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Smartwatches provide health tracking in various ways and there has been a recent rise in reporting cardiac arrhythmias. While original studies focused on atrial fibrillation, fewer reports have been made on other arrhythmias especially in pregnancy. We report a pregnant patient who presented at 34 weeks' gestation with palpitations. An ECG recorded through her Apple Watch showed ventricular tachycardia. Hospital ECG confirmed monomorphic ventricular tachycardia likely caused by increased sympathetic tone from the gravid state. She was admitted to the cardiac intensive care unit for close monitoring with intravenous anti-arrhythmic agents; however, the rhythm persisted. She underwent a caesarean delivery and the arrhythmia resolved post partum. She later underwent a catheter ablation, after which she discontinued all anti-arrhythmic medications with no recurrence. This case highlights the importance of requesting relevant digital health information, if available, from patients in our modern era. Controlled clinical studies are needed to validate such practices.

Background: Venous thromboembolism (VTE) is a preventable medical condition which has substantial impact on patient morbidity, mortality, and disability. Unfortunately, adherence to the published best practices for VTE prevention, based on patient centered outcomes research (PCOR), is highly variable across U.S. hospitals, which represents a gap between current evidence and clinical practice leading to adverse patient outcomes. This gap is especially large in the case of traumatic brain injury (TBI), where reluctance to initiate VTE prevention due to concerns for potentially increasing the rates of intracranial bleeding drives poor rates of VTE prophylaxis. This is despite research which has shown early initiation of VTE prophylaxis to be safe in TBI without increased risk of delayed neurosurgical intervention or death. Clinical decision support (CDS) is an indispensable solution to close this practice gap; however, design and implementation barriers hinder CDS adoption and successful scaling across health systems. Clinical practice guidelines (CPGs) informed by PCOR evidence can be deployed using CDS systems to improve the evidence to practice gap. In the Scaling AcceptabLE cDs (SCALED) study, we will implement a VTE prevention CPG within an interoperable CDS system and evaluate both CPG effectiveness (improved clinical outcomes) and CDS implementation. Methods: The SCALED trial is a hybrid type 2 randomized stepped wedge effectiveness-implementation trial to scale the CDS across 4 heterogeneous healthcare systems. Trial outcomes will be assessed using the RE2-AIM planning and evaluation framework. Efforts will be made to ensure implementation consistency. Nonetheless, it is expected that CDS adoption will vary across each site. To assess these differences, we will evaluate implementation processes across trial sites using the Exploration, Preparation, Implementation, and Sustainment (EPIS) implementation framework (a determinant framework) using mixed-methods. Finally, it is critical that PCOR CPGs are maintained as evidence evolves. To date, an accepted process for evidence maintenance does not exist. We will pilot a "Living Guideline" process model for the VTE prevention CDS system. Discussion: The stepped wedge hybrid type 2 trial will provide evidence regarding the effectiveness of CDS based on the Berne-Norwood criteria for VTE prevention in patients with TBI. Additionally, it will provide evidence regarding a successful strategy to scale interoperable CDS systems across U.S. healthcare systems, advancing both the fields of implementation science and health informatics. Trial registration: Clinicaltrials.gov – NCT05628207. Prospectively registered 11/28/2022, https://classic.clinicaltrials.gov/ct2/show/NCT05628207. [ABSTRACT FROM AUTHOR]

Background: Despite the growing adoption of digital health tools as a means to support mental health, many individuals remain unaware of the variety of mental health resources available to them through this format. To address this knowledge gap, this study advanced the design, development, and implementation of a text-based service called SaskWell to raise awareness of evidence based mental health resources and create more immediate connections to these tools. The two primary objectives of the study were to assess and evaluate the adoption of SaskWell by focusing on user acceptance, satisfaction, and perceived benefit, and to identify factors which contributed to user engagement with the SaskWell text-based service. Both quantitative and qualitative data contributed to the final study results. Results: This study utilized a co-designed text-messaging service to provide residents of Saskatchewan an important connection to digital mental health and wellness resources during the height of the COVID-19 pandemic. Using the RE-AIM framework as an implementation guide, four distinct cycles of SaskWell were delivered with modifications to the service in each subsequent cycle based on user engagement, feedback, and the direction of a community advisory group. Quantitative data was collected through user engagement text message response data, along with enrollment and exit surveys, while semi-structured interviews served as the primary means of qualitative data collection. In addition to the quantitative user data, these user interviews resulted in themes exploring motivation to sign-up for the service, perceptions of texting as a mechanism to deliver mental health resources, the impact of SaskWell on mental health and well-being, and beliefs on the future potential of text-based mental health supports. Conclusions: Both the user engagement survey and the qualitative data supported the worth of ongoing efforts to refine and extend the use of text messaging as a means to engage citizens around the awareness and use of digital mental health and wellness resources. As the pandemic has receded into the background in many peoples' daily lives, for healthcare providers, and others who continue to be impacted more heavily by the persistent challenges of this global event, this type of service may continue to be timely. [ABSTRACT FROM AUTHOR]

Background: Governments worldwide are facing growing pressure to increase transparency, as citizens demand greater insight into decision-making processes and public spending. An example is the release of open healthcare data to researchers, as healthcare is one of the top economic sectors. Significant information systems development and computational experimentation are required to extract meaning and value from these datasets. We use a large open health dataset provided by the New York State Statewide Planning and Research Cooperative System (SPARCS) containing 2.3 million de-identified patient records. One of the fields in these records is a patient's length of stay (LoS) in a hospital, which is crucial in estimating healthcare costs and planning hospital capacity for future needs. Hence it would be very beneficial for hospitals to be able to predict the LoS early. The area of machine learning offers a potential solution, which is the focus of the current paper. Methods: We investigated multiple machine learning techniques including feature engineering, regression, and classification trees to predict the length of stay (LoS) of all the hospital procedures currently available in the dataset. Whereas many researchers focus on LoS prediction for a specific disease, a unique feature of our model is its ability to simultaneously handle 285 diagnosis codes from the Clinical Classification System (CCS). We focused on the interpretability and explainability of input features and the resulting models. We developed separate models for newborns and non-newborns. Results: The study yields promising results, demonstrating the effectiveness of machine learning in predicting LoS. The best R2 scores achieved are noteworthy: 0.82 for newborns using linear regression and 0.43 for non-newborns using catboost regression. Focusing on cardiovascular disease refines the predictive capability, achieving an improved R2 score of 0.62. The models not only demonstrate high performance but also provide understandable insights. For instance, birth-weight is employed for predicting LoS in newborns, while diagnostic-related group classification proves valuable for non-newborns. Conclusion: Our study showcases the practical utility of machine learning models in predicting LoS during patient admittance. The emphasis on interpretability ensures that the models can be easily comprehended and replicated by other researchers. Healthcare stakeholders, including providers, administrators, and patients, stand to benefit significantly. The findings offer valuable insights for cost estimation and capacity planning, contributing to the overall enhancement of healthcare management and delivery. [ABSTRACT FROM AUTHOR]

