streptozotocin. Immunohistochemical methods was used to detect the expression of GLP-1R in the muscle cells. The number of GLP-1R positive cells in the muscle of two groups was observed and compared. The relationship was analyzed between the homeostasis model assessment insulin resistance (HOMA-IR) and the number of GLP-1R positive cells. Results ⑴Compared to the NT group, the num-ber of GLP-1R positive cells in muscle of DM group was decreased (P<0. 05); ⑵ Compared to the NT group, HOMA-IR was increased in DM group (P<0. 05);⑶ Pearson correlation analysis showed that the percentage of GLP-1R positive cells expressed in rat skeletal muscle was negatively correlated with HOMA-IR (r= -0. 538, P<0. 01). Conclusions The expression of GLP-1R positive cells was decreased in the skeletal muscle of diabetic rats, insulin resistance increased. Therefore, the expression of GLP-1R on skele-tal muscle cells may promote the development of insulin resistance and diabetes mellitus.

12.
Chinese Critical Care Medicine ; (12): 673-678, 2017.
Article in Chinese | WPRIM | ID: wpr-618147

ABSTRACT

Objective To explore the predicting value of peripheral blood CD20+ CD24hi CD38hi regulatory B cells (Bregs) on the prognosis of elderly patients with sepsis.Methods A prospective study was conducted. Septic patients aged > 65 years old, compliance with diagnostic criteria for Sepsis-3, admitted to emergency and emergency intensive care unit (ICU) of Shanghai East Hospital of Tongji University from April 2016 to February 2017 were enrolled. Procalcitonin (PCT), C-reaction protein (CRP) and lactate (Lac) were routinely measured. According to the worst clinical index value within 24 hours, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score and sequential organ failure assessment (SOFA) score were recorded. The concentrations of peripheral blood CD20+ CD24hi CD38hi Bregs were measured by flow cytometry at 1, 3 and 7 days after diagnosed in elderly patients. All patients with sepsis were followed up for 28 days and then divided into death group and survival group according to 28-day outcome. The difference of clinic data and Bregs were compared between the two groups. The significant different factors of elderly sepsis patients were analyzed by binary logistic regression analysis. The correlation between Bregs level and other indicators was analyzed by Spearman correlation. The receiver operating characteristic curve (ROC) was used to evaluate the prognosis value of Bregs in elderly patients with sepsis.Results Fifty-eight patients were enrolled in the study, with 38 male and 20 female; age of (79.91±7.97) years; 32 in sepsis group, 26 in septic shock group; 35 deaths, 28-day mortality rate was 60.3%. APACHE Ⅱ score and SOFA score in death group exhibited much higher than that in survival group (APACHE Ⅱ: 18.14±4.52 vs. 14.91±3.56, SOFA: 8.80±4.56 vs. 6.35±3.00, bothP < 0.05), the Bregs was significantly decreased at 1, 3 and 7 days in death group [cells/μL: 0.70 (0.20, 1.40) vs. 1.50 (0.70, 2.20), 0.54 (0.20, 1.00) vs. 1.42 (1.10, 2.12), 0.25 (0.10, 0.50) vs. 0.80 (0.50, 1.00), allP < 0.05]. Correlation analysis showed that the concentrations of peripheral blood Bregs at 1 day in elderly patients with sepsis was negatively correlated with APACHE Ⅱ score (r = -0.351,P = 0.007), and it was not correlated with PCT, CRP, Lac or SOFA score. It was shown by binary logistic regression that Bregs [odds ratio (OR) = 1.865,P = 0.028] and APACHE Ⅱ score (OR = 0.853,P = 0.026) were independent risk factors for elderly sepsis outcome. It was shown by ROC curve analysis that the prognostic value of the levels of Bregs at 1, 3, 7 days and APACHE Ⅱ score were higher in the elderly patients with sepsis, and the area under ROC curve (AUC) and 95% confidence interval (95%CI) were 0.842 (0.647-0.954), 0.770 (0.564-0.911), 0.888 (0.703-0.977), 0.855 (0.661-0.961), respectively, allP < 0.01. The 7-day Bregs was most powerful to predict outcome, when the cut-off value was 0.50 cells/μL, the sensitivity was 72.73% and specificity was 86.67%. Conclusions The level of peripheral blood CD20+ CD24hi CD38hi Bregs could predict the clinical outcome of elderly patients with sepsis.

