Autism

Examining Genetic Variants Associated with FOXP1 Syndrome through Molecular Dynamics of Its DNA-Binding Domain and Self-Organizing Maps.

Genetic mutations in the transcription factor FOXP1 (forkhead box protein P1) cause an autosomal dominant neurodevelopmental disorder called FOXP1 syndrome. To understand the structural impact of pathogenic variants associated with FOXP1 syndrome, we investigated the conformational changes resulting from six distinct missense variants in FOXP1 by combining molecular dynamics simulations, molecular...

Generalization of Left Ventricular Segmentation Models to LVNC Patients: A Comparative Study.

Left ventricular non-compaction (LVNC) is a rare cardiomyopathy with distinctive myocardial morphology. Due to its low prevalence, LVNC cases are rarely included in public cardiac datasets, hindering the development of specialized deep learning segmentation models. This study aims to systematically evaluate the generalization capability of state-of-the-art models, trained on public, multi-disease ...

Conserved and divergent gene regulatory networks for crop drought resistance.

Understanding crop drought resistance mechanisms is critical for enhancing resilience to intensifying climate change. However, the conserved and diver...

Hybrid experimental-machine learning framework for media optimization enhances antioxidant production in Micrococcus endophyticus SS-1.

Culture medium composition is a key determinant of microbial antioxidant production, yet systematic optimization remains challenging due to nonlinear ...

Using technology to support children with dyscalculia in pre-primary and primary school: insights, challenges and opportunities.

PURPOSE: Developmental Dyscalculia (DD) is a specific neurodevelopmental learning disability that significantly impairs an individual's ability to lea...

Cell-type-specific causal effects of CEBPD in CD8 + S100B + Tcells and ZFP36 in monocytes modulate the protective and risk phenotypes in psoriasis.

Psoriasis is a chronic immune-mediated inflammatory skin disease characterized by dysregulated keratinocyte proliferation, immune cell infiltration, a...

Cell type-agnostic transcriptomic signatures enable uniform comparisons of neural maturation.

Understanding where a cell sits along developmental time is as important as identifying its type. While single-cell transcriptomics has catalogued the...

Integrating Next-Generation Sequencing into von Willebrand Disease Diagnostics: Insights from the PCM-EVW-ES Multicenter Project.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by quantitative or qualitative defects in von Willebrand factor (V...

Parental Perspectives on Oral Health Care for Autistic Children With Medicaid: A Qualitative Study.

Children with special health care needs and disabilities (CSHCND), particularly those with autism, experience disproportionately high rates of oral he...

Unveiling gene perturbation effects through gene regulatory networks inference from single-cell transcriptomic data.

Physiological and pathological processes are governed by networks of genes called gene regulatory networks (GRNs). By reconstructing GRNs, we can accu...

Predicting adult functional outcomes in childhood-onset attention-deficit/hyperactivity disorder using multimodal MRI and machine learning: A prospective follow-up study.

Attention-deficit/hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder that often persists into adulthood, leading to extens...

Integrated transcriptomic and clinical analysis of autism spectrum disorder reveals structured heterogeneity and links Methyl-CpG Binding Domain Protein 2 expression with symptom severity.

AIM: Autism spectrum disorder (ASD) remains underexplored in Southeast Asia, with limited characterization of its molecular underpinnings and clinical...

MRI-based spatio-temporal atlas of ganglionic eminence.

OBJECTIVE: Fetal brain magnetic resonance imaging (MRI) provides insights into the architecture of the human brain. Recently, an increasing interest h...

AI-based autism identification from hyperspectral imaging detection of oxidative stress in pediatric red blood cells.

BACKGROUND: Oxidative stress (OS) plays a key role in many pathologies, yet the non-invasive, label-free, and cost-effective detection remains a chall...

A global perspective on autoimmunity and immunodeficiency: exploring geoepidemiology trends.

Autoimmune and primary immunodeficiency disorders represent a growing global health burden influenced by a complex interplay of genetic, environmental...

Evaluating the heterogeneous treatment effects of major depression polygenic risk scores on self-harm using causal forest.

BACKGROUND: Self-harm, defined as non-fatal self-inflicted harm regardless of suicidal intent, is a critical global health issue influenced by the int...

Generative AI in disability-inclusive learning: a bibliometric and systematic literature analysis.

Generative Artificial Intelligence (GenAI) has rapidly permeated education, with growing implications for disability-inclusive practice. Objective: Th...

Exploring Metabolic Changes in Children with Congenital Hypothyroidism: A Serum Metabolomic Study Combined by Machine Learning.

Congenital hypothyroidism (CH) is a genetic endocrine disorder that can cause developmental delays if it is untreated. In this study, NMR-based metabo...

Data-driven modelling of tau pathology reveals distinct progressive supranuclear palsy subtypes.

Progressive supranuclear palsy (PSP) is a heterogeneous neurodegenerative disease characterised by the accumulation of misfolded 4-repeat tau within n...

Comorbidity-aware transfer learning for neuro-developmental disorder diagnosis.

Neurodevelopmental disorders (NDDs) are characterized by impairments in cognition, communication, behavior, and adaptive functioning, placing increasi...