Objective:To investigate the correlation of Mena protein expression with the invasion and metastasis of Mena SNPs with genetic susceptibility in gastric cancers (GC). Methods:A tissue microarray that simulates the invasion and metastasis process of GC was created, and immunohistochemistry was performed to detect the expression of Mena protein. The Mena gene 5 SNP loci geno-types of 188 healthy people and 389 GC patients were assayed using PCR-based LDR analysis. Results:The expression of Mena pro-tein in GC was significantly upregulated and greatly increased in the intestinal-type and mixed-type GC than that in the diffuse-type and was negatively related to the invasion and metastasis of GC. Patients with Mena overexpression had better prognosis. The frequen-cies of the A and G alleles, as well as the AA, AG, and GG genotypes, at the Mena SNP rs3795443 locus were significantly different be-tween patients with gastric carcinoma and the control groups (OR=2.1489,95%CI 1.4607~3.1613, P<0.01). The frequencies of these five Mena gene SNP loci were not significantly related with the survival of patients with gastric carcinoma. Conclusion:The upregula-tion of Mena expression is involved in maintaining the histological phenotype, invasion, metastasis, and prognosis of gastric adenocarci-noma. Individuals with GG and AG genotypes at the Mena rs3795443 locus have increased risk of gastric carcinoma, which suggests that screening for this genotype would be helpful in assessing the genetic susceptibility of gastric carcinoma.

OBJECTIVETo study the role of interleukin 17 (IL-17) in the pathogenesis of chronic otitis media with effusion (COME).METHODSThe expression of IL-17 in middle ear effusion (MEE) and blood plasma were measured in 30 patients (48 ears) by means of Cytometric Bead Array (CBA), as well as in 20 normal volunteers.RESULTSCompared with the control group, the level of IL-17 significantly increased in the peripheral blood of COME patients (P<0.05). What was more, the level of IL-17 in the MEE was higher than that in peripheral blood of COME patients (P<0.05).CONCLUSIONIL-17, as an important immunoregulatory mediator, may play an important role in chronic course of COME.

Objective:To explore the relationship of CDH17 expression with clinico-pathological features and the correlation be-tween the single nucleotide polymorphisms (SNPs) of CDH17 gene and genetic susceptibility of gastric carcinoma (GC). Methods:A tissue microarray was performed to simulate the dynamic process of invasion and metastasis of GC. Immunohistochemical staining was performed to detect the expression of CDH17 protein, and PCR-based LDR was performed to detect the 2 SNP loci (rs2514813 and rs3214050) genotypes of CDH17 gene. Results: The expression of CDH17 protein in GC was more significantly up-regulated and greatly increased in the intestinal type than in the diffuse type. The expression of CDH17 protein in GC was positively correlated with the histological grading (P<0.01) and was not associated with the survival (P=0.209). With the progression of the cancer invasion, the expression of CDH17 protein in GC showed a downtrend from the gastric mucosa layer to the invasive front edge. The frequencies of the C and T alleles and the CC, CT, and TT genotypes at the CDH17 rs3214050 locus between the GC patients and the control groups were significantly different (P<0.01). However, no significant differences were observed at rs2514813 (P>0.05). The individuals with the T al-leles had longer survival time than those with the CC genotype (P<0.01). Conclusion:The up-regulation of CDH17 expression is in-volved in the maintenance of histological phenotype and progression of GC. Individuals with T alleles at the CDH17 rs3214050 locus have decreased risk of GC and had better prognosis (OR=0.762, 95%CI:0.619-0.937), thereby suggesting that screening for these alleles would help with the assessment of genetic susceptibility and prognosis of GC in the Fujian population.

