Hearing instability and abnormal auditory pathways in infants with congenital cytomegalovirus infection: An audiological and radiological single-centre prospective cohort analysis.

INTRODUCTION: This prospective cohort study aims to investigate the hearing dynamics and the changes in the central auditory pathways in infants with congenital cytomegalovirus (cCMV) infection. MATERIALS AND METHODS: cCMV-infected neonates aged ≤3 weeks old were recruited and underwent clinical and laboratory tests to detect viremia and symptomatic infection, hearing examinations at three and six months of age, and radiological imaging of brain auditory pathways using diffusion tensor imaging. RESULTS: From 26 eligible infants (52 ears), we detected symptomatic infection in nine (34.6%), viremia in 14 (14/25; 56.0%) and sensorineural hearing loss (SNHL) in 14 infants (53.8%). We observed 40 ears (76.9%) with unstable hearing thresholds, 17 (42.5%) of which fluctuated. Hearing fluctuation and progressivity were more common in symptomatic infection (66.7% vs. 14.7%, p<0.001; and 38.9% vs. 2.9%, p=0.002; respectively). A substantial proportion of ears had reduced fractional anisotropy (FA) in the medial geniculate body (59.1%), superior olivary nucleus (45.5%), trapezoid body (40.9%), auditory radiation (36.4%) and inferior colliculus (31.8%). Symptomatic infection was associated with an increased FA in the medial geniculate body (mean difference, MD: 0.12; 95% Confidence Intervals, 95%CI: 0.03, 0.22) and viremia in the inferior colliculus (MD: 0.09; 95%CI: 0.02, 0.16). An FA in the inferior colliculus of ≥0.404 had a sensitivity and specificity of 68.8% and 83.3% in predicting viremia (area under the curve 0.823; 95%CI: 0.633, 1.000, p=0.022). CONCLUSION: SNHL along with its fluctuation and progression are common in cCMV-infected infants. cCMV infection may induce structural changes in the central auditory pathway.

Early Audiometric Intervention in Bacterial Meningitis: Cochlear Implantation in a 10-Week-Old Child.

Sensorineural hearing loss is a well-known complication of Streptococcus pneumoniae meningitis. Given the propensity for fibrosis and ossification of the cochlea in bacterial meningitis, implantation must be performed in a timely fashion because a delayed attempt at implantation can frustrate obtaining an optimal technical result or lead to an inability to implant. Obtaining optimal audiometric outcomes is reliant on early hearing screening in patients with streptococcal meningitis. In the absence of standardized protocols, audiometric testing is often overlooked or delayed in the workup and management of meningitis. Our institution implemented a meningitis protocol with a particular focus on timing of audiometric testing in patients with meningitis. We present a patient diagnosed with streptococcal meningitis in the first week of life. Early hearing screening allowed the diagnosis of profound unilateral sensorineural hearing loss and subsequent cochlear implantation at 10 weeks of age, the youngest described in the medical literature. Despite early implantation, there was cochlear fibrosis at the time of implantation. Fortunately, the majority of electrodes were implanted to achieve a serviceable hearing outcome. Serial magnetic resonance imaging scans were obtained because of her contralateral ventriculoperitoneal shunt that allowed unique visualization of the progression of cochlear fibrosis over time. This case demonstrates the importance of including audiometric testing in a standardized meningitis protocol to diagnose hearing loss in a timely and accurate way and to achieve optimal long-term hearing outcomes.

[A multicenter study on the effects of congenital cytomegalovirus infection on hearing loss].

