Examining HPO by organ and system to facilitate practical use by clinicians.

The Human Phenotype Ontology (HPO) is widely used for annotating clinical text data, and sufficient annotation is crucial for the effective utilization of clinical texts. It was known that the use of LLMs can successfully extract symptoms and findings, but cannot annotate them with the HPO. We hypothesized that one of the potential issue for this is the lack of appropriate terms in the HPO.

Misleading presentations in functional food trials led by contract research organizations were frequently observed in Japan: meta-epidemiological study.

Objectives: The functional food market has experienced significant growth, leading to an uptick in clinical trials conducted by contract research organizations (CROs). Research focusing on CRO-managed trials and the communication of trial outcomes to the consumer market remains underexplored. This metaepidemiological study aims to evaluate the quality of randomized controlled trials (RCTs) facilitated by prominent CROs in Japan and to examine the quality of the representations used to convey their results to consumers.

Glutathione S-transferases Control astrocyte activation and neuronal health during neuroinflammation.

Glutathione S-transferases (GST) are phase II detoxification enzymes of xenobiotic metabolism and readily expressed in the brain. Nevertheless, the current knowledge about their roles in the brain is limited. We have recently discovered that GSTM1 promotes the production of pro-inflammatory mediators by astrocytes and enhances microglial activation during acute brain inflammation.

Unclear Insomnia Concept in Randomized Controlled Trials and Systematic Reviews: A Meta-Epidemiological Study.

There are two possible ways to conceptualize the term "insomnia": insomnia disorder and insomnia symptoms, which are often poorly reported. The purpose of this study was to examine the proportion of randomized controlled trials (RCTs) and systematic reviews (SRs) that mention insomnia in their abstracts and cannot distinguish between insomnia disorder and insomnia symptoms from the abstract. We included RCT and SR articles that included the word "insomnia" in the methods or results sections of their structured abstracts, published after 2010.

The Utility of Small Fishes for the Genetic Study of Human Age-Related Disorders.

Animal models have been used to model human diseases, and among them, small fishes have been highlighted for their usefulness in various ways, such as the low cost of maintenance, ease of genetic modification, small size for easy handling, and strength in imaging studies due to their relative transparency. Recently, the use of turquoise killifish, , which is known to exhibit various aging phenotypes in a short period, has attracted attention in research on aging and age-related diseases. However, when using animal models, it is important to keep their genetic background and interspecies differences in mind for translating them into human diseases.

The Contribution of Chest X-Ray to Predict Extubation Failure in Mechanically Ventilated Patients Using Machine Learning-Based Algorithms.

Objectives: To evaluate the contribution of a preextubation chest X-ray (CXR) to identify the risk of extubation failure in mechanically ventilated patients.

Design: Retrospective cohort study.

Settings: ICUs in a tertiary center (the Medical Information Mart for Intensive Care IV database).

Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.

Background And Aims: Some hereditary transthyretin (ATTRv) amyloidosis patients are misdiagnosed as Charcot-Marie-Tooth disease (CMT) at onset. We assess the findings to identify ATTRv amyloidosis among patients with suspected CMT to screen transthyretin gene variants for treatments.

Methods: We assessed clinical, cerebrospinal fluid, and electrophysiological findings by comparing ATTRv amyloidosis patients with suspected CMT (n = 10) and CMT patients (n = 489).

Visualizing the phenotype diversity: a case study of Alexander disease.

Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients uncommonly presenting with rare diseases. It can also be difficult for the patient, their families, and even clinicians to know which one of a number of disease phenotypes the patient is exhibiting.

Alterations in circulating extracellular vesicles underlie social stress-induced behaviors in mice.

Chronic stress induces peripheral and intracerebral immune changes and inflammation, contributing to neuropathology and behavioral abnormalities relevant to psychiatric disorders such as depression. Although the pathological implication of many peripheral factors such as pro-inflammatory cytokines, hormones, and macrophages has been demonstrated, the roles of circulating extracellular vesicles (EVs) for chronic stress mechanisms remain poorly investigated. Here, we report that chronic social defeat stress (CSDS)-induced social avoidance phenotype, assessed by a previously untested three-chamber social approach test, can be distinguished by multiple pro-inflammatory cytokines and EV-associated molecular signatures in the blood.

Glutathione -transferases promote proinflammatory astrocyte-microglia communication during brain inflammation.

Astrocytes and microglia play critical roles in brain inflammation. Here, we report that glutathione -transferases (GSTs), particularly GSTM1, promote proinflammatory signaling in astrocytes and contribute to astrocyte-mediated microglia activation during brain inflammation. In vivo, astrocyte-specific knockdown of GSTM1 in the prefrontal cortex attenuated microglia activation in brain inflammation induced by systemic injection of lipopolysaccharides (LPS).