13.
Chinese Journal of Medical Genetics ; (6): 826-830, 2017.
Article in Chinese | WPRIM | ID: wpr-344167

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis.</p><p><b>METHODS</b>Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts.</p><p><b>RESULTS</b>DNA sequencing showed the proband of family 1 has carried a novel maternal UBE3A splice acceptor site mutation, resulting in a guanine-to-cytosine transversion (IVS15-1G>C). Reverse transcription PCR revealed the proband and his mother both carried heterozygous mutant transcripts with loss of 54 and 59 nucleotides in exon 16, respectively. The proband displayed severe mental retardation, ataxia, seizures and inappropriate laughter. The siblings of family 2 has carried a novel maternal missense mutation in exon 16 of the UBE3A gene (c.2540C>T). She also presented with mental retardation, absent speech, mild ataxia and inappropriate laughter.</p><p><b>CONCLUSION</b>The novel IVS15-1G>C and c.2540 C>T mutations of the UBE3A gene probably underlie the AS in the two families. Compared with small-scale mutations, larger fragments mutations can produce more severe phenotypes.</p>


Subject(s)
Female , Humans , Male , Angelman Syndrome , Genetics , Karyotyping , Mutation , Ubiquitin-Protein Ligases , Genetics
14.
Chinese Journal of Medical Genetics ; (6): 490-493, 2016.
Article in Chinese | WPRIM | ID: wpr-247651

ABSTRACT

<p><b>OBJECTIVE</b>To determine the genetic cause for two mentally retarded patients from a family, and to correlate their genotypes with clinical phenotypes.</p><p><b>METHODS</b>Routine G-banded karyotyping analysis was performed. Single nucleotide polymorphism (SNP) microarray analysis was used to detect microdeletions or microduplications. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of chromosomal abnormalities.</p><p><b>RESULTS</b>Both proband and his uncle showed a normal karyotype. SNP microarray analysis has identified a 1.147-Mb microdeletion at 16p13.3 (85 880-1 233 819) and a 2.948-Mb microduplication at 19q13.42-q13.43 (56 008 597-58 956 816). FISH analysis confirmed that the patient has inherited a derivative chromosome 16 from his father. The proband presented with mental retardation, reduced speech, and facial dysmorphism (hypertelorism, down-slanting palpebral fissure, low nasal bridge and wide gap between front teeth). His uncle presented with a milder phenotype with mental retardation.</p><p><b>CONCLUSION</b>Both the proband and his uncle have carried a chromosome microdeletion at 16p and microduplication at 19q, which were originated from their fathers carrying a balanced t(16;19) translocation. Combined SNP microarray analysis and FISH assay are useful for the detection the copy number variations and delineation of potential structural changes, which may help with evaluation of recurrence risk for this family.</p>


Subject(s)
Adult , Child , Humans , Male , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 19 , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide , Translocation, Genetic
15.
Journal of China Medical University ; (12): 365-367, 2016.
Article in Chinese | WPRIM | ID: wpr-486647

ABSTRACT

Objective To detect the expression of TRIM24 in uroepithelium cell carcinoma of bladder(BUCC)and analyze the relationship be?tween its expression and clinical pathological factors. Methods Immunohistochemical methods were employed to evaluate protein level of TRIM24 in BUCC. Results TRIM24 expression was observed in the nuclear compartments of tumor cells,while normal epithelia of bladder tissues exhibited negative results. For 72 BUCC tissues,TRIM24 overexpression(score≥4)was observed in 41.6%of cases(30/72). TRIM24 expression correlat?ed with invasive depth(P=0.029)and patients with high TRIM24 expression had high grade of BUCC(P=0.043). Conclusion There was sig?nificant over expression of TRIM24 in BUCC,which was correlated with poor differentiation and high grade of BUCC. It may become a candidate tar?get gene for the treatment of human uroepithelium cell carcinoma of bladder.

