Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis
Wong et al. review gut microbiota biomarkers for ASD, detailing gut-brain axis mechanisms, biomarker evolution from taxonomic profiling to multi-omics and multi-kingdom integration, key translational challenges, and actionable research guidelines to boost clinical utility for ASD diagnosis and prognosis.
Oncogenic Signaling Shaped by a Golgi Trafficking Protein Pair
A new study in Science Signaling identifies a previously overlooked control point in receptor tyrosine kinase (RTK) signaling, one that operates not at the plasma membrane, but at the Golgi. The research, published as “Oncogenic receptor tyrosine kinase signaling is driven by the Golgi protein GOLPH3 and its interaction with MYO18A,” reveals that the Golgi‑localized proteins GOLPH3 and MYO18A act together to route RTKs to the cell surface, thereby setting the strength of growth‑factor signaling across multiple pathways.
The work was led by Kyle Starost and colleagues at Case Western Reserve University School of Medicine and the University of California, San Diego. Their findings help explain why GOLPH3 is frequently amplified in human cancers and why its overexpression correlates with poor prognosis across tumor types.
RTKs such as EGFR, insulin receptor, and PDGFR are central drivers of proliferation and survival in many cancers. Although RTK inhibitors are widely used clinically, resistance often emerges, underscoring the need for alternative strategies that modulate signaling upstream of the receptor. The new study identifies one such upstream node: the delivery of RTKs from the Golgi to the plasma membrane.
Using an unbiased signaling analysis, the team found that siRNA knockdown of GOLPH3 or MYO18A impaired phosphorylation of EGFR at Tyr1068 and Tyr1086, as well as downstream AKT and ERK signaling. These defects persisted even when PI3K/AKT/mTOR signaling was pharmacologically blocked, demonstrating that GOLPH3 acts directly at the receptor level rather than through mTOR modulation.
To pinpoint the mechanism, the researchers turned to trafficking assays. Imaging of endogenous EGFR showed that loss of GOLPH3 or MYO18A caused the receptor to accumulate in intracellular puncta rather than at the plasma membrane. A quantitative PDGFR‑GFP surface‑delivery assay confirmed that both proteins are required for Golgi‑to‑surface transport. Treatment with brefeldin A or golgicide A, which disrupt Golgi structure, produced similar reductions in surface receptor levels, reinforcing the conclusion that the GOLPH3–MYO18A complex is essential for RTK delivery.
Overexpression experiments completed the mechanistic picture. Increasing GOLPH3 or MYO18A levels enhanced EGF‑stimulated phosphorylation of EGFR and AKT, while a GOLPH3 mutant unable to bind PI4P failed to do so. These results position the GOLPH3–MYO18A complex as a central determinant of RTK availability at the cell surface.
The authors wrote, “The GOLPH3-MYO18A complex at the Golgi apparatus was required and rate-limiting for RTK signaling across the cell types and receptors assessed.” The findings suggest that targeting Golgi‑based trafficking machinery could offer a new therapeutic angle for tumors that rely on hyperactive RTK signaling or have developed resistance to RTK inhibitors.
The post Oncogenic Signaling Shaped by a Golgi Trafficking Protein Pair appeared first on GEN – Genetic Engineering and Biotechnology News.
Undergraduate Nursing Students’ Experiences of Individualized Digital Reminiscence Using the InspireD App in Care Home Placements: Qualitative Focus Group Study
COVID-19 Knowledge, Attitudes, and Practices and Perceived Risk: Cross-Sectional Mixed Methods Study
Background: The COVID-19 pandemic was marked by rapidly evolving and inconsistent public health messaging, contributing to confusion regarding recommended preventive behaviors. Knowledge, attitudes, and practices (KAP) and perceived risk frameworks offer a structured approach to examine how education, personal beliefs, and contextual factors influence health behaviors during public health emergencies. Vulnerable populations, such as patients with multiple sclerosis (MS), experience heightened risk perception compared with the general population, which may further shape behavioral responses. Objective: This study aimed to examine COVID-19–related KAP and perceived risk among patients with MS, health care providers, and laypeople during the first 6 months of the pandemic. The aim of mixed methods was to explore quantitative factors associated with KAP and perceived risk and to qualitatively describe participants’ perceptions and emotional responses to the pandemic. Methods: A descriptive, cross-sectional, partially mixed methods explanatory sequential design was used. Participants were recruited using convenience sampling and completed an online demographic questionnaire and a COVID-19 KAP instrument that included perceived risk items. Quantitative data were analyzed using descriptive statistics and inferential analyses to examine group differences and associations between perceived risk and preventive behaviors. Chi-square testing was applied to compare perceived risk across groups, and correlational analyses were used to examine the relationships between perceived risk and behavioral practices. Qualitative comments provided by participants were analyzed using thematic analysis to further contextualize quantitative findings and to explore perceived risk experiences. Results: A total of 148 participants were included, comprising 43 (29%) individuals with MS, 50 (33.8%) health care providers, and 55 (37.2%) laypeople. Overall, 90% (n=133) of participants demonstrated basic knowledge of COVID-19 transmission and prevention. Attitudes toward public health guidance and self-reported preventive behaviors varied across groups. Lay participants most frequently reported a moderate perceived risk of COVID-19 infection, whereas participants with MS and health care providers more commonly reported high perceived risk (²=12.65, =.049). Neither immunosuppressive treatment status nor vaccine hesitancy significantly predicted perceived risk. However, higher perceived risk was significantly associated with greater avoidance of crowded and public places. Qualitative analysis yielded 5 interrelated themes describing participants’ perceived risk experiences: uncertainty related to evolving scientific information; anxiety regarding personal and family safety; fear of infection and long-term consequences; vulnerability, particularly among individuals with chronic illness and frontline exposure; and accountability toward protecting others through adherence to preventive measures. These themes provided contextual insight into the emotional and cognitive processes underlying reported attitudes and behaviors. Conclusions: Knowledge of COVID-19 is associated with favorable attitudes and engagement in preventive practices across populations. Differences in perceived risk highlight the importance of tailoring risk communication and educational strategies to specific populations. KAP-focused educational interventions that explicitly address uncertainty, emotional responses, and behavioral translation may strengthen preparedness and promote sustained protective behaviors during future public health emergencies. Trial Registration: ClinicalTrials.gov NCT07021716; https://clinicaltrials.gov/ct2/show/NCT07021716
