Autism

The VP1 Protein of Foot-and-Mouth Disease Virus: Bridging Pathogenicity and Control Strategies.

The Foot-and-mouth disease virus (FMDV) is a highly contagious pathogen affecting cloven-hoofed animals. Its major structural protein, VP1, serves as a core target that governs viral pathogenicity and the host immune response. The distinctive structure and functions of VP1 are therefore crucial for developing vaccines and effective control strategies. This review systematically examines the multif...

EJHF expert consensus statement on the diagnosis and management of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiac disease and a leading cause of heart failure, arrhythmia, and sudden cardiac death in both young and older adults. This consensus document was developed by a multidisciplinary panel of European and U.S. experts in HCM, imaging, electrophysiology, genetics, and heart failure. While it aligns with the 2023 ESC and 2024 AHA/ACC g...

ADHD identification from real-life recorded video.

Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder that affects more than 10% of the population. Accurate and early diag...

Offspring genetic diversity regulates rearing experiences that predict differential susceptibility to Chd8 haploinsufficiency.

Loss-of-function mutations in the autism-associated CHD8 gene are highly penetrant for trait and behavioral abnormalities in children, but there is su...

Computational Model for Predicting Optimal Clinical Intervention in Pre-Operative Neonates with Transposition of the Great Arteries.

PURPOSE: Transposition of the Great Arteries (TGA) is a congenital heart defect characterized by the abnormal positioning of the pulmonary artery over...

Identification of PTPRR gene associated with cirrhosis and sarcopenia based on bioinformatics and machine learning.

BACKGROUND: Cirrhosis and sarcopenia frequently coexist and are associated with poor clinical outcomes; however, their shared genetic basis remains in...

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data.

OBJECTIVE: To evaluate a novel image-based deep learning method for the automated identification of inherited retinal diseases (IRDs) and to explore t...

Prenatal serotonin reuptake inhibitor exposure and maternal depression symptoms are associated with altered fetal brain and placental development.

Maternal mental health is associated with fetal neurodevelopment. Identifying effective treatments for maternal psychiatric conditions is a public hea...

Auditory brainstem response abnormalities in autism spectrum disorder: A deep learning approach to characterize time-frequency signatures.

BACKGROUND: While Auditory Brainstem Response (ABR) provides a non-invasive window into auditory brainstem function, prior studies of ASD have primari...

Symbolically Regressing Fish Biomass Spectral Data: A Linear Genetic Programming Method With Tunable Primitives.

Machine learning techniques play an important role in analyzing spectral data. Fish biomass spectral data is useful in fish production as it carries k...

Brain-age defines a structural signature of outcomes after vagus nerve stimulation in children.

INTRODUCTION: Outcomes following vagus nerve stimulation (VNS) are difficult to predict prior to surgery in pediatric drug-resistant epilepsy (DRE). W...

Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAA receptors and GABA transporter 1.

This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with ...

Bringing environment back into human evolution: why human genetics needs genome-environment association studies.

Understanding the genetic basis of human adaptation to environmental pressures is a central question in evolutionary biology. Recent advancements in g...

Sensory processing differences and behavioural problems in children with autism: a retrospective study using statistical modelling and multi-output machine learning.

BACKGROUND: Sensory processing differences (SPDs) are common in children with autism, yet their specific contributions to behavioural problems remain ...

Mitochondrial Gene Signature Reveals Novel Diagnostic Biomarkers for Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) pathogenesis remains unclear, with mitochondrial dysfunction implicated as a key contributor. Reliable mitochondrial-re...

Machine learning-based prediction of proximal junctional pathology after adult spinal deformity surgery: a systematic review and diagnostic test accuracy meta-analysis.

BACKGROUND: Proximal junctional kyphosis (PJK) and failure (PJF) remain challenging and incompletely predictable adverse event following adult spinal ...

A Machine-Learning Assisted Genetic Risk Score Identifies Improved Weight Loss After Endoscopic Sleeve Gastroplasty.

BACKGROUND AND AIMS: Obesity remains an epidemic associated with significant health consequences. Endoscopic sleeve gastroplasty (ESG) can lead to sig...

Less is more? A hybrid machine learning and psychometric approach to identifying clinically relevant psychopathology in Chinese youth using the Child Behaviour Checklist.

OBJECTIVE: Screening for psychiatric risk in youth at the population level is often constrained by resource limitations and lengthy assessment tools. ...

Genetics of bipolar disorder: Translating discoveries to biological insights and clinical decision support.

Bipolar disorder (BD) is a clinically heterogenous mental disorder with a diversity in clinical trajectories and treatment response. Twin studies have...

Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome.

Understanding the genetic regulation of circulating protein levels can provide new insights into disease mechanisms. Here, we present the largest prot...