Objective:To analyze the clinical features and genetic characteristics of a patient with Shwachman-Diamond syndrome (SDS) due to compound heterozygous variants of SBDS gene.Methods:A female child with SDS who was admitted to the Children's Hospital Affiliated to Zhengzhou University in February 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her elder sister and parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a 1-year-and-1-month-old girl, had mainly manifested with diarrhea, hematochezia, growth retardation and malnutrition, along with increased transaminases and decreased neutrophils and hemoglobin. The anteroposterior X-ray of her left wrist indicated significantly delayed bone age. Colonoscopy revealed that her colorectal mucosa was erosive with oily food residues attached to the intestinal lumen. Genetic testing revealed that she has harbored c. 258+ 2T>C and c. 100A>G compound heterozygous variants of the SBDS gene. The c. 258+ 2T>C variant has derived from her father and known to be pathogenic, whilst the other has derived from her mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 100A>G variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PM3+ PM5+ PP3). Conclusion:The compound heterozygous variants of c. 258+ 2T>C and c. 100A>G probably underlay the SDS in this child. For children with refractory diarrhea, liver damage and growth retardation, SDS should be suspected, and genetic testing can facilitate the diagnosis and treatment.

Retiform hemangioendothelioma (RH) is a rare vasogenic malignancy with a high local recurrence rate and rare distant metastasis. Hepatic RH in infants is extremely rare. Here we report a case of liver RH in a 7-month-old infant.

Objective:To analyze the general chapter for lotions 0127 of the Chinese Pharmacopoeia 2020 Vol-ume Ⅳ,and discuss how to improve the general technical requirements of lotions 0127 in the Chinese Pharma-copoeia.Methods:By comparing the general chapter for lotions in domestic and international pharmacopoe-ias,the definition,classification,process,storage and corresponding inspection requirements were analyzed.Results and Conclusions:The general chapter for lotions 0127 of the Chinese Pharmacopoeia should be revised,including improvement of the definition,increasement of forms of preparations,and expansion of included varieties,so as to promote scientific regulation for drugs and exhibit a guiding role of the Chinese pharmacopoeia in drug control.

Objective To investigate the expression of serum miR-133a-3p and miR-324-3p in patients with persistent atrial fibrillation and their relationship with recurrence of atrial fibrillation after radiofrequency ablation.Methods A total of 180 patients with persistent atrial fibrillation(persistent atrial fibrillation group)who were hospitalized in Cangzhou City People's Hospital from July 2019 to July 2022 and received radiofrequency ablation were collected as research objects.According to whether atrial fibrillation recurred,they were assigned into a non recurrence group(n=116)and a recurrence group(n=64).Meanwhile,another 180 healthy individuals who underwent physical examination at the hospital were regarded as the control group.The expression levels of serum miR-133a-3p and miR-324-3p of each group were compared.Multivariate Logistic regression was applied to analyze the factors influencing the recurrence of persistent atrial fibrillation after radiofrequency ablation,and ROC curve analysis was applied to analyze the predictive value of serum miR-133a-3p and miR-324-3p levels for the recurrence of atrial fibrillation in patients with persistent atrial fibrillation after radiofrequency ablation.Results Compared with the control group,the levels of serum miR-133a-3p(0.76±0.25)and miR-324-3p(0.68±0.21)in the persistent atrial fibrillation group were lower than the control group(1.03±0.32,1.05±0.30),and the differences were statistically significant(t=8.921,13.556,all P<0.05).The serum levels of miR-133a-3p(0.58±0.19)and miR-324-3p(0.50±0.16)in the recurrent group were obviously lower than those in the non recurrent group(0.86±0.27,0.78±0.25),and the differences were statistically significant(t=7.349,8.087,all P<0.05).Multivariate Logistic regression analysis showed that serum miR-133a-3p[OR(95%CI):0.673(0.534～0.848)]and miR-324-3p[OR(95%CI):0.756(0.629～0.909)]were protective factors for atrial fibrillation recurrence after radiofrequency ablation in patients with persistent atrial fibrillation,while heart rate[OR(95%CI):2.143(1.265～3.631)]and LAD[OR(95%CI):1.756(1.159～2.661)]were independent risk factors for atrial fibrillation recurrence after radiofrequency ablation in patients with persistent atrial fibrillation(all P<0.05).The AUC of the combination of miR-133a-3p and miR-324-3p in predicting atrial fibrillation recurrence after radiofrequency ablation in patients with persistent atrial fibrillation was 0.901,with the sensitivity and specificity were 82.81%and 86.21%,respectively,which was better than those of their respective prediction alone(Z=4.210,2.804,all P<0.05).Conclusion The expressions of serum miR-133a-3p and miR-324-3p in patients with persistent atrial fibrillation are reduced,and the combination of the two has a good reference value in predicting the recurrence of atrial fibrillation in patients with persistent atrial fibrillation after radiofrequency ablation.

