Are Diffusion Models Effective Good Feature Extractors for MRI Discriminative Tasks?

Purpose: Diffusion models (DMs) excel in pixel-level and spatial tasks and are proven feature extractors for 2D image discriminative tasks when pretrained. However, their capabilities in 3D MRI discriminative tasks remain largely untapped. This study seeks to assess the effectiveness of DMs in this underexplored area.

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Pathogenic SNF2 related chromatin remodeling ATPase 1 (SMARCA1) variants have been reported in patients with X-linked intellectual disability (XLID) characterized by macrocephaly and variable neurological symptoms. Here, we report two unrelated male patients with XLID due to novel SMARCA1 variants detected by exome sequencing. Patient 1 showed macrocephaly, behavioral difficulty, and learning disability with a hemizygous SMARCA1 variant (NM_003069.

Causal relationship between body mass index and insulin resistance: Linear and nonlinear Mendelian randomization study in a Japanese population.

Aims/introduction: Obesity is a known risk factor for several chronic diseases, including type 2 diabetes mellitus, which results from increased insulin resistance and impaired insulin secretion. However, the association between obesity and insulin resistance in Asian populations has not yet been fully elucidated. Therefore, we aimed to investigate the causal relationship between body mass index (BMI) and glycemic traits using Mendelian randomization (MR).

Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases.

Biological mechanisms underlying multimorbidity remain elusive. To dissect the polygenic heterogeneity of multimorbidity in twelve complex traits across populations, we leveraged biobank resources of genome-wide association studies (GWAS) for 232,987 East Asian individuals (the 1st and 2nd cohorts of BioBank Japan) and 751,051 European individuals (UK Biobank and FinnGen). Cross-trait analyses of respiratory and cardiometabolic diseases, rheumatoid arthritis, and smoking identified negative genetic correlations between respiratory and cardiometabolic diseases in East Asian individuals, opposite from the positive associations in European individuals.

Breaking the vicious cycle: Reciprocal influences between social isolation and functional disability and the buffering effect of digital inclusion.

In aging societies like Japan, social isolation (SI) and functional disability (FD) critically impact older adults' health, yet their bidirectional relationship and potential moderators remain underexplored. This prospective cohort study examined the bidirectional SI-FD association and tested digital inclusion's (DI) moderating role among community-dwelling Japanese older adults. We analyzed 480 adults aged ≥65 across three waves (baseline, 3-year, 6-year follow-ups) using multi-group random intercept cross-lagged panel models (RI-CLPM) to disentangle within-person and between-person effects.

DUIncoder: Learning to Detect Driving Under the Influence Behaviors from Various Normal Driving Data.

Driving Under the Influence (DUI) has emerged as a significant threat to public safety in recent years. Despite substantial efforts to effectively detect DUI, the inherent risks associated with acquiring DUI-related data pose challenges in meeting the data requirements for training. To address this issue, we propose DUIncoder, which is an unsupervised framework designed to learn exclusively from normal driving data across diverse scenarios to detect DUI behaviors and provide explanatory insights.

Genome-wide association study of plasma amino acids and Mendelian randomization for cardiometabolic traits.

Plasma amino acids (AAs) have emerged as promising biomarkers for metabolic disorders, yet their causality remains unclear. We aimed to investigate the genetic determinants of AA levels in a cohort of 10,333 individuals and their causal effects on cardiometabolic traits using Mendelian randomization (MR). Plasma levels of 20 AAs were quantified using capillary electrophoresis mass spectrometry.

Human iPS cell-derived respiratory organoids as a model for respiratory syncytial virus infection.

Respiratory syncytial virus (RSV) is a seasonal respiratory pathogen that primarily affects young children, potentially causing severe lower respiratory tract disease. Despite the high disease burden, understanding of RSV pathophysiology remains limited. To address this, advanced RSV infection models are needed.

Low-Rank, High-Order Tensor Completion via t- Product-Induced Tucker (tTucker) Decomposition.

