OBJECTIVE: To explore the clinical and molecular characteristics of a child with Congenital disorders of glycosylation (CDG). METHODS: A 4-month-old boy who had presented at the Children's Hospital Affiliated to Zhejiang University Medical School on December 31, 2019 due to feeding difficulties after birth was selected as the study subject. High-throughput sequencing was carried out for the patient, and real-time qPCR was used for validating the suspected deletion fragments and the carrier status of other members of his family. RESULTS: High-throughput sequencing revealed that the child had lost the capture signal for chrX: 153 045 645-153 095 809 (approximately 50 kb), which has involved 4 OMIM genes including SRPK3, IDH3G, SSR4 and PDZD4. qPCR verified that the copy number in this region was zero, while that of his elder brother and parents was all normal. CONCLUSION The deletion of the fragment containing the SSR4 gene in the Xq28 region probably underlay the SSR4-CDG in this child.
Aged ; Child ; Humans ; Infant ; Male ; Gene Deletion ; Glycosylation ; High-Throughput Nucleotide Sequencing ; Neoplasm Proteins ; Parents ; Siblings

Background: Job performance is known as an essential reflection of nursing quality. Colleague solidarity, positive emotion, and turnover intention play effective roles in a clinical working environment, but their impacts on job performance are unclear. Investigating the association between nurses’ colleague solidarity and job performance may be valuable, both directly and through the mediating roles of positive emotion and turnover intention. Methods: In this cross-sectional study, a total of 324 Chinese nurses were recruited by convenience sampling method from July 2016 to January 2017. Descriptive analysis, Spearman’s correlation analysis, and the structural equation model were applied for analysis by SPSS 26.0 and AMOS 24.0. Results: A total of 49.69% of participants were under 30 years old, and 90.12% of participants were female. Colleague solidarity and positive emotion were positively connected with job performance. The results indicated the mediating effects of positive emotion and turnover intention in this relationship, respectively, as well as the chain mediating effect of positive emotion and turnover intention. Conclusions In conclusion, dynamic and multiple supportive strategies are needed for nurse managers to ameliorate nursing job performance by improving colleague solidarity and positive emotion and decreasing turnover intention based on the job demand-resource model.

Objective:To explore the ability of sequential immunization regimen inducing neutralizing antibodies against severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) Wuhan-Hu1 and Omicron variants in mice.Methods:Groups of 6-8-week-old BALB/c mice were primed with two doses of Wuhan-Hu-1 inactivated vaccine, and then boosted with Omicron or Wuhan-Hu-1 inactivated vaccine, respectively. Binding antibodies were tested by enzyme linked immunosorbent assay; and neutralizing antibodies against Wuhan-Hu1 and Omicron variants were analyzed by vesicular stomatitis virus pseudovirus assay system; SARS-CoV-2 specific cellular immune responses were quantified by enzyme-linked immunosorbent spot assay.Results:IgG antibodies against Wuhan-Hu1, Delta and Omicron RBD were enhanced after the second dose of Wuhan-Hu1 inactivated vaccine. Compared with Wuhan-Hu1 inactivated vaccine, the group boosted with Omicron inactivated vaccine improved Wu-RBD and Omic-RBD specific IgG antibodies 1.41 and 1.26 times, and serum neutralizing antibodies against BA.1, BA.2, BA.4/5 and BF.7 were elevated 4.5, 3.4, 12.1 and 6.5 folds, respectively, by sequential immunization. After booster immunization with inactivated Wuhan-Hu1 or Omicron vaccines, Wu-RBD IgA titer was significantly higher than that of one dose inactivated Wuhan-Hu1 vaccine ( P=0.005 7, P=0.006 1). Conclusions:Neutralizing antibodies against Omicron variants were enhanced by sequential immunization with Omicron inactivated vaccine. Specific IgA was significantly enhanced after the third dose of inactivated vaccine.