Age-dependent loss of skeletal muscle mass and function is a feature of sarcopenia, and increases the risk of many aging-related metabolic diseases. Here, we report phenotypic and single-nucleus transcriptomic analyses of non-human primate skeletal muscle aging. A higher transcriptional fluctuation was observed in myonuclei relative to other interstitial cell types, indicating a higher susceptibility of skeletal muscle fiber to aging. We found a downregulation of FOXO3 in aged primate skeletal muscle, and identified FOXO3 as a hub transcription factor maintaining skeletal muscle homeostasis. Through the establishment of a complementary experimental pipeline based on a human pluripotent stem cell-derived myotube model, we revealed that silence of FOXO3 accelerates human myotube senescence, whereas genetic activation of endogenous FOXO3 alleviates human myotube aging. Altogether, based on a combination of monkey skeletal muscle and human myotube aging research models, we unraveled the pivotal role of the FOXO3 in safeguarding primate skeletal muscle from aging, providing a comprehensive resource for the development of clinical diagnosis and targeted therapeutic interventions against human skeletal muscle aging and the onset of sarcopenia along with aging-related disorders.
Animals ; Humans ; Sarcopenia/metabolism* ; Forkhead Box Protein O3/metabolism* ; Muscle, Skeletal/metabolism* ; Aging/metabolism* ; Primates/metabolism*

Objective:To investigate the efficacy of different laparoscopic surgeries for gastrointestinal stromal tumors (GIST) of gastric cardia and fundus.Methods:The retrospective cohort study was conducted. The clinicopathological data of 251 patients with GIST of gastric cardia and fundus who underwent laparoscopic radical resection in 14 medical centers, including Guangdong Provincial People′s Hospital et al, from December 2007 to December 2021 were collected. There were 123 males and 128 females, aged 58(24,87)years. Observation indicators: (1) treatment; (2) clinicopathological data of patients undergoing different laparoscopic surgeries; (3) subgroup analysis for special laparoscopic techniques. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test or ANOVA. Measure-ment data with skewed distribution were represented as M( Q1, Q3), and comparison between groups was conducted using the Mann-Whitney U test or Kruskal-Wallis H test. Count data were described as absolute numbers or percentages. Comparison of ordinal data was conducted using the rank sum test. Results:(1) Treatment. Of the 251 patients,202 cases underwent gastric wedge resection, 26 cases underwent special laparoscopic techniques including 10 cases with serotomy and dissection and 16 cases with transluminal gastrectomy, 23 cases underwent structural gastrectomy including 6 cases with total gastrectomy and 17 cases with proximal partial gastrectomy. There were 24 patients had postoperative complications after surgery. (2) Clinicopathological data of patients undergoing different laparoscopic surgeries. The gender (male, female), age, tumor diameter, operation time, volume of intraoperative blood loss, length of incision, time to postoperative initial whole liquid food intake, time to postoperative initial semi-liquid food intake, duration of postoperative hospital stay, cases with perioperative complications, cases with mitotic count as ≤5/50 high power field, 6?10/50 high power field, >10/50 high power field, cases be classified as very low risk, low risk, medium risk, high risk according to the National Institutes of Health risk classification, cases with tumor located at fundus and gastric cardia were 93, 109, (59±11)years, 3.50(0.40,10.00)cm, 88.00(25.00,290.00)minutes,20.00(25.00,290.00)mL, 4.00(2.00,12.00)cm, 3.00(1.00,9.00)days, 4.00(1.00,16.00)days, 5.00(1.00,18.00)days, 14, 164, 31, 7, 47, 83, 50, 22, 30, 172 in patients undergoing gastric wedge resection, respectively. The above indicators were 19, 7, (49±14)years, 2.55(0.20,5.00)cm, 101.00(59.00,330.00)minutes, 27.50(2.00,300.00)mL, 4.50(0,6.00)cm, 2.50(1.00,10.00)days, 4.00(1.00,16.00)days, 6.00(1.00,18.00)days, 3, 20, 5, 1, 15, 5, 2, 4, 24, 2 in patients undergoing special laparos-copic techniques, and 11, 12, (52±10)years, 5.00(0.80,10.00)cm, 187.00(80.00,325.00)minutes, 50.00(10.00,300.00)mL, 6.00(4.00,12.00)cm, 4.00(2.00,8.00)days, 6.00(3.00,14.00)days, 8.00(2.00,18.00)days, 7, 11, 5, 7, 2, 6, 6, 9, 13, 10 in patients undergoing structural gastrectomy. There were significant differences in the above indicators among the three groups of patients ( χ2=6.75, F=10.19, H=17.71, 37.50, 35.54, 24.68, 16.09,20.20, 13.76, χ2=13.32, Z=28.98, 32.17, χ2=82.14, P<0.05). (3) Subgroup analysis for special laparoscopic techniques. The time to postoperative initial whole liquid food intake, time to postoperative initial semi-liquid food intake, classification of tumor location (endophytic type, exophytic type, parietal type) were 4.50(1.00,10.00)days, 8.00(3.00,12.00)days, 0, 8, 2 in patients undergoing serotomy and dissection, versus 2.00(1.00,4.00)days, 3.00(1.00,6.00)days, 16, 0, 0 in patients undergoing transluminal gastrectomy. There were significant differences in time to postoperative initial whole liquid food intake, time to postoperative initial semi-liquid food intake between them ( Z=-2.65, -3.16, P<0.05); and there was a significant difference in classification of tumor location between them ( P<0.05). Conclusions:Gastric wedge resection is the most commonly used laparoscopic technique for GIST of gastric cardia and fundus. The application of special laparoscopic techniques is focused on the GIST of cardia to preserve the function of the cardia.

