本文選題：耳聾 + 高危因素�。� 參考：《中國(guó)人民解放軍醫(yī)學(xué)院》2014年博士論文

【摘要】：據(jù)WHO2005年估計(jì)全球耳聾殘疾人達(dá)2.78億，占世界總?cè)丝?.6%，已成為世界性的公共衛(wèi)生問(wèn)題，給家庭和社會(huì)帶來(lái)沉重負(fù)擔(dān)。作為世界人口大國(guó)，我國(guó)因聾致啞的問(wèn)題尤為突出。耳聾的早期診斷、早期干預(yù)和早期干預(yù)已成為防聾控聾工作的重點(diǎn)，而作為相應(yīng)策略和措施的制訂的依據(jù)，準(zhǔn)確反映我國(guó)聾病流行病學(xué)特征及環(huán)境與遺傳高危因素與聾病的相關(guān)性數(shù)據(jù)尤為重要。 本研究以在全國(guó)范圍內(nèi)推廣實(shí)施新生兒聽(tīng)力與基因聯(lián)合篩查為基礎(chǔ)，分別在作為普通人群的新生兒、作為高危人群的NICU新生兒開(kāi)展大規(guī)模聾病遺傳和環(huán)境高危因素流行病學(xué)研究；并對(duì)具有特殊表型的聽(tīng)神經(jīng)病在不同人群中進(jìn)行了發(fā)病情況調(diào)查及高危因素分析；同時(shí)在王秋菊教授1999-2002博士論文《遺傳性耳聾家系的收集收集、保存及基因定位研究》成果和保存的聾病資源基礎(chǔ)之上，建立了中國(guó)聾病基因庫(kù)，為進(jìn)一步聾病基因研究及遺傳和環(huán)境的復(fù)雜互做與患病危險(xiǎn)的相關(guān)研究奠定基礎(chǔ)。 本研究共分四個(gè)部分：第一部分新生兒聽(tīng)力與基因聯(lián)合篩查的耳聾高危因素與流行病學(xué)特點(diǎn)分析 選取2006年12月-2014年3月實(shí)施新生兒聽(tīng)力及基因聯(lián)合篩查的118106例新生兒作為篩查對(duì)象，分析全國(guó)總體及各地區(qū)的新生兒中聽(tīng)力與基因聯(lián)合篩查流行病學(xué)特點(diǎn)，，并分析研究遺傳和環(huán)境因素與篩查結(jié)果的相關(guān)性與差異。 研究獲得了新生兒全國(guó)總體與13省市的聽(tīng)力與基因聯(lián)合篩查數(shù)據(jù)，118106例新生兒聽(tīng)力與基因聯(lián)合篩查均通過(guò)100740例，即聯(lián)合篩查通過(guò)率為85.30%。未通過(guò)17366例，即聯(lián)合篩查未通過(guò)率為14.70%，其中，聽(tīng)力與基因均未通過(guò)867例，聽(tīng)力篩查通過(guò)而基因未通過(guò)2215例，聽(tīng)力篩查未通過(guò)而基因通過(guò)14284例。長(zhǎng)江以南各省市聽(tīng)力篩查未通過(guò)率一般明顯高于長(zhǎng)江以北的城市，13個(gè)省市聽(tīng)力初篩未通過(guò)率在0%-25.72%之間，總體為12.83%。7個(gè)省市間聽(tīng)力復(fù)篩OAE未通過(guò)率在1.32%-19.20%之間，總體聽(tīng)力復(fù)篩未通過(guò)率約為2.40%。13個(gè)省市間比較，耳聾高危因素發(fā)生率、NICU住院患兒比例、新生兒聽(tīng)力初篩和復(fù)篩未通過(guò)情況，GJB2基因突變率、SLC26A4基因突變率均存在明顯地域差異（P0.01）。經(jīng)過(guò)卡方檢驗(yàn)及相關(guān)性分析，發(fā)現(xiàn)有高危因素者、聾病易感基因異常者、存在GJB2、SLC26A4異常者在篩查人群中的構(gòu)成比不同是各地區(qū)篩查結(jié)果差異的主要原因。 本研究對(duì)不同聽(tīng)力復(fù)篩方式及聯(lián)合篩查與單純聽(tīng)力篩查間均進(jìn)行了統(tǒng)計(jì)分析，發(fā)現(xiàn)選擇DPOAE聯(lián)合AABR的方式進(jìn)行復(fù)篩，聽(tīng)力與基因聯(lián)合篩查明顯優(yōu)于單純采用聽(tīng)力篩查可明顯提高檢出率（P0.01）。通過(guò)聽(tīng)力與基因聯(lián)合篩查結(jié)果，我們將全國(guó)118106例新生兒分為四類(lèi)人群進(jìn)行不同的隨訪和干預(yù)策略。（1）進(jìn)入目前成熟的0-6歲聽(tīng)力篩查隨訪流程的新生兒100740例，約占全部新生兒中的85.30%。（2）立即進(jìn)入聽(tīng)力學(xué)、醫(yī)學(xué)及遺傳學(xué)聯(lián)合診斷流程的新生兒867例，約占全部新生兒的0.73%。（3）進(jìn)入終生高度預(yù)警流程的新生兒2215例，約占全部新生兒的1.88%。（4）需進(jìn)行聽(tīng)力學(xué)診斷流程的新生兒14284例，約占全部新生兒的12.09%，為新基因研究重點(diǎn)人群。 本研究發(fā)現(xiàn)存在耳聾高危因素新生兒聽(tīng)力篩查與基因篩查的未通過(guò)率均明顯高于無(wú)高危因素新生兒，聽(tīng)力篩查為33.68%：10.29%；基因篩查為4.25%：2.41%。對(duì)目前公認(rèn)的13種耳聾高危因素在普遍人群新生兒中進(jìn)行了相關(guān)和回歸分析，發(fā)現(xiàn)明確危險(xiǎn)因素8種，按其風(fēng)險(xiǎn)增加倍數(shù)依次為臨床上存在或懷疑有與聽(tīng)力障礙有關(guān)的綜合征或遺傳�。�2.978倍）、高膽紅素血癥達(dá)到換血要求（1.879倍）、巨細(xì)胞病毒、風(fēng)疹病毒、皰疹病毒、梅毒或弓形體病等引起的宮內(nèi)感染（1,757倍）、新生兒重癥監(jiān)護(hù)病房（NICU）住院超過(guò)5天（1.122倍）、早產(chǎn)兒呼吸窘迫綜合征（0.928倍）、兒童期永久性聽(tīng)力障礙家族史（0.770倍）、新生兒窒息Apgar評(píng)分1分鐘0-4分或5分鐘0-6分（0.659倍）、顱面畸形（0.659倍）、基因異常（0.279倍）。發(fā)現(xiàn)出生體重低于1500克、病毒性或細(xì)菌性腦膜炎、體外膜肺氧合治療、機(jī)械通氣超過(guò)48小時(shí)等4種因素可能為危險(xiǎn)因素。 第二部分中國(guó)NICU新生兒耳聾高危因素的多中心研究 本研究以NICU經(jīng)歷的活產(chǎn)新生兒為研究對(duì)象，同時(shí)隨機(jī)選取同時(shí)期、同地區(qū)正常產(chǎn)房新生兒為對(duì)照，實(shí)施統(tǒng)一的新生兒聽(tīng)力與基因聯(lián)合篩查，進(jìn)行多中心、前瞻性的臨床對(duì)照研究，以獲得中國(guó)耳聾高危人群NICU新生兒聽(tīng)力與基因聯(lián)合篩查的流行病學(xué)特征，分析NICU新生兒與普通產(chǎn)房新生兒之間耳聾發(fā)病特點(diǎn)的差異。 研究發(fā)現(xiàn)：NICU新生兒聽(tīng)力篩查與基因篩查未通過(guò)率明顯高于普通產(chǎn)房新生兒。4個(gè)常見(jiàn)耳聾基因20個(gè)熱點(diǎn)突變的基因篩查方案在提高檢出率方面優(yōu)于4個(gè)位點(diǎn)的方案。 NICU新生兒初篩DPOAE未通過(guò)率約為14.92%，普通產(chǎn)房的新生兒未通過(guò)率為8.90%，兩組間未通過(guò)率差異有統(tǒng)計(jì)學(xué)意義（P0.05），前者為后者的1.68倍。AABR聽(tīng)力初篩NICU組未通過(guò)率約為8.06%，普通產(chǎn)房新生兒未通過(guò)率為0.05%，差異有統(tǒng)計(jì)學(xué)意義（P0.01），NICU新生兒AABR初篩未通過(guò)率為普通產(chǎn)房的161.2倍。NICU新生兒基因篩查突變檢出率約為11.32%；其中，GJB2突變檢出率為5.83%，SLC26A4突變檢出率為3.77%，GJB3突變檢出率為0.51%，MTRNR1突變檢出率為0.69%。