Objective: To assess the clinical features and effectiveness of antiviral therapy in newborns with sensorineural hearing loss (SNHL) caused by congenital congenital cytomegalovirus (cCMV) infection, and to speculate the risk factors for poor hearing outcomes. Methods: A multicenter prospective cohort study wasconducted, enrolling 176 newborns diagnosed with cCMV at four research centers in Zhejiang Province from March 1, 2021, to April 30, 2024. Clinical characteristics at birth were recorded and hearing was followed up. The children were divided into groups based on their condition at birth, specifically into asymptomatic, mild symptom, and moderate to severe symptom groups. Additionally, they were divided into SNHL and normal hearing groups based on the results of air conduction brainstem audiometry at birth. And they were also divided into treatment and untreated groups according to antiviral treatment. Mann Whitney U test, and chi square test were used for inter group comparison to analyze the differences in clinical features between different disease groups, and to analyze the effects of clinical features, antiviral therapy, and other factors on hearing improvement. Logistic regression analysis was employed to identify the risk factors influencing hearing outcomes. Results: Among the cohort of 176 children diagnosed infection with cCMV, 90 cases were male and 86 cases were female. Of these, 79 cases were asymptomatic, 12 cases classified as mild cCMV and 85 cases as moderate to severe cCMV. Fifty cases belonged to SNHL group, with different degrees of severity, including 30 cases of mild, 9 cases of moderate, 5 cases of severe, and 6 cases of extremely severe SNHL. Among the 121 cases in the normal hearing group, 2 cases (1.7%) exhibited late-onset hearing loss despite having normal hearing at birth. Among 81 cases (46.0%) who completed the hearing follow-up, 71 cases (87.7%) had good hearing outcomes and 10 cases (12.3%) had poor hearing outcomes. Among the 81 children, 29 cases (35.8%) had SNHL at birth. During follow-up, the hearing threshold improved in 19 cases (65.5%), remained stable in 7 cases (24.1%) and progressed in 3 cases (10.3%). A total of 26 cases in the treatment group and 55 cases in the untreated group completed the hearing follow-up assessment. The rate of hearing improvement in the treatment group was found to be higher compared to the untreated group (13 cases (50.0%) vs. 6 cases (10.9%), χ2=15.00, P<0.01), with individuals in the treatment group having a 4.58 times greater likelihood of experiencing hearing improvement (RR=4.58,95%CI 1.96-10.70, P<0.05). However, no statistically significant difference was observed in hearing outcomes between the antiviral treatment group and the untreated group (RR=0.90, 95%CI 0.57-1.41, P=0.517). Multivariate analysis further confirmed SNHL (OR=11.58, 95%CI 2.10-63.93, P=0.005) and preterm birth (OR=4.98, 95%CI 1.06-23.41, P=0.042) as independent risk factors for poor hearing outcomes. Conclusions: SNHL resulting from cCMV infection presents symptoms at birth and can be improved by antiviral therapy. Poor hearing outcomes are associated with SNHL and prematurity.

Fatal Presentation of Susac Syndrome in a Congenitally Deaf Patient With a Cochlear Implant.

OBJECTIVE: To report a fatal case of Susac syndrome in a congenitally deaf patient with a cochlear implant and a history of migraines, emphasizing the diagnostic challenges in patients with preexisting conditions. PATIENT: A 33-year-old male with congenital hearing loss, a cochlear implant, and chronic migraines who presented with mild subacute auditory disturbance and headaches that later progressed to severe encephalopathy. INTERVENTION: Explantation of a non-magnetic resonance imaging (MRI) compatible cochlear implant followed by MRI, fundoscopy, and the administration of immunosuppressive medications. MAIN OUTCOME MEASURES: Diagnosis was confirmed by characteristic MRI appearance and the presence of a hemi-retinal artery occlusion. RESULTS: After weeks of immunosuppressive treatment, the patient died of a global cerebral ischemic event of unknown origin. CONCLUSIONS: For patients with preexisting sensorineural hearing loss and cochlear implants, Susac syndrome poses a diagnostic challenge. Auditory disturbances in the absence of cochlear implant failure should prompt further evaluation for visual disturbances and encephalopathy. MRI and fundoscopy should be performed to detect other features of the disease.

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.

BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

Binaural hearing aid intervention for a patient with nonserviceable hearing loss after surgery for vestibular schwannoma: A case report.

A vestibular schwannoma is a benign tumor; however, the schwannoma itself and interventions can cause sensorineural hearing loss. Most vestibular schwannomas are unilateral tumors that affect hearing only on one side. Attention has focused on improving the quality of life for patients with unilateral hearing loss and therapeutic interventions to address this issue have been emphasized. Herein, we encountered a patient who was a candidate for hearing preservation surgery based on preoperative findings and had nonserviceable hearing after the surgery, according to the Gardner-Robertson classification. Postoperatively, the patient had decreased listening comprehension and ability to localize sound sources. He was fitted with bilateral hearing aids, and his ability to localize sound sources improved. Although the patient had postoperative nonserviceable hearing on the affected side and age-related hearing loss on the unaffected side, hearing aids in both ears were useful for his daily life. Therefore, the patient was able to maintain a binaural hearing effect and the ability to localize the sound source improved. This report emphasizes the importance of hearing preservation with vestibular schwannomas, and the demand for hearing loss rehabilitation as a postoperative complication can increase, even if hearing loss is nonserviceable.

