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Novel m.4268T>C mutation in the mitochondrial tRNA^(Ile) gene is associated with hearing loss in two Chinese families

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World Journal of Clinical Cases 2022年第1期10卷 205-216页

作者： Li-Jing Zhao Zhi-Li Zhang Yong Fu Department of Otorhinolaryngology Head and Neck Surgery The Second Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina Department of Otorhinolaryngology Head and Neck Surgery The First Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina Department of Otorhinolaryngology Head and Neck Surgery The Children’s HospitalZhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina

BACKGROUND Herein,we report the genetic,clinical,molecular and biochemical features of two Han Chinese pedigrees with suggested maternally transmitted non-syndromic hearing loss.AIM To investigate the pathophysiology of hearing loss associated with mitochondrial tRNA mutations.METHODS Sixteen subjects from two Chinese families with hearing loss underwent clinical,genetic,molecular,and biochemical evaluations.Biochemical characterizations included the measurements of tRNA levels using lymphoblastoid cell lines derived from five affected matrilineal relatives of these families and three control subjects.RESULTS Three of the 16 matrilineal relatives in these families exhibited a variable seriousness and age-at-onset(8 years)of deafness.Analysis of mtDNA mutation identified the novel homoplasmic tRNA^(Ile) 4268T>C mutation in two families both belonging to haplogroup D4j.The 4268T>C mutation is located in a highly conserved base pairing(6U–67A)of tRNA^(Ile).The elimination of 6U–67A basepairing may change the tRNA^(Ile) metabolism.Functional mutation was supported by an approximately 64.6%reduction in the level of tRNA^(Ile) observed in the lymphoblastoid cell lines with the 4268T>C mutation,in contrast to the wild-type cell lines.The reduced level of tRNA was below the proposed threshold for normal respiration in lymphoblastoid cells.However,genotyping analysis did not detect any mutations in the prominent deafness-causing gene GJB2 in any members of the family.CONCLUSION These data show that the novel tRNA^(Ile) 4268T>C mutation was involved in maternally transmitted deafness.However,epigenetic,other genetic,or environmental factors may be attributed to the phenotypic variability.These findings will be useful for understanding families with maternally inherited deafness.

关键词： Mitochondrial tRNA Mutation hearing loss Chinese Pathophysiology Mitochondrion

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Brucellosis presenting with pancytopenia and hearing loss:A case report

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World Journal of Clinical Cases 2023年第21期11卷 5187-5192页

作者： Xing Chen Feng-Bo Yang Jian-Ying Liang Department of Infection Nanchong Central HospitalNanchong 637000Sichuan ProvinceChina Department of Otolaryngology Affiliated Hospital of North Sichuan Medical CollegeNanchong 637000Sichuan ProvinceChina

BACKGROUND Brucellosis is one of the most common zoonotic infectious diseases in the world,with approximately 500000 new cases of human brucellosis diagnosed each year.Brucellosis can simulate various multi-system diseases,presenting atypical symptoms.Very few brucellosis cases with pancytopenia accompanied by a severe hearing loss have been reported.In the literature review,we could find only one similar case reported in the past.Moreover,this disease is easily misdiagnosed as a blood system disease leading to delayed treatment.Thus,it is important to improve clinicians'awareness of this disease.CASE SUMMARY A 64-year-old woman presented with dizziness and fatigue,accompanied by pancytopenia and severe hearing loss.Brucella melitensis was identified on blood culture.Anti-infective therapy with rifampicin(900 mg/d)and doxycycline(100 mg twice a day)was prescribed for 4 mo along with ceftriaxone 2 g/d for 1 mo.The patient showed a good response to antibiotic therapy.Her blood counts returned to normal followed by significant improvement in hearing.CONCLUSION Brucellosis should be considered in the differential diagnosis of patients presenting with pancytopenia and hearing loss.

关键词： Brucellosis Pancytopenia hearing loss Neurobrucellosis Case report

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Effect of N-acetyl-cysteine treatment on sensorineural hearing loss: a meta-analysis

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World Journal of Otorhinolaryngology-Head and Neck Surgery 2022年第3期8卷 205-212页

作者： Xue Bai Miao Wang Xun Niu Hong Yu Jian-Xin Yue Yu Sun Department of Otorhinolaryngology Union HospitalTongji Medical CollegeHuazhong University of Scienceand TechnologyWuhan430022China

N-acetyl-cysteine (NAC) is an efficacious treatment for sensorineural hearing loss in animal models, such as noise-induced hearing loss (NIHL), however previous research into the effect of NAC on patients with hearing loss produced contradictory results. In this study, we investigated the effect of NAC treatment on sensorineural hearing loss. PubMed, Web of Science and Embase databases were searched in their entirety using the key words: hearing loss, NAC, N-acetylcysteine, and sensorineural hearing loss. Studies which included assessment of hearing loss with pure-tone threshold (PTA) data were selected. Eligible studies regarding the effects of NAC treatment on patients with hearing loss were collected by two independent reviewers. A total of 1197 individuals were included from seven published studies. Two studies reported data for a sudden idiopathic sensorineural hearing loss (SISNHL) group. Three studies reported data for a NIHL group. Other studies reported data for drug-induced hearing loss. The meta-analysis demonstrated that the overall effect of NAC treatment on sensorineural hearing loss was invalid. However, NAC treatment was linked with improved patient outcomes of hearing tests in cases of sudden hearing loss, but did not prevent hearing loss induced by noise or ototoxicity. However, there is a need for better-designed studies with larger samples to further prove the correlation between the effect of NAC and hearing loss.

关键词： hearing loss Meta-analysis N-acetyl-cysteine

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Various aspects of hearing loss in newborns:A narrative review

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World Journal of Clinical Pediatrics 2023年第3期12卷 86-96页

作者： Raid M Al-Ani Department of Surgery/Otolaryngology University of AnbarCollege of MedicineRamadi 31001AnbarIraq

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.

关键词： Newborns hearing loss Deafness Sensorineural

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Stem Cell-Based Hair Cell Regeneration and Therapy in the Inner Ear

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Neuroscience Bulletin 2024年第1期40卷 113-126页

作者： Jieyu Qi Wenjuan Huang Yicheng Lu Xuehan Yang Yinyi Zhou Tian Chen Xiaohan Wang Yafeng Yu Jia-Qiang Sun Renjie Chai State Key Laboratory of Digital Medical Engineering Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyAdvanced Institute for Life and HealthJiangsu Province High-Tech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjing 210096China Hospital of Southeast University Nanjing 210096China First Affiliated Hospital of Soochow University Suzhou 215006China Department of Otolaryngology-Head and Neck Surgery The First Affliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China Department of Otolaryngology Head and Neck Surgery Sichuan Provincial People's HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Co-Innovation Center of Neuroregeneration Nantong UniversityNantong 226001China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijing 100101China

hearing loss has become increasingly prevalent and causes considerable disability,thus gravely burdening the global economy.Irreversible loss of hair cells is a main cause of sensorineural hearing loss,and currently,the only relatively effective clinical treatments are limited to digital hearing equipment like cochlear implants and hearing aids,but these are of limited benefit in patients.It is therefore urgent to understand the mechanisms of damage repair in order to develop new neuroprotective strategies.At present,how to promote the regeneration of functional hair cells is a key scientific question in the field of hearing research.Multi-ple signaling pathways and transcriptional factors trigger the activation of hair cell progenitors and ensure the maturation of newborn hair cells,and in this article,we first review the principal mechanisms underlying hair cell reproduction.We then further discuss therapeutic strategies involving the co-regulation of multiple signaling pathways in order to induce effective functional hair cell regeneration after degeneration,and we summarize current achievements in hair cell regeneration.Lastly,we discuss potential future approaches,such as small molecule drugs and gene therapy,which might be applied for regenerating functional hair cells in the clinic.