Background: As U.S. legislators are urged to combat ghost networks in behavioral health and address the provider data quality issue, it becomes important to better characterize the variation in data quality of provider directories to understand root causes and devise solutions. Therefore, this manuscript examines consistency of address, phone number, and specialty information for physician entries from 5 national health plan provider directories by insurer, physician specialty, and state. Methods: We included all physicians in the Medicare Provider Enrollment, Chain, and Ownership System (PECOS) found in ≥ 2 health insurer physician directories across 5 large national U.S. health insurers. We examined variation in consistency of address, phone number, and specialty information among physicians by insurer, physician specialty, and state. Results: Of 634,914 unique physicians in the PECOS database, 449,282 were found in ≥ 2 directories and included in our sample. Across insurers, consistency of address information varied from 16.5 to 27.9%, consistency of phone number information varied from 16.0 to 27.4%, and consistency of specialty information varied from 64.2 to 68.0%. General practice, family medicine, plastic surgery, and dermatology physicians had the highest consistency of addresses (37-42%) and phone numbers (37-43%), whereas anesthesiology, nuclear medicine, radiology, and emergency medicine had the lowest consistency of addresses (11-21%) and phone numbers (9-14%) across health insurer directories. There was marked variation in consistency of address, phone number, and specialty information by state. Conclusions: In evaluating a large national sample of U.S. physicians, we found minimal variation in provider directory consistency by insurer, suggesting that this is a systemic problem that insurers have not solved, and considerable variation by physician specialty with higher quality data among more patient-facing specialties, suggesting that physicians may respond to incentives to improve data quality. These data highlight the importance of novel policy solutions that leverage technology targeting data quality to centralize provider directories so as not to not reinforce existing data quality issues or policy solutions to create national and state-level standards that target both insurers and physician groups to maximize quality of provider information. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to comprehensively assess the field of health informatics and its subdomains, addressing a gap in the literature. The primary objective is to provide insights into the integration of expertise from various disciplines and explore the impact of emerging technologies, such as artificial intelligence, machine learning, robotic process automation, and virtual reality on healthcare processes. The research question queries the current status of health informatics and how the latest technological developments affect health informatics and its subfields. Method: Conducted through an extensive literature review, this research explores medical informatics, nursing informatics, pharmacy informatics, dentistry informatics, biomedical informatics, bioinformatics, public health informatics, clinical informatics, and primary care informatics. Results: Findings highlight a comprehensive understanding of health informatics and its subdomains, emphasizing the interdisciplinary integration of expertise. The study also reveals the significant impact of new and hype technologies on various health informatics domains. Conclusions: Filling a literature gap, this study provides valuable insights into the current state of health informatics. It underscores the interdisciplinary nature of the field and emphasizes the profound influence of emerging technologies on the evolving landscape of health informatics. The study thoroughly examines nine specific informatics fields within health informatics, revealing that recent years have seen a collective influence of artificial intelligence, deep learning, and machine learning across these domainsThe findings strongly suggest that courses on these emerging current technologies be integrated into undergraduate curricula within health informatics education. [ABSTRACT FROM AUTHOR]

Background: This study has two primary objectives. Firstly, it aims to measure the time savings achieved through the digitization of paper forms filled out by nurses in the inpatient care process. Secondly, it seeks to reveal the financial savings resulting from reduced paper consumption due to the digitalization. The Health Information Management System Society (HIMSS)--Electronic Medical Record Adaption Model (EMRAM), which makes stage-based (0--7) evaluations, serves as a tool to measure the rate of technology utilization in public hospitals in Turkey. The study is based on the HIMSS EMRAM criteria for 2018. Bahçelievler State Hospital, a public hospital in Turkey, was chosen as the research facility. In 2017, it was accredited as Stage 6 with HIMSS EMRAM. However, not all its wards have been digitalized. Initially, pilot selected wards were digitized. Therefore, digital and non-digital wards serve together. In this context, 4 wards were randomly selected and time, paper and toner savings before and after digitalization were measured. Method: A table was created in Microsoft Excel,listing the forms used by nurses in inpatient care and the time required to fill them out.The time spent for filling paper-based forms and digital-based forms was measured in randomly selected wards. Result: The analysis showed that digital forms saved more time, paper and toner. For example, filling out the patient history form took 45 min when using paper, compared to 12 min in digital environment. Approximately 27% time savings are achieved only for the patient history form. The total time savings delivered by digitalization for 1,153 inpatients during the year were found as 117 care days, and the savings on total paper consumption was 41.289 pages. For 1,153 inpatients throughout the year, the total time savings from digitalization was 117 care days and the total paper consumption savings was 41,289 pages. In addition, in 4 wards with a total bed capacity of 25, annual paper savings of $1,705.86 and toner savings of $283,736 were achieved. Discussion: This study reveals the benefits of digitalisation in hospitals for nurses. It saves the time that nurses allocate for filling out paper forms with digitalised forms. Thus, it is a good practice example in terms of using the time allocated for form filling for patient care.When we extend this study to Turkey in general, it can be considered that the time savings achieved by nurses by digitizing inpatient forms varies between 10.8% and 13%. The number of nurses working in public hospitals in Turkey is approximately 160,000. Assuming that 60% of the nurses work in the inpatient ward, it is understood that the annual savings achieved by digitizing the forms corresponds to a range of 398--559 nursing hours. [ABSTRACT FROM AUTHOR]

