Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To screen and identify the frequency and characteristic of mutation in stereocilium-related gene Taperin of Chinese prelingual nonsyndromic hearing impairment with DNA microarray combined with PCR.@*METHOD@#One hundred and thirty-four patients of prelingual nonsyndromic deafness and one hundred health individuals in China were investigated in this study. Genomic DNA was extracted from the patients and was subjected to DNA microarray to screen mutations in 4 most common genes. The samples that carried none of the common mutant alleles were subjected to PCR and sequenced to detect mutations in Taperin gene.@*RESULT@#Ninteen out of one hundred and thirty-four patients of prelingual nonsyndromic deafness were detected carring common deafness gene with DNA microarray. Taperin gene were detected in one hundred and fifteen patients with PCR. A187S was detected in Taperin as hetrozygous state in 2 patients and their unaffected members of their family. It occurred at the evolutionary conservation of the amino acids of taperin according to alignment analysis. Two polymorphism, 157C>T and 318C>T, were found in the patients and the control group.@*CONCLUSION@#A novel Taperin mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss, which may be relevant to hearing loss. Two polymorphism, 157C>T and 318C>T, were found in Chinese in our research. The carrier frequency for Taperin mutation is about 1.74% of prelingual nonsyndromic deafness in Chinese patients.

Clinical diagnosis and treatment of nasal sinus mucoceles with visual loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To review the clinical manifestations and management of nasal sinus mucoceles with visual loss.@*METHOD@#Medical records for 23 patients of paranasal sinus mucoceles with visual impairment were re viewed retrospectively during 8-year period (from 2002 to 2010). Ten mucoceles were found in the frontal or fronto-ethmoidal sinuses, 6 in the ethmoidal sinuses, 7 in the sphenoidal or spheno-ethmoidal sinuses. Because the majority of early chief complaints were problems related to vision, patients were often seen by ophthalmologists first. Poor vision was more common in patients with sphenoid or spheno-ethmoidal sinus mucoceles because of their proximity to the optic nerve. CT and MRI were important tools for diagnosing nasal sinus mucocele. The patients received endoscopic surgery to remove mucocele and to decompress the optic nerve. Steroid therapy was given postoperatively and routine examination with endoscopy were carried out during follow-up.@*RESULT@#Postoperatively, the majority of symptoms, such as exophthalmos, epiphora, diplopia and headache, disappeared in all patients. However, vision recovery was observed only in some patients. Recovery of vision depended on the timing of surgery and severity of initial visual loss. Delay in treatment can seriously compromise recovery of vision impairment. Moreover, patients without light perception before surgery had poor visual recovery even if optic nerve decompressions were performed.@*CONCLUSION@#Endoscopic surgery is effective to nasal sinus mucocele with visual loss. Because visual recovery depends on prompt diagnosis and surgical intervention, a good understanding of the disease and prompt imaging studies are important.