关键词： hearing loss Cochlea-Stem cell Hair cell regeneration

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5

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Frontiers of Medicine 2024年第1期18卷 81-97页

作者： Liwei Sun Xueting Yang Amjad Khan Xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang Sun Rongrong Wang Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory for Complex Severe and Rare DiseasesInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing100005China Chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineNational Key Clinical Speciality Construction Project(Obstetrics and Gynecology)Chongqing Health Center for Women and ChildrenChongqing400013China Chongqing Clinical Research Center for Reproductive Medicine Women and Children’s Hospital of Chongqing Medical UniversityChongqing400013China Faculty of Biological Sciences Department of ZoologyUniversity of Lakki MarwatKhyber Pakhtunkhwa28420Pakistan Institute for Medical Genetics and Applied Genomics University of TübingenTübingen72076Germany Alexander von Humboldt fellowship Foundation Berlin10117Germany Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Department of Laboratory Medicine State Key Laboratory for Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation.Here,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and deafness.Homozygosity mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,p.Trp90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,p.Leu84^(*))were identified.A Tmem141^(p.Trp90^(*)/p.Trp90^(*))mouse model was generated.Behavioral studies showed impairments in learning ability and motor coordination.Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells.Transmission electron microscopy showed abnormal mitochondrial morphology.Furthermore,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model.Conclusively,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in patient.Notably,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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Universal newborn hearing screening program in Saudi Arabia: Current insight

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Journal of Otology 2024年第1期19卷 35-39页

作者： Noura Alothman Reem Elbeltagy Reem Mulla Department of Health Communication Sciences College of Health and Rehabilitation SciencesPrincess Nourah bint Abdulrahman UniversityRiyadhSaudi Arabia Audiovestibular Medicine Ear-Nose-Throat DepartmentFaculty of MedicineZagazig UniversityZagazigEgypt Department of hearing Speech and Language SciencesGallaudet UniversityWashingtonDCUSA

Newborn hearing screening(NHS) programs are essential to identify hearing loss early in life and to improve outcomes in children. In Saudi Arabia, the national NHS program has been operational since 2016;however, few studies have evaluated its status, and none have covered all provinces across the country. This cross-sectional retrospective study provides an overview of the program's status across all provinces, focusing on screening coverage rates, referral/fail rates, and follow-up procedures. In 2021, 199,034 newborns were screened, with a coverage rate of 92.6% and an overall referral/fail rate of 1.87%. These performance measures provide a foundation for future progress and improvements. This study highlights the importance of ongoing efforts to enhance the program's effectiveness and sustainability.

关键词： hearing screening hearing loss Newborn Auditory brainstem response Saudi Arabia

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Causal Variants of the GJB6 Gene are Associated with hearing loss and Skin Manifestations:A Case Report from Turkey

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International Journal of Dermatology and Venereology 2022年第3期5卷 166-168页

作者： Neslihan Duzkale Gamze Tas Aygar Kemal Keseroglu Murad Mutlu Mehmet Birol Ugur Department of Medical Genetic Diskapi Yildirim Beyazit Training and Research HospitalAltindagAnkara 06110Turkey Department of Dermatology Diskapi Yildirim Beyazit Training and Research HospitalAnkaraTurkey Department of Otorhinolaryngology Diskapi Yildirim Beyazit Training and Research HospitalAnkaraTurkey Department of Otorhinolaryngology Gazi UniversitySchool of MedicineBestepeAnkaraTurkey

Introduction:The gap junction beta 6(GJB6)gene encodes connexin 30.This protein plays critical role in tissues and is responsible for the formation of gap junctions,which have a wide variety of physiological functions.Disease-associated variants of GJB6 cause non-syndromic hearing loss(HL)and skin lesions.We herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of GJB6.Case presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old.Apart from this,the patient’s motor/mental development and physical examination were normal.As a result of the analysis with the multi-gene panel,the causative genomic change,c.175G>A(p.Gly59Arg)in the GJB6 gene was determined as heterozygous.Segregation analysis proved the same genotype in the patient’s mother and grandfather.The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype.The patient was diagnosed with Clouston syndrome,and genetic counseling was provided to her family.Discussion:Causal variants of GJB6 cause skin manifestations and signs of HL.Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.Conclusion:In syndromic cases in which many organs are affected,the determination of the causative gene is important in directing the patients to appropriate observation,screening,and treatment strategies.