Background: Consider a setting where multiple parties holding sensitive data aim to collaboratively learn population level statistics, but pooling the sensitive data sets is not possible due to privacy concerns and parties are unable to engage in centrally coordinated joint computation. We study the feasibility of combining privacy preserving synthetic data sets in place of the original data for collaborative learning on real-world health data from the UK Biobank. Methods: We perform an empirical evaluation based on an existing prospective cohort study from the literature. Multiple parties were simulated by splitting the UK Biobank cohort along assessment centers, for which we generate synthetic data using differentially private generative modelling techniques. We then apply the original study's Poisson regression analysis on the combined synthetic data sets and evaluate the effects of 1) the size of local data set, 2) the number of participating parties, and 3) local shifts in distributions, on the obtained likelihood scores. Results: We discover that parties engaging in the collaborative learning via shared synthetic data obtain more accurate estimates of the regression parameters compared to using only their local data. This finding extends to the difficult case of small heterogeneous data sets. Furthermore, the more parties participate, the larger and more consistent the improvements become up to a certain limit. Finally, we find that data sharing can especially help parties whose data contain underrepresented groups to perform better-adjusted analysis for said groups. Conclusions: Based on our results we conclude that sharing of synthetic data is a viable method for enabling learning from sensitive data without violating privacy constraints even if individual data sets are small or do not represent the overall population well. Lack of access to distributed sensitive data is often a bottleneck in biomedical research, which our study shows can be alleviated with privacy-preserving collaborative learning methods. [ABSTRACT FROM AUTHOR]

Background: Internet-based interventions produce comparable effectiveness rates as face-to-face therapy in treating depression. Still, more than half of patients do not respond to treatment. Machine learning (ML) methods could help to overcome these low response rates by predicting therapy outcomes on an individual level and tailoring treatment accordingly. Few studies implemented ML algorithms in internet-based depression treatment using baseline self-report data, but differing results hinder inferences on clinical practicability. This work compares algorithms using features gathered at baseline or early in treatment in their capability to predict non-response to a 6-week online program targeting depression. Methods: Our training and test sample encompassed 1270 and 318 individuals, respectively. We trained random forest algorithms on self-report and process features gathered at baseline and after 2 weeks of treatment. Non-responders were defined as participants not fulfilling the criteria for reliable and clinically significant change on PHQ-9 post-treatment. Our benchmark models were logistic regressions trained on baseline PHQ-9 sum or PHQ-9 early change, using 100 iterations of randomly sampled 80/20 train-test-splits. Results: Best performances were reached by our models involving early treatment characteristics (recall: 0.75–0.76; AUC: 0.71–0.77). Therapeutic alliance and early symptom change constituted the most important predictors. Models trained on baseline data were not significantly better than our benchmark. Conclusions: Fair accuracies were only attainable by involving information from early treatment stages. In-treatment adaptation, instead of a priori selection, might constitute a more feasible approach for improving response when relying on easily accessible self-report features. Implementation trials are needed to determine clinical usefulness. [ABSTRACT FROM AUTHOR]

Metaverse technology is an advanced form of virtual reality and augmented technologies. It merges the digital world with the real world, thus benefitting healthcare services. Medical informatics is promising in the metaverse. Despite the increasing adoption of the metaverse in commercial applications, a considerable research gap remains in the academic domain, which hinders the comprehensive delineation of research prospects for the metaverse in healthcare. This study employs text-mining methods to investigate the prevalence and trends of the metaverse in healthcare; in particular, more than 34,000 academic articles and news reports are analyzed. Subsequently, the topic prevalence, similarity, and correlation are measured using topic-modeling methods. Based on bibliometric analysis, this study proposes a theoretical framework from the perspectives of knowledge, socialization, digitization, and intelligence. This study provides insights into its application in healthcare via an extensive literature review. The key to promoting the metaverse in healthcare is to perform technological upgrades in computer science, telecommunications, healthcare services, and computational biology. Digitization, virtualization, and hyperconnectivity technologies are crucial in advancing healthcare systems. Realizing their full potential necessitates collective support and concerted effort toward the transformation of relevant service providers, the establishment of a digital economy value system, and the reshaping of social governance and health concepts. The results elucidate the current state of research and offer guidance for the advancement of the metaverse in healthcare. [ABSTRACT FROM AUTHOR]

A significant increase in the demand for quality healthcare has resulted from people becoming more aware of health issues. With blockchain, healthcare providers may safely share patient information electronically, which is especially important given the sensitive nature of the data contained inside them. However, flaws in the current blockchain design have surfaced since the dawn of quantum computing systems. The study proposes a novel quantum-inspired blockchain system (Qchain) and constructs a unique entangled quantum medical record (EQMR) system with an emphasis on privacy and security. This Qchain relies on entangled states to connect its blocks. The automated production of the chronology indicator reduces storage capacity requirements by connecting entangled BloQ (blocks with quantum properties) to controlled activities. We use one qubit to store the hash value of each block. A lot of information regarding the quantum internet is included in the protocol for the entangled quantum medical record (EQMR). The EQMR can be accessed in Medical Internet of Things (M-IoT) systems that are kept private and secure, and their whereabouts can be monitored in the event of an emergency. The protocol also uses quantum authentication in place of more conventional methods like encryption and digital signatures. Mathematical research shows that the quantum converged blockchain (QCB) is highly safe against attacks such as external attacks, intercept measure -repeat attacks, and entanglement measure attacks. We present the reliability and auditability evaluations of the entangled BloQ, along with the quantum circuit design for computing the hash value. There is also a comparison between the suggested approach and several other quantum blockchain designs. [ABSTRACT FROM AUTHOR]

Abstract Background Despite the growing adoption of digital health tools as a means to support mental health, many individuals remain unaware of the variety of mental health resources available to them through this format. To address this knowledge gap, this study advanced the design, development, and implementation of a text-based service called SaskWell to raise awareness of evidence based mental health resources and create more immediate connections to these tools. The two primary objectives of the study were to assess and evaluate the adoption of SaskWell by focusing on user acceptance, satisfaction, and perceived benefit, and to identify factors which contributed to user engagement with the SaskWell text-based service. Both quantitative and qualitative data contributed to the final study results. Results This study utilized a co-designed text-messaging service to provide residents of Saskatchewan an important connection to digital mental health and wellness resources during the height of the COVID-19 pandemic. Using the RE-AIM framework as an implementation guide, four distinct cycles of SaskWell were delivered with modifications to the service in each subsequent cycle based on user engagement, feedback, and the direction of a community advisory group. Quantitative data was collected through user engagement text message response data, along with enrollment and exit surveys, while semi-structured interviews served as the primary means of qualitative data collection. In addition to the quantitative user data, these user interviews resulted in themes exploring motivation to sign-up for the service, perceptions of texting as a mechanism to deliver mental health resources, the impact of SaskWell on mental health and well-being, and beliefs on the future potential of text-based mental health supports. Conclusions Both the user engagement survey and the qualitative data supported the worth of ongoing efforts to refine and extend the use of text messaging as a means to engage citizens around the awareness and use of digital mental health and wellness resources. As the pandemic has receded into the background in many peoples’ daily lives, for healthcare providers, and others who continue to be impacted more heavily by the persistent challenges of this global event, this type of service may continue to be timely.

