Audiology Research最新文献_第9页

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants 瓦登堡综合征：下一代测序对鉴定新型致病变异的贡献

IF 1.7

Audiology Research Pub Date : 2023-12-21 DOI: 10.3390/audiolres14010002

William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, S. S. da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, V. Pingault, R. Mingroni-Netto

{"title":"Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants","authors":"William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, S. S. da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, V. Pingault, R. Mingroni-Netto","doi":"10.3390/audiolres14010002","DOIUrl":"https://doi.org/10.3390/audiolres14010002","url":null,"abstract":"Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2. Additionally, limb musculoskeletal abnormalities and Hirschsprung disease differentiate types 3 and 4, respectively. Genes PAX3, MITF, SOX10, KITLG, EDNRB, and EDN3 are already known to be associated with WS. In WS, a certain degree of molecularly undetected patients remains, especially in type 2. This study aims to pinpoint causative variants using different NGS approaches in a cohort of 26 Brazilian probands with possible/probable diagnosis of WS1 (8) or WS2 (18). DNA from the patients was first analyzed by exome sequencing. Seven of these families were submitted to trio analysis. For inconclusive cases, we applied a targeted NGS panel targeting WS/neurocristopathies genes. Causative variants were detected in 20 of the 26 probands analyzed, these being five in PAX3, eight in MITF, two in SOX10, four in EDNRB, and one in ACTG1 (type 2 Baraitser-Winter syndrome, BWS2). In conclusion, in our cohort of patients, the detection rate of the causative variant was 77%, confirming the superior detection power of NGS in genetically heterogeneous diseases.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138953416","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}

引用次数: 0

Exploring Electrode Placements to Optimize the Identification and Measurement of Early Auditory Evoked Potentials. 探索电极位置，优化早期听觉诱发电位的识别和测量。

IF 1.7

Audiology Research Pub Date : 2023-12-11 DOI: 10.3390/audiolres13060085

Kailyn A McFarlane, Jason Tait Sanchez

{"title":"Exploring Electrode Placements to Optimize the Identification and Measurement of Early Auditory Evoked Potentials.","authors":"Kailyn A McFarlane, Jason Tait Sanchez","doi":"10.3390/audiolres13060085","DOIUrl":"10.3390/audiolres13060085","url":null,"abstract":"Cochlear synaptic loss (termed cochlear synaptopathy) has been suggested to contribute to suprathreshold hearing difficulties. However, its existence and putative effects in humans remain inconclusive, largely due to the heterogeneous methods used across studies to indirectly evaluate the health of cochlear synapses. There is a need to standardize proxies of cochlear synaptopathy to appropriately compare and interpret findings across studies. Early auditory evoked potentials (AEPs), including the compound action potential (AP)/Wave I of the auditory brainstem response are a popular proxy, yet remain variable based on technical considerations. This study evaluated one such consideration-electrode array (i.e., montage)-to optimize the use of early AEP waveforms. In 35 young adults, electrocochleography (ECochG) responses were collected using vertical and horizontal montages. Standard ECochG measures and AP/Wave I and Wave II peak-to-trough amplitudes and latencies were compared between montages. Vertical montage recordings consistently produced significantly larger AP/Wave I peak-to-trough amplitudes compared to horizontal recordings. These findings support the use of a vertical electrode montage for optimal recordings of peripheral cochlear nerve activity. As cochlear synaptopathy continues to be explored in humans, the methods highlighted here should be considered in the development of a standardized assessment.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832122","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}

引用次数: 0

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders. 哪个先出现？当 1 型乌谢尔综合征与神经精神障碍同时出现时。

IF 1.7

Audiology Research Pub Date : 2023-12-11 DOI: 10.3390/audiolres13060086

Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati

{"title":"Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.","authors":"Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati","doi":"10.3390/audiolres13060086","DOIUrl":"10.3390/audiolres13060086","url":null,"abstract":"Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological issues have been conducted. This work describes the case of a 16-year-old boy affected by congenital bilateral sensorineural HL, presenting a suddenly altered behaviour concomitant with a decrease in visual acuity. To establish a molecular diagnosis, Whole-Exome Sequencing analysis was performed, detecting a pathogenetic homozygous variant (c. 5985C>A, p.(Tyr1995*)) within the CDH23 gene. CDH23 is a known USH type 1 causative gene, recently associated with schizophrenia-like symptoms and bipolar disorders. To date, no studies have provided evidence of a direct genotype-phenotype correlation between USH patients carrying CDH23 variants and mental/behavioural issues; however, considering the multiple biological functions of CDH23, it can be hypothesised that it could have a pleiotropic effect. Overall, this study highlights the relevance of a continuous clinical evaluation of USH patients, to monitor not only the disease progression, but to early detect any psychological or behavioural alterations, thus allowing a rapid implementation of therapeutic strategies aimed at improving their quality of life and well-being.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832126","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}

