Lack of Methylation Changes in and Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.

Objective: Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in and another in in Filipino patients with SNHL compared to hearing control individuals.

Methods: We investigated an promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure.

Pilot Implementation of a Community-based, eHealth-enabled Service Delivery Model for Newborn Hearing Screening and Intervention in the Philippines.

Objectives: This study explores the potential of the HeLe Service Delivery Model, a community-based newborn hearing screening (NHS) program supported by a web-based referral system, in improving provision of hearing care services.

Methods: This prospective observational study evaluated the HeLe Service Delivery Model based on records review and user perspectives. We collected system usage logs from July to October 2018 and data on patient outcomes.

Design of a Blended Learning Course for Training Community Healthcare Providers on eHealth-enabled Newborn Hearing Screening.

Objectives: We present in this article the design and evaluation of a blended learning approach for training community healthcare providers in performing newborn hearing screening (NHS).

Methods: We developed a blended learning course for training community healthcare providers on eHealth-enabled NHS, following Bloom's revised taxonomy of educational objectives. The training involved three components: computer-based training (CBT), face-to-face (FTF) training, and on-site coaching.

Pilot Implementation of a Computer-based Training Course on Newborn Hearing Screening and Teleaudiology among Primary Healthcare Providers in Low Resource Settings.

Objective: Newborn hearing screening (NHS) in the Philippines has been mandated by law since 2009. However, lack of awareness and knowledge about NHS remains a challenge, especially among healthcare providers. This paper describes the pilot implementation of a computer-based training (CBT) course on NHS and teleaudiology among primary healthcare providers (PHCPs) in rural Philippines.

Audiologic Measures in an Indigenous Community with and Related Otitis Media.

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 variants and a common variant underwent additional phenological testing. In this study, we describe the audiologic profiles in - and -related otitis media and the validity of otoscopy and genotyping for and variants in screening for otitis media and hearing loss.

Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media.

Otitis media (OM), defined as infection or inflammation of the middle ear (ME), remains a major public health problem worldwide. Cholesteatoma is a non-cancerous, cyst-like lesion in the ME that may be acquired due to chronic OM and cause disabling complications. Surgery is required for treatment, with high rates of recurrence.

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Clinical and exome data from 15 children with hearing loss were reviewed.

Otitis media susceptibility and shifts in the head and neck microbiome due to variants.

Background: Otitis 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.

Methods: We 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.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an indigenous Filipino population and in US children. In this report exome and Sanger sequencing was performed using DNA samples from the indigenous Filipino population, Filipino cochlear implantees, US probands, Finnish, and Pakistani families with otitis media.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV.

The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.

Hypothesis: Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.

Background: Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial.

Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media.

In this report, we describe the knowledge and beliefs on causes and management of otitis media of an indigenous Filipino community with a high prevalence of otitis media that is associated with an A2ML1 variant. Community lectures and individual genetic counseling were provided as intervention. Knowledge, beliefs, and health care-seeking behavior pertaining to otitis media were assessed pre- and post-genetic counseling.