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Effects of an Eye-Tracking Digital Serious Game on Cognitive Function in Mild Cognitive Impairment: Pilot Intervention Study
Mobile App–Based Smoking Cessation in Hispanic or Latino Adults: Culturally Tailored Spanish-Language Formative App Development Study
Background: Despite the notable proliferation of smoking cessation mobile apps, to date, no validated, Spanish-language, culturally tailored mobile intervention exists for Spanish speakers in the United States. Objective: The aim of this study was to conduct formative research to inform the adaptation of an evidence-based smoking cessation intervention developed for Spanish-speaking Hispanic and Latino individuals from a printed format into a mobile app. Methods: Guided by a user-centered approach and in collaboration with product design industry experts, wireframes were developed to present the app’s layout and functionality. Focus groups were conducted over Zoom (Zoom Communications) with Spanish-speaking individuals who currently smoke to assess their previous mobile app experience, attitudes toward mobile apps, and feedback on app architecture and design. Two independent reviewers (RB in collaboration with another member from the qualitative core) trained in qualitative methods coded the focus group data using a thematic analysis approach and identified emerging themes. Results: The app wireframes included 4 navigation buttons on the home screen to organize and deliver evidence-based intervention content—Home (), Learn (), My Coach (), and Profile (). Different wireframe designs were generated in distinct color palettes. Data saturation was reached after three focus groups. Participants were 54% (7/13) women, had a mean age of 56 (SD 14.9) years, 39% (5/13) had an education ≤high school, and 31% (4/13) were married or cohabitating. All participants smoked daily, a mean of 14 (SD 7.8) cigarettes per day, for 32 (SD 16.9) years, and 54% (7/13) smoked ≤30 minutes of waking. Participants reported using social media, news, shopping, and gaming apps, but few used mobile health apps. Salient barriers for app use included worries regarding privacy breaches and fears about misinformation. Desired features included community-building elements, personalization, reward badges, knowledge checks, and audiovisual presentation of content within the app. Participants disliked having a countdown to quit date, preferring an “I quit” button to initiate monitoring progress. They also viewed sharing progress with support networks as a source of unwanted pressure, although a few saw it as motivational. Overall, participants liked the app design and indicated willingness to use it. Conclusions: This formative research provides critical insights into preferences related to the development of culturally tailored mobile smoking cessation interventions for Spanish-speaking individuals. Key findings highlighted enthusiasm for a smoking cessation app and the importance of including features that foster social connection and allow for personalization.
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Primary Care Physicians’ Interactions With a Novel Web-Based Active Learning Tool (The Community Fracture Capture Learning Hub): Qualitative Analysis
Background: Osteoporosis poses a significant global health burden and is responsible for over 8.9 million fragility fractures annually. Despite evidence-based guidelines and treatment, a substantial care gap persists, with only a low percentage of fracture patients receiving guideline-concordant care. Primary care physicians (PCPs) are pivotal in community-based fracture prevention but face challenges in translating knowledge into practice. While hospital-based fracture liaison services are effective, their reach is limited, necessitating scalable alternatives. Virtual communities of practice and web-based learning tools offer promising avenues for PCP professional education; however, their application in osteoporosis management remains underexplored. The Community Fracture Capture (CFC) Learning Hub was developed as an interactive, case-based platform to address these gaps by enhancing PCPs’ knowledge, confidence, and engagement in osteoporosis care. Objective: The study aimed to conduct a qualitative evaluation of PCPs’ interactions with the CFC Learning Hub, focusing on barriers and facilitators of the online learning tool and exploring PCP perceptions of the program. Methods: A qualitative analysis was performed using data from 55 PCPs across four 6-week cycles of the CFC Learning Hub (May 2022-October 2023). Data sources included discussion forum comments and responses to open-ended questions in end-of-cycle evaluations. Relational content analysis was used, with 2 researchers independently coding data using semantic and latent approaches. Themes were identified through iterative discussions and validated against existing literature. Results: Four themes emerged from PCP interactions: (1) user experience–guided platform design, where participants emphasized intuitive navigation, minimized fragmented sections, and clarity of interface as critical for engagement; (2) learning-supportive course structure, highlighting the importance of explicit links between case studies and foundational knowledge, weekly summaries, and quizzes aligned with content; (3) learners’ different styles and preferences, with diverging needs for synchronous vs asynchronous learning, didactic sessions, and peer-to-peer interactions; and (4) program content, where participants requested expanded topics and postprogram refreshers. Conclusions: The CFC Learning Hub demonstrated efficacy as a specialist- and peer-to-peer–supported online learning model for PCPs, addressing osteoporosis care gaps through user-centered design, adaptable content delivery, and collaborative moderation. Key successes included resolving usability issues iteratively and accommodating diverse learning preferences. These findings underscore the potential of the Hub to enhance primary care professional education and fracture prevention. The study advocates for broader adoption of the platform to bridge osteoporosis care disparities.
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