Purpose To investigate the consistency of the"Standards and guidelines for the interpretation and reporting of sequence variants in cancer"published in 2017 by the Associa-tion for Molecular Pathology(AMP)/American Society of Clini-cal Oncology(ASCO)/College of American Pathologists(CAP).Methods Sixty variants of 26 genes from 11 types of cancer were selected.5 professionals from four hospitals e-quipped with in-hospital NGS detection ability were used to in-terpret the treatment,diagnosis and progenosis respectivly.In the first phase of the study,each researcher rated the variants individually according to their own understanding of the 2017 guideline.In the second phase,the details of the guidelines'e-valuation principles were discussed and interpreted again after reaching a consensus.Results Eleven principles recognized by all participants were summarized as a supplement to interpreta-tion.Fleiss consistency showed that the consistency of interpre-tation of treatment and prognostic significance in the second stage was higher than that in the first phase(κ value was 0.166 vs 0.276,0.014 vs 0.185).The consistency of interpretation of diagnostic significance in the second stage was lower than that in the first phase(κ value was 0.454 vs 0.035).Conclusion There is inconsistency in the clinical interpretation of tumor gene variation among different laboratories.It is feasible for laborato-ries to establish a mutually recognized interpretation system for the clinical diagnosis,treatment,and prognosis of tumors.

Objective To understand the epidemiology and trends of of unintentional injury deaths of children <5 years of age in Suzhou during 2016-2020 and to provide injury prevention and policy implications basis. Methods Surveillance data of children <5 years of age in 2016-2020 were collected，descriptive analysis and Chi-square test were used to analyze the epidemiological characteristics of injury deaths among children. Results The death rate of unintentional injury deaths demonstrated decreased from 80.17/100 000 in 2016 to 77.84/100 000 in 2020; The proportion of drowning and traffic accidents in migrant children was significantly higher than local children（χ²=16.44 , χ²=5.284 , P＜0.05）. The three leading causes of unintentional injury deaths were drowning (2.30/10000), suffocation (1.90/10000), and traffic accidents (1.42/10 000). Drowning among boys was 8.74 per cent, which was significantly higher than in girls（χ²=9.36，P＜0.05）. Drowning was the leading cause in boys, while suffocation was the leading cause of accidental death in girls. Accidents accounted for 57.49% of all deaths among children aged 1 to 4 years. Suffocation was the leading cause in children <1 year of age, but drowning（38.62%）was more prominent in children 1-4 years of age. Suffocation has high incidence in the winter, and drowning has high incidence in the summer season（P＜0.05）. Conclusions Effective childhood injury prevention may require different prevention policies combination depending on epidemiological characteristics such as genders, age groups，household register and seasons. The prevention programs should be carried especially the floating population.

Sleep disorder is common in patients with asthma, especially in patients with severe asthma.Sleep disorder correlates with poor asthma control and poor quality of life.Sleep disorder in asthmatic patients may be related to the circadian variation in airway physiology and airway inflammation, but may also be related to specific sleep disorders such as obstructive sleep apnea(OSA), gastroesophageal reflux, obesity, psychological problems, etc.OSA is an independent risk factor for poor asthma control.At the same time, asthma will aggravate OSA.Treatment of OSA with continuous positive airway pressure(CPAP)may lead to improved asthma-specific quality of life.

Objective:To summarize the clinical characteristics of plastic bronchitis caused by severe mycoplasma pneumoniae pneumonia in children, to find the risk factors for plastic bronchitis, and to provide references for judging the prognosis and comprehensively formulating treatment plans.Methods:We retrospectively analyzed the clinical data(146 cases)of children with severe mycoplasma pneumoniae pneumonia who underwent bronchoscopy in the Department of Pediatric Respiratory Medicine of Shengjing Hospital of China Medical University from January 2017 to December 2019.According to whether it was plastic bronchitis, all patients were divided into plastic bronchitis group(68 cases) and non-plastic bronchitis group(78 cases), and the gender, age, laboratory examination indicators, imaging characteristics and treatment of children were collected under the circumstances.The single factor with clinical significance and statistical significance would be subjected to multivariate Logistic regression analysis.Results:There were no significant differences in gender, age, heat duration, white blood cell count, C-reactive protein value, and interleukin-6 value between the two groups(all P>0.05). The percentage of neutrophils, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, D-dimer, number of cases of pleural effusion, length of hospital stay, and number of endoscopy in the plastic bronchitis group were higher than those in non-plastic bronchitis group, the number of right upper lobe consolidation cases was less than that in the non-plastic bronchitis group, and the differences were statistically significant( P<0.05). Multiple Logistic regression analysis showed that pleural effusion( OR=4.898, 95% CI 2.195-10.926) and lactate dehydrogenase ( OR=1.051, 95% CI 1.003-1.101) were independent predictors of plastic bronchitis in children with severe mycoplasma pneumoniae pneumonia. Conclusion:For children with severe mycoplasma pneumoniae pneumonia, if lung CT shows that the upper lobe of the non-right lung is uniformly compacted and complicated with pleural effusion, lactate dehydrogenase is significantly increased, and attention should be paid to the possibility of plastic bronchitis.Timely improvement of fiberoptic bronchoscopy may shorten the course of the disease and reduce the occurrence of complications.