Extracellular Vesicles for Research on Psychiatric Disorders.

Extracellular vesicles (EVs) have gained increasing attention as underexplored intercellular communication mechanisms in basic science and as potential diagnostic tools in translational studies, particularly those related to cancers and neurological disorders. This article summarizes accumulated findings in the basic biology of EVs, EV research methodology, and the roles of EVs in brain cell function and dysfunction, as well as emerging EV studies in human brain disorders. Further research on EVs in neurobiology and psychiatry may open the door to a better understanding of intercellular communications in healthy and diseased brains, and the discovery of novel biomarkers and new therapeutic strategies in psychiatric disorders.

Behavioral Changes in Mice Lacking Interleukin-33.

Interleukin (IL)-33 is a member of the IL-1 family of cytokines. IL-33 is expressed in nuclei and secreted as alarmin upon cellular damage to deliver a danger signal to the surrounding cells. Previous studies showed that IL-33 is expressed in the brain and that it is involved in neuroinflammatory and neurodegenerative processes in both humans and rodents.

Developmental expression of GPR3 in rodent cerebellar granule neurons is associated with cell survival and protects neurons from various apoptotic stimuli.

G-protein coupled receptor 3 (GPR3), GPR6, and GPR12 belong to a family of constitutively active Gs-coupled receptors that activate 3'-5'-cyclic adenosine monophosphate (cAMP) and are highly expressed in the brain. Among these receptors, the endogenous expression of GPR3 in cerebellar granule neurons (CGNs) is increased following development. GPR3 is important for neurite outgrowth and neural maturation; however, the physiological functions of GPR3 remain to be fully elucidated.

Amelioration of persistent, non-ketotic hyperglycemia-induced hemichorea by repetitive transcranial magnetic stimulation.

Diabetic hemichorea-hemiballism with non-ketotic hyperglycemia is usually a benign syndrome. Here, we report a 78-year-old woman with persistent hemichorea (HC) for longer than 1 year with a recurrence after rapid correction of hyperglycemia. Following the disappearance of the characteristic T1 hyperintensity at 3 months after onset, an MRI demonstrated T2* hypointensity and atrophic changes in the contralateral striatum, suggesting irreversible neuronal loss and some vascular proliferation.

Establishment of a novel fluorescence-based method to evaluate chaperone-mediated autophagy in a single neuron.

Background: Chaperone-mediated autophagy (CMA) is a selective autophagy-lysosome protein degradation pathway. The role of CMA in normal neuronal functions and in neural disease pathogenesis remains unclear, in part because there is no available method to monitor CMA activity at the single-cell level.

Methodology/principal Findings: We sought to establish a single-cell monitoring method by visualizing translocation of CMA substrates from the cytosol to lysosomes using the HaloTag (HT) system.

Hypoxic stress activates chaperone-mediated autophagy and modulates neuronal cell survival.

Autophagy is a conserved mechanism responsible for the continuous clearance of unnecessary organelles or misfolded proteins in lysosomes. Three types of autophagy have been reported in the difference of substrate delivery to lysosome: macroautophagy, microautophagy, and chaperone-mediated autophagy (CMA). Among these types, CMA is a unique autophagy system that selectively degrades substrates detected by heat shock cognate protein 70 (HSC70).

Granulovacuolar degenerations appear in relation to hippocampal phosphorylated tau accumulation in various neurodegenerative disorders.

Background: Granulovacuolar degeneration (GVD) is one of the pathological hallmarks of Alzheimer's disease (AD), and it is defined as electron-dense granules within double membrane-bound cytoplasmic vacuoles. Several lines of evidence have suggested that GVDs appear within hippocampal pyramidal neurons in AD when phosphorylated tau begins to aggregate into early-stage neurofibrillary tangles. The aim of this study is to investigate the association of GVDs with phosphorylated tau pathology to determine whether GVDs and phosphorylated tau coexist among different non-AD neurodegenerative disorders.

Trigeminal neuropathy from perineural spread of an amyloidoma detected by blink reflex and thin-slice magnetic resonance imaging.

The purpose of this study was to describe a trigeminal neuropathy caused by the perineural spread of an amyloidoma. A 62-year-old woman had an amyloidoma of the Gasserian ganglion that was hypointense on T2-weighted images; the lesion was enhanced by gadolinium on thin-slice magnetic resonance imaging. There was no evidence of systemic amyloidosis or underlying inflammatory or neoplastic disorders.