引用次数: 0

Evaluation of Cochlear Symptoms in Migraine Patients without Vestibular Migraine and/or Ménière’s Disease 评估无前庭偏头痛和/或梅尼埃病的偏头痛患者的耳蜗症状

IF 1.7

Audiology Research Pub Date : 2023-12-06 DOI: 10.3390/audiolres13060084

V. Gambacorta, Giampietro Ricci, Alessandra D’Orazio, Davide Stivalini, Irene Baietta, V. E. Pettorossi, M. Faralli

{"title":"Evaluation of Cochlear Symptoms in Migraine Patients without Vestibular Migraine and/or Ménière’s Disease","authors":"V. Gambacorta, Giampietro Ricci, Alessandra D’Orazio, Davide Stivalini, Irene Baietta, V. E. Pettorossi, M. Faralli","doi":"10.3390/audiolres13060084","DOIUrl":"https://doi.org/10.3390/audiolres13060084","url":null,"abstract":"Migraine pathogenic pathways may selectively target the cochlea. A qualitative and quantitative analysis of cochlear symptoms in migraine patients without vestibular migraine and/or Méniere’s disease was conducted. We examined 60 consecutive patients with history of cochlear symptoms, including fullness, tinnitus, and hearing loss. Patients were divided into two groups based on migraine history: M (migraine) and nM (no migraine). The incidence of migraine was compared to a homogeneous control group with dysfunctional and inflammatory dysphonia without cochlear symptoms. The type, time of onset, recurrence, bilaterality of symptoms, and hearing threshold were analyzed. The incidence of migraine was significantly higher (p = 0.04) in patients with cochlear symptoms than in the control group. The onset of symptoms is significantly earlier (p < 0.05) in the presence of migraine. The fullness, recurrence, and bilaterality of symptoms are associated with migraine in a statistically significant way (p < 0.05). Pure tone audiometry shows a statistically significant increase in the hearing threshold (500–1000 Hz) in group M. Based on developing findings, cochlear migraine may be considered as a novel clinical entity, like vestibular migraine. It would be the expression, in the absence of vertiginous symptoms, of a selective suffering of the anterior labyrinth by known operating mechanisms of migraine.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138595382","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}

引用次数: 0

Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges. 遗传性听力损失的基因疗法：最新进展和依然存在的挑战。

IF 1.7

Audiology Research Pub Date : 2023-12-04 DOI: 10.3390/audiolres13060083

Roni Hahn, Karen B Avraham

引用次数: 0

Preceding Benign Paroxysmal Positional Vertigo as a Trigger for Persistent Postural-Perceptual Dizziness: Which Clinical Predictors? 良性阵发性位置性眩晕的前兆是持续性姿势感知性头晕的诱因：哪些临床预测因素？

IF 1.7

Audiology Research Pub Date : 2023-12-01 DOI: 10.3390/audiolres13060082

Augusto Pietro Casani, Nicola Ducci, Francesco Lazzerini, Nicola Vernassa, Luca Bruschini

{"title":"Preceding Benign Paroxysmal Positional Vertigo as a Trigger for Persistent Postural-Perceptual Dizziness: Which Clinical Predictors?","authors":"Augusto Pietro Casani, Nicola Ducci, Francesco Lazzerini, Nicola Vernassa, Luca Bruschini","doi":"10.3390/audiolres13060082","DOIUrl":"10.3390/audiolres13060082","url":null,"abstract":"Objective: Persistent postural-perceptual dizziness (PPPD) is a syndrome described as secondary, when it is the consequence of an organic disorder (s-PPPD), or primary, when no somatic triggers can be identified. We evaluated a group of patients diagnosed as s-PPPD, with Benign Positional Paroxysmal Vertigo (BPPV) as the main somatic trigger, with the aim of identifying the predictive clinical elements of evolution towards PPPD.Study design: Retrospective case review.Setting: Tertiary referral center.Patients: We evaluated 126 patients diagnosed with PPPD; 54 patients were classified as p-PPPD (43%) and 72 as s-PPPD (57%). Of these, 51 patients had BPPV as a somatic trigger of PPPD, and in this group, we evaluated the prevalence of some clinical features (age, sex, latency between the onset of BPPV and the final diagnosis, recurrence of BPPV and the presence of migraine headache) for comparison with a group of patients who suffered from BPPV without an evolution towards PPPD (control group).Results: In the group with PPPD secondary to BPPV, we found a significantly higher mean age and a longer latency between the onset of BPPV and the final diagnosis compared to the control group. No difference between the two groups was found regarding sex, recurrence rate and the presence of migraine headache.Conclusions: The parameters most involved as potential precipitants of PPPD after BPPV were the age of the patients and a long latency between the onset of BPPV and the final diagnosis; the mean age of the subjects who developed PPPD following BPPV was significantly higher. These findings lead us to emphasize the importance of the early identification and treatment of BPPV, especially in older patients.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832124","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}

