Bilateral Hearing Impairment Research Articles

Combined Effect of Noise Reduction, FBS-Based Spectral Splitting, and Dynamic Range Compression of Speech Signal on Source Localization in Binaural Hearing Aids

Localizing sound sources in three spatial dimensions (azimuth, elevation, and distance) is critical for human hearing comfort. It relies on two binaural cues: interaural time difference (ITD) and interaural level difference (ILD). Cochlear or auditory nerve injury can result in sensorineural hearing loss (SNHL). Hearing aids enable people with sensorineural hearing loss to converse more effectively and hear better. However, there is an apprehension that the binaural hearing aids may degrade the localization cues, thus affecting the source localization. In response to this concern, the current study investigates how the binaural hearing aid algorithm affects source localization by adopting a cascaded structure of noise reduction technique (wiener filter) followed by filter bank summation (FBS) based spectral splitting and dynamic range compression for binaural dichotic presentation. Listening tests for seven different azimuth angles (-90⁰, -60⁰, -30⁰, 0⁰, 30⁰, 60⁰, and - 90⁰) were conducted on six listeners with normal hearing under different signal-to-noise ratio (SNR) conditions as well as on six subjects with mild bilateral sensorineural hearing impairment. Test stimuli included background glass-breaking sound and broadband noise for participants with normal hearing. In an experiment with hearing-impaired subjects, the glass-breaking sound served as one of the test stimuli. The result showed that these binaural hearing aid algorithms had no adverse effects on localization ability.

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14-month-old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652 T > G (p.W218G); c.915 + 1G > T] in the BRF1 gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of BRF1 variants, which indicates patients with the developmental delay caused by BRF1 variants require other treatments instead of rehabilitation.

Prevalence of functional disability and associated factors among elderly residing in a rural area of Puducherry

BackgroundElderly people are one of the most vulnerable populations, with a higher risk of having chronic illnesses, infections, and eventual disability. Along with morbidity and death rates, the amount of disability is an essential metric in quantifying disease burden. This study estimates the prevalence of functional disability and associated socio-demographic characteristics and morbidities in a rural area of Puducherry. MethodsThis cross-sectional study included 360 people aged 60 and above who are living in the study area. People who had difficulty in activities of daily living (ADL), blindness, bilateral hearing impairment, cognitive impairment, or a combination of these were regarded to have functional disability. Barthel index, Snellen's chart, Whisper test and Elderly cognitive assessment questionnaire were used to assess the disabilities. Simple descriptive analysis and the Chi-square test were incorporated in statistical analysis. In order to understand the factors associated with functional disability, multiple logistic regression is performed. ResultsThe prevalence of functional disability was found to be 30 % (95 % Confidence Interval: 25.5–34.9) among the 360 study participants. 13.8 % had ADL disability, 8 % had visual impairment, 11.6 % had hearing impairment and 9.7 % had cognitive impairment. Men had a lower prevalence (28.3 %) than women (31.2 %).The prevalence increased with age, low socio-economic status and found more common among persons who were widowed or widower. Disability increased with increasing morbidities. DiscussionFunctional disability among elderly in rural area is very common. It is associated with morbidities and sociodemographic factors. To guarantee healthy ageing functional disabilities must be recognized early using appropriate methods.

Bilateral Sudden Irreversible Hearing Loss in a Case of Chronic Myeloid Leukaemia: A Case Report.

Chronic myeloid leukemia is a type of blood cancer that affects the bone marrow and results in an overproduction of immature WBCs. The genetic mutation that causes CML is the BCR-ABL fusion gene. Adolescents are rarely affected. The case study aims to discuss a rare case of chronic myeloid leukemia causing bilateral hearing impairment, tinnitus, and vertigo. A 30-year-old female presented to the hospital in November, 2021, with sudden hearing impairment and other symptoms, leading to a CML diagnosis. Blood tests revealed hyperleukocytosis with marked neutrophilia, mild basophilia, and eosinophilia, and a BCR-ABL quantitation of 85%. Bone marrow aspiration showed granulocytic hyperplasia, mild left-shifted maturation, and less than 1% blasts. The patient was started with options including tyrosine kinase inhibitors (TKIs) such as Imatinib, which target the BCR-ABL fusion gene, reducing the number of leukemia cells and improving her white blood cell count. However, her deafness persisted, and she became dependent on hearing aids. CML presenting with hearing loss is rare, believed to be related to the infiltration of leukemic cells in the inner ear or microvascular complications. Treatment with tyrosine kinase inhibitors such as Imatinib can improve hematologic parameters, but the effect on hearing loss is uncertaint.