Objective:To evaluate radiofrequency ablation-assisted liver resection on early recurrence of hepatocellular carcinoma(HCC) with microvascular invasion (MVI).Methods:A total of 82 HCC patients from Jun 2015 to Jun 2020 were divided into assisted group ( n=41) and control group ( n=41) after local hepatectomy.And by pathology,both groups were further substratified into with or without MVI subgroups. Results:There was no statistically significant difference in the baseline data between two groups,nor there was difference in recurrence-free survival rate between the two groups ( χ 2=0.177, P=0.674). However, by subgroup analysis, the recurrence-free survival rate of ablation assisted group was higher than that of the simple local hepatectomy group among MVI positive patients ( χ 2=5.096, P = 0.024).Multivariate analysis showed that only tumor diameter ( HR=1.32, 95% CI: 1.02-1.72, P=0.036) was an independent risk factor for local recurrence at the incisal margin, while mode of operation ( HR=0.15 ,95% CI: 0.04-0.52 ,P=0.003) and MVI ( HR=8.65 ,95% CI: 2.19-34.19 ,P=0.002) were independent risk factors for intrahepatic distant metastasis. Conclusion:Local hepatectomy assisted by intraoperative radiofrequency ablation on hepatic cross section could effectively reduce the postoperative early recurrence rate for hepatocellular carcinoma patients with MVI.

