Objective:To analyze genetic factors and phenotype characteristics in pediatric population with slight-to-moderate sensorineural hearing loss. Methods:Children with slight-to-moderate sensorineural hearing loss of and their parents, enrolled from the Chinese Deafness Genome Project, were studied. Hearing levels were assessed using pure tone audiometry, behavioral audiometry, auditory steady state response（ASSR）, auditory brainstem response（ABR） thresholds, and deformed partial otoacoustic emission（DPOAE）. Classification of hearing loss is according to the 2022 American College of Medical Genetics and Genomics（ACMG） Clinical Practice Guidelines for Hearing Loss. Whole exome sequencing（WES） and deafness gene Panel testing were performed on peripheral venous blood from probands and validations were performed on their parents by Sanger sequencing. Results:All 134 patients had childhood onset, exhibiting bilateral symmetrical slight-to-moderate sensorineural hearing loss, as indicated by audiological examinations. Of the 134 patients, 29（21.6%） had a family history of hearing loss, and the rest were sporadic patients. Genetic causative genes were identified in 66（49.3%） patients. A total of 11 causative genes were detected, of which GJB2 was causative in 34 cases（51.5%）, STRC in 10 cases（15.1%）, MPZL2 gene in six cases（9.1%）, and USH2A in five cases（7.6%）.The most common gene detected in slight-to-moderate hearing loss was GJB2, with c. 109G>A homozygous mutation found in 16 cases（47.1%） and c. 109G>A compound heterozygous mutation in 9 cases（26.5%）. Conclusion:This study provides a crucial genetic theory reference for early screening and detection of mild to moderate hearing loss in children, highlighting the predominance of recessive inheritance and the significance of gene like GJB2, STRC, MPZL2, USH2A.
Humans ; Child ; Connexins/genetics* ; Connexin 26/genetics* ; Hearing Loss, Sensorineural/diagnosis* ; Mutation ; Usher Syndromes ; Hearing Loss, Bilateral ; Audiometry, Pure-Tone ; Intercellular Signaling Peptides and Proteins

Objective: To explore the association between occupational noise exposure and cardiovascular disease (CVD) risk in a large Chinese population. Methods: In December 2019, the study included 21412 retired participants from the Dongfeng-Tongji Cohort Study at baseline from September 2008 to June 2010, occupational noise exposure was evaluated through workplace noise level and/or the job titles. In a subsample of 8931 subjects, bilateral hearing loss was defined as a pure-tone mean of 25 dB or higher at 0.5, 1 , 2, and 4 kHz in both ears. Logistic regression models were used to explore the association of occupational noise exposure, bilateral hearing loss with 10-year CVD risk. Results: Compared with participants without occupational noise exposure, the 10-year CVD risk was significantly higher for noise exposure duration ≥20 years (OR=1.20, 95%CI:1.01-1.41 , P=0.001) after adjusting for potential confounders. In the sex-specific analysis, the association was only statistically significant in males (OR=2.34, 95%CI: 1.18-4.66, P<0.001) , but not in females (OR=1.15, 95%CI:0.97-1.37, P=0.153). In the subsample analyses, bilateral hearing loss, which was an indicator for exposure to loud noise, was also associated with a higher risk of 10-year CVD (OR= 1.17, 95% CI:1.05-1.44, P <0.001) , especially for participants who were males (OR =1.24, 95% CI:1.07-2.30, P<0.001) , aged equal and over 60 years old (OR=2.30, 95%CI: 1.84-2.88, P<0.001) , and exposed to occupational noise (OR=1.66, 95%CI: 1.02-2.70, P=0.001). Conclusion: Occupational noise exposure may be a risk factor for CVD.
Aged ; Cardiovascular Diseases/epidemiology* ; Cohort Studies ; Female ; Hearing Loss, Bilateral/complications* ; Hearing Loss, Noise-Induced/epidemiology* ; Humans ; Male ; Middle Aged ; Noise, Occupational/adverse effects* ; Occupational Diseases/epidemiology* ; Occupational Exposure/adverse effects*

Wernicke encephalopathy is a syndrome caused by thiamine deficiency whose three typical symptoms are ophthalomoplegia, ataxia, and confusion. There are also rare reports of bilateral hearing loss, which can be caused by damage to the bilateral inferior colliculus or thalamic lesions, or by energy failure of the cochlea. This case suggests that thiamine should be administered based on the possibility of Wernicke encephalopathy occurring in malnourished or alcoholic patients with sudden bilateral hearing loss.
Alcoholics ; Ataxia ; Cochlea ; Hearing Loss ; Hearing Loss, Bilateral ; Humans ; Inferior Colliculi ; Thiamine ; Thiamine Deficiency ; Wernicke Encephalopathy