Sudden Sensorineural Hearing Loss Before COVID-19, During COVID-19, and After Inactivated Vaccination: Experience From a Tertiary Referral Center in China.

OBJECTIVE: The purpose of this study was to investigate the incidence rate and audiological characteristics of sudden sensorineural hearing loss (SSHL) before the COVID-19 pandemic, during the COVID-19 pandemic, and after inactivated vaccination, and to analyze whether the novel coronavirus or inactivated vaccination have an impact on hearing loss. MATERIALS AND METHODS: The clinical data of all patients who visited the hospital in July 2019 (before pandemic), July 2020 (during pandemic) and July 2021 (after the inactivated vaccination at least the first basic dose of COVID-19 vaccination) were retrospective analyzed. All patients diagnosed with sudden sensorineural hearing loss in these three periods were screened, and their incidence rate, hearing characteristics, and prognosis were compared. RESULTS: Overall, the incidence rates of sudden hearing loss in July 2019, July 2020, and July 2021 were 0.59, 0.60, and 0.52% (25 of 4225, 20 of 3322, 28 of 5432), respectively, without significant difference ( χ2 = 0.372, p = 0.830). A significant difference was noted in the incidence of hypertension ( p = 0.02), whereas no significant difference was noted in age ( p = 0.591, p = 0.66), sex ( p = 0.19, p = 0.08), main symptoms ( p = 0.18, p = 0.15), side ( p = 0.483, p = 0.89), audiogram shape ( p = 0.56, p = 0.989), average hearing threshold of affected frequency ( p = 0.81, p = 0.89), average hearing threshold of normal ear affected frequency ( p = 0.65, p = 0.68), average hearing threshold of affected frequency after treatment ( p = 0.49, p = 0.38), days between symptoms onset and hospital visit ( p = 0.62, p = 0.85), treatment plan ( p = 0.551, p = 0.474), and effectiveness ( p = 0.104, p = 0.050). CONCLUSION: Our study failed to find a correlation between the novel coronavirus pandemic and inactivated vaccination and SSHL, and there was no direct evidence supporting that COVID-19 or inactivated vaccination had an impact on the incidence rate and prognosis of SSHL patients.

Risk Factors, Complications, and Treatment Modalities for Sudden Sensorineural Hearing Loss in Pregnant Women: A Systematic Review and Meta-analysis.

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) during pregnancy is a rare condition and has not been much studied. The study aimed to perform a systematic review and meta-analysis of the risk factors, complications, and treatment modalities for SSNHL in pregnant women. MATERIALS AND METHODS: PubMed, Web of Science, Scopus, ProQuest, and Google Scholar were used for the literature search. The Cochrane technique for assessing risk of bias was used for the article quality appraisal, and RevMan 5.4 was used for conducting the meta-analysis. Standard mean difference (SMD) and odds ratios with a 95% confidence interval (95% CI) were utilized. Heterogeneity and publication bias were assessed using the I-square (I2) test statistic and the Egger's test, respectively. RESULTS AND DISCUSSION: The seven primary studies employed prospective and retrospective study designs. The meta-analysis showed that there were fewer risk variables for SSNHL in the experimental group compared with those in the control group (SMD = -0.45 to 3.24, 95% CI = -3.063.63 to 2.16-2.85), indicating that the analysis revealed an insignificant difference. However, the treated patients presented hearing improvement, suggesting a significant analysis (SMD = -0.6710.20, 95% CI = -1.2713.51 to -0.066.88). Furthermore, after therapy, substantial differences were observed in SMD between the two groups (SMD = -0.7415.18, 95% CI = -1.2423.85 to -0.256.40) in favor of the experimental group patients, based on the analysis results of four included studies. However, the I2-value of 0% showed that the heterogeneity was low. CONCLUSION: SSNHL during pregnancy is a notably rare condition with an unknown cause. However, hormonal fluctuations, particularly increased levels of estrogen and progesterone during pregnancy, have been frequently implicated as potential triggers for SSNHL.

