高压氧联合地塞米松治疗突发性耳聋的疗效及相关影响因素分析

目的 分析高压氧联合地塞米松治疗突发性耳聋（SD）的疗效及相关影响因素。方法 回顾性分析 2014年 1 月—2016 年 12 月我院 200 例采用高压氧联合地塞米松治疗的 SD 患者的临床资料，根据疗效分为有效组（n=182 例）与无效组（n=18 例），比较 2 组性别、年龄、发病至就诊时间、耳别、听力损失、听力曲线类型、伴眩晕情况、伴耳鸣情况、合并疾病（高血压或糖尿病）、血浆黏度及血清 C 反应蛋白（CRP）等指标，并采用 Logistic 回归筛选影响SD 疗效的危险因素。结果 200 例患者经治疗后，总有效 182 例（91.00%），无效 18 例(9.00%）。有效组年龄>50岁、发病至就诊时间>7 d、听力损失≥60 dB、听力曲线类型为高频型或全聋型、伴眩晕、合并高血压、合并糖尿病、血浆黏度≥2 mPa·s、血清 CRP≥20 μmol/L 的比例明显低于无效组（P＜0.05）。Logistic 回归分析显示，年龄（>50 岁）、发病 至就诊时间（>7 d）、听力损失（≥60 dB）、听力曲线类型为高频型或全聋型、伴眩晕、合并高血压、合并糖尿病、血浆黏度（≥2 mPa·s）、血浆 CRP（≥20 μmol/L）为影响 SD 疗效的危险因素（P＜0.05）。结论 高压氧联合地塞米松是治疗SD 的有效方案，但影响其疗效的因素众多，临床治疗时有必要考虑患者临床与病理特征。     

Experiences,considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

Relatives of young sudden cardiac death (SCD) victims are at increased risk of carrying a potentially fatal inherited cardiac disease. Hence, it is recommended to perform an autopsy on the victim and to refer his or her relatives to a cardiogenetics clinic for a full evaluation to identify those at risk and allow preventive measures to be taken. However, at present, the number of families attending a cardiogenetics clinic after the SCD of a young relative is low in the Netherlands. We performed a qualitative study and report on the experiences and attitudes of first-degree relatives who attended a cardiogenetics clinic for evaluation. In total, we interviewed nine first-degree relatives and one spouse of seven SCD victims about their experiences, considerations and emotions before attendance and at the first stage of the cardiogenetic evaluation before DNA results were available. Interviews were transcribed verbatim and analysed. Medical professionals did not have an important role in informing or referring relatives to a cardiogenetics clinic. Importantly, all participants indicated that they would have appreciated a more directive approach from medical professionals, because their mourning process hampered their own search for information and decision-making. A need to understand the cause of death and wanting to prevent another SCD event occurring in the family were the most important reasons for attending a clinic. There are possibilities to improve the information process and better support their decision-making. The multidisciplinary cardiogenetic evaluation was appreciated, but could be improved by minor changes in the way it is implemented.     

Outcome prediction for Bonebridge candidates based on audiological indication criteria

ObjectiveTo re-evaluate current indication criteria and to estimate the audiological outcomes of patients with Bonebridge bone conduction implants based on preoperative bone conduction thresholds.MethodsWe assessed the outcome of 28 subjects with either conductive or mixed hearing loss (CMHL) or single-sided deafness (SSD) who were undergoing a Bonebridge implantation. We used linear regression to evaluate the influence of preoperative bone conduction thresholds of the better/poorer ear, indication group, and language (German- and French-speaking patients) on aided sound field thresholds. In addition, aided word recognition scores at 65 dB sound pressure level were fit with a logistic model that included preoperative bone conduction thresholds of the better/poorer ear, indication group, and language as effects.ResultsWe found that both aided sound field thresholds and word recognition were correlated with the preoperative bone conduction thresholds of the better hearing ear. No correlation between audiological outcomes and the preoperative bone conduction thresholds of the poorer ear, language, or indication group was found.ConclusionBone conduction thresholds of the better hearing ear should be used to estimate the outcome of patients undergoing Bonebridge implantation. We suggest the indication criteria for Bonebridge candidates considering maximal bone conduction thresholds of the better ear at 38 dB HL to achieve an aided sound field threshold of at least 30 dB hearing level and an aided word recognition score of at least 75% for monosyllabic words.     

