Atualizando e expandindo o universo de: "Uma nova classe de doenças ­ doenças autoinflamatórias" / Updating and expanding the universe of: "A new class of diseases ­ autoinflammatory disorders"

As síndromes autoinflamatórias são doenças raras, genéticas de envolvimento prioritário da imunidade inata. Avanços nas técnicas de sequenciamento genético permitiram dissecar os genes envolvidos nestas doenças, continuamente organizando o quebra-cabeça genético e fisiopatológico de tais desordens. Este artigo revisa os últimos achados genéticos com seus respectivos fenótipos, código OMIM e ORPHA. Além disso, sugere cautela na triagem clínica e na indicação de métodos restritivos de sequenciamentos genéticos.

Autoinflammatory diseases comprise a group of rare, genetic disorders with priority involvement of innate immunity. Advances in genetic sequencing techniques allowed genetic dissection of genes involved in these diseases, with continuous organization of the genetic and pathophysiologic puzzle of these disorders. This article reviews the most recent genetic findings linked to respective phenotypes and OMIM and ORPHA codes. Moreover, it suggests caution in clinical screening and genetic sequencing indication with restrictive genetic panels.

TRAPR: R Package for Statistical Analysis and Visualization of RNA-Seq Data

High-throughput transcriptome sequencing, also known as RNA sequencing (RNA-Seq), is a standard technology for measuring gene expression with unprecedented accuracy. Numerous bioconductor packages have been developed for the statistical analysis of RNA-Seq data. However, these tools focus on specific aspects of the data analysis pipeline, and are difficult to appropriately integrate with one another due to their disparate data structures and processing methods. They also lack visualization methods to confirm the integrity of the data and the process. In this paper, we propose an R-based RNA-Seq analysis pipeline called TRAPR, an integrated tool that facilitates the statistical analysis and visualization of RNA-Seq expression data. TRAPR provides various functions for data management, the filtering of low-quality data, normalization, transformation, statistical analysis, data visualization, and result visualization that allow researchers to build customized analysis pipelines.

The molecular characteristics and virulence factor of Methicillin-resistant Staphylococcus aureus isolatedfrom pediatric patients / 中华传染病杂志

Objective To investigate the molecular characteristic,the virulence factors and antimicrobial resistance of Methicillin-resistant Staphylococcus aureus (MRSA) isolated from pediatric patients.Methods Ninety-eight non-duplicate strains of and 49 non-duplicate strains of Methicillinsusceptible Staphylococcus aureus (MSSA) isolated from the three children's hospitals in Shanghai in 2008 were investigated.Panton-valentine leukocidin (PVL) gene was detected by polymerase chain reaction (PCR).The genotypes of staphylococcal cassette chromosome mec (SCCmec) of the MRSA isolates were confirmed by multiplex PCR.The sequence type (ST) of each strain was determined by multilocus sequence typing (MLST),and the algorithm eBURST was used to identify groups of clonal complex (CC).The minimal inhibitory concentrations (MIC) of fourteen antibiotics for all isolates were determined by agar dilution method.Results Among 98 isolates of MRSA,the positive rate of PVL genes was 6.1％ (6/98).In contrast,the positive rate of PVL genes was 4.1％ (2/48) of the MSSA strains.Among 98 isolates of MRSA,4.1％ (4/98),23.5％ (23/98),53.0％ (52/98) and 15.3％ (15/98) of the strains harboured SCCmec types Ⅱ,Ⅲ,Ⅳ and Ⅴ,respectively. The remaining four isolates (4.1 ％) presented a unique SCCmec pattern that could not be classified to any known types by the employed typing assays.Combining the ST and SCCmec type,the predominant clones were ST59-SCCmec Ⅳ (30 strains) and ST239-SCCmec Ⅲ (23 strains),followed by ST5-SCCmecⅣ and ST1-SCCmecⅣ (8 strains for each clone),ST239-SCCmec Ⅴ (6 strains),ST88-SCCmecⅤ (5 strains),ST5 SCCmecⅡ (4 strains),ST59-SCCmec Ⅴ (3 strains),ST8-SCCmecⅣ and ST88-SCCmecⅣ (2 strains for each clone),ST22-SCCmecⅣ,ST910-SCCmecⅣ and S45-SCCmec Ⅴ (1 strain for each clone),eBURST analysis distributed the MRSA isolates into several CC.ST8 and ST239 belonged to ST8 CC,ST1 belonged to ST15 CC,ST910 belonged to ST 30 CC,ST59,ST5,ST88,ST45,ST22,ST9 and ST7 were the origin of their own CC.The results of MIC showed that the 67 strains of MRSA harboring SCCmec type Ⅳ or SCCmec type Ⅴ were more susceptible to various non-β-lactam antibiotics than 27 strains of MRSA harboring SCCmec type Ⅱ or SCCmec type Ⅲ,and no vancomycin-resistant strain was found.Conclusions In three children's hospitals in Shanghai,the PVL gene-positive rate of MRSA isolates is relatively low,SCCmec type Ⅳ and SCCmec type Ⅴ could spread among hospitals to cause a small scale epidemic and have a variety of ST.

Identification of Mycobacterium tuberculosis complex based on amplification and sequencing of the oxyR pseudogene from stored Ziehl-Neelsen-stained sputum smears in Brazil

A cross-sectional analysis of stored Ziehl-Neelsen (ZN)-stained sputum smear slides (SSS) obtained from two public tuberculosis referral laboratories located in Juiz de Fora, Minas Gerais, was carried out to distinguish Mycobacterium bovis from other members of the Mycobacterium tuberculosis complex (MTC). A two-step approach was used to distinguish M. bovis from other members of MTC: (i) oxyR pseudogene amplification to detect MTC and, subsequently, (ii) allele-specific sequencing based on the polymorphism at position 285 of this gene. The oxyR pseudogene was successfully amplified in 100 of 177 (56.5 percent) SSS available from 99 individuals. No molecular profile of M. bovis was found. Multivariate analysis indicated that acid-fast bacilli (AFB) results and the source laboratory were associated (p < 0.05) with oxyR pseudogene amplification. SSS that were AFB++ SSS showed more oxyR pseudogene amplification than those with AFB0, possibly due to the amount of DNA. One of the two source laboratories presented a greater chance of oxyR pseudogene amplification, suggesting that differences in sputum conservation between laboratories could have influenced the preservation of DNA. This study provides evidence that stored ZN-SSS can be used for the molecular detection of MTC.

Frequency Analysis of NOD2 Gene Mutations in Korean Patients with Crohn's Disease / 대한소화기학회지

BACKGROUND/AIMS: Several studies from Western populations have recently shown that three mutations in NOD2 gene (C2104T, G2722C, and 3020insC) are associated with susceptibility to Crohn's disease (CD). However, three mutations were shown not to be associated with CD in Japanese and Chinese population. Here, we have analyzed the frequency of three NOD2 mutations in Korean patients to determine whether the NOD2 mutations are associated with susceptibility to CD in Korean population. METHODS: Blood samples were obtained from 128 patients with CD, 47 patients with ulcerative colitis, 19 Behcet's colitis, and 200 healthy controls. DNA in the region of three NOD2 mutations was sequenced by single base extension method, and the frequency of mutations were analyzed. RESULTS: Among the subjects in our study groups, including patients with CD, ulcerative colitis, Behcet's colitis, and healthy controls, none had NOD2 mutations. CONCLUSIONS: Our results indicate that although three NOD2 mutations are associated with susceptibility to CD in Western populations, these might be rare and may not be associated with susceptibility to CD in Korean patients.