DEAF-MUTISM

DEAF - Multism
  • 文章类型: Journal Article
    背景:已知吸收不良综合征是减肥手术的慢性并发症。因此,建议口服补充多种维生素。Wernicke脑病代表与酒精中毒或严重营养不良相关的急性神经精神综合征;文献中描述了与减肥手术相关的这种潜在并发症的散发性病例。我们介绍了一例减肥手术后严重缺乏维生素B1引起的韦尼克脑病。
    方法:一名31岁女性,从3岁开始患有聋哑症,手术前3个月,用小型胃旁路术治疗严重肥胖,进入急诊室后被转移到我们单位.在近期的病史中,视力突然迅速下降,导致视力完全丧失,明显的虚弱,和四肢的感觉异常。考虑到以前的减肥手术,非酒精性Wernicke综合征的诊断被怀疑,其中维生素B1的IV治疗开始时剂量为5瓶200毫克在100毫升的盐水溶液中(在最初的72小时内每天三次,随后1次/天)。12小时后,视力有了改善,症状在48小时内完全缓解。1个月后,所有症状完全缓解,出院。
    结论:无意识错乱或脑病的初始视力丧失是Wernicke综合征的一种不典型表现。在酒精中毒或减肥后手术的情况下,临床怀疑必须很高。早期识别非典型症状,包括视力丧失,及时给予治疗可改善这种潜在可逆但时间依赖性神经系统急症的预后.
    BACKGROUND: Malabsorption syndromes are known chronic complications of bariatric surgery. Therefore, it is recommended to take oral supplementation with multivitamins. Wernicke\'s encephalopathy represents an acute neuropsychiatric syndrome associated with alcoholism or severe malnutrition; sporadic cases of this potential complication related to bariatric surgery are described in the literature. We present a case of Wernicke\'s encephalopathy due to severe vitamin B1 deficiency after bariatric surgery.
    METHODS: A 31-year-old woman with deaf-mutism from the age of 3 years old, operated 3 months before with a mini-gastric bypass for severe obesity, was transferred to our unit after accessing the emergency room. In the immediate medical history, there was the sudden and rapid decline in vision, leading to complete loss of vision, marked asthenia, and paresthesia in the four limbs. Considering the previous bariatric surgery, the diagnosis of non-alcoholic Wernicke\'s syndrome was suspected, for which IV therapy with Vitamin B1 was started at a dosage of 5 vials of 200 mg in 100 cc of saline solution (three times a day for the first 72 hours, subsequently 1 once/day). After 12 hours, there was an improvement in visual acuity, and the symptoms completely resolved within 48 hours. She was discharged with complete resolution of all symptoms after 1 month.
    CONCLUSIONS: Initial vision loss without confusion or encephalopathy is one atypical presentation of Wernicke syndrome. Clinical suspicion must be high in case of alcoholism or post-bariatric surgery. Early recognition of atypical symptoms, including vision loss, and timely administration of therapy improves the prognosis of this potentially reversible but time-dependent neurological emergency.
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  • 文章类型: Journal Article
    如果“遗传学”一词是一个相对较新的命题,1905年由英国生物学家威廉·贝特森介绍,他在科学界重新发现并传播了孟德尔的继承原则,自人类文明诞生以来,遗传的影响已经得到承认,特别是在农作物和动物育种方面。And,稍后,在家族朝代。在这篇简明的评论中,我们概述了遗传性听力损失的概念的演变,目前的分子遗传学和表观遗传学知识。
    If the term \"genetics\" is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel\'s principles of inheritance, since the dawn of human civilization the influence of heredity has been recognized, especially in agricultural crops and animal breeding. And, later, in familial dynasties. In this concise review, we outline the evolution of the idea of hereditary hearing loss, up to the current knowledge of molecular genetics and epigenetics.