16.
Chinese Journal of Microbiology and Immunology ; (12): 954-958, 2016.
Article in Chinese | WPRIM | ID: wpr-506437

ABSTRACT

Human leukocyte antigen G ( HLA-G) is a member of the non-classical HLA classⅠb family. It is considered to play a crucial role in immune tolerance. A unique feature of HLA-G is the struc-tural diversity as surface expressed and as secreted molecules, which is mainly attributed to alternative spli-cing of the primary transcript. HLA-G can promote the invasion and metastasis of tumor cells through various ways. In addition, HLA-G has been described included in exosomes. Exosomes released by most cell types are nano-sized vesicular bodies that contain lipid bilayer and rich contents. As a new marker for diseases, exosomes are extensively involved in the occurrence and development of diseases. Recent studies have found that exosomes can express soluble HLA-G, which reveal a new way by which HLA-G regulates tumor micro-environment. In this review, we focus on the expression of HLA-G on exosomes to provide new thoughts for the early detection and treatment of tumors.

17.
Chinese Journal of Applied Clinical Pediatrics ; (24): 522-526, 2016.
Article in Chinese | WPRIM | ID: wpr-489731

ABSTRACT

Objective To explore the protective role of lipoxin A4 (LXA4) during early process of atherosclerosis formation in rats with juvenile metabolic syndrome (MS).Methods Rat models of juvenile MS were established with 3-week Sprague-Dawley (SD) rats fed on high-carbonhydrates and high-fat diet for 6 weeks.The other qualified ones were randomly grouped into model group,LXA4 low-dose group,LXA4 middle-dose group,and LXA4high dose group,and a control group fed with normal forage.The low,middle,high-dose groups were injected different doses of LXA4 daily,while the model group and control group were injected with the same dose of isotonic NaCl solution for 2 consecutive weeks.After 2-week medication,the visceral adipose tissue were isolated by laparotomy and heart blood collected by thoracotomy under anesthesia,followed the fixation of thoracic and abdominal aortas in the immobilized rats.The mRNA expression level of inflammation cytokines interleukin-6 (IL-6),tumor necrosis factor-α (TNF-α),C-reactive protein (CRP) in the adipose tissue were determined by semi-quantitative reverse transcription PCR (RT-PCR),respectively.Secretions of IL-6,and TNF-α in serum were determined by enzyme linked immunosorbent assay (ELISA).Immunocytochemistry was used to label endomembrane and middle-membrane of thoracic aorta,and endothelial cell layer in each group and the ratios of thickness of endomembrane and middle-membrane were compared.Results Compared with the control group,weight,body length and abdominal circumference of juvenile MS rats increased significantly (all P < 0.05),and levels of fasting plasma glucose (FPG),triglyceride (TG),high density lipoprotein cholesterol (HDL-C) and insulin in models increased significantly (P < 0.05).RT-PCR showed that the mRNA expressions of inflammatory cytokines IL-6,TNF-α and CRP in adipose tissue in model rats were upexpressed (all P < 0.05).Compared with model rats,mRNA of IL-6,TNF-oα,and CRP in mid,high-dose rats were downexpressed (all P < 0.05),mRNA of TNF-α in low-dose rat downexpressed (all P < 0.05),and there were no significant differences between mRNA expressions of IL-6,CRP in low-dose and model rats according to statistics (all P >0.05).Compared with control group,inflammatory cytokines IL-6,TNF-α secreted in serum of model rats were increased significantly (all P < 0.05),and inflammatory cytokines secreted in serum of intervention rats were decreased significantly compared with model rats (P < 0.05).Pathological changes were as follows:HE staining:compared to model group,aortic tunica intima of model rats were remarkably thickened and endothelial cell layer was fragmented and incomplete,which was attenuated in each intervention group.The ratios of endomembrane and middle-membrane in rats:at the end of consecutive medication for 2 weeks,the ratios of endomembrane and middle-membrane in model rats were significantly greater than those of control group (P < O.05),and the ratios of endomembrane and middle-membrane in high-dose intervention rats were significantly smaller than those of the model group (P < 0.05),but still greater than control group,while there were no statistical differences between the ratios in low,middle-dose intervention rats and model rats (P > 0.05).Conclusions The increasing inflammatory cytokines are involved in early process of atherosclerosis formation in rats with juvenile MS.LXA4 by reducing the expression of inflammatory factor level in adipose tissue,thereby reducing the inflammatory cytokines in serum,alleviate the damage of arterial wall.

