Deafness

耳聋
  • 文章类型: Journal Article
    背景:从视觉上获得的感官信息,体感,前庭系统负责调节姿势控制,如果这些感觉系统中的一个或多个发生损伤,姿势控制可能会改变。
    目的:评估和比较听力正常和感觉神经性听力损失(SNHL)儿童的姿势摇摆速度,按性别和年龄组相匹配,比较听力正常儿童和SNHL儿童的姿势摇摆速度,有和没有前庭功能障碍。
    方法:横断面研究评估了130名儿童(65名听力正常,65名SNHL),男女年龄在7至11岁之间,卡鲁鲁市的公立学校,伯南布哥州,巴西。通过力平台评估压力中心(COP)的姿势摇摆速度,在两个方向上,前外侧(AP)和中外侧(ML),在三个位置,即双足支撑与脚在一起和平行(平行脚(PF)),双足支撑,一只脚在另一只脚前面(串联脚(TF)),和单腿支撑(一只脚(OF)),用睁开眼睛和闭眼睛进行评估。
    结果:在评估的所有位置,与听力正常的儿童相比,SNHL儿童表现出更大的姿势摇摆速度,在AP方向上存在显著差异,睁开眼睛(PF:p=0.001;TF:p=0.000;OF:p=0.003)和闭合(PF:p=0.050;TF:p=0.005)。同样发生在ML方向,睁开眼睛(PF:p=0.001;TF:p=0.000;OF:p=0.001)和闭合(PF:p=0.002;TF:p=0.000)。前庭功能也发生了同样的情况,在评估的所有位置中,与听力正常的儿童相比,患有SNHL并伴有前庭功能障碍的儿童表现出更大的姿势摇摆速度,表明AP方向存在显著差异,睁开眼睛(TF:p=0.001;OF:p=0.029)和闭眼(PF:p=0.036;TF:p=0.033)。同样发生在ML方向,睁开眼睛(TF:p=0.000)和闭眼(PF:p=0.008;TF:p=0.009)。
    结论:在评估的所有方向上,SNHL患儿的姿势控制比听力正常的患儿更不稳定。在这项研究中,患有SNHL和相关前庭功能障碍的儿童表现出姿势控制的最大不稳定性。
    BACKGROUND: Sensory information obtained from the visual, somatosensory, and vestibular systems is responsible for regulating postural control, and if damage occurs in one or more of these sensory systems, postural control may be altered.
    OBJECTIVE: To evaluate and compare the postural sway velocity between children with normal hearing and with sensorineural hearing loss (SNHL), matched by sex and age group, and to compare the postural sway velocity between children with normal hearing and with SNHL, with and without vestibular dysfunction.
    METHODS: Cross-sectional study that evaluated 130 children (65 with normal hearing and 65 with SNHL), of both sexes and aged between 7 and 11 years, from public schools of the city of Caruaru, Pernambuco state, Brazil. The postural sway velocity of the center of pressure (COP) was assessed by a force platform, in two directions, anteroposterior (AP) and mediolateral (ML)), in three positions, namely bipedal support with feet together and parallel (parallel feet (PF)), bipedal support with one foot in front of the other (tandem foot (TF)), and single-leg support (one foot (OF)), evaluated with the eyes open and closed.
    RESULTS: Children with SNHL demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, with significant differences in the AP direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.003) and closed (PF: p = 0.050; TF: p = 0.005). The same occurred in the ML direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.001) and closed (PF: p = 0.002; TF: p = 0.000). The same occurred in relation to vestibular function, where the children with SNHL with an associated vestibular dysfunction demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, demonstrating significant differences in the AP direction, with the eyes open (TF: p = 0.001; OF: p = 0.029) and eyes closed (PF: p = 0.036; TF: p = 0.033). The same occurred in the ML direction, with the eyes open (TF: p = 0.000) and with the eyes closed (PF: p = 0.008; TF: p = 0.009).
    CONCLUSIONS: Children with SNHL demonstrated greater instability of postural control than children with normal hearing in all the directions assessed. Children with SNHL and an associated vestibular dysfunction demonstrated the greatest instability of postural control in this study.
