Epigenetic Mechanisms in the Pathophysiology and Progression of Epilepsy: A Comprehensive Review of Experimental and Clinical Studies.

Epilepsy is a prevalent neurological disorder that presents with a diverse range of clinical manifestations and etiologies influenced by both genetic and environmental factors. However, traditional genetic mechanisms alone are insufficient to fully elucidate the pathogenesis of epilepsy, highlighting the increasing importance of epigenetics in epilepsy research. Several studies have demonstrated that epigenetic mechanism play a pivotal role in the development and progression of epilepsy.

Pathophysiology characterization of Alzheimer's disease in South China's aging population: for the Greater-Bay-Area Healthy Aging Brain Study (GHABS).

Introduction: The Guangdong-Hong Kong-Macao Greater-Bay-Area of South China has an 86 million population and faces a significant challenge of Alzheimer's disease (AD). However, the characteristics and prevalence of AD in this area are still unclear due to the rarely available community-based neuroimaging AD cohort.

Methods: Following the standard protocols of the Alzheimer's Disease Neuroimaging Initiative, the Greater-Bay-Area Healthy Aging Brain Study (GHABS) was initiated in 2021.

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.

TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. Thus far, merely nine patients harboring five different variants (c.

Scalp ripple rates for rapid epilepsy differentiation and seizure activity assessment: Applicability and influential factors.

Objective: We aim to determine whether automatically detected ripple rate (ADRR) of 10-min scalp electroencephalography (EEG) during slow-wave sleep can be a useful tool for rapid epilepsy differentiation and seizure activity assessment, and we analyze the clinical factors that may affect the scalp ripple rates.

Methods: We retrospectively included 336 patients who underwent long-term video-EEG with a sampling rate ≥1000 Hz, and three groups were established based on their final clinical diagnosis (non-epilepsy; non-active epilepsy [epilepsy being seizure-free for at least 1 year]; and active epilepsy [epilepsy with one or more seizures in the past year]). ADRRs between groups were compared and diagnostic thresholds set according to the maximum of Youden index with the receiver-operating characteristic curve.

[Corrigendum] HSP90 inhibits apoptosis and promotes growth by regulating HIF-1α abundance in hepatocellular carcinoma.

Subsequently to the publication of the above paper, the authors contacted the Editorial Office to explain that they had found several mistakes in Figs. 1B, 2B, 6B and 7B in their paper. The PCR results shown in Fig.

Molecular and clinical characteristics of -related diseases.

Objective: With detailed studies of -related diseases, the phenotypic spectrum of has greatly expanded. This study aimed to potentially identify the mechanisms by which caused neurological dysfunction by analyzing the clinical features and phenotypes of -related diseases, and exploring the distribution patterns of mutations in the subregions of the protein, thus providing new and effective therapeutic approaches.

Methods: Databases of PubMed, Online Mendelian Inheritance in Man, and Human Gene Mutation Database, Wanfang Data, and Embase were searched for case reports of -related diseases.

Identification of Ion Channel-Related Genes and miRNA-mRNA Networks in Mesial Temporal Lobe Epilepsy.

It aimed to construct the miRNA-mRNA regulatory network related to ion channel genes in mesial temporal lobe epilepsy (mTLE), and further identify the vital node in the network. Firstly, we identified ion channel-related differentially expressed genes (DEGs) in mTLE using the IUPHAR/BPS Guide to Pharmacology (GTP) database, neXtProt database, GeneCards database, and the high-throughput sequencing dataset. Then the STRING online database was used to construct a protein-protein interaction (PPI) network of DEGs, and the hub module in the PPI network was identified using the cytoHubba plug-in of Cytoscape software.

Red blood cell distribution width predicts in-hospital mortality in patients with a primary diagnosis of seizures in the ICU: a retrospective database study.

Purpose: The aim of this study was to determine the predictive value of red blood cell distribution width (RDW) in patients with a primary diagnosis of seizures admitted to the intensive care unit (ICU) in terms of in-hospital mortality.

Methods: This was a retrospective study of the eICU Collaborative Research Database of adult patients (aged 18-88 years) with a primary diagnosis of seizures in 2014 and 2015. The prognostic value of RDW was investigated using a receiver operating characteristic (ROC) curve, multiple logistic regression model, and net reclassification index (NRI).

Peroxisomal Dysfunction Contributes to White Matter Injury Following Subarachnoid Hemorrhage in Rats via Thioredoxin-Interacting Protein-Dependent Manner.

Background And Purpose: White matter injury (WMI) exists in the early stage of subarachnoid hemorrhage (SAH) and has not been well addressed so far.

Methods: We utilized short hairpin RNA (shRNA) and clustered regularly interspaced short palindromic repeats (CRISPR) to verify the role of peroxisomes in WMI following SAH. We evaluated short- and long-term neurobehavior after SAH.