ASYMETRIE W POZNANIU I POMIARACH INTELIGENCJI U DZIECI Z UBYTKIEM SŁUCHU W PRAWYM LUB LEWYM UCHU

IntroductionHemispheric asymmetry of the central nervous system affects various features of the brain involved in cognitive ability. Functional asymmetry, such as different hearing ability in the left or right ear, will also affect cognitive processes.Material and methodsThe aim of this study was to assess how intelligence measures and cognitive abilities in children and adolescents might have been affected by hearing deficits in the left or right ear. The study involved 208 children, 126 who were in an experimental group and 82 in a control group. In the experimental group, there were 26 children who were diagnosed with right-sided hearing loss, 34 with leftsided hearing loss, and 66 with bilateral hearing loss; all children in this group had used hearing devices since diagnosis. We assessed hearing unilaterally and bilaterally and looked for asymmetries in terms of intelligence measures and visual and spatial functioning.ResultsChildren with bilateral hearing impairment had lower intelligence compared to those without impairment. Children with unilateral hearing impairment had similar intelligence level compared to well hearing children. Children with left-sided hearing impairment had higher intelligence compared to those with right-sided hearing impairment and lower nonverbal intelligence compared to well-hearing children. Children with right-sided hearing impairment had lower verbal intelligence.ConclusionsHearing impairment has an impact on various measures of intelligence, as well as on the organisation and performance of cognitive processes.

NOWY PATOGENICZNY WARIANT GENU <i>LOXHD1</i> W GRECJI: STUDIUM PRZYPADKU IZOLOWANEGO NIEDOSŁUCHU ZWIĄZANEGO Z MUTACJĄ DNFB77

BackgroundGenetic deficits cause 80% of congenital prelingual hearing loss. Some 80% of these cases are nonsyndromic and most follow an autosomal recessive pattern of inheritance. More than 80 genes have so far been identified as pathogenic. In this study, we focus on a recently mapped gene, <i>LOXHD1</i>, whose mutated form causes DFNB77 hearing loss, and find a new variant.Case reportThis is a case study of a 7-year-old male who was admitted to our audiology department with progressive hearing impairment. Pure tone audiometry showed bilateral symmetric hearing impairment, especially at mid to high frequencies. Acoustic immittance tests were normal, but transient evoked otoacoustic emissions and auditory brainstem responses were abnormal for both ears. After physical, clinical, and imaging evaluations, the patient and his parents were genetically tested. Genetic screening showed <i>LOXHD1</i> hearing loss with a novel combination of alleles, the first such case diagnosed in Greece. The patient now has hearing aids and is being regularly monitored.ConclusionsAutosomal recessive nonsyndromic hearing loss (ARNSHL), including DFNB77, is the most common sensory deficit in children. Our work describes the first <i>LOXHD1</i> hearing loss case diagnosed in Greece and adds a novel pathogenic variant to the list of pathogenic <i>LOXHD1</i> gene variants.

