Objective To study the single nucleotide polymorphisms (SNP) in 3 sites allele (T189M, R85H, C121W) of SCN1B and the association between gene distribution and epilepsy. Methods All 330 blood samples of refractory (80 cases), non-refractory (100 cases) epilepsy patients and healthy people (150 cases) were collected. Genomic DNA of leucocyte was extracted. SNPs of three sites allele of SCN1B were tested by allele-specific primer-polymerase chain reaction (ASP-PCR).Data were analyzed by SAS 8.1 statistical software. Results Epilepsy group and healthy group had significantly statistical difference in composition of 3 sites allele on single site genotype (x~2=11.19, 11.14 and 6.50, all P < 0.05).There was no statistical significance between refractory and non-refractory epilepsy group. On gene combination, in 27 different combinations of polymorphism, mutation frequency in 3 sites (CT + AG + CG) was highest in epilepsy group (18.40%).The next was one site in CT + GG + CC (16.80%).In healthy group, frequency of non-variant in CC + GG + CC was highest (16.67%), and the next was 2 sites in CT+ AG+CC (13.73%).Thirty-five cases in epilepsy group (28.80%) had 3 sites mutation compared with 10 cases in healthy group (9.71%), and their difference had statistical significance (x~2=12.54, P<0.05).Eighteen cases in refractory epilepsy group (30.51%) had 3 sites mutation compared with 21 cases in non-refractory epilepsy group (28.77%), and the difference had no statistical significance. Fifty cases in epilepsy group (40.00%) had 2 sites mutation compared with 41 cases in healthy group (40.20%), and there was no statistical significance between them; 25 cases in refractory epilepsy group (42.37%) had 2 sites mutation compared with 21 cases in non-refractory epilepsy group (28.71%), and their difference had no statistical significance. Conclusions Mutation, especially multisite mutation of SCN1B is relatively likely to cause epilepsy in human. Gene distribution and combination of three sites allele of SCN1B in refractory epilepsy is close to that in non-refractory epilepsy.

Objective To analyze the clinical and anatomic characteristics of bridging bronchus (BB) malformation in children,and to explore its diagnostic strategy,treatment and risk factors.Methods A retrospective study was performed in 23 pediatric patients with BB who were admitted to Guangzhou Women and Children's Medical Center form May 2010 to October 2016.All their clinical features,imaging examination,treatment and prognosis were reviewed and analyzed.Results (1) Among the 23 patients with BB,15 were males and 8 were females.The age range of onset was 0 to 4 years old with a median age of 3.17 months.(2)The main clinical manifestations were cough (23/23 cases,100.0％),recurrent wheezing (20/23 cases,87.0％),cyanosis (8/23 cases,34.8％) and feeding diffficulty/slow body weight growth (6/23 cases,24.6％).(3) There were 17 cases of type Ⅰ and 4 cases of type Ⅱ according to Wells,and the other 2 cases were anterior BB.There were 2 cases with atypical anatomical morphology in type Ⅰ and type Ⅱ respectively.(4) Twenty-one cases were associated with bronchial stenosis in which the origin of left main bronchus complicated with BB stenosis was the most common(5 cases).Bronchoscopy revealed bronchomalacia in 5 of the 16 patients.Sixteen patients associated with cardiac or vascular anomalies,11 of whom were compound anomalies,and the most common type was sling left pulmonary artery (SLPA) (12 cases).(5) Nine of 12 patients with SLPA received surgical management,ages ranging from 1 month to 8 years old.The respiratory symptoms remitted gradually or disappeared from 4 to 17 months after surgical management.Two died and one has been lost to follow-up among the remaining 3 patients with SLPA.Conclusions BB is a rare tracheobronchial malformation that is often associated with stenosis or bronchomalacia,and cardiac or vascular anomalies.The severity of the disease mainly depends on whether there is airway stenosis or malacia and its extent.The definitive diagnosis of BB requires the combination of different imaging modalities.The combination with simple SLPA could get better curative effect.

