Types Of Sensorineural Hearing Loss Research Articles

Relationship Between Serum Brain-Derived Neurotrophic Factor and Neurotrophin-3 Levels and Hearing Thresholds in Patients With Age-Related Hearing Loss.

Age-related hearing loss (ARHL) is a general term used to describe the sensorineural type of hearing loss occurring in both ears in older adults. Neurotrophins are the most promising candidates for supporting the auditory nerve by increasing neuronal survival. This study aimed to help elucidate the pathophysiology of ARHL by determining whether any relationship exists between brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3) levels in serum samples from patients diagnosed with ARHL. Seventy-seven individuals, a study group of 41 patients diagnosed with ARHL, and a control group of 36 participants without hearing loss were evaluated. Serum samples were collected and used to measure serum BDNF and NT-3 levels with the new Nepenthe enzyme-linked immunosorbent assay method. Median pure-tone average results in the 2000, 4000, and 6000 Hz ranges were 52.5 (44.3-67.3) dB HL in the ARHL group and 13.5 (11.1-17.1) dB HL in the control group. The difference was statistically significant (p = .001). Although NT-3 and BDNF levels were both lower in ARHL patients than in participants without hearing loss, only the BDNF levels were significantly (p = .002) lower. Mean left and right ear word recognition scores were also lower in ARHL patients than in control groups. The ARHL group was further divided into two subgroups based on word recognition scores to evaluate significant differences in BDNF and NT-3 levels. No statistically significant difference was observed in BDNF and NT-3 levels between these subgroups. However, there was a significant difference in word recognition scores. Low BDNF levels in the ARHL group suggest that BDNF may play a role in the pathogenesis of ARHL. Patients with low (ARHL1) and high (ARHL2) word recognition scores were compared for the first time in the literature in terms of BDNF and NT-3 levels. However, the results were not statistically significant. This article is a preliminary study and was written to provide guidance for our next comprehensive project.

Identification of common stria vascularis cellular alteration in sensorineural hearing loss based on ScRNA-seq.

The stria vascularis (SV), located in the lateral wall of the cochlea, maintains cochlear fluid homeostasis and mechanoelectrical transduction (MET) activity required for sound wave conduction. The pathogenesis of a number of human inheritable deafness syndromes, age related hearing loss, drug-induced ototoxicity and noise-induced hearing loss results from the morphological changes and functional impairments in the development of the SV. In this study, we investigate the implications of intercellular communication within the SV in the pathogenesis of sensorineural hearing loss (SNHL). We aim to identify commonly regulated signaling pathways using publicly available single-cell transcriptomic sequencing (scRNA-seq) datasets. We analyzed scRNA-seq data, which was derived from studying the cochlear SV in mice with SNHL compared to normal adult mice. After quality control and filtering, we obtained the major cellular components of the mouse cochlear SV and integrated the data. Using Seurat's FindAllMarkers and FindMarkers packages, we searched for novel conservative genes and differential genes. We employed KEGG and GSEA to identify molecular pathways that are commonly altered among different types of SNHL. We utilized pySCENIC to discover new specific regulatory factors in SV subpopulation cells. With the help of CellChat, we identified changes in subpopulation cells showing similar trends across different SNHL types and their alterations in intercellular communication pathways. Through the analysis of the integrated data, we discovered new conserved genes to SV specific cells and identified common downregulated pathways in three types of SNHL. The enriched genes for these pathways showing similar trends are primarily associated with the Electron Transport Chain, related to mitochondrial energy metabolism. Using the CellChat package, we further found that there are shared pathways in the incoming signaling of specific intermediate cells in SNHL, and these pathways have common upstream regulatory transcription factor of Nfe2l2. Combining the results from pySCENIC and CellChat, we predicted the transcription factor Nfe2l2 as an upstream regulatory factor for multiple shared cellular pathways in IC. Additionally, it serves as an upstream factor for several genes within the Electron Transport Chain. Our bioinformatics analysis has revealed that downregulation of the mitochondrial electron transport chain have been observed in various conditions of SNHL. E2f1, Esrrb, Runx1, Yy1, and Gata2 could serve as novel important common TFs regulating the electron transport chain. Adm has emerged as a potential new marker gene for intermediate cells, while Itgb5 and Tesc show promise as potential new marker genes for marginal cells in the SV. These findings offer a new perspective on SV lesions in SNHL and provide additional theoretical evidence for the same drug treatment and prevention of different pathologies of SNHL.