Idiopathic sudden sensorineural hearing loss: A review focused on the contribution of vascular pathologies.

Idiopathic sudden sensorineural hearing loss (ISSNHL) is characterized by abruptly appearing hearing loss, sometimes accompanied by vertigo. Vascular pathologies (e.g., cochlear ischemia, or cochlear infarction) are one of the most likely causes of ISSNHL. This review aims to present current understanding of inner ear anatomy, clinical features of ISSNHL, and its treatment strategies. The labyrinthine artery is the only end artery supplying blood to the inner ear, and it has three branches: the anterior vestibular artery, the main cochlear artery, and the vestibulo-cochlear artery (VCA). Occlusion of the VCA can be caused by a variety of factors. The VCA courses through a narrow bone canal. ISSNHL is usually diagnosed after excluding retrocochlear pathologies of sudden sensorineural hearing loss (SSNHL), such as vestibular schwannoma. Therefore, a head MRI or assessing auditory brainstem responses are recommended for patients with SSNHL. Severe SSNHL patients with high CHADS2 scores, an index of stroke risk, have a significantly lower rate of vestibular schwannoma than severe SSNHL patients with low CHADS2 scores, suggesting that severe ISSNHL in individuals at high risk of stroke is caused by vascular impairments. Intralabyrinthine hemorrhage causes SSNHL or vertigo, as in ISSNHL. The diagnosis of intralabyrinthine hemorrhage requires careful interpretation of MRI, and a small percentage of patients diagnosed with ISSNHL may in fact have intralabyrinthine hemorrhage. Many studies have reported an association between ISSNHL and atherosclerosis or cardiovascular risk factors (e.g., diabetes mellitus, hypertension, dyslipidemia and cardiovascular disease), and subsequent risk of stroke in patients with ISSNHL may be elevated compared to controls. Increased hearing level on the healthy ear side, high Framingham risk score, high neutrophil-to-lymphocyte ratio, high platelet-to-lymphocyte ratio, and severe white matter lesions may be poor prognostic factors for patients with ISSNHL. The association between thrombosis-related genes and susceptibility to ISSNHL has been reported in many studies (e.g., coagulation factor 2, coagulation factor 5, plasminogen activator inhibitor-1, platelet-associated genes, a homocysteine metabolism-related enzyme gene, endothelin-1, nitric oxide 3, phosphodiesterase 4D, complement factor H, and protein kinase C-eta). Treatment of ISSNHL with the aim of mitigating the vascular impairment in the inner ear includes systemically administered steroids, intratympanic steroid injections, hyperbaric oxygen therapy, prostaglandin E1, defibrinogenation therapy, and hydrogen inhalation therapy, but there is currently no evidence-based treatment for ISSNHL. Breakthroughs in the unequivocal diagnosis and treatment of ISSNHL due to vascular impairment are crucial to improve quality of life.

[Bilateral vestibulopathy and sensorineural hearing loss in necrobiotic xanthogranuloma, multiple myeloma and amiloidosis]. / Dvustoronnyaya vestibulopatiya i sensonevral'naya tugoukhost' u patsienta s nekroticheskoi ksantogranulemoi, mnozhestvennoi mielomoi i amiloidozom.

This article describes a rare case of necrotic xanthogranuloma in a 46-year-old patient who presented with the development of periorbital xanthelasms, progressive bilateral sensorineural hearing loss and bilateral vestibulopathy, followed by multiple myeloma and amyloidosis. For several years, the patient underwent standard rehabilitation for chronic sensorineural hearing loss and was fitted with a hearing aid. During hospitalisation for exacerbation of chronic bronchitis, monoclonal gammopathy was identified, and later, after careful examination and repeated biopsies, necrotic xanthogranuloma, multiple myeloma and AL-amyloidosis were confirmed. Targeted immunochemotherapy resulted in improvement of hearing and significant recovery of the vestibuloocular reflex bilaterally.

Cochlear Implantation in Patients With Osteolytic Labyrinthitis: A Case Series.

