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 study the clinical characteristics,prognosis and drug resistance caused by the non fermenting bacteria in the infants,and to provide reference for the doctors to recognize the infection features and its treatment.Methods:A total of 91 cases of non-fermentative bacteria infection were selected and the clinical materials were retrospectively analyzed.The clinical data and prognosis of the pediatric patients were analyzed,as well as the distribution and drug resistance of non-fermentative bacteria.The bacterial resistance genes were detected by PCR method,and the positive results were analyzed by gene sequencing.Results:In the past 5 years,the nonfermentative bacteria strains were isolated in 91 infant patients,including 35 cases of newborn (19 cases were premature infants),29 cases aged less than 1 year old,27 cases aged from 0 year to 3 years old.Among these patients,60 were male and 31 were female.There were 41 cases with underlying diseases (45.05 ％),16 cases with organ dysfunction (17.58％),3 cases discharged automatically (3.29 ％),and 1 case dead (1.09 ％).A total of 102 strains of non-fermentative bacteria included 42 strains of Pseudomonas aeruginosa,33 strains of Acinetobacter baumannii,21 strains of Stenotrophomonas maltophilia and 6 strains of other non-fermentative bacteria.Forty-four strains were isolated from neonatal ward,33 strains (32.35％) from neonatal ICU (43.13 ％),25 strains (24.50％) were isolated from general pediatric ward.These strains were mainly from respiratory tract secretions and blood samples,nearly 84.31％.The isolation rates of MDR,XDR,PDR Acinetobacter baumannii and Pseudomonas aeruginosa were 63.63％ and 19.04％,respectively.There were 40.48％ of Pseudomonas aeruginosa isolates were resistant to imipenem,blaPER had the highest positive gene rate (28.57％).There were 36.36％ of Acinetobacter baumannii isolates were resistant to imipenem,all resistant strains carried blaOXA-51 and blaOXA-23 genes.Conclusion:The infants with underlying diseases or invasive diagnosis and treatment are easy to infect non fermentative bacteria.Most strains of them are drug-resistant and difficult to be treated with long duration and high risk.

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*

Sepsis is a clinical syndrome manifested by organ dysfunction due to disordered inflammatory response after severe infection.The occurrence, development and prognosis of sepsis are closely related to the immune regulation of the body.The essence of sepsis is that the state of excessive proinflammatory response in the early stage gradually progresses to the state of immunosuppression in the late stage, which leads to the body′s inability to resist inflammation and endangers life.As a highly conserved signaling pathway, Notch pathway has the ability to regulate cell growth and differentiation, and participates in the occurrence and development of various inflammatory diseases.In recent years, the important role of Notch signaling pathway in the occurrence and development of sepsis has attracted extensive attention.This article mainly reviews the role of Notch signaling pathway in immune regulation of sepsis.

Mycobacterium tuberculosis(Mtb)is an intracellular bacteria that lives in the phagocytosis of host macrophages.After it invades the human body, it can cause a series of immune responses.Part of Mtb can be eliminated by the body′s immune function; some of them can survive by the immune escape mechanism and cause latent tuberculosis infection(LTBI)or tuberculosis(TB). Exosomes are extracellular vesicles with a diameter of 30-100 nm that are secreted by living cells.They are rich in proteins, lipids and nucleic acids, and exist in many body fluids of the human body.During Mtb infection, the components of exosomes released by the body can change significantly, and they can play an important role in the body′s infection and immune response, providing new ideas and theoretical basis for the prevention, diagnosis and treatment of tuberculosis infection.This article reviews the role and application value of exosomes in Mtb infection.

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.

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