Risk factors of multiple-drug-resistant bacterial infection in lower respiratory tract of patients with acute stroke / 中国生化药物杂志

Objective To investigate the acute stroke patients with lower respiratory tract of multi drug resistant bacteria(MDR) infection risk factors.Methods The clinical data of 170 patients with acute stroke were retrospectively analyzed from January 2013 to December 2015.The MDR infection was divided into MDR infection group and non-MDR infection group.example.Univariate analysis and multivariate logistic regression analysis were used to analyze the risk factors of MDR infection in patients with acute stroke.Results Univariate analysis: The relationship between COPD, coma, cerebral hemorrhage, cough, cough reflex, tracheal intubation, indwelling catheter, indwelling gastric tube, and combination of two or more antibiotics was more than 5 days and MDR infection(P<0.05).Multivariate logistic regression analysis: COPD, coma, tracheal intubation, cerebral hemorrhage, two or more antibiotics prophylactic use is an independent risk factor for MDR infection.Conclusion The acute stroke patients with lower respiratory tract infection in patients with MDR factors and iatrogenic factors, combined with COPD, coma, tracheal intubation, cerebral hemorrhage, irrational use of antibiotics are independent risk factors for its occurrence.

A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the genetic etiology in a Chinese patient with neurofibromatosis type 1 (NF-1).</p><p><b>METHODS</b>All coding exons and the flanking sequences of neurofibromin 1 (NF1) gene from the patient were captured, individually barcoded and subjected to HiSeq2000 high-throughput sequencing. Suspected mutation was validated in the nuclear family members with Sanger sequencing.</p><p><b>RESULTS</b>A novel indel mutation, c.789_790delAGinsT, was identified in the exon 8 of the NF1 gene in the patient but not in her asymptomatic parents. The mutation was predicted to have caused shifting of the reading frame and a premature downstream stop codon (p.K263Nfs*18). Two known polymorphisms, c.888+108 C>T (rs2953000) and c.888+118 G>T (rs2952999), was detected in the flanking of the indel mutation in the patient and her father. Sequencing chromatogram for the family indicates that above changes are located on the same chromosome.</p><p><b>CONCLUSION</b>The c.789_790delAGinsT, as a de novo mutation occurring on the paternally derived chromosome, is most likely to be causative for the disease. Compared with Sanger sequencing, targeted next-generation sequencing is more efficient and can dramatically reduce the cost for the genetic testing of NF-1.</p>