OBJECTIVE: To describe the rare process of osteolytic labyrinthitis, previously referred to as labyrinthine sequestrum, which involves progressive obliteration of the bony and membranous labyrinth with eventual supplantation with soft tissue and, in some cases, bony sequestrum. PATIENTS: Three patients with diverse presentations of osteolytic labyrinthitis from two tertiary care academic medical centers. INTERVENTIONS: Case series report analyzing the relevant clinical, radiologic, pathologic, and surgical data on our patients with osteolytic labyrinthitis and comparing these index cases to the existing literature. MAIN OUTCOME MEASURES: We describe the varying image findings seen in osteolytic labyrinthitis on computed tomography and magnetic resonance imaging. Also, we report successful surgical intervention and hearing rehabilitation with cochlear implantation in patients with osteolytic labyrinthitis. RESULTS: Our three patients presented with profound sudden sensorineural hearing loss and vertigo consistent with labyrinthitis. None of the three patients had a history of chronic otitis media. Imaging workup revealed varying degrees of erosion to the otic capsule bone demonstrating the spectrum of disease seen in osteolytic labyrinthitis. Although two cases showed osteolytic changes to the semicircular canals and vestibule, the first case revealed frank bony sequestrum within the obliterated labyrinth. The three cases were taken for surgical debridement and cochlear implantation. CONCLUSIONS: We propose the new term, osteolytic labyrinthitis-previously referred to as labyrinthine sequestrum-to describe the rare spectrum of disease characterized by destruction of the osseous and membranous labyrinth and potential supplantation with bony sequestrum. Cochlear implantation is a viable option in selected patients with osteolytic labyrinthitis.

Importance of small vessel disease as a possible cause of sudden sensorineural hearing loss.

OBJECTIVE: Vascular disease like small-vessel disease (SVD) is the most likely cause among the potential causes of Sudden sensorineural hearing loss (SSNHL). Understanding the relationship between SVD and SSNHL is crucial for developing effective prevention and treatment strategies. To confirm the relationship between SVD and SSNHL, the effect of SVD is confirmed by focusing on the duration and recurrence of SSNHL. METHODS: This article reports a retrospective observational study that investigated the relationship between SVD and SSNHL using the South Korea Health Insurance Review and Assessment Service (HIRA) database from 2010 to 2020. This retrospective observational study included 319,569 SSNHL patients between 2010 and 2020. RESULTS: Participant demographics were controlled using Propensity Score Matching. The hazard ratios (HR) for the effect of SVD on the duration of SSNHL were 1.045 for the group with SVD before the onset of SSNHL and 1.234 for the group with SVD after the onset of SSNHL. SVD was statistically significant for the recurrence of SSNHL, with an odds ratio of 1.312 in the group with SVD compared to the group without SVD. The HR for the period until a recurrence in the group with SVD was 1.062. CONCLUSIONS: The study identified SVD as a possible cause of SSNHL and found that the duration of SSNHL increased only in the presence of SVD. SVD also affected the recurrence of SSNHL, with the recurrence rate being 1.312 times higher in the group with SVD.

"Minimally symptomatic" congenital cytomegalovirus infection: latest data and emerging concepts.

PURPOSE OF REVIEW: Universal and targeted screening of newborns for congenital cytomegalovirus (CMV) infection is increasing globally. Questions remain concerning the management of infants who have been identified with congenital CMV infection, especially those with "minimally symptomatic" or clinically inapparent infection. Our objective is to discuss current management of CMV-infected neonates with a focus on less affected infants with or without sensorineural hearing loss (SNHL). RECENT FINDINGS: Valganciclovir is being prescribed increasingly in neonates with congenital CMV infection for improvement in hearing outcomes through 2 years of age. Treatment initiated in the first month of age is recommended for clinically apparent disease. A recent study showed hearing improvement at 18-22 months of age when therapy was initiated at age 1-3 months in infants with clinically inapparent CMV infection and isolated SNHL. SUMMARY: Antiviral therapy with either ganciclovir or valganciclovir has shown moderate benefit in prevention of hearing deterioration among infants with clinically apparent CMV infection or isolated SNHL. Sustainability of benefit beyond 2 years of age remains unknown. At present, infants with clinically inapparent CMV infection (normal complete evaluation including hearing) should not receive antiviral therapy. All CMV-infected infants require close audiological and neurodevelopmental follow-up.

