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| 1 | 突发性聋的治疗研究进展显示文摘突发性聋(sudden deafness,SD)是耳鼻喉科常见急诊之一,多见于中年人,以单侧发病居多,男女发病率无明显差异。近年来其发病率呈上升趋势,有研究报道其发病率每年约5/10万至20/10万[1]。依据中华医学会耳鼻咽喉-头颈外科学会突发性聋的诊断和治疗指南(2005年),突发性耳聋即突然发生可在数分钟、数小时、3 d以内出现原因不明的感音神经性耳聋,至少相连的2个频率听力下降20 dB以上。 | 游明瑷 | 2014 | 现代临床医学2014，40，6： | 13 |
| 2 | 高压氧结合药物治疗突发性耳聋的疗效分析显示文摘突发性耳聋(sudden deafness,SD)是耳鼻咽喉头颈外科急症之一,是指在数分钟、数小时或3d以内出现原因不明的至少在相连的2个频率听力下降20dB[1]的感音神经性听力损失。随着生活节奏的加快,饮食习惯的改变,突发性耳聋的发病率逐年上升并趋向年轻化。其致聋、致残的后果对患者的心理和生理造成较严重的打击。突发性耳聋在临床有自愈倾向,但及时有效的治疗可明显提高治愈率,改善预后。 | 王海燕 | 2015 | 山西医药杂志2015，44，15： | 11 |
| 3 | GJB2 mutation spectrum in deaf population in a typical southeastern area of China显示文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible. | DAI Pu1*, YOU Yi-wen2*, CUI Jing-hong2*, YU Fei1, HAN Bing 1, KANG Dong-yang1, YUAN Hui-jun1, HAN Dong-yi1, 1. Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic China, 100853 2. Department of Otolaryngology, Nantong University Affiliated Hospital, Nantong, Jiangsu Province, People’s Republic China, 226001 *Pu Dai, Yiwen You, Jinghong Cui contribute equally to this paper | 2006 | Journal of Otology2006，1，2： | 10 |
| 4 | 单侧聋患者人工耳蜗植入的进展显示文摘既往未将双耳非对称性听力损失(asymmetric hearing loss,AHL)的极端案例-单侧听力损失(unilateral hearing loss,UHL)或单侧聋(single side deafness,SSD)纳入人工耳蜗植入的适应症。近年来有人开始尝试为单侧聋伴有严重耳鸣的患者患耳植入人工耳蜗,结果发现不但可以有效地减轻甚至消除耳鸣,而且还发现适应后可以与健耳听力很好地整合,从而达到双耳聆听的效果。 | 银力(综述) 高珊仙(综述) 屠文河(综述) 曹永茂(综述) 平利川(综述) 龙墨(综述) 傅前杰(审校) 高志强(审校) | 2017 | 听力学及言语疾病杂志2017，25，2： | 10 |
| 5 | Long-term follow-up of auditory performance and speech perception and effects of age on cochlear implantation in children with pre-lingual deafness显示文摘Background: The development of auditory and speech perception ability of children with hearing loss is affected by many factors after they undergo cochlear implantation (CI). Age at CI (CI age) appears to play an important role among these factors. This study aimed to evaluate the development of auditory and speech perception ability and explore the impact of CI age on children with pre-lingual deafness present before 3 years of age. Methods: Two hundred and seventy-eight children with pre-lingual deafness (176 boys and 102 girls) were included in this study, and the CI age ranged from 6 to 36 months (mean age, 19 months). Categorical auditory performance (CAP) was assessed to evaluate auditory ability, and the speech intelligibility rating was used to evaluate speech intelligibility. The evaluations were performed before CI and 1, 3, 6, 12, 18, 24, 36, 48, and 60 months after CI. Results: The auditory ability of the pre-lingually hearing-impaired children showed the fastest development within 6 months after CI (k = 0.524, t = 30.992, P < 0.05);then, the progress started to decelerate (k = 0.14, t = 3.704, P < 0.05) and entered a plateau at the 24th month (k = 0.03, t = 1.908, P < 0.05). Speech intelligibility showed the fastest improvement between the 12th and 24th months after CI (k = 0.138, t = 5.365, P < 0.05);then, the progress started to decelerate (k = 0.026, t = 1.465, P < 0.05) and entered a plateau at the 48th month (k = 0.012, t = 1.542, P < 0.05). The CI age had no statistical significant effect on the auditory and speech abilities starting at 2 years after CI (P > 0.05). The optimal cutoff age for CI was 15 months. Conclusions: Within 5 years after CI, the auditory and speech ability of young hearing-impaired children continuously improved, although speech development lagged behind that of hearing. An earlier CI age is recommended;the optimal cutoff age for CI is at 15 months. | Jing Lyu Ying Kong Tian-Qiu Xu Rui-Juan Dong Bei-Er Qi Shuo Wang Yong-Xin Li Hai-Hong Liu Xue-Qing Chen | 2019 | Chinese Medical Journal2019，，16： | 9 |
| 6 | The genetic basis of deafness in populations of African descent显示文摘Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide. | Jason R.Rudman Rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu | 2017 | Journal of Genetics and Genomics2017，44，6： | 7 |
| 7 | Migraine and Cochlear Symptoms显示文摘Migraine is one of the most common and highest burdens of disease.As a primary cerebral dysfunction illness,migraine might exhibit other system-related symptoms,including vestibular and cochlear symptoms.With the publication of the diagnostic criteria of vestibular migraine,the link between migraine and vestibular symptoms became clear.However,the relationship between migraine and cochlear symptoms is far from straightforward.Therefore,we focus on the correlation between migraine and deafness,sudden sensorineural hearing loss,acute tinnitus,and chronic tinnitus to better understand the relationship between migraine and cochlear symptoms. | Xin MA Yu-jie KE Yuan-yuan JING Tong-xiang DIAO Li-sheng YU | 2021 | Current Medical Science2021，41，4： | 3 |
