Generoso Abes - Academia.edu (original) (raw)

Papers by Generoso Abes

Genetic Testing and Molecular Biomarkers, 2023

Background: Many indigenous peoples are at elevated risk for otitis media, however there is limit... more Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1-and FUT2-related otitis media and the validity of otoscopy and genotyping for A2ML1 and FUT2 variants in screening for otitis media and hearing loss. Method: We analyzed A2ML1 and FUT2 genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals. Results: We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with A2ML1 variants. A2ML1 and FUT2 variants were associated with high-frequency hearing loss at 4000 Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding A2ML1 or FUT2 genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss. Conclusion: Continued multidisciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.

Acta medica Philippina, Oct 8, 2012

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 29, 2006

Background: Pure tone audiometry is routinely used to determine conductive and sensorineural hear... more Background: Pure tone audiometry is routinely used to determine conductive and sensorineural hearing status. Ossicular discontinuity is usually assessed intra-operatively. If ossicular discontinuity can be predicted by pure tone audiometry, perhaps the operative procedure of choice and prognosis for hearing can also be anticipated. Objective: To determine the predictive value of preoperative pure tone audiometry on the presence of gross ossicular discontinuity in chronic otitis media. Methods: Records of 205 patients, 7 to 75 years of age undergoing their first operation for chronic otitis media were reviewed. Preoperative audiograms and operative records for tympanomastoidectomy were evaluated. A total of 162 patients meeting inclusion criteria were included in the study. Likelihood ratios for positive and negative ossicular discontinuity for frequency-specific air-bone gap cutoffs were determined. Multiple logistic regression analysis for pure tone audiometry and operative findings to predict ossicular discontinuity was performed and a model for predicting ossicular discontinuity using logistic regression obtained. Results and Conclusion: Frequency-specific air bone gap (ABG) cutoff values can predict ossicular discontinuity in chronic suppurative otitis media namely: < 20 dB ABG at 500 Hz predicts absence of ossicular discontinuity while > 50 dB ABG at 500 Hz, >30 dB ABG at 2 KHz, and > 50 dB ABG at 4 KHz best predict the presence of ossicular discontinuity in general. In the absence of cholesteatoma, the air bone gaps of <30 dB at 500 Hz and <20 dB at 1 KHz decrease probability of ossicular discontinuity from 32.97% to 2.54%. Combination of air bone gaps of >50 dB at 500 Hz, >20 dB at 2 KHz and >40 dB at 4 KHz increase the probability of ossicular discontinuity from 32.97% to 85.9%. These findings suggest that ossicular exploration may not be necessary for the former while an evaluation of the ossicular chain may be mandatory for the latter in the setting where cholesteatoma is not present or suspected. Presence of cholesteatoma, granulation tissue and size of tympanic membrane perforation are important factors to consider in predicting ossicular discontinuity.

Acta medica Philippina, Mar 31, 2017

Otology & Neurotology, Dec 1, 2007

To analyze the likelihood ratios (LRs) and predictive values of preoperative air-bone gap (ABG) l... more To analyze the likelihood ratios (LRs) and predictive values of preoperative air-bone gap (ABG) levels on the presence of gross ossicular discontinuity (OD) among chronic suppurative otitis media (CSOM) patients. Tertiary hospitals. Records of 276 patients with CSOM 7 to 75 years old undergoing their first tympanomastoidectomy were reviewed. Association of preoperative audiogram on the presence of OD was analyzed using logistic regression analysis and chi 2 tests. Frequency-specific ABG values were compared with the presence of OD. In CSOM without cholesteatoma, the ABG of 20 dB or less at 500 Hz (LR [-], 0.119; 95% confidence interval [CI], 0.016-0.867) and 30 dB or less at 1 kHz (LR [-], 0.276; 95% CI, 0.087-0.876) decreased probability of OD from 33 to 5.6% and 15.5%, respectively. Air-bone gap levels of greater than 30 dB at 2 kHz (LR [+], 2.8; 95% CI, 1.4-5.9) and greater than 40 dB at 4 kHz (LR [+], 2.2; 95% CI, 1.2-3.9) increased the probability of OD from 33 to 51 to 89%. In the presence of cholesteatoma, the chance of OD was 88%. The ability of ABG to alter probability of OD was not significant in the presence of cholesteatoma. Narrow ABG at lower frequencies suggested absence of OD. Wide ABG at higher frequencies suggested presence of OD. Simple tympanoplasty can be done to patients with a small chance of OD as assessed by pure-tone audiometry, whereas a mandatory exploration of the ossicular chain with possible reconstruction was suggested on subjects with a high chance of OD. The presence of cholesteatoma warrants ossicular chain exploration.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 28, 2007