Chronic Myeloid Leukemia (CML) with Permanent Hearing Loss

Objective: The present case study aims to discuss a rare case of chronic myeloid leukemia causing bilateral hearing impairment, tinnitus, and vertigo. Introduction: Chronic Myeloid Leukemia (CML) or chronic granulocytic leukemia is a type of blood cancer that affects the bone marrow. It results in an overproduction of immature White Blood Cells (WBCs) that typically happens throughout or after middle age, and adolescents are rarely affected. The genetic mutation that causes CML is known as the BCR-ABL fusion gene. Case Presentation: In this case report, a 30-year-old female presented to the hospital of Jazan, Saudi Arabia, with sudden hearing impairment and other symptoms, leading to a CML diagnosis. The patient had no prior hearing impairment background, and the otoscopic scanning was normal. The Pure Tone Audiometry (PTA) showed profound sensorineural hearing loss on both sides. Blood tests revealed hyperleukocytosis with marked neutrophilia, mild basophilia, and eosinophilia and a BCR-ABL quantitation of 85%. Bone marrow aspiration showed granulocytic hyperplasia, mild left-shifted maturation, and less than 1% blasts. Results: The patient was started with options including Tyrosine Kinase Inhibitors (TKIs) such as Imatinib, which target the BCR-ABL fusion gene, reducing the number of leukemia cells and improving her white blood cell count. However, her deafness persisted, and she became dependent on hearing aids. Discussion: CML presenting with hearing loss is rare, with only a few reported cases in the literature. It is believed to be related to the infiltration of leukemic cells in the inner ear or the microvascular complications associated with the disease. Hearing loss can be reversible or permanent, depending on the severity and duration of the disease. Treatment of CML with tyrosine kinase inhibitors such as Imatinib can improve the hematologic parameters, but the effect on hearing loss is uncertain.

Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder

Objective: To investigate the clinical phenotype and gene mutation characteristics of MYH9-related disorder (MYH9-RD). Methods: The clinical data of 66 patients with MYH9-RD in the First Affiliated Hospital of Soochow University from January 2010 to December 2022 were retrospectively analyzed. According to the bleeding symptom, the patients were divided into bleeding and non-bleeding group, and according to the mutation sites, the patients were divided into non-muscle myosin heavy chain ⅡA head region (MD) and tail region (TD) mutation group. Statistical analysis was made to explore the clinical features in different groups such as platelet counts, bleeding, renal function, cataracts and hearing as well as MYH9 gene mutations. Results: A total of 66 MYH9-RD patients were included, with 28 males and 38 females, diagnosis age of 1-63(26±2) years. And 41% (27/66) of the patients had no family history. All patients presented with macrothrombocytopenia and normal platelet aggregation(10/10), 92% (54/59) of the patients had visible blue inclusion bodies in neutrophils, 30% (20/66) had bleeding symptoms, 45% (22/49) had proteinuria or glomerulonephropathy, 20% (8/41) had bilateral hearing impairment, and 10% (4/42) had bilateral cataracts. 18 mutation sites were identified in total, including 15 missense, 1 splicing and 2 termination mutations. Among them, p.Asp1424Asn, p.Arg1933* and p.Arg702His/Cys mutations were identified in 56% (29/52) of the patients, and p.Ser96Leu, Arg1165Cys and p.Glu1841Lys mutations were recurrent mutations, while p.Ala44Thr, p.Asp1447Ala and c.3838-2A>G mutations were novel mutations. The average platelet count of patients in bleeding group was (19±3)×109/L, which was significantly less than (36±3)×109/L in non-bleeding group (P<0.001). Compared with TD mutation group, patients of MD mutation group were presented with lower platelet count and higher risk of bleeding, as well as more severe clinical presentations including renal and hearing impairment and cataracts (all P<0.05). Conclusion: Mutations of p.Asp1424Asn, p.Arg1933* and p.Arg702His/Cys in MYH9 gene are hotspot mutations for MYH9-RD patients, Compared with TD mutation group, patients of MD mutation group were presented with lower platelet count and higher risk of bleeding, as well as more severe clinical presentations including renal and hearing impairment and cataracts.

Treatment Outcomes of Concurrent Nimotuzumab with Intensity Modulated Radiotherapy in Advanced Nasopharyngeal Carcinoma Patients Unfit for Concurrent Chemoradiotherapy: A Single Institute Experience