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  • 文章类型: Journal Article
    线粒体DNA(mtDNA)1555A>G中的单核苷酸变体与药物诱导的听力损失有关。对于1555A>G突变位点,构建了1555A野生型和1555G突变型质粒,分别。在这项研究中,提出了一种基于TaqMan扩增难治性突变系统的PCR方法来检测mtDNA1555A>G。常见的上游引物,一个普通的TaqMan探测器,并设计了两个具有错配碱基的下游等位基因特异性引物。通过两个反应实现了耳聋相关基因1555位点野生型和突变型的一步扩增和检测。基于这种检测方法,野生型和突变型质粒检测系统的最低检测限为50拷贝/μL.在真实干血斑(DBS)样品中检测核酸的最小灵敏度为0.1ng/μL。在正常的DBSDNA样本中,突变丰度的检测限达到0.78%。检测方法的特异性为100%,变异系数小于3.36%。使用从113例新生儿DBS样品中提取的临床DNA验证了该方法。此外,它显示与双向Sanger测序100%一致。可作为临床检测耳聋相关基因的一种可选方法。
    A single nucleotide variant in mitochondrial DNA (mtDNA) 1555A>G is associated with drug-induced hearing loss. For the 1555A>G mutation site, 1555A wild-type and 1555G mutant-type plasmids were constructed, respectively. In this study, a PCR method based on the TaqMan amplification refractory mutation system was proposed to detect mtDNA 1555A>G. A common upstream primer, a common TaqMan probe, and two downstream allele-specific primers with mismatched bases were designed. One-step amplification and detection of the wild-type and mutant type at the 1555 site were realized for the deafness-related gene through two reactions. Based on this detection method, the minimum detection limit of the wild-type and mutant type detection systems for plasmids was 50 copies/μL. The minimum sensitivity for the detection of nucleic acids in real dried blood spot (DBS) samples was 0.1 ng/μL. In the normal DBS DNA sample, the detection limit of the mutation abundance reached 0.78%. The specificity of the detection method was 100%, and the coefficient of variation was less than 3.36%. This approach was validated using clinical DNA extracted from 113 DBS samples of newborns. Additionally, it showed 100% agreement with bi-directional Sanger sequencing. It can be used as an optional method for the clinical detection of deafness-related genes.
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    文章类型: Journal Article
    Koragas,被印度政府确认为特别脆弱的部落群体(PVTG),来自沿海卡纳塔克邦和喀拉拉邦。他们正在经历严重的社会经济和健康相关问题,人口迅速减少。Koragas的独特基因组成通过内婚实践得以维持。我们旨在确定可能与Koragas对遗传和多因素疾病的易感性相关的遗传因素。我们采用了在InfiniumGlobalScreeningArray-24v3.0BeadChip平台上进行基因分型的29个Koraga个体的基因组数据,并进行了各种群体遗传分析,包括亲属关系。血统身份(IBD),和纯合性(RoH)的运行。Koraga参与者之间高度的单倍型共享可能表明最近的创始人事件。我们确定了与几种遗传疾病相关的遗传变异和基因,婴儿死亡率较高,神经系统疾病,耳聋,这个农业部落的生育率较低。我们是对Koraga部落进行的第一项全基因组研究,该研究确定了与各种遗传疾病相关的遗传因素。我们的发现可以为公共医疗保健提供者提供必要的遗传信息,这些信息可用于增强医疗和医疗保健服务并改善Koragas的生活质量。
    Koragas, recognized as a particularly vulnerable tribal group (PVTG) by the Government of India, are from coastal Karnataka and Kerala. They are experiencing severe socioeconomic and health-related issues and rapid depopulation. The unique genetic makeup of Koragas has been maintained by the practice of endogamy. We aimed to identify genetic factors potentially associated with the predisposition of Koragas towards genetic and multifactorial disorders. We employed genome-wise data of 29 Koraga individuals genotyped on the Infinium Global Screening Array-24 v3.0 BeadChip platform and performed various population genetic analyses including kinship, identity by descent (IBD), and runs of homozygosity (RoH). A high degree of haplotype sharing among the Koraga participants may be indicative of a recent founder event. We identified genetic variants and genes associated with several genetic disorders, higher infant mortality rate, neurological disorders, deafness, and lower fertility rate of this agrarian tribe. Ours is the first genome-wide study on the Koraga tribe that identified genetic factors associated with various genetic disorders. Our findings can provide public healthcare providers with essential genetic information that can be useful in augmenting medical and healthcare services and improving the quality of life of Koragas.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    听力障碍是人类最普遍的感觉疾病,可以对发育产生巨大影响,和保存,我们的认知能力和社交互动。目前,世界上20%的人口患有某种形式的听力障碍;预计到2050年,这一比例将上升到25%。尽管有如此惊人的疾病负担,以及它对社会造成的巨大破坏,人类的医疗和经济结构,我们的预测能力,或防止,听力损失确实非常差。我们在这里提出了我们研究耳聋方法的范式转变。通过在形态不同的模型中更有力地利用人类听觉和听觉之间的分子遗传保守性,比如果蝇果蝇,我们相信,可以对听力和耳聋有更深入的了解。一种超越“耳聋基因”表面的理解,以探测听力的潜在基石,它在整个类群中共享,并部分跨模式共享。当谈到了解人类感官功能的运作(和故障)时,简单的果蝇可以提供很多东西,而苍蝇眼有时可能是人耳的强大模型。特别是使用飞行化身,其中人类(例如特定患者)的特定分子(遗传或蛋白质组)状态通过实验复制,为了在受控而自然的环境中研究相应的分子机制(例如特定疾病),是一种承诺多种前所未有的见解的工具。使用苍蝇-和飞行化身-将使人类受益,并有助于增强其他科学模型的功能,比如老鼠。