Objective:To analyze the epidemiological characteristics of rubella and the genetic characteristics of rubella virus (RV) circulated in Qinghai province in 2020, so as to provide scientific basis for optimization and improvement of local rubella prevention and control strategy.Methods:The rubella epidemiological characteristics were analyzed by summarizing the data on the rubella incidence in Qinghai province in 2020 from the National Notifiable Disease Reporting System. Through Qinghai provincial measles and rubella laboratory network, throat swab samples from susceptible rubella outbreak and sporadic cases in 2020 were collected and identified. RV strains were obtained after three passages of virus isolation from positive samples. After extracting the viral RNA, the 739 nucleotide fragments within the E1 gene were amplified and determined to identify the genotype and sub-genotype of the Qinghai strains in 2020 and further analyzed the molecular differences between Qinghai strains and the RV strains circulated in China.Results:In 2020, the rubella incidence in Qinghai province had shown an obvious upward trend, and the age of onset had shifted to adolescents in the 10-19 years of age group (accounting for 94.9%). Totally 29 RV strains were isolated from four high incidence areas of rubella in Qinghai province. All RV strains were identified as sub-genotype 2B-L2c, which is also the dominant subtype of RV circulated in China. In addition, virological surveillance data showed that there were different transmission chains of sub-genotype 2B-L2c in Qinghai province in 2020, and an outbreak might be caused by different transmission chain viruses.Conclusions:The accumulation of rubella susceptible population aged 10-19 years and the transmission of new imported 2B-L2c virus had led to the rubella reemergence and outbreaks in several cities in Qinghai province in 2020.

Objective:To investigate MAML2 gene rearrangement, gene fusion patterns, and the clinicopathological characteristics of primary pulmonary mucoepidermoid carcinoma (PMEC).Methods:Forty-six cases of primary PMEC from Fudan University Zhongshan Hospital and Fudan University Shanghai Cancer Center between 2017 and 2020 were collected. MAML2 gene rearrangement in all cases was detected by fluorescence in situ hybridization (FISH). In 20 cases, MAML2 fusion patterns were detected by targeted RNA sequencing (RNAseq). The relationship between MAML2 gene rearrangement, fusion patterns, clinicopathological characteristics, and prognosis was analyzed.Results:The average age of PMEC patients was 41 years (range 15-71 years); the ratio of male to female was about 1.1 ∶ 1.0. Most PMECs were low grade in histopathology with an early clinical stage (stageⅠ-Ⅱ).The overall positive rate of MAML2 gene rearrangement detected by FISH was about 80.4% (37/46), and the rate was higher in low-grade PMEC (91.7%, 33/36). Of the 20 cases detected by RNAseq, all the 19 FISH positive cases showed gene fusion, mainly CRTC1-MAML2 fusion (16/19), the other three cases showed CRTC3-MAML2 fusion (3/19), the break point of all the fusion patterns was CRTC1/3 (exon 1)-MAML2 (exon 2); No gene fusion was detected in the single FISH negative case; Compared with the MAML2 FISH negative patients, the PMECs carrying CRTC1-MAML2 fusion were more commonly found in patients age ≤ 40 years, maximum tumor diameter ≤ 2 cm, low histopathological grade and early clinical stage (all P<0.05); The three PMECs carrying CRTC3-MAML2 fusion gene were all female with early clinical stage; Univariate analysis showed that MAML2 gene rearrangement/fusion, onset age ≤ 40 years old, smaller tumor size, low histopathological grade, early clinical stage, no metastasis at diagnosis and surgical treatment were significantly correlated with overall survival ( P<0.05), but Cox regression analysis suggested that none of the above indicators were the independent prognostic factors for the survival of PMEC. Conclusions:The high incidence of MAML2 gene rearrangement in PMEC suggests that it is an important molecular diagnostic marker of PMEC. RNAseq confirms that CRTC1/3-MAML2 is the main fusion pattern in PMEC, suggesting that MAML2 fusion transcription may be an important driving factor of PMEC. MAML2 rearrangement/fusion and related clinicopathological characteristics are associated with good prognosis.