Recently, tensor singular value decomposition (t-SVD)-based methods were proposed to solve the low-rank tensor completion (LRTC) problem, which has achieved unprecedented success on image and video inpainting tasks. The t-SVD is limited to process third-order tensors. When faced with higher-order tensors, it reshapes them into third-order tensors, leading to the destruction of interdimensional correlations.

The trajectory of functional status among older adults with chronic diseases and the association with social relationships.

Background: Functional status crucially affects healthy aging. Identifying trajectory of functional status and related determinants is important. We aimed to identify the trajectory of functional status over 6 years among older adults with chronic diseases and its association with social relationships.

Preeclampsia prediction with maternal and paternal polygenic risk scores: the TMM BirThree Cohort Study.

Genomic information from pregnant women and the paternal parent of their fetuses may provide effective biomarkers for preeclampsia (PE). This study investigated the association of parental polygenic risk scores (PRSs) for blood pressure (BP) and PE with PE onset and evaluated predictive performances of PRSs using clinical predictive variables. In the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study, 19,836 participants were genotyped using either Affymetrix Axiom Japonica Array v2 (further divided into two cohorts-the PRS training cohort and the internal-validation cohort-at a ratio of 1:2) or Japonica Array NEO (external-validation cohort).

Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population.

Atrial fibrillation (AF) is the most prevalent arrhythmia in the world and can cause serious complications such as stroke or heart failure. Paroxysmal atrial fibrillation (PAF), a subtype of AF, accounts for approximately 25% of AF cases and is estimated to affect approximately 30 million people worldwide. Despite extensive genetic research on AF, the genetic factors involved in PAF in East Asian (EAS) populations remain unidentified.

Translational genomics of osteoarthritis in 1,962,069 individuals.

Osteoarthritis is the third most rapidly growing health condition associated with disability, after dementia and diabetes. By 2050, the total number of patients with osteoarthritis is estimated to reach 1 billion worldwide. As no disease-modifying treatments exist for osteoarthritis, a better understanding of disease aetiopathology is urgently needed.

Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank.

Runs of homozygosity (ROHs) are widely observed across the genomes of various species and have been reported to be associated with many traits and common diseases, as well as rare recessive diseases, in human populations. Although single nucleotide polymorphism (SNP) array data have been used in previous studies on ROHs, recent advances in whole-genome sequencing (WGS) technologies and the development of nationwide cohorts/biobanks are making high-density genomic data increasingly available, and it is consequently becoming more feasible to detect ROHs at higher resolution. In the study, we searched for ROHs in two high-coverage WGS datasets from 3552 Japanese individuals and 192 three-generation families (consisting of 1120 family members) in prospective genomic cohorts.

Influence of pitch modulation on event-related potentials elicited by Dutch word stimuli in a brain-computer interface language rehabilitation task.

Recently, a novel language training using an auditory brain-computer interface (BCI) based on electroencephalogram recordings has been proposed for chronic stroke patients with aphasia. Tested with native German patients, it has shown significant and medium to large effect sizes in improving multiple aspects of language. During the training, the auditory BCI system delivers word stimuli using six spatially arranged loudspeakers.

Zinc eluted from glassware is a risk factor for embryo development in human and animal assisted reproduction†.

In assisted reproduction, many factors in the culture environment, including light, temperature, pH, and culture media, can reduce preimplantation embryo viability. Laboratory glassware is also a known risk factor for in vitro embryos; however, the underlying mechanisms that disrupt embryonic development remain unclear. We identified Zn eluted from glassware as an embryotoxic substance.

iPSC screening identifies CACNA2D2 as a potential therapeutic target for FTLD-Tau.

Frontotemporal Lobar Degeneration (FTLD) is a neurodegenerative disorder that affects the frontal and temporal lobes, which are crucial for regulating personality, behavior, and language. Pathologically, FTLD is characterized by Tau protein accumulation and neuronal death. In our effort to identify disease-modifying treatments, we conducted drug screening using neurons derived from induced pluripotent stem cells (iPSCs) of FTLD-Tau patients.