To assess the safety and efficacy of intensity-modulated radiotherapy (IMRT) combined with nimotuzumab for patients with locally advanced nasopharyngeal carcinoma (LA-NPC) medically unfit to receive concomitant chemotherapy. From 2016.6 to 2020.9, 34 newly diagnosed patients with local-regional advanced NPC medically unfit for concurrent chemoradiation had undergone definitive radiotherapy and were retrospectively evaluated. All patients were treated with IMRT combined treatment modality of nimotuzumab with or without cisplatin-based induction chemotherapy. Nimotuzumab was administered concurrently with IMRT at a weekly dose of 200 mg. Acute and late radiation-related toxicities were evaluated based on the Common Terminology Criteria for Adverse Events (CTCAE) Version 5.0 during and after IMRT. The Kaplan-Meier method was used for survival analysis. Univariate and multivariate prognostic analyses were performed by using the Cox proportional hazard model. The median follow-up time for the entire group was 15 months (range 5 to 55 months). At the time of this analysis, a total of 2 cases developed loco-regional recurrence. In addition, 4 patients developed distant metastasis. There was a total of 5 deaths: 3 patients died from distant metastasis, 1 patient died from the progression of loco-regional disease after recurrence, and the causes of death for the additional 1 case was a nasopharyngeal ulcer and deadly bleeding. The 1-year OS rate of the whole cohort was 87.9%, and the 1-year LFFR, DFFR, and PFS rates were 100%, 91.0%, and 91.0%, respectively. During the period of concurrent nimotuzumab and IMRT, no grade 3-4 hematologic toxicities and dermatitis were observed. Grade 3-4 radiotherapy-related oral mucositis was reported in 7 patients (20.6%). No infusion reaction was observed. No acneiform eruptions were found among these patients. The most commonly observed late complication was xerostomia. The degree of dry mouth in most patients was mild-to-moderate at the time of the last follow-up. Finally, 7 patients developed either unilateral or bilateral hearing impairment. One female patient experienced a nasopharyngeal ulcer and deadly bleeding after 5 months of completion of radiotherapy. Concurrent nimotuzumab with IMRT for the treatment of LA-NPC was well tolerated, with encouraging survival data, and it could be an effective treatment alternative for patients with LA-NPC medically unfit for concomitant chemotherapy. Further clinical trials are needed to confirm these findings.

Association of age-related hearing loss, tinnitus, and chronic low back pain in middle-aged and older Korean adults.

This was a cross-sectional study conducted to evaluate the association between hearing impairment and low back pain (LBP) using data from the Korean National Health and Nutrition Examination Survey. A total of 5,504 middle-aged and older Korean adults (aged ≥50 years old) who underwent plain radiography of the lumbar spine and pure tone audiometry were included. The presence of LBP was evaluated using a questionnaire, which included a question on whether the patient had experienced LBP that lasted for more than 30 days during the past three months. Patients with age-related hearing loss (ARHL) were defined as those with bilateral hearing impairment who met the following criteria: 1) normal otologic examination results, 2) average pure-tone hearing thresholds of ≤15 dB in both ears, and 3) no occupational noise exposure. Multivariable logistic regression analysis showed that ARHL was not associated with LBP (odds ratio, 1.33; 95% CI, 0.94-1.89) after adjusting for potential confounders in the final model. However, when participants without both ARHL and tinnitus were defined as the reference group, the results showed that the participants with both ARHL and tinnitus were more likely to have LBP (OR, 1.86; 95% CI, 1.11-3.11). These results indicate that ARHL with tinnitus is significantly associated with LBP. We recommend that elderly patients with ARHL and tinnitus increase their daily physical activities and engage in more muscle-strengthening exercises to prevent LBP.

Benefits of Auditory Training with an Open-Set Sentences-in-Babble-Noise

Auditory training (AT) has limited generalization to non-trained stimuli. Therefore, in the current study, we tested the effect of stimuli similar to that used in daily life: sentences in background noise. The sample consisted of 15 Hebrew-speaking adults aged 61–88 years with bilateral hearing impairment who engaged in computerized auditory training at home four times per week over a two-month period. Significant improvements were observed in sentences comprehension (Hebrew AzBio (HeBio) sentences test) with both four-talker-babble-noise (4TBN) and speech-shaped-noise (SSN) and in words comprehension (consonant-vowel-consonant (CVC) words test), following one month of AT. These improvements were sustained for two months after completing the AT. No evidence of spontaneous learning was observed in the month preceding training, nor was there an additional training effect in the additional month. Participants’ baseline speech perception abilities predicted their post-training speech perception improvements in the generalization tasks. The findings suggest that top-down generalization occurs from sentences to words and from babble noise to SSN and quiet conditions. Consequently, synthetic training tasks focusing on sentence-level comprehension accompanied by multi-talker babble noise should be prioritized. Moreover, an individualized approach to AT has demonstrated effectiveness and should be considered in both clinical and research settings.