Objective To investigate the influence of simvastatin treatment on Toll-like receptor 4 (TLR4) in monocytes of peripheral blood in patients with sepsis and severe sepsis and its significance. Methods A prospective randomized controlled trial was conducted. 106 patients with sepsis and 92 patients with severe sepsis admitted to Department of Critical Care Medicine of Henan Provincial People's Hospital from August 2013 to June 2015 were enrolled. These two groups of patients were randomized into conventional treatment group and simvastatin group. All patients received treatment according to the 2012 International Sepsis Treatment Guidelines, including anti-infection drugs, nutritional support, and palliative treatment, and the patients with severe sepsis were given early goal-directed therapy (EGDT). The patients in simvastatin group received simvastatin 40 mg daily orally for at least 15 days. The peripheral blood was collected and the monocytes were isolated at 1, 5, 10, 15 days after intensive care unit (ICU) admission. TLR4 expression on the surface of TLR4/CD14+ double positive monocytes was determined by flow cytometry, and adverse reaction was observed during treatment. Results TLR4 expression on the surface of monocytes showed a tendency of decreasing with prolongation of simvastatin treatment in the simvastatin group in patients with sepsis (n = 59) or severe sepsis (n = 54). However, in patients with sepsis, TLR4 level was significantly decreased from 10 days in simvastatin group as compared with that of conventional therapy group (n = 47), and it was decreased up to 15 days [mean fluorescence intensity (MFI): 21 (19, 28) vs. 27 (25, 33) at 10 days, Z = 2.198, P = 0.021; 16 (15, 21) vs. 26 (23, 34) at 15 days, Z = 4.611, P = 0.002]. In patients with severe sepsis, there was no significant difference in TLR4 level at different time points between simvastatin group and conventional treatment group (n = 38) [MFI: 55 (52, 63) vs. 56 (48, 65) at 1 day, Z = 0.313, P = 0.692; 47 (42, 56) vs. 49 (41, 58) at 5 days, Z = 0.827, P = 0.533; 40 (35, 42) vs. 42 (37, 45) at 10 days, Z = 1.012, P = 0.301; 33 (30, 38) vs. 38 (35, 41) at 15 days, Z = 0.539, P = 0.571]. No adverse reaction related with simvastatin was found during treatment in patients with sepsis or severe sepsis. Conclusions Statins could significantly down-regulate the TLR4 expression on peripheral blood monocytes in septic patients, while it showed no significant influence on TLR4 expression in patients with severe sepsis. A different effect of statins on TLR4 expression and the downstream inflammation process in sepsis and severe sepsis patients might partially explain the discrepancy in previous reports about the therapeutic effect of statins therapy in sepsis and severe sepsis patients.

PURPOSE: To investigate the clinical value of serum miR-221-3p and miR-122-5p expression levels in the diagnosis and prognosis of gastric cancer. MATERIALS AND METHODS: Serum samples from 141 gastric cancer cases (gastric cancer group), 110 gastric polyps (gastric polyp group), and 75 healthy people (healthy control) were used to detect miR-221-3p and miR-122-5p expression using real-time reverse transcription polymerase chain reaction. RESULTS: Serum miR-221-3p expression was significantly higher in the gastric cancer group than in the gastric polyp group, and it was significantly lower than that before operation. The miR-221-3p expression was significantly higher in the death group than in the survival group. The proliferation and migration ability significantly increased and the apoptosis rate significantly decreased by miR-221-3p transfection in gastric cancer cells. In contrast, the function of miR-122-5p in gastric cancer cells was opposite of miR-221-3p. Serum miR-221-3p expression was negatively correlated with that of miR-122-5p in gastric cancer. Serum miR-221-3p and miR-122-5p expressions were significantly correlated with the degree of differentiation, tumor, node, metastasis stage, lymph node metastasis, and invasion depth. miR-221-3p and miR-122-5p expression levels were independent prognostic factors for postoperative gastric cancer. In the diagnosis and predicting prognosis of gastric cancer, receiver operating characteristic analysis revealed that the area under curve of combined detection of serum miR-221-3p and miR-122-5p expression had a greater diagnostic effect than either single maker. CONCLUSIONS: The miR-221-3p and miR-122-5p are involved in the development of gastric cancer, and they have important clinical values in gastric cancer diagnosis and prognosis.
Apoptosis ; Area Under Curve ; Diagnosis ; Lymph Nodes ; MicroRNAs ; Neoplasm Metastasis ; Polymerase Chain Reaction ; Polyps ; Prognosis ; Real-Time Polymerase Chain Reaction ; Reverse Transcription ; ROC Curve ; Stomach Neoplasms ; Transfection

