To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

OBJECTIVE To establish UHPLC-ELSD fingerprint and multi-component content determination methods, compare the differences in sheep bile from different regions, and conduct antioxidant activity research to provide a basis for the in-depth development and utilization of sheep bile. METHODS Used UHPLC-ELSD method to establish 21 batches of bile fingerprints of sheep from different origins and conduct similarity analysis. Measured the content of 6 components, DPPH and ABTS free radical scavenging ability, iron ion reduction ability, and conducted entropy weighted TOPSIS and grey correlation analysis. RESULTS A total of 11 common peaks were identified in the fingerprint spectra of 21 batches of sheep bile. Through comparison with the control sample, 6 components were identified, including taurocholic acid(TCA), glycocholic acid(GCA), taurochenodeoxycholic acid(TCDCA), tauroursodeoxycholic acid(TDCA), glycodeoxycholic acid(GDCA), and cholic acid(CA). Except for 4 batches of samples, the similarity of the fingerprint spectra was greater than 0.90. The total content range of 6 components in the freeze-dried powder of 21 batches of sheep bile was 55.34% to 86.08%. The highest content of taurocholic acid ranged from 34.74% to 60.86%, indicating significant differences in the content of the six components in samples from different regions. Sheep bile from different regions had antioxidant activity, and there were also certain differences. The results of entropy weighted TOPSIS analysis using six component contents as variables showed that the top ten scoring groups were S2, S18, S16, S9, S8, S21, S1, S10, S20, and S15, indicating good quality and slightly better bile quality from sheep in the northern region. The grey correlation analysis results between the content of 6 components and 3 antioxidant indicators showed that all 6 components were correlated with each antioxidant indicator, and TCA, TDCA, and TCDCA had the highest correlation, which might be important components for sheep bile to exert antioxidant effects. CONCLUSION The use of entropy weighted TOPSIS and grey correlation analysis methods can effectively analyze the quality differences and antioxidant active components of sheep bile from different regions, providing scientific basis for its quality evaluation.

Objective To evaluate the antioxidant function of Chrysanthemum morifolium from different origins and to identify their antioxidant material basis.Methods The HPLC fingerprints of the water extracts of C.morifolium from different origins were established.The antioxidant activities of C.morifolium were assayed by measuring the 2.2-diphenyl-l-picrylhydrazyl(DPPH),hydroxyl radical,ABTS,superoxide anion radical scavenging capacity and ferric ion reducing capacity FRAP.Entropy-weighted TOPSIS was used to calculate the weighting coefficients of the single indexes.Grey relational analysis(GRA)and partial least squares were used for spectrum-effect analysis to identify the antioxidant material basis of C.morifolium.Results A total of 16 common peaks were discovered in the fingerprint of the water extracts of 10 batches of C.morifolium,among which 13 common components were identified.All the C.morifolium samples had good antioxidant capacity,and the results of entropy-weighted TOPSIS analysis showed that the ranking of total antioxidant potency of 10 batches of C.morifolium was follows:S1＞S8＞S3＞S5＞S4＞S10＞S7＞S2＞S9＞S6.The peaks of 1-5,9,10,12,14 were positively correlated with the antioxidant activity and the variable influence on projection(VIP)values were greater than 1.The correlation coefficients of these nine peaks in GRA were all greater than 0.7.Conclusion The entropy-weighted TOPSIS method combined with the spectrum-effect analysis could be used to screen out the antioxidant material basis of C.morifolium and the results provide a basis for establishing quality assessment system for C.morifolium based on Quality-markers thus improving the quality control level.

