ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.</p><p><b>METHODS</b>Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene.</p><p><b>RESULTS</b>The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i.e., IVS37-1G>C/c.2729_2731delC (p.R911Afs916X), was discovered in the patient. The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously.</p><p><b>CONCLUSION</b>Based on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.</p>
Subject(s)
Female , Humans , Infant , Male , Family , Genetic Testing , Methods , Genotype , Malabsorption Syndromes , Genetics , Microvilli , Genetics , Pathology , Mucolipidoses , Genetics , Mutation , Genetics , Myosin Heavy Chains , Genetics , Myosin Type V , Genetics , PhenotypeABSTRACT
Objective To investigate the effect of dexmedetomidine on the intubation reaction during intratracheal intubation in the patients in the emergency department .Methods Fifty adult patients needing emergent tracheal intubation in the emergency de-partment of this hospital were divided into the dexmedetomidine group and the middazolam group ,25 cases in each group .The dexmedetomidine group was given dexmedetomidine(1 μg/kg) before tracheal intubation and the midazolam group was given mid-azolam(0 .1 mg/kg) before tracheal intubation .Results BP and HR during tracheal intubation ,at 1 ,3 min after tracheal intubation in the dexmedetomidine group were significantly decreased compared with the midazolam group (P0 .05);SpO2 at 1 min before tracheal intubation and during tracheal intubation in the middazolam group was decreased ,which showed the statistical difference compared with before drug administration (P<0 .05) .Conclusion Dexme-detomidine is more effective than midazolam in alleviating cardiovascular responses during intratracheal intubation ,moreover has no influence on the patient′s respiratory function .