Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.

Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).

Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.

Gaps in psychiatric care before and after the COVID-19 pandemic among patients with depression using electronic health records.

The COVID-19 pandemic caused disruption to health services. It is unclear if there were inequalities in the continuity of mental health care in the years around the COVID-19 pandemic. We used electronic health records (EHR) to detect mental health care gaps of more than six months in psychiatric appointments across demographic and socioeconomic characteristics among patients with depression.

Digital Technologies Tracking Active and Passive Data Collection in Depressive Disorders: Lessons Learned From a Case Series.

In this case series, we present several examples from participants (2 patients and 1 healthy control) of a 12-week pilot feasibility study to create a digital phenotype of depression (unipolar or bipolar) through active and passive data collection from a smartphone and a wearable device combined with routine clinical care for mood disorders. The selected cases represent real clinical examples that highlight the intrinsic challenges that should be expected when conducting similar studies, including appropriate health data privacy protection, clinical standardization, and interindividual differences in levels of engagement and acceptability of active and passive data collection (ie, self-reported, behavioral, cognitive, and physiological data), particularly with patient-generated data in mobile apps, digital proficiency habituation, and consistent use of wearable devices. In the context of the rapidly growing use of digital technologies in psychiatry, anticipating challenges for the integration of personal mobile devices and smartphone mental health apps as aides to track specific aspects of depressive disorders is critical for a clinically meaningful digital transformation of mood disorders care.

The " Nasci Bem " app for health professionals and families of newborns: construction, validation and evaluation.

to construct, validate and evaluate an app for mobile devices on humanized care practices for newborns at habitual risk in maternity wards, aimed at health professionals and family members. a methodological study in seven stages: Literature review; Content organization; App construction; Validation by experts; Suitability after validation; Evaluation by the target audience; and Suitability after evaluation. A total of 22 experts took part in the validation and 21 individuals from the target audience in the evaluation.

Factors associated with the indication of neonatal echocardiography in the investigation of congenital heart diseases.

Objective: To analyze the factors associated with the indication of echocardiography for the investigation of congenital heart disease among newborns.

Method: Retrospective sectional study through the collection of 848 medical records of patients admitted to maternity hospitals in Rio de Janeiro-Brazil, respecting the time frame from September to December 2022.

Results: The average age of mothers was 26.

Health education website on home care for newborns: construction, validation, and evaluation.

Objective: to build, validate, and evaluate an educational health website on home care for newborns for use by pregnant women, postpartum women, and family members.

Method: methodological study developed according to the Analyze, Design, Develop, Implement, and Evaluate model. After construction, the website was validated by 20 experts and evaluated by 20 individuals from the target audience, and the data wasanalyzed according to the Concordance Index with a cut-off point equal to or greater than 0.

Usability of the ROBOVID mobile app for health education about COVID-19.

Objective: to evaluate the usability of the ROBOVID mobile application for health education about COVID-19.

Method: methodological study with an applied quantitative approach, developed with 21 adults, using an electronic form. Usability was assessed using the System Usability Scale.

Change in neurocognitive functioning in patients with treatment-resistant depression with serial intravenous ketamine infusions: The Bio-K multicenter trial.

This nonrandomized, multicenter, open-label clinical trial explored the impact of intravenous (IV) ketamine on cognitive function in adults (n = 74) with treatment-resistant depression (TRD). Patients received three IV ketamine infusions during the acute phase and, if remitted, four additional infusions in the continuation phase (Mayo site). Cognitive assessments using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) were conducted at baseline, end of the acute phase, and end of the continuation phase (Mayo site).

Digital Phenotyping for Mood Disorders: Methodology-Oriented Pilot Feasibility Study.

Background: In the burgeoning area of clinical digital phenotyping research, there is a dearth of literature that details methodology, including the key challenges and dilemmas in developing and implementing a successful architecture for technological infrastructure, patient engagement, longitudinal study participation, and successful reporting and analysis of diverse passive and active digital data streams.

Objective: This article provides a narrative rationale for our study design in the context of the current evidence base and best practices, with an emphasis on our initial lessons learned from the implementation challenges and successes of this digital phenotyping study.

Methods: We describe the design and implementation approach for a digital phenotyping pilot feasibility study with attention to synthesizing key literature and the reasoning for pragmatic adaptations in implementing a multisite study encompassing distinct geographic and population settings.

Clinical outcomes in the biomarkers of ketamine (Bio-K) study of open-label IV ketamine for refractory depression.

Objective: We conducted an open-label clinical trial ("Bio-K") using IV ketamine for treatment-resistant depression to identify biomarkers linked to remission. Here, we report the clinical efficacy and side effect outcomes of Bio-K.

Methods: Across 4 US sites, 75 patients ages 18-65 with treatment-refractory unipolar or bipolar depression received 3 IV ketamine infusions over an 11-day period.

Classifying and clustering mood disorder patients using smartphone data from a feasibility study.

Differentiating between bipolar disorder and major depressive disorder can be challenging for clinicians. The diagnostic process might benefit from new ways of monitoring the phenotypes of these disorders. Smartphone data might offer insight in this regard.

Evaluation of the mobile application "Descomplicando a Amamentação" by family members of newborns.

to evaluate the semantics, appearance and usability of the mobile application "Descomplicando a Amamentação" for family members of newborns. applied methodological study, developed with 20 family members of newborns users of educational technology, including pregnant women, postpartum women and family members of newborns. An evaluation instrument containing questions about semantics and appearance was applied, in addition to the System Usability Scale to evaluate usability.

Continuing breastfeeding upon returning to work: feelings, challenges and strategies of breastfeeding nurses.

Objective: To describe feelings, challenges and strategies related to the continuity of breastfeeding after returning to work in the perception of lactating nurses.

Method: Descriptive, exploratory, qualitative study, with snowball sampling. Data collection occurred virtually between August and September 2020 in the State of Rio de Janeiro.

The Human Phenotype Ontology in 2024: phenotypes around the world.

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.

Development and validation of a video on first aid for choking incidents in the school environment.

Objective: To develop and validate an educational video on first aid for choking incidents in children in the school environment.

Method: Methodological study, conducted between 2021 and 2022, in six stages: search for themes through interviews with 13 teachers and staff members who work in early childhood education in Niterói; theoretical study; development of the video; validation with 17 expert judges; video adaptation and validation with 17 teachers and staff. The interviews were analyzed using the Iramuteq software and the validation through the concordance index, with a desirable value of 70%.

Lithium Response in Bipolar Disorder is Associated with Focal Adhesion and PI3K-Akt Networks: A Multi-omics Replication Study.

Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium.