A duplication variant within middle-ear-specific gene A2ML1 co-segregates with otitis media in an indigenous Filipino pedigree (LOD score=7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by three otitis-prone European- and Hispanic-American children, but is absent in non-otitis-prone children and >62,000 next-generation sequences. Seven additional A2ML1 variants were identified in six otitis-prone children. Collectively our studies support a role for A2ML1 in the pathophysiology of otitis media.
BackgroundPreviously rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children. The goal of this study is to describe differences in the middle ear microbiome between carriers and non-carriers of an A2ML1 duplication variant that increases risk for chronic otitis media among indigenous Filipinos with poor health care access.MethodsEar swabs were obtained from 16 indigenous Filipino individuals with chronic otitis media, of whom 11 carry the A2ML1 duplication variant. Ear swabs were submitted for 16S rRNA gene sequencing.ResultsGenotype-based differences in microbial richness, structure, and composition were identified, but were not statistically significant. Taxonomic analysis revealed that the relative abundance of the phyla Fusobacteria and Bacteroidetes, and genus Fusobacterium were nominally increased in carriers compared to non-carriers, but were non-significant after correction for multiple testing. We also detected rare bacteria including Oligella that was reported only once in the middle ear.ConclusionsThese findings suggest that A2ML1-related otitis media susceptibility may be mediated by changes in the middle ear microbiome. Knowledge of middle ear microbial profiles according to genetic background can be potentially useful for therapeutic and prophylactic interventions for otitis media and can guide public health interventions towards decreasing otitis media prevalence within the indigenous Filipino community.Electronic supplementary materialThe online version of this article (doi:10.1186/s40249-016-0189-7) contains supplementary material, which is available to authorized users.
Objective To identify genetic and environmental risk factors for otitis media in an indigenous Filipino population Study Design Cross-sectional study Setting Indigenous Filipino community Subjects and Methods Clinical history and information on breastfeeding, tobacco smoke exposure and swimming were obtained from community members. Heads of households were interviewed for family history and personal beliefs on ear health. Height and weight were measured. Otoscopic findings were described for presence and character of perforation or discharge. An A2ML1 duplication variant that confers otitis media susceptibility was Sanger-sequenced in all DNA samples. Co-occurrence of middle ear bacteria detected by 16S rRNA gene sequencing was determined according to A2ML1 genotype and social cluster. Results The indigenous Filipino population has a ~50% prevalence of otitis media. Young age was associated with otitis media (4 age strata; p=0.004), however age was non-significant as a bi-stratal or continuous variable. There was no association between otitis media and gender, body mass index, breastfeeding, tobacco exposure or deep swimming. In multivariate analyses, A2ML1 genotype is the strongest predictor of otitis media, with an odds ratio of 3.7 (95%CI: 1.3, 10.8; p=0.005). When otitis media diagnoses were plotted across ages, otitis media was observed within the first year of life and chronic otitis media persisted up to adulthood, particularly in A2ML1 variant carriers. Conclusion Among indigenous Filipinos, A2ML1 genotype is the primary risk factor for otitis media and main determinant of disease progression, although age, the middle ear microbiome and social clusters might modulate the effect of the A2ML1 genotype.
The SLC26A4 c.706C>G (p.Leu236Val) variant is a frequent cause of congenital hearing impairment in Filipinos and is associated with bilateral EVA and increased presurgical audiometric thresholds, but does not adversely affect post-implant outcomes.
Objective: To calculate the accuracy, sensitivity, specificity and positive predictive values of the Siemens HearCheck™ Navigator in detecting hearing loss and to compare values of these parameters when the examination is done in a soundproof booth and in a quiet room. Methods: Design: Analytical, cross-sectional study Setting: Tertiary Public University Hospital Patients: Patients seen at the Ear Unit of a tertiary public university hospital from June 2009 to August 2010 were tested using the Siemens HearCheck™ Navigator and pure tone audiometry, inside a soundproof audiometry booth and in a quiet room with an ambient noise of 50dB, with a different investigator for each examination. Each ear was treated as a separate subject. Results obtained from the HearCheck™ Navigator were designated as observed values and were classified as “no hearing loss” for green light, and “with hearing loss” for yellow or red lights. Results were compared with pure tone air conduction averages designated as gold standard values. Normal hearing acuity (0-25 dB) was classified as no hearing loss. Pure tone air conduction averages of 26dB and above were classified as “with hearing loss” and were further stratified as mild hearing loss (26-40dB) and moderate or worse hearing loss (>41 dB). Observed and gold standard values were compared and tabulated in a 2x2 table for all levels of hearing loss, mild hearing loss, and moderate or worse hearing loss. Accuracy, sensitivity, specificity, positive and negative predictive values of the Siemens HearCheck™ Navigator inside a soundproof audiometry booth and in a quiet room were determined using pure tone audiometry as the gold standard. Results: 100 patients (200 ears) were tested, with a median age of 43 years old (range 15-75), and an almost equal number of male and female participants (52 males, 48 females). Accuracy rate of the Siemens HearCheck™ Navigator inside the soundproof audiometry booth and in a quiet room were 82.5% and 84% respectively for all levels of hearing loss. Sensitivity, specificity, positive and negative predictive values were similar whether the examination was done inside the soundproof audiometry booth or in a quiet room. These values were notably higher in patients with moderate or worse hearing loss compared to patients with mild hearing loss. Conclusion: The Siemens HearCheck™ Navigator shows potential as an accurate, portable, easy-to-use tool to screen for hearing loss, especially for cases of moderate or worse hearing loss, without the need for soundproof audiometry booths or special training. It is recommended that further studies be done to differentiate degrees of hearing loss, and to evaluate its usefulness in other target populations, including school children and the elderly. Keywords: hearing screening, hearing screening tool, accuracy, hearingloss, HearCheck™ Navigator
Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing and balance among Filipinos. Over the years it, has provided audiologic services to thousands of patients annually and has published relevant hearing and balance research. Objective: To describe the patients served by the PNEI in terms of age, region of origin, occupation, pretest diagnosis, and audiologic results. Methods: Study Design: Cross-sectional study Setting: National tertiary care center Population: All records of patients referred for audiologic testing at PNEI in 2006 were reviewed and encoded into analyzable format. Results: A total of 1,756 patients had audiologic records for review. Median age was 32.5 years, with the age distribution presented according to sex, type of tests done including common reasons for referral, and median threshold levels by frequency. Coverage was national in scope, with most patients coming from the National Capital Region and from Regions III and IVa. Occupation was indicated in 37.8% of the working age group, most of whom were unemployed. The most common pretest diagnosis was chronic otitis media (26.6%), followed by hearing loss of unknown etiology (13.0%) and tinnitus (9.3%). Severity of hearing impairment based on pure tone audiometry was variable, and was presented according to common diagnoses. About 39% of hearing impairment cases were sensorineural, 36% conductive and 25% due to mixed defect. Bilateral Type A ears were found in 45.4% of patients by tympanometry, while 29.3% were bilateral Type B. For otoacoustic emissions, 69.0% were labeled as “refer” in at least one ear. Conclusion: The PNEI is a major national referral center for audiology that holds much promise in developing programs for national surveillance of the hearing status of different sectors in Philippine society. Keywords: Philippine National Ear Institute, Philippines, patient profile, audiology, audiometry, tympanometry, otoacoustic emissions, chronic otitis media
Background:The Philippine National Ear Institute (PNEI) was created to promote health of hearing and balance among Filipinos. Over the years, it has provided audiologic services to thousands of patients annually and has published relevant hearing and balance research.Objective: To describe the patients served by the PNEI in terms of age, region of origin, occupation, pretest diagnosis, and audiologic results. Methods:Study Design -Cross-sectional study Setting -National tertiary care center Population -All records of patients referred for audiologic testing at PNEI in 2006 were reviewed and encoded into analyzable format.Results: A total of 1,756 patients had audiologic records for review. Median age was 32.5 years, with the age distribution presented according to sex, type of tests done including common reasons for referral, and median threshold levels by frequency. Coverage was national in scope, with most patients coming from the National Capital Region and from Regions III and IVa. Occupation was indicated in 37.8% of the working age group, most of whom were unemployed. The most common pretest diagnosis was chronic otitis media (26.6%), followed by hearing loss of unknown etiology (13.0%) and tinnitus (9.3%). Severity of hearing impairment based on pure tone audiometry was variable, and was presented according to common diagnoses. About 39% of hearing impairment cases were sensorineural, 36% conductive and 25% due to mixed defect. Bilateral Type A ears were found in 45.4% of patients by tympanometry, while 29.3% were bilateral Type B. For otoacoustic emissions, 69.0% were labeled as "refer" in at least one ear. Conclusion:The PNEI is a major national referral center for audiology that holds much promise in developing programs for national surveillance of the hearing status of different sectors in Philippine society.
Objectives. To determine the agreement between 1) ear examination findings of the otorhinolaryngologist using an otoscope and trained elementary school nurses using a penlight, 2) hearing screening findings of the otorhinolaryngologist and elementary school nurses, both using the Philippine National Ear Institute (PNEI) Method of 512 Hz Tuning Fork Test (TFT) and 3) PNEI Method of 512 Hz TFT findings and screening audiometry findings. Methods. In this continuing study, nurses residing in the venue of the study, and previously trained in ear examination using a penlight and hearing screening using the PNEI 512 Hz TFT, conducted these in school children who attended the hearing screening and medical mission. Otoscopy, PNEI Method of 512 Hz TFT, and screening audiometry were then conducted on the children by the otolaryngologist. The nurses and the otolaryngologist performed independent and blinded assessments. Results. Eighteen nurses and ninety children participated in the study. Data subjected to Kappa statistics showed good agreement between nurses and otorhinolaryngologist’s findings in the examination of the external canal and tympanic membrane and in PNEI Method of 512 Hz TFTs, and between the PNEI Method of 512 Hz TFT and screening audiometry. Conclusion. PNEI methods of penlight ear examination and 512 Hz TFT may be effective tools for early detection of common ear conditions and hearing screening in Filipino school children. These may be conducted in the school setting not only by otorhinolaryngologists but also by adequately trained school nurses.
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