Objective:To evaluate the diagnostic value of rapid on-site evaluation (ROSE) performed by endoscopists for solid pancreatic lesions requiring tissue for immunohistochemistry (IHC) staining with different approach of endoscopic ultrasound-guided tissue acquisition (EUS-TA).Methods:After screening 1 573 cases who underwent EUS-TA operation at the Endoscopy Center of Peking Union Medical College Hospital between August 2018 and October 2022, a total of 65 cases of solid pancreatic lesions whose diagnosis rely on IHC staining was collected and summarized with clinical data of each case. Among 65 cases, there were 46 cases of pancreatic neuroendocrine tumors (PNETs), 13 cases of pancreatic solid pseudo-papillary tumors (SPTs), and 6 cases of lymphomas and mesenchymal. Patients were categorized into ROSE group (36 cases) and non-ROSE group (29 cases) according to the presence or absence of endoscopists performed ROSE during EUS-TA operation. They were further divided into subgroups of FNA-ROSE (26 cases), FNB-ROSE (10 cases), FNA-non-ROSE (24 cases) and FNB-non-ROSE (5 cases) according to the type of EUS-TA. Diagnostic accuracy and IHC success rate were compared between different groups and subgroups. Binomial logistic multifactorial regression analysis was used to evaluate the influence of ROSE and EUS-TA type on diagnostic accuracy and IHC success rate.Results:There were no statistically significant differences between ROSE group and non-ROSE group in terms of age, gender, bilirubin level, CA19-9 level, lesion site, lesion size, composition ratio of diagnosis, and surgical rate. The differences in mean size of lesions, needle gauge, location of puncturation, and number of needle pass between subgroups were not statistically significant. The diagnostic accuracy was 88.9% in ROSE group and 79.3% in non-ROSE group, and the difference between the two groups was statistically significant ( P=0.023). The diagnostic accuracy of FNA-ROSE group was higher than that of FNA-non-ROSE group (88.5% vs 75.0%), but the difference was not statistically significant ( P>0.100). The differences in diagnostic accuracy and success rate of IHC between FNB-ROSE group and FNB-non-ROSE group were not statistically significant. Binomial logistic multifactorial regression analysis did not reveal any independent influences on diagnostic accuracy. Conclusions:ROSE performed by endoscopists improved diagnostic accuracy of EUS-TA in solid pancreatic lesions requiring IHC staining, and therefore is potentially valuable for improving the diagnostic efficiency of EUS-TA for such diseases.

OBJECTIVE: To explore the genetic basis for a child with Aspartylglucosaminuria (AGU). METHODS: Clinical data of the patient was analyzed. The child was subjected to trio-whole exome sequencing (WES) and copy number variation sequencing (CNV-seq), and candidate variant was verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.319C>T (p.Arg107*) nonsense variant of the AGA gene, for which both of his parents were heterozygous carriers. No abnormality was found by CNV-seq analysis. The c.319C>T (p.Arg107*) variant was not found in population database, HGMD and other databases. Based on guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP3). CONCLUSION The c.319C>T variant of the AGA gene probably underlay the autosomal recessive AGU in this child. Above finding has enabled genetic counseling and prenatal diagnosis for his parents.
Female ; Pregnancy ; Humans ; Child ; Aspartylglucosaminuria ; DNA Copy Number Variations ; Genetic Counseling ; Genomics ; Heterozygote ; Mutation