Objective:Based on the artificial intelligence (AI) technology in endoscopy and the internet platform, to explore and construct a safe, standardized, scientific and rigorous database for digestive endoscopy, and to provide reference and evidence for the data quality control of AI in digestive endoscopy in China.Methods:After referring to relevant guidelines and standards, data collection and labelling standards of digestive endoscopy of 12 common gastrointestinal diseases were determined. The software of online collection and labelling of multi-center digestive endoscopy data in Shandong Province was developed. Endoscopic equipment with a domestic market share of >5% was used and dozens of experienced endoscopists from 9 medical centers in Shandong Province were uniformly trained for data labelling. From July 2019 to July 2020, the endoscopic examination data from 9 medical centers including Qilu Hospital of Shandong University, Shandong Provincial Hospital , Liaocheng People′s Hospital, Linyi People′s Hospital, Weihai Municipal Hospital, Taian City Central Hospital, Binzhou Medical University Hospital, Yantai Yuhuangding Hospital and Qilu Hospital of Shandong University (Qingdao) were prospectively and continuously collected and labeled. The optimized, desensitized, and generalized data were uploaded to the server. After the file synchronization, data processing, and expert review, a multi-center digestive endoscopy AI database with standard data collection and labelling in Shandong Province was constructed, namely cloud platform. Descriptive methods were used for statistical analysis.Results:The collection and labelling standards for multi-center digestive endoscopy AI data in Shandong province was established. The software of online collection and labelling of multi-center digestive endoscopy AI data in Shandong province was developed. The database in Shandong province was successfully constructed. In the database, 43 010 lesions, 40 353 images, and 11 289 examinations were labeled. Among them, there were 2 906 cases of early esophageal cancer, 2 912 cases of early gastric cancer, 2 397 cases of early colorectal cancer, and 9 773 cases of colorectal polyps (5 539 cases of adenomatous polyps, 1 161 cases of non-adenomatous polyps and 3 073 case of undetermined polyps).Conclusions:The multi-center AI cloud platform for digestive endoscopy in Shandong Province adopts unified standards and collection and labeling software, which ensures the safety and standardization of endoscopy data. It provides a reference and basis for the construction of a quality control system for standardized data collection and labelling of digestive endoscopy AI data in our country and for the third-party data supervision.

Objective Based on the Kabat-Zinn's mindfulness decompression therapy and Teasdale's mindfulness cognitive therapy,and using the solution-focused approach as the frame structure,we establish comprehensive,standard mindfulness interventions scheme of domiciliary patients with chronic obstructive pulmonary disease,which can provide the basis for the development of the community and residential care.Methods Twenty-six experts were selected as the target of the study and two rounds of correspondence were used to establish the final mindfulness intervention plan of the domiciliary patients with chronic obstructive pulmonary disease.Meanwhile,the reliability and representativeness of the consultation are tested by using the coordination degree,positive coefficient and authoritative coefficient of expert opinions.Results The positive coefficient of the two round correspondence experts were 88.46%(23/26)and 100.00%(23/23),and the expert authority coefficient was 0.90 and 0.91.The variation coefficient of the indicators after two rounds of expert consultation was 0.04-0.14,the coordination coefficient of experts was 0.32(P＜0.01)and 0.59(P＜0.01)respectively.The final construct of domiciliary patients of chronic obstructive pulmonary disease with the intervention programme consists of 5 steps,25 entries,which was suitable for the positive reading intervention scheme.Conclusions The results show that experts enquiry for representative and high credibility,and the mindfulness intervention plan of domiciliary patients with chronic obstructive pulmonary disease is scientific and practical.

Objective To investigate the clinical value of pulsed pulmonary function in the diagnosis of chronic obstructive pulmonary disease (COPD).Methods 32 patients with chronic obstructive pulmonary disease admitted to Haiyang People's Hospital from March 2016 to March 2017 were selected as observation group .Another 32 cases without COPD were selected as control group .All the patients received pulsed pulmonary function test .The relevant indicators of oscillation technology and pulmonary function test indicators were compared between the two groups.Results The resonance frequency , total respiratory impedance , central airway resistance and peripheral airway resistance in the observation group were (16.9 ±1.5)kPa · L-1· s-1,(0.46 ±0.03)kPa· L-1· s-1, (0.56 ±0.05)kPa · L-1· s-1 and (0.15 ±0.03)kPa · L-1· s-1,which were significantly higher than those in the control group [(9.5 ±0.3)kPa· L-1· s-1,(0.26 ±0.01)kPa · L-1· s-1,(0.24 ±0.01)kPa· L-1· s-1, (0.02 ±0.01)kPao· L-1· s-1] (t=30.595,40.000,39.691 and 26.000,all P<0.05).The FEV1％ in the observation group was (41.5 ±1.9)％,which was lower than (81.1 ±2.0)％ in the control group(t=47.229,P<0.05).The FEV1/FVC level in the observation group was (49.5 ±3.3),which was lower than (81.9 ±2.6) in the control group(t=21.678,P<0.05).Conclusion The results of pulsed pulmonary function are synchronous and consistent with routine pulmonary function test ,especially for elderly ,pediatric and critically ill patients .

OBJECTIVETo study polymorphisms of catechol-O-methyltransferase (COMT) and monoamine oxidase B (MAO-B) genes among Chinese patients with Parkinson's disease.

METHODSGenotypes of the COMT and MAO-B genes of 1408 patients with Parkinson's disease was sequenced using Sanger method. And these patients were recruited by Chinese Parkinson Study Group from 29 research centers throughout the country.