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  • 文章类型: Journal Article
    背景:人工耳蜗植入对于那些患有不可逆性听力损失和聋哑症的患者来说是一种可接受的治疗选择。手术耗时且复杂。因此,麻醉技术对人工耳蜗植入手术的成功起着至关重要的作用。耳蜗植入物患者具有各种类型的综合征,从麻醉和手术的角度来看,这些综合征都很重要。植入前准备需要对听力进行客观评估,颅骨的X线平片和颞骨的CT扫描。5岁以下儿童听力的客观评估需要麻醉,获取头骨的X光片,磁共振成像(MRI),CT扫描,大脑诱发反应测听(BERA)测试,最后用于人工耳蜗植入手术。麻醉考虑因素包括术前熟悉患者及其家人。综合疾病具有特定的麻醉意义,例如存在困难的气道或延长的QT间期。在麻醉诱导过程中,父母的存在是非常理想的。电外科器械尤其是单极器械,一旦耳蜗植入到位,就不应该使用。
    方法:在我们的机构中,所有病例(15名儿童)在全身麻醉下接受人工耳蜗植入,并组成研究组.儿童在CT扫描期间口服咪达唑仑和服用氯胺酮。我们的全身麻醉技术进行了修改,以允许在手术过程中使用神经刺激器。为了减少眩晕的发生率,特别是在耳蜗造口术后,术后恶心呕吐,所有患者在诱导前静脉注射格隆铵和枸橼酸芬太尼.使用的其他药物是,硫喷酮,在氧气和一氧化二氮(O2和N2O)的1:2混合物中的甲胺和潮气末1.3MAC氟烷。电透热被关掉了,在将耳蜗装置植入患者之前。每当使用神经刺激器定位面神经时,都允许患者自发呼吸。Inj昂丹司琼0.1mg/kg用作止吐剂。术后疼痛缓解最初使用芬太尼1μg/kg静脉注射,后来使用布洛芬糖浆。
    结果:在我们的系列中,除了2例淋巴漏以外,没有明显的麻醉或手术并发症。
    BACKGROUND: Cochlear implants are now an acceptable therapeutic option for those patients with irreversible hearing loss and deaf-mutism. The surgery is time consuming and complicated. Hence, the technique of anaesthesia plays a crucial role in success of cochlear implant surgery. Cochlear implant patients have various types of syndromes which are important from anaesthetic as well as surgical point of view. Pre-implant preparation requires objective assessment of hearing, plain X-rays of skull and a CT scan of the temporal bone. Anaesthesia is required for objective assessment of hearing in children under five years of age, to obtain X-rays of skull, magnetic resonance imaging (MRI), CT scan, brain evoked response audiometry (BERA) testing and finally for cochlear implant surgery. Anaesthetic considerations include preoperative familiarisation with the patient and his family. Syndromal illnesses have specific anaesthetic significance such as presence of difficult airway or prolonged QT interval. Parental presence is highly desirable during induction of anaesthesia. Electro-surgical instruments especially monopolar ones, should not be used once the cochlear implant is in place.
    METHODS: In our institution, all cases (15 children) received their cochlear implants under general anaesthesia and formed the study group. Children were administered midazolam orally and inj ketamine during CT scan. Our techniques of general anaesthesia were modified to permit use of nerve stimulators during surgery. To minimise the incidence of vertigo particularly after cochleostomy, postoperative nausea and vomiting, all patients received glycopyrrolate and fentanyl citrate intravenously prior to induction. Other agents used were, thiopentone, suxamethonium and end-tidal 1.3 MAC halothane in 1:2 mixture of oxygen and nitrous oxide (O2 and N2O). Electro diathermy was switched off, before the cochlear device was implanted on the patient. Patients were allowed to breathe spontaneously whenever nerve stimulator was used to locate the facial nerve. Inj Ondansetron 0.1 mg/kg was used as anti-emetic agent. Postoperative pain relief was initially provided with fentanyl 1 μg/kg IV and later with syrup ibuprofen.
    RESULTS: There were no remarkable anaesthetic or surgical complication in our series except perilymph leakage in two cases.