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.

Uncorrected hearing loss can result in detrimental sequelae. Research addressing clinical presentation and genetic testing would inform clinical decision making. A retrospective chart review of 96 patients aged 1 month to 46 years (median age = 6 years) diagnosed with hearing loss or deafness and who underwent genetic testing at University of Rochester Medical Center from 2011 to 2021. Chi-square and Fisher's exact tests examined the relationship between a diagnostic positive genetic test result and various characteristics of hearing loss, including congenital (n = 52), noncongenital (n = 34), prelingual (n = 53), postlingual (n = 33), progressive (n = 13), not progressive (n = 47), bilateral (n = 67), unilateral (n = 26), sensorineural (n = 68), conductive (n = 14), mixed (n = 5), syndromic (n = 10), and nonsyndromic (n = 87) hearing loss. We also examined the number of patients with presence of developmental disabilities (n = 35), having a first-degree relative with hearing loss (n = 19), having hearing aids or cochlear implants (n = 45), and having a multisystem presentation prior to diagnosis (n = 45). Patients with sensorineural hearing loss (44.1%) had significantly more diagnostic positive results than those with mixed (0%) or conductive hearing loss (21.4%), p = .004. However, significantly fewer patients with disabilities (19.4%) had diagnostic positive tests than those without disabilities (43.3%), p < .05. More patients with a multisystem presentation were also found to have syndromic causes of hearing loss (23.3%) than patients who did not have a multisystem presentation, p < .05. Our study suggests a significant association between sensorineural type of hearing loss and a diagnostic positive genetic test result, while the presence of disabilities was significantly associated with a nondiagnostic genetic test result. Knowledge of these findings is critical for understanding the cause of the hearing loss, identifying other associated symptoms, and determining risk to family members.

Kanıtlanmış Vestibüler ve İşitme Kaybı olan Meniere Hastalarında Supresyon Baş Savurma Paradigması (SHIMP) ve Video Baş Savurma Testinin (vHIT) Değerlendirilmesi

This study aimed to examine the results of the video head impulse test (vHIT), and suppression head impulse paradigm (SHIMP) in adult diagnosed with definite Meniere’s disease (MD). This study was conducted with 20 patients aged 18-45 years with canal paresis and sensorineural type hearing loss in symptomatic ears, who were diagnosed with unilateral definite MD. The subjects were assessed with conventional audiometry (0.125–8 kHz), the bithermal binaural air caloric test, vHIT, and SHIMP. The mean SHIMP vestibulo-ocular reflex (S-VOR) gain of the MD side was 0.69, and that of the healthy side was 0.77. The S-VOR gain values were statistically lower than the mean vHIT VOR gain (V-VOR) values on both sides (p&amp;lt;0.001). There was no significant difference between the MD and healthy sides in terms of the anti-compensatory saccades (ACSs) latency and amplitude and S-VOR gain (p&amp;gt;0.05). In the MD group, the vHIT results were abnormal in 35% (7/20 ears) of the ears, and the SHIMP results were abnormal in 50% (10/20 ears). On the healthy side, the vHIT results were abnormal in 10% (2/20 ears) of the ears, and the SHIMP results were abnormal in 35% (7/20 ears). In this study, the V-VOR and S-VOR gains, vHIT saccades, SHIMP saccade latency, and SHIMP saccade amplitude were not found to be beneficial parameters in differentiating affected and healthy ears in the patients with MD. In other words, contrary to expectations, vHIT and SHIMP tests were not sufficient to detect pathological involvement in Meniere's disease.