RESULTSThe genotypic frequencies of COMT rs4680 AA, AG, GG were 8.9%, 42.0% and 49.1%. Those of rs4818 CC, CG, GG were 42.5%, 45.6% and 11.9%, respectively. The genotype frequencies of MAO-B rs1799836 A/AA, AG, G/GG were 74.4%, 14.1% and 11.5%, respectively. The haplotype formed by COMT rs4680 (GG) and MAO-B rs1799836 (A/AA) genotype has a frequency of 36.86%.

CONCLUSIONPolymorphisms of COMT and MAO-B genes has a unique characteristics among Chinese patients with Parkinson's disease. They may be related with differences in drug response in such patients.

Asian Continental Ancestry Group ; genetics ; Catechol O-Methyltransferase ; genetics ; Female ; Genotype ; Humans ; Male ; Monoamine Oxidase ; genetics ; Parkinson Disease ; genetics ; Polymorphism, Genetic

Objective To study the inhibitory effect of fluorouracil combined with DDP on the growth of human osteosarcoma cell line MG-63,and to explore its influence on the expressions of transient receptor potential vanilloid 5 (TRPV5 )and transient receptor potential vanilloid 6 (TRPV6 )proteins.Methods The MG-63 cells were cultured by the density of 5 × 104 mL-1 .Fluorouracil group,DDP group,fluorouracil+ DDP group and control group containing 10% FBS were set up.The inhibitory rates of growth of MG-63 cells at different time were detected by CCK-8 assay.The apoptosis of MG-63 cells after treated with different drugs was determined by Hoechst staining Kit.The immunocytochemical staining was used to treatent to detect the expressions of TRPV5 and TRPV6 before and after treatment.Results Fluorouracil and DDP both inhibited the growth of MG-63 cells in a time-and dose- dependent manner.There were a lot of black particles in the MG-63 cells and the cells were smaller,aging or death when they were exposed to fluorouracil or DDP.Compared with 24 h group,the inhibitory rates of proliferation of MG-63 cells after treated with the sigle drug of fluorouracil or DDP for 48 and 72 h were increased significantly (P <0.05).Compared with control group,the apoptotic rates of MG-63 cells in fluorouracil group and DDP group 24,48,and 72 h after treatment were increased (P < 0.01)in a time-dependent manner. The expression levels of TRPV5 and TRPV6 in MG-63 cells 72 h after treatment of fluorouracil and DDP were decreased significantly compared with before treatment (P < 0.05 ). Conclusion Fluorouracil, DDP and fluorouracil combined with DDP could significantly inhibit the proliferation of MG-63 cells,induce the apoptosis, and decrease the expression levels of TRPV5 and TRPV6.

Objective:To prepare and characterize specific and discrepant mouse hybridoma antibodies on membrane of HL60 and HL60/ADR cell lines.Methods:BALB/c mice were immunized by subtractive immunization induced Cp(Cyclophosphamide).McAbs were prepared by hybridoma technique,screened and detected by FACS and LSCM.Results:51 candidates and discrepant antibodies were found,and one of them (5F6) was purified and identified.Conclusion:Combination of SI with discrepant screening method should facilitate the preparing and identifying discrepant McAbs for identifying antibodies that can distinguish the differences in proteins expressed in HL60 and HL60/ADR,which is a significative and potential method in the research and target therapy associated drug-resistance.

In order to characterize the biological activity of fox (Vulpes vulpes) interferon gamma(VuIFN-gamma), We have isolated the cDNA encoding arctic fox (Alopex lagopus) VuIFN-gamma. This cDNA encodes a 23 amino acid signal peptide and a 144 amino acid mature protein, which shares 99.8% or 99.4% for nucleotide identity with silver fox and canine, respectively, and 100% for amino acid identity. Expression of recombinant mature arctic fox interferon gamma (mVuIFN-gamma) in bacterial system was confirmed by SDS-PAGE and Western blotting analysis. Recombinant VuIFN-gamma showed higher antiviral activity against vesicular stomatitis virus in cultured Vero and MDCK by inhibiting virus induced cytopathic effect, In view of the immunomodulatory and antiviral activities of VuIFN-gamma, it may provide a basis for further research on antiviral therapy of recombinant VuIFN-gamma in economic animal practice.
Animals ; Antiviral Agents ; pharmacology ; Base Sequence ; Cloning, Molecular ; Escherichia coli ; genetics ; metabolism ; Foxes ; genetics ; Interferon-gamma ; genetics ; pharmacology ; Molecular Sequence Data ; Recombinant Fusion Proteins ; genetics ; pharmacology