Large language models open new way of AI-assisted molecule design for chemists.

Recent advancements in artificial intelligence (AI)-based molecular design methodologies have offered synthetic chemists new ways to design functional molecules with their desired properties. While various AI-based molecule generators have significantly advanced toward practical applications, their effective use still requires specialized knowledge and skills concerning AI techniques. Here, we develop a large language model (LLM)-powered chatbot, ChatChemTS, that assists users in designing new molecules using an AI-based molecule generator through only chat interactions, including automated construction of reward functions for the specified properties.

Non-viral generation of transgenic non-human primates via the piggyBac transposon system.

Non-human primates, such as cynomolgus monkeys, are invaluable experimental models for understanding human biology and disease. Their close genetic relationship to humans makes them essential for studying fundamental human developmental processes and disease progression. Although lentiviral methods for generating transgenic monkeys exist, several inherent technical difficulties limit their utility.

Brain network alterations in mobile phone use problem severity: A multimodal neuroimaging analysis.

Background And Aims: Problematic mobile phone use can disrupt social interaction and well-being, potentially influencing cognitive processes. This study investigated whether mobile phone use problem severity is associated with alterations in the topological organization of brain networks.

Methods: Rs-fMRI and DTI data were collected from 81 healthy participants.

Sexual Assertiveness Across Cultures, Genders, and Sexual Orientations: Validation of the Short Sexual Assertiveness Questionnaire (SAQ-9).

Sexual assertiveness (SA) is an important concept in understanding sexual well-being and decision-making. However, psychometric evaluation of existing measures of SA in diverse populations is largely lacking, hindering cross-cultural and comparative studies. This study validated the short version of the Sexual Assertiveness Questionnaire (SAQ-9) and examined its measurement invariance across several languages, countries, genders, sexual orientations, and relationship statuses among 65,448 sexually-active adults ( = 32.

A data-driven generative strategy to avoid reward hacking in multi-objective molecular design.

Molecular design using data-driven generative models has emerged as a promising technology, impacting various fields such as drug discovery and the development of functional materials. However, this approach is often susceptible to optimization failure due to reward hacking, where prediction models fail to extrapolate, i.e.

Comprehensive evaluation of pipelines for classification of psychiatric disorders using multi-site resting-state fMRI datasets.

Objective classification biomarkers that are developed using resting-state functional magnetic resonance imaging (rs-fMRI) data are expected to contribute to more effective treatment for psychiatric disorders. Unfortunately, no widely accepted biomarkers are available at present, partially because of the large variety of analysis pipelines for their development. In this study, we comprehensively evaluated analysis pipelines using a large-scale, multi-site fMRI dataset for major depressive disorder (MDD).

A Strategy to Develop Zirconia Nanoparticle-Binding Antibodies That Can Easily Cross-Link Nanoparticles by Grafting Even Insoluble Functional Peptides.

Inorganic material-binding proteins are valuable tools for conjugating different inorganic materials. The development of efficient methods for obtaining high-affinity inorganic material-binding proteins is desirable. In this study, focusing on ZrO, which is available in the medical field as a dental material and a nanocapsule to encapsulate anticancer substances due to its high biocompatibility, we first isolated the peptides ZrOBPa and ZrOBPn, which bind ZrO nanoparticles using the phage display technique.

Cross-Cultural Validation of the Binge Eating Disorder Screener-7 (BEDS-7) Across 42 Countries.

Objective: This study aimed to evaluate the reliability and validity of the Binge Eating Disorder Screener-7 (BEDS-7) across 42 countries and 26 languages, assessing its reliability and validity as a screening tool for binge-eating disorder (BED) in diverse cultural contexts. Specifically, it sought to enhance early recognition of BED symptoms in primary care settings globally, contributing to a standardized framework for assessing BED.

Method: The International Sex Survey, a cross-sectional online study, was conducted in 42 countries and 26 languages.