Advancements and future prospects of adeno-associated virus-mediated gene therapy for sensorineural hearing loss.

Sensorineural hearing loss (SNHL), a highly prevalent sensory impairment, results from a multifaceted interaction of genetic and environmental factors. As we continually gain insights into the molecular basis of auditory development and the growing compendium of deafness genes identified, research on gene therapy for SNHL has significantly deepened. Adeno-associated virus (AAV), considered a relatively secure vector for gene therapy in clinical trials, can deliver various transgenes based on gene therapy strategies such as gene replacement, gene silencing, gene editing, or gene addition to alleviate diverse types of SNHL. This review delved into the preclinical advances in AAV-based gene therapy for SNHL, spanning hereditary and acquired types. Particular focus is placed on the dual-AAV construction method and its application, the vector delivery route of mouse inner ear models (local, systemic, fetal, and cerebrospinal fluid administration), and the significant considerations in transforming from AAV-based animal model inner ear gene therapy to clinical implementation.

PENGARUH PAPARAN KEBISINGAN WEAVING MACHINE TERHADAP RESIKO TERJADINYA HEARING IMPAREMENT PADA KARYAWAN PT. KECUBUNG MOJOGEDANG

Noise-induced hearing loss is a sensorineural type of hearing loss caused by exposure to loud enough noise over a long period of time. Hearing loss due to noise has an impact on life. The diagnosis of noise-induced hearing loss was obtained from a hearing examination, pure tone audiometry and audiometric examination results. The impact of noise-induced hearing loss is in several aspects, namely functional, social and emotional aspects, as well as economic aspects. This study aims to determine the effect of the duration of exposure to weaving machine noise on the risk of hearing imparement on employees of PT. Kecubung Mojogedang. This research is a quantitative research using a cross sectional design. The sampling technique is Total Sampling. The sample used was 40 people. The data collected will be analyzed by univariate and bivariate, the data analysis technique in this study uses the contingency coefficient test. The results of the bivariate analysis using the Contingency C coefficient test obtained a value of 0.367 with a significance (p) of 0.013. The significance value (p) is smaller than = 0.05, meaning that Ho is rejected and Ha is accepted, which means that there is an effect of the duration of noise exposure with the risk of hearing loss in employees who work at PT. Kecubung Mojogedang

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created. It was used to estimate the accuracy of pathogenicity prediction using the known (from dbNSFP4.4) method and a new one. The new method (ConStruct) for the creation of the protein-centric classification model is based on the use of Random Forest for the analysis of missense variants in exons of the OTOF gene. A system of predictor variables was developed based on the modern understanding of the structure and function of the otoferlin protein and reflecting the location of changes in the tertiary structure of the protein due to mutations in the OTOF gene. The conservation values of nucleotide substitutions in genomes of 100 vertebrates and 30 primates were also used as variables. The average prediction of balanced accuracy and the AUC value calculated by the 5-fold cross-validation procedure were 0.866 and 0.903, respectively. The model shows good results for interpreting data from the targeted sequencing of the OTOF gene and can be implemented as an auxiliary tool for the diagnosis of ANSD in the early stages of ontogenesis. The created model, together with the results of the pathogenicity prediction of SAVs via other known accurate methods, were used for the evaluation of a manually created set of 1302 VUS related to ANSD. Based on the analysis of predicted results, 16 SAVs were selected as the new most probable pathogenic variants.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

BackgroundPerrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases due to TWNK variants have included neurologic features, such as ataxia and axonal sensorimotor neuropathy.Case presentationA 4.5-year-old female presented to neuromuscular clinic due to ataxia. Neurological examination revealed truncal ataxia and steppage gait, reduced deep tendon reflexes, and axonal sensorimotor polyneuropathy. Auditory brainstem response testing revealed an uncommon type of sensorineural hearing loss known as auditory neuropathy/auditory synaptopathy (AN/AS) affecting both ears. Magnetic Resonance Imaging (MRI) revealed subtle cauda equina enhancement. Nerve conduction studies led to a provisional diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), and intravenous immune globulin (IVIG) was initiated. The patient was unresponsive to treatment, thus whole exome testing (WES) was conducted in tandem with IVIG weaning. WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made.ConclusionsPerrault Syndrome should be considered in the differential for children who present with bilateral sensorineural hearing loss, axonal polyneuropathy, and ataxia. Further examination includes testing for ovarian dysgenesis and known PRLTS genetic variants.

Hearing Loss among Children Treated with Chemotherapy at Paediatric Oncology Department in Tanzania

Chemotherapy-induced hearing loss bears significant impairment of skills, language development, and cognitive performance in children. Hearing loss pattern is mostly bilateral and sensorineural, affecting high frequencies above 8 kHz, which is important in speech discrimination and background noise perception. Pathophysiology is related to damage to the basal cochlea outer hair cell, which can progress to those in the apical turn. Despite challenges encountered during monitoring chemotherapy ototoxicity in children, monitoring is very advantageous since it guides in the early identification of hearing loss and provides proper intervention such as treatment interruption, dose modification, and suspension of drugs. This study aimed to determine the prevalence and pattern of hearing loss among children treated with chemotherapy at the paediatric department in a Tertiary hospital. This was a prospective longitudinal study. A total of 52 participants were enrolled, whereby hearing assessment was done before and after receiving two cycles of chemotherapy. Tympanometry was done after otoscopic examination in all participants, play and pure tone audiometry for participants aged 2 to 6 years and 7 years, respectively, and a destruction test for those below 2 years of age. Statistical Package for Social Science (SPSS) version 26 was used to obtain cross-tabulations. Fifty-two participants with a mean age of 6.6±2.3 years were enrolled in the study. There was a male preponderance with a male-to-female ratio of 3:1. Prevalence of hearing loss after chemotherapy was 15.4%. The pattern of hearing loss was predominantly bilateral, high frequency, and sensorineural type of hearing loss. Nasopharyngeal tumours were related to hearing loss as compared to other tumour sites. Hearing loss was frequently associated with the use of cisplatin as compared to vincristine and carboplatin. The commonly used chemotherapies such as cisplatin, carboplatin, and vincristine can cause hearing loss, which can affect the quality of life and therefore require audiological monitoring

Audiogram Configuration, Molecular Etiology, and Outcome of Cochlear Implantation in Postlingual Auditory Neuropathy Spectrum Disorder.

To explore the diverse molecular etiologies of postlingual auditory neuropathy spectrum disorder (ANSD) and report on the electrically evoked compound action potential (ECAP) thresholds and the outcome of cochlear implantation (CI). Patients with late-onset, progressive hearing loss who went through molecular genetic testing were enrolled. Type of sensorineural hearing loss (SNHL) was classified as flat, reverse-slope, midfrequency, downsloping, or ski slope. We identified postlingual ANSD subjects through diagnostic tracts applied differently depending on the degree of SNHL. For CI recipients, individual ECAP thresholds, postoperative speech perception abilities, and the genetic cause were analyzed. The detection rate of ANSD among patients with postlingual SNHL was 5.1% (15/293 probands). Diverse genetic etiologies were identified in 7 (46.6%) of the 15 postlingual ANSD subjects, the genetic cause being found exclusively in subjects with reverse-slope SNHL. The pattern of intraoperative ECAP responses was also diverse and showed some correlation with the genetic etiology. Despite the diverse molecular etiology and ECAP responses, CI in postlingual ANSD patients, including those with features involving the postsynaptic component, yielded significant improvements in speech understanding. This study proposes a differentiated diagnostic approach that focuses on both poor speech discrimination and reverse-slope hearing loss for the diagnosis of ANSD. Based on the improvement of speech understanding from all cochlear implantees with ANSD as well as the correlation between the genetic etiology and ECAP thresholds, we suggest that CI can significantly benefit ANSD subjects even those with unknown etiologies unless there is overt peripheral neuropathy.

