Autism

AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull.

Artificial intelligence (AI) is increasingly applied in diagnostic imaging to enhance pattern recognition and support clinical decision-making. In 2024, Google introduced Med-Gemini-3D, a multimodal platform capable of interpreting 3-dimensional computed tomography scans and generating radiologist-level reports. Although not yet approved for independent clinical use, such systems may assist in ide...

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

BackgroundMyotonic Dystrophy Type 1 (DM1), the most common genetic neuromuscular disorder in adults, poses significant challenges for drug development due to its multisystem nature and high clinical variability in symptoms and disease progression. With a growing number of therapies entering clinical trials, this study addresses the urgent need for biomarkers that can serve as surrogate endpoints.M...

Using Latent Dirichlet Allocation Topic Modeling to Uncover Latent Research Topics and Trends in Renal Cell Carcinoma: Bibliometric Review.

BACKGROUND: Renal cell carcinoma (RCC) is a common, often lethal kidney cancer that originates in the renal cortex. Its incidence is rising, and major...

Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.

In eukaryotes, most genes produce multiple transcript isoforms that diversify the transcriptome and proteome, serving as a key mechanism of functional...

Towards contrast- and pathology-agnostic clinical fetal brain MRI segmentation using SynthSeg.

Magnetic resonance imaging (MRI) has played a crucial role in fetal neurodevelopmental research. Structural annotations of MR images are an important ...

Alzheimer's disease prediction via an explainable CNN using genetic algorithm and SHAP values.

Convolutional neural networks (CNNs) are widely recognized for their high precision in image classification. Nevertheless, the lack of transparency in...

Biometric Data in Post-Traumatic Stress Disorder Detection: A Scoping Review of Digital Health Applications.

CONTEXT: Post-traumatic stress disorder (PTSD) is mainly assessed through self-reports and clinician interviews, which can delay recognition and limit...

Genetic relationships between the gut microbiota and prostate cancer: Mendelian randomization combined with bioinformatics analysis.

BACKGROUND: Prostate cancer (PCa) is a leading cause of male cancer-related death globally. While the gut microbiota is linked to PCa, its genetic ass...

Fetal Sleep: A Cross-Species Review of Physiology, Measurement, and Classification.

STUDY OBJECTIVES: Fetal sleep is a vital yet underexplored aspect of prenatal neurodevelopment. Its cyclic organization reflects the maturation of cen...

A Boruta-SMOTE Integrated Approach for Rapid Donkey Breed Classification Using SNP Data: Addressing High-Dimensionality and Small Sample Challenges.

With the increasing complexity of genomic data, traditional classification methods face dual challenges of the "curse of dimensionality" and class imb...

Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorder.

PURPOSE: There are no specific guidelines for posterior cranial fossa decompression (PCFD) in asymptomatic Chiari Malformation Type I (CM-I) patients ...

Ultra-high-throughput mapping of genetic design space.

Massively parallel genetic screens have been used to map sequence-to-function relationships for a variety of genetic elements1-5. However, as these ap...

Cutting-Edge AI Technologies in Skin Cancer Applications.

The rapid development of multimodal large language models (LLMs) such as GPT and Med-PaLM is reshaping medical practice. Skin cancer, one of the most ...

Recent advances in the neurogenomics of autism spectrum disorder.

Neurogenomics has provided exceptional insights into the genetic architecture underlying autism spectrum disorder (ASD), which is increasingly underst...

A causal bidirectional selective state space model for imaging genetics in neurodegenerative diseases.

Brain imaging genetics aims to uncover the pathological mechanisms and improve the diagnosis of brain diseases, particularly neurodegenerative disorde...

Empowering caregivers of individuals with autism spectrum disorder through sensor-based monitoring of emotional dysregulation: A scoping review.

OBJECTIVE: This paper critically reviews existing work in sensor-based emotional dysregulation monitoring to support caregivers of individuals diagnos...

Machine learning and causal inference applied to the gut metagenome-metabolome axis reveals a link between neonatal jaundice and autism spectrum disorder.

UNLABELLED: Neonatal jaundice (NJ) might increase the risk of autism spectrum disorder (ASD) in children. This study examined whether alterations in t...

Engagement, preference and identity: Proposing a developmental engagement framework.

Understanding how adolescents participate in science requires examining the developmental foundations of engagement and identity formation. This theor...

Unraveling stress-adaptation pathways in cancer: Functional dissection through CRISPR-based genetic screens.

Cancer cells face a hostile microenvironment characterized by hypoxia, nutrient deprivation, endoplasmic reticulum (ER) stress, and oxidative imbalanc...

Artificial Intelligence for Genetic Cancer Risk Assessment in Gynecologic Oncology: A Review of the Current Landscape and Future Directions.

Hereditary cancer syndromes are associated with up to 25% of ovarian and 5% of endometrial cancers, yet rates of genetic testing and counseling remain...