Abstract Background Governments worldwide are facing growing pressure to increase transparency, as citizens demand greater insight into decision-making processes and public spending. An example is the release of open healthcare data to researchers, as healthcare is one of the top economic sectors. Significant information systems development and computational experimentation are required to extract meaning and value from these datasets. We use a large open health dataset provided by the New York State Statewide Planning and Research Cooperative System (SPARCS) containing 2.3 million de-identified patient records. One of the fields in these records is a patient’s length of stay (LoS) in a hospital, which is crucial in estimating healthcare costs and planning hospital capacity for future needs. Hence it would be very beneficial for hospitals to be able to predict the LoS early. The area of machine learning offers a potential solution, which is the focus of the current paper. Methods We investigated multiple machine learning techniques including feature engineering, regression, and classification trees to predict the length of stay (LoS) of all the hospital procedures currently available in the dataset. Whereas many researchers focus on LoS prediction for a specific disease, a unique feature of our model is its ability to simultaneously handle 285 diagnosis codes from the Clinical Classification System (CCS). We focused on the interpretability and explainability of input features and the resulting models. We developed separate models for newborns and non-newborns. Results The study yields promising results, demonstrating the effectiveness of machine learning in predicting LoS. The best R2 scores achieved are noteworthy: 0.82 for newborns using linear regression and 0.43 for non-newborns using catboost regression. Focusing on cardiovascular disease refines the predictive capability, achieving an improved R2 score of 0.62. The models not only demonstrate high performance but also provide understandable insights. For instance, birth-weight is employed for predicting LoS in newborns, while diagnostic-related group classification proves valuable for non-newborns. Conclusion Our study showcases the practical utility of machine learning models in predicting LoS during patient admittance. The emphasis on interpretability ensures that the models can be easily comprehended and replicated by other researchers. Healthcare stakeholders, including providers, administrators, and patients, stand to benefit significantly. The findings offer valuable insights for cost estimation and capacity planning, contributing to the overall enhancement of healthcare management and delivery.

Abstract Background As U.S. legislators are urged to combat ghost networks in behavioral health and address the provider data quality issue, it becomes important to better characterize the variation in data quality of provider directories to understand root causes and devise solutions. Therefore, this manuscript examines consistency of address, phone number, and specialty information for physician entries from 5 national health plan provider directories by insurer, physician specialty, and state. Methods We included all physicians in the Medicare Provider Enrollment, Chain, and Ownership System (PECOS) found in ≥ 2 health insurer physician directories across 5 large national U.S. health insurers. We examined variation in consistency of address, phone number, and specialty information among physicians by insurer, physician specialty, and state. Results Of 634,914 unique physicians in the PECOS database, 449,282 were found in ≥ 2 directories and included in our sample. Across insurers, consistency of address information varied from 16.5 to 27.9%, consistency of phone number information varied from 16.0 to 27.4%, and consistency of specialty information varied from 64.2 to 68.0%. General practice, family medicine, plastic surgery, and dermatology physicians had the highest consistency of addresses (37-42%) and phone numbers (37-43%), whereas anesthesiology, nuclear medicine, radiology, and emergency medicine had the lowest consistency of addresses (11-21%) and phone numbers (9-14%) across health insurer directories. There was marked variation in consistency of address, phone number, and specialty information by state. Conclusions In evaluating a large national sample of U.S. physicians, we found minimal variation in provider directory consistency by insurer, suggesting that this is a systemic problem that insurers have not solved, and considerable variation by physician specialty with higher quality data among more patient-facing specialties, suggesting that physicians may respond to incentives to improve data quality. These data highlight the importance of novel policy solutions that leverage technology targeting data quality to centralize provider directories so as not to not reinforce existing data quality issues or policy solutions to create national and state-level standards that target both insurers and physician groups to maximize quality of provider information.

Background: As healthcare increasingly integrates digital technologies, it is crucial to ensure that medical professionals possess robust digital competencies to maximize the benefits of these technologies. Mastering fundamental digital skills is essential before engaging with more complex digital health technologies. This study aimed to assess the general digital competencies of doctors in Chișinău, Moldova, and to identify specific areas needing improvement, thereby providing a foundation for tailored educational programs. Materials and Methods: In April 2024, data were collected using the My DigiSkills tool, a self-assessment online questionnaire developed under the European Commission's DigCompSAT project by ALL DIGITAL. This cross-sectional study involved resident doctors and specialists and from various medical institutions in Chișinău, who self-assessed their digital competence levels across five areas: Information and Data Literacy, Communication and Collaboration, Digital Content Creation, Safety, and Problem Solving. Upon completing the questionnaire, participants received their results via email and subsequently forwarded the results to the researchers. Results: The study revealed that over 50% of doctors in Chișinău demonstrated advanced skills in information and data literacy and communication. However, significant deficiencies were found in digital safety, with only 19% showing advanced skills in this area. Younger doctors generally exhibited higher digital competence levels. The results highlight the urgent need for customized training initiatives to address these gaps and enhance digital competencies among medical professionals. Conclusions: The study underscores the necessity for tailored educational programs to improve digital competencies, particularly in digital safety, because data privacy and security are paramount in the medical context.

Abstract Background Consider a setting where multiple parties holding sensitive data aim to collaboratively learn population level statistics, but pooling the sensitive data sets is not possible due to privacy concerns and parties are unable to engage in centrally coordinated joint computation. We study the feasibility of combining privacy preserving synthetic data sets in place of the original data for collaborative learning on real-world health data from the UK Biobank. Methods We perform an empirical evaluation based on an existing prospective cohort study from the literature. Multiple parties were simulated by splitting the UK Biobank cohort along assessment centers, for which we generate synthetic data using differentially private generative modelling techniques. We then apply the original study’s Poisson regression analysis on the combined synthetic data sets and evaluate the effects of 1) the size of local data set, 2) the number of participating parties, and 3) local shifts in distributions, on the obtained likelihood scores. Results We discover that parties engaging in the collaborative learning via shared synthetic data obtain more accurate estimates of the regression parameters compared to using only their local data. This finding extends to the difficult case of small heterogeneous data sets. Furthermore, the more parties participate, the larger and more consistent the improvements become up to a certain limit. Finally, we find that data sharing can especially help parties whose data contain underrepresented groups to perform better-adjusted analysis for said groups. Conclusions Based on our results we conclude that sharing of synthetic data is a viable method for enabling learning from sensitive data without violating privacy constraints even if individual data sets are small or do not represent the overall population well. Lack of access to distributed sensitive data is often a bottleneck in biomedical research, which our study shows can be alleviated with privacy-preserving collaborative learning methods.