普通產(chǎn)房新生兒基因篩查突變檢出率約為4.45%；其中，GJB2突變檢出率為1.93%；SLC26A4突變檢出率為1.98%；GJB3突變檢出率為0.43%；MTRNR1突變檢出率為0.11%。NICU新生兒的基因突變攜帶率、GJB2突變攜帶率、SLC26A4突變攜帶率與普通產(chǎn)房新生兒間有顯著性差異（P0.01）。而GJB3和MTRNR1突變兩組間無(wú)差異（P0.05）。 第三部分聽(tīng)神經(jīng)病譜系障礙的流行病學(xué)特征與高危因素分析 本研究針對(duì)10093例（16993耳）感音神經(jīng)性聾患者、5134例新生兒及1406例外院上轉(zhuǎn)需進(jìn)行聽(tīng)力學(xué)診斷嬰幼兒，回顧性分析聽(tīng)神經(jīng)病譜系障礙（ANSD）的流行病學(xué)特征，并對(duì)其相關(guān)因素進(jìn)行初步分析。 研究發(fā)現(xiàn)：ANSD在感音神經(jīng)性聾患者中發(fā)病率最高，其次為上轉(zhuǎn)嬰幼兒，新生兒中發(fā)病率最低，發(fā)病率分別為2.259%，1.067%，0.156%（Χ2=15644.151，P0.001）。 在感音神經(jīng)性聾人群中ANSD患者年齡3個(gè)月-73歲，平均17.7歲；病程1個(gè)月-20年，平均3.4年。男女發(fā)病率無(wú)差異（Χ2=1.262，P0.05）。雙側(cè)發(fā)病率約為3.043%，單側(cè)約為0.564%，單雙側(cè)發(fā)病比例為1:11.67；左側(cè)發(fā)病率為0.307%，右側(cè)約為0.830%，單雙側(cè)間（Χ2=60.793，P0.01）、左側(cè)與右側(cè)間（Χ2=3.891，P0.05）發(fā)病率均有顯著性差異。0-6歲ANSD發(fā)病率約為4.900%，7-12歲約為2.222%，13-18歲約為3.297%，19-30歲約為5.432%，31-60歲約為0.705%，60歲以上約為0.168%，不同年齡組發(fā)病率間有非常顯著性差異（Χ2=197.482，P0.01）。聽(tīng)力損失輕度者發(fā)病率約為2.246%，中度約為2.750%，重度約為4.738%，極重度約為1.682%，四組發(fā)病率間差異有統(tǒng)計(jì)學(xué)意義（Χ2=84.903，P0.01）；聽(tīng)力損失嚴(yán)重程度與ANSD發(fā)病率間存在相關(guān)性（r=0.19，P0.05）。ANSD患者純音聽(tīng)力曲線以低頻上升型最常見(jiàn)（48.122%，不同曲線類(lèi)型間P0.01）；鼓室圖曲線以A型為主（78.879%，不同鼓室圖間P0.01），鐙骨肌反射多引不出（76.724%）；CM可引出率約為57.895%�；颊吣挲g及病程分別與PTA、ASSR閾值、言語(yǔ)識(shí)別率具有相關(guān)性（P0.01），與AERP無(wú)明顯相關(guān)性（P0.05）。在相同病程水平，PTA與ASSR均值間存在顯著性差異（P0.05）。耳聾高危因素存在率約為11.842%，以高膽紅素血癥、家族史、早產(chǎn)多見(jiàn)。 在新生兒人群中ANSD發(fā)病率約為0.156%。不同性別間和不同分娩方式間發(fā)病率無(wú)顯著性差異（P0.05）。DPOAE初篩通過(guò)的新生兒中ANSD的發(fā)病率約為0.087%，未通過(guò)者約為0.765%，二者間存在非常顯著性差異（P0.01）。AABR復(fù)篩未通過(guò)者的ANSD的發(fā)病率約為10.127%，通過(guò)者約為0.160%，二者間有非常顯著性差異（P0.01）。DPOAE初篩未通過(guò)（r=-0.052，P0.01）和AABR復(fù)篩未通過(guò)（r=-0.316，P0.01）是新生兒ANSD的危險(xiǎn)因素；ANSD在具有耳聾高危因素新生兒中發(fā)病率為約為0.255%，在早產(chǎn)兒中的發(fā)病率約為0.429%，早產(chǎn)與ANSD無(wú)明顯相關(guān)性（r=0.015，P0.05）。 