Benefit of cochlear implantation in a patient with Myhre syndrome

2021 ◽  
Vol 14 (8) ◽  
pp. e243164
Author(s):  
Tiziana Di Cesare ◽  
Giorgia Rossi ◽  
Giorgia Girotto ◽  
Walter Di Nardo
Keyword(s):  
Hearing Aids ◽  
Round Window ◽  
Pure Tone Audiometry ◽  
Facial Dysmorphism ◽  
Auditory Rehabilitation ◽  
Whole Exome ◽  
Nerve Dysfunction ◽  
Postoperative Setting ◽  
Myhre Syndrome

Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 gene. We describe the benefits of cochlear implant (CI) in a patient with sensorineural HL carrying a mutation (NM_005359.6: c.1498A>G; p.lle500Val) within the SMAD4 gene, detected by whole-exome sequencing. The CI was inserted through the round window despite otospongiotic abnormalities. Pure-tone audiometry improved up to 20 dBHL. Speech perception in noise (Simplified Noise Reduction - SNR +10) increased from 0% pre implantation with hearing aids to 50% post implantation. The postoperative setting of the electrical stimulation limits yielded an asymmetric map, with lower levels for central electrodes and higher levels for lateral ones. Action potential could not be evoked via medial electrodes, suggesting a cochlear nerve dysfunction. Outcomes related to quality of life and cognitive impairment improved. CI was shown to be an effective auditory rehabilitation strategy.

AGE-RELATED ISSUES OF THE QUALITY OF LIFE IN HEARING IMPAIRED PATIENTS

2021 ◽  
pp. 885-892
Author(s):  
Л. Е. Голованова ◽  
Е. А. Огородникова ◽  
Е. С. Лаптева ◽  
М. Ю. Бобошко
Keyword(s):  
Quality Of Life ◽  
Hearing Loss ◽  
Hearing Aids ◽  
Pure Tone Audiometry ◽  
Hearing Impaired ◽  
Hearing Disorders ◽  
Age Related ◽  
Sf 36 ◽  
Significant Difference

Целью исследования было изучение качества жизни лиц с нарушениями слуха в разных возрастных группах. Обследованы 100 пациентов, обратившихся в городской сурдологический центр для взрослых в связи с нарушением слуха: 50 человек - 34-59 лет, 50 - 60 лет и старше, из которых 32 человека были пожилого возраста (60-74 года)и 18 - старческого (75-86 лет). Степень тугоухости оценивали на основании результатов тональной пороговой аудиометрии. Для исследования качества жизни все пациенты заполняли общий опросник MOS SF-36, отражающий физический и психологический компоненты здоровья, а также специальный опросник HHIА(E)-S для лиц с нарушениями слуха. Установлено, что шкала HHIА(E)-S демонстрирует высокую корреляцию со степенью тугоухости у пациентов моложе 60 лет ( R =0,98; достоверность различий на уровне p <0,05), которая снижается у пациентов 60 лет и старше ( R =0,94; различия в оценках при разной степени тугоухости недостоверны). Значительные трудности в старшей возрастной группе могут быть связаны с тем, что людям пожилого и, особенно, старческого возраста сложно пользоваться слуховыми аппаратами (или они для них неэффективны) и оценивать свои затруднения по шкалам опросника. Целесообразно использовать шкалу HHIА(Е)-S в качестве скринингового инструмента для раннего выявления тугоухости, направления пациентов к сурдологу и своевременного слухопротезирования. The aim of the research was to study the quality of life in hearing impaired patients of different age. 100 patients referred to the city audiology centre because of their hearing disorders were examined: 50 patients from 34 to 59 years old and 50 patients from 60 years and older, from which 32 patients were of older age (60 to 74 years old) and 18 of oldest age (75 to 86 years old). A degree of hearing loss was assessed according to results of pure tone audiometry. To study the quality of life all patients filled in the questionnaire MOS SF-36, which evaluates physical and psychological components of health, and the questionnaire HHIA(E)-S, designed specifically for patients with hearing disorders. The HHIA(E)-S scale was found to show high correlation with hearing loss degree in patients younger than 60 years old ( R =0,98 with statistically significant difference, p <0,05), with decreasing correlation in patients from 60 years and older ( R =0,98; no significant difference while assessing various hearing loss degrees). Considerable difficulties in this age group may be explained by the fact, that older and especially oldest patients have a challenge with hearing aids usage (or they are of low efficiency for them) and with assessing theirs difficulties on the questionnaire scales. The HHIA(E)-S scale is useful as a screening tool for early detection of hearing loss, referral of patients to an audiologist and prompt hearing aid fitting.