OBJECTIVE: To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS. METHOD: DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ear malformations excluding IVAS probands. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. GJB2 gene and also mt12SrRNA were analyzed by direct sequencing. RESULT: In 14 cases of LVAS, two mutations were detected in 12 patients (85.7%, either homozygous or compound heterozygous mutations), and one mutation was found in two patients (14.3%). In six cases of Mondini dysplasia, two mutations were detected in all of patients (100%). No mutation could be found in the seven cases of other inner ear abnormalities not accompanied with LVAS. No pathogenic mutation was detected in all of these 27 probands in GJB2 gene and mt12SrRNA 1555/1494T. CONCLUSION We have shown that LVAS and Mondini dysplasia closely correlate with SLC26A4 gene. No mutation was detected in seven probands of inner ear malformations not accompanied with LVAS. We should study the molecular pathogenesis of this disease in depth.
Adolescent ; Adult ; Child ; Child, Preschool ; Connexins ; Ear, Inner ; abnormalities ; Exons ; Female ; Genome ; Humans ; Infant ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Sulfate Transporters ; Syndrome ; Vestibular Aqueduct ; abnormalities ; Young Adult

Objective: To learn the epidemiological characteristics of fall mortality among the elderly people in Taizhou，and to provide basis for intervention strategies of fall in the elderly. Methods: Data of fall mortality among residents aged 60 years or over in Taizhou from 2016 to 2018，collected from Zhejiang Chronic Disease Surveillance Information Management System，was used for analysis of time，population and geographical characteristics of fall deaths. The epidemic trend of fall mortality in the elderly was described by annual percentage change（APC）. Results: From 2016 to 2018，3 699 cases of fall death in Taizhou were reported，the crude and standardized mortality were 116.90/100 000 and 97.88/100 000. The standardized mortality of fall in women was 106.11/100 000，which was higher than 90.13/100 000 in men（P<0.05）. The standardized mortality of fall in rural residents was 131.20/100 000，which was higher than 28.15/100 000 in urban residents（P<0.05）. The mortality of fall in residents aged 65-69 years from 2016 to 2018 showed an upward trend（APC=4.20%，P<0.05），while the mortality trend of fall in other age groups was not statistically significant（P>0.05）. Conclusion Fall was the first cause of injury death in the elderly aged 60 years or over in Taizhou. Females and rural residents have relatively higher fall mortality.

Objective:To investigate the clinicopathological features, immunophenotype, molecular characteristics and differential diagnosis of primary skull base chondrosarcoma.Methods:Nine cases of primary skull base chondrosarcoma were collected at the First Affiliated Hospital of Fujian Medical University, from January 2006 to June 2019, reviewed for the clinical and radiologic data and morphologic features, immunophenotype and molecular characteristics.Results:Among all the 9 cases, six were male, three were frmale, with average age 47 years, and median age 47 years; five cases were WHO gradeⅠ, and four were WHO grade Ⅱ. Microscopically, the tumor showed lobulated growth pattern with low-medium cellularity within a chondroid or mucoid background. The tumor cells showed mild-moderate atypia, with binucleated forms, and mitosis was rare or occasional. Immunohistochemistry (IHC) showed tumor cells were positive for S-100 protein, vimentin, SOX-9 and D2-40, and negative for Brachyury, CK, EMA and CK8/18; the Ki-67 index was low (1% to 5%). Molecular analysis showed IDH1 R132C mutation in four cases.Conclusions:Skull base chondrosarcoma is a rare cartilaginous malignant tumor with a good prognosis. Its characteristic morphologies, combined with IHC and molecular detection are helpful for the differential diagnosis.