Objective To investigate the effectiveness of esketamine aerosol inhalation combined with Ⅰ-gel laryngeal mask and Wellead bronchial occluder for thoracoscopic single lung ventilation surgery.Methods Seventy-five thoracic surgery patients,39 males and 36 females,aged 28-64 years,BMI 18-25 kg/m2,ASA physical status Ⅰ or Ⅱ,were selected for thoracoscopic surgery.Patients were randomly di-vided into three groups by digital table method:esketamine nebulizing inhalation combined with Ⅰ-gel laryn-geal mask and Wellead bronchial sealer group(group EW),Ⅰ-gel laryngeal mask combined with Wellead bronchial sealer group(group LW),and tracheal catheter combined with Wellead bronchial sealer group(group TW),25 cases in each group.The insertion time,extraction time,awakening time,and the highest PETCO2 value during single lung ventilation were recorded in the three groups.Airway peak pressure(Ppeak)and dynamic lung compliance(Cdyn)were recorded during 15 minutes of supine double-lung ven-tilation and 15 minutes of lateral single-lung ventilation.The changes of tumor necrosis factor-α(TNF-α),interleukin-6(IL-6),interleukin-8(IL-8)and other inflammatory factors in alveolar lavage fluid at 10 mi-nutes before single lung ventilation(T0),10(T1),30(T2),60 minutes(T3)after single lung ventila-tion,and at the end of single lung ventilation(T4),lung collapse score on the operative side,postoperative coughing,hoarseness,sore throat,and atelectasis occurred.Results Compared with group TW,the ex-traction time and awakening time of groups EW and LW were significantly shortened(P＜0.05),Ppeak was significantly decreased and Cdyn was significantly increased in group EW during double lung and single lung ventilation(P＜0.05),and Ppeak was significantly decreased and Cdyn was significantly increased in group LW during single lung ventilation(P＜0.05),TNF-α,IL-6 and IL-8 were significantly decreased at T2-T4 in groups EW and LW(P＜0.05),and the incidence of cough and throat pain was significantly de-creased(P＜0.05).Compared with group LW,Ppeak and Cdyn were significantly decreased in group EW during double lung and single lung ventilation(P＜0.05),and TNF-α,IL-6,and IL-8 were significantly decreased at T2-T4(P＜0.05).There were no significant differences in the insertion time,the highest val-ue of PET CO2 and the lung collapse score among the three groups,and no case of atelectasis occurred among the three groups.Conclusion The use of esketamine aerosol inhalation combined with Ⅰ-gel laryngeal mask and Wellead bronchial occluder for thoracoscopic surgery can ensure the required ventilation during surgery,significantly reduce airway irritation during general anesthesia induction and recovery,reduce pneumonia re-action,and improve lung compliance,which is worthy of clinical promotion.

Objective: To investigate the nutritional status and its relationship with the indexes of physical function and physical capacity among primary and middle school students in Xiamen, so as to provide statistical support for improving their nutritional status and physical health. Methods: A total of 2 752 primary and middle school students aged between 6 and 18 years old were selected in Xiamen. They were divided into malnutrition group, normal group and overweight and obesity group according to the national standards. Statistical analysis was carried out by chi square test, Kruskal wallis test and partial correlation analysis. Results: The prevalence of malnutrition among primary and secondary school students in Xiamen was 8.4%(231), the prevalence of overweight and obesity was 24.2%(667), and the prevalence of overweight and obesity among boys(31.4%) was higher than girls( 17.0 %).The distribution of nutritional status between different ages was statistically significant ( χ 2=40.43, P <0.05). On the lung activity index, both boys and girls were shown to be overweight and obesityConclusion The prevention and control situation of overweight between primary and secondary school students in Xiamen city, is more serious. Overweight and obesity are related to decline in physical function and physical fitness. Nutritional status should be paid more attention for physical fitness improvement among students.