ON THE QUESTION OF HEARING IMPAIRMENT IN PREMATURE CHILDREN WHO HAVE EXPERIENCED OXIDATIVE STRESS AT BIRTH

Introduction. Hearing impairment (HI) occupies an important place among perinatal pathology. According to theWHO, the frequency of severe hearing impairment is observed in 1–2 per 1000 newborns and in 15% of newborns whorequired intensive therapy after birth. Mild and moderate HI occurs in 1–2% of children with perinatal pathology.The aim of the work is to study the predictors of hearing impairment and the factors that determine the severityof deafness in children aged 2–3 months who suffered oxidative stress at birth.Material and methods. 131 cases of observation of newborns of 27–36 weeks of gestation with HI in Communalnonprofit enterprise «City perinatal center» Kharkiv city council were analyzed. Children whose families had casesof HI were excluded from the study. During the observation, the audiological examination was carried out in thenewborn period (primary examination) and at 2–3 months of age. To meet the aim of the work, alternative groupswere formed: Group I (n=51) with unilateral and Group II (n=80) with bilateral hearing impairment.To determine the predictors of the severity of PS in the comparison groups, the factors determining deafnesswere studied, and their prognostic informativeness was established. The t-Student and φ-Fisher criteria weredetermined, the Wald-Henkin heterogeneous sequential procedure algorithm was used, predictive coefficients (PC)and informativeness (I) were determined.By decision of the Bioethics Commission № 3 dated March 21, 2023, the study materials comply with the TokyoDeclaration of the World Medical Association, the International Recommendations of the Helsinki Declaration onHuman Rights, the Council of Europe Convention on Human Rights and Biomedicine, the Laws of Ukraine, and therequirements of the Code of Ethics of a Doctor of Ukraine.The study was carried out within the framework of the scientific research work of the Department of Pediatrics№ 3 and Neonatology of KhNMU «Study of peculiarities of the course of oxidant stress diseases in newborns» 2022–2024 (state registration № А22U000025).Results. Factors of obstetric and somatic anamnesis of the mother did not influence the nature of HI in the child.Among the complications of pregnancy and childbirth in the anamnesis of children with bilateral HI, dysfunction ofplacenta was more often observed 33.8 and 13.7 % (р&lt;0.001), threat of abortion 30.0 and 17.6 % (&lt;0.05), anemiapregnant women 31.2 and 13.7 % (p&lt;0.001), fetal distress 56.2 and 37.3 % (p&lt;0.01), cesarean delivery 68.8 and 47.1% (p &lt;0.001), especially regarding fetal distress – 67.3 and 29.2 % (р&lt;0.001).The frequency of bilateral HI in children is inversely proportional to gestational age and birth weight and isassociated with a low Apgar score. Sexual dimorphism was revealed: girls predominated in the group with bilateralhearing loss, 56.2 and 35.3 % (р&lt;0.001). Children with bilateral HI more often required surfactant therapy 78.8 and33.3 % (p&lt;0.001), as well as longer respiratory support and oxygen therapy.In the study, bilateral HI was more common in children with diseases whose pathogenesis is closely relatedto oxidative stress: periventricular leukomalacia 55.0 and 7.8 % (&lt;0.001); bronchopulmonary dysplasia (BPD)of the 2nd and 3rd degree: 23.7 and 2.0 % (p&lt;0.001) and 23.7 and 0 % (p&lt;0.001), respectively; retinopathy ofprematurity grade 2–3 42.5 and 17.6 % (р&lt;0.001); with an PDA 81.3 and 41.2 % (p&lt;0.001), including when surgicalclosure was necessary, 18.5 and 9.5 % (p&lt;0,05). The highest informativeness of hearing impairment in childrenwho have undergone oxidative stress belongs to the following characteristics: gestational age (6.14), total durationof mechanical ventilation (5.54), body weight (5.44), BPD (5.4), duration of mechanical ventilation in mode ofnormoventilation (4.1), duration of oxygen therapy (3.91), PDA (3.72).The most significant prognostic factors of bilateral hearing impairment: the presence of BPD 2–3 stages. (-13.8);intraventricular hemorrhage (IVH) 2–3 st. (-12.4); total duration of ventilator ≥21 days (-10.33); gestation period≤29 weeks (-8.6); periventricular leukomalacia (PVL) 2–3 st. (-8.48); duration of oxygen therapy ≥21 days (-7.38);body weight (-6.94).Conclusions: The most significant prognostic factors of bilateral hearing impairment: the presence of BPD 2–3st. (-13.8); IVH 2–3 st. (-12.4); total duration of ventilator ≥21 days (-10.33); gestation period ≤29 weeks (-8.6);periventricular leukomalacia 2–3 st. (-8.48); duration of oxygen therapy ≥21 days (-7.38); body weight (-6.94), etc.Bilateral hearing impairment is predicted in newborns based on the presence of gestational immaturity (gestationalterm ≤ 29 weeks), BPD grade 2–3, IVH grade 2–3, total duration of mechanical ventilation and oxygen therapy &gt; 21days, PVL grade 2–3. In our study, no reliable relationship was found between the nature of the hearing impairment of aprematurely born child and the somatic and obstetric anamnesis of the mother. Gender characteristics among prematureinfants with bilateral HI were characterized by the predominance of the female gender, 56.2 and 35.3 % (р&lt;0.001).