Objective To investigate the risk factors for postoperative pulmonary embolism in patients with spontaneous cerebral hemorrhage,and construct and verify the nomogram model.Methods A retrospective cohort study was conducted on 558 patients admitted in the First Affiliated Hospital of Chongqing Medical University and the Three Gorges Hospital Affiliated to Chongqing University.And 393 of them who hospitalized from January 2015 to January 2021 were assigned into a modeling group,and the other 165 patients from February 2021 to January 2023 into a validation group.Univariate and multivariate stepwise logistic regression analyses were used to screen out the risk factors associated with pulmonary embolism after spontaneous cerebral hemorrhage surgery.Then a nomogram model was build based on these factors and verified.Results Based on age,blood loss,Glasgow coma scale(GCS)score,surgical treatments,levels of fibrin degradation products,D-dimer and hemoglobin,plasma osmolality,and deep vein thrombosis,a risk model of pulmonary embolism was built.Receiver operating characteristic(ROC)curve analysis showed the model had good discriminability for the presence of pulmonary embolism,and the area under the curve(AUC)value was 0.908.Hosmer-Lemeshow goodness-fit test indicated that the model had a good fit to the verification set(Chi-square=14.805,df=8,P=0.063),the correction curve was close to the ideal curve,and the prediction probability of the model was close to the actual occurrence probability,suggesting the model having good accuracy.Decision curve analysis revealed that the established nomogram model can get benefits under a large range of threshold probabilities.Conclusion We develop a prediction model for postoperative pulmonary embolism in patients with spontaneous cerebral hemorrhage after surgical treatment,which shows good prediction performance in both the training and validation groups,and can be used for accurate,prompt and quick identification for the occurrence of pulmonary embolism in clinical practice.

Objective To investigate the effects and potential mechanisms of Marsdeniae Tenacissimae Caulis(Tongguanteng)injection and extract in human osteosarcoma cells proliferation,migration,invasion,and apoptosis.Methods MNNG/HOS,Saos-2 osteosarcoma cells,and normal bone marrow mesenchymal stem cells(BMSC)were cultured in vitro.Cells were incubated with different concentrations of Tongguanteng injection and Tongguanteng extract(40,60,80 mg/mL).Cell proliferation was evaluated by CCK-8 assay and plate colony formation assay.Cell migration and invasion were evaluated by scratch assay and Transwell assay.Cell apoptosis was evaluated by Hoechst33342 staining and Annexin-V/PI double staining assay.Bax,Bcl-2 and Caspase-3 mRNA expression were detected using RT-qPCR.The protein expressions of JAK1,p-JAK1,STAT3,p-STAT3 and MMP9 were detected by Western blot.Results Compared with the control group,both Tongguanteng injection and extract significantly decreased the survival rate of MNNG/HOS and Saos-2 cells,inhibited cell clone formation,migration,and invasion,induced cell apoptosis(P<0.05,P<0.01),promoted Bax mRNA and protein expression,inhibited Bcl-2 mRNA and protein expression,and up-regulated Caspase-3 mRNA and Cleaved Caspase-3 protein expression.Tongguanteng injection could significantly down-regulate the expressions of p-JAK1,p-STAT3 and MMP9 protein expression in Saos-2 cells(P<0.05,P<0.01).Conclusion Both Tongguanteng injection and Tongguanteng extract can significantly inhibit proliferation,migration and invasion of human osteosarcoma MNNG/HOS and Saos-2 cells,and induce apoptosis,with no significant difference in anti-tumor effect.The mechanism may be related to the inhibition of the activation of JAK1/STAT3 signaling pathway.

