The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
Investigators in neuroscience have turned to Big Data to address replication and reliability issues by increasing sample sizes, statistical power, and representativeness of data. These efforts unveil new questions about integrating data arising from distinct sources and instruments. We focus on the most frequently assessed cognitive domain - memory testing - and demonstrate a process for reliable data harmonization across three common measures. We aggregated global raw data from 53 studies totaling N = 10,505 individuals. A mega-analysis was conducted using empirical bayes harmonization to remove site effects, followed by linear models adjusting for common covariates. A continuous item response theory (IRT) model estimated each individual's latent verbal learning ability while accounting for item difficulties. Harmonization significantly reduced inter-site variance while preserving covariate effects, and our conversion tool is freely available online. This demonstrates that large-scale data sharing and harmonization initiatives can address reproducibility and integration challenges across the behavioral sciences.
- Klíčová slova
- Harmonization, Mega analysis, Tools, Verbal learning,
- Publikační typ
- časopisecké články MeSH
- preprinty MeSH
BACKGROUND: The clinical effects of smartphone-based interventions for bipolar disorder (BD) have yet to be established. OBJECTIVES: To examine the efficacy of smartphone-based interventions in BD and how the included studies reported user-engagement indicators. METHODS: We conducted a systematic search on January 24, 2022, in PubMed, Scopus, Embase, APA PsycINFO, and Web of Science. We used random-effects meta-analysis to calculate the standardized difference (Hedges' g) in pre-post change scores between smartphone intervention and control conditions. The study was pre-registered with PROSPERO (CRD42021226668). RESULTS: The literature search identified 6034 studies. Thirteen articles fulfilled the selection criteria. We included seven RCTs and performed meta-analyses comparing the pre-post change in depressive and (hypo)manic symptom severity, functioning, quality of life, and perceived stress between smartphone interventions and control conditions. There was significant heterogeneity among studies and no meta-analysis reached statistical significance. Results were also inconclusive regarding affective relapses and psychiatric readmissions. All studies reported positive user-engagement indicators. CONCLUSION: We did not find evidence to support that smartphone interventions may reduce the severity of depressive or manic symptoms in BD. The high heterogeneity of studies supports the need for expert consensus to establish ideally how studies should be designed and the use of more sensitive outcomes, such as affective relapses and psychiatric hospitalizations, as well as the quantification of mood instability. The ISBD Big Data Task Force provides preliminary recommendations to reduce the heterogeneity and achieve more valid evidence in the field.
- Klíčová slova
- bipolar disorder, efficacy, engagement, smartphone interventions, task force,
- MeSH
- big data MeSH
- bipolární porucha * psychologie MeSH
- chytrý telefon * MeSH
- kvalita života MeSH
- lidé MeSH
- recidiva MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- systematický přehled MeSH
OBJECTIVES: The International Society for Bipolar Disorders Big Data Task Force assembled leading researchers in the field of bipolar disorder (BD), machine learning, and big data with extensive experience to evaluate the rationale of machine learning and big data analytics strategies for BD. METHOD: A task force was convened to examine and integrate findings from the scientific literature related to machine learning and big data based studies to clarify terminology and to describe challenges and potential applications in the field of BD. We also systematically searched PubMed, Embase, and Web of Science for articles published up to January 2019 that used machine learning in BD. RESULTS: The results suggested that big data analytics has the potential to provide risk calculators to aid in treatment decisions and predict clinical prognosis, including suicidality, for individual patients. This approach can advance diagnosis by enabling discovery of more relevant data-driven phenotypes, as well as by predicting transition to the disorder in high-risk unaffected subjects. We also discuss the most frequent challenges that big data analytics applications can face, such as heterogeneity, lack of external validation and replication of some studies, cost and non-stationary distribution of the data, and lack of appropriate funding. CONCLUSION: Machine learning-based studies, including atheoretical data-driven big data approaches, provide an opportunity to more accurately detect those who are at risk, parse-relevant phenotypes as well as inform treatment selection and prognosis. However, several methodological challenges need to be addressed in order to translate research findings to clinical settings.