Objective:To investigate the expression of programmed cell death ligand 1 (PD-L1), clinicopathologic features, immunohistochemical expression and molecular characteristics in fumarate hydratase (FH)-deficient renal cell carcinoma and to explore the potential application of immunotherapy in the patients.Methods:There were six patients with FH-deficient renal cell carcinoma treated at the First Affiliated Hospital of Fujian Medical University between January 2020 and October 2022. The clinical data, histological morphology, immunophenotype, PD-L1 expression and next-generation sequencing results were tabulated and analyzed.Results:There were 6 patients, all male, age ranged from 37 to 72 years (mean 45.7 years). Four cases were high-grade (WHO/ISUP grade3-4) with 2 or more histologic patterns, including papillary (most common), glandular, tubular, vesicular, ethmoid, nest-like, cystic and solid structures. Two cases were low-grade which showed nest-like, glandular, or tubular arrangement with eosinophilic flocculent cytoplasm and small intracellular vacuoles. Immunohistochemical analysis revealed strong expression of 2SC in all 6 cases, negative expression of FH in 5 cases, and positive expression of GATA3 in 5 cases. In high-grade cases, the mean values of CD4 and CD8 positive T-lymphocytes in advanced tumor invasion were 180.3/mm 2 and 130.5/mm 2, respectively. PD-L1 combined positive scores (CPS) were 20, 50, 5 and 30, respectively. The Ki-67 proliferative index were 20%, 20%, 10% and 30%, respectively. In low-grade cases, the mean values of CD4 and CD8 positive T-lymphocytes were 123.0/mm 2 and 100.5/mm 2, respectively. The PD-L1 CPS score was 1, and the Ki-67 proliferation index was 3%. High-throughput sequencing showed FH gene somatic mutation in 3 cases, FH gene germline mutation in 2 cases, and FH gene mutation was not detected in one case. Conclusion:FH-deficient renal cell carcinoma is more commonly high-grade than low grade. FH and 2SC are immunohistochemical markers used in the diagnosis of FH-deficient renal cell carcinoma, and GATA3 positivity is supportive of the diagnosis. The tumor infiltration of high-grade FH-deficient renal cell carcinoma shows an increase in CD4 and CD8 positive T-lymphocytes, and high expression of PD-L1; thus, anti-PD-L1 immunotherapy can be used as a treatment option.

Objective To observe the effect of hyperbaric oxygen (HBO) therapy combined with repeated transcranial magnetic stimulation (rTMS) on patients with cognitive dysfunction after cerebral infarction.Methods A total of 81 patients with cognitive dysfunction after cerebral infarction were randomly divided into a control group,an HBO group and a combined treatment group,each of 27.In addition to basic medication and traditional rehabilitation therapy,the HBO group was also treated with hyperbaric oxygen,while the combined treatment group received both HBO and rTMS.The mini-mental state examination (MMSE) and the Montreal cognitive assessment (MoCA) were administered before and after the four weeks of treatment.Results The average MMSE scores of the HBO and combined treatment groups were both significantly higher than that of the control group,with the former significantly higher than the latter.Moreover,the average MoCA score of the HBO group was also significantly higher than that of the combined treatment group,and both were significantly higher than that of the control group.Conclusion Hyperbaric oxygen therapy can more effectively improve the cognitive function of patients with cognitive dysfunction after the cerebral infarction when it is combined with repeated transcranial magnetic stimulation.

Objective:To investigate the correlation between lung ultrasound score at the end of spontaneous breathing trial (SBT) and cumulative fluid balance at 48 h and their predictive value of extubation outcome in patients with intro-abdominal infection (IAI) under mechanical ventilation.Methods:A retrospective study was conducted. Patients with IAI under mechanical ventilation for more than 48 h were collected from three hospitals from October 1, 2017 to September 30, 2018. Routine demographic variables and clinical characteristics were recorded. The patients were divided into the successful extubation group and failed extubation group according to whether they could maintain spontaneous breathing for 48 h after extubation. LUS at the end of SBT (before extubation) and cumulative fluid balance at 48 h were compared between the two groups. LUS and cumulative fluid balance at 48 h were analyzed by bivariate correlation analysis, and their correlations with shallow fast breathing index (RSBI) and precursor protein of BNP (Pro-BNP) were analyzed. The predictive value of LUS at the end of SBT (before extubation) and cumulative fluid balance for extubation failure were analyzed by receiver operating characteristic curve (ROC).Results:Totally 207 patients were enrolled. There were significant differences in LUS before extubation [12 (10, 14) vs. 16 (14, 17) points], cumulative fluid balance [-318 (-1 116, 200) mL vs. 1 140 (685, 1 614) mL], RSBI [60 (55, 66) (times/min)/L vs. 70 (65, 78) (times/min)/L], pro-BNP [250 (122, 1 292) pg/mL vs. 1156 (285, 4 346) pg/mL], IAP >15 mmHg [32.8% vs. 46.6%], and ICU stay [8 (6, 12) days vs. 11 (8, 14) days] ( P<0.05). Logistic regression analysis showed that the COPD history, RSBI, LUS at the end of SBT, and cumulative fluid balance at 48 h before extubation were independent risk factors for extubation failure. Correlation analysis showed that LUS was moderately correlated with cumulative fluid balance at 48 h ( r=0.41, P<0.001), weakly correlated with RSBI ( r=0.381, P<0.001), and weakly correlated with pro-BNP ( r=0.220, P<0.001). Cumulative fluid balance at 48 h was weakly correlated with RSBI ( r=0.31, P<0.001), but not with pro-BNP. LUS at the end of SBT and cumulative liquid balance at 48 h had predictive value for extubation failure [AUC=0.87 (95% CI: 0.82-0.91), AUC=0.89 (95% CI: 0.85-0.94), P<0.001]. Conclusions:There is a moderate correlation between LUS at the end of SBT (before extubation) and 48 h cumulative fluid balance in patients with IAI and mechanical ventilation. LUS at the end of SBT (before extubation) and cumulative fluid balance at 48 h have some predictive value for extubation failure.