    Hearing impairment is the most prevalent sensory disease in humans and can have dramatic effects on the development, and preservation, of our cognitive abilities and social interactions. Currently 20 % of the world\'s population suffer from a form of hearing impairment; this is predicted to rise to 25 % by 2050. Despite this staggering disease load, and the vast damage it inflicts on the social, medical and economic fabric of humankind, our ability to predict, or prevent, the loss of hearing is very poor indeed. We here make the case for a paradigm shift in our approach to studying deafness. By exploiting more forcefully the molecular-genetic conservation between human hearing and hearing in morphologically distinct models, such as the fruit fly Drosophila melanogaster, we believe, a deeper understanding of hearing and deafness can be achieved. An understanding that moves beyond the surface of the \'deafness genes\' to probe the underlying bedrock of hearing, which is shared across taxa, and partly shared across modalities. When it comes to understanding the workings (and failings) of human sensory function, a simple fruit fly has a lot to offer and a fly eye might sometimes be a powerful model for a human ear. Particularly the use of fly avatars, in which specific molecular (genetic or proteomic) states of humans (e.g. specific patients) are experimentally reproduced, in order to study the corresponding molecular mechanisms (e.g. specific diseases) in a controlled yet naturalistic environment, is a tool that promises multiple unprecedented insights. The use of the fly - and fly avatars - would benefit humans and will help enhance the power of other scientific models, such as the mouse.
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  • 文章类型: Journal Article
    This text presents the partial results of ongoing research into deafness in history teaching and historiography between 2015 and 2022. The study problematizes the place of disabled people in top-ranking periodicals (the top two categories in Brazil) and in pedagogical projects on degree courses in history (with and without teacher-training certification) at the University of São Paulo and the State University of Campinas. These universities were chosen because they topped the ranking in a survey conducted by Folha de S.Paulo newspaper. The study observes how the Brazilian Inclusion Law (law 13.146, of July 6, 2015) is incorporated into the initial training of these professionals.
    O texto aponta resultados parciais de uma pesquisa em andamento sobre a surdez no ensino de história e na produção historiográfica entre 2015 e 2022. O trabalho problematiza o lugar da pessoa com deficiência nos periódicos A1 e A2 e nos projetos pedagógicos de cursos de graduação em história (formação de professores e pesquisadores) da Universidade de São Paulo e da Universidade Estadual de Campinas, por conta de serem indicadas como as mais bem posicionadas no ranking de uma pesquisa realizada pela Folha de S.Paulo, levando-se em conta os critérios de articulação entre a Lei Brasileira de Inclusão, lei 13.146, de 6 de julho de 2015, e a formação inicial desses profissionais.