- Klíčová slova
- big data, bipolar disorder, data mining, deep learning, machine learning, personalized psychiatry, predictive psychiatry, risk prediction,
- MeSH
- big data * MeSH
- bipolární porucha epidemiologie terapie MeSH
- datové vědy MeSH
- fenotyp MeSH
- hodnocení rizik MeSH
- klinické rozhodování * MeSH
- lidé MeSH
- poradní výbory MeSH
- prognóza MeSH
- sebevražedné myšlenky * MeSH
- strojové učení * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
Despite high rates of suicide in people who inject drugs, little is known about the risk factors for suicide related to childhood and family history in this population. We aimed to explore the relationship between the history of out-of-home care (OHC) and lifetime suicide attempts among people who inject opioids. Participants (N = 202) were current injection opioid users with at least one previous episode of opioid maintenance treatment. They were recruited into a double-blind randomized controlled trial for opioid substitution treatment. Secondary analysis of baseline data was conducted from the European Addiction Severity Index and basic demographics questionnaires. A total of 81 (40%) participants reported a history of living in OHC and 27% reported attempting suicide. Participants who reported living in OHC were more likely to report lifetime suicide attempts compared to those who did not live in OHC. History of OHC and suicidal ideation were significant risk factors for suicide attempts adjusting for depression and anxiety. Highest rates of lifetime attempts were among participants who lived in a group home, foster care, and/or psychiatric facility. Living in OHC during childhood was significantly associated with higher rates of suicide attempts in our sample. Greater efforts should be made to provide children from vulnerable families with environments where stable one-to-one relationships can be cultivated.
- Klíčová slova
- Addiction, Child care, Family history, Foster care, Heroin, Out-of-home care, Suicide,
- MeSH
- dospělí MeSH
- dvojitá slepá metoda MeSH
- intravenózní abúzus drog epidemiologie psychologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- pokus o sebevraždu psychologie trendy MeSH
- rizikové faktory MeSH
- rodičovství psychologie trendy MeSH
- sebevražedné myšlenky * MeSH
- zpráva o sobě MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
BACKGROUND: Pharmacotherapy remains one of the major interventional strategies in medicine. However, patients from all age groups and conditions face challenges when taking medications, such as integrating them into the daily routine, understanding their effects and side effects, and monitoring outcomes. In this context, a reliable medication management tool adaptable to the patient's needs becomes critical. As most people have a mobile phone, mobile apps offer a platform for such a personalized support tool available on the go. OBJECTIVE: This study aimed to provide an overview of available mobile apps, focusing on those that help patients understand and take their medications. We reviewed the existing apps and provided suggestions for future development based on the concept understand and manage, instead of the conventional adhere to medication. This concept aims to engage and empower patients to be in charge of their health, as well as see medication as part of a broader clinical approach, working simultaneously with other types of interventions or lifestyle changes, to achieve optimal outcomes. METHODS: We performed a Web search in the iOS Apple App Store and Android Google Play Store, using 4 search terms: medication management, pill reminder, medication health monitor, and medication helper. We extracted information from the app store descriptions for each eligible app and categorized into the following characteristics: features, author affiliation, specialty, user interface, cost, and user rating. In addition, we conducted Google searches to obtain more information about the author affiliation. RESULTS: A total of 328 apps (175 Android and 153 iOS) were categorized. The majority of the apps were developed by the software industry (73%, 11/15), a minority of them were codeveloped by health care professionals (15%, 3/20) or academia (2.1%; 7/328). The most prevalent specialty was diabetes (23 apps). Only 7 apps focused on mental health, but their content was highly comprehensive in terms of features and had the highest prevalence of the education component. The most prevalent features were reminder, symptom tracker, and ability to share data with a family member or doctor. In addition, we highlighted the features considered innovative and listed practical suggestions for future development and innovations. CONCLUSIONS: We identified detailed characteristics of the existing apps, with the aim of informing future app development. Ultimately, the goal was to provide users with effective mobile health solutions, which can be expected to improve their engagement in the treatment process and long-term well-being. This study also highlighted the need for improved standards for reporting on app stores. Furthermore, it underlined the need for a platform to offer health app users an ongoing evaluation of apps by health professionals in addition to other users and to provide them with tools to easily select an appropriate and trustworthy app.
