ABSTRACT
OBJECTIVE To analyze for mutations of the PDS gene in patients with sensorineural hearing loss associated with enlarged vestibular aqueduct and analyze the molecular pathogenesis of enlarged vestibular aqueducts. METHODS Eighteen sporadic cases of large vestibular aqueduct syndrome and twelve control individuals with normal hearing were included in this study. Exons 6 and 9 of the PDS gene in all subjects were amplified by polymerase chain reaction and analyzed by direct DNA sequencing. RESULTS Analysis revealed 2 single base changes in exon 6 of one patient with large vestibular aqueduct syndrome. One was a G→C transversion at nucleotide position 611, and the other was a T→G transversion at nucleotide position 612, resulting in a predicted Gly→Ala substitution at position 204. No mutation in exons 6 and 9 of the PDS gene was found in the PDS gene of the control individuals. CONCLUSION Mutations of the PDS gene are responsible for the large vestibular aqueduct syndrome. Analysis of the PDS leftover sequence in patients with large vestibular aqueduct syndrome is the next step in elucidating the complicated causes of this disease.
ABSTRACT
AIM: To build an allergic rhinitis model to evaluate the effect of budesonide on the eosinophils and histamine in nasal mucosa in allergic rhinitis guinea pig.METHODS: 33 guinea pigs were randomly divided into three groups: natural controlled group,allergic rhinitis(AR) group and budesonide treatment group.Allergic rhinitis model in guinea pigs were built by using toluene-2,4-disocyanate(TDI) nasal immunization and challenge.The indexes of clinical symptoms,pathomorphological diagnosis and content of histamine in mucosa were used to evaluate the potency of budesonide when used to treat allergic rhinitis.RESULTS: The expression of eosinophils and the content of histamine in nasal mucosa in AR group both were significantly higher than that of in natural controlled group(respectively,P(0.05)).CONCLUSION: Budesonide could effectively reduce the expression of eosinophils and content of histamine in nasal mucosa,but it is invalid in releasing the symptoms of AR in guinea pig.The reason of this phenomenon may be concerned with the method of model building.
ABSTRACT
Objective:To study the expression and significance of transforming growth factor-β1 (TGF-β1) in nasal polyps.Method:Expression of TGF-β1 in nasal polyps from 34 patients and middle turbinates from 30 patients with deviation of nasal septum were prospectively studied with immunohistochemistry.Each tissue section was observed under optical microscope.Result:①The TGF-β1 positivity in extracellular matrix and in cells in the stroma was significantly higher in nasal polyps than in middle turbinates (P＜0.01).②The distribution and shape of TGF-β1 expressing cells in nasal polyps was similar to that of eosinophil,their positivities were significantly correlative (P＜0.05).③The positivity of TGF-β1 did not correlate with clinical type of nasal polyps (P＞0.05),eosinophil infiltration correlated significantly with clinical type of nasal polyps(P＜0.05).Conclusion:①The TGF-β1 may contribute to some of the pathologic changes observed in nasal polyps,such as thickening of the epithelial basement membrane and stromal fibrosis.②Eosinophils in nasal polyps represent a major source of TGF-β1.③Eosinophils infiltration may play a prominent role in the development and recurrence of nasal polyps.