ROLE OF BRAINSTEM EVOKED RESPONSE AUDIOMETRY IN DETECTING TYPE OF SENSORINEURAL HEARING LOSS IN PAEDIATRIC AGE-GROUP

Objectives: Brainstem evoked response audiometry (BERA) is a non-invasive tool which is used to assess the early hearing loss in children. The objectives of the study were to find out the age-wise distribution and type of sensorineural hearing loss (SNHL) diagnosed in paediatric population. Methods: The present hospital based prospective study conducted on 4o children suffering from sensorineural hearing loss. Age wise distribution and type of sensorineural hearing loss was assessed in these children using brainstem evoked response audiometry. Results: Out of 40 children studied most of the patients (55%) belongs to 1-5 years age group.16 patients (40%) belong to 6-11 years age group.0nly 2 patients (5%) were observed in 12 years age group. Out of 40 children, 20% presented with Retro cochlear type (8 children) and 80% presented with Cochlear type (32 children) of sensorineural hearing loss

Effects of Chemoradiation Therapy on Hearing in Patients with Malignancy of Head and Neck.

To study effects of chemoradiation therapy on hearing in patients with malignancy of head and neck. Patients receiving drugs other than cisplatin as well as those with any otology-related pathology or abnormalities were excluded from the study. Patients with primary biopsy-proven malignancy of the Nasopharynx, Oropharynx, Paranasal Sinuses, Oral Cavity, and Parotid with chemoradiation by cisplatin and different radiation modalities were all eligible. Areas of interest and OARs are indicated on CT images. All patients' hearing was assessed using pure tone audiometry at the beginning of treatment, at its conclusion, and six months later. Variations in pure tone thresholds from baseline and CTCAE - Common Terminology Criteria for Adverse Events grading are related to cochlear dose. The study involves 75 patients. At cochlear dosage levels of more than 40Gy, significant SNHL (>10 dB loss) is seen. Absolute PTA threshold values do not statistically differ from baseline to completion at any frequency. For 4000 and 8000Hz, the absolute PTA threshold values differed from baseline to follow-up, but only for 8000Hz was the difference statistically significant after six months of follow-up. Following treatment, 64% of patients had grade I CTCAE scoring and 16% and 12%, respectively, had otitis media with effusion and Eustachian tube dysfunction. The inner ear may be harmed in patients receiving radiation to the head and neck. Radiation-induced SNHL typically goes unreported in routine clinical practise because of its long-term nature. In the group of head and neck tumours with high-risk locations, nearly 90% of patients with SNHL were affected. Therefore, it's critical to reduce cochlear dosage in these patient populations. More investigation is needed to distinguish between cochlear and retro-cochlear types of sensorineural hearing loss.

Evaluating the Incidence of Audiological Derangement in Cases of Thyroid Hormone Imbalance.

