Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation betwe...Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation between hearing loss and vestibular disorders. Depending on the age onset of hearing loss, it can cause even delay on motor development. Objective: To find literature that demonstrates the relation between hearing and balance. Confirming that hearing loss or even intervention to improve quality of hearing can interfere on vestibular system. Methodology: Revision of literature was carried out, preferring recent research only in English. Conclusion: Cochlea and vestibular systems have a close relationship;changes in one of them can cause big damage in the other. So, a complete evaluation of vestibular system is recommended before ear surgeries. Video Head Impulse Test is a new procedure able to evaluate high frequency movements of the head. It was an additional exam of vestibular status and came to help detect problems that were not diagnosed before. Efforts must be directed in order to protect the balance.展开更多
Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We repo...Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We reported a case of severe skin reactions caused by BAHA implantation. Related literature were also reviewed. Results:We found grade IV skin reactions, including hyperplasia around the implant, which led to the removal of the BAHA implant 10 months after implantation. The findings indicated poor skin hygiene, allergy to titanium and inadequate surgicals skills as the possible causes of the skin reaction. Conclusion: Skin adverse reactions, usually rare in BAHA implantation patients, may cause implant removal and implantation failure. We suggest to further investigate the mechanisms underlying titanium allergy. Copyright ? 2016, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).展开更多
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 resul...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.展开更多
文摘Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation between hearing loss and vestibular disorders. Depending on the age onset of hearing loss, it can cause even delay on motor development. Objective: To find literature that demonstrates the relation between hearing and balance. Confirming that hearing loss or even intervention to improve quality of hearing can interfere on vestibular system. Methodology: Revision of literature was carried out, preferring recent research only in English. Conclusion: Cochlea and vestibular systems have a close relationship;changes in one of them can cause big damage in the other. So, a complete evaluation of vestibular system is recommended before ear surgeries. Video Head Impulse Test is a new procedure able to evaluate high frequency movements of the head. It was an additional exam of vestibular status and came to help detect problems that were not diagnosed before. Efforts must be directed in order to protect the balance.
基金supported by Guangdong Provincial Science and Technology Project:2013B022000046
文摘Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We reported a case of severe skin reactions caused by BAHA implantation. Related literature were also reviewed. Results:We found grade IV skin reactions, including hyperplasia around the implant, which led to the removal of the BAHA implant 10 months after implantation. The findings indicated poor skin hygiene, allergy to titanium and inadequate surgicals skills as the possible causes of the skin reaction. Conclusion: Skin adverse reactions, usually rare in BAHA implantation patients, may cause implant removal and implantation failure. We suggest to further investigate the mechanisms underlying titanium allergy. Copyright ? 2016, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
基金supported by the National Natural Science Foundation of China(NSFC)(Nos.82001221 and 81788101)the National Key Research and Development Program of China(Nos.2022YFC2703900 and 2022YFC2703903)the CAMS Innovation Fund for Medical Sciences(CIFMS)(Nos.2021-I2M-1-018,2022-I2M-JB-004 and 2017-I2M-B&R-05).
文摘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.