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  • 文章类型: Journal Article
    据报道,动物辅助服务的积极成果引起了人们对人类与动物互动的许多不同方面的兴趣。辅助动物的影响被认为包括具有严重健康损害的人的生活中的几个心理社会领域。然而,人们对听力犬与其主人之间关系的潜在机制知之甚少。使用书面问卷方法进行的前瞻性研究设计用于调查58名当前和23名未来的澳大利亚狮子听力犬的主人。宠物期望清单(PEI)用于调查听力犬在听力损失/耳聋的候补名单中的预期作用,而列克星敦宠物依恋量表(LAPS)是由当前所有者完成的,以评估情感依恋。结果显示平均PEI得分较高(M=73.1,SD=10.9,Mdn=73.0,范围:55-91),与潜在的业主强烈期望听力狗的角色包括陪伴/爱和安全。此外,强烈的依恋特征在业主与听力犬的关系中很明显,如高总LAPS评分(M=81.2,SD=7.5,范围:63-91)所示。“人员替代”类别中的陈述的平均得分最高(范围=3.6/4.00-3.9/4.00)。在这个人口统计学上同质的研究队列中,看来,潜在的听力犬主人对其动物的支持作用超出听力援助的高期望应该是可以实现的,听力狗和它们的主人之间表现出的强烈的依恋关系证明了这一点。
    The reported positive outcomes of animal-assisted services have led to an emerging interest in many different aspects of human-animal interactions. The influence of an assistance animal is thought to encompass several psychosocial domains in the life of a person with a significant health impairment. However, little is known about the mechanisms underlying the relationship between Hearing Dogs and their owners. A prospective study design using a written questionnaire method was utilized to survey 58 current and 23 prospective Australian Lions Hearing Dogs owners. The Pet Expectations Inventory (PEI) was used to investigate the anticipated role of Hearing Dogs in waitlisted persons with hearing loss/Deafness, whereas the Lexington Attachment to Pets Scale (LAPS) was completed by current owners to assess emotional attachment. The results revealed a high mean PEI score (M = 73.1, SD = 10.9, Mdn = 73.0, range: 55-91), with prospective owners strongly expecting the role of Hearing Dogs to include companionship/love and security. Furthermore, strong attachment features were evident in the owners\' relationships with Hearing Dogs, as demonstrated by a high total LAPS score (M = 81.2, SD = 7.5, range: 63-91). Mean scores for statements within the \"people substitution\" category were highest (range = 3.6/4.00-3.9/4.00). In this demographically homogenous study cohort, it appeared that the high expectations of potential Hearing Dog owners for their animals to serve supportive roles beyond hearing assistance should be achievable, as evidenced by the strong attachment relationships displayed between Hearing Dogs and their owners.
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  • 文章类型: Journal Article
    而光谱分辨率之间的关系,时间分辨率,在有人工耳蜗(CI)的成年人中,语音识别得到了很好的定义,对于使用CI的语言前耳聋的儿童,它们没有很好的定义,正在进行语言开发的人。这项横断面研究旨在通过全面测量光谱分辨率阈值(通过光谱调制检测测量),更好地表征大量语前耳聋儿童与CI(N=47;平均年龄=8.33岁)的这些关系,时间分辨率阈值(通过正弦幅度调制检测测量),和语音识别(通过单音节单词识别测量,元音识别,并通过固定的信噪比(SNR)和自适应变化的SNR在噪声中进行句子识别)。结果表明,对于有CI的儿童,在安静或噪声中,频谱或时间分辨率与语音识别均无明显相关性。年龄和CI经验对光谱分辨率都有中等影响,在0.5cyc/oct的调制速率下对光谱调制检测具有显著影响,表明光谱分辨率可能会随着成熟而提高。因此,对于有CI的儿童,随着时间的推移,我们可能会看到频谱分辨率和语音感知之间正在出现的关系。虽然有必要对这种关系进行进一步调查,这些研究结果表明,需要进行新的研究,以发现改善CI患儿光谱分辨率的方法.
    While the relationships between spectral resolution, temporal resolution, and speech recognition are well defined in adults with cochlear implants (CIs), they are not well defined for prelingually deafened children with CIs, for whom language development is ongoing. This cross-sectional study aimed to better characterize these relationships in a large cohort of prelingually deafened children with CIs (N = 47; mean age = 8.33 years) by comprehensively measuring spectral resolution thresholds (measured via spectral modulation detection), temporal resolution thresholds (measured via sinusoidal amplitude modulation detection), and speech recognition (measured via monosyllabic word recognition, vowel recognition, and sentence recognition in noise via both fixed signal-to-noise ratio (SNR) and adaptively varied SNR). Results indicated that neither spectral or temporal resolution were significantly correlated with speech recognition in quiet or noise for children with CIs. Both age and CI experience had a moderate effect on spectral resolution, with significant effects for spectral modulation detection at a modulation rate of 0.5 cyc/oct, suggesting spectral resolution may improve with maturation. Thus, it is possible we may see an emerging relationship between spectral resolution and speech perception over time for children with CIs. While further investigation into this relationship is warranted, these findings demonstrate the need for new investigations to uncover ways of improving spectral resolution for children with CIs.