OBJECTIVE: To compare and analyze the risk rating for chemical hazards of aromatics complex in a petrochemical enterprise using two risk assessment methods. METHODS: Occupational hygiene investigation and chemical detection for workplaces of the construction project were made. The risk ratings were made in five workplaces including that of the aromatics extraction,disproportionation,isomerization,xylene fractionation and adsorptive fractionation. Two risk assessment methods were employed. They were the optimal indicator system of risk assessment on occupational chemical hazards( optimal indicator system) and the semi quantitative risk assessment model of Singapore. The results of risk rating generated by the two risk assessment methods were then compared and analyzed. RESULTS: Using the optimal indicator system,the risk rating of benzene was mild in the five workplaces; and the risk rating of methylbenzene and xylene was slight. However,using the semi quantitative risk assessment model of Singapore,the risk rating of benzene was extremely high in both the aromatics extraction and disproportionation workplaces; the risk rating was high in xylene fractionation,and was medium in the isomerization and adsorptive fractionation workplaces. The risk rating of methylbenzene was high in the aromatics extraction and disproportionation workplaces,and was low in the other three workplaces. The risk rating of xylene was low in the five workplaces. CONCLUSION: The optimal indicator system is more feasible,practical and objective for the assessment of chemical hazards. It is more suitable for risk assessment of occupational chemical hazards in our country.

BACKGROUND: Despite the progress in perinatal-neonatal medicine, complications of extremely preterm infants continue to constitute the major adverse outcomes in neonatal intensive care unit. Human umbilical cord Wharton’s Jellyderived mesenchymal stem cells (HUMSCs) may offer new hope for the treatment of intractable neonatal disorders. This study will explore the functional differences of HUMSCs between extremely preterm and term infants. METHODS: UMSCs from 5 extremely preterm infants(weeks of gestation: 22+5 w,24+4 w,25+3 w,26 w,28 w) and 2 term infants(39 w,39+2 w) were isolated, and mesenchymal markers, pluripotent genes, proliferation rate were analyzed.HUVECs were injured by treated with LPS and repaired by co-cultured with HUMSCs of different gestational ages. RESULTS: All HUMSCs showed fibroblast-like adherence to plastic and positively expressed surface marker of CD105,CD73 and CD90, but did not expressed CD45,CD34,CD14,CD79a and HLA-DR; HUMSCs in extremely preterm exhibited significant increase in proliferation as evidenced by CCK8, pluripotency markers OCT-4 tested by RT-PCR also showed increase. Above all, in LPS induced co-cultured inflame systerm, HUMSCs in extremely preterm were more capable to promote wound healing and tube formation in HUVEC cultures, they promoted TGFb1 expression and inhibited IL6 expression. CONCLUSIONS Our results suggest that HUMSCs from extremely preterm infants may be more suitable as candidates in cell therapy for the preterm infants.

