Objective To explore humidifying effects for artificial airway of mechanically ventilated patients by heat/moisture exchanger(HME) combined closed endotracheal suctioning(CS).Methods A total of 114 patients who had mechanical ventilation for at least 48h were randomly divided into two groups with 59 cases in experimental grooup and 55 cases in control group.HME combined CS were used in the experimental group,heated humidifier combined open endotracheal suctioning were used in the control group.The effect of humidification, the reserved time of artificial airway,the time on mechanical ventilation, the time of stay in ICU, the incidence of ventilator-associated pneumonia(VAP) and the mortality rate between the two groups were compared.Results Significant differences were found in the effect of humidification between the experimental group and the control group,more cases found insufficiency of humidification or excessive humidification and airway spasm in the control group, however,less time on mechanical ventilation and stay in ICU in the experimental group.The incidence of VAP in the control group was significantly higher than that in the experimental group.There were no significant differences existed in the reserved time of artificial airway and the mortality rate between the two groups.There were no accident of humidification occurred in the experimental group,while 8 cases complicated with choking with water in the control group.Condusion HME combined CS,used in mechanically ventilated patients ,could help to improve the effects of airway humidification and reduce the incidence of VAP,also shorten the duration of mechanical ventilation.

OBJECTIVE: To investigate the molecular genetic mechanism of Charcot- Marie-Tooth (CMT) disease in a pedigree. METHODS: Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened using target exon capture and the next generation sequencing, and the suspicious genes were verified using Sanger sequencing. PolyPhen-2, PROVEAN and SIFT software were used to predict the function of the mutant genes, and PyMOL-1 software was used to simulate the mutant protein structure. RESULTS: A heterozygous missense mutation [c.371A>G (p.Y124C)] was detected in exon 3 of gene of the proband. This heterozygous mutation was also detected in both the proband's mother and her brother, but not in her father. Multiple sequence alignment analysis showed that tyrosine at codon 124 of GDAP1 protein was highly conserved. All the 3 prediction software predicted that the mutation was harmful. Molecular structure simulation showed a weakened interaction force between the amino acid residues at codon 124 and the surrounding amino acid residues to affect the overall stability of the protein. CONCLUSIONS The mutation of gene may be related to the pathogenesis of autosomal dominant AD-CMT in this pedigree. The newly discovered c.371A>G mutation (p.Y124C) expands the mutation spectrum of gene, but further study is needed to clarify the underlying pathogenesis.
Amino Acids ; Charcot-Marie-Tooth Disease ; genetics ; Female ; Genes, Dominant ; genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Male ; Mutation, Missense ; Nerve Tissue Proteins ; genetics ; Pedigree ; Software