简介:Aim:Toassessthequalityofhigh-resolutionCTsectionplanes(HRCT),multi-planarreformation(MPR)and3-dimensionalvolumerenderedcomputertomography(3D-CTVR)werehereusedinthefinedifferentialdiagnosisofossicularchaininthecaseofconductivehearinglosswithintacttympanicmembrane.Methods:Here,17casesofotosclerosisand22casesofossicularchaindeformitywereselected.Allpatientshadnormalexternalearcanals,intacttympanicmembranes,conductivehearingloss,typeAtympanograms,andnegativeGelle'stests.Therespectiveradiologicalreportsofthestatusoftheossiclesvia3protocolswerecomparedtosurgicalfindings.Thequantitativeassessmentsoftherepresentationofdifferentsegmentsoftheossicularchainwerebasedona3-pointscoringsystem.Results:MPRandCTVRimagingbothshowedtheintegrityofwholeossicularchainwell.MPRandCTVRimagingwerefoundtobesuperiortosectionplaneswithrespecttoshowingthesuperstructureofthestapesandmalformations(P>0.05).Conclusion:CTVRandMPRimagingwerefoundtobebetterabletoshowthewholeossicularchainintheconductivehearinglosswithnormaltympanicmembranes.Furthermore,theuseofthesetechniquescanhaveprofoundcontributivevalueinthedifferentialdiagnosisofotosclerosisandossicularchainabsenceormalformation.
简介:Objective:Toinvestigateimmune-relatedgeneticbackgroundinbilateralsuddensensorineuralhearingloss(SSNHL).Casereportandmethods:Thecaseisa45-year-oldmanpresentingwitha7-yearhistoryofbilateralprofoundSSNHL.Bloodbiochemicaltestingdemonstratedincreasedlevelsoftotalcholesterol(5.88mmol/L).TestsforhepatitisBshowedapositiveantibodyagainstthehepatitisBcoreantigen.ComplementC3wasbelowthenormalvalue,andcomplementC4andIgGwereinthelowerrangeofnormalvalues.CTimagesshowedanormalinnerearandvestibularaqueductbutroundwindowmembranousossificationonbothsides.Atotalnumberof232immuneassociatedgenesweresequencedusingthenextgenerationsequencingtechnique.Results:Mutationsweredetectedin5genes,includingthephosphoinositide3-kinasecatalyticsubunitdelta(PIK3CD),caspaserecruitmentdomain-containingprotein9(CARD9),complementfactorH-related(CFHR2),immunoglobulinlambda-likepolypeptide1Protein(IGLL1),andtransmembranechannel-likegenefamily8(TMC8).InthePIK3CDgene,aC896Tsubstituteinexon7wasdetected.Thismutationcausesprimaryimmunodeficiencyandisanautosomaldominantdisease.Conclusion:ThePIK3CDC896TmutationresponsibleforprimaryimmunodeficiencymaycontributetotheonsetofbilateralSSNHLwithsubsequentrapidprogression.
简介:ObjectiveToestablishalymphocytelinecapableoflongsurvivalandexpressinghumanNT-3tolayafoundationforfutureanimalandhumancochleargenetransfectionresearch.MethodsWecollectedlymphocytesfromnormalhumanbloodviaFicollfluidandaddedIL-2intotheserumculturemediumtopromotelymphocytegrowth.TheNT3cDNAwasobtainedbyRT-PCRandligatedwiththeeukaryonvectorwhichispIRES-DsRed2usingT4DNAenzyme.TheNT3cDNAgenewastransfectedintothelymphocytelineusingcationicliposome(LP2000).ThelymphocytestransfectedwithNT3-cDNAwereexaminedbyRT-PCRandWestern-blotmethods.ResultsWeestablishedanewmethodtoextendinvitrolymphocytessurvivaltimeandtotransfectNT3intolymphocytes.Thegeneticallyengineeredlymphocyteswerecapableofsurvivingoverrelativelylongtime.PositiveproteinsignalswereobtainedbyWesternblot.ConclusionsUsinglymphocytesastheintermediary,recombinedplasmidpIRES-DsRed2NT3isusedtoestablishalymphocytelinethatexpressesandsecretesNT3.Thiscelllinecanbeusedinfutureanimalgenecochleartransfectionresearchandmayhelpfindanintermediarycelllineforgenetherapyforhumandeafness.