| 8 | HUMAN MITOCHONDRIAL tRNA MUTATIONS IN MATERNALLY INHERITED DEAFNESS显示文摘Mutations in mitochondrial tRNA genes have been shown to be associated with maternally inherited syndromic and non-syndromic deafness.Among those,mutations such as tRNALeu(UUR)3243A>G associated with syndromic deafness are often present in heteroplasmy,and the non-syndromic deafness-associated tRNA mutations including tRNASer(UCN)7445A>G are often in homoplasmy or in high levels of heteroplasmy.These tRNA mutations are the primary factors underlying the development of hearing loss.However,other tRNA mutations such as tRNAThr15927G>A and tRNASer(UCN)7444G>A are insufficient to produce a deafness phenotype,but always act in synergy with the primary mitochondrial DNA mutations,and can modulate their phenotypic manifestation.These tRNA mutations may alter the structure and function of the corresponding mitochondrial tRNAs and cause failures in tRNAs metabolism.Thereby,the impairment of mitochondrial protein synthesis and subsequent defects in respiration caused by these tRNA mutations,results in mitochondrial dysfunctions and eventually leads to the development of hearing loss.Here,we summarized the deafness-associated mitochondrial tRNA mutations and discussed the pathophysiology of these mitochondrial tRNA mutations,and we hope these data will provide a foundation for the early diagnosis,management,and treatment of maternally inherited deafness. | ZHENG Jing GONG Sha-sha TANG Xiao-wen ZHU Yi GUAN Min-xin | 2013 | Journal of Otology2013，8，1： | 2 |
| 9 | Gasdermins:pore-forming activities and beyond显示文摘Gasdermins(GSDMs)belong to a protein superfamily that is found only in vertebrates and consists of GSDMA,GSDMB,GSDMC,GSDMD,DFNA5(a.k.a.GSDME)and DFNB59(a.k.a.Pejvakin(PJVK))in humans.Except for DFNB59,all members of the GSDM superfamily contain a conserved twodomain structure(N-terminal and C-terminal domains)and share an autoinhibitory mechanism.When the N-terminal domain of these GSDMs is released,it possesses pore-forming activity that causes inflammatory death associated with the loss of cell membrane integrity and release of inflammatory mediators.It has also been found that spontaneous mutations occurring in the genes of GSDMs have been associated with the development of certain autoimmune disorders,as well as cancers.Here,we review the current knowledge of the expression profile and regulation of GSDMs and the important roles of this protein family in inflammatory cell death,tumorigenesis and other related diseases. | Zengzhang Zheng Wanyan Deng Xiwen Lou Yang Bai Junhong Wang Huasong Zeng Sitang Gong Xing Liu | 2020 | Acta Biochimica et Biophysica Sinica2020，52，5： | 2 |
| 10 | 传统声音对传式、经颅声音对传式和骨锚式经颅声音对传式助听器在成人单侧聋患者中助听效果的初步研究显示文摘目的:本研究的目的在于初步评价三种助听器-传统声音对传式(contralatearl routing of sound,CROS)、完全耳内式(completely in the canal,CIC)和骨锚式助听器(bone-anchored hearing aid,BAHA)的助听效果。方法:10例单侧感音神经性聋且对侧听力正常的患者(31-64岁,先天性聋2例,外伤致聋3例,脑膜炎致聋2例,突发性聋2例,听神经瘤1例,病程1~56年)纳入本研究。 | 管红霞 华清泉 李翠娥 Hol MKS | 2015 | 听力学及言语疾病杂志2015，23，6： | 1 |
| 11 | Profound deafness and the acquisition of spoken language in children显示文摘Profound congenital sensorineural hearing loss(SNHL) is not so infrequent,affecting 1 to 2 of every 1000 newborns in western countries.Nevertheless,universal hearing screening programs have not been widely applied,although such programs are already established for metabolic diseases.The acquisition of spoken language is a time-dependent process,and some form linguistic input should be present before the first 6 mo of life for a child to become linguistically competent.Therefore,profoundly deaf children should be detected early,and referred timely for the process of auditory rehabilitation to be initiated.Hearing assessment methods should reflect the behavioural audiogram in an accurate manner.Additional disabilities also need to be taken into account.Profound congenital SNHL is managed by a multidisciplinary team.Affected infants should be bilaterally fitted with hearing aids,no later than 3 mo after birth.They should be monitored until the first year of age.If they are not progressing linguistically,cochlear implantation can be considered after thorough preoperative assessment.Prelingually deaf children develop significant speech perception and production abilities,and speech intelligibility over time,following cochlear implantation.Age at intervention and oral communication,are the most important determi-nants of outcomes.Realistic parental expectations are also essential.Cochlear implant programs deserve the strong support of community members,professional bodies,and political authorities in order to be successful,and maximize the future earnings of pediatric cochlear implantation for human societies. | Petros V Vlastarakos | 2012 | World Journal of Clinical Pediatrics2012，1，4： | 1 |
