Objective To evaluate the clinical application value of anti cyclic citrullinated peptide antibody(CCP) by immune tur‐bidity method for the the diagnosis of rheumatoid arthritis (RA) .Methods The serum of 195 cases of RA patients ,105 cases of os‐teoarthritis ,52 cases of osteoporosis ,42 cases of connective tissue ,40 patients with systemic lupus erythematosus ,305 cases of pa‐tients with other diseases and 90 cases of healthy controls were collected ,the CCP were detected by latex CMIA and ELISA . Results The CCP positive were 141 cases in RA(72 .30% ) ,54 cases(51 .42% ) in arthritis ,15 cases in osteoporosis (28 .84% ) ,15 cases in connective tissue(35 .71% ) ,18 cases (45 .0% ) in systemic lupus erythematosus (SLE) ,11 cases (3 .60% ) in other disea‐ses .There were negative in 90 cases of healthy controls .The variation coefficient was 1 .9% -2 .0% ,and the total coefficient of var‐iation was 2 .0% -2 .1% .The linear range of Latex method was divided into 0 .8-100 U/mL .There were no diffrence in the sensi‐tivity and specificity of detection to CCP by CMIA ,ELISA and Latex .Conclusion The sensitivity and specificity of detection to CCP by Latex was good ,and there was wide linear range .

Objective To develop a suitable solid-phase extraction(SPE)method for the further purification of the test solu- tion in suppositories of Chinese medicinal materials which are made of lipid soluble bases,and to detect the residues of 20 kinds of organochlorine pesticides(OCPs).Methods Different kinds of SPE columns were selected and several elution solvents were used for the purification of the sample of herbal medicine of Huazhi Shuan,and then the residue contents of OCPs were determined by GC-ECD method.Twenty kinds of OCPs were added into the samples and the efficacy of the methods were eval- uated by the obtained recoveries.Results The recoveries of the 20 kinds of OCPs being detected were basically comply with the requirements for the analysis of pestiside residues.Conclusion After the tested solution is obtained from GPC column and is further purified through florisil SPE column,the impurity can be removed and the high accuracy of the quantitative analysis of the compounds can be achieved.

Objective To develop a suitable extraction and purification method for detecting the residue of 20 kinds of organochlorine pesticides(OCPs) in suppositories of Chinese medicinal materials which are made of fat-soluble bases.Methods Different methods were applied for the extraction, and GPC was used for the purification of the sample Huazhi Shuan, and then the residue contents of OCPs were determined by GC- ECD method.20 kinds of OCPs were added to the samples and the feasibilities of the methods were evaluated by the obtained recovery. The established method were used in the analysis of the residue of OCPs in other Chinese herbal suppositories.Results The recovery and the reproducibility of this method met the requirements for the analysis of pesticides residues. Conclusion This developed method may provide reference for the detection of organochlorine pesticides residue in these kinds of Chinese medicinal preparations.

Objective To study antimicrobial resistance of clinically isolated Escherichia coli (E.coli),the preva-lence of integrons in E.coli,and relation of integron with antimicrobial resistance of E.coli.Methods E.coli isola-ted from three hospitals of Guangdong Province from 2010 to 2012 were collected,and antimicrobial susceptibility testing was performed by Kirby-Bauer method;integrons were detected by polymerase chain reaction (PCR),and gene cassette was analyzed by sequencing.Results A total of 156 E.coli isolates were collected,antimicrobial sus-ceptibility testing showed that resistance rate of E.coli to most penicillins,cephalosporins,fluoroquinolones,amin-oglycosides and sulfonamides were over 50%;the resistance rate to antimicrobials < 10% included cefoperazone/sulbactam(0),imipenem(3.85%),cefotetan(4.35%),ertapenem(7.69%)and piperacillin /tazobactam (8.97%);The positive rate of class I integron was 57.69%(90/156);the positive rate of class I integron in multidrug-resist-ant and non-multidrug-resistant E.coli was 66.00% (66/100)and 64.71 % (22/34)respectively,the difference was not statistically different (P >0.05),but compared with sensitive E.coli (9.09%,2/22),the difference was statisti-cally different (P<0.01 ).There were nine types of integron-drug resistant gene cassettes in the variable regions, most of which contained aadA and dfrA.Conclusion Antimicrobial resistance of E.coli is serious;high incidence of class I integrons are widely found in E.coli,and is closely related with drug resistance of E.coli,class I integrons mainly mediated aminoglycosides,sulfonamides and beta-lactams resistance.

OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS). METHODS: Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review. RESULTS: The child has featured peculiar facies, accompanied by autism spectrum disorder, intellectual disability and motor retardation, and curving of the second toes, which was unreported previously. Genetic testing revealed that the child has harbored a heterozygous c.2157C>G (p.Tyr719*) variant of the ADNP gene, which was not found in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, this variant was rated as pathogenic. Among 80 HVDAS cases described in the literature, most had various degrees of behavioral abnormalities, intellectual disability, language retardation and motor retardation, with common features involving the nervous system, gastrointestinal system and eye. Variants of the ADNP gene mainly included frameshift variants and nonsense variants, with the hotspot variants including p.Tyr719*, p.Asn832lysfs*81 and p.Arg730*. CONCLUSION The clinical phenotype of the child is closely correlated with the heterozygous variant of the ADNP gene, which expanded the phenotypic spectrum of HVDAS. As HVDAS may involve multiple systems and have high phenotypic heterogeneity, genetic testing technology can facilitate accurately diagnose.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases/complications*

OBJECTIVE: To explore the genetic basis of a child with recurrent infection, multiple malformation and dysmorphism. METHODS: The child and his parents were subjected to trio whole exome sequencing. RESULTS: The child had a complaint of fever and cough, with long and thin eye fissures and long eyelashes. Genetic testing revealed that the child has carried a non-triplet deletion of the KDM6A gene, which was unreported previously. The variant resulted in frameshift and premature termination of the translation. His parents were both of the wild type for the locus. After antibiotic and immunoglobulin treatment, the severe secondary pneumonia caused by immunodeficiency has improved. CONCLUSION With combined laboratory test, imaging examination and genetic testing, the child was ultimately diagnosed with Kabuki syndrome type 2. The characteristics of immunodeficiency of Kabuki syndrome may render conventional antibiotic treatment ineffective, which deserves clinical attention.
Abnormalities, Multiple ; Child ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Genetic Testing ; Hematologic Diseases ; Histone Demethylases/genetics* ; Humans ; Neoplasm Proteins/genetics* ; Nuclear Proteins/genetics* ; Phenotype ; Pneumonia ; Vestibular Diseases

Acute necrotizing encephalopathy (ANE) is a rare but deadly complication with an unclear pathogenesis. We aimed to elucidate the immune characteristics of H1N1 influenza virusassociated ANE (IANE) and provide a potential therapeutic approach for IANE. Seven pediatric cases from a concentrated outbreak of H1N1 influenza were included in this study. The patients’ CD4+T cells from peripheral blood decreased sharply in number but highly expressed Eomesodermin (Eomes), CD69 and PD-1, companied with extremely high levels of IL-6, IL-8 in the cerebrospinal fluid and plasma. Patient 2, who showed high fever and seizures and was admitted to the hospital very early in the disease course, received intravenous tocilizumab and subsequently showed a reduction in temperature and a stable conscious state 24 h later. In conclusion, a proinflammatory cytokine storm associated with activated CD4+T cells may cause severe brain pathology in IANE. Tocilizumab may be helpful in treating IANE.

ObjectiveTo analyze the epidemiological characteristics and trends of influenza‑like illness (ILI) in Jiading District from 2013 to 2023, to explore the prevalence patterns, so as to provide a scientific basis for a better prevention and control of influenza. MethodsData of ILI cases, pathogenetic surveillance results and pathogen detection data from influenza surveillance network laboratories in Jiading District from 2013 to 2023 were collected for statistical analysis. ResultsFrom 2013 to 2023, the overall proportion of medical visits for ILI cases in Jiading District was 2.70%. ILI cases were mainly distributed in the age group of ≥25 years, with a seasonal prevalence characteristic, mainly concentrated in the winter and spring, with an occasional small peak in the summer. A total of 12 423 specimens were tested for pathogenetic surveillance and monitoring, 3 651 of which were tested positive for nucleic acid detection, with a positive rate of 29.39%. The dominant strain was influenza A (H3N2) virus, accounting for 55.05%. There were statistical significant differences in the positive detection rates by different streets and townships(χ²=24.73，P<0.05）. The influenza network laboratory isolated and cultured influenza viruses from 3 154 nucleic acid‑positive samples sent by national influenza sentinel surveillance hospitals using 2 methodsMadin‑Darby canine kidney (MDCK) cells and specific pathogen free (SPF) chicken embryos, respectively, with a total isolation rate of 39.51%, and the isolation rate of MDCK cells (35.45%) was higher than that of SPF chicken embryos (5.36%). From 2013 to 2023, a total of 14 ILI outbreaks were reported in Jiading District, mainly in primary schools, kindergartens and secondary schools. ConclusionInfluenza in Jiading District, Shanghai, is mainly prevalent in the winter and spring, with different subtypes of influenza viruses alternating or co⁃circulating in different monitoring year. It is recommended to promote influenza vaccination, further improve influenza prevention and control measures, enhance health promotion to the age group of ≥25 years in winter and spring, and strengthen surveillance and monitoring on ILI outbreaks in collective units such as primary schools and childcare institutions, so as to reduce the disease burden.