The Activation of the Microglial NLRP3 Inflammasome Is Involved in Tuberous Sclerosis Complex-Related Neuroinflammation.

Tuberous sclerosis complex (TSC) is a systemic disease caused by mutations in either the TSC1 (encoding hamartin) or TSC2 (encoding tuberin) gene, with mutations in the TSC2 gene potentially leading to more severe clinical symptoms. Neurological symptoms are a common clinical manifestation of TSC, and neuroinflammation is thought to play an important role. Glial cells are a major source of neuroinflammation, but whether microglia are involved in the activation of the NOD-like receptor protein 3 (NLRP3) inflammasome and the expression of interleukin-1β (IL-1β) in TSC patients remains unclear.

Expansion of the Epilepsy Genotype-Phenotype Spectrum: Genetic and Clinical Characterization of 288 Children with Epilepsy in China.

Background: In recent years, advancements in sequencing technology have led to a progressive increase in the proportion of epilepsy cases with genetic etiology, while simultaneously facilitating the ongoing identification of epilepsy-associated genes. To summarize the genotype-phenotype association of epilepsy patients is of great significance for the interpretation of genetic reports, clinical diagnosis and treatment and genetic counseling.

Methods: We reviewed and analyzed the trio-WES/WES results of 886 patients with unexplained epilepsy.

Psychiatric disorders with antiseizure medications in children: an analysis of the FDA adverse event reporting system database.

Background: Epilepsy is a chronic neurological disorder marked by a persistent tendency to generate seizures, leading to substantial cognitive, behavioral, and psychosocial consequences. This study investigated psychiatric disorder-related adverse events (AEs) associated with antiseizure medications (ASMs) in children using the Food and Drug Administration Adverse Event Reporting System (FAERS) database.

Methods: This study conducted a comprehensive analysis of FAERS data from 2004 to 2024, focusing on psychiatric AEs in children with epilepsy or seizures treated with ASMs.

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.

Background: Congenital disorders of glycosylation are a rare group of disorders characterized by impaired glycosylation, wherein STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex, which is crucial for protein N-glycosylation. Previous studies have reported that STT3A-CDG is caused by autosomal recessive inheritance. However, in this study, we propose that STT3A-CDG can be pathogenic through autosomal dominant inheritance.

Novel susceptibility genes for sleep apnea revealed by a cross-tissue transcriptome-wide association study.

Sleep apnea (SA) is a sleep disorder characterized by frequent interruptions in breathing during sleep and is widely recognized as a significant global public health concern. Although genome-wide association studies (GWAS) have identified several loci associated with SA susceptibility, the underlying genes and biological mechanisms remain largely unknown. A cross-tissue transcriptome-wide association study (TWAS) was performed to integrate SA GWAS summary statistics from 410,385 individuals (43,901 cases and 366,484 controls) and gene expression data from 49 distinct tissues and obtained from 838 post-mortem donors.

Revealing the links between hair metal(loids) and alterations in blood pressure among children in e-waste recycling areas through urinary metabolomics.

Hypertension is prevalent in e-waste recycling areas, and elevated blood pressure in children significantly increases the risk of hypertension in adulthood. However, the associations and toxic pathways between chronic exposure to metal(loids) and elevated blood pressure are rarely investigated. In this study, we measured the levels of 29 hair metal(loids) (chronic exposure biomarkers) and blood pressure in 667 susceptible children from an e-waste recycling area to explore their relationships.

A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine.

Background: Migraine is a common neurological disorder with a strong genetic component. Despite the identification of over 100 loci associated with migraine susceptibility through genome-wide association studies (GWAS), the underlying causative genes and biological mechanisms remain predominantly elusive.

Methods: The FinnGen R10 dataset, consisting of 333,711 subjects (20,908 cases and 312,803 controls), was utilized in conjunction with the Genotype-Tissue Expression Project (GTEx) v8 EQTls files to conduct cross-tissue transcriptome association studies (TWAS).

Ambient particulate matter exposure induces ferroptosis in hippocampal cells through the GSK3B/Nrf2/GPX4 pathway.

Epidemiological studies have established a robust correlation between exposure to ambient particulate matter (PM) and various neurological disorders, with dysregulation of intracellular redox processes and cell death being key mechanisms involved. Ferroptosis, a cell death form characterized by iron-dependent lipid peroxidation and disruption of antioxidant defenses, may be involved in the neurotoxic effects of PM exposure. However, the relationship between PM-induced neurotoxicity and ferroptosis in nerve cells remains to be elucidated.

Identification of novel proteins for sleep apnea by integrating genome-wide association data and human brain proteomes.

Background: Sleep apnea is regarded as a significant global public health issue. The relationship between sleep apnea and nervous system diseases is intricate, yet the precise mechanism remains unclear.

Methods: In this study, we conducted a comprehensive analysis integrating the human brain proteome and transcriptome with sleep apnea genome-wide association study (GWAS), employing genome-wide association study (PWAS), transcriptome-wide association study (TWAS), Mendelian randomization (MR), and colocalization analysis to identify brain proteins associated with sleep apnea.

Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.

Purpose: This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.

Methods: This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years.

Elevated serum levels of the NLRP3 inflammasome are associated with the severity of anti-NMDAR encephalitis in children.

Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common autoimmune encephalitis, mainly impacting young females and children. The involvement of the Nod-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome and related cytokines in pediatric individuals with this condition remains unclear.

Methods: We collected information from 27 children who had anti-NMDAR encephalitis and 12 individuals with non-inflammatory neurological disorders as controls.

A Nomogram to Predict Bacterial Meningitis-associated Hydrocephalus: A Single-Center Retrospective Study.

Objective: We aimed to develop a predictive nomogram for the early detection of hydrocephalus in children with bacterial meningitis.

Methods: This retrospective study was based on data of children with bacterial meningitis admitted to our hospital between January 2016 and December 2020. Risk factors were evaluated using univariate analysis, and the predictive model/nomogram was built using binary logistic analysis.