Background: Certain indigenous populations have been noted by the World Health Organization (WHO)... more Background: Certain indigenous populations have been noted by the World Health Organization (WHO) to have the highest prevalence rates for chronic suppurative otitis media (CSOM), including the Australian Aborigines (28-43%), Greenlanders (2-10%) and Alaskan Eskimos (2-10%). Objectives: To determine the prevalence of common ear problems, particularly CSOM, among the indigenous Ati or Aeta community in Bolabog, Boracay, and to determine their hearing sensitivity using screening audiometry. Methods: Study Design-Descriptive cross-sectional study. Setting-A small Ati community in Bolabog, Boracay. Population-A total of 63 adults and children underwent medical interview and otoscopy. Additionally 24 had their hearing screened by audiometry. Results: About a quarter of the population participated in the study, including 41 children (40% of all children) and 22 adults (18% of all adults). Forty-six percent of children and 23% of adults who were examined had previous history of ear discharge, while 22% of children and 45% of adults who were examined had history of hearing loss. Seventeen percent of children had history of hearing loss in the family. CSOM was found in 18 (43.90%) children and 8 (36.36%) adults. Impacted cerumen was found in 17.1% of children. Eleven female children underwent screening audiometry. Of these, eight had normal hearing and three had abnormal findings. Thirteen adults were also tested, five of whom were male and had normal hearing bilaterally. Four of eight female adults had abnormal hearing, of which three were unilateral. Conclusions: The Ati population in Bolabog, Boracay belongs to a group with the highest prevalence rates for CSOM (27.0%). A bigger sample for screening audiometry is required for proper estimation of hearing loss prevalence. Both environmental and genetic factors may have increased the prevalence of CSOM in the Ati population of Boracay.

Otology & Neurotology, Jun 1, 2011

Background: Tuberculosis (TB) is a rare cause of otitis media. This study aims to increase awaren... more Background: Tuberculosis (TB) is a rare cause of otitis media. This study aims to increase awareness on the clinical presentation of TB otitis media and illustrate how early detection affects treatment outcome. Methods: Chart review of 12 patients (13 ears) from a tertiary hospital in Manila, Philippines, seen from 2004 to 2009. Clinical predictors of the disease were summarized. Clinical, radiologic, and audiometric outcomes after treatment were compared between treatment groups. Results: The 5 otoscopic presentations were multiple perforations, single perforation with refractory otorrhea and exuberant granulation tissue formation, single perforation with minimal otorrhea and no granulation tissue formation, intact tympanic membrane with middle ear effusion, and intact tympanic membrane with tumorlike tissue in the middle ear. Clinical predictors of the disease were history of pulmonary TB, work-related contamination of the infection, positive purified protein derivative test, positive chest radiographic finding and intraoperative granulation tissue with cheesy material, and temporal bone computed tomographic scan findings. Patients who had no middle ear surgery showed significantly better clinical, radiologic, and audiometric outcomes than those who were diagnosed late and had more complicated surgical procedure. Conclusion: The clinical presentation of TB otitis media is variable. Early detection of the early forms entail less surgical intervention and favors better treatment results.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 28, 2007

Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing... more 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.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Jun 29, 2012

To determine the prevalence of hearing loss among infants six months old and below sent for newbo... more To determine the prevalence of hearing loss among infants six months old and below sent for newborn hearing screening in our institution, and to measure the accuracy, sensitivity, specificity and positive predictive values of reflexive behavioral ("Baah") test in detecting hearing loss in infants. Methods: Design: Cross-sectional study Setting: Ear Unit of a tertiary government hospital Participants: Infants less than Six months old sent for newborn hearing screening at the Ear Unit of a tertiary government hospital from April to September, 2011 were recruited. All participants were tested with OAE for hearing screening. OAE was also used as the standard for evaluating hearing impairment. The reflexive behavioral ("Baah") test was then done using the human voice as a loud sound stimulus, and the response recorded were auropalpebral, startle and blinking response to the sound. The sensitivity, specificity, accuracy, positive and negative predictive value of the test was then measured. Results: From April to September 2011, a total of 101 patients were tested, with a male to female ratio of 1.1:1 (53 males, 48 females). The prevalence of hearing impairment in this study population was 6.9% (7 out of 101). The reflexive behavioral ("Baah") test was found to have sensitivity of 71.4%, specificity of 95.7%, accuracy rate of 94%, positive predictive value of 55.6% and negative predictive value of 97.8%. Conclusion: The reflexive behavioral ("Baah") test shows potential as an accurate, acceptable and cost-effective screening tool to identify infants that may be at higher risk for hearing impairment. This test may aid the health care providers, in areas without OAEs, in identifying infants who are in need further hearing diagnostic evaluation, with OAEs or other hearing tests. It is recommended that the "Baah" test be implemented in the community to test its reproducibility in a larger population and outside the hospital setting.

Genetic Testing and Molecular Biomarkers

Background: Many indigenous peoples are at elevated risk for otitis media, however there is limit... more Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1-and FUT2-related otitis media and the validity of otoscopy and genotyping for A2ML1 and FUT2 variants in screening for otitis media and hearing loss. Method: We analyzed A2ML1 and FUT2 genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals. Results: We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with A2ML1 variants. A2ML1 and FUT2 variants were associated with high-frequency hearing loss at 4000 Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding A2ML1 or FUT2 genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss. Conclusion: Continued multidisciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.

Acta Medica Philippina

Objectives. To determine the initial clinical diagnoses of patients with tuberculous otitis media... more Objectives. To determine the initial clinical diagnoses of patients with tuberculous otitis media (TBOM), to determine the value of PCR test, biopsy, and ancillary diagnostic procedures in detecting middle ear TB infection, and to establish the differences in treatment outcomes.Methods. The clinical records of twenty-eight patients identified with middle ear TB infection by PCR test and biopsy, from January 2010 to December 2016, were reviewed to determine their initial clinical diagnoses. The positivity rates of PCR test and biopsy were compared. The records of 12 patients included in a previous publication were revisited and included in the present study population. The combined cases were classified according to clinical diagnosis to constitute a summary of demographic characteristics, clinical diagnoses, laboratory tests, and treatment outcomes. Results of diagnostic and surgical procedures were reviewed and analyzed. Clinical findings and hearing test results before and after t...

Middle ear microbial profiles of indigenous Filipinos with chronic otitis media. All panels compa... more Middle ear microbial profiles of indigenous Filipinos with chronic otitis media. All panels compare carriers with non-carriers of the A2ML1 duplication variant. Panel description: (A) ι-diversity by observed OTUs; (B) ι-diversity by the Shannon diversity index; (C) β-diversity from unweighted UniFrac principal coordinate analysis; (D) β-diversity from weighted UniFrac principal coordinate analysis. (PDF 1019 kb)

Multilingual abstracts in the six official working languages of the United Nations. (PDF 763 kb)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2009