Objective To investigate the independent risk factors for acute severe cholangitis and related protective factors, and to construct a risk prediction scoring model for acute severe cholangitis. Methods A retrospective analysis was performed for the clinical data of 381 patients with acute cholangitis who were admitted to Department of Hepatobiliary Surgery, The 940th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army, from January 2016 to July 2021, among whom there were 273 patients with non-severe cholangitis and 108 patients with severe cholangitis. Univariate and multivariate logistic regression analyses were used to screen out the independent risk factors for acute severe cholangitis and related protective factors, and then a logistic regression model was established. The receiver operating characteristic (ROC) curve was used to evaluate the discriminatory ability of the model, the calibration curve was used to evaluate the prediction accuracy of the model, and decision curve analysis (DCA) was used to evaluate the clinical value of the model. Moreover, the enhanced Bootstrap method was used to perform internal validation of the model and evaluate the performance of the model in internal validation. The model was visualized by the construction of Web calculator, nomogram, and scoring system. The two-independent-samples t test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups; the chi-square test was used for comparison of categorical data between groups. Results The univariate and multivariate logistic regression analyses showed that total bilirubin (TBil) (odds ratio [ OR ]=1.014, 95% confidence interval [ CI ]: 1.009-1.020, P < 0.001), percentage of neutrophils ( OR =1.128, 95% CI : 1.088-1.175, P < 0.001), and age ( OR =1.053, 95% CI : 1.027-1.082, P < 0.001) were independent risk factors, and albumin (Alb) ( OR =0.871, 95% CI : 0.817-0.924, P < 0.001) was a protective factor. The above independent risk factors and protective factor were included in the logistic regression analysis for model fitting, and the predictive model obtained had an area under the ROC curve (AUC) of 0.925 (95% CI : 0.897-0.952), with a specificity of 0.817 and a sensitivity of 0.935 at the optimal cut-off value of 0.245. The calibration curve showed that the predicted probability of the model was approximately equal to the actual probability, with a Brier value of 0.098, and the decision curve analysis showed that the model had a higher net income within the threshold probability interval of 0.1-0.9. Internal validation showed an AUC internal validation of 0.915 and a Brier value internal verification of 0.106. Conclusion TBil, percentage of neutrophils, and age are independent risk factors for acute severe cholangitis, while Alb is a protective factor. The established risk prediction scoring model has good discriminatory ability, calibration, and clinical value and can identify patients with acute severe cholangitis at an early stage, which provides a reference for subsequent diagnosis and treatment.

ObjectiveTo explore the related factors of troublemaking behaviors among patients with mental disorders induced by amphetamine-type stimulants （ATS）， and to provide references for the formulation of relevant intervention measures for ATS-induced mental disorders. MethodsA total of 105 patients who met the diagnostic criteria of International Classification of Diseases， tenth edition （ICD-10） for ATS-induced mental disorders were included， and classified into troublemaking group and non-troublemaking group. The general demographic data and clinical data of the selected individuals were collected， and all patients were assessed using Social Support Rating Scale （SSRS）. Then univariate analysis and multivariate Logistic regression model were used to screen the related factors of troublemaking behaviors. ResultsThe scores of SSRS， objective support dimension and social support utilization dimension were significantly lower in troublemaking group than those in non-troublemaking group， with statistical differences ［（24.10±6.59） vs. （28.94±5.59）， t=3.364， P=0.001； （5.50±1.96） vs. （8.20±2.13）， t=5.183， P<0.01； （4.60±2.26） vs. （6.28±1.90）， t=3.435， P=0.001］. Multivariate Logistic regression analysis showed that male （OR=6.061， P=0.014） was a risk factor， while high social support level （OR=0.873， P=0.018） was the protective factor for troublemaking behaviors among patients with ATS-induced mental disorders. ConclusionPatients with ATS-induced mental disorders of the males and with low social support level are at high risk of troublemaking behaviors.

Objective: To analyze the epidemiological characteristics of HIV/AIDS infected students in Shandong Province, to provide a basis for the prevention and control of AIDS transmission in the student population. Methods: All 863 HIV/AIDS students cases during 2010-2019 were collected in Shandong Province. Epidemiological characteristics was described and the trends in the 10 years since 2010 was analyzed. Results: These 863 HIV/AIDS students were mainly transmitted through homosexual sex (763 cases, 88.41%), and the samples were mainly from voluntary consultation testing (433 cases, 50.17%). From 2010 to 2019, the proportion of student cases in the total number of cases showed an increasing trend ( χ 2 trend =30.21, P <0.01). Among them, the proportion of homosexual transmission cases increased year by year ( χ 2 trend =6.35, P =0.01), the proportion of cases aged 18-22 years increased year by year ( χ 2 trend =6.10, P =0.01), the proportion of cases with college degree or above increased year by year ( χ 2 trend =4.26, P =0.04). At present, voluntary consultation testing were the main source.There was no significant difference between the years of sample sources ( χ 2 trend =2.97, P =0.09). Conclusion The report number of students in Shandong Province are on the rise in recent years, especially those infected by same sex transmission, mainly with high education background, which calls for targeted strategies and intervention measures.