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BackgroundA mobile app generates passive data, such as GPS data traces, without any direct involvement from the user. These passive data have transformed the manner of traditional assessments that require active participation from the user. Passive data collection is one of the most important core techniques for mobile health development because it may promote user retention, which is a unique characteristic of a software medical device. ObjectiveThe primary aim of this study was to quantify user retention for the “Staff Hours” app using survival analysis. The secondary aim was to compare user retention between passive data and active data, as well as factors associated with the survival rates of user retention. MethodsWe developed an app called “Staff Hours” to automatically calculate users’ work hours through GPS data (passive data). “Staff Hours” not only continuously collects these passive data but also sends an 11-item mental health survey to users monthly (active data). We applied survival analysis to compare user retention in the collection of passive and active data among 342 office workers from the “Staff Hours” database. We also compared user retention on Android and iOS platforms and examined the moderators of user retention. ResultsA total of 342 volunteers (224 men; mean age 33.8 years, SD 7.0 years) were included in this study. Passive data had higher user retention than active data (P=.011). In addition, user retention for passive data collected via Android devices was higher than that for iOS devices (P=.015). Trainee physicians had higher user retention for the collection of active data than trainees from other occupations, whereas no significant differences between these two groups were observed for the collection of passive data (P=.700). ConclusionsOur findings demonstrated that passive data collected via Android devices had the best user retention for this app that records GPS-based work hours.

Background/Objective: The genetic landscape of sensorineural hearing impairment (SNHI) varies across populations. In Mongolia, previous studies have shown a lower prevalence of GJB2 mutations and a higher frequency of variants in other deafness-related genes. This study aimed to investigate the genetic variants associated with idiopathic SNHI in Mongolian patients. Methods: We utilized the next-generation sequencing for investigating the causative mutations in 99 Mongolian patients with SNHI. Results: We identified pathogenic variants in 53 of the 99 SNHI patients (54%), with SLC26A4 being the most frequently mutated gene. The c.919-2A>G variant in SLC26A4 was the most prevalent, accounting for 46.2% of the mutant alleles. In addition, we identified 19 other known and 21 novel mutations in a total of 21 SNHI genes in autosomal recessive or dominant inheritance patterns. Conclusions: Our findings expand the understanding of the genetic landscape of SNHI in Mongolia and highlight the importance of considering population-specific variations in genetic testing and counseling for SNHI. [ABSTRACT FROM AUTHOR]

This review explored the role of mitochondria in retinal ganglion cells (RGCs), which are essential for visual processing. Mitochondrial dysfunction is a key factor in the pathogenesis of various vision-related disorders, including glaucoma, hereditary optic neuropathy, and age-related macular degeneration. This review highlighted the critical role of mitochondria in RGCs, which provide metabolic support, regulate cellular health, and respond to cellular stress while also producing reactive oxygen species (ROS) that can damage cellular components. Maintaining mitochondrial function is essential for meeting RGCs' high metabolic demands and ensuring redox homeostasis, which is crucial for their proper function and visual health. Oxidative stress, exacerbated by factors like elevated intraocular pressure and environmental factors, contributes to diseases such as glaucoma and age-related vision loss by triggering cellular damage pathways. Strategies targeting mitochondrial function or bolstering antioxidant defenses include mitochondrial-based therapies, gene therapies, and mitochondrial transplantation. These advances can offer potential strategies for addressing mitochondrial dysfunction in the retina, with implications that extend beyond ocular diseases. [ABSTRACT FROM AUTHOR]

Hearing loss is a common sensory disorder in newborns. Early intervention with assistive devices benefits children's auditory and speech performance. This study aimed to measure the health utilities of children with bilateral severe-to-profound hearing impairment with different assistive devices. The descriptions of four hypothetical health states were developed, and their utility values were obtained from healthcare professionals via the visual analogue scale (VAS) and time trade-off (TTO) methods. Thirty-seven healthcare professionals completed the TTO interview and were included in the analysis. The mean utility scores obtained via VAS were 0.31 for no assistive devices, 0.41 for bilateral hearing aids, 0.63 for bimodal hearing, and 0.82 for bilateral cochlear implants. As for the utility scores obtained via TTO, mean values were 0.60, 0.69, 0.81, and 0.90, respectively. None of the four groups had the same VAS- or TTO-elicited utility (p < 0.001). The post hoc test results showed that the difference was significant between any two groups (all p < 0.05). In conclusion, this study elicited health utility of bilateral hearing impairment with different assistive devices using the VAS and TTO methods. The utility values obtained provide critical data for future cost–utility analysis and health technology assessment. [ABSTRACT FROM AUTHOR]

Background: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS. Methods: A total of 24 patients from 21 Han‐Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations. We applied targeted next‐generation sequencing (NGS) to investigate the potential causative variants in these patients and further validated the candidate variants through Sanger sequencing. Results: We identified 19 causative variants of WS in our cohort. Of these variants, nine were novel and discovered in PAX3, SOX10, EDNRB, and MITF genes, including missense, nonsense, deletion, and splice site variants. Several patients presented with skeletal deformities, hypotonia, megacolon, and neurological disorders that were rarely seen in WS. Conclusion: This study revealed highly phenotypic variability in Taiwanese WS patients and demonstrated that targeted NGS allowed us to clarify the genetic diagnosis and extend the genetic variant spectrum of WS. [ABSTRACT FROM AUTHOR]