Objective:To observe the effect of early intervention bundle on clinical prognosis of patients with latent/overt septic shock in emergency department and analyze the risk factors for mortality.Methods:Patients with latent and overt septic shock admitted to the North Hospital of Huashan Hospital Affiliated to Fudan University from January 2018 to December 2019 were retrospectively analyzed and divided into latent shock group and overt shock group. The gender, age, main infection site, the time of shock diagnosis, the indicators of early (3-hour) intervention bundle, 6-hour compliance rate of intervention bundle, the remission time and 28-day prognosis were observed. Logistic regression analysis was used to identify risk factors for 28-day mortality. Receiver operating characteristic (ROC) curve was used to analyze its prognostic value.Results:Totally 181 patients were included in the analysis. There were 102 cases in the latent shock group, and 28-day mortality was 15.69% (16 cases); 79 cases in the overt shock group, and 28-day mortality was 31.65% (25 cases). Compared with the latent shock group, patients in overt shock group had higher compliance rate of early intervention bundle (93.67% vs. 58.82%), higher blood lactate acid at admission [Lac (mmol/L): 7.09±2.08 vs. 5.69±1.27], higher compliance rate of blood culture before antibiotics (93.67% vs. 63.73%), higher proportion of antibiotics use at the first and second hours (45.57% vs. 31.37%, 54.43% vs. 33.33%), higher proportion of rapid fluid resuscitation at the first hour (crystal liquid: 59.49% vs. 11.76%, crystal fluid combined with human serum albumin: 40.51% vs. 0%), and higher proportion of vasoactive use at the first hour (100% vs. 9.80%). The stable time was significantly prolonged (days: 4.40±1.35 vs. 1.49±0.55), while the onset time (days: 1.47±0.97 vs. 2.95±1.61), the time of diagnosis (minutes: 31.30±12.54 vs. 79.15±13.81), 6-hour lactate clearance [(50.27±21.53)% vs. (61.82±13.12)%], the proportion of antibiotics use at the third hour (0% vs. 35.29%), the proportion of rapid fluid resuscitation at the second and third hour (second hour crystal liquid: 0% vs. 60.78%, second hour crystal fluid combined with human serum albumin: 0% vs. 14.71%, third hour crystal liquid: 0% vs. 12.75%), 6-hour compliance rate of the standard of central venous blood saturation (ScvO 2, 60.76% vs. 78.43%) and the success rate of treatment (28-day mortality: 31.65% vs. 15.69%) were lower than those of the latent shock group (all P < 0.05). Ten patients with latent shock developed into overt shock within 24 hours after admission. All patients with overt shock needed vasoactive drugs to maintain mean arterial pressure (MAP) ≥ 65 mmHg (1 mmHg = 0.133 kPa). Compared with the survival patients, the Lac (mmol/L: 7.59±2.27 vs. 5.92±1.24) and the proportion of vasoactive drugs use (65.85% vs. 44.29%) were significantly increased in the death patients, while the 6-hour lactate clearance [(46.58±15.83)% vs. (59.60±17.92)%], the proportion of antibiotics use in the third hour (4.88% vs. 24.29%), and 6-hour compliance rate of urine volume and ScvO 2 (56.10% vs. 82.86%, 43.90% vs. 78.57%) were significantly decreased (all P < 0.05). Binary Logistic regression analysis showed that Lac at admission, 6-hour lactate clearance, the use of antibiotics at the third hour, rapid fluid resuscitation at the first hour, and 6-hour compliance rate of ScvO 2 were independent risk factors for 28-day mortality [odds ratio ( OR) was 1.618, 0.021, 0.100, 0.307 and 3.018, all P < 0.05]. ROC curve analysis showed that the Lac at admission had the highest predictive value for 28-day mortality, the area under the ROC curve (AUC) was 0.706; followed by 6-hour compliance rate of ScvO 2 (AUC was 0.673). Conclusion:Patients with latent/overt septic shock need early diagnosis and intervention bundle to improve the 6-hour blood lactate clearance and 6-hour compliance rate of ScvO 2 and reduce the mortality.

OBJECTIVE:To investigate the effects of Danshen chuanxiongqin injection combined with hyperbaric oxygen on the prevention of early complications in patients with acute spinal cord injury (ASCI).METHODS:A total of 89 ASCI patients were divided into control group (n=44) and combination group (n =45) according to random number table.Control group received routine symptomatic treatment combined with hyperbaric oxygen therapy.Combination group was additionally given Danshen chuanxiongqin intravenous injection 10 mL added into 250 mL 0.9％ Sodium chloride injection intravenously,bid,on the basis of control group.Both group was treated for 2 weeks.The changes of spinal cord function recovery index (Botsford score,FIM score),coagulation indexes [prothrombin time (PT),activated partial thromboplastin time (APTT)],hemodynamic indexes (high-shear blood viscosity,plasma viscosity,erythrocyte aggregation indexes) and inflammatory indexes [D-dimer (D-D),C reactive protein (CRP)] were compared between 2 groups before and after treatment.After 1 month of follow-up,the incidence of early complications as deep venous thrombosis and pulmonary embolism were compared between 2 groups.RESULTS:Two cases lost in control group and three cases lost in combination group;42 cases were included in each group.Before treatment,there was no statistical significance between these indexes between 2 groups (P＞0.05).After 2 weeks of treatment,Botsford score,FIM score,PT and APTT of 2 groups were enhanced significantly compared to before treatment;high-shear blood viscosity,plasma viscosity,erythrocyte aggregation indexes,D-D,CRP level were decreased significantly compared to before treatment;each index of combination group was significantly better than those of control group,with statistical significance (P＜0.05 or P＜0.01).The incidence of early complications in combination group was 16.7％,which was significantly lower than 35.7％ in control group,with statistical significance (P＜0.05).CONCLUSIONS:The application of Danshen chuanxiongqin injection combined with hyperbaric oxygen in the clinical treatment of ASCI can effectively reduce the risk of deep venous thrombosis,pulmonary embolism and other early complications.It has positive effects on alleviating inflammatory reactions,promoting blood microcirculation and improving prognosis of patients.