Population Based Study and Global Estimates of Hearing Impairment in Schoolchildren

Hearing impairments in schoolchildren affects learning and communication. Reliable data on hearing loss prevalence in this group are necessary for planning the audiological care. Aim. To compare data from a population based study of the hearing loss prevalence in schoolchildren and estimates from the Global Burden of Disease (GBD) study in the Republic of Yemen. Materials and methods. Data extraction was performed from the GBD database on the prevalence of bilateral hearing loss &gt;20 dB among children aged 5–9 years in the Republic of Yemen. A two stage study of hearing loss prevalence among primary school students aged 6–9 years in Sana’a, Republic of Yemen, in a sample of 2200 children using screening audiometry at 20 dB at 0.5, 1, 2, and 4 kHz is school settings, followed by tonal threshold audiometry and tympanometry in a specialized clinic. Hearing loss was assessed as unilateral or bilateral when hearing thresholds were higher than 25 dB. Results. According to GBD estimates, bilateral hearing impairment in this population is 2.2%, including 1.4% of mild degree. According to the results of a Yemenian population study, mild and moderate hearing impairment was detected in 10.6%, of which 6.8% – unilateral, 3.8% – bilateral hearing loss. There were no cases of severe or profound hearing loss. The prevalence of otitis media with effusion was 6%, chronic suppurative otitis media – 1.8%, sensorineural hearing loss – 1.6%. Conclusion. Bilateral hearing impairments occur in 2.2–3.8% of primary school students, with unilateral impairments the prevalence is up to 10.6%. Of these, at least 65% have conductive hearing loss due to pathology of the middle ear. The data obtained will improve the efficiency of ear and hearing care for schoolchildren.

Health Utilities of Bilateral Severe-to-Profound Hearing Loss with Assistive Devices.

Hearing loss is a common sensory disorder in newborns. Early intervention with assistive devices benefits children's auditory and speech performance. This study aimed to measure the health utilities of children with bilateral severe-to-profound hearing impairment with different assistive devices. The descriptions of four hypothetical health states were developed, and their utility values were obtained from healthcare professionals via the visual analogue scale (VAS) and time trade-off (TTO) methods. Thirty-seven healthcare professionals completed the TTO interview and were included in the analysis. The mean utility scores obtained via VAS were 0.31 for no assistive devices, 0.41 for bilateral hearing aids, 0.63 for bimodal hearing, and 0.82 for bilateral cochlear implants. As for the utility scores obtained via TTO, mean values were 0.60, 0.69, 0.81, and 0.90, respectively. None of the four groups had the same VAS- or TTO-elicited utility (p < 0.001). The post hoc test results showed that the difference was significant between any two groups (all p < 0.05). In conclusion, this study elicited health utility of bilateral hearing impairment with different assistive devices using the VAS and TTO methods. The utility values obtained provide critical data for future cost-utility analysis and health technology assessment.