Outer ear microbial profiles by genotype. Panel description as in Additional file 2: Figure S1. (... more Outer ear microbial profiles by genotype. Panel description as in Additional file 2: Figure S1. (PDF 783 kb)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2009

Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing... more 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: One hundred thirty-four (134) patients who underwent one-stage surgery for chronic ot... more Objectives: One hundred thirty-four (134) patients who underwent one-stage surgery for chronic otitis media using autologous ossicular grafts were evaluated to determine functional hearing outcomes. Method: records of 134 patients who underwent one-stage surgery for chronic otitis media in an otologic practice at a university tertiary hospital from December 1987 to December 2003 were evaluated. results: Approximately 52% were males and 48% were females, with 140 ears evaluated. One hundred sixteen (116, 83%) had primary surgery and 24 (17%) had previous surgeries. cholesteatoma was seen in 82 (58%), and not in 58 (18%) (with 24 dry ears and 34 discharging ears). canal-down mastoidectomy was performed in 98 patients (70%) as opposed to 42 (30%) with canal-up procedure. One third (33.86%) had postoperative air-bone gap (AbG) of less than 10 db while more than 50% of cases had 20 db or less average postoperative AbG at 0.5, 1, 2 and 4 kHz frequencies. However, about one fourth of cases...

Journal of Medical Genetics

BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rar... more BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.MethodsWe performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues.ResultsA large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare A2ML1 variants, a common FUT2 variant and a rare, novel pathogenic variant c.1682A>G (p.Glu561Gly) within SPINK5 (LOD=4.09). Carriage of the SPINK5 missense variant resulted in increased relative abundance of Microbacteriaceae in the middle ear, along with occurrence of Microbacteriaceae in the oute...

Genetic Testing and Molecular Biomarkers, 2023

Background: Many indigenous peoples are at elevated risk for otitis media, however there is limit... more Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1-and FUT2-related otitis media and the validity of otoscopy and genotyping for A2ML1 and FUT2 variants in screening for otitis media and hearing loss. Method: We analyzed A2ML1 and FUT2 genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals. Results: We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with A2ML1 variants. A2ML1 and FUT2 variants were associated with high-frequency hearing loss at 4000 Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding A2ML1 or FUT2 genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss. Conclusion: Continued multidisciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.

Acta medica Philippina, Oct 8, 2012

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 29, 2006

Background: Pure tone audiometry is routinely used to determine conductive and sensorineural hear... more Background: Pure tone audiometry is routinely used to determine conductive and sensorineural hearing status. Ossicular discontinuity is usually assessed intra-operatively. If ossicular discontinuity can be predicted by pure tone audiometry, perhaps the operative procedure of choice and prognosis for hearing can also be anticipated. Objective: To determine the predictive value of preoperative pure tone audiometry on the presence of gross ossicular discontinuity in chronic otitis media. Methods: Records of 205 patients, 7 to 75 years of age undergoing their first operation for chronic otitis media were reviewed. Preoperative audiograms and operative records for tympanomastoidectomy were evaluated. A total of 162 patients meeting inclusion criteria were included in the study. Likelihood ratios for positive and negative ossicular discontinuity for frequency-specific air-bone gap cutoffs were determined. Multiple logistic regression analysis for pure tone audiometry and operative findings to predict ossicular discontinuity was performed and a model for predicting ossicular discontinuity using logistic regression obtained. Results and Conclusion: Frequency-specific air bone gap (ABG) cutoff values can predict ossicular discontinuity in chronic suppurative otitis media namely: < 20 dB ABG at 500 Hz predicts absence of ossicular discontinuity while > 50 dB ABG at 500 Hz, >30 dB ABG at 2 KHz, and > 50 dB ABG at 4 KHz best predict the presence of ossicular discontinuity in general. In the absence of cholesteatoma, the air bone gaps of <30 dB at 500 Hz and <20 dB at 1 KHz decrease probability of ossicular discontinuity from 32.97% to 2.54%. Combination of air bone gaps of >50 dB at 500 Hz, >20 dB at 2 KHz and >40 dB at 4 KHz increase the probability of ossicular discontinuity from 32.97% to 85.9%. These findings suggest that ossicular exploration may not be necessary for the former while an evaluation of the ossicular chain may be mandatory for the latter in the setting where cholesteatoma is not present or suspected. Presence of cholesteatoma, granulation tissue and size of tympanic membrane perforation are important factors to consider in predicting ossicular discontinuity.