scholarly journals Multicenter Clinical Trial of Vibroplasty Couplers to Treat Mixed/Conductive Hearing Loss: First Results

2016 ◽  
Vol 21 (4) ◽  
pp. 212-222 ◽  
Author(s):  
Thomas Zahnert ◽  
Hubert Löwenheim ◽  
Dirk Beutner ◽  
Rudolf Hagen ◽  
Arneborg Ernst ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hearing Aids ◽  
Round Window ◽  
Bone Conduction ◽  
Prospective Trial ◽  
Life Questionnaire ◽  
University Hospitals ◽  
Active Middle Ear Implant ◽  
Quality Of Life Questionnaire

Objective: To evaluate the safety and effectiveness of round window (RW), oval window (OW), CliP and Bell couplers for use with an active middle ear implant. Methods: This is a multicenter, long-term, prospective trial with consecutive enrollment, involving 6 university hospitals in Germany. Bone conduction, air conduction, implant-aided warble-tone thresholds and Freiburger monosyllable word recognition scores were compared with unaided preimplantation results in 28 moderate-to-profound hearing-impaired patients after 12 months of follow-up. All patients had previously undergone failed reconstruction surgeries (up to 5 or more). In a subset of patients, additional speech tests at 12 months postoperatively were used to compare the aided with the unaided condition after implantation with the processor switched off. An established quality-of-life questionnaire for hearing aids was used to determine patient satisfaction. Results: Postoperative bone conduction remained stable. Mean functional gain for all couplers was 37 dB HL (RW = 42 dB, OW = 35 dB, Bell = 38 dB, CliP = 27 dB). The mean postoperative Freiburger monosyllable score was 71% at 65 dB SPL. The postimplantation mean SRT50 (speech reception in quiet for 50% understanding of words in sentences) improved on average by 23 dB over unaided testing and signal-to-noise ratios also improved in all patients. The International Outcome Inventory for Hearing Aids (IOI-HA)quality-of-life questionnaire was scored very positively by all patients. Conclusion: A significant improvement was seen with all couplers, and patients were satisfied with the device at 12 months postoperatively. These results demonstrate that an active implant is an advantage in achieving good hearing benefit in patients with prior failed reconstruction surgery.

scholarly journals Effects of SoundBite Bone Conduction Hearing Aids on Speech Recognition and Quality of Life in Patients with Single-Sided Deafness

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Qiong Luo ◽  
Ying Shen ◽  
Ting Chen ◽  
Zhong Zheng ◽  
Haibo Shi ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Speech Recognition ◽  
Hearing Aids ◽  
Bone Conduction ◽  
Hearing Threshold ◽  
Pure Tone Audiometry ◽  
Percentage Points ◽  
Bone Conduction Hearing ◽  
Single Sided Deafness