BACKGROUND: The aim of this study was to observe long-term outcomes of very low birth weight infants (VLBWIs) born between 2013 and 2014 in Korea, especially focusing on neurodevelopmental outcomes. METHODS: The data were collected from Korean Neonatal Network (KNN) registry from 43 and 54 participating units in 2013 and 2014, respectively. A standardized electronic case report form containing 30 items related to long-term follow up was used after data validation. RESULTS: Of 2,660 VLBWI, the mean gestational age and birth weight were 291/7 ± 26/7 weeks and 1,093 ± 268 g in 2013 and 292/7 ± 26/7 weeks and 1,125 ± 261 g in 2014, respectively. The post-discharge mortality rate was 1.2%–1.5%. Weight < 50th percentile was 46.5% in 2013 and 66.1% in 2014. The overall prevalence of cerebral palsy among the follow up infants was 6.2% in 2013 and 6.6% in 2014. The Bayley Scales of Infant Developmental Outcomes version II showed 14%–25% of infants had developmental delay and 3%–8% of infants in Bayley version III. For the Korean developmental screening test for infants and children, the area “Further evaluation needed” was 5%–12%. Blindness in both eyes was reported to be 0.2%–0.3%. For hearing impairment, 0.8%–1.9% showed bilateral hearing loss. Almost 50% were readmitted to hospital with respiratory illness as a leading cause. CONCLUSION: The overall prevalence of long-term outcomes was not largely different among the VLBWI born between 2013 and 2014. This study is the first large national data study of long-term outcomes.
Birth Weight ; Blindness ; Cerebral Palsy ; Child ; Child Development ; Follow-Up Studies ; Gestational Age ; Hearing Loss ; Hearing Loss, Bilateral ; Humans ; Incidence ; Infant* ; Infant, Very Low Birth Weight* ; Korea ; Mass Screening ; Mortality ; Prevalence ; Weights and Measures

PURPOSE: Spatial hearing refers to the ability to understand speech and identify sounds in various environments. We assessed the validity of the Korean version of the Spatial Hearing Questionnaire (K-SHQ). MATERIALS AND METHODS: We performed forward translation of the original English SHQ to Korean and backward translation from the Korean to English. Forty-eight patients who were able to read and understand Korean and received a score of 24 or higher on the Mini-Mental Status Examination were included in the study. Patients underwent pure tone audiometry (PTA) using a standard protocol and completed the K-SHQ. Internal consistency was evaluated using Cronbach's alpha, and factor analysis was performed to prove reliability. Construct validity was tested by comparing K-SHQ scores from patients with normal hearing to those with hearing impairment. Scores were compared between subjects with unilateral or bilateral hearing loss and between symmetrical and asymmetrical hearing impairment. RESULTS: Cronbach's alpha showed good internal consistency (0.982). Two factors were identified by factor analysis: There was a significant difference in K-SHQ scores for patients with normal hearing compared to those with hearing impairment. Patients with asymmetric hearing impairment had higher K-SHQ scores than those with symmetric hearing impairment. This is related to a lower threshold of PTA in the better ear of subjects. The hearing ability of the better ear is correlated with K-SHQ score. CONCLUSION: The K-SHQ is a reliable and valid tool with which to assess spatial hearing in patients who speak and read Korean. K-SHQ score reflects the severity and symmetry of hearing impairment.
Audiometry ; Ear ; Hearing Loss* ; Hearing Loss, Bilateral ; Hearing* ; Humans ; Sound Localization

OBJECTIVE: To determine the agreement between Otoacoustic Emission and "Baah" tests for detecting binaural hearing loss in infants referred for hearing evaluation in a local community setting.
METHOD: This is a retrospective review done in a Private Community-based Secondary Specialty Hospital. Bilateral hearing test results of 788 neonates and infants obtained between September 2011 and January 2013 using human voice "BAAH" test and OAE were reviewed from January 2014 to September 2015.
RESULTS: There were 432 males and 356 females (male: female ratio 1.2:1) with a mean age of 11.17 days (range of 0-143 days). Of the 780 infants with bilateral "Pass" using OAE, all were screened as "with response" by "Baah" tests. Five infants with bilateral "refer" results using OAE yielded "no response" on "Baah" test. Sensitivity of 'Baah' test was 100%, specificity was 99.5%, with positive predictive value of 62.5%, and negative predictive value of 100%. There was good agreement noted between OAE and "Baah" (kappa=.77, p<.001).
CONCLUSION: The "Baah" test is a possible alternative to OAE in initially detecting binaural hearing loss in areas where equipment and personnel are limited. Although "Baah" test could only detect 62% of infants with binaural hearing loss and could not detect unilateral hearing loss, infants detected with binaural hearing loss can be immediately referred to centers with more sophisticated equipment.

