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Clinnical Observation On The Treatment Of Refractory Maxillary Sinus Lesions Patients Who Received Modified Enlargement Operation Of Apertura Maxillaris Under Functional Nasal Endoscopic

Posted on:2018-09-24Degree:MasterType:Thesis
Country:ChinaCandidate:Y CaoFull Text:PDF
GTID:2334330518483620Subject:Otorhinolaryngology
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Objectives:To understand the non-syndromic hearing loss in Yunnan region patients hot genes,mutation site methods and mutation site frequency.For deaf people in Yunnan region and deaf disease prevention,diagnosis,treatment and rehabilitation provides the theory basis.So that they can help clinicians to diagnose the cause of deafness,identify various deafness,guide the rehabilitation,give antenatal instructions and diagnosis,give genetic counseling and guidance,and set up prevention plans.Methods:Collected from July 2015 to December 2016 from the first affiliated hospital of Kunming Medical University and children's hospital of Kunming outpatient service non-syndromic hearing loss patients 279 cases and 113 cases of immediate family members' the peripheral blood.After patients or guardians signing the informed consent,peripheral venous blood were extracted and genomic DNA were detected.We use DNA sequencing technology,detecting the four hot genes of deafness,including GJB2 gene,SLC26A4 gene,GJB3 gene and mitochondrial 12S rRNA gene with 21 mutations.At the same time,record the patient's general condition,the onset time,whether talking before onset,the progress of the disease,associated symptoms,personal history,history of ototoxic drugs using and mother pregnancy,production,infectious diseases and so on.All the research object should do otology examinations and the full set of hearing tests.At the same time,the 279 cases of deafness patients also need to do imaging examination.Results:In 279 non-syndromic hearing loss patients 91cases were detect gene mutations 32.62%(91/279),of which '63 cases showed GJB2 gene mutations 22.58%(63/279).235del C heterozygous mutations,235del C homozygous mutations,176-191del 16 heterozygous mutations,299-300del AT heterozygous mutations,176-191del 16 and 235del C compound heterozygous mutations,235del C and 299-300del AT compound heterozygous mutations,235del C and 508-511dup AACG compound heterozygous mutations detection rate respectively is 8.96%(25/279)?6.45%(18/279)?1.79%(5/279).2.87%(8/279).0.72%(2/279).1.08%(3/279)?0.72%(2/279).SLC26A4 gene mutations is 28 cases 32.62%(91/279).919-2 A>G(common name IVS7-2 A>G)heterozygous mutations,919-2 A>G(common name IVS7-2 A>G)homozygous mutations,2168 A>G heterozygous mutations,1174 A>G heterozygous mutations,2168 A>G and 919-2 A>G compound heterozygous mutations detection rate respectively is 4.66%(13/279)?1.08%(3/279)?1.79%(5/279)?1.79%(5/279)?0/72%(2/279).10 cases in 113 immediate families of deafness gene mutation carriers were checked out 8.85.%(10/113),of which 7 cases showed GJB2 gene mutations 6.19%(7/113).235 del C heterozygous mutations,176-191 del 16 heterozygous mutations,299-300del AT heterozygous mutations detection rate respectively is 5.31%(6/113),not detected,0.88%(1/113).SLC26A4 gene mutations is 3 cases 2.65%(3/113).919-2 A>G(common name IVS7-2 A>G)heterozygous mutations,2168 A>G heterozygous mutations,1174 A>G heterozygous mutations detection rate respectively is 0.88%(1/113),0.88%(1/113),0.88%(1/113).Conclusions:The deafness gene mutations in 279 patients with the non-syndrome type deafness in Yunnan region is 32.62%(91/279).GJB2 gene and SLC26A4 gene mutation rate is slightly lower than the national level,while GJB3 gene and mitochondria 12S rRNA gene mutation is not checked out.The 113 immediate families were detected deafness gene mutation rate is 8.85%(10/113),GJB2 gene and SLC26A4 gene mutation rate is higher than the national normal people carrying rate,GJB3 genes and mitochondria 12S rRNA gene mutation is also not checked out.
Keywords/Search Tags:Non-syndromic hearing loss(NSHL), Deafness gene, Mutation
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