Various hospitals have adopted digital technologies in the healthcare sector for various healthcare-related applications. Due to the effect of the Covid-19 pandemic, digital transformation has taken place in many domains, especially in the healthcare domain; it has streamlined various healthcare activities. With the advancement in technology concept of telemedicine evolved over the years and led to personalized healthcare and drug discovery. The use of machine learning (ML) technique in healthcare enables healthcare professionals to make a more accurate and early diagnosis. Training these ML models requires a massive amount of data, including patients' personal data, that need to be protected from unethical use. Sharing these data to train ML models may violate data privacy. A distributed ML paradigm called federated learning (FL) has allowed different medical research institutions, hospitals, and healthcare devices to train ML models without sharing raw data. This survey paper overviews existing research work on FL-related use cases and applications. This paper also discusses the state-of-the-art tools and techniques available for FL research, current shortcomings, and future challenges in using FL in healthcare. [ABSTRACT FROM AUTHOR]

As Internet-based technology spreads to most areas of life, it becomes a challenge to grasp opportunities arising from enormous amounts of data being generated from various sources such as smart homes, smart cities, health care systems and industries. Efficient utilization of these data can enable us to improve many human practices, including those connected to health care. In the present study, we focus on the health care sector, as it consists of large-scale organizations that rely on the processing of big data and complex processing of information. Due to the dynamic nature and complexity of this domain, it is essential to develop sophisticated technologies for the efficient processing of vast amounts of information. There is, for example, a need for interactive tools that can visualise actual care processes being executed in the hospital. A tool visualising real-time data could give a dynamic view of the processes, with accurate quantitative information, which can be used to improve the quality and efficiency of health care provision. These tools should be built on the requirements of practitioners needs and requirements, to ensure their relevance and practical utility. In this paper, we present a user-driven design process for developing therapy data visualisation components of guided Internet-based cognitive behaviour therapy (iCBT) and their evaluation. In order to ensure the reusability of the visual components, we propose to utilise a model-based approach which allows data analysts to adapt domain models by means of model transformation and transform them into visualization. [ABSTRACT FROM AUTHOR]

Abstract Background The use of artificial intelligence in the field of health sciences is becoming widespread. It is known that patients benefit from artificial intelligence applications on various health issues, especially after the pandemic period. One of the most important issues in this regard is the accuracy of the information provided by artificial intelligence applications. Objective The purpose of this study was to the frequently asked questions about dental amalgam, as determined by the United States Food and Drug Administration (FDA), which is one of these information resources, to Chat Generative Pre-trained Transformer version 4 (ChatGPT-4) and to compare the content of the answers given by the application with the answers of the FDA. Methods The questions were directed to ChatGPT-4 on May 8th and May 16th, 2023, and the responses were recorded and compared at the word and meaning levels using ChatGPT. The answers from the FDA webpage were also recorded. The responses were compared for content similarity in “Main Idea”, “Quality Analysis”, “Common Ideas”, and “Inconsistent Ideas” between ChatGPT-4’s responses and FDA’s responses. Results ChatGPT-4 provided similar responses at one-week intervals. In comparison with FDA guidance, it provided answers with similar information content to frequently asked questions. However, although there were some similarities in the general aspects of the recommendation regarding amalgam removal in the question, the two texts are not the same, and they offered different perspectives on the replacement of fillings. Conclusions The findings of this study indicate that ChatGPT-4, an artificial intelligence based application, encompasses current and accurate information regarding dental amalgam and its removal, providing it to individuals seeking access to such information. Nevertheless, we believe that numerous studies are required to assess the validity and reliability of ChatGPT-4 across diverse subjects.

Abstract Prognosticating Amyotrophic Lateral Sclerosis (ALS) presents a formidable challenge due to patients exhibiting different onset sites, progression rates, and survival times. In this study, we have developed and evaluated Machine Learning (ML) algorithms that integrate Ensemble and Imbalance Learning techniques to classify patients into Short and Non-Short survival groups based on data collected during diagnosis. We aimed to identify individuals at high risk of mortality within 24 months of symptom onset through analysis of patient data commonly encountered in daily clinical practice. Our Ensemble-Imbalance approach underwent evaluation employing six ML algorithms as base classifiers. Remarkably, our results outperformed those of individual algorithms, achieving a Balanced Accuracy of 88% and a Sensitivity of 96%. Additionally, we used the Shapley Additive Explanations framework to elucidate the decision-making process of the top-performing model, pinpointing the most important features and their correlations with the target prediction. Furthermore, we presented helpful tools to visualize and compare patient similarities, offering valuable insights. Confirming the obtained results, our approach could aid physicians in devising personalized treatment plans at the time of diagnosis or serve as an inclusion/exclusion criterion in clinical trials.

Abstract Background As the healthcare sector becomes increasingly reliant on technology, it is crucial for universities to offer bachelor’s degrees in health informatics (HI). HI professionals bridge the gap between IT and healthcare, ensuring that technology complements patient care and clinical workflows; they promote enhanced patient outcomes, support clinical research, and uphold data security and privacy standards. This study aims to evaluate accredited HI academic programs in Saudi Arabia. Methods This study employed a quantitative, descriptive, cross-sectional design utilising a self-reported electronic questionnaire consisting of predetermined items and response alternatives. Probability-stratified random sampling was also performed. Result The responses rates were 39% (n = 241) for students and 62% (n = 53) for faculty members. While the participants expressed different opinions regarding the eight variables being examined, the faculty members and students generally exhibited a strong level of consensus on many variables. A notable association was observed between facilities and various other characteristics, including student engagement, research activities, admission processes, and curriculum. Similarly, a notable correlation exists between student engagement and the curriculum in connection to research, attrition, the function of faculty members, and academic outcomes. Conclusion While faculty members and students hold similar views about the institution and its offerings, certain areas of divergence highlight the distinct perspectives and priorities of each group. The perception disparity between students and faculty in areas such as admission, faculty roles, and internships sheds light on areas of improvement and alignment for universities.