- Klíčová slova
- drugs, eHealth, mHealth, pharmaceuticals, therapy,
- MeSH
- adherence k farmakoterapii psychologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- management nemoci MeSH
- mobilní aplikace statistika a číselné údaje trendy MeSH
- péče o sebe MeSH
- systémy medikace normy statistika a číselné údaje MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
BACKGROUND: Despite the increasing amount of research on Web-based mental health interventions with proven efficacy, high attrition rates decrease their effectiveness. Continued process evaluations should be performed to maximize the target population's engagement. Google Analytics has been used to evaluate various health-related Web-based programs and may also be useful for Web-based mental health programs. OBJECTIVE: The objective of our study was to evaluate WalkAlong.ca, a youth-oriented mental health web-portal, using Google Analytics to inform the improvement strategy for the platform and to demonstrate the use of Google Analytics as a tool for process evaluation of Web-based mental health interventions. METHODS: Google Analytics was used to monitor user activity during WalkAlong's first year of operation (Nov 13, 2013-Nov 13, 2014). Selected Google Analytic variables were overall website engagement including pages visited per session, utilization rate of specific features, and user access mode and location. RESULTS: The results included data from 3076 users viewing 29,299 pages. Users spent less average time on Mindsteps (0 minute 35 seconds) and self-exercises (1 minute 08 seconds), which are important self-help tools, compared with that on the Screener tool (3 minutes 4 seconds). Of all visitors, 82.3% (4378/5318) were desktop users, followed by 12.7 % (677/5318) mobile phone and 5.0% (263/5318) tablet users. Both direct traffic (access via URL) and referrals by email had more than 7 pages viewed per session and longer than average time of 6 minutes per session. The majority of users (67%) accessed the platform from Canada. CONCLUSIONS: Engagement and feature utilization rates are higher among people who receive personal invitations to visit the site. Low utilization rates with specific features offer a starting place for further exploration of users in order to identify the root cause. The data provided by Google Analytics, although informative, can be supplemented by other evaluation methods (ie, qualitative methods) in order to better determine the modifications required to improve user engagement. Google Analytics can play a vital role in highlighting the preferences of those using Web-based mental health tools.
- Klíčová slova
- Google Analytics, evaluation, mental health, website,
- Publikační typ
- časopisecké články MeSH
Bipolar disorder (BD) is a common, highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. Lithium is the best-established long-term treatment for BD, even though individual response is highly variable. Evidence suggests that some of this variability has a genetic basis. This is supported by the largest genome-wide association study (GWAS) of lithium response to date conducted by the International Consortium on Lithium Genetics (ConLiGen). Recently, we performed the first genome-wide analysis of the involvement of miRNAs in BD and identified nine BD-associated miRNAs. However, it is unknown whether these miRNAs are also associated with lithium response in BD. In the present study, we therefore tested whether common variants at these nine candidate miRNAs contribute to the variance in lithium response in BD. Furthermore, we systematically analyzed whether any other miRNA in the genome is implicated in the response to lithium. For this purpose, we performed gene-based tests for all known miRNA coding genes in the ConLiGen GWAS dataset (n = 2,563 patients) using a set-based testing approach adapted from the versatile gene-based test for GWAS (VEGAS2). In the candidate approach, miR-499a showed a nominally significant association with lithium response, providing some evidence for involvement in both development and treatment of BD. In the genome-wide miRNA analysis, 71 miRNAs showed nominally significant associations with the dichotomous phenotype and 106 with the continuous trait for treatment response. A total of 15 miRNAs revealed nominal significance in both phenotypes with miR-633 showing the strongest association with the continuous trait (p = 9.80E-04) and miR-607 with the dichotomous phenotype (p = 5.79E-04). No association between miRNAs and treatment response to lithium in BD in either of the tested conditions withstood multiple testing correction. Given the limited power of our study, the investigation of miRNAs in larger GWAS samples of BD and lithium response is warranted.
- Klíčová slova
- bipolar disorder, common variants, genome-wide association study, lithium response, microRNA,
- Publikační typ
- časopisecké články MeSH
