Autism

A machine learning classifier to identify and prioritise genes associated with murine cardiac development.

Congenital heart disease (CHD) is a major cause of infant mortality and presents life-long challenges to individuals living with these conditions. Genetic causes are known for only a minority of types of CHD. Discovering further genetic causes is limited by challenges in prioritising candidate genes. We examined a wide range of features of mouse genes, including sequence characteristics, protein l...

Precision imaging and evolving therapies in paragangliomas and pheochromocytomas: from molecular diagnostics to imaging-guided management.

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors originating from neural crest-derived chromaffin tissue, marked by clinical heterogeneity and substantial genetic underpinnings. With up to 70% of cases linked to germline or somatic mutations, including Succinate DeHydrogenase genetic alterations (SDHx), and Von Hippel-Lindau (VHL), genetic profiling is central to diagnos...

Spectral CT imaging in colorectal cancer: current applications, limitations, and future perspectives.

Colorectal cancer (CRC) is the third most common malignancy worldwide, and early detection is vital to prevent metastasis and postoperative recurrence...

Effects of Lactiplantibacillus plantarum on moderate dyslipidemia before medication involving gut microbiota and host genetics.

In this 12-week trial, 136 participants with moderately dyslipidemia were randomly assigned to receive Lactiplantibacillus plantarum (LP) or placebo. ...

Digital transformation of Jiangxiangxing Baijiu production: integrating flavor compound analysis, machine learning recognition, and genetic algorithm blending of multi-rounds.

The blending of Jiangxiangxing Baijiu is achieved through the specific proportional blending of base liquors from distinct distillation rounds, charac...

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Myhre syndrome (MYHRS) is an ultra-rare, progressive multisystem disorder caused by recurrent heterozygous missense variants in the SMAD4 gene, a cent...

Programming Next-Generation Synthetic Biosensors by Genetic Circuit Design.

Synthetic biology employs engineering principles to construct genetic circuits with customized functionality, empowering unprecedented control over bi...

Genetic Diagnosis and Discovery Enabled by Large Language Models.

Artificial intelligence (AI) has been used in many areas of medicine, and large language models (LLMs) have shown potential utility for various clinic...

Importance of genetic ancestry in pharmacogenomics for precision medicine.

Genetic ancestry refers to an individual's biogeographical origins inferred from correlated allele frequencies shared with individuals from similar an...

Decoding cortical folding with deep learning: toward neurodevelopmental biomarkers of psychiatric disorders.

Deep Learning Artificial Intelligence and Restriction Spectrum Imaging for Patient-level Detection of Clinically Significant Prostate Cancer on Biparametric Magnetic Resonance Imaging.

BACKGROUND AND OBJECTIVE: Our aim was to evaluate whether combining the maximum restriction score derived from restriction spectrum imaging (RSIrsmax)...

Identifying genome-by-childhood trauma interactions for depression using a forest-based approach in the UK Biobank and Adolescent Brain Cognitive Development Study.

Depression is shaped by both genetic and environmental factors, but genome-wide interaction studies (GWIS) often lack power to detect complex gene-env...

Multiple neural networks from cognition to motivation of prosocial behaviour in rodents: Potential mechanism between empathy and autism spectrum disorder.

Prosocial behaviour, as a facet of social behaviour across species, entails voluntary actions that benefit others, including helping and comforting be...

Screening for Tumor Microtube-Targeting Drugs Identifies PKC Modulators as Multipotent Inhibitors of Glioblastoma Progression.

UNLABELLED: Glioblastomas are incurable primary brain tumors that depend on neural-like cellular processes, tumor microtubes (TM), to invade the brain...

Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease.

BACKGROUND: Congenital heart disease (CHD) affects about 1% of births and is linked to differences in thinking and learning. Understanding how birth, ...

Prediction of CSF Intervention in Fetal Ventriculomegaly via Artificial Intelligence-Powered Normative Modeling.

BACKGROUND AND PURPOSE: Fetal ventriculomegaly (VM) is common and largely benign when isolated. However, it can occasionally progress to hydrocephalus...

An automated detection system of autism spectrum disorder using meta-heuristic approach of adaptive LSTM with bayesian learning technique.

Autism spectrum disorder (ASD) is one of the major neurological symptoms affecting young children. Most neurological diseases are captured through spe...

Meconium metabolomic profiling dysregulation and neonatal brain injury in selective fetal growth restriction.

BACKGROUND: Meconium serves as a valuable biological matrix for characterizing fetal metabolic signatures throughout gestation. Selective fetal growth...

Biological aging across the metabolic dysfunction-associated steatotic liver disease spectrum: A systematic review.

BACKGROUND AND AIMS: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health burden. Geroscience posits that accel...

Utilizing optical coherence tomography and machine learning to identify vision abnormalities in pediatric neurofibromatosis type 1 patients.

Neurofibromatosis type 1 (NF-1) is a genetic disorder associated with a high risk of vision loss in children. Optical coherence tomography (OCT) provi...