Thyroid hormone disorders are both congenital as well as acquired. According to a projection from several studies on thyroid diseases, it has been estimated that about 42 million people in India suffer from various kind of thyroid diseases (1) Thyroid hormone is closely associated with the development of the cognitive functions, thus deficiency of this hormone is said to have effect an overall impact on proper functioning of the body. The normal functioning of the thyroid gland and adequate levels in the blood are Needed for the formation and functioning of the middle ear, inner ear and the central auditory pathway. Thus, congenital hypothyroidism (CH) can be a potential risk factor for hearing impairment (2) if the hormones decrease or are absent during the development of the peripheral and central auditory system structures. This study was undertaken with the objective of studying the pattern of hearing loss in patients who have a deranged thyroid profile. The study was conducted among 50 patients who were known cases of thyroid disorder in the Otorhinolaryngology Department of our institute. The study was hospital based observational clinical study. The patients were subjected to thyroid profile test After this, those who satisfied the inclusion and exclusion criteria and were included, after detailed history and examination, patients were subjected to PTA, hearing loss was classified according to WHO guidelines. The age group of the patients was from 30-55 yrs. with the mean age being 42. On the basis of the t3, t4 and tsh levels, in the current study out of 50 patients,40 were hypothyroid (80%),with male to female ratio of 6:4. On pure tone audiometry, 15 patients had decreased hearing. The other 25 had normal hearing. The incidence of hearing loss in hypothyoroid patients in our study is 37.5%. On analaysis the PTA reports of these patients,9 patients (22.5%) had conductive hearing loss of mild variety, the mean value of hearing loss being 26.2 decibels. 2 (5%) patients had mixed variety of hearing loss, with sensorineural hearing loss at higher frequencies. All the remaining patients had sensorineural type of hearing loss, i.e., 10%. Of the 10 patients, that have hyperthyroidism 8 were female and 2 were male. 3 patients (30%) had hearing loss, all these 3 patients reported hearing losses at high frequencies and had moderate type of sensorineural hearing loss. Conclusion- From our current study, we could see that hearing loss is present in both extremes of thyroid hormone imbalance The dominant variety of hearing loss in thyroid disorder is sensorineural type, because thyroid hormone imbalance affects the inner ear function.

Advances in the study of fluctuating sensorineural hearing loss

Fluctuating sensorineural hearing loss（FSNHL） is a special type of sensorineural hearing loss, which can be manifested in many clinical diseases. In this paper, some clinical diseases associated with FSNHL are summarized, such as Meniere's disease, large vestibular aqueduct syndrome, acute low frequency sensorineural hearing loss, delayed endolymphatic hydrops, autoimmune inner ear disease and syndromes leading to FSNHL. The pathogenesis, diagnosis and treatment of FSNHL were summarized in order to improve clinicians' understanding of FSNHL, reduce the probability of misdiagnosis of related diseases and improve the prognosis of patients.

Patient Acceptance of Novel Therapeutic Options for Sensorineural Hearing Loss-A Pilot Study.

Numerous preclinical experiments over the past years have shown the potential of novel therapeutic approaches for sensorineural hearing loss (SNHL) that are now awaiting clinical translation. In this pilot study, we aimed to evaluate the patient acceptance of these future innovative therapies in individuals with SNHL. Cross-sectional exploratory pilot study. Tertiary care academic hospital. In total, 72 individuals (43 female and 29 male, 59 affected subjects and 13 parents) with different types of SNHL were surveyed between May 2020 and November 2020. The interest/willingness to consider new therapeutic options (viral vectors, stem cells, CRISPR/Cas) for themselves or their children was assessed with the help of a questionnaire, and the answers were matched with a quality-of-life score and sociodemographic as well as clinical characteristics. Acceptance of new therapeutic strategies for SNHL in a representative population. Even with the currently associated treatment uncertainties, 48 patients (66.7%) suffering from SNHL stated that new therapies could be a potential future option for them. Half of these (24 individuals; 33.3%) expressed high acceptance toward the novel strategies. Subjects with a positive attitude toward new therapies in general and viral vectors specifically were significantly older. With two-thirds of patients affected by SNHL expressing acceptance toward novel therapies, this pilot study highlights the importance of investigating such attitudes and motivates further translational research to offer additional treatment strategies to this patient population.