在上轉(zhuǎn)進(jìn)行聽(tīng)力學(xué)診斷的嬰幼兒中聽(tīng)神經(jīng)病患兒ANSD發(fā)病率為1.067%。男女間無(wú)差異（P0.05）。聽(tīng)力損失均為重度和極重度，其中重度聾嬰幼兒中發(fā)病率約占5.263%，極重度約為6.686%，二者間差異有統(tǒng)計(jì)學(xué)意義（P0.05）。無(wú)NICU住院史上轉(zhuǎn)嬰幼兒發(fā)病率約為0.394%，有NICU住院史者約為1.136%，NICU住院史與ANSD發(fā)病間無(wú)明顯相關(guān)性（r=0.030，P0.05）。無(wú)耳聾高危因素上轉(zhuǎn)嬰幼兒ANSD發(fā)病率約為0.933%，存在高危因素者發(fā)病率約為2.469%，早產(chǎn)低體重兒ANSD發(fā)病率約為5.882%，高膽紅素血癥患兒ANSD發(fā)病率為2.326%，但早產(chǎn)低體重、高膽紅素血癥均與ANSD無(wú)明顯相關(guān)性（P0.05）。 第四部分中國(guó)聾病基因庫(kù)的建立與樣本管理 本研究在王秋菊教授1999-2002博士論文《遺傳性耳聾家系的收集收集、保存及基因定位研究》成果和保存的聾病資源基礎(chǔ)之上，建立了中國(guó)聾病基因庫(kù)，實(shí)現(xiàn)了聾病信息與樣本資源的信息化和自動(dòng)化管理。共收集耳聾和進(jìn)行聽(tīng)力學(xué)檢查患者資料580778例次，保存聽(tīng)力學(xué)資料212951例次，血樣241405份，DNA32371份。其中，聽(tīng)覺(jué)障礙大小家系及散發(fā)病例8028例，聽(tīng)神經(jīng)病譜系障礙331例，是國(guó)際上該領(lǐng)域聽(tīng)覺(jué)障礙遺傳資源最為豐富的研究小組之一。同時(shí)，收集了118106例新生兒聽(tīng)力與基因聯(lián)合篩查、1406例上轉(zhuǎn)進(jìn)行聽(tīng)力學(xué)診斷的嬰幼兒的信息及樣本資源、對(duì)2880例聾校學(xué)生進(jìn)行了基因篩查，收集感音神經(jīng)性聾15588例，突發(fā)性耳聾1120例及40萬(wàn)例次以上的臨床聽(tīng)力學(xué)聾病患者資料，為進(jìn)一步聾病基因研究及遺傳和環(huán)境的復(fù)雜互做與患病危險(xiǎn)的相關(guān)研究奠定基礎(chǔ)。
[Abstract]:According to the estimated 278 million deafness in WHO2005 and 4.6% of the world's total population, it has become a worldwide public health problem and has brought a heavy burden to the family and society. As a big country in the world, the problem of deaf mutes is particularly prominent in our country. Early diagnosis of deafness, early intervention and early intervention have become the key to deafness and deafness. As a basis for formulating the corresponding strategies and measures, it is very important to accurately reflect the epidemiological characteristics of the deafness and the correlation data between the environment and the genetic risk factors and the deafness.