18.
Chinese Journal of Microbiology and Immunology ; (12): 595-599, 2015.
Article in Chinese | WPRIM | ID: wpr-479196

ABSTRACT

Objective To investigate the associations between single nucleotide polymorphisms in the gene encoding human leukocyte antigen-G ( HLA-G) and the genetic susceptibility to high risk human papillomavirus ( HPV) type 18 infection in the subjects from Taizhou, Zhejiang province. Methods The genetic polymorphisms of HLA-G gene (14 bp In/Del and +3142C/G) in cervical samples collected from HPV 18-positive and healthy women were analyzed by PCR and gene sequencing technology. Statistical anal-ysis was performed by using SPSS version 16. 0. Chi-squared test was used to analyze the differences with HLA-G gene allele and genotype frequencies between healthy subjects and patients. Results Compared with healthy subjects, women with oncogenic HPV18 infection showed lower frequencies of -14 bp allele,-14 bp/-14 bp genotype and -14 bp/+3142C haplotype (P<0. 05). Moreover, lower frequencies of+3142C/C genotype were detected in HPV18-infected women with pathologically normal cervix (6. 3% vs 21. 1%, OR=0. 25, P<0. 05) and higher percentages of +3142G/G genotype were detected in women with CIN2/3 stage HPV18 infection as compared with those of the control group (68. 8% vs 35. 1%, OR=4. 06, P<0. 05). Conclusion The HLA-G gene 3′ UTR polymorphisms were closely associated with HPV18 in-fection and cervical intraepithelial neoplasia.

19.
Chinese Journal of Radiological Medicine and Protection ; (12): 416-419, 2011.
Article in Chinese | WPRIM | ID: wpr-424130

ABSTRACT

Objective To evaluate the radioprotective effect of vanillin derivative VND3207 on DNA damage induced by different LET ionizing radiation.Methods The plasmid DNA in liquid was irradiated by 60Co γ-rays, proton or 7Li heavy ion with or without VND3207.The conformation changes of plasmid DNA were assessed by agarose gel electrophoresis and the quantification was done using gel imaging system.Results The DNA damage induced by proton and 7Li heavy ion was much more serious as compared with that by 60Co γ-rays, and the vanillin derivative VND3207 could efficiently decrease the DNA damage induced by all three types of irradiation sources, which was expressed as a significantly reduced ratio of open circular form (OC) of plasmid DNA.The radioprotective effect of VND3207 increased with the increasing of drug concentration.The protective efficiencies of 200 μmol/L VND3207 were 85.3% (t =3.70,P =0.033), 73.3% (t = 10.58, P =0.017)and 80.4% (t =8.57,P =0.008)on DNA damage induction by 50 Gy of γ-rays, proton and 7Li heavy ion, respectively.It seemed that the radioprotection of VND3207 was more effective on DNA damage induced by high LET heavy ion than that by proton.Conclusions VND3207 has a protective effect against the genotoxicity of different LET ionizing radiation, especially for γ-rays and 7 Li heavy ion.

20.
Chinese Journal of Microbiology and Immunology ; (12): 982-986, 2010.
Article in Chinese | WPRIM | ID: wpr-383071

ABSTRACT

Objective To establish the expression of membrane-bound HLA-G1-G4 isoforms in choriocarcinoma cell line JAR and to investigate its roles in NK cytotoxicity in vitro. Methods Stable expression of HLA-G1, -G2, -G3 and -G4 in JAR cells was established by gene cloning and transfection.HLA-Gtranscripts and protein expression in the transfected JAR cells was tested by RT-PCR, flow cytometry, Western blot and immunocytochemistry, respectively. High-affinity peptide KIPAQFYIL pulsing was performed to evaluate its effects on HLA-G expression. Effects of HLA-G1-G4 isoforms on NK cytotoxicity was performed with lactic dehydrogenase (LDH) releasing method. Results RT-PCR, Western blot and immunocytochemistry results showed that exogenous HLA-G1-G4 gene were successfully transfected and proteins were stably expressed in the HLA-G negative JAR cells; Flow cytometry data showed that only HLAG1, but not HLA-G2-G4 isoform was detectable in those transfected JAR cells and the peptide pulsing did not affect their expression status. However, all HLA-G1-G4 isoform expressed JAR cells could significantly decreased the NK cell cytotoxicity (P<0.05). Conclusion HLA-G1-G4 isoform expression could dramatically inhibit NK-92 cell lysis, indicating that membrane-bound HLA-G isoforms are importantly immunotolerant and may play immune regulation roles in various physio-pathological situations.

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