Background: 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. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1, CBLN3 and GDPD5, two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss.
HPV infection is one of the most studied risk factors in cervical cancer—the second most common cancer site and cause of death due to cancer in the Philippines. However, there is a lack of population-based epidemiological data on cervical HPV infection in the Philippines. Local reports on co-infections with other lower genital tract pathogens, commonly reported globally, are also lacking, which emphasizes the need to increase efforts in targeting HPV prevalence, genotype, and distribution. Hence, we aim to determine the molecular epidemiology and natural history of HPV infection among reproductive-age Filipino women using a community-based prospective cohort design. Women from rural and urban centers will be screened until the target sample size of 110 HPV-positive women (55 from rural sites and 55 from urban sites) is reached. Cervical and vaginal swabs will be collected from all screened participants. For HPV-positive patients, HPV genotypes will be determined. One hundred ten healthy controls will be selected from previously screened volunteers. The cases and controls will comprise the multi-omics subset of participants and will be followed up after 6 and 12 months for repeat HPV screening. Metagenomic and metabolomic analyses of the vaginal swabs will also be performed at baseline, after 6 months, and after 12 months. The results of this study will update the prevalence and genotypic distribution of cervical HPV infection among Filipino women, determine whether the current vaccines used for HPV vaccination programs capture the most prevalent high-risk HPV genotypes in the country, and identify vaginal community state types and bacterial taxa associated with the natural history of cervical HPV infection. The results of this study will be used as the basis for developing a biomarker that can help predict the risk of developing persistent cervical HPV infection in Filipino women.
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. Methods. A four-module web-based training course on newborn hearing screening and teleaudiology in an online learning management system (LMS) was field-tested among PHCPs from eight rural communities in the Philippines. Participants were given four weeks to complete the course. Results. Forty-two PHCPs participated in the CBT. Thirty-four (81%) completed the whole course (mean attrition rate of 4.8% per module) at a mean duration of 10.2 days. Baseline data shows that participants had no NHS training, although the majority (83%) had information and communications technology (ICT) training. Comparison of preand post-test mean scores showed a 24.0% (p<0.001) significant increase in the post-test in all four modules. Passing rates (i.e., score ≥70%) from pre- to post-test increased by 54.6% (range: 38-80% increase). Usability of the CBT was rated high with a mean score of 4.32 out of 5 (range: 4.13 to 4.47), covering all eight parameters. Participants expressed general satisfaction and a positive attitude on CBT to improve knowledge on NHS and teleaudiology. Conclusion. Even in low resource settings where gaps in ICT infrastructure exist, eLearning can be used as an alternative approach to increase awareness and support training of healthcare providers on newborn hearing screening.