Noise-induced Hearing Loss among Patients Requiring Pure Tone Audiometry Evaluation in a Tertiary Care Centre: A Descriptive Cross-sectional Study

Noise-induced hearing loss is a type of sensorineural hearing loss caused by long-term exposure to loud noise. This study provides insight into hearing loss problems the general population faces. The study aimed to find out the prevalence of noise-induced hearing loss among patients needing pure tone audiometry evaluation in a tertiary care centre. A descriptive cross-sectional study was conducted from 1 January 2021 to 30 July 2021 among patients requiring pure tone audiometry evaluation in the outpatient Department of Otorhinolaryngology in a tertiary care centre. The study was conducted after ethical approval from Institutional Review Committee (Reference number: 2812202001). Pure tone audiometry was used to diagnose noise-induced hearing loss. Convenience sampling was done. Point estimate and 95% Confidence Interval were calculated. Out of 690 patients, 14 (2.02%) (0.97-3.06, 95% Confidence Interval) were diagnosed with noise-induced hearing loss. The prevalence of noise-induced hearing loss among patients requiring pure tone audiometry evaluation was similar to other studies conducted in similar settings. audiometry; noise-induced hearing loss; tinnitus.

Hearing Assessment among Sudanese Rheumatoid Arthritis Patients versus Non-Rheumatoid Arthritis Individuals

Background: Rheumatoid arthritis (RA) disease is one of the most common chronic autoimmune diseases that affect many body systems including the auditory system. Objectives: To assess hearing thresholds and to ascertain types of hearing loss among Sudanese rheumatoid arthritis patients attending rheumatology clinic in Omdurman military hospital and matching them with non-rheumatoid arthritis subjects. Methodology: This descriptive and analytic (comparative) hospital based cross sectional study conducted from October 2020 to April 2021 which include 66 RA patients with age range (21 - 60 years) matched with 41 non-rheumatoid arthritis group sharing same characteristics (nation, gender and age). Pure tone audiometry, tympanometry and acoustic reflexes were done for all RA patients and matched groups. Statistical analysis of the data was carried out using the association and correlation tests for associations and t-test for independent samples. Results: Thirty-six (54.5%) of RA patients had hearing impairment versus 9 (22%) non-RA in PTA test. Twenty-four RA cases (36.3%) showed asymmetrical hearing threshold and graph in PTA between right and left ears. Thirty-four (51.5%) right and 36 (54.5%) left ears were normal degree followed by 23 (34.8%) in the right and 24 (36.4%) in the left ears were mild degree hearing loss. Among hearing impaired RA patients; 20 right ears (62.5%) and 19 left ears (65.5%) had sensorineural hearing loss (SNHL), conductive hearing loss 11 (34.4%) right ears and 9 (31%) left ears. Mixed HL was in 1 right ear (3.1%) and 1 left ear (3.5%). The most common degree of SNHL type was mild in (75%) and (78.9%) in right and left ears respectively, moderate and moderate severe were (20%) in the right and (15.7%) in the left ears. Fifty-eight right ears (87.9%) and 56 left ears (84.8%) had type A tympanogram while 7 (10.6%) right ears and 9 left ears (13.6%) were type As tympanogram, one right and one left ears had type Ad tympanogram. Acoustic reflex was impaired in 17 right ears and 17 left ears (25.8% for both). There were significant statistical differences in most of the specific frequency means between the study group and non-rheumatoid group in the right and left ears p-value 0.05). Also there was no significant statistical association between anti-rheumatic drugs used and hearing threshold of RA patients (p-value > 0.05). Conclusion: Hearing impairment especially sensorineural type is common in Sudanese rheumatoid arthritis patients. Conductive hearing loss is less common and most likely due to ossicles diarthrodial joint stiffness. No influence of the disease activity or used anti-rheumatic drugs on hearing threshold of the RA patients was detected in this study.