Sudden bilateral hearing loss due to vertebral artery dissection

AbstractA 69‐year‐old man suddenly developed bilateral hearing impairment and dizziness. Magnetic resonance imaging showed multiple infarctions in the area of the bilateral posterior circulation, and magnetic resonance angiography showed a completely occluded right vertebral artery (VA) and severe stenosis of the left VA. Pearl and string sign was detected in the left VA by cerebral angiography, leading to the diagnosis of arterial dissection. The infarctions in the anterior inferior cerebellar artery area were considered a result of artery‐to‐artery embolism. He regained his hearing gradually and was discharged in 2 weeks. Acute ischemic stroke with bilateral hearing loss is generally accompanied by proximal severe vascular legions, with poor outcome. Prognosis may depend on the underlying vascular pathology.

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Hearing impairment is one of the most common sensory disorders in children, and targeted next-generation sequencing (NGS)-based genetic examinations can assist in its prognostication and management. In 2020, we developed a simplified 30-gene NGS panel from the original 214-gene NGS version based on Taiwanese genetic epidemiology data to increase the accessibility of NGS-based examinations. In this study, we evaluated the diagnostic performance of the 30-gene NGS panel and compared it with that of the original 214-gene NGS panel in patient subgroups with different clinical features. Data on the clinical features, genetic etiologies, audiological profiles, and outcomes were collected from 350 patients who underwent NGS-based genetic examinations for idiopathic bilateral sensorineural hearing impairment between 2020 and 2022. The overall diagnostic yield was 52%, with slight differences in genetic etiology between patients with different degrees of hearing impairment and ages of onset. No significant difference was found in the diagnostic yields between the two panels, regardless of clinical features, except for a lower detection rate of the 30-gene panel in the late-onset group. For patients with negative genetic results, where the causative variant is undetectable on current NGS-based methods, part of the negative results may be due to genes not covered by the panel or yet to be identified. In such cases, the hearing prognosis varies and may decline over time, necessitating appropriate follow-up and consultation. In conclusion, genetic etiologies can serve as references for refining targeted NGS panels with satisfactory diagnostic performance.

Early cochlear implantation in prelingual profound hearing loss in Italy, analyzed by means of a social media survey.

To assess newborn hearing screening (NHS) impact on timing of cochlear implant (CI) surgery of patients with prelingual bilateral profound hearing impairment (BPHI), in order to evaluate whether the NHS ultimately serves the needs of the target population in Italy. An online questionnaire was created to survey subjects affected by prelingual BPHL born between 1990 and 2018. Questions focused on age at BPHI diagnosis, first and second CI surgery (if performed), and the region in which the surgery was performed. The survey was distributed to potential participants via social media communities used by hearing impaired people or their family members for sharing advice and offering support. Responses were analyzed using descriptive statistics. Among the 318 respondents who completed the questionnaire, 276 (87%) reported having chosen CI surgery, 2/3 of them bilaterally. In the vast majority (97%) of cases the CI is used on a daily basis. Most of the people residing in the center (65%) and southern Italy (71%) had to move from their region of residence to perform the surgery. Late CI surgery was associated with failure to perform NHS (p = 0.007), birth before 2011 (p = 0.009), definitive diagnosis of BPHI after 6months of life (p = 0.002), and progressive hearing impairment (p < 0.001). The worldwide scientific approval of the NHS as the current best opportunity for early diagnosis and CI treatment for prelingual BPHI is confirmed by what patients and families reported via the online questionnaire used for this study. In recent years, early bilateral cochlear implantation has become increasingly available in Italy, but late diagnosis, progressive hearing loss, failure to perform the NHS and lack of follow-up are still open questions. A large proportion of families had to move from the region of residence to have their child undergo CI surgery, revealing inequalities in terms of geographical disparities. Social media has proved to be a valuable, fast and inexpensive tool for gathering information on the effectiveness of health prevention programs, involving a large sample of individuals in a short amount of time.

Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome

Objective:To analyze the molecular genetics and clinical characteristics of 3 children with syndromic deafness were analyzed to clarify their causative genes and genetic characteristics. Methods:The medical records of 3 children and their parents were collected and analyzed, including physical examination, hearing evaluation, temporal bone CT, and cranial MRI. Whole-exome sequencing（WES） was used to screen for pathogenic gene variants, and Sanger sequencing was used to verify the candidate positive variants in the probands and their parents. Results:All 3 patients were female with normal intelligence. Patient 1 and 3 had a family history of deafness, which conformed to the pattern of autosomal dominant inheritance. All three patients had bilateral profound sensorineural hearing impairment with bright-blue sclera. Other phenotypes included hypertelorism（patient 1）, multiple dyschromatosis（patient 2）, and yellowish hair（patient 2）, blepharoptosis（patient 3）. Patient 3 had bilateral vestibular enlargement, internal auditory canal enlargement, and bilateral inner ear malformations. Mother of patient 1 had only left mild hearing impairment; mother of patient 3 had bilateral hearing impairment with unilateral bright-blue sclera and yellowish hair. WES detected heterozygous variants, PAX3 c.811C>T, MITF c.632T>C, and SOX10 c.1359_1360 insGCCCCACA, in patient 1, 2, and 3, respectively. The variants in patient 1 and 3 were inherited from their mothers who had hearing impairment, and MITFvariant in patient 2 may be a spontaneous variation. The final diagnoses were that patient 1 with Waardenburg syndrome type 1（WS1）, and the mother of patient 1, patient 2, patient 3, and the mother of patient 3 with WS2. Conclusion:WS is a syndromic deafness, and the main clinical features include autosomal dominant inheritance and scleral pigment abnormalities. However, the findings of this study show that there is still phenotypic heterogeneity in WS even caused by the same gene variant, so it depends on genetic tests to confirm the diagnosis; The gene variant of patient 1 and 2 was never been reported in other patients, which expands the pathogenic variant spectrum of WS.

Fetal Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection Associated with and without Fetal Growth Restriction.

Congenital cytomegalovirus infection (cCMV) can cause fetal growth restriction (FGR) and severe sequelae in affected infants. Clinicians generally suspect cCMV based on multiple ultrasound (US) findings associated with cCMV. However, no studies have assessed the diagnostic accuracy of fetal US for cCMV-associated abnormalities in FGR. Eight FGR and 10 non-FGR fetuses prenatally diagnosed with cCMV were examined by undergoing periodic detailed US examinations, as well as postnatal physical and imaging examinations. The diagnostic accuracy of prenatal US for cCMV-associated abnormalities was compared between FGR and non-FGR fetuses with cCMV. The diagnostic sensitivity rates of fetal US for cCMV-related abnormalities in FGR vs. non-FGR fetuses were as follows: ventriculomegaly, 66.7% vs. 88.9%; intracranial calcification, 20.0% vs. 20.0%; cysts and pseudocysts in the brain, 0% vs. 0%; ascites, 100.0% vs. 100.0%; hepatomegaly, 40.0% vs. 100.0%; splenomegaly, 0% vs. 0%. The diagnostic sensitivity of fetal US for hepatomegaly and ventriculomegaly in FGR fetuses with cCMV was lower than that in non-FGR fetuses with cCMV. The prevalence of severe long-term sequelae (e.g., bilateral hearing impairment, epilepsy, cerebral palsy, and severe developmental delay) in the CMV-infected fetuses with FGR was higher, albeit non-significantly. Clinicians should keep in mind the possibility of overlooking the symptoms of cCMV in assessing fetuses with FGR.

Deafness-Infertility Syndrome and Auditory Hallucinations

Deafness-Infertility Syndrome and Auditory Hallucinations