| 12 | Future directions for screening and treatment in congenital hearing loss显示文摘Hearing loss is the most common neurosensory deficit.It results froma variety of heritable and acquired causes and is linked to multiple deleterious effects on a child’s development that can be ameliorated by prompt identification and individualized therapies.Diagnosing hearing loss in newborns is challenging,especially in mild or progressive cases,and its management requires a multidisciplinary team of healthcare providers comprising audiologists,pediatricians,otolaryngologists,and genetic counselors.While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before,a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality.In this review,we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment. | Ryan K.Thorpe Richard J.H.Smith | 2020 | Precision Clinical Medicine2020，3，3： | 1 |
| 13 | Advantages of a miniature pig model in research on human hereditary hearing loss显示文摘In medical laboratory animals,the pig is the closest species to human in evolution,except for primates.As an animal model,the pig is highly concerned by many scientists,including comparative biology,developmental biology,medical genetics.Rodents as animal model for human hearing defects has are poor producibility and reliability,due to differences in anatomical structure,evolutionary rate and metabolic rate,but these happens to be the advantages of the pig model.In this paper,we will summarize the application of miniature pig in the study of human hereditary deafness. | Weiwei Guo Shi-ming Yang | 2015 | Journal of Otology2015，10，3： | 1 |
| 14 | Tuberculous otitis media in an adult in a primary care setting:A case report显示文摘Tuberculous otitis media is a rare disease,hence not often considered in the differential diagnosis of otorrhea.This results in late diagnosis with resulting complications such as irreversible hearing loss.A case report with review of the literature is presented,emphasizing that tuberculosis should be considered in the differential diagnosis of otorrhea not responding to commonly prescribed antibiotics.We also emphasize the importance of awareness creation in the management of such a disease,involving family members to oversee treatment and also research on ways of shortening duration of treatment to avoid default in treatment. | Paul O Dienye Geraldine U Ndukwu | 2010 | Asian Pacific Journal of Tropical Medicine2010，3，9： | 1 |
| 15 | Various aspects of hearing loss in newborns:A narrative review显示文摘Hearing loss is considered the most common birth defect.The estimated prevalence of moderate and severe hearing loss in a normal newborn is 0.1%-0.3%,while the prevalence is 2%-4%in newborns admitted to the newborn intensive care unit.Neonatal hearing loss can be congenital(syndromic or nonsyndromic)or acquired such as ototoxicity.In addition,the types of hearing loss can be conductive,sensorineural,or mixed.Hearing is vital for the acquisition of language and learning.Therefore,early detection and prompt treatment are of utmost importance in preventing the unwanted sequel of hearing loss.The hearing screening program is mandatory in many nations,especially for high-risk newborns.An automated auditory brainstem response test is used as a screening tool in newborns admitted to the newborn intensive care unit.Moreover,genetic testing and screening for cytomegalovirus in newborns are essential in identifying the cause of hearing loss,particularly,mild and delayed onset types of hearing loss.We aimed to update the knowledge on the various aspects of hearing loss in newborns with regard to the epidemiology,risk factors,causes,screening program,investigations,and different modalities of treatment. | Raid M Al-Ani | 2023 | World Journal of Clinical Pediatrics2023，12，3： | 1 |
| 16 | SURGICAL TREATMENT OF OTITIS MEDIA | LIU Jun | 2012 | Journal of Otology2012，7，2： | 1 |