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  • 文章类型: Journal Article
    儿童人工耳蜗植入后的口语发育需要快速高效的处理,退化的听觉信号和语言信息。这些对快速适应的要求降低了接受人工耳蜗植入的儿童的信息处理速度能力。这项研究调查了4-6岁的语前聋儿童人工耳蜗植入后信息处理能力的速度与口语结果的关系。两个领域-一般(视觉,对21名植入人工耳蜗的学龄前儿童和23名听力正常的同龄人进行了非语言)信息处理速度测量。语音识别的措施,语言(词汇和理解),非语言智力,和执行功能技能也从每个参与者获得。在植入人工耳蜗的学龄前儿童中,信息处理速度与语音识别和语言技能呈正相关,而在听力正常的同龄人中则不相关。在控制听力组后,这种关联仍然显著,年龄,非语言智力,和执行功能技能。这些发现与模型一致,这些模型表明,快速高效的信息处理速度是适应植入后的语音感知和语言学习的基础。以信息处理速度为目标的评估和干预策略可以更好地理解和发展人工耳蜗植入后的语言技能。
    Spoken language development after pediatric cochlear implantation requires rapid and efficient processing of novel, degraded auditory signals and linguistic information. These demands for rapid adaptation tax the information processing speed ability of children who receive cochlear implants. This study investigated the association of speed of information processing ability with spoken language outcomes after cochlear implantation in prelingually deaf children aged 4-6 years. Two domain-general (visual, non-linguistic) speed of information processing measures were administered to 21 preschool-aged children with cochlear implants and 23 normal-hearing peers. Measures of speech recognition, language (vocabulary and comprehension), nonverbal intelligence, and executive functioning skills were also obtained from each participant. Speed of information processing was positively associated with speech recognition and language skills in preschool-aged children with cochlear implants but not in normal-hearing peers. This association remained significant after controlling for hearing group, age, nonverbal intelligence, and executive functioning skills. These findings are consistent with models suggesting that domain-general, fast-efficient information processing speed underlies adaptation to speech perception and language learning following implantation. Assessment and intervention strategies targeting speed of information processing may provide better understanding and development of speech-language skills after cochlear implantation.
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  • 文章类型: Journal Article
    这项多中心研究检查了9至11个月大的儿童人工耳蜗植入的安全性和有效性。预期的影响是支持有关儿科人工耳蜗候选人的候选人资格评估和预后咨询的实践。分析中包括了在美国和加拿大的五个人工耳蜗植入中心使用人工耳蜗有限公司设备在9-11个月大的儿童的临床图表中的数据。该研究包括2012年1月1日至2017年12月31日(队列1,n=83)或2018年1月1日至2020年5月15日(队列2,n=50)期间植入一个或两个Nucleus设备的两个队列的数据。监测植入后2年内的主要不良事件(需要另一次手术/住院治疗)和次要不良事件(单独使用药物治疗或接受不需要手术或住院的预期疗程),并通过听力测定阈值和父母报告来衡量结果收集IT-MAIS和LittlEARS问卷。结果显示,41名儿童发生了60起不良事件,植入了227只耳朵(26%),其中11名儿童发生了14起主要事件;所有事件都是暂时的并已解决。所有结果指标均显示使用人工耳蜗改善听力。研究结果表明,该程序对婴儿是安全的,并且它们显示出人工耳蜗植入的明显益处,包括增加的听觉和听力发育。
    This multi-center study examined the safety and effectiveness of cochlear implantation of children between 9 and 11 months of age. The intended impact was to support practice regarding candidacy assessment and prognostic counseling of pediatric cochlear implant candidates. Data in the clinical chart of children implanted at 9-11 months of age with Cochlear Ltd devices at five cochlear implant centers in the United States and Canada were included in analyses. The study included data from two cohorts implanted with one or two Nucleus devices during the periods of January 1, 2012-December 31, 2017 (Cohort 1, n = 83) or between January 1, 2018 and May 15, 2020 (Cohort 2, n = 50). Major adverse events (requiring another procedure/hospitalization) and minor adverse events (managed with medication alone or underwent an expected course of treatment that did not require surgery or hospitalization) out to 2 years post-implant were monitored and outcomes measured by audiometric thresholds and parent-reports on the IT-MAIS and LittlEARS questionnaires were collected. Results revealed 60 adverse events in 41 children and 227 ears implanted (26%) of which 14 major events occurred in 11 children; all were transitory and resolved. Improved hearing with cochlear implant use was shown in all outcome measures. Findings reveal that the procedure is safe for infants and that they show clear benefits of cochlear implantation including increased audibility and hearing development.
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