Objective : To compare the disinfection effect of 3% (v/v) hydrogen peroxide and 500 mg/L chlorine-containing disinfectants in the independent waterway of a periodontal ultrasonic scaler to provide a reference for clinical waterway disinfection management in stomatology departments. Methods : The 18 ultrasonic scalers were randomly divided into 3 groups of 6 units: the control group, experimental group 1 (3% hydrogen peroxide disinfectant group), and experimental group 2 (500 mg/L chlorine-containing disinfectant group). The replaceable parts of the independent waterway pipes of the 3 groups of ultrasonic scalers were replaced, and the water supply was supplied with sterile distilled water (DW). In the control group, special treatment was not applied to the nonreplaceable pipe part. In experimental group 1, the 3% hydrogen peroxide was used to disinfect nonreplaceable pipelines. In experimental group 2, the nonreplaceable part was disinfected with the 500 mg/L chlorine-containing disinfectant. The water sample was taken from the outlet of the scaler working part in the three groups for monitoring before disinfection, immediately after disinfection and 10 consecutive days after disinfection. Bacteria in the water samples were cultured for the colony counts. Then, the bacterial culture data were compared between groups. The qualified criterion of the water sample was that the number of bacterial colonies was less than or equal to 100 CFU/mL. After disinfection, a bacterial species mass spectrometry identification analysis was carried out when the number of bacterial colonies in each group exceeded the standard for the first time. Biofilms from the inner wall of the tube in the three groups were observed under an electron microscope on the 10th day after disinfection. Results : There were no significant differences between the three groups before disinfection (F = 2.549, P = 0.111). The number of bacterial colonies in the spout of 6 scalers in the control group all exceeded the standard, and three kinds of bacteria were cultured: Sphingomonas melonis, Herbaspirillum huttiense, and Ralstonia pickettii. Compared with those in the control group, the number of bacterial colonies in experimental group 1 decreased significantly for 1-2 days after disinfection (P<0.05) and reached the standard. On the 3rd day after disinfection, the number of bacterial colonies of group 1 increased rapidly and exceeded the standard, and three kinds of bacteria were cultured: Sphingomonas, Herbaspirillum huttiense, and Ralstonia pickettii. For experimental group 2, the number of bacterial colonies decreased significantly compared to the control group on Days 1 to 6 after disinfection, but the number of bacterial colonies increased slightly from the 7th day after disinfection and exceeded the standard. Two kinds of bacteria were cultured: Herbaspirillum huttiense and Ralstonia pickettii. The average number of bacterial colonies 10-day after disinfection in experimental group 2 was lower than that in experimental group 1(P<0.001). Under an electron microscope, the biofilm thickness of the two experimental groups was significantly lower than that of the control group. Conclusion There is water pollution in the independent waterway of a periodontal ultrasound scaler. Three percent hydrogen peroxide and 500 mg/L chlorine disinfectant both have effective disinfection effects on the outlet water of scalers, and the effect of 500 mg/L chlorine disinfectant is better than that of 3% hydrogen peroxide. The use of 3% hydrogen peroxide to disinfect periodontal ultrasound scaler-independent waterways is recommended for disinfection every other day, and disinfection once a week is recommended for the use of 500 mg/L chlorine disinfectant.

Objective:To investigate risk factors of arrhythmia in elderly patients with early lung cancer after thoracoscopic pulmonary resection to construct a prediction model.Methods:Two hundreds and twenty elderly patients with early lung cancer after thoracoscopic pulmonary resection were retrospectively chosen in the period from January 2017 to January 2023 in Guang'an People's Hospital of Sichuan Province. The occurrence of arrhythmia was calculated, and the clinical data of patients with arrhythmia and those without arrhythmia were compared. Logistic regression was employeed to analyze the independent influencing factors of arrhythmia in elderly patients with early lung cancer after thoracoscopic pneumonectomy. Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic performance of regression model on arrhythmia after thoracoscopic pneumonectomy in elderly patients with early lung cancer.Results:Forty-one of 220 (18.64%) elderly patients with early lung cancer treated by thoracoscopic pneumonectomy had arrhythmia. There were statistically significant differences between patients with arrhythmia and patients without arrhythmia in age ( χ2=17.76, P<0.001), combined with essential hypertension ( χ2=21.06, P<0.001), forced expiratory volume in one second as a percentage of predicted value (FEV 1%) ( χ2=17.88, P<0.001), left atrium anterior-and-posterior diameter ( χ2=37.82, P<0.001), operation type ( χ2=27.09, P<0.001) and postoperative constipation ( χ2=18.25, P<0.001). The results of multivariate analysis showed that age>75 years old ( OR=22.17, 95% CI: 3.78-130.11, P=0.001), combined with essential hypertension ( OR=26.55, 95% CI: 3.99-176.95, P=0.001), FEV 1%≤70% ( OR=6.20, 95% CI: 1.37-28.11, P=0.018), left atrium anterior-and-posterior diameter>40 mm ( OR=10.84, 95% CI: 2.24-52.45, P=0.003), thoracoscopic lobectomy ( OR=7.07, 95% CI: 1.62-30.80, P=0.009), and postoperative constipation ( OR=79.97, 95% CI: 11.87-538.83, P<0.001) were all independent risk factors for arrhythmia after thoracoscopic pulmonary resection in elderly patients with early lung cancer. A prediction model was established for statistically significant indicators in multivariate analysis, ln ( P/1- P) =-7.89+3.10×age+3.28×combined with essential hypertension+1.82×FEV 1%+2.38×left atrium anterior-and-posterior diameter+1.96×operation type+4.38×postoperative constipation ( P was the prediction probability of P value in regression model). ROC curve analysis showed that the area under the curve (AUC) of predict arrhythmia after thoracoscopic pulmonary resection in elderly patients with early lung cancer were 0.64, 0.71, 0.68, 0.74, 0.76, 0.87 and 0.98, respectively. The Yoden index was 27.29%, 42.28%, 34.92%, 47.42%, 73.63%, 50.97% and 91.97%, respectively. Conclusion:Age>75 years old, combined with essential hypertension, FEV 1%≤70%, left atrium anterior-and-posterior diameter>40 mm, thoracoscopic lobectomy and postoperative constipation are all independent risk factors for arrhythmia after thoracoscopic pulmonary resection in elderly patients with early lung cancer. Nomogram model based on the above risk factors has high efficacy in predicting arrhythmia occurance after thoracoscopic pulmonary resection.