Objectives. To analyze the clinical application of SoundBite bone conduction hearing aids by assessing the improvement of speech recognition and the scores of the benefit scale questionnaire for patients with single-sided deafness (SSD). Design. Nine patients aged 24 to 61 years with SSD for more than 3 months were enrolled in this study. The patients could understand and repeat Mandarin and have good compliance with the study. The measurements were evaluated before and after one month of wearing hearing aids using the pure tone audiometry threshold, speech recognition in quiet and in noise, and the Glasgow Benefit Inventory (GBI) benefit scale score. Results. Pure tone audiometry results showed that the average hearing threshold of good ears and bad ears was 11.4±2.6 dB HL and 89.9±6.4 dB HL, respectively. The average hearing threshold of bad ears after wearing hearing aids was 23.5±9.0 dB HL. Statistical analysis showed that the hearing improvement for the bad ears after wearing hearing aids was significant. The speech audiometry results showed that the disyllable word recognition score of the bad ears in quiet increased significantly at 50 dB SPL by 40±12 percentage points and at 65 dB SPL by 71±15 percentage points. As for the speech recognition in noise, when the signal sound came from the bad ear side and the noise from the good ear side (SSSDNAH), the speech recognition score (SRS) significantly increased by 17±6 and 9±4 at a signal-to-noise ratio (SNR) of -2 dB and -5 dB, respectively, after wearing the hearing aids. When the signal sound came from the front of the patient and the noise from the bad ear side (S0NSSD), the SRS scores were reduced by 5±5 and 7±5 percentage points at SNR equal to -2 dB and -5 dB, which was significantly different from that before wearing the hearing aids. When the signal and noise both came from the front of the patients (S0N0), the SRS was not significantly increased by 5±4 percentage points at SNR equal to -2 dB compared to before wearing hearing aids. However, the SRS was significantly increased by 5±2 percentage points at SNR equal to -5 dB compared to before wearing hearing aids. The average total GBI score was 31±12 for the nine patients, with an average score of 32±10, 31±8, and 30±7 for general conditions, social support, and physical health, respectively. The results of the questionnaires showed that patients’ quality of life was improved after wearing SoundBite bone conduction hearing aids. Conclusions. SoundBite bone conduction hearing aids are a good choice for patients with SSD, as it could improve the speech recognition ability of patients both in a quiet and noisy environment and improves the quality of life after wearing hearing aids.

Emerging approaches for restoration of hearing and vision

2020 ◽  
Author(s):  
Sonja Kleinlogel ◽  
Christian Vogl ◽  
Marcus Jeschke ◽  
Jakob Neef ◽  
Tobias Moser
Keyword(s):  
Gene Therapy ◽  
Hearing Aids ◽  
Sensory Information ◽  
Gene Replacement ◽  
Therapeutic Approaches ◽  
Optogenetic Stimulation ◽  
Cellular Specificity ◽  
Socioeconomic Burden ◽  
Comprehensive Reference

Impairments of vision and hearing are highly prevalent conditions limiting the quality of life and presenting a major socioeconomic burden. For long, retinal and cochlear disorders have remained intractable for causal therapies, with sensory rehabilitation limited to glasses, hearing aids, and electrical cochlear or retinal implants. Recently, the application of gene therapy and optogenetics to eye and ear has generated hope for a fundamental improvement of vision and hearing restoration. To date, one gene therapy for the restoration of vision has been approved and undergoing clinical trials will broaden its application including gene replacement, genome editing, and regenerative approaches. Moreover, optogenetics, i.e. controlling the activity of cells by light, offers a more general alternative strategy. Over little more than a decade, optogenetic approaches have been developed and applied to better understand the function of biological systems, while protein engineers have identified and designed new opsin variants with desired physiological features. Considering potential clinical applications of optogenetics, the spotlight is on the sensory systems. Multiple efforts have been undertaken to restore lost or hampered function in eye and ear. Optogenetic stimulation promises to overcome fundamental shortcomings of electrical stimulation, namely poor spatial resolution and cellular specificity, and accordingly to deliver more detailed sensory information. This review aims at providing a comprehensive reference on current gene therapeutic and optogenetic research relevant to the restoration of hearing and vision. We will introduce gene-therapeutic approaches and discuss the biotechnological and optoelectronic aspects of optogenetic hearing and vision restoration.

scholarly journals Evaluation of the efficacy of hearing aids in older adults: a multiparametric longitudinal study protocol

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Domenico Cuda ◽  
Sara Ghiselli ◽  
Alessandra Murri
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Speech Perception ◽  
Hearing Aids ◽  
Assessment Tools ◽  
Elderly Subjects ◽  
Single Subject ◽  
Measurement Tools ◽  
First Time

Abstract Background Prevalence of hearing loss increases with age. Its estimated prevalence is 40–50 % in people over 75 years of age. Recent studies agree that declinein hearing threshold contribute to deterioration in sociality, sensitivity, cognition, and quality of life for elderly subjects. The aim of the study presented in this paper is to verify whether or not rehabilitation using first time applied Hearing Aids (HA) in a cohort of old people with hearing impairment improves both speech perception in a noisy environment over time and the overall health-related quality of life. Methods The monocentric, prospective, repeated measurements, single-subject, clinical observational study is to recruit 100 older adults, first-time HA recipients (≥ 65 years).The evaluation protocol is designed to analyze changes in specific measurement tools a year after the first HA usage in comparison with the evaluation before HA fitting. Evaluations will consist of multiparametric details collected through self-report questionnaires completed by the recipients and a series of commonly used audiometric measures and geriatric assessment tools. The primary indicator of changes in speech perception in noise to be used is the Italian version of Oldenburg Satz (OLSA) test whereas the indicator of changes in overall quality of life will be the Assessment of Quality of Life (AQoL) and Hearing Handicap Inventory for the Elderly (HHIE) questionnaires. The Montreal Cognitive Assessment (MoCA) will help in screening the cognitive state of the subjects. Discussion The protocol is designed to make use of measurement tools that have already been applied to the hearing-impaired population in order to compare the effects of HA rehabilitation in the older adults immediately before first HA usage (Pre) and after 1 year of experience (Post). This broad approach will lead to a greater understanding of how useful hearing influences the quality of life in older individuals, and therefore improves potentials for healthy aging. The data is to be analyzed by using an intrasubject endpoint comparison. Outcomes will be described and analyzed in detail. Trial registration This research was retrospectively registered underno. NCT04333043at ClinicalTrials.gov (http://www.clinicaltrials.gov/) on the 26 March 2020. This research has been registered with the Ethics Committee of the Area Vasta Emilia Nord under number 104, date of approval 17/07/2017.

scholarly journals Impact and cost-effectiveness evaluation of a community-based rehabilitation intervention on quality of life among Chinese adults with hearing loss: study protocol for a randomized controlled trial

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xin Ye ◽  
Dawei Zhu ◽  
Siyuan Chen ◽  
Xuefeng Shi ◽  
Rui Gong ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hearing Loss ◽  
Cost Effectiveness ◽  
Treatment Group ◽  
Hearing Aids ◽  
Control Group ◽  
Chinese Adults ◽  
Community Based ◽  
The Impact

Abstract Background Hearing loss is quite prevalent and can be related to people’s quality of life. To our knowledge, there are limited studies assessing the efficacy of hearing interventions on quality of life in adults. Therefore, we aim to conduct a randomized controlled trial (RCT) to determine the impact and cost-effectiveness of community-based hearing rehabilitation on quality of life among Chinese adults with hearing loss. Methods/design In this two-arm feasibility study, participants aged 16 and above with some degree of hearing loss (n = 464) will be recruited from Linyi City, Shandong Province. They are randomly assigned to the treatment group or the control group. Those in the treatment group are prescribed with hearing aids, while those in the control group receive no intervention. Reinstruction in use of devices is provided for the treatment group during booster visits held 12 months post-randomization or unscheduled interim visits when necessary. Data are collected at baseline and the follow-up 20 months later. The primary outcome is changes in quality of life over a 20-month study period. Secondary outcomes include sub-dimensions in quality of life, physical functioning, chronic diseases, cognitive function, depression, social support, hospitalizations, falls, and healthcare costs. Finally, we will evaluate whether hearing aids intervention is cost-effective to apply in a large scale. Discussion The trial is designed to evaluate the impact and cost-effectiveness of a community-based rehabilitation intervention on quality of life among Chinese adults with hearing loss. We hope that it would help improve the well-being for Chinese adults and provide references in policy and practice for China and other countries. Trial registration Chinese Clinical Trial Registry ChiCTR1900024739. Registered on 26 July 2019.

AUDIOLOGICAL CORRELATES OF AGE-RELATED MANIFESTATIONS OF AUDITORY DISORDERS

2020 ◽  
pp. 549-554
Author(s):  
Л. Е. Голованова ◽  
Е. А. Огородникова ◽  
Н. С. Белокурова ◽  
Е. С. Лаптева ◽  
М. Ю. Бобошко
Keyword(s):  
Hearing Aids ◽  
Auditory Processing ◽  
Pure Tone ◽  
Young Patients ◽  
Pure Tone Audiometry ◽  
Sound Field ◽  
Speech Audiometry ◽  
Central Auditory Processing ◽  
Central Auditory Processing Disorder ◽  
Age Related

Целью исследования был сравнительный анализ жалоб и аудиологических показателей у пациентов сурдологического центра в зависимости от возраста. Представлены результаты обследования 300 первичных пациентов (случайная выборка), обратившихся к сурдологу-оториноларингологу в течение 1 мес. В группу молодых пациентов (19-44 года) вошли 40 человек; в группу среднего возраста (45- 59 лет) - 62 человека; в группу пожилых (60-74 года) - 100 человек; в группу старческого возраста (75-90 лет) - 98 человек. Обследование включало сбор жалоб и анамнеза, ЛОР-осмотр, тональную пороговую аудиометрию, импедансометрию, речевую аудиометрию в наушниках для выявления признаков центральных слуховых расстройств или в свободном звуковом поле для оценки эффективности слухопротезирования. Установлено, что для ранней диагностики тугоухости и профилактики возрастных сенсорнокогнитивных дисфункций целесообразно использовать не только результаты тональной пороговой аудиометрии, но и данные речевой аудиометрии, а также анализ субъективных жалоб. Результаты работы свидетельствуют о необходимости организации скрининга состояния слуха в рамках диспансеризации населения старше 60 лет. The aim of the study was a comparative analysis of complaints and audiological findings in patients of the audiological center depending on their age. The results of the examination of 300 fi rstly consulted patients (random sample) are presented. The group of young patients (19-44 years) included 40 people; middle age (45-59 years) - 62 people; elderly (60-74 years) - 100 people; senile age (75-90 years) - 98 people. The survey included the collection of complaints and anamnesis, ENT checkup, pure tone audiometry, impedancemetry, speech audiometry in headphones to detect the signs of Central Auditory Processing Disorder or in the free sound field to assess the effectiveness of hearing aids. It was found that for early diagnosis of hearing loss and prevention of age-related sensory-cognitive dysfunction, it is advisable to use not only the results of pure tone audiometry, but also the data of speech audiometry, as well as the analysis of subjective complaints. The results of the work indicate the need for hearing screening in the population over 60 years old.

scholarly journals System Analysis of the Sequencing Quality of Human Whole Exome Samples on Bgi Ngs Platform

2021 ◽  
Author(s):  
Vera Belova ◽  
Anna Pavlova ◽  
Robert Afasizhev ◽  
Viktoria Moskalenko ◽  
Margarita Korzhanova ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
System Analysis ◽  
Regions Of Interest ◽  
Qualitative And Quantitative ◽  
Whole Exome ◽  
Pcr Duplicates ◽  
Sequencing Quality ◽  
Chinese Company ◽  
Chinese Manufacturer

AbstractHuman whole exome sequencing (WES) is now the standard for most medical genetics applications worldwide. The leaders are manufacturers of enrichment kits that base their protocols on a hybridization approach using cRNA or cDNA biotinylated samples specific to regions of interest in the genome. Recently, platforms from the Chinese company MGI Tech have been successfully promoted in the markets of many countries in Europe and Asia. There is no longer any question about their reliability and the quality of the data obtained. However, very few task-specific kits for WES, in particular, are presented for these sequencers. We have developed our solution for library pre-capture pooling and exome enrichment using Agilent probes. In this work, we demonstrate on a set of standard benchmark samples from the Platinum Genome Collection that our protocol, called “RSMU_exome”, is superior to the kit from MGI Tech in qualitative and quantitative terms. It allows detecting more SNVs and CNVs with superior sensitivity and specificity values, generates fewer PCR duplicates, allows more samples to be pooled in a single enrichment, and requires less raw data to produce results comparable to the MGI Tech solution. Also, our protocol is significantly cheaper than the kit from the Chinese manufacturer.

scholarly journals Totally Implantable Hearing Devices

2010 ◽  
Vol 2 (2) ◽  
pp. 139-142
Author(s):  
Mohan Kameswaran ◽  
S Raghunandhan
Keyword(s):  
Hearing Loss ◽  
Hearing Aids ◽  
Surgical Procedure ◽  
Social Stigma ◽  
Current Status ◽  
Auditory Rehabilitation ◽  
Hearing Devices ◽  
Implantable Hearing Aids

Abstract Hearing aids are the principal means of auditory rehabilitation for patients with moderate to severe sensori-neural hearing loss. Although technical improvements and modifications have improved the fidelity of conventional aids, hearing aids still have many limitations including the inherent self consciousness and social stigma attached to visible hearing aids. The recently introduced totally implantable hearing aids offer patients with hearing loss several potential advantages over conventional hearing aids. This article reviews the indications, surgical procedure, advantages and the current status of totally implantable hearing devices.

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