关键词： hearing loss GJB6 palmoplantar keratoderma Clouston syndrome

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hearing loss in Lassa Fever: A Systematic Review

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Open Journal of Preventive Medicine 2022年第11期12卷 239-247页

作者： Ethel Nkechi Chime Peter Ekpunobi Chime Jones Ndubuisi Nwosu Department of Otorhinolaryngology University of Nigeria Teaching Hospital Ituku-Ozalla Nigeria Department of Otorhinolaryngology Enugu State University of Science and Technology Teaching Hospital Parklane Nigeria Department of Medicine Enugu State University of Science and Technology Teaching Hospital Parklane Nigeria

Background: Lassa fever is a viral haemorrhagic fever associated with several complications which include hearing loss. hearing loss in Lassa fever may become residual with its negative impact on the quality of life. Purpose: This paper is a review of various studies on Lassa fever related hearing loss. Methods: Systematic literature review was done on articles on Lassa fever patients and Lassa fever survivors. Relevant articles published in English between 1969 and 2021 were searched for using Google Scholar and PubMed databases. Eight studies which met the inclusion criteria were finally selected and included in the review. The variables of interest were extracted from the full-text articles. Results: Lassa fever related hearing loss occurs in both sexes and in all age groups. The incidence of self-reported hearing loss ranged from 12.5% to 30% with a mean of 17.6%. The incidence of audiometrically determined sensorineural hearing loss ranged from 13.5% to 29% with a mean of 22.1%. hearing loss persisted in 64% of those that were followed up. Cases of hearing loss varied in severity, ranging from mild to profound. No successful specific treatment for Lassa fever related hearing loss was reported apart from hearing rehabilitation. Conclusion: hearing loss among Lassa fever patients remains a major challenge. Lack of effective treatment for Lassa fever related hearing loss is a serious gap in the management of Lassa fever patients which should be addressed in future research.

关键词： hearing loss hearing Impairment Lassa Fever

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hearing loss among Grain Millers in the Informal Sector in Benin

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Occupational Diseases and Environmental Medicine 2022年第1期10卷 35-47页

作者： Mênonli Adjobimey Antoine Vikkey Hinson Rose Mikponhoué Eyidi M. Madeleine Concheta Tchibozo Esdras Hountohotegbe Paul Ayélo Research and Education Unit in Occupational Health and Environment FSS Cotonou Benin Occupational Health Service of the National University Hospital of Pneumo-Phtisiology of Cotonou Cotonou Benin Laboratory of Epidemiology of Chronic and Neurological Diseases FSS Cotonou Benin

Introduction: Noise-induced hearing loss is a preventable health problem worldwide. However, it continues to affect workers especially in the informal sector, due to the lack of medical and environmental monitoring. In Benin, millers are highly exposed. The objective of the study was to assess the hearing health situation of grain millers in the Dantokpa market in 2020. Methods: This was a cross-sectional study that included by exhaustive recruitment 57 millers. The data were collected using a standardized questionnaire followed by blood pressure measurements, noise levels and the performance of audiometries. Descriptive and univariate analysis was performed. Results: The sample consisted only of men. The median age was 25 years with extremes of 18 and 50 years. Noise levels at the workstation ≥ 85 dB (A) were obtained for 94.74% of the workers. No worker was wearing hearing protection equipment. The prevalence of hearing loss was 87.72% (95% CI = [76.32%;94.92%]) and that of occupational deafness was 29.82% (95% CI = [18.43% - 43.40%]) which was associated with age over 28 and high blood pressure. An awareness campaign with donation of hearing pads was carried out. Conclusion: hearing loss is important among millers who do not benefit from any supervision because they are in the informal sector. A restructuring of this sector is necessary for the hearing health of workers.

关键词： Noise hearing loss Blood Pressure Millers Benin

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