Objective To investigate the clinical value of the ratio of ADA and CysC in the Pleural effusion and serum for the di-agnosis of Tuberculous pleural effusion .Methods In the first half of 2014 ,50 cases from a random sample of patients with tubercu-lous pleurisy admitted in our hospital were chosen as tuberculosis group ,20 cases of patiente with lung cancer pleural effusion as malignant group and 30 cases of patiente with hepatic hydrothorax as control group .The concentrations of CysC and ADA in the pleural effusion and serum were detected ,and the ratios of these two indexes in the pleural effusion and serum were calculated .Re-sults (1)The results in three groups including PADA and SADA ,SCysC and PCysC ,PCysC/SCysC and PADA/SADA were com-pared ,and the differences were statistically significant (P<0 .05) .(2) According to the ROC curve ,the critical value of PADA/SA-DA and PCysC/SCysC were set as 1 .58 and 2 .30 ,respectively ,and area under the curve of PADA/SADA and PCysC/SCysC were 0 .880 and 0 .786 respectively .Conclusion The diagnostic value of PADA/SADA and PCysC/SCys for tuberculous pleural effusion is higher than that of PADA ,SADA ,PCysC or SCysC alone ,which can be used for the differential diagnosis of tuberculous pleural effusion index for clinical application .

Objective: To apply and compare two risk assessment methods for occupational lead exposure risk classification in a lead-acid battery enterprise. Methods: In April 2013, an occupational health survey was carried out in a lead-acid battery enterprise. Lead smoke and lead dust were tested in the workplace. The risk assessment index system for occupational chemical hazards that was established and optimized by the research group (referred to as "optimized index system" ) , as well as the Singapore semi-quantitative risk assessment model, was used for occupational lead exposure risk classification in the lead-acid battery enterprise. The two risk classification results were analyzed and compared. Results: In the lead smoke risk classification results, the optimized index system classified the raw material group and foundry group workshops as Class I hazardous and the assembling group workshop as Class II hazardous. The Singapore semi-quantitative risk assessment model classified the raw material group workshop as high risk and foundry group and assembling group workshops as extremely high risk. In the lead dust risk classification results, the optimized index system classified the raw material group workshop as Class I hazardous, while the plate painting group, plate cutting group, and assembling group workshops were classified as Class II hazardous. The Singapore semi-quantitative risk assessment model classified the raw material group workshop as medium risk, the plate painting group and plate cutting group workshops as high risk, and the assembling group workshop as extremely high risk. Conclusion There are some differences in risk assessment of occupational lead exposure between the two risk assessment methods. The optimized index system is comparably more reasonable and feasible, and is highly operable.

Objective:To investigate the efficacy of tibiofibular-based reconstruction technique with single femoral tunnel for Fanelli type C posterolateral complex (PLC) injury.Methods:A retrospective case series study was conducted to analyze the clinical data of 16 patients with Fanelli type C PLC injury admitted to Tianjin Hospital from July 2016 to July 2019, including 10 males and 6 females, aged 20-61 years [(36.5±13.9)years]. PLC reconstruction was performed by tibiofibular-based technique with single femoral tunnel using gracilis tendon and semi-tendinosus autografts. If the posterior and anterior cruciate ligaments (PCL/ACL) rupture were combined, arthroscopic single bundle reconstruction was performed simultaneously. If the posteromedial corner (PMC) injury was combined, PMC repair or reconstruction surgery was performed simultaneously. Operation time and intraoperative blood loss were recorded. When the bone needle and tunnel for PLC were drilled during the operation, the interference of the femoral tunnel through the cruciate ligament was observed under the arthroscope. Before and at 6 and 12 months after operation, the varus stability of the knee joint was evaluated with the difference of lateral joint space width of both knees and the International Knee Documentation Committee (IKDC) objective classification of varus stability of the knee joint; the external rotation stability was evaluated with the difference of external rotation angle of both knees and the IKDC objective classification of external rotation stability of the knee joint. Before, at 6 and 12 months after operation and at the last follow-up, IKDC 2000 subjective score and Lysholm score were compared. The occurrence of complications was observed.Results:All the patients were followed up for 12-36 months [24(15, 33)months]. The operation time was 100-220 minutes [175.0(111.3, 200.0)minutes], with intraoperative blood loss of 30-150 ml [(84.3±36.5)ml]. Intraoperative arthroscopy showed no interference of perforation between PLC and cruciate ligament femoral tunnel. The differences of lateral joint space width of both knees at 6 and 12 months after operation were 0.5(0.2, 1.4)mm and 0.6(0.2, 1.5)mm respectively, which were both significantly improved compared with 12.1(10.8, 12.6)mm before operation ( P<0.05), while there was no significant difference at 6 and 12 months after operation ( P>0.05). The IKDC objective classification of varus stability of the knee joint was grade A in 13 patients, grade B in two and grade C in one at 6 or 12 months after operation, and showed statistical difference from grade D in all the patients before operation ( P<0.01). At 6 and 12 months after operation, the difference of external rotation angle of both knees was -2.0(-3.2, 1.3)° and -1.4(-3.0, 1.7)° respectively, which were significantly improved compared with 16.8(13.9, 18.4)° before operation ( P<0.05), while there was no significant difference at 6 and 12 months after operation ( P>0.05). IKDC objective classification of external rotation stability of the knee joint was grade A in 14 patients, grade B in one and grade C in one at 6 or 12 months after operation, and showed statistical difference from grade C in 14 patients and grade D in 2 before operation ( P<0.01). At 6 and 12 months after operation and at the last follow-up, the IKDC 2000 subjective scores [(76.3±4.7)points, (80.3±4.4)points, (79.9±3.8)points respectively] and the Lysholm scores [(76.1±3.9)points, (81.1±4.3)points, (82.8±3.2)points respectively] were significantly improved compared with those before operation [(48.6±3.7)points and (52.6±2.4)points] ( P<0.05). The IKDC 2000 subjective scores and Lysholm scores were significantly improved at 12 months after operation and at the last follow-up than those at 6 months after operation ( P<0.05). There were no significant differences in the IKDC 2000 subjective scores and Lysholm scores at 12 months after operation and at the last follow-up ( P>0.05). There were no complications such as wound infection, vascular and nerve injury, joint stiffness or ectopic ossification. Conclusion:For Fanelli type C PLC injury, tibiofibular-based reconstruction technique with single femoral tunnel reduces the interference between the lateral femoral tunnels, significantly improves the varus and external rotation stability and the function of the knee joint, and has few complications and satisfactory short-term clinical efficacy.