Background: The use of artificial intelligence in the field of health sciences is becoming widespread. It is known that patients benefit from artificial intelligence applications on various health issues, especially after the pandemic period. One of the most important issues in this regard is the accuracy of the information provided by artificial intelligence applications. Objective: The purpose of this study was to the frequently asked questions about dental amalgam, as determined by the United States Food and Drug Administration (FDA), which is one of these information resources, to Chat Generative Pre-trained Transformer version 4 (ChatGPT-4) and to compare the content of the answers given by the application with the answers of the FDA. Methods: The questions were directed to ChatGPT-4 on May 8th and May 16th, 2023, and the responses were recorded and compared at the word and meaning levels using ChatGPT. The answers from the FDA webpage were also recorded. The responses were compared for content similarity in "Main Idea", "Quality Analysis", "Common Ideas", and "Inconsistent Ideas" between ChatGPT-4's responses and FDA's responses. Results: ChatGPT-4 provided similar responses at one-week intervals. In comparison with FDA guidance, it provided answers with similar information content to frequently asked questions. However, although there were some similarities in the general aspects of the recommendation regarding amalgam removal in the question, the two texts are not the same, and they offered different perspectives on the replacement of fillings. Conclusions: The findings of this study indicate that ChatGPT-4, an artificial intelligence based application, encompasses current and accurate information regarding dental amalgam and its removal, providing it to individuals seeking access to such information. Nevertheless, we believe that numerous studies are required to assess the validity and reliability of ChatGPT-4 across diverse subjects. [ABSTRACT FROM AUTHOR]

Background: Health Data Science (HDS) is a novel interdisciplinary field that integrates biological, clinical, and computational sciences with the aim of analysing clinical and biological data through the utilisation of computational methods. Training healthcare specialists who are knowledgeable in both health and data sciences is highly required, important, and challenging. Therefore, it is essential to analyse students' learning experiences through artificial intelligence techniques in order to provide both teachers and learners with insights about effective learning strategies and to improve existing HDS course designs. Methods: We applied artificial intelligence methods to uncover learning tactics and strategies employed by students in an HDS massive open online course with over 3,000 students enrolled. We also used statistical tests to explore students' engagement with different resources (such as reading materials and lecture videos) and their level of engagement with various HDS topics. Results: We found that students in HDS employed four learning tactics, such as actively connecting new information to their prior knowledge, taking assessments and practising programming to evaluate their understanding, collaborating with their classmates, and repeating information to memorise. Based on the employed tactics, we also found three types of learning strategies, including low engagement (Surface learners), moderate engagement (Strategic learners), and high engagement (Deep learners), which are in line with well-known educational theories. The results indicate that successful students allocate more time to practical topics, such as projects and discussions, make connections among concepts, and employ peer learning. Conclusions: We applied artificial intelligence techniques to provide new insights into HDS education. Based on the findings, we provide pedagogical suggestions not only for course designers but also for teachers and learners that have the potential to improve the learning experience of HDS students. [ABSTRACT FROM AUTHOR]

Social media has become more popular in the last few years. It has been used in public health development and healthcare settings to promote healthier lifestyles. Given its important role in today's culture, it is necessary to understand its current trends and future directions in public health. This review aims to describe and summarize how public health professionals have been using social media to improve population outcomes. This review highlights the substantial influence of social media in advancing public health objectives. The key themes explored encompass the utilization of social media to advance health initiatives, monitor diseases, track behaviors, and interact with communities. Additionally, it discusses potential future directions on how social media can be used to improve population health. The findings show how social media has been used as a tool for research, implementing health campaigns, and health promotion. Social media integration with artificial intelligence (AI) and Generative Pre-Trained Transformers (GPTs) can impact and offer an innovative approach to tackle the problems and difficulties in health informatics. The research shows how social media will keep growing and evolving and, if used effectively, has the potential to help close public health gaps across different cultures and improve population health. [ABSTRACT FROM AUTHOR]

Social media (SM) based surveillance systems, combined with machine learning (ML) and deep learning (DL) techniques, have shown potential for early detection of epidemic outbreaks. This review discusses the current state of SM-based surveillance methods for early epidemic outbreaks and the role of ML and DL in enhancing their performance. Since, every year, a large amount of data related to epidemic outbreaks, particularly Twitter data is generated by SM. This paper outlines the theme of SM analysis for tracking health-related issues and detecting epidemic outbreaks in SM, along with the ML and DL techniques that have been configured for the detection of epidemic outbreaks. DL has emerged as a promising ML technique that adapts multiple layers of representations or features of the data and yields state-of-the-art extrapolation results. In recent years, along with the success of ML and DL in many other application domains, both ML and DL are also popularly used in SM analysis. This paper aims to provide an overview of epidemic outbreaks in SM and then outlines a comprehensive analysis of ML and DL approaches and their existing applications in SM analysis. Finally, this review serves the purpose of offering suggestions, ideas, and proposals, along with highlighting the ongoing challenges in the field of early outbreak detection that still need to be addressed. [ABSTRACT FROM AUTHOR]

Ontologies serve as comprehensive frameworks for organizing domain-specific knowledge, offering significant benefits for managing clinical data. This study presents the development of the Fall Risk Management Ontology (FRMO), designed to enhance clinical text mining, facilitate integration and interoperability between disparate data sources, and streamline clinical data analysis. By representing major entities within the fall risk management domain, the FRMO supports the unification of clinical language and decision-making processes, ultimately contributing to the prevention of falls among older adults. We used Ontology Web Language (OWL) to build the FRMO in Protégé. Of the seven steps of the Stanford approach, six steps were utilized in the development of the FRMO: (1) defining the domain and scope of the ontology, (2) reusing existing ontologies when possible, (3) enumerating ontology terms, (4) specifying the classes and their hierarchy, (5) defining the properties of the classes, and (6) defining the facets of the properties. We evaluated the FRMO using four main criteria: consistency, completeness, accuracy, and clarity. The developed ontology comprises 890 classes arranged in a hierarchical structure, including six top-level classes with a total of 43 object properties and 28 data properties. FRMO is the first comprehensively described semantic ontology for fall risk management. Healthcare providers can use the ontology as the basis of clinical decision technology for managing falls among older adults. [ABSTRACT FROM AUTHOR]