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272 + 1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb.     

Role of ciclosporin in steroid-responsive sudden sensorineural hearing loss

Conclusions. A subgroup of patients with idiopathic sensorineural hearing loss (SNHL) will have steroid-dependent symptoms which can be confirmed using pure-tone audiometry. Long-term treatment with high-dose corticosteroids exposes patients to potentially serious adverse effects. Immunosuppression with ciclosporin can be an effective and well-tolerated treatment for steroid-responsive sudden SNHL. Objective. To highlight ciclosporin as a therapeutic option in the treatment of steroid-responsive sudden SNHL. Material and methods. A 39-year-old male with idiopathic sudden SNHL that was responsive to corticosteroids was treated with ciclosporin for 18 months. Results. Steroid-dependent SNHL was confirmed on audiological evaluation. Ciclosporin was administered, allowing corticosteroid therapy to be discontinued. Ciclosporin was effective at controlling all symptoms of SNHL. Remission was confirmed objectively with pure-tone audiometry.     

Prognostic factors in sudden sensorineural hearing loss: a retrospective study using interaction effects

The prognostic significance of vertigo in patients with idiopathic sudden sensorineural hearing loss (SSNHL) remains a matter of debate.ObjectiveThis paper aims to verify the difference between a group with vertigo and a group without vertigo, and to analyze vertigo's validation as a prognostic factor in patients with SSNHL.MethodThis study involved 183 patients with SSNHL. A t-test was used to compare group A (SSNHL with vertigo, n = 31) and group B (SSNHL without vertigo, n = 152). Also we want to verify the interaction effects between vertigo and other prognostic factors using multiple regression analysis.ResultsThere was a significant difference between group A and group B: the initial hearing level of group A was lower than group B, and their treatment onset was also shorter. In addition, vertigo itself didn't affect hearing improvement, but the interaction variable between vertigo and initial hearing level did affect hearing improvement significantly.ConclusionThe clinical characteristics of patients with vertigo did not directly affect hearing improvement with SSNHL; however, vertigo had an influence on SSNHL though its interaction with the initial hearing levels.     

Follow-Up Study in a Family with Dominant Progressive Hereditary Sensorineural Hearing Impairment II. Clinical Aspects

An autosomal-dominant progressive sensorineural hearing loss in six generations of a large family with 105 affected members was studied. The pattern of inheritance is autosomal dominant with an almost complete penetrance. The age of onset is between 5 and 15 years. Individuals with a normal audiogram at the age of 15 and over will not develop the disorder. Different generations show an identical pattern of progression. Because the age of onset is the same, anticipation is excluded. The hearing loss is symmetrical. Over 40 years, low-frequency losses are greater in females than in males. Epistasis possibly plays a role since affected individuals in branch II of this family have a more severe expression than those in the other two affected branches. No abnormal excretion of organic acids in the urine could be established.

Une atteinte auditive de perception héréditaire dominante a été étudiée dans une famille de six générations, 105 personnes atteintes. La transmission est autosomale dominante avec une pénétrance de presque 100%. L'anomalie débute entre 5 et 15 ans. Un individu de 15 ans ou plus avec un audiogramme normal ne sera jamais atteint de cette surdité. La progression dans les gënérations est identique et l'aˇge auquel se manifeste la maladie est le měme. La perte d'audition est symétrique pour l'oreille droite et gauche. La perte auditive sur les graves est plus importante chez les femmes que chez les hommes. Dans la branche généalogique II la perte d'audition se développe plus rapidement que dans les autres branches. L'excrétion urinaire d'acides organiques est normale.