Acta medica Philippina, Mar 31, 2017

Otology & Neurotology, Dec 1, 2007

To analyze the likelihood ratios (LRs) and predictive values of preoperative air-bone gap (ABG) l... more To analyze the likelihood ratios (LRs) and predictive values of preoperative air-bone gap (ABG) levels on the presence of gross ossicular discontinuity (OD) among chronic suppurative otitis media (CSOM) patients. Tertiary hospitals. Records of 276 patients with CSOM 7 to 75 years old undergoing their first tympanomastoidectomy were reviewed. Association of preoperative audiogram on the presence of OD was analyzed using logistic regression analysis and chi 2 tests. Frequency-specific ABG values were compared with the presence of OD. In CSOM without cholesteatoma, the ABG of 20 dB or less at 500 Hz (LR [-], 0.119; 95% confidence interval [CI], 0.016-0.867) and 30 dB or less at 1 kHz (LR [-], 0.276; 95% CI, 0.087-0.876) decreased probability of OD from 33 to 5.6% and 15.5%, respectively. Air-bone gap levels of greater than 30 dB at 2 kHz (LR [+], 2.8; 95% CI, 1.4-5.9) and greater than 40 dB at 4 kHz (LR [+], 2.2; 95% CI, 1.2-3.9) increased the probability of OD from 33 to 51 to 89%. In the presence of cholesteatoma, the chance of OD was 88%. The ability of ABG to alter probability of OD was not significant in the presence of cholesteatoma. Narrow ABG at lower frequencies suggested absence of OD. Wide ABG at higher frequencies suggested presence of OD. Simple tympanoplasty can be done to patients with a small chance of OD as assessed by pure-tone audiometry, whereas a mandatory exploration of the ossicular chain with possible reconstruction was suggested on subjects with a high chance of OD. The presence of cholesteatoma warrants ossicular chain exploration.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 28, 2007

Background: Certain indigenous populations have been noted by the World Health Organization (WHO)... more Background: Certain indigenous populations have been noted by the World Health Organization (WHO) to have the highest prevalence rates for chronic suppurative otitis media (CSOM), including the Australian Aborigines (28-43%), Greenlanders (2-10%) and Alaskan Eskimos (2-10%). Objectives: To determine the prevalence of common ear problems, particularly CSOM, among the indigenous Ati or Aeta community in Bolabog, Boracay, and to determine their hearing sensitivity using screening audiometry. Methods: Study Design-Descriptive cross-sectional study. Setting-A small Ati community in Bolabog, Boracay. Population-A total of 63 adults and children underwent medical interview and otoscopy. Additionally 24 had their hearing screened by audiometry. Results: About a quarter of the population participated in the study, including 41 children (40% of all children) and 22 adults (18% of all adults). Forty-six percent of children and 23% of adults who were examined had previous history of ear discharge, while 22% of children and 45% of adults who were examined had history of hearing loss. Seventeen percent of children had history of hearing loss in the family. CSOM was found in 18 (43.90%) children and 8 (36.36%) adults. Impacted cerumen was found in 17.1% of children. Eleven female children underwent screening audiometry. Of these, eight had normal hearing and three had abnormal findings. Thirteen adults were also tested, five of whom were male and had normal hearing bilaterally. Four of eight female adults had abnormal hearing, of which three were unilateral. Conclusions: The Ati population in Bolabog, Boracay belongs to a group with the highest prevalence rates for CSOM (27.0%). A bigger sample for screening audiometry is required for proper estimation of hearing loss prevalence. Both environmental and genetic factors may have increased the prevalence of CSOM in the Ati population of Boracay.