Objective:To evaluate the value of lung ultrasound score (LUS) on predicting weaning outcome in patients with intro-abdominal infection (IAI) undergoing mechanical ventilation.Methods:Patients with IAI undergoing mechanical ventilation admitted to Research Institute of General Surgery of East War Zone Hospital and intensive care unit (ICU) of the First People's Hospital of Lianyungang from January to December in 2018 were included. The patients who satisfied weaning criteria were enrolled in the weaning process, which included spontaneous breathing trial (SBT) and extubation. They were divided into SBT success group and SBT failure group according to whether passed 120-minute SBT or not. LUS scores before and after SBT were compared between the two groups. The patients in the SBT success group were extubated, and they were divided into successful extubation group and failed extubation group for sub-group analysis according to whether re-intubation was needed in 48 hours after extubation. LUS score before extubation (at the end of SBT) and 48 hours after extubation (48 hours after extubation in the successful extubation group or before re-intubation in the failed extubation group) were compared. The receiver operating characteristic (ROC) curve was drawn to evaluate the predictive value of LUS score before SBT for SBT failure and LUS score before extubation for the failure.Results:A total of 76 patients with IAI undergoing mechanical ventilation were included. Twenty-three patients had duration of mechanical ventilation less than 48 hours, severe chronic obstructive pulmonary disease (COPD), tracheotomy or automatic discharge were excluded, and 53 patients were enrolled. SBT was failed in 9 patients, and successfully performed in 44 patients, of whom 23 patients with successful extubation, and 21 with failed extubation. The LUS scores before and after SBT in the SBT failure group were significantly higher than those in the SBT success group (before SBT: 13.22±1.99 vs. 10.79±1.64, t = -3.911, P = 0.000; after SBT: 19.00±1.12 vs. 13.41±1.86, t = -8.665, P = 0.000). ROC curve analysis showed that the area under ROC curve (AUC) of LUS score before SBT for predicting SBT failure was 0.82 [95% confidence interval (95% CI) was 0.67-0.98, P = 0.002]. When the optimum cut-off value was 12.5, the sensitivity was 66.7%, and the specificity was 84.1%. Sub-group analysis showed that the LUS scores before and after extubation in the failed extubation group were significantly higher than those in the successful extubation group (before extubation: 14.19±1.60 vs. 12.69±1.81, t = -2.881, P = 0.006; after extubation: 16.42±1.59 vs. 12.78±1.54, t = -7.710, P = 0.000). ROC curve analysis showed that the AUC of LUS score before extubation for predicting the failure was 0.81 (95% CI was 0.69-0.92, P = 0.000). When the optimum cut-off value was 13.5, the sensitivity was 80.0%, and the specificity was 65.2%. Conclusion:LUS score can effectively predict SBT outcome, risk of re-intubation after extubation in patients with IAI undergoing mechanical ventilation.