Risk of seizure recurrence from antiepileptic drug withdrawal among seizure-free patients for more than two years.

Objective: The aim of this study was to determine the outcome of antiepileptic drug (AED) withdrawal in patients who were seizure-free for more than two years.

Methods: Patients with epilepsy who were seizure-free for at least two years and decided to stop AED therapy gradually were followed up every two months for seizure relapse. The inclusion criteria were as follows: (1) diagnosis of epilepsy, defined as the following conditions: ① at least two unprovoked (or reflex) seizures occurring >24 h apart; ② one unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years; ③ diagnosis of an epilepsy syndrome; (2) patients remained seizure-free for at least 24 consecutive months during AED therapy; and (3) patients expressed a desire to discontinue AED therapy gradually and agreed to return for regular follow-ups.

Minocycline Attenuates Experimental Subarachnoid Hemorrhage in Rats.

Backgroud: The aim of this study was to evaluate the therapeutic effect of minocycline on treating experimental subarachnoid hemorrhage (SAH) in rats and to explore its possible molecular mechanism.

Methods: SAH was induced in male Sprague-Dawley rats by endovascular perforation. The rats were treated with minocycline (25 mg/kg or 50 mg/kg) or saline at 2 hand 12 h post SAH.

Tumor Tissue Detection using Blood-Oxygen-Level-Dependent Functional MRI based on Independent Component Analysis.

Accurate delineation of gliomas from the surrounding normal brain areas helps maximize tumor resection and improves outcome. Blood-oxygen-level-dependent (BOLD) functional MRI (fMRI) has been routinely adopted for presurgical mapping of the surrounding functional areas. For completely utilizing such imaging data, here we show the feasibility of using presurgical fMRI for tumor delineation.

Early post-haemorrhagic stroke testosterone and oestradiol levels and long-term risk of death.

Objective: The influence of oestrogen and testosterone replacement on stroke risk has been examined, as well as mechanisms by which oestrogen may protect from post-stroke damage. However, whether testosterone levels in the early time period after haemorrhagic stroke influence long-term mortality has not previously been investigated. We examined whether these concentrations were predictive of risk of death.

PreSurgMapp: a MATLAB Toolbox for Presurgical Mapping of Eloquent Functional Areas Based on Task-Related and Resting-State Functional MRI.

The main goal of brain tumor surgery is to maximize tumor resection while minimizing the risk of irreversible postoperative functional sequelae. Eloquent functional areas should be delineated preoperatively, particularly for patients with tumors near eloquent areas. Functional magnetic resonance imaging (fMRI) is a noninvasive technique that demonstrates great promise for presurgical planning.

Pluronic P85-coated poly(butylcyanoacrylate) nanoparticles overcome phenytoin resistance in P-glycoprotein overexpressing rats with lithium-pilocarpine-induced chronic temporal lobe epilepsy.

P-glycoprotein (Pgp) overexpression in the blood brain barrier (BBB) is hypothesized to lower brain drug concentrations and thus inhibit anticonvulsant effects in drug-resistant epilepsy. Recently, the poly(butylcyanoacrylate) (PBCA) nanoparticle system was shown to overcome the obstacle of the BBB to deliver drugs into the brain. To determine whether pluronic P85-coated phenytoin poly(butylcyanoacrylate) nanoparticles (P85-PHT-PBCA-NPs) target PHT to the brain, PHT-resistant rats overexpressing Pgp in the BBB were screened by response to PHT treatment after chronic temporal lobe epilepsy induced by lithium-pilocarpine, followed by direct verification of PHT transport via measurement of brain PHT concentrations using microdialysis.

Bortezomib-induced severe pulmonary complications in multiple myeloma: A case report and literature review.

The proteasome inhibitor bortezomib is indicated for use in the treatment of multiple myeloma (MM) patients. The most common side effects are neurological and gastrointestinal, while severe pulmonary complications are rarely described. The present study reports the case of a 62-year-old man with immunoglobulin (Ig)G-type MM who was treated with bortezomib, thalidomide and dexamethasone.

HSP90 inhibits apoptosis and promotes growth by regulating HIF-1α abundance in hepatocellular carcinoma.

Heat shock protein (HSP)90 functions as a general oncogene by targeting several well-known oncoproteins for ubiquination and proteasomal degradation. However, the clinical significance of HSP90, as well as the mechanisms responsible for the tumor-promoting effects of HSP90 in hepatocellular carcinoma (HCC) remain unclear. In this study, HSP90 and hypoxia-inducible factor (HIF)-1α expression in 60 samples of HCC tissues and matched normal tumor-adjacent tissue were assessed using immunohistochemistry