MicroRNA-33 regulates the synaptic plasticity-related gene ARC in temporal lobe epilepsy.

This study aimed to elucidate the expression patterns of miR-33 and ARC in both a rat model of temporal lobe epilepsy (TLE) and human TLE patients, to explore the role of miR-33 in epilepsy onset through its regulation of ARC expression in the hippocampus. Our findings, supported by a Dual-Luciferase reporter assay, suggest that miR-33 can bind to the 3' UTR region of ARC. We observed that miR-33 levels were reduced at 1 hour and 60 days post-seizure, while ARC expression notably increased at these time points.

Th1/Th2 Imbalance in Peripheral Blood Echoes Microglia State Dynamics in CNS During TLE Progression.

Central and systemic inflammation play pivotal roles in epileptogenesis and proepileptogenesis in temporal lobe epilepsy (TLE). The interplay between peripheral CD4 T cells and central microglia orchestrates the "systemic-central" immune response in TLE. However, the precise molecular mechanisms linking central and systemic inflammation in TLE remain unknown.

Assessing the impact of industrial intelligence on urban carbon emission performance: Evidence from China.

With the growing emphasis on sustainable development, there has been increasing attention given to measures aimed at promoting environmental improvements and reducing carbon emissions, including the adoption of intelligent industry. Recent studies have analyzed the influence of industrial intelligence on urban carbon emission performance while ignore the spatial spillover effects and lack in-depth discussion of the mechanisms, which reduces the reliability of the assessment of industrial intelligence's impact on carbon emission performance. To address this issue, the paper examines direct effect, spatial spillover effects, and mechanisms, utilizing a balanced panel data from 2008 to 2019 for 238 Chinese cities.

Machine Learning Predictive Model for Septic Shock in Acute Pancreatitis with Sepsis.

Objective: Acute pancreatitis (AP) progresses to septic shock can be fatal. Early identification of high-risk patients and timely intervention can prevent and interrupt septic shock. By analyzing the clinical characteristics of AP with sepsis, this study uses machine learning (ML) to build a model for early prediction of septic shock within 28 days of admission, which guided emergency physicians in resource allocation and medical decision-making.

Differences in whole-brain metabolism are associated with the expression of genes related to neurovascular unit integrity and synaptic plasticity in temporal lobe epilepsy.

Purpose: Temporal lobe epilepsy (TLE) is a common, polygenic epilepsy syndrome that involves glucose hypometabolism in the epileptogenic zone. However, the transcriptional and cellular signatures underlying the metabolism in TLE remain unclear.

Methods: In this retrospective study, 2-[F]-fluoro-2-deoxy-D-glucose ([F]FDG) positron emission tomography (PET) scans of TLE patients (n = 104) who underwent anterior temporal lobectomy were consecutively collected between 2016 and 2021.

Mechanisms and Functions of Activity-Regulated Cytoskeleton-Associated Protein in Synaptic Plasticity.

Activity-regulated cytoskeleton-associated protein (Arc) is one of the most important regulators of cognitive functions in the brain regions. As a hub protein, Arc plays different roles in modulating synaptic plasticity. Arc supports the maintenance of long-term potentiation (LTP) by regulating actin cytoskeletal dynamics, while it guides the endocytosis of AMPAR in long-term depression (LTD).

Clinical Reasoning: A 14-Year-Old Girl With Reversible Peripheral Neuropathy and Encephalopathy.

A 14-year-old girl presented with acute ascending, symmetric numbness, and flaccid paralysis 3 weeks after a suspected gastrointestinal infection. She had experienced anorexia since this gastrointestinal episode. EMG showed a sensorimotor axonal polyneuropathy.

Regional integration and public healthcare environment: Evidence from China.

Introduction: Existing studies have focused on the impact of economic development and urban expansion on public healthcare environment but has ignored the importance of regional integration. Regional integration reflects the spatial distribution of the labor force, which significantly affects healthcare workforce and healthcare infrastructure development.

Methods: Based on panel nested data for 137 cities in 16 major city clusters in China from 2001 to 2019, this paper assesses the impact of regional integration on the public healthcare environment through a hierarchical linear model (HLM).

How Does Environmental Information Disclosure Affect Public Health? Evidence from the New Ambient Air Quality Standards.

Using a quasi-natural experiment of the implementation of the new Ambient Air Quality Standards in China, this paper assessed the impact of environmental information disclosure on public health. Our empirical results showed that environmental information disclosure (EID) largely improved both physical health and mental health. Moreover, we further investigated the air pollution channel, and the empirical results showed that EID could reduce the concentration of PM, which could cause an increase in public health as the concentration of PM decreases.

Altered cerebellar-motor loop in benign adult familial myoclonic epilepsy type 1: The structural basis of cortical tremor.

Objective: Cortical tremor/myoclonus is the hallmark feature of benign adult familial myoclonic epilepsy (BAFME), the mechanism of which remains elusive. A hypothesis is that a defective control in the preexisting cerebellar-motor loop drives cortical tremor. Meanwhile, the basal ganglia system might also participate in BAFME.

Clinical features of -related neuronal intranuclear inclusion disease.

Background: Abnormal expanded GGC repeats within the gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of -related NIID in China.

Methods: Patients with -related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.

Cohen syndrome in two patients from China.

Background: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early-onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease is rarely reported.

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.

DNAH14 variants are associated with neurodevelopmental disorders.

Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental sciences. Rapid developments in sequencing techniques have made it possible to identify new disease-causing genes. Our study aimed to identify novel genes associated with NDDs.

Subcellular-Targeted Near-Infrared-Responsive Nanomedicine with Synergistic Chemo-photothermal Therapy against Multidrug Resistant Cancer.

Multidrug resistance (MDR) is a major obstacle to effective cancer treatment. Therefore, developing effective approaches for overcoming the limitation of MDR in cancer therapy is very essential. Chemotherapy combined with photothermal therapy (PTT) is a potential therapeutic option against MDR.

Genome-Wide DNA Methylation Pattern in Whole Blood Associated With Primary Intracerebral Hemorrhage.

Primary intracerebral hemorrhage (ICH) is a significant cause of morbidity and mortality throughout the world. ICH is a multifactorial disease that emerges from interactions among multiple genetic and environmental factors. DNA methylation plays an important role in the etiology of complex traits and diseases.

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.

Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1.

The gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional change in a single gene can cause so many different phenotypes remain unknown. Moreover, there is significant controversy as to whether these distinct phenotypes represent the same disease continuum or mutation-specific disorders.

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.

The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collected. Genomic DNA was isolated from the peripheral blood samples of all available members.

Does coal-to-gas policy reduce air pollution? Evidence from a quasi-natural experiment in China.

Whether the use of cleaner energy can reduce air pollution is the focus of debate among scholars, but there is still no unanimous conclusion. This study seeks to explore the net impact of coal-to-gas policy, an energy transition policy in China, on air pollution. Utilizing prefecture-level city data from 2003 to 2016, we apply the PSM-DID method to estimate the policy's net impact.

iTRAQ-Based Proteomic Analysis of Dentate Gyrus in Temporal Lobe Epilepsy With Hippocampal Sclerosis.

Temporal lobe epilepsy (TLE) is the most frequent type of focal epilepsy in adults, typically resistant to pharmacological treatment, and mostly presents with cognitive impairment and psychiatric comorbidities. The most common neuropathological hallmark in TLE patients is hippocampal sclerosis (HS). However, the underlying molecular mechanisms involved remain poorly characterized.