世界耳鼻咽喉科杂志最新文献

{"title":"Usher syndrome: Genetic diagnosis and current therapeutic approaches","authors":"Beatriz Rocha Cuzzuol, Jonathan Santos Apolonio, Ronaldo Teixeira da Silva Júnior, Lorena Sousa De Carvalho, Luana Kauany de Sá Santos, L. H. Malheiro, Marcel Silva Luz, Mariana Santos Calmon, Henrique de Lima Crivellaro, Fabian Fellipe Bueno Lemos, Fabrício Freire de Melo","doi":"10.5319/wjo.v11.i1.1","DOIUrl":"https://doi.org/10.5319/wjo.v11.i1.1","url":null,"abstract":"Usher Syndrome (USH) is the most common deaf-blind syndrome, affecting approximately 1 in 6000 people in the deaf population. This genetic condition is characterized by a combination of hearing loss (HL), retinitis pigmentosa, and, in some cases, vestibular areflexia. Among the subtypes of USH, USH type 1 is considered the most severe form, presenting profound bilateral congenital deafness, vestibular areflexia, and early onset RP. USH type 2 is the most common form, exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies. Conversely, type 3 is the rarest, initially manifesting mild symptoms during childhood that become more prominent in the first decades of life. The dual impact of USH on both visual and auditory senses significantly impairs patients’ quality of life, restricting their daily activities and interactions with society. To date, 9 genes have been confirmed so far for USH: MYO7A , USH1C , CDH23 , PCDH15 , USH1G , USH2A , ADGRV1 , WHRN and CLRN1 . These genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina, leading to functional loss. Although non-genetic methods can assist in patient triage and disease extension evaluation, genetic and molecular tests play a pivotal role in providing genetic counseling, enabling appropriate gene therapy, and facilitating timely cochlear implantation (CI). The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating USH. Regarding drug therapy, PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in USH. Simultaneously, CI has proven to be critical in the restoration of hearing. This review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in guiding appropriate treatment strategies and improving patient prognosis.","PeriodicalId":71509,"journal":{"name":"世界耳鼻咽喉科杂志","volume":"17 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139612423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>SLC26A4</i> mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.","authors":"Taku Ito, Julie Muskett, Parna Chattaraj, Byung Yoon Choi, Kyu Yup Lee, Christopher K Zalewski, Kelly A King, Xiangming Li, Philine Wangemann, Thomas Shawker, Carmen C Brewer, Seth L Alper, Andrew J Griffith","doi":"10.5319/wjo.v3.i2.26","DOIUrl":"10.5319/wjo.v3.i2.26","url":null,"abstract":"<p><p>Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the <i>SLC26A4</i> gene. However, not all EVA patients have PS or <i>SLC26A4</i> mutations. Two mutant alleles of <i>SLC26A4</i> are detected in ¼ of North American or European EVA populations, one mutant allele is detected in another ¼ of patient populations, and no mutations are detected in the other ½. The presence of two mutant alleles of <i>SLC26A4</i> is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of <i>SLC26A4</i> is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an <i>Slc26a4</i> mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of <i>SLC26A4</i> have a second, undetected mutant allele of <i>SLC26A4</i>, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. <i>SLC26A4</i> mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling.</p>","PeriodicalId":71509,"journal":{"name":"世界耳鼻咽喉科杂志","volume":"3 2","pages":"26-34"},"PeriodicalIF":0.0,"publicationDate":"2013-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423814/pdf/nihms598338.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33292182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}