This study was based on the promotion and implementation of neonatal hearing and gene screening throughout the country. The epidemiological studies on the genetic and environmental risk factors of large-scale deafness were carried out in the newborns of the general population as the NICU newborns of the high risk population, and the auditory neuropathy with special phenotypes was carried out in different populations. At the same time, on the basis of the collection and collection of the hereditary deafness family, the results of conservation and gene localization, and the preservation of the deafness resources, Professor Wang Qiuju, Professor Wang Qiuju, established a Chinese deafness gene bank for further deafness research and the complex interaction and disease of heredity and environment. The risk related research lays the foundation.
This study is divided into four parts: Part One: high risk factors and epidemiological characteristics of hearing loss combined with genetic screening in newborns
118106 newborns with neonatal hearing and gene screening in March -2014 in December 2006 were selected as screening subjects. The epidemiological characteristics of hearing and gene screening in the whole country were analyzed, and the correlation and difference between genetic and environmental factors and screening results were analyzed.
The study obtained the data of hearing and gene screening in the whole country of the whole country and 13 provinces and cities. 118106 cases of newborn hearing and gene screening were all passed through 100740 cases, that is, the rate of 85.30%. was not passed in 17366 cases, that is, the failure rate of joint screening was 14.70%, of which 867 cases of hearing and gene were not passed and hearing screening was passed. The hearing screening was not passed in 2215 cases, and the hearing screening was not passed in 14284 cases. The rate of hearing screening was generally higher than that of the north of the Yangtze River in the south of the Yangtze River. The hearing loss rate was between the 13 provinces and cities in the 13 provinces and cities. The overall hearing loss rate was between the 12.83%.7 provinces and cities, the total hearing loss rate was between the 1.32%-19.20% and the overall hearing. The rate of non passing of rescreening was about 2.40%.13 provinces and cities, the incidence of high risk factors of deafness, the proportion of NICU hospitalized children, newborn hearing screening and rescreening, the mutation rate of GJB2 gene and the mutation rate of SLC26A4 gene had obvious regional difference (P0.01). After chi square examination and correlation analysis, it was found that people with high risk factors were susceptible to deafness. Among the abnormal gene users, the difference in the constituent ratio between the GJB2 and SLC26A4 abusers in the screening population is the main reason for the difference in screening results.
In this study, the statistical analysis of different hearing screening methods, combined screening and simple hearing screening was carried out. It was found that the selection of DPOAE combined with AABR for rescreening, hearing and gene screening were obviously better than those with simple hearing screening (P0.01). 118106 newborns were divided into four groups to carry out different follow-up and intervention strategies. (1) 100740 newborns entered the mature 0-6 year old hearing screening process, accounting for about 85.30%. (2) of all newborns entering audiology, 867 cases of newborns with medical and genetics diagnostic flow, accounting for about 0.73%. (3) of all newborns. 2215 newborns entered the lifetime early warning process, accounting for about 1.88%. (4) of all newborns, 14284 cases of newborns requiring audiological diagnosis process, accounting for 12.09% of all newborn babies, as the key population of new gene research.