Objective:To explore the immunological characteristics of peripheral blood and genetic variations of 11 immunodeficiency virus(HIV)-negative children with Talaromyces marneffei(TM) infection, thus enhancing the diagnostic and therapeutic levels of TM infection in children. Methods:Clinical data of 11 HIV-negative children with TM infection who presented to Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2010 to December 2022 were retrospectively analyzed, including clinical characteristics, peripheral immune profile and genetic test results.Results:A total of 11 HIV-negative children with TM infections were recruited, involving 9 males and 2 females with a median age of 19 months.The main clinical manifestations were fever (10/11, 90.91%), cough (10/11, 90.91%) and hepatomegaly (7/11, 63.64%). Common severe complications included acute respiratory distress syndrome (7/11, 63.64%) and septic shock (5/11, 45.45%). Finally, 2 children died.Transient neutropenia occurred in 6 cases (6/11, 54.55%), and lymphocytopenia combined with serum immunoglobulin (Ig) G decrease was observed in 4 cases (4/11, 36.36%). IgA decrease, IgM decrease, IgE decrease, IgM increase and IgE increase were observed in 6 cases, 3 cases, 5 cases, 3 cases, and 2 cases, respectively.Both T-lymphocyte and B-lymphocyte counts decreases was observed in 1 case.Genetic testing was performed in all recruited children, and genetic variations were detected in all of them.Inborn errors of immunity (IEIs) were diagnosed in 8 cases, including 4 diagnosed as CD 40 ligand deficiency with CD40LG variation, 1 of severe combined immunodeficiency with IL2RG variation, 1 of Signal transduction and activator of transcription 3(STAT3)-hyper-IgE syndrome with STAT3 variation and 1 of familial candidiasis type 2 with CARD9 compound heterozygous mutations.In the other 3 cases, 2 carried genetic variations that were likely pathogenic, and 1 case was considered uncertain. Conclusions:The clinical manifestations of HIV-negative children with TM infection are atypical, which is characterized as serious complications and high mortality.Early identification and gene testing to detect potential IEIs can improve the prognosis of TM infection.