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.

BACKGROUND: Hereditary hearing loss is known to exhibit a significant degree of genetic heterogeneity. Herein, we present a case report of a novel mutation in the tenascin-C (TNC) gene in Chinese patients with nonsyndromic hearing loss (NSHL).
METHODS: This includes a young deaf couple and their 2-year-old baby.
METHODS: Based on the clinical information, hearing test, metagenomic next-generation sequencing (mNGS), Sanger sequencing, protein function and structure analysis, and model prediction, in our case, the study results revealed 2 heterozygous mutations in the TNC gene (c.2852C>T, p.Thr951Ile) and the TBC1 domain family member 24 (TBC1D24) gene (c.1570C>T, p.Arg524Trp). These mutations may be responsible for the hearing loss observed in this family. Notably, the heterozygous mutations in the TNC gene (c.2852C>T, p.Thr951Ile) have not been previously reported in the literature.
METHODS: Avoid taking drugs that can cause deafness, wearing hearing AIDS, and cochlear implants.
RESULTS: Regular follow-up of family members is ongoing.
CONCLUSIONS: The genetic diagnosis of NSHL holds significant importance as it helps in making informed treatment decisions, providing prognostic information, and offering genetic counseling for the patient\'s family.

UNASSIGNED: This study aimed to examine the frequencies of mt-tRNAGlu variants in 180 pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls.
UNASSIGNED: Sanger sequencing was performed to screen for mt-tRNAGlu variants. These mitochondrial DNA (mtDNA) pathogenic mutations were further assessed using phylogenetic conservation and haplogroup analyses. We also traced the origins of the family history of probands carrying potential pathogenic mtDNA mutations. Mitochondrial functions including mtDNA content, ATP and reactive oxygen species (ROS) were examined in cells derived from patients carrying the mt-tRNAGlu A14692G and CO1/tRNASer(UCN) G7444A variants and controls.
UNASSIGNED: We identified four possible pathogenic variants: m.T14709C, m.A14683G, m.A14692G and m.A14693G, which were found in NSHL patients but not in controls. Genetic counseling suggested that one child with the m.A14692G variant had a family history of NSHL. Sequence analysis of mtDNA suggested the presence of the CO1/tRNASer(UCN) G7444A and mt-tRNAGlu A14692G variants. Molecular analysis suggested that, compared with the controls, patients with these variants exhibited much lower mtDNA copy numbers, ATP production, whereas ROS levels increased (p<0.05 for all), suggesting that the m.A14692G and m.G7444A variants led to mitochondrial dysfunction.
UNASSIGNED: mt-tRNAGlu variants are important risk factors for NSHL.
The main aim of our study was to explore the association between the mt-tRNAGlu variants and hearing loss. We found that m.T14709C, m.A14683G, m.A14692G and m.A14693G variants were associated with hearing impairments, these variants localized at extremely conserved nucleotides of mt-tRNAGlu and may result a failure in tRNA metabolism, furthermore, patients with mt-tRNAGlu variants exhibited much lower levels of mtDNA copy number, ATP as compared with controls, whereas ROS increased. As a result, mt-tRNAGlu variants may serve as biomarkers for mitochondrial deafness, and screening for tRNAGlu variants is recommended for early detection and diagnosis of mitochondrial deafness.

本文报告1个多发性骨性联合综合征1型（multiple synostoses syndrome-1，SYNS1）家系，其特点是传导性听力损失、指近端关节屈曲障碍以及独特的面容。全外显子测序和生物信息学分析显示NOG基因中的一个错义致病变异c.554C>G（Ser185Cys）在该家族中共分离。针对该家系生育听力健康后代的需求，我们分析了SYNS1的遗传原因、表型特点，对该家系进行了遗传咨询，采用基于单细胞全基因组扩增、连锁分析、染色体非整倍体检测的胚胎植入前遗传学检测（preimplantation genetic testing，PGT）技术进行预防。体外受精获得基因型正常胚胎3枚，移植其中1枚，孕期产前检测提示胎儿基因型正常且发育良好，出生后表型及基因型评估提示新生儿健康且未携带SYNS1致病基因变异。针对非严重致残的遗传性疾病，如遗传性传导性耳聋及其相关综合征，采用PGT技术进行预防有助于避免致病基因变异垂直传递，是既能帮助高危家庭生育健康后代又符合伦理规定的一种可选预防方案。.

BACKGROUND: Maternally inherited diabetes and deafness (MIDD) is a rare genetic disorder arising from mitochondrial DNA mutations, characterized by a combination of diabetes mellitus and sensorineural deafness. It is known that MIDD patients with cardiomyopathy have a poor prognosis, but there are no established guidelines for the diagnosis and follow-up of cardiomyopathy in MIDD patients.
METHODS: Patient 1 was a 48-year-old woman who visited the hospital with cardiomegaly and had been taking oral hypoglycemic agents for 8 years. Patient 2 was a 21-year-old man, the son of patient 1, who visited the hospital for genetic screening. Patient 2 was also diagnosed diabetes mellitus 2 years ago.
METHODS: Patient 1 was found to have restrictive cardiomyopathy on echocardiography and underwent endomyocardial biopsy and genetic testing to determine the etiology. The m.3243A>G mutation was confirmed and she was diagnosed with MIDD accompanied with diabetes and hearing loss. Additionally, patient 2 had m.3243 A>G mutation and was diagnosed with MIDD due to diabetes and hearing loss.
METHODS: Because MIDD does not have a specific treatment, patient 1 took ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment for diabetes control and heart failure. Patient 2 was taking ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with treatment for diabetes.
RESULTS: She subsequently underwent routine transthoracic echocardiography, and a progressive decline in global longitudinal strain (GLS) was first observed, followed by a worsening of the patient\'s clinical situation. Patient 2 had concentric remodeling and decreased GLS. On periodic echocardiography, GLS decreased at a very slow rate, and the patient\'s clinical course was stable.
CONCLUSIONS: The findings of this report contribute to the understanding of the clinical course of MIDD-associated cardiomyopathy and highlight the potential of GLS as a sensitive marker for disease progression.