This study found that the rate of hearing screening and gene screening in newborn infants with high risk of deafness was significantly higher than that of newborns without high risk factors. Hearing screening was 33.68%:10.29%, and gene screening was 4.25%:2.41%. for 13 high-risk factors of deafness in the general population. 8 kinds of risk factors were identified, and the multiplier of the risk increased in order of clinical existence or suspected of hearing impairment related syndrome or hereditary disease (2.978 times), hyperbilirubinemia reached the demand for change of blood (1.879 times), cytomegalovirus, rubella virus, herpes virus, syphilis or toxoplasmosis (1757 times), severe neonatal severe The intensive care unit (NICU) was hospitalized for more than 5 days (1.122 times), premature infant respiratory distress syndrome (0.928 times), family history of childhood permanent hearing impairment (0.770 times), neonatal asphyxia Apgar score of 1 minutes, 0-4 or 5 minutes 0-6 (0.659 times), craniofacial malformation (0.659 times), and genetic abnormalities (0.279 times). The birth weight was less than 1500, viral or bacterial 4 factors, including meningitis, extracorporeal membrane oxygenation, mechanical ventilation for more than 48 hours, may be a risk factor.
The second part is a multicenter study on the high risk factors of NICU deafness in China.
In this study, the live birth neonates experienced by NICU were studied at the same time. At the same time, the same period was selected and compared with the normal delivery room newborns in the region. A unified neonatal hearing and gene screening was carried out, and a multicenter, prospective clinical control study was carried out to obtain a combined hearing and gene screening for NICU neonates at high risk of hearing loss in China. Epidemiological characteristics were analyzed to analyze the difference of deafness between NICU neonates and neonates in delivery room.
The study found that the unpassed rate of NICU newborn hearing screening and gene screening was significantly higher than that of the.4 common deafness gene mutation screening program in the normal delivery room, which was better than the 4 loci in improving the detection rate.
The rate of initial screening of DPOAE in NICU newborn was about 14.92%, the rate of non passing of newborns in the ordinary delivery room was 8.90%, and the difference between the two groups was statistically significant (P0.05). The former was 1.68 times of the latter, the failure rate of NICU group in the NICU group was about 8.06%, and the rate of failure in the general delivery room newborns was 0.05%, and the difference was statistically significant (P0.01), NICU The rate of mutation detection of the 161.2 times.NICU newborn gene screening in the normal delivery room was about 161.2 times that of the normal delivery room. The detection rate of GJB2 mutation was 5.83%, the detection rate of SLC26A4 mutation was 3.77%, the detection rate of GJB3 mutation was 0.51%, and the detection rate of MTRNR1 mutation was about 4.45% in the 0.69%. general delivery room. Among them, GJB2 mutation detection rate was 1.93%, SLC26A4 mutation detection rate was 1.98%, GJB3 mutation detection rate was 0.43%, MTRNR1 mutation detection rate was 0.11%.NICU neonatal gene mutation carrying rate, GJB2 mutation carrier rate, SLC26A4 mutation carrier rate and normal delivery room newborns have significant difference (P0.01). GJB3 and MTRNR1 mutation two groups were not. Differences (P0.05).
The third part is the epidemiological characteristics and risk factors of auditory neuropathy spectrum disorders.
In this study, 10093 cases (16993 ears) of sensorineural deafness, 5134 cases of newborns and 1406 exceptions for audiology diagnosis of infants, the epidemiological characteristics of auditory neuropathy pedigree disorder (ANSD) were analyzed retrospectively, and the related factors were analyzed.
The study found that the incidence of ANSD was the highest in patients with sensorineural deafness, followed by upturn infants and the lowest incidence in newborns, with the incidence of 2.259%, 1.067%, and 0.156% respectively (2=15644.151, P0.001).
Among the people with sensorineural hearing loss, ANSD patients were aged 3 months -73 years old, with an average of 17.7 years of age; the course of disease was 1 months -20, averaging 3.4 years. There was no difference between male and female (2=1.262, P0.05). The incidence of bilateral incidence was about 3.043%, unilateral was 0.564%, the incidence of unilateral and bilateral was 1:11.67; Zuo Cefa's disease rate was 0.307%, and the right was about 0.830%, single and bilateral (2=60.793). There was a significant difference in the incidence of 2=3.891, P0.05 between the left and the right (P0.01). The incidence of ANSD was about 4.900% at the age of.0-6, about 2.222% at the age of 7-12, 3.297% in 13-18, 5.432% in 19-30, 0.705% in 31-60, and about 60 years of age. The incidence of hearing loss in different age groups was very significant (2=197.482, P0.01). Hearing loss was light. The incidence of the disease was about 2.246%, the moderate was about 2.750%, the severity was about 4.738%, and the extreme severity was about 1.682%. The difference between the four groups was statistically significant (2=84.903, P0.01); there was a correlation between the severity of hearing loss and the incidence of ANSD (r=0.19, P0.05), the most common (48.122%, different tune) of the pure tone audiometric curve in the patients with.ANSD. P0.01 between line types); the tympanoplasty curve was mainly A type (78.879%, different tympanum P0.01), stapes muscle reflex was not more than (76.724%); CM elicitation rate was about 57.895%. patients with PTA, ASSR threshold, speech recognition rate correlation (P0.01), and no significant correlation with AERP (P0.05). In the same course level, PTA and ASSR There was a significant difference between the mean (P0.05). The high risk factor for deafness was about 11.842%, with hyperbilirubinemia, family history and premature birth.
In newborns, the incidence of ANSD was about 0.156%. between different sexes and different modes of delivery (P0.05), the incidence of ANSD was about 0.087% in the newborns passing through the.DPOAE screening, and about 0.765% of those who failed to pass, and there was a very significant difference between the two (P0.01) the incidence of ANSD of the.AABR rescreening was about 1 (P0.01). 0.127%, through about 0.160%, there is a very significant difference between the two (P0.01).DPOAE screening (r=-0.052, P0.01) and AABR rescreening (r=-0.316, P0.01) is a risk factor for neonatal ANSD; ANSD in high-risk neonates with deafness is about 0.255%, the incidence of premature infants is about 0.429%, preterm and ANSD There was no significant correlation (r=0.015, P0.05).
The incidence of ANSD in children with audiological diagnosis of auditory neuropathy was 1.067%. between men and women (P0.05). The hearing loss was both severe and severe, among them, the incidence of severe deafness was about 5.263%, and the extreme severity was about 6.686%. The difference between the two was statistically significant (P0.05). The incidence of infants and young children in the history of NICU was not transferred to infants. The rate was about 0.394%, the history of NICU hospitalization was about 1.136%. There was no significant correlation between the history of NICU hospitalization and the incidence of ANSD (r=0.030, P0.05). The incidence of ANSD in infants with no high risk factors for hearing loss was about 0.933%, the incidence of high-risk factors was about 2.469%, the rate of ANSD onset in premature infants with low birth weight was about 5.882%, and the incidence of ANSD in children with hyperbilirubinemia was ANSD. 2.326%, but premature birth, low body weight and hyperbilirubinemia were not significantly correlated with ANSD (P0.05).
The fourth part is the establishment of Chinese Deaf gene pool and sample management.
In this study, on the basis of the collection, collection and collection of hereditary deafness of Professor Wang Qiuju's 1999-2002 doctoral thesis, the results of the preservation and gene localization study and the preservation of the deafness resources, the Chinese deafness gene bank was established, and the information and automatic management of the information and sample resources of the deafness were realized. There were 580778 cases, 212951 cases of audiology, 241405 blood samples and DNA32371. Among them, 8028 cases of hearing impairment and 8028 sporadic cases and 331 cases of acoustic neuropathic disorder were one of the most abundant research groups in the field of hearing disorder in the world. At the same time, 118106 cases of newborn hearing and genes were collected. Combined screening, 1406 cases of information and sample resources for audiological diagnosis of infants, 2880 cases of deaf students were screened by gene screening, 15588 cases of sensorineural hearing loss, 1120 cases of sudden deafness and 400 thousand cases more than 400 thousand cases of hearing deafness, for further genetic research of deafness and the complexity of heredity and environment Mutual research lays the foundation for the related research on the risk of disease.
【學(xué)位授予單位】：中國(guó)人民解放軍醫(yī)學(xué)院
【學(xué)位級(jí)別】：博士
【學(xué)位授予年份】：2014
【分類(lèi)號(hào)】：R764.43

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