AbstractPurposeMaterials and methodsResultsConclusion(s)\nIMPLICATIONS FOR REHABILITATIONTo examine (1) how much participation is represented in the benchmark Unified Medical Language System (UMLS) resource, and (2) to what extent that representation reflects the definition of child and youth participation and/or its related constructs per the family of Participation-Related Constructs framework.We searched and analysed UMLS concepts related to the term “participation.” Identified UMLS concepts were rated according to their representation of participation (i.e., attendance, involvement, both) as well as participation-related constructs using deductive content analysis.363 UMLS concepts were identified. Of those, 68 had at least one English definition, resulting in 81 definitions that were further analysed. Results revealed 2 definitions (2/81; 3%; 2/68 UMLS concepts) representing participation “attendance” and 18 definitions (18/81; 22%; 14/68 UMLS concepts) representing participation “involvement.” No UMLS concept definition represented both attendance and involvement (i.e., participation). Most of the definitions (11/20; 55%; 9/16 UMLS concepts) representing attendance or involvement also represent a participation-related construct.The representation of participation within the UMLS is limited and poorly aligned with the contemporary definition of child and youth participation. Expanding ontological resources to represent child and youth participation is needed to enable better data analytics that reflect contemporary paediatric rehabilitation practice.The representation of participation within the Unified Medical Language System (UMLS) is limited and poorly aligned with the contemporary definition of child and youth participation.From a contemporary paediatric rehabilitation perspective, using the current UMLS concepts for data analytics might result in misrepresentation of child and youth participation.There is need to expand ontological resources within the UMLS to fully and exclusively represent participation dimensions (attendance and involvement) in daily life activities to enable better data analytics that reflect contemporary paediatric rehabilitation practice.The representation of participation within the Unified Medical Language System (UMLS) is limited and poorly aligned with the contemporary definition of child and youth participation.From a contemporary paediatric rehabilitation perspective, using the current UMLS concepts for data analytics might result in misrepresentation of child and youth participation.There is need to expand ontological resources within the UMLS to fully and exclusively represent participation dimensions (attendance and involvement) in daily life activities to enable better data analytics that reflect contemporary paediatric rehabilitation practice. [ABSTRACT FROM AUTHOR]

Background: As healthcare increasingly integrates digital technologies, it is crucial to ensure that medical professionals possess robust digital competencies to maximize the benefits of these technologies. Mastering fundamental digital skills is essential before engaging with more complex digital health technologies. This study aimed to assess the general digital competencies of doctors in Chișinău, Moldova, and to identify specific areas needing improvement, thereby providing a foundation for tailored educational programs. Materials and Methods: In April 2024, data were collected using the My DigiSkills tool, a self-assessment online questionnaire developed under the European Commission's DigCompSAT project by ALL DIGITAL. This cross-sectional study involved resident doctors and specialists and from various medical institutions in Chișinău, who self-assessed their digital competence levels across five areas: Information and Data Literacy, Communication and Collaboration, Digital Content Creation, Safety, and Problem Solving. Upon completing the questionnaire, participants received their results via email and subsequently forwarded the results to the researchers. Results: The study revealed that over 50% of doctors in Chișinău demonstrated advanced skills in information and data literacy and communication. However, significant deficiencies were found in digital safety, with only 19% showing advanced skills in this area. Younger doctors generally exhibited higher digital competence levels. The results highlight the urgent need for customized training initiatives to address these gaps and enhance digital competencies among medical professionals. Conclusions: The study underscores the necessity for tailored educational programs to improve digital competencies, particularly in digital safety, because data privacy and security are paramount in the medical context. [ABSTRACT FROM AUTHOR]

Background: Medication dosing calculation errors can cause significant harm to patients, especially in the pediatric population. Crushing tablets for dose division purposes may increase the risk of calculation errors, which can lead to incorrect dosing and compromised patient safety. This study aimed to develop a calculator to eliminate calculation errors associated with dose division. Methods: Using the Wix platform, a group of pharmacists created a user-friendly webpage "Dose 4 You." To enable accurate dose division calculations, the advanced language model Chat GPT and Visual Studio were used. The tool assists healthcare professionals through a step-by-step process, allowing them to enter the necessary dose and medication requirements. The Dose 4 You web page's reliability and feasibility were assessed using retrospective data and validated questionnaires, including the System Usability Scale (SUS), respectively and a Likert scale-based acceptance questionnaire. Results: The Dose 4 You website calculated the required amount of powdered tablet to achieve the desired dose with 100% accuracy. The obtained SUS score was 88.38, indicating excellent usability. The average score of all questions for acceptance was found to be 4.7 ± 0.15 indicating a strong agreement on the tool's usefulness and effectiveness. Conclusion: Dose 4 You is a reliable tool that improves patient safety by streamlining dose calculations and lowering calculation errors. The tool's ease of use, practicality in daily clinical practice, and potential to reduce medication errors are highlighted by the positive perception among healthcare professionals. Dose 4 You's successful implementation demonstrates the power of technology and collaboration in transforming medication administration and improving patient outcomes. Similar innovative solutions to optimize healthcare practices can be explored in future health informatics endeavors. [ABSTRACT FROM AUTHOR]

In response to challenges associated with extensive documentation practices within the NHS, this paper presents the outcomes of a structured brainstorming session as part of the Chief Nurse Fellows project titled 'Digital Documentation in Healthcare: Empowering Nurses and Patients for Optimal Care." Grounded in Dr. Rozzano Locsin's theory of "Technological Competency as Caring in Nursing," this project leverages a Venn diagram framework to integrate Digital Maturity Assessment (DMA) results with the "What Good Looks Like" (WGLL) Framework, the ANCC Pathway to Excellence, and the eHospital EPR program vision of University Hospitals of Leicester NHS Trust. Participants, including Clinical IT facilitators and nursing leaders, engaged in identifying synergies and gaps across digital proficiency, nursing excellence, and patient-centric care, contributing actionable insights towards an optimized digital patient care model. The findings emphasize the need for holistic digital solutions that enhance documentation efficiency, support staff excellence, and improve patient outcomes. [ABSTRACT FROM AUTHOR]