Objective To evaluate the clinical efficacy of polyethylene glycols (PEG) on functional constipation in children by Meta-analysis.Methods The Medline,Pubmed,Cochrane database,Embase,VIP database,China Knowledge Resource Integrated Database (CNKI) and WANFANG MED ONLINE resources were reviewed for the treatment with polyethylene glycols on functional constipation in children from the inception to December 2016 to collect all randomized controlled trials (RCTs) or comparative prospective studies.Revman 5.3 software was used to assess risk of bias of the Cochrane Collaboration's tool.A Meta analysis of the therapeutic effect of polyethylene glycols on functional constipation in children was conducted by Stata1 1.0 software.The pooled standardized mean difference (SMD) and 95％ confidence interval (95％ C/) were calculated in order to know the clinical efficacy of polyethylene glycols on functional constipation in children.Results Seven literatures were included in our Meta analysis.There were 662 children were included in this study,and they were divided into PEG treatment group (n=318) and non-PEG treatment group (n=344).The forest plot results of Meta analysis showed that the main effect index weekly stool frequency was significantly higher in PEG treatment group than that of lactulose group,according to the different control measures.The main effect index weekly stool frequency was significantly higher in PEG treatment group than that of non-PEG treatment group,according to the mapping forest chart displayed different clinical effect observation time points.Results from Meta analysis showed that the secondary effect index successful stool consistency improvement was significantly higher in PEG treatment group than that of non-PEG treatment group,according to different observation time points.Conclusion Polyethylene glycols is safe and effective in the treatment of functional constipation in children.

Objective To analyse the negative predictive value of endoscopic ultrasonography (EUS)for detecting pancreatic cancer and to evaluate its clinical value of ruling out malignant cancer. Methods The medical records of patients who were referred to pancreatic EUS with suspected pancreatic cancer and normal EUS findings from January 2005 to December 2013 were reviewed. Moreover,the follow-up data were reviewed to evaluate whether the patient developed pancreatic cancer or other malignancy that could cause the abnormality mentioned above. The follow-up data were obtained by examining the inpatient/outpatient records as well as conducting brief telephone interviews. Results A total of 122 patients were in-cluded in our study. The follow-up data of 108 were accessible,and the mean follow-up period was 52. 4 months. One patient was histopathologically diagnosed as having pancreatic cancer 6 years after the proce-dure,and 107 other patients with a normal pancreatic EUS were free of pancreatic cancer as well as other malignancy during the follow-up period. The negative predictive value of pancreatic EUS was 99. 1%(107/108). Conclusion For patients with suspected pancreatic cancer but normal EUS findings,there is no need for further exploratory surgery. However,if there is a high suspicion of malignancy in the pancreas,a repeat-ed EUS is necessary in case of a false negative EUS result.

RNA interference (RNAi) is useful for selective gene silencing. Cytochrome P450 3A4 (CYP3A4), which metabolizes approximately 50% of drugs in clinical use, plays an important role in drug metabolism. In this study, we aimed to develop a short hairpin RNA (shRNA) to modulate CYP3A4 expression. Three new shRNAs (S1, S2 and S3) were designed to target the coding sequence (CDS) of CYP3A4, cloned into a shRNA expression vector, and tested in different cells. The mixture of three shRNAs produced optimal reduction (55%) in CYP3A4 CDS-luciferase activity in both CHL and HEK293 cells. Endogenous CYP3A4 expression in HepG2 cells was decreased about 50% at both mRNA and protein level after transfection of the mixture of three shRNAs. In contrast, CYP3A5 gene expression was not altered by the shRNAs, supporting the selectivity of CYP3A4 shRNAs. In addition, HepG2 cells transfected with CYP3A4 shRNAs were less sensitive to Ginkgolic acids, whose toxic metabolites are produced by CYP3A4. These results demonstrate that vector-based shRNAs could modulate CYP3A4 expression in cells through their actions on CYP3A4 CDS, and CYP3A4 shRNAs may be utilized to define the role of CYP3A4 in drug metabolism and toxicity.