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

Auditory synaptopathy/neuropathy (AS/AN) is a distinct type of sensorineural hearing loss in which the cochlear sensitivity to sound (i.e. active cochlear amplification by outer hair cells) is preserved whereas sound encoding by inner hair cells and/or auditory nerve fibers is disrupted owing to genetic or environmental factors. Autosomal-dominant auditory neuropathy type 2 (AUNA2) was linked either to chromosomal bands 12q24 or 13q34 in a large German family in 2017. By whole-genome sequencing, we now detected a 5500bp deletion in ATP11A on chromosome 13q34 segregating with the phenotype in this family. ATP11A encodes a P-type ATPase that translocates phospholipids from the exoplasmic to the cytoplasmic leaflet of the plasma membrane. The deletion affects both isoforms of ATP11A and activates a cryptic splice site leading to the formation of an alternative last exon. ATP11A carrying the altered C-terminus loses its flippase activity for phosphatidylserine. Atp11a is expressed in fibers and synaptic contacts of the auditory nerve and in the cochlear nucleus in mice, and conditional Atp11a knockout mice show a progressive reduction of the spiral ganglion neuron compound action potential, recapitulating the human phenotype of AN. By combining whole-genome sequencing, immunohistochemistry, in vitro functional assays and generation of a mouse model, we could thus identify a partial deletion of ATP11A as the genetic cause of AUNA2.

Integrative Functional Transcriptomic Analyses Implicate Shared Molecular Circuits in Sensorineural Hearing Loss.

Sensorineural hearing loss (SNHL) is referred to as the most common type of hearing loss and typically occurs when the inner ear or the auditory nerve is damaged. Aging, noise exposure, and ototoxic drugs represent three main causes of SNHL, leading to substantial similarities in pathophysiological characteristics of cochlear degeneration. Although the common molecular mechanisms are widely assumed to underlie these similarities, its validity lacks systematic examination. To address this question, we generated three SNHL mouse models from aging, noise exposure, and cisplatin ototoxicity, respectively. Through constructing gene co-expression networks for the cochlear transcriptome data across different hearing-damaged stages, the three models are found to significantly correlate with each other in multiple gene co-expression modules that implicate distinct biological functions, including apoptosis, immune, inflammation, and ion transport. Bioinformatics analyses reveal several potential hub regulators, such as IL1B and CCL2, both of which are verified to contribute to apoptosis accompanied by the increase of (ROS) in in vitro model system. Our findings disentangle the shared molecular circuits across different types of SNHL, providing potential targets for the broad effective therapeutic agents in SNHL.

Computed tomography evaluation of temporal bone fracture and hearing loss: A narrative review with systematic analysis

In the modern world, the most common cause of head trauma causing temporal bone fracture in adults is road traffic accidents with high impact force. Hearing loss is one of the most common complaints after head trauma involving temporal bone fracture. Because of other life-threatening conditions associated with road traffic accidents, fractures of temporal bone is often overlooked. If these fractures are detected early, there complications can be avoided with conservative or surgical intervention. In this research following databases were used to search for published as well as unpublished studies over the period 2000–2021 in the English language: PubMed, EMBASE, and Web of Science. The terms used to generate a search were as follows: Temporal bone fracture and hearing loss. Those studies which did not fulfil the inclusion criteria were removed. Case reports, documentaries, and duplicate data were excluded. Most common cause of injury leading to temporal bone fracture was road traffic accident. Majority of cases were males belonging to the age group of 31–40 years and average age was 36 years. According to traditional classification, majority had longitudinal fracture followed by transverse fracture. According to newer classification, otic capsule sparing was more common in comparison to otic capsule involvement. The conductive type of hearing loss was more common and it was found associated with longitudinal fracture while sensorineural type of hearing loss was associated with transverse type of fracture. The conductive type of hearing loss was usually common in otic capsule sparing while sensorineural type of hearing loss is associated with otic capsule involvement. Otic capsule sparing is mostly seen in longitudinal fracture and transverse fracture involves otic capsule involvement. Head trauma due to fast moving vehicles is the most common cause of injury leading to temporal bone fracture. Because of complex structure of temporal bone identification of line of fracture is necessary which requires high-resolution computed tomography (CT) of the head. High-resolution CT not only helps in knowing anatomy and types of fracture but also it helps in knowing sequelae of various types of fractures which helps in treating physician weather to go for conservative or surgical intervention.