Background: Identification of patients at risk for type 2 diabetes mellitus (T2DM) can not only prevent complications and reduce suffering but also ease the health care burden. While routine physical examination can provide useful information for diagnosis, manual exploration of routine physical examination records is not feasible due to the high prevalence of T2DM. Objectives: We aim to build interpretable machine learning models for T2DM diagnosis and uncover important diagnostic indicators from physical examination, including age- and sex-related indicators. Methods: In this study, we present three weighted diversity density (WDD)-based algorithms for T2DM screening that use physical examination indicators, the algorithms are highly transparent and interpretable, two of which are missing value tolerant algorithms. Patients: Regarding the dataset, we collected 43 physical examination indicator data from 11,071 cases of T2DM patients and 126,622 healthy controls at the Affiliated Hospital of Southwest Medical University. After data processing, we used a data matrix containing 16004 EHRs and 43 clinical indicators for modelling. Results: The indicators were ranked according to their model weights, and the top 25% of indicators were found to be directly or indirectly related to T2DM. We further investigated the clinical characteristics of different age and sex groups, and found that the algorithms can detect relevant indicators specific to these groups. The algorithms performed well in T2DM screening, with the highest area under the receiver operating characteristic curve (AUC) reaching 0.9185. Conclusion: This work utilized the interpretable WDD-based algorithms to construct T2DM diagnostic models based on physical examination indicators. By modeling data grouped by age and sex, we identified several predictive markers related to age and sex, uncovering characteristic differences among various groups of T2DM patients. [ABSTRACT FROM AUTHOR]

Prognosticating Amyotrophic Lateral Sclerosis (ALS) presents a formidable challenge due to patients exhibiting different onset sites, progression rates, and survival times. In this study, we have developed and evaluated Machine Learning (ML) algorithms that integrate Ensemble and Imbalance Learning techniques to classify patients into Short and Non-Short survival groups based on data collected during diagnosis. We aimed to identify individuals at high risk of mortality within 24 months of symptom onset through analysis of patient data commonly encountered in daily clinical practice. Our Ensemble-Imbalance approach underwent evaluation employing six ML algorithms as base classifiers. Remarkably, our results outperformed those of individual algorithms, achieving a Balanced Accuracy of 88% and a Sensitivity of 96%. Additionally, we used the Shapley Additive Explanations framework to elucidate the decision-making process of the top-performing model, pinpointing the most important features and their correlations with the target prediction. Furthermore, we presented helpful tools to visualize and compare patient similarities, offering valuable insights. Confirming the obtained results, our approach could aid physicians in devising personalized treatment plans at the time of diagnosis or serve as an inclusion/exclusion criterion in clinical trials. [ABSTRACT FROM AUTHOR]

Background: As the healthcare sector becomes increasingly reliant on technology, it is crucial for universities to offer bachelor's degrees in health informatics (HI). HI professionals bridge the gap between IT and healthcare, ensuring that technology complements patient care and clinical workflows; they promote enhanced patient outcomes, support clinical research, and uphold data security and privacy standards. This study aims to evaluate accredited HI academic programs in Saudi Arabia. Methods: This study employed a quantitative, descriptive, cross-sectional design utilising a self-reported electronic questionnaire consisting of predetermined items and response alternatives. Probability-stratified random sampling was also performed. Result: The responses rates were 39% (n = 241) for students and 62% (n = 53) for faculty members. While the participants expressed different opinions regarding the eight variables being examined, the faculty members and students generally exhibited a strong level of consensus on many variables. A notable association was observed between facilities and various other characteristics, including student engagement, research activities, admission processes, and curriculum. Similarly, a notable correlation exists between student engagement and the curriculum in connection to research, attrition, the function of faculty members, and academic outcomes. Conclusion: While faculty members and students hold similar views about the institution and its offerings, certain areas of divergence highlight the distinct perspectives and priorities of each group. The perception disparity between students and faculty in areas such as admission, faculty roles, and internships sheds light on areas of improvement and alignment for universities. [ABSTRACT FROM AUTHOR]

COVID-19 surveillance across the United States is essential to tracking and mitigating the pandemic, but data representing cases and deaths may be impacted by attribute, spatial, and temporal uncertainties. COVID-19 case and death data are essential to understanding the pandemic and serve as key inputs for prediction models that inform policy-decisions; consistent information across datasets is critical to ensuring coherent findings. We implement an exploratory data analytic approach to characterize, synthesize, and visualize spatial-temporal dimensions of uncertainty across commonly used datasets for case and death metrics (Johns Hopkins University, the New York Times, USAFacts, and 1Point3Acres). We scrutinize data consistency to assess where and when disagreements occur, potentially indicating underlying uncertainty. We observe differences in cumulative case and death rates to highlight discrepancies and identify spatial patterns. Data are assessed using pairwise agreement (Cohen's kappa) and agreement across all datasets (Fleiss' kappa) to summarize changes over time. Findings suggest highest agreements between CDC, JHU, and NYT datasets. We find nine discrete type-components of information uncertainty for COVID-19 datasets reflecting various complex processes. Understanding processes and indicators of uncertainty in COVID-19 data reporting is especially relevant to public health professionals and policymakers to accurately understand and communicate information about the pandemic. [ABSTRACT FROM AUTHOR]

Biomedical informatics can be considered as a multidisciplinary research and educational field situated at the intersection of computational sciences (including computer science, data science, mathematics, and statistics), biology, and medicine. In recent years, there have been advances in the field of biomedical informatics. The current article highlights some interesting state-of-the-art research outcomes in these fields. These include research outcomes in areas like (i) computational biology and medicine, (ii) explainable artificial intelligence (XAI) in biomedical research and clinical practice, (iii) machine learning (including deep learning) methods and application for bioinformatics and healthcare, (iv) imaging informatics, as well as (v) medical statistics and data science. Moreover, the current article also discusses some existing challenges and potential future directions for these research areas to advance the fields of biomedical informatics. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Phenylketonuria (PKU) is a hereditary disorder caused by phenylalanine hydroxylase enzyme (PAH) defects that might cause severe brain damage. The current main treatment, dietary management, can prevent the symptoms if commenced early. However, it has side effects if used for a long time. Additionally, some patients with mild hyperphenylalaninemia (mHPA), who has serum phenylalanine levels <360 μmol/L, do not require treatment. Since the correlation between genotype and metabolic phenotype has been demonstrated earlier, genotype‐based detection of patients who do not need treatment might help with genetic counseling and choosing the most appropriate treatment option. In this study, we report an asymptomatic adult with mHPA who had never taken any medical intervention to control or lower her serum phenylalanine level (Phe). She had 179 μmol/L serum phenylalanine level and carried p.[V230A];[V230I] genotype. Her child was affected with phenylketonuria and had p.[V230A];[V230A] genotype. Both pathogenic variants detected in the asymptomatic adult with mHPA were computationally analyzed to assess their pathogenicity and the p.V230I pathogenic variant was demonstrated to be responsible for the mHPA phenotype in the asymptomatic adult detected in this study. The findings in this study could contribute to genetic counseling and treatment for families and individuals with p.[V2030I];[V230A] genotype. [ABSTRACT FROM AUTHOR]