A 51-year-old man with a history of cisplatin treatment for a right testicular tumor underwent microvascular decompression for hemifacial spasm. At an early stage in the surgical procedure, the intraoperative auditory brainstem response (ABR) was diminished despite a relatively minimally invasive approach, resulting in irreversible hearing loss. Cisplatin is known to cause dose-dependent hearing impairment primarily affecting the cochlea, but it can also induce neurotoxicity. In the present case, prior cisplatin administration may have caused fragility of the cochlear nerve as well. Patients with a history of ototoxic and neurotoxic drugs such as cisplatin require more careful manipulation and thorough intraoperative auditory monitoring during neurosurgical procedures that may affect hearing, such as those for hemifacial spasms.

SARS COV 2 infection affects primarily the respiratory system and various organs in humans is responsible for higher mortality secondary to cytokine storm during the COVID-19 pandemic. It affects the internal auditory system is responsible for Sensory neural hearing loss in adults as well as children born to COVID-19 infected mothers. This study was aimed to detect the pattern of hearing loss in COVID-19 infected adults and pattern of hearing loss in children born to gestational COVID-19 infected mothers. Fifty asymptomatic RT-PCR COVID-19 infected adults and age, sex matched healthy controls were evaluated for audiological profile using Pure Tone Audiometry (PTA). Children born to COVID-19 infected mothers were tested using Transient product otoacoustic emissions and click-evoked auditory brainstem responses (ABRs) compared with children born to non-COVID mothers. PTA auditory profile of COVID-19 infected adults on day 7 had 30% (16 out of 50) significant high frequency sensory neural hearing impairment for 4000 Hz (p value 0.003), 6000 Hz (p value 0.001), 8000 Hz (p value 0.001). Repeat PTA testing on day 30 showed normal hearing. Whereas in children, 40% (n = 20) born to COVID-19 infected mothers had OAE as \"Refer\". BERA (ABRs) testing of that OAE \"Refer\" children revealed 30% (n = 6) hearing impairment. COVID-19 infection cause transient type of high frequency sensory neural hearing loss in adults. Whereas in children born to COVID-19 infected mothers there is risk of developing permanent, progressive or long-standing transient type of sensory neural hearing loss.

Word deafness is a rare neurological disorder often observed following bilateral damage to superior temporal cortex and canonically defined as an auditory modality-specific deficit in word comprehension. The extent to which word deafness is dissociable from aphasia remains unclear given its heterogeneous presentation, and some have consequently posited that word deafness instead represents a stage in recovery from aphasia, where auditory and linguistic processing are affected to varying degrees and improve at differing rates. Here, we report a case of an individual (Mr. C) with bilateral temporal lobe lesions whose presentation evolved from a severe aphasia to an atypical form of word deafness, where auditory linguistic processing was impaired at the sentence level and beyond. We first reconstructed in detail Mr. C\'s stroke recovery through medical record review and supplemental interviewing. Then, using behavioral testing and multimodal neuroimaging, we documented a predominant auditory linguistic deficit in sentence and narrative comprehension-with markedly reduced behavioral performance and absent brain activation in the language network in the spoken modality exclusively. In contrast, Mr. C displayed near-unimpaired behavioral performance and robust brain activations in the language network for the linguistic processing of words, irrespective of modality. We argue that these findings not only support the view of word deafness as a stage in aphasia recovery but also further instantiate the important role of left superior temporal cortex in auditory linguistic processing.

Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in theAPOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss.
摘要: 高脂血症是指血脂水平过高，临床表现主要是脂质在血管内皮沉积所引起的动脉硬化。脂代谢异常与突发性聋之间的关系尚不明确。本文报道的1例突发性聋合并家族性高胆固醇血症患者。纯音测听提示单耳中频感音性听力损失，实验室检查提示脂代谢异常，基因检测提示APOA5基因杂合突变。诊断为突发性聋；高脂血症，药物治疗效果良好。本文旨在分析总结脂代谢异常与突发性聋可能存在的联系。.

Cogan\'s syndrome is a rare autoimmune inflammatory disease, characterized by interstitial keratitis and audio-vestibular signs. The syndrome was first described in 1945 by David G. Cogan. Then, it was only in 1980 when Haynes et al. proposed diagnostic criteria for patients with other symptoms and was qualified as atypical form of Cogan\'s syndrome. Herein, we report a case of a 28-year-old woman with atypical Cogan\'s syndrome. The patient was treated with corticosteroids and received a cochlear implant.