Dosimetric analysis of hearing loss after cranial radiation therapy in children: A single-institution study from the French national registry PediaRT.

PURPOSE: To identify dosimetric predictive factors of sensorineural hearing loss (SNHL) in children after cranial radiation therapy (RT) in a single institution using dosimetric data from the French National Registry PediaRT. METHODS AND MATERIALS: Complete audiological follow-up data were available for 44 children treated with cranial RT between 2014 and 2021 at our institution. The median age at the time of RT initiation was 9 years (range: 2-17 years). No children presented with hearing loss prior to treatment. SNHL was defined as a Chang ototoxicity grade ≥ 1a or higher. RESULTS: Median audiometric follow-up duration was 51 months. Seven children (16 %) developed SNHL with a median time to occurrence of 33 months (range, 18-46 months). The estimated SNHL cumulative rate at 2 years post-RT was 4,5% ± 3,1% and at 5 years was 21 % ± 7.2 %. Multiple Cox regression models showed that the association of the age at radiotherapy and the dosimetric values to the inner ear canal and cochlea were the most significant predictive factors of SNHL occurrence. No child who received less than 35 Gy on average to both cochleae (n = 26) suffered from SNHL, whereas the 5-year SNHL cumulative incidence for the children who received greater than or equal to 35 Gy on average to either cochlea (n = 18) was 51.8 % ± 15.1 %. CONCLUSION: Doses received by the inner ear canal and cochlea, associated with the age at RT initiation, are the main predictive factors for radiation-induced SNHL. A median dose to either cochlea over 35 Gy significantly increases the risk of SNHL and justify close audiometric monitoring to detect and equip hearing loss at an early stage.

Traditional and non-traditional lipid parameters as risk factors for sudden sensorineural hearing loss.

OBJECTIVE: The purpose was to explore the effects of traditional and non-traditional lipid parameters on Sudden Sensorineural Hearing Loss (SSNHL). METHODS: The study included 452 patients diagnosed with SSNHL, among whom 206 patients had a level of hearing improvement ≥10 dB after one month of follow-up. A propensity score-matched (2:1) control group was used. Conditional and unconditional logistic regression were used to analyze the risk factors for SSNHL. RESULTS: Patients with SSNHL had a higher risk of concomitant hypertension and elevated atherosclerogenic lipid levels, with apolipoprotein B and apolipoprotein E identified as independent risk factors for the onset of SSNHL. Additionally, the Lipid Comprehensive Index (LCI) was an independent risk factor for the degree of hearing loss. A positive linear correlation was revealed between triglyceride, non-high-density lipoprotein cholesterol, atherogenic index, Castelli risk index, atherogenic index of plasma, LCI and hearing loss. However, no linear relationship was observed between hearing gain and any lipid parameters. When Total Cholesterol (TC) was in the range of borderline high, the treatment effect was the best. However, the statistical significance disappeared upon adjusting for confounding factors. CONCLUSION: Patients with SSNHL exhibited markedly dysregulated lipid metabolism. Elevated serum lipid levels may be a causative factor in auditory impairment and can influence the extent of hearing loss. Promptly improving cochlear microcirculation may benefit patients with borderline elevated TC.

Management of oral manifestations of a child with Heimler Syndrome-2.

Heimler Syndrome 2 (HS-2) is a rare, autosomal recessive mild form of a peroxisomal biogenesis disorder. Though knowledge regarding the disorder is limited, emerging research has found that sensorineural hearing loss, occasional or late onset pigmentation, amelogenesis imperfecta and nail abnormalities are clinical characteristics representative of HS-2.A school-aged male presented to the dental department with a chief complaint of a lack of enamel on multiple teeth. The patient's medical history was significant for patent ductus arteriosus, bilateral sensorineural hearing loss and biallelic mutation of the PEX6 gene. The clinical exam revealed dental crowding, hypoplasia, hypo-calcification of multiple teeth and enlarged pulp chambers of maxillary molars. This case report details the clinical findings associated with HS-2, the comprehensive dental treatment to be rendered to the patient, and critical information to paediatric dentists and general dentists so that they can make proper referrals to medical specialties.

Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant.