Objective:To explore the clinical characteristics of children with atopic mycoplasma pneumoniae pneumonia and to provide evidence for the diagnosis and treatment of children with atopic mycoplasma pneumoniae pneumonia.Methods:One hundred and eighty cases of children diagnosed with mycoplasma pneumoniae pneumonia in Shengjing Hospital of China Medical University from January 2018 to December 2018 were selected. According to whether they had atopic constitution, they were divided into atopic mycoplasma pneumoniae pneumonia(AMPP)group(84 cases)and non-atopic mycoplasma pneumoniae pneumonia(NAMPP)group(96 cases). The clinical data of age, sex, fever time, hospital stay, application time of macrolides, white blood cells, CRP, LDH, and lung CT were collected from the two groups, and the differences in clinical manifestations, laboratory examinations and imaging manifestations of the two groups were analyzed retrospectively.Results:(1)Both the absolute value of eosinophils and total IgE values in the AMPP group were higher than those in the NAMPP group, and the difference was statistically significant( P<0.05). The incidence of severe mycoplasma pneumoniae pneumonia(SMPP)and/or refractory mycoplasma pneumoniae pneumonia(RMPP)and chest imaging manifestations of interstitial pneumonia in the AMPP group was higher, and the difference was statistically significant( P<0.05). (2)The incidence of wheezing in the AMPP group was 48.81%(41 cases/84 cases), which was significantly higher than that in the NAMPP group 22.92%(22 cases/96 cases). The duration of cough and wheezing in the AMPP group was longer than that in the NAMPP group( P<0.05), with statistically significant differences( P<0.05). (3)In the AMPP group, 36.90%(31 cases /84 cases)of the children received intravenous methylprednisolone treatment, which was significantly higher than the 20.83%(20cases /96 cases)of the NAMPP group. Lung rales absorption time in the AMPP group[(9.73±3.59)d] was significantly longer than that in the NAMPP group[(7.52±2.44)d], and the difference was statistically significant( P<0.05). Lung CT examination showed that the absorption of lung inflammation in the AMPP group was worse than that in the NAMPP group, with a statistically significant difference( P<0.05). The hospitalization time of children in the AMPP group[(10.88±4.17)d] was longer than that in the NAMPP group[(9.68±2.68)d], with a statistically significant difference( P<0.05). Conclusion:The condition of AMPP is more serious than that of NAMPP, and it is more likely to cause incomplete absorption of pulmonary inflammation.

The estrogen receptor (ER)-negative breast cancer subtype is aggressive with few treat-ment options available. To identify specific prognostic factors for ER-negative breast cancer, this study included 705,729 and 1034 breast invasive cancer patients from the Surveillance, Epidemiol-ogy, and End Results (SEER) and The Cancer Genome Atlas (TCGA) databases, respectively. To identify key differential kinase-substrate node and edge biomarkers between ER-negative and ER-positive breast cancer patients, we adopted a network-based method using correlation coefficients between molecular pairs in the kinase regulatory network. Integrated analysis of the clinical and molecular data revealed the significant prognostic power of kinase-substrate node and edge featuresfor both subtypes of breast cancer. Two promising kinase-substrate edge features, CSNK1A1-NFATC3 and SRC-OCLN, were identified for more accurate prognostic prediction in ER-negative breast cancer patients.

Objective The aim of this study was to determine the content of phthalate in disposable plastic tableware sold on Chengdu market,and to provide primary data for safety evaluation.Methods Sample selection was based on stratified sampling.Sixteen phthalate compounds were investigated in 60 disposable plastic tableware,divided into seven groups.The analysis was performed by gas chromatography-mass spectrometry (GC-MS).Results In this survey,diethyl phthalate,diisobutyl phthalate,dibutyl phthalate and diethylhexyl phthalate were detected,while the other 12 phthalate compound were not.The positive rates of the four detected phthalate were 6.7％ (4/60),10.0％ (6/60),46.7％ (28/60) and 28.3％ (17/60) respectively,and the highest concentrations were 10.3,6.4,7.2 and 65.6 mg/kg,respectively.Conclusion The observed level of detection rates and maximum concentrations were relatively high in this survey.In addition,some subgroups of PAEs that were not allowed to use in food contact materials were detected.Therefore,the migration in different food simulant would be analyzed in the next step for further health outcome assessment.

Objective To investigate the prevalence of metabolic syndrome (MS) in 259 professional automobile drivers,and to put forward targeted suggestions on protection.Methods In October 2014,114 male bus drivers and 145 male taxi drivers in a transportation service company were enrolled as investigation group,and 121 non-operating male staff were enrolled as control group.Physical examination and a questionnaire survey were conducted for both groups,and the results were analyzed.Results The bus drivers and taxi drivers had significantly higher prevalence rates of MS than the non-operating staff (17.5％/13.1％ vs 3.3％,P＜0.05).The results of univariate logistic analysis showed that smoking (OR=2.58,95％CI 1.14～5.88),exercise (OR=0.21,95％CI 0.10～0.43),meal time (OR=0.27,95％CI 0.13～0.59),and a family history of chronic diseases (OR =2.26,95％ CI 1.13～4.50) were associated with MS,and each independent variable showed significant differences between groups (P＜0.05).Multivariate logistic regression analysis showed that with age remaining the same,smoking was the risk factor for MS in professional automobile drivers (OR=5.25,95％CI 2.00～13.80),and meal time(20～40 min)(OR=0.20,95％CI 0.09～0.44)and exercise (OR=0.13,95％CI 0.06～0.30)were protective factors against MS.Conclusion Professional automobile drivers have a higher prevalence rate of MS than non-operating staff,which should be taken seriously by working personnel.