Research progress on pathogenic genes of familial exudative vitreoretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#Familial exudative vitreoretinopathy(FEVR)is a severe clinically and genetically heterogeneous retinal disease which characterized by abnormal development of the peripheral retinal vessels. FEVR presents many clinical phenotypes, the main and typical feature is retinal folds. There are various inheritance modes with high genetic heterogeneity of FEVR including autosomal recessive, X-recessive, autosomal dominant recessive, and other scattered inheritance modes. So far, nine FEVR pathogenic genes have been reported: NDP, FZD4, LRP5, CTNNA1, TSPAN12, ZNF408, KIF11, CTNNB1, and JAG1 genes. These genes are mainly involved in signaling pathways such as Wnt, Notch, and Norrin-β-catenin. This article reviews the above nine FEVR pathogenic genes and their signaling pathways.

A bioinformatics approach revealed the transcription factors of Helicobacter pylori pathogenic genes and their regulatory network nodes

BACKGROUND: Helicobacter pylori is a chronic pathogenic bacteria that causes gastric mucosal damage through various host-related and pathogen-related factors. Thus, a single gene research cannot fully explain its pathogenicity. PURPOSE OF STUDY: It is necessary to establish a Helicobacter pylori pathogenic gene transcription factor regulatory network (TFRN) and study its central nodes. RESULTS: The expression data of Helicobacter pylori pathogenic genes were obtained through GEO Datasets of NCBI. The genes were screened using linear model-empirical Bayesian statistics in R language Limma package combined with the conventional t-test; the results identified 1231 differentially expressed genes. The functional analysis (gene ontology-analysis) and signal pathway analysis (pathway-analysis) of differentially expressed genes were performed using the DAVID and KEGG databases, respectively. The pathogenic gene regulatory network was constructed by integrating transcriptional regulatory element database (TRED); the disease-related analysis of the pathogenic genes was conducted using the DAVID annotation tool. Five pathogenic genes (Nos2, Il5, Colla1, Tnf, and Nfkb1) and their transcription factors (Jun, Cebpa, Egrl, Ppara, and Il6) were found to suppress the host immune function and enhance the pathogenicity of Helicobacter pylori by regulating the host immune system. CONCLUSIONS: This effect was largely mediated via three signaling pathways: Tnf pathway, PI3K Akt pathway, and Jak­STAT pathway. The pathogenicity of Helicobacter pylori is closely related to the body's immune and inflammatory system. A better understanding of the correlation of the pathogenic factors with the host immune and inflammatory factors may help to determine the precise pathogenic mechanism of H. pylori infection.

Research progress on pathogenic genes and molecular mechanisms of nonsyndromic tooth agenesis / 口腔疾病防治

@#Tooth agenesis is a common tooth number deficiency that occurs in the tooth-forming process or earlier period of tooth germ development and has a serious impact on the maxillofacial development, aesthetics and masticatory function of patients. According to the presence or absence of systemic symptoms, tooth agenesis can be divided into syndromic tooth agenesis and nonsyndromic tooth agenesis. In recent years, the discovery of new related genes, new mutation sites and related molecular mechanisms has become a major direction of gene research. This article will review the current research progress of the signaling pathways related to nonsyndromic tooth agenesis, such as the WNT/beta-catenin pathway, TGF-β/BMP pathway, PAX9, MSX1, and the EDA/EDAR/NF-κb pathway, and their molecular mechanisms. The interaction between Pax9 activating the Wnt/β-catenin and TGF-β/BMP pathways, MSX1 activating the TGF-β/BMP pathway, and Wnt activating the EDA/EDAR/NF-κb pathway was also found, which provides a new theoretical basis for the prevention and treatment of tooth agenesis. The molecular mechanism of nonsyndromic tooth agenesis is rarely studied; thus, the exploration of its mechanism will become one of the main research directions in the future.

Advances in familial glucocorticoid deficiency / 国际儿科学杂志

Familial glucocorticoid deficiency (FGD) known as one of primary congenital adrenal hypoplasia diseases,is a rare autosomal recessive disorder.FGD is characterised by isolated glucocorticoid deficiency,therefore the patients exhibit low serum cortisol and high plasma adrenocorticotropic hormone levels.The patients typically present with hypoglycemia,recurrent infections,hyperpigrnentation and tall stature.Much research on the pathogenic genes and molecular biology mechanisms have been performed,and presently some pathogenic genes have been discovered.In order to enhance the clinicians'understanding of familial glucocorticoid deficiency,this review focuses on the pathogenic genes,pathogenesis,diagnosis and treatments of the disease.

Preliminary research on gene mutation in 10 children patients with esophageal atresia / 国际检验医学杂志

Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .

Antibiotic resistance and pathogenicity factors in Staphylococcus aureus isolated from mastitic Sahiwal cattle.

Methicillin-resistant Staphylococcus aureus (MRSA) poses a serious problem in dairy animals suffering from mastitis. In the present study, the distribution of mastitic MRSA and antibiotic resistance was studied in 107 strains of S. aureus isolated from milk samples from 195 infected udders. The characterizations pathogenic factors (adhesin and toxin genes) and antibiotic susceptibility of isolates were carried out using gene amplification and disc diffusion assays, respectively. A high prevalence of MRSA was observed in the tested isolates (13.1%). The isolates were also highly resistant to antibiotics, i.e. 36.4% were resistant to streptomycin, 33.6% to oxytetracycline, 29.9% to gentamicin and 26.2% each to chloramphenicol, pristinomycin and ciprofloxacin. A significant variation in the expression of pathogenic factors (Ig, coa and clf) was observed in these isolates. The overall distribution of adhesin genes ebp, fib, bbp, fnbB, cap5, cap8, map and cna in the isolates was found to be 69.1, 67.2, 6.5, 20.5, 60.7, 26.1, 81.3 and 8.4%, respectively. The presence of fib, fnbB, bbp and map genes was considerably greater in MRSA than in methicillin-susceptible S. aureus (MSSA) isolates. The proportions of toxin genes, namely, hlb, seb, sec, sed, seg and sei, in the isolates were found to be 94.3, 0.9, 8.4, 0.9, 10.2 and 49.5%, respectively. The proportions of agr genes I, II, III and IV were found to be 39.2, 27.1, 21.5 and 12.1%, respectively. A few isolates showed similar antibiotic-resistance patterns, which could be due to identical strains or the dissemination of the same strains among animals. These findings can be utilized in mastitis treatment programmes and antimicrobials strategies in organized herds.