H 1-antihistamines are widely used in the treatment of various allergic diseases, but there are still many challenges in the safe and rational use of H 1-antihistamines in pediatrics, and there is a lack of guidance on the prescription review of H 1-antihistamines for children.In this paper, suggestions are put forward from the indications, dosage, route of administration, pathophysiological characteristics of children with individual difference and drug interactions, so as to provide reference for clinicians and pharmacists.

Objective:To investigate the effect of pulsed electric field (PEF) combined with low temperature plasma (LTP) on mouse liver cancer cell.Methods:H22 mouse liver cancer cells were divided into liver cancer group, PEF treatment group, LTP treatment group, combined group A (first PEF treatment immediately after LTP treatment), combined group B (first LTP treatment immediately after PEF treatment), combined group C (same as combined group A, but 20 minutes interval) and combined group D (same as combined group B, but 20 minutes interval). Cell viability was detected by cell counting, apoptosis was detected by flow cytometry, intracellular reative oxygen species (ROS) was marked by fluorescence and counted. Twenty healthy female Kunming mouse aged 4-6 weeks without specific pathogens were subcutaneous injected with liver cancer cells, and then were randomly divided into model group, PBS control group, PEF experimental group, LTP experimental group and combined group (LTP+ PEF, no interval) ( n=4). Tumor relative volume and tumor inhibition rate were measured. Results:The survival rates were liver cancer cell group (98.3±0.9)%, PEF treatment group (66.8±4.4)%, LTP treatment group (62.1±3.9)%, combined group A (43.7±3.7)%, combined group B (31.0±1.4)%, combined group C (46.8±2.9)%, combined group D (39.0±2.3)%. Compared with liver cancer cell group, the cell survival rate of all treatment groups was decreased, and the cell survival rate of the four combined treatment group was lower than that of PEF treatment group and LTP treatment group, the differences were statistically significant (all P<0.05). The survival rate of combined B group was the lowest. The results of apoptosis detection were consistent with those of cell survival rate. Under fluorescence microscope, the ROS fluorescence of cells in the combined group B was significantly increased, and the ROS fluorescence of cells in the LTP treatment group was more than that in the PEF treatment group, and the percentage of ROS positive cells in the combined group B was higher than that in the LTP treatment group and the PEF treatment group, with statistical significance (all P<0.05). Tumor relative volume and tumor inhibition rate in the combined group were better than those in the PEF and LTP groups, and the differences were statistically significant (all P<0.05). Conclusion:LTP combined with PEF has a better killing effect on H22 cells than PEF or LTP treatment, which is expected to be a new tumor therapy.