Otology & Neurotology, Jun 1, 2011

Background: Tuberculosis (TB) is a rare cause of otitis media. This study aims to increase awaren... more Background: Tuberculosis (TB) is a rare cause of otitis media. This study aims to increase awareness on the clinical presentation of TB otitis media and illustrate how early detection affects treatment outcome. Methods: Chart review of 12 patients (13 ears) from a tertiary hospital in Manila, Philippines, seen from 2004 to 2009. Clinical predictors of the disease were summarized. Clinical, radiologic, and audiometric outcomes after treatment were compared between treatment groups. Results: The 5 otoscopic presentations were multiple perforations, single perforation with refractory otorrhea and exuberant granulation tissue formation, single perforation with minimal otorrhea and no granulation tissue formation, intact tympanic membrane with middle ear effusion, and intact tympanic membrane with tumorlike tissue in the middle ear. Clinical predictors of the disease were history of pulmonary TB, work-related contamination of the infection, positive purified protein derivative test, positive chest radiographic finding and intraoperative granulation tissue with cheesy material, and temporal bone computed tomographic scan findings. Patients who had no middle ear surgery showed significantly better clinical, radiologic, and audiometric outcomes than those who were diagnosed late and had more complicated surgical procedure. Conclusion: The clinical presentation of TB otitis media is variable. Early detection of the early forms entail less surgical intervention and favors better treatment results.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Nov 28, 2007

Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing... more 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.

Philippine journal of Otolaryngology Head and Neck Surgery (On-line), Jun 29, 2012

To determine the prevalence of hearing loss among infants six months old and below sent for newbo... more To determine the prevalence of hearing loss among infants six months old and below sent for newborn hearing screening in our institution, and to measure the accuracy, sensitivity, specificity and positive predictive values of reflexive behavioral ("Baah") test in detecting hearing loss in infants. Methods: Design: Cross-sectional study Setting: Ear Unit of a tertiary government hospital Participants: Infants less than Six months old sent for newborn hearing screening at the Ear Unit of a tertiary government hospital from April to September, 2011 were recruited. All participants were tested with OAE for hearing screening. OAE was also used as the standard for evaluating hearing impairment. The reflexive behavioral ("Baah") test was then done using the human voice as a loud sound stimulus, and the response recorded were auropalpebral, startle and blinking response to the sound. The sensitivity, specificity, accuracy, positive and negative predictive value of the test was then measured. Results: From April to September 2011, a total of 101 patients were tested, with a male to female ratio of 1.1:1 (53 males, 48 females). The prevalence of hearing impairment in this study population was 6.9% (7 out of 101). The reflexive behavioral ("Baah") test was found to have sensitivity of 71.4%, specificity of 95.7%, accuracy rate of 94%, positive predictive value of 55.6% and negative predictive value of 97.8%. Conclusion: The reflexive behavioral ("Baah") test shows potential as an accurate, acceptable and cost-effective screening tool to identify infants that may be at higher risk for hearing impairment. This test may aid the health care providers, in areas without OAEs, in identifying infants who are in need further hearing diagnostic evaluation, with OAEs or other hearing tests. It is recommended that the "Baah" test be implemented in the community to test its reproducibility in a larger population and outside the hospital setting.

