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.

Securing direct stakeholder feedback to inform clinical research in serious mental illness: Results of a patient and family perspectives survey.

Mental illness research routinely includes unfamiliar or potentially frightening procedures like lumbar puncture (LP), contributing to low enrollment and retention. Previous studies related to LP acceptance have focused on older individuals, and little information on participant preferences for educational materials is available. We developed an online survey assessing existing knowledge, comfort and concerns, and preferences for educational materials in the context of our clinical study on schizophrenia spectrum conditions (SSCs).

Lived Experience-Led Research Agenda to Address Early Death in People With a Diagnosis of a Serious Mental Illness: A Consensus Statement.

Importance: People with serious mental illness (SMI), defined as a diagnosis of schizophrenia spectrum disorder, bipolar disorder, or disabling major depressive disorder) die approximately 10 to 25 years earlier than the general population.

Objective: To develop the first-ever lived experience-led research agenda to address early mortality in people with SMI.

Evidence Review: A virtual 2-day roundtable comprising 40 individuals convened on May 24 and May 26, 2022, and used a virtual Delphi method to arrive at expert group consensus.

Needs and Experiences of Users of Digital Navigation Tools for Mental Health Treatment and Supportive Services: Survey Study.

Background: Despite a recent proliferation in web-based and digital resources that are designed to assist users in finding appropriate mental health treatment and supportive services, it can be overwhelming, confusing, and difficult for an individual or family member to access and use an appropriate navigation tool. As digital resources are increasingly sought after, there is an urgent need for a clearer understanding of digital navigation tools in order to help link individuals with the tool that is best suited to their needs.

Objective: The objective of this study was to determine the needs of individuals seeking mental health treatment and supportive services and to quantify their experiences and satisfaction with available digital navigation tools.

Stigma and functional neurological disorder: a research agenda targeting the clinical encounter.

Stigma against patients with functional neurological disorder (FND) presents obstacles to diagnosis, treatment, and research. The lack of biomarkers and the potential for symptoms to be misunderstood, invalidated, or dismissed can leave patients, families, and healthcare professionals at a loss. Stigma exacerbates suffering and unmet needs of patients and families, and can result in poor clinical management and prolonged, repetitive use of healthcare resources.

Regulatory perspective on minimal residual disease flow cytometry testing in multiple myeloma.

The FDA has co-sponsored three workshops to address minimal residual disease (MRD) detection in acute lymphocytic leukemia (ALL), chronic lymphocytic leukemia (CLL), and acute myeloid leukemia (AML) as well as an FDA-NCI roundtable symposium on MRD detection and its use as a response biomarker in Multiple Myeloma (MM). As clinical outcomes in MM continue to improve with the introduction of new therapeutics, consideration of biomarkers and their development as validated surrogate endpoints that can be used in the place of traditional clinical trial endpoints of progression-free survival (PFS) will be fundamental to expeditious drug development. This article will describe the FDA drug approval process, the regulatory framework through which a biomarker can be used as a surrogate endpoint for drug approval, and how MRD detection in MM fits within this context.

Norepinephrine regulates hepatic innate immune system in leptin-deficient mice with nonalcoholic steatohepatitis.

It is not known why natural killer T (NKT) cells, which modulate liver injury by regulating local cytokine production, are reduced in leptin-deficient ob/ob mice. NKT cells express adrenoceptors. Thus, we hypothesize that the low norepinephrine (NE) activity of ob/ob mice promotes depletion of liver NKT cells, thereby sensitizing ob/ob livers to lipopolysaccharide (LPS) toxicity.