| 17 | A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family显示文摘To the Editor:Hearing loss is the most common sensory disorder in humans.There is one case of congenital deafness among every 1000 newborns,and in 50%of cases,the deafness is hereditary.Deafness exhibits high genetic heterogeneity.To date,over 110 non-syndromic deafness genes have been identified(https://hereditaryhearingloss.org/).Lots of those genes can cause both autosomaldominant hearing loss(ADNSHL)and autosomal-recessive non-syndromic hearing loss(ARNSHL)andTMC1(encoding the transmembrane channel-like 1)is one of them.TMC1(OMIM:606706)is a member of the TMC family located at 9q21.13.The protein contains 760 amino acids and has six transmembrane regions.TMC1 is expressed in the inner and outer hair cells of the cochlea.A TMC1 mutation was first shown to cause deafness in 2002.[1]The prevalence of TMC1 variants ranged from 3.4%(19/557)among Pakistani ARNSHL families to 8.1%(7/86)in Turkish families.To date,around 20 hearing loss families associated withTMC1 variants have been reported in China. | Beiping Zeng Hongen Xu Yongan Tian Qianyu Lin Haifeng Feng Zhifeng Zhang Siqi Li Wenxue Tang | 2022 | Chinese Medical Journal2022，135，21： | 0 |
| 18 | Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness显示文摘Objective: To investigate the membrane localization function of the CX26 protein when its 86 th amino acid is Thr, Ser or Arg, and its relations to deafness.Methods: CX26-GFP protein with either Thr, Ser or Arg as the 86 th amino acid was expressed in mouse SGN cells via the GFP fusion type lentivirus expression system. The membrane localization of the fusion protein was observed under a fluorescence microscope.Results: The mutated protein of CX26 T86 S was localized to cell membrane and form gap conjunction structures, showing no difference to the wild type CX26 protein(with Thr as the 86 th amino acid). However, the gap conjunction structure disappeared when the mutation was CX26T86 A.Conclusion: These results indicate that the CX26 T86 R mutation may be a cause of hearing loss, but CX26 T86 S as a non-pathogenic polymorphism mutation does not affect functions of the CX26 protein. The results are in accordance with the results of clinical screening. | Xi Shi Shiwei Qiu Fendong Yan Lizhang Shi Yili Xuan Wei Zhuang Yingli Bei Hanli Yao Na Yuan Mingyang Shi Yuehua Qiao | 2016 | Journal of Otology2016，11，2： | 0 |
| 19 | Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10显示文摘Objective To map a mouse deafness gene, identify the underlying mutation and develop a mouse model for human deafness. Methods Genetic linkage cross and genome scan were used to map a novel mutation named hypoplasia of the membranous labyrinth (hml), which causes hearing loss in mutant mice. Results ① hml was mapped on mouse Chr 10 (~43 cM from the centromere) suggests that the homologous human gene is on 12q22-q24, which was defined on the basis of known mouse-human homologies (OMIM, 2004). ② This study has generated 25 polymorphic microsatellite markers, placed 3 known human genes in the correct order in a high-resolution mouse map and narrowed the hml candidate gene region to a 500 kb area. | Belinda S Harris Patricia F Ward-Bailey Roderick T Bronson Muriel T Davisson Kenneth R Johnson | 2004 | Journal of Pharmaceutical Analysis2004，16，1： | 0 |
| 20 | Clinical and Experimental Observation on Treatment of Sensorineural Deafness with Bushen Conger Tablet (补肾聪耳片)显示文摘Objective: To observe the effect of Bushen Conger (BSCE) tablet, a pure Chinese herbal medicine for reinforcing Kidney, removing blood stasis and opening apertures, in treating sensorineural deafness. Methods: Three hundred and ten patients were treated by BSCE tablet and the effects were observed. At the same time the effects of BSCE tablet on hearing, SOD, LPO, etc. were also assayed in guinea pigs. Results: The clinical total effective rate of BSCE tablet was 71.9 %. Animal experiment proved that the drug was effective in preventing and treating toxic deafness induced by aminoglycoside antibiotics. Conclusion: BSCE tablet could cure sensorineural deafness through adjusting the cochlear cyclic neucleotides as well as its SOD level, reducing the LPO level, and raising the thyroid and sexual glandular functions. | 林文森 石志兴 马恩明 陈洁 伍孝先 周文洛 袁洪达 | 1998 | Chinese Journal of Integrative Medicine1998，4，2： | 0 |
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