Genetic Testing and Molecular Biomarkers

Background: Many indigenous peoples are at elevated risk for otitis media, however there is limit... more Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1-and FUT2-related otitis media and the validity of otoscopy and genotyping for A2ML1 and FUT2 variants in screening for otitis media and hearing loss. Method: We analyzed A2ML1 and FUT2 genotypes together with demographic, otologic and audiologic data from tympanometry and hearing level assessments of 109 indigenous individuals. Results: We confirmed previous findings of a spectrum of nonsyndromic otitis media as associated with A2ML1 variants. A2ML1 and FUT2 variants were associated with high-frequency hearing loss at 4000 Hz. As expected, young age was associated with flat tympanograms, and eardrum perforations due to chronic otitis media were associated with severe-to-profound hearing loss across frequencies. Adding A2ML1 or FUT2 genotypes improved the validity of otoscopy as a screening test to rule out moderate-to-profound hearing loss. Conclusion: Continued multidisciplinary management and audiologic follow-up using tympanometry and screening audiometry are needed to document and treat otitis media and prevent permanent hearing loss in the indigenous community.

Acta Medica Philippina

Objectives. To determine the initial clinical diagnoses of patients with tuberculous otitis media... more Objectives. To determine the initial clinical diagnoses of patients with tuberculous otitis media (TBOM), to determine the value of PCR test, biopsy, and ancillary diagnostic procedures in detecting middle ear TB infection, and to establish the differences in treatment outcomes.Methods. The clinical records of twenty-eight patients identified with middle ear TB infection by PCR test and biopsy, from January 2010 to December 2016, were reviewed to determine their initial clinical diagnoses. The positivity rates of PCR test and biopsy were compared. The records of 12 patients included in a previous publication were revisited and included in the present study population. The combined cases were classified according to clinical diagnosis to constitute a summary of demographic characteristics, clinical diagnoses, laboratory tests, and treatment outcomes. Results of diagnostic and surgical procedures were reviewed and analyzed. Clinical findings and hearing test results before and after t...

Middle ear microbial profiles of indigenous Filipinos with chronic otitis media. All panels compa... more Middle ear microbial profiles of indigenous Filipinos with chronic otitis media. All panels compare carriers with non-carriers of the A2ML1 duplication variant. Panel description: (A) ι-diversity by observed OTUs; (B) ι-diversity by the Shannon diversity index; (C) β-diversity from unweighted UniFrac principal coordinate analysis; (D) β-diversity from weighted UniFrac principal coordinate analysis. (PDF 1019 kb)

Multilingual abstracts in the six official working languages of the United Nations. (PDF 763 kb)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2009

Outer ear microbial profiles by genotype. Panel description as in Additional file 2: Figure S1. (... more Outer ear microbial profiles by genotype. Panel description as in Additional file 2: Figure S1. (PDF 783 kb)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2009

Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing... more 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: One hundred thirty-four (134) patients who underwent one-stage surgery for chronic ot... more Objectives: One hundred thirty-four (134) patients who underwent one-stage surgery for chronic otitis media using autologous ossicular grafts were evaluated to determine functional hearing outcomes. Method: records of 134 patients who underwent one-stage surgery for chronic otitis media in an otologic practice at a university tertiary hospital from December 1987 to December 2003 were evaluated. results: Approximately 52% were males and 48% were females, with 140 ears evaluated. One hundred sixteen (116, 83%) had primary surgery and 24 (17%) had previous surgeries. cholesteatoma was seen in 82 (58%), and not in 58 (18%) (with 24 dry ears and 34 discharging ears). canal-down mastoidectomy was performed in 98 patients (70%) as opposed to 42 (30%) with canal-up procedure. One third (33.86%) had postoperative air-bone gap (AbG) of less than 10 db while more than 50% of cases had 20 db or less average postoperative AbG at 0.5, 1, 2 and 4 kHz frequencies. However, about one fourth of cases...

Journal of Medical Genetics

BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rar... more BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.MethodsWe performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues.ResultsA large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare A2ML1 variants, a common FUT2 variant and a rare, novel pathogenic variant c.1682A>G (p.Glu561Gly) within SPINK5 (LOD=4.09). Carriage of the SPINK5 missense variant resulted in increased relative abundance of Microbacteriaceae in the middle ear, along with occurrence of Microbacteriaceae in the oute...