Facioscapulohumeral muscular dystrophy (FSHD) presents a muscular weakness in the face, shoulder girdle, and legs. In addition, bilateral, progressive, high-frequency sensorineural hearing loss (SNHL) can be expressed. A 3-year-old boy visited with bilateral facial paralysis and bilateral hearing loss. Audiological evaluations revealed bilateral, progressive, sloping SNHL and bilateral hearing aids was used for more than 3 years. Cochlear implantation was carried out on left side when he was 6 years old and on right side when he was 7 years old. Seven months after cochlear implantation on left side, his shoulder muscle weakness was found and the genetic analysis showed decreased D4Z4 repeat size in 4qA allele confirming a diagnosis of FSHD. After auditory rehabilitation using electroacoustic stimulation, his hearing and speech perception were much improved. This case suggests that cochlear implantation can be beneficial in patients with SNHL associated with FSHD.
Alleles ; Child, Preschool ; Cochlear Implantation* ; Cochlear Implants* ; Diagnosis ; Facial Paralysis ; Hearing ; Hearing Aids ; Hearing Loss ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural* ; Humans ; Leg ; Male ; Muscle Weakness ; Muscular Dystrophy, Facioscapulohumeral* ; Rehabilitation ; Shoulder ; Speech Perception

Granulomatosis with polyangiitisis [(GPA) or Wegener granulomatosis] is a multi-system disease characterized by granuloma formation and necrotizing vasculitis. GPA classically shows involvement of the respiratory tracts and the renal system. However, locoregional disease is common and may include otologic manifestations. Although otologic involvement can occur during the course of GPA, no report has described facial palsy with sudden sensorineural total deafness with vertigo as the presenting feature of GPA. This case describes a patient with multiorgan involving resistant form of GPA initially presenting with bilateral profound sudden sensorineural hearing loss and left facial paralysis with vertigo. The condition responded well to treatment with rituximab.
Deafness ; Facial Paralysis* ; Granuloma ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden* ; Humans ; Respiratory System ; Rituximab ; Vasculitis ; Vertigo

OBJECTIVE: To analyze the abnormal conditions of the affected ear and the contralateral ear of patients with unilateral Meniere's disease and the prevalence of bilateral abnormalities among these unilateral Meniere disease population, providing reference for the clinical treatment strategies for Meniére disease. METHOD: A retrospective analysis of 106 Meni6re disease cases was performed, the abnormal incidence of the affected ears, the contralateral ears and the bilateral abnormalities were calculated, and the disease characteristics were analyzed. RESULT: The bilateral ears abnormal incidence of unilateral Meniére disease was 35. 85% (38/106); the cochlear symptoms of the contralateral ears often occurred 2. 25 years later of the symptoms of Meni6re disease; contralateral cochlear symptoms included at least two symptoms of tinnitus, deafness and ear fullness; 39. 47%(15/38) patients with bilateral abnormalities would appear binaural hearing impairment. CONCLUSION This study showed that about one-third of unilateral Meniére diseases have binaural symptoms, among which about one-third would occur bilateral hearing loss. Therefore, it is necessary to consider the course of disease and the symptoms of the contralateral ear before taking damage or destructive method for treating Meniére's disease clinically.
Cochlea ; physiopathology ; Deafness ; Ear ; abnormalities ; Hearing Loss, Bilateral ; epidemiology ; Humans ; Incidence ; Meniere Disease ; epidemiology ; Prevalence ; Retrospective Studies ; Tinnitus

Sudden sensorineural hearing loss (SNHL) develops usually in unilateral ear without known etiology. In contrast, bilateral sudden SNHL is mostly related to serious systemic diseases and have a severe hearing loss and poor prognosis compared than unilateral one. We describe here a 59-year-old man presented with a bilateral sudden SNHL and vertigo possibly attributed to dolichoectasia in vertebrobasilar artery, and discuss the possible mechanism.
Arteries ; Ear ; Hearing Loss ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden ; Humans ; Middle Aged ; Prognosis ; Vertebrobasilar Insufficiency ; Vertigo