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  • 文章类型: Historical Article
    这篇评论的目的是提醒ENT社区法国团队在多电极耳蜗植入物(MCI)的开发和最终确定中的重要作用,这是故意被忽视的,并修复法国在上世纪末被好奇地遗忘的地方。它旨在强调在MCI发展中发挥关键作用的研究人员的重要科学出版物。总之,巴黎圣安托万医院耳鼻喉科实验室的巴黎团队可以在五个方面要求其优先工作。我们是第一个:(1)在1976年绘制了三个活着的人类耳蜗的整个长度的频率图;(2)在1976年9月22日,在具有八个电极的聋人成年男性中建立了全耳蜗植入;(3)在1977年3月16日,申请了人类可植入助听器的专利;(4)描述了声音信号处理(SSP),因为它可以在没有实验的情况下提供听音,可以帮助患者的在新生儿严重耳聋的情况下。发生了不公正。这些事实将被带到科学界的知识。
    The objective of this review is to remind the ENT community of the essential role of the French teams in the development and finalization of the multi-electrode cochlear implant (MCI), which has deliberately been neglected, and to repair the oblivion into which France was curiously cast at the end of the last century. It aims to underline significant scientific publications from the researchers who played key roles in the development of MCIs. In conclusion, the Parisian team of the ENT Lab in Saint Antoine Hospital in Paris can claim priority for its work in five regards. We were the first: (1) to plot in 1976 a frequency map of the whole length of three living human cochleas; (2) on September 22, 1976, to set up total cochlear implantation in a deaf adult male with eight electrodes; (3) on March 16, 1977, to apply for a patent for an implantable hearing aid in humans; (4) to describe sound signal processing (SSP) for a functional cochlear implant able to supply totally deaf patients with speech discrimination without the help of lip-reading; (5) in 1983, to experimentally demonstrate why it was necessary to place a cochlear implant as early as possible, in case of profound neonatal deafness. An injustice has occurred. These facts will be brought to the knowledge of the scientific community.
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    文章类型: Journal Article
    背景:言语语言病理学家/耳鼻喉科医师认识到儿童中言语和语言障碍的患病率很高。该研究的目的是找出尼日利亚中北部言语和语言障碍的流行病学特征。
    方法:对2005年1月至2009年12月耳鼻喉科语音和语言治疗部门的所有转诊进行了为期五年的回顾性回顾。检索和分析的信息包括生物数据,患者的临床表现和诊断。对这些数据进行描述性分析。
    结果:共146例患者,其中89例(61%)为5岁以下,32人(21.9%)在5-10年之间,在11-20年范围内的20例(13.7%)和21-34年之间的2例(1.4%)。在老年人中没有观察到。男性占优势,男女比例为1.9:1.0。最常见的诊断是84例(57.5%)的聋哑症,然后是31例(21.2%)的言语发育延迟。诊断最少的是失语症2例(1.4%)。
    结论:言语和语言障碍在5岁以下老年人与非老年人中最为常见,男性患病率较高,聋哑症是最常见的。
    BACKGROUND: Speech-language pathologists/Otolaryngologists recognize high prevalence of speech and language disorder among children. The aim of the study is to find out the epidemiological profile of speech and language disorder in north central Nigeria.
    METHODS: A five year retrospective review of all referral to speech and language therapy unit ENT Department between January 2005 and December 2009. Information retrieved and analysed included bio-data, clinical presentation and diagnosis of the patients. Descriptive analysis of these data were done.
    RESULTS: A total of 146 patients were seen out of which 89 (61%) were under five, 32 (21.9%) were between 5-10 years, 20 (13.7%) in the range of 11-20 yrs and 2 (1.4%) were between 21-34 yrs. None was observed in the elderly. Male preponderance was noted with male to female ratio of 1.9:1.0. The commonest diagnosis was deaf-mutism in 84 (57.5%) followed by delayed speech development in 31(21.2%) patients. The least diagnosis was aphasia in 2 (1.4%) patients.
    CONCLUSIONS: Speech and language disorder was commonest among the under five\'s with non in the elderly, There was a higher prevalence amongst males and deaf-mutism was the commonest observed.
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