Objectives: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant. Data was collected through questionnaire-based detailed interviews. Syndromic Hearing Loss, Non-Syndromic Hearing Loss, and Acquired Hearing Loss were identified among the subjects. Data was analysed using SPSS 22. RESULTS: Of the 250 cases, 147(58.8%) were boys, 146(58.4%) were aged 0-5 years, 219(87.6%) had prelingual onset of disease, and 202(80.8%) had a non-progressive disease course. In 203(81.2%) cases, normal developmental milestones were seen. Parental consanguinity was observed in 219(87.6%) cases. However, 63(25.2%) patients had a first-degree relative who had a history of deafness. In 170(68%) cases, hearing loss was hereditary, whereas in 80(32%) it was acquired. Meningitis was the most commonly identified risk factor 55(68.75%). Acquired risk factors and family history had significant association with hearing loss (p<0.05). Speech perception significantly improved in all 219(100%) patients with prelingual hearing loss who underwent cochlear implantation. CONCLUSIONS: Majority of the cases were found to be male, had a prelingual disease onset and a non-progressive disease course. Family history was a significant factor, while meningitis was the most common acquired cause of hearing loss.

Diagnóstico genético de la hipoacusia neurosensorial infantil / Genetic diagnosis of childhood sensorineural hearing loss

Introducción: La hipoacusia neurosensorial (HNS) congénita o de inicio precoz es una de las enfermedades hereditarias más frecuentes en nuestro medio y es la deficiencia sensorial más frecuente. Es importante realizar un estudio etiológico de la hipoacusia y el estudio genético mediante la secuenciación de nueva generación (NGS) es la prueba con mayor rendimiento diagnóstico. Nuestro estudio muestra los resultados genéticos obtenidos en una serie de pacientes con HNS congénita/de inicio precoz bilateral. Material y método: Se incluyeron 105 niños diagnosticados de HNS bilateral a los que se les realizó un estudio genético entre los años 2019 y 2022. El estudio genético consistió en una secuenciación masiva del exoma completo, filtrando el análisis para los genes incluidos en un panel virtual de hipoacusia con 244 genes. Resultados: Se obtuvo un diagnóstico genético en 48% (50/105) de los pacientes. Se detectaron variantes patogénicas y probablemente patogénicas en 26 genes diferentes, siendo los genes más frecuentemente afectados el gen GJB2, USH2A y STRC. De las variantes detectadas 52% (26/50) se asociaron a una hipoacusia no sindrómica, 40% (20/50) una hipoacusia sindrómica y 8% restante (4/50) se podían asociar tanto a una hipoacusia sindrómica como no sindrómica. Conclusiones: El estudio genético constituye una parte fundamental del diagnóstico etiológico de la HNS bilateral. Nuestra serie muestra que el estudio genético de la hipoacusia mediante NGS tiene un alto rendimiento diagnóstico y nos proporciona información de gran utilidad en la práctica clínica.(AU)

Introduction: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. Materials and methods: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). Results: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. Conclusions: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.(AU)

The Auditory Pathway in Congenitally Cytomegalovirus-Infected Human Fetuses.

Congenital cytomegalovirus (CMV) infection is the main cause of non-hereditary sensorineural hearing loss (SNHL). In order to shed light on SNHL pathophysiology, we examined the auditory pathway in CMV-infected fetuses; the temporal lobe, in particular the auditory cortex, and the inner ear. We investigated both inner ears and temporal lobes of 20 human CMV-infected fetuses at 21 weeks of gestation. As a negative group, five fetuses from spontaneous miscarriages without CMV infection were studied. Inner ears and temporal lobes were histologically examined, immunohistochemistry for CMV and CMV-PCR were performed. On the auditory cortex, we evaluated the local microglial reaction to the infection. CMV-positive cells were found in 14/20 brains and the damage was classified as severe, moderate, or mild, according to histological features. Fetuses with severe brain damage had a statistically higher temporal lobe viral load and a higher number of activated microglial cells in the auditory cortex compared to fetuses with mild brain damage (p: 0.01; p: 0.01). In the inner ears, the marginal cells of the stria vascularis were the most CMV positive. In our study, CMV affected the auditory pathway, suggesting a tropism for this route. In addition, in the auditory cortex, microglial activation may favor further tissue damage contributing to hearing loss.