Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome-PHTS; Malan Syndrome-NFIX; and SYNGAP1-related disorder-SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases.

Evaluating the validity of testimony: The role of the order of evidence.

Legal practitioners sometimes ask psychologists to evaluate the validity of statements of victims, witnesses, and suspects. For their assessment, psychologists often have access to different pieces of evidence (e.g.

Oxygen-dependent alternative mRNA splicing and a cone-specific motor protein revealed by single-cell RNA sequencing in hypoxic retinas.

Restricted oxygen supply in the aging eye may lead to hypoxic conditions in the outer retina and contribute not only to physiological aging but also to nonhereditary degenerative retinal diseases. To understand the hypoxic response of specific retinal cell types, we performed single-cell RNA sequencing of retinas isolated from mice exposed to hypoxia. Significantly upregulated expression of marker genes in hypoxic clusters confirmed a general transcriptional response to hypoxia.

The environmental neuroactive chemicals list of prioritized substances for human biomonitoring and neurotoxicity testing: A database and high-throughput toxicokinetics approach.

There is a diversity of chemicals to which humans are potentially exposed. Few of these chemicals have linked human biomonitoring data, and most have very limited neurotoxicity testing. Of particular concern are environmental exposures impacting children, who constitute a population of heightened susceptibility due to rapid neural growth and plasticity, yet lack biomonitoring data compared to other age/population subgroups.

The point of no return in the Emotional Stop-Signal Task: A matter of affect or method?

An affective variant of the Stop-Signal task was used to study the interaction between emotion and response inhibition (RI) in healthy young participants. The task involved the covert presentation of emotional faces as go stimuli, as well as a manipulation of motivation and affect by inducing a negative mood through the assignment of unfair punishment. In the literature on emotion and RI, there are contrasting findings reflecting the variability in the method used to calculate the RI latency, namely the Stop-Signal Reaction Time (SSRT).

Epilepsy surgery education and practice around the globe: An ILAE taskforce report.

Up to 80% of the world's population with epilepsy lives in low and middle-income countries. Around one-third of these patients will have drug-resistant epilepsy, for which epilepsy surgery is an option. Unfortunately, many of these regions, as well as some more developed nations, lack sufficient epilepsy surgery units and trained neurosurgeons.

The impact of emotional valence on the spatial scope of visual selective attention.

The brain's ability to prioritize behaviorally relevant sensory inputs (i.e., targets) while ignoring irrelevant distractors is crucial for efficient information processing.

Islet-derived exosomal miR-204 accelerates insulin resistance in skeletal muscle by suppressing sirtuin 1: An in vivo study in a mouse model of high-fat diet-induced obesity.

Aims: The interaction between pancreatic islets and skeletal muscle plays a pivotal role in the development of insulin resistance. The present study aimed to elucidate the impact of non-hormonal molecules from islets on the insulin sensitivity of skeletal muscle cells.

Materials And Methods: We developed a mouse model of obesity through a high-fat diet, assessing glucose tolerance and conducting miRNA sequencing on skeletal muscle samples.

Structure-guided design of a peripherally restricted chemogenetic system.

Designer receptors exclusively activated by designer drugs (DREADDs) are chemogenetic tools for remotely controlling cellular signaling, neural activity, behavior, and physiology. Using a structure-guided approach, we provide a peripherally restricted Gi-DREADD, hydroxycarboxylic acid receptor DREADD (HCAD), whose native receptor is minimally expressed in the brain, and a chemical actuator that does not cross the blood-brain barrier (BBB). This was accomplished by combined mutagenesis, analoging via an ultra-large make-on-demand library, structural determination of the designed DREADD receptor via cryoelectron microscopy (cryo-EM), and validation of HCAD function.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patients enrolled in specialized rare disease research studies. The data, consented for broad research use, are harmonized and analyzed with CRDC-supported variant interpretation tools.

The anterior insula engages in feature- and context-level predictive coding processes for recognition judgments.

Predictive coding mechanisms facilitate detection and perceptual recognition, thereby influencing recognition judgements and, broadly, perceptual decision-making. The anterior insula (AI) has been shown to be involved in reaching a decision about discrimination and recognition, as well as to coordinate brain circuits related to reward-based learning. Yet, experimental studies in the context of recognition and decision-making, targeting this area and based on formal trial-by-trial predictive coding computational quantities, are sparse.

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.

Just a SNP away: The future of massively parallel reporter assay.

The human genome is largely noncoding, yet the field is still grasping to understand how noncoding variants impact transcription and contribute to disease etiology. The massively parallel reporter assay (MPRA) has been employed to characterize the function of noncoding variants at unprecedented scales, but its application has been largely limited by the context. The field will benefit from establishing a systemic platform to study noncoding variant function across multiple tissue types under physiologically relevant conditions.

Personalized progression modelling and prediction in Parkinson's disease with a novel multi-modal graph approach.

Parkinson's disease (PD) is a complex neurological disorder characterized by dopaminergic neuron degeneration, leading to diverse motor and non-motor impairments. This variability complicates accurate progression modelling and early-stage prediction. Traditional classification methods based on clinical symptoms are often limited by disease heterogeneity.

Robot-assisted stylomastoid foramen puncture and radiofrequency ablation for hemifacial spasm treatment: clinical outcomes and technique assessment.

Objective: Stylomastoid foramen (SMF) puncture with radiofrequency ablation (RFA) is a minimally invasive therapy for hemifacial spasm (HFS) with notable therapeutic outcomes. Conventionally, this procedure is performed under CT guidance. The present study highlights the authors' preliminary clinical experience with robot-assisted SMF puncture in 7 patients with HFS using a neurosurgical robot.