简介:目的对云南3所特殊教育学校聋生人群进行系统性的耳聋临床资料分析,为开展耳聋基因的分子流行病学研究提供参考依据。方法了解聋生详细的耳聋病史;进行全身及耳鼻咽喉常规检查;进行纯音听阂测试及声导抗测试,了解聋生双耳听功能和中耳功能状况。结果聋生耳聋前有耳毒性药物用药史者占8.2%,有家族史者占19.5%,综合征性耳聋占5.3%,耳聋病因不明者亦占较大比例;汉族与非汉族聋生在综合征性耳聋和聋前用药史方面无显著差异,汉族聋生有家族史的比例高于非汉族聋生。结论云南省聋生可能的致聋原因有遗传性聋、药物性聋,但大部分聋生病因不明,尚需借助分子生物学理论和技术,从基因水平进行耳聋病因学的深入研究。。
简介:目的考察3~5岁听障儿童的气质特点及其影响因素,为康复训练提供参考依据。方法选取111名3~5岁听障儿童,采用3~7岁儿童气质问卷施测。结果3~5岁听障儿童在气质各维度上的表现倾向不同(P〈0.05),适应度维度得分最高,其次为趋避性、心境、注意分散度和规律性,注意力持久性和反应阂得分最低。儿童性别、主要照顾人及其受教育水平、职业、家庭结构对听障儿童气质的多个维度具有显著影响(P〈0.05),主要表现在反应强度、注意力持久性、规律性、注意分散度、活动量、心境和适应度维度;助听设备和康复时间对听障儿童气质特点影响不明显(P〉0.05)。结论3~5岁听障儿童的气质受家庭、社会环境等多方面因素影响,但在具体特征上有其独特性。
简介:目的检测不同年龄大鼠下丘α-氨基羟甲基恶唑丙酸(α-amino-3-hydroxy-5-methyl-4-isoxazole—propionicacid,AMPA)受体亚型GluR2/3(Glutmaterecptor2/3)的分布及其与听性脑干反应(auditorybrainstemresponse,ABR)的关系。方法分别测定1,4,9,15周龄SD大鼠ABR反应阈;FITC标记免疫组化方法检测GluR2/3亚型在不同周龄SD大鼠下丘中的分布。结果1周龄SD大鼠检测不到明显的ABR波形.4周龄起能检测到稳定的ABR波形。GluR2/3在不同年龄大鼠下丘神经元中均有表达。1周龄大鼠染色较少,位于胞膜;4周龄时表达强,主要位于胞膜;9周龄时较弱,位于胞膜及胞质;15周龄时可见于胞膜及核周胞质,但胞质较强。4周龄与1、9、15周龄胞膜相比,GluR2/3亚型的表达较强,差异有显著性;1周与9周、15周龄胞膜之间.GluR2/3的表达较弱,差异无显著性。结论出生后GluR2/3在下丘的含量及分布部位均随年龄变化而变化.这种改变可能与下丘的发育相关。
简介:目的考察3-6岁听障儿童语言功能发展的特点。方法利用《听障儿童语言功能评估》对202例3-6岁听障儿童进行跟踪评估,分别在基线期、6个月后、12个月后进行测试;对3次评估结果进行比较,分析不同年龄组之间的差异,并将听障儿童评估分数与健听儿童参考值对比。结果听障儿童的各项语言功能随时间推移极显著提高(P=0.000〈0.01);听障儿童年龄越大,语言功能越强,年龄组之间存在显著差异(P〈0.05);所有年龄段听障儿童基线评估得分均低于3岁健听儿童期望值,康复12个月后,3、4岁听障儿童达到同龄健听儿童期望值,5、6岁听障儿童和同龄健听儿童仍有差距。结论听障儿童的语言功能和健听儿童存在差距,但经过康复可有较大提升,且干预年龄越小,提升速度越快。
简介:ObjectiveAlongwithchangesintheecologysystemandundertheinfluenceofvariousenvironmentalfactors,theincidenceoftumorhasbeenincreasingyearafteryear.Thereisatrendincancertherapytomovetocombinedtherapiesinvolvingsurgery,radiationchemotherapyandgenetherapy.Cancergenetherapyinrecentyearshasbroughtnewopportunitiesfortreatmentoftumor.Itsadvantagesincludelowrateoftolerance,insensitivitytocellcycles,highspecificityandcoverageforbothprimaryandmetastatictumors1,2.However,thisisanewfieldofclinicalresearch.RegardingthecorrelationamongtheSTAT3,CyclinD1andP21genesandtumors,researchhasfocusedontheirexpressionandregulation.Thisarticleprovidesasummaryofrelatedresearch.
简介:目的探讨肿瘤继发性舌咽神经痛的致病机理和外科治疗。方法回顾性分析1993年1月-2002年6月收治的3例桥小脑角肿瘤继发性舌咽神经痛的临床和病理组织学资料。结果3例患者均为女性,分别为桥小脑角的舌咽神经鞘膜瘤、微小血管瘤样脑膜瘤和脉络丛乳头状瘤。主要临床表现是咽部和舌根部疼痛或伴有耳深部疼痛。1例行肿瘤切除及舌咽神经切断术,另2例行肿瘤切除、舌咽神经切断及迷走神经1-2支感觉支切断术,3例均取得满意疗效。3例术后出现轻度声嘶。随访平均2.3年,3例肿瘤及疼痛均无复发。结论桥小脑角肿瘤是引起舌咽神经痛的原因之一。切除肿瘤同时行舌咽神经根及迷走神经1-2支感觉支切断是治疗肿瘤继发性舌咽神经痛的有效方法。
简介:Objective:Basedontheclinicalmanifestationsofahearinglosspatient,thePOU3F4genewastestedfordiagnosisofetiology.Methods:Acomprehensivephysicalexaminationwasperformedontheprobandtoexcludeabnormalitiesofotherorgans,anddetailedaudiologicaltestingandtemporalboneCTscanwerealsoperformed.GenomicDNAwasextractedusingtheproband’speripheralbloodleukocytes.Polymerasechainreactions(PCR)wereperformedinthecodingsequenceofthePOU3F4gene.DirectDNAsequencingwassubsequentlyappliedtoscreentheentirecodingregionofthePOU3F4gene.Results:Theprobandhadseveresensorineuralhearingloss.TemporalCTshowedbilateralcochlearincompletepartition,vestibuledysplasia,internalauditorycanalfundusexpansion,andcochlearinterlinkwiththeinternalauditorycanalfundus.Anovelmutation(c.530C>A(p.S177X))inthePOU3F4genewasfoundinthispatient,creatingannewstopcodonandwaspredictedtoresultinatruncatedproteinlackingnormalPOU3F4transcriptionfactorfunction.Conclusion:ThroughanalysisofthePOU3F4geneandclinicalmanifestationsinthepatient,weconcludethatanovelmutationmayhaveresultedinaprematurestopcodon,contributingtothemutationofPOU3F4gene.
简介:目的考察音乐教育对3-4岁听障儿童听觉能力、言语能力发展的影响。方法将40名3-4岁语前聋儿童随机分成实验组和对照组,每组20人。在5个月内,实验组持续参加每周1次、每次1小时的音乐教育课程;对照组只接受常规的康复教育。采用《听障儿童听觉、言语能力测试表》测试两组被试在实验前后的听觉能力和言语能力。结果①在听觉能力、言语能力测试总分上,实验组和对照组的前测、后测成绩均没有显著差异;②在听觉能力测试中,实验组的各项后测成绩均显著高于其前测成绩,包括声母识别率(t=-4.736,P〈0.01)、韵母识别率(t=-3.603,P〈0.01)、双音节识别率(t=-3.432,P〈0.01)、短句识别率(t=-4.228,P〈0.01)、总分(t=-5.067,P〈0.01)。对照组只在声母识别率(t=-2.877,P〈0.05)、韵母识别率(t=-2.779,P〈0.05)及总分(t=-2。393,户〈0.05)3项上的后测成绩显著高于其前测成绩;③在言语能力测试中,实验组和对照组的各项后测成绩均显著高于其前测成绩,且实验组在主题对话部分的后测成绩显著高于对照组(t=-2.076,P〈0.05)。结论音乐教育是听障儿童康复训练中可以选择使用的一种康复方式,对听障儿童的听觉能力、言语能力发展有一定的帮助。