引用次数: 0

Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics. 罗伯特-J-戈林对临床遗传学朋友和导师的个人回忆。

IF 1.7

Audiology Research Pub Date : 2023-11-23 DOI: 10.3390/audiolres13060081

Bruno Dallapiccola, Rita Mingarelli

引用次数: 0

Does Trauma-Informed Care Have a Place in Audiology? A Review and Practical Suggestions 创伤知情护理在听力学中有一席之地吗?回顾和实际建议

Audiology Research Pub Date : 2023-11-10 DOI: 10.3390/audiolres13060080

Shade Avery Kirjava, Jennifer Phelan

引用次数: 0

Cartilage Conduction Sounds in Cases of Wearing Different Transducers on a Head and Torso Simulator with a Manipulated Ear Pinna Simulator 在头部和躯干模拟器上佩戴不同换能器与操纵耳耳廓模拟器的情况下软骨传导声音

Audiology Research Pub Date : 2023-11-09 DOI: 10.3390/audiolres13060078

Ryota Shimokura, Tadashi Nishimura, Hiroshi Hosoi

{"title":"Cartilage Conduction Sounds in Cases of Wearing Different Transducers on a Head and Torso Simulator with a Manipulated Ear Pinna Simulator","authors":"Ryota Shimokura, Tadashi Nishimura, Hiroshi Hosoi","doi":"10.3390/audiolres13060078","DOIUrl":"https://doi.org/10.3390/audiolres13060078","url":null,"abstract":"Cartilage conduction is known widely as a third hearing transmission mechanism after the air and bone conduction methods, and transducers dedicated to the production of cartilage conduction sounds have been developed by several Japanese companies. To estimate the acoustic performance of the five cartilage conduction transducers selected for this study, both airborne sounds and cartilage conduction sounds were measured. Airborne sounds can be measured using a commercial condenser microphone; however, cartilage conduction sounds are impossible to measure using a conventional head and torso simulator (HATS), because the standard-issue ear pinna simulator cannot reproduce cartilage conduction sounds with the same spectral characteristics as the corresponding sounds measured in humans. Therefore, this study replaced the standard-issue simulator with a developed pinna simulator that can produce similar spectral characteristics to those of humans. The HATS manipulated in this manner realized results demonstrating that transducers that fitted the entrance to the external auditory canal more densely could produce greater cartilage conduction sounds. Among the five transducers under test, the ring-shaped device, which was not much larger than the entrance to the canal, satisfied the spectral requirements.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135241751","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}

引用次数: 0

Vestibular Testing—New Physiological Results for the Optimization of Clinical VEMP Stimuli 前庭测试-优化临床VEMP刺激的新生理结果

Audiology Research Pub Date : 2023-11-09 DOI: 10.3390/audiolres13060079

Christopher J. Pastras, Ian S. Curthoys

{"title":"Vestibular Testing—New Physiological Results for the Optimization of Clinical VEMP Stimuli","authors":"Christopher J. Pastras, Ian S. Curthoys","doi":"10.3390/audiolres13060079","DOIUrl":"https://doi.org/10.3390/audiolres13060079","url":null,"abstract":"Both auditory and vestibular primary afferent neurons can be activated by sound and vibration. This review relates the differences between them to the different receptor/synaptic mechanisms of the two systems, as shown by indicators of peripheral function—cochlear and vestibular compound action potentials (cCAPs and vCAPs)—to click stimulation as recorded in animal studies. Sound- and vibration-sensitive type 1 receptors at the striola of the utricular macula are enveloped by the unique calyx afferent ending, which has three modes of synaptic transmission. Glutamate is the transmitter for both cochlear and vestibular primary afferents; however, blocking glutamate transmission has very little effect on vCAPs but greatly reduces cCAPs. We suggest that the ultrafast non-quantal synaptic mechanism called resistive coupling is the cause of the short latency vestibular afferent responses and related results—failure of transmitter blockade, masking, and temporal precision. This “ultrafast” non-quantal transmission is effectively electrical coupling that is dependent on the membrane potentials of the calyx and the type 1 receptor. The major clinical implication is that decreasing stimulus rise time increases vCAP response, corresponding to the increased VEMP response in human subjects. Short rise times are optimal in human clinical VEMP testing, whereas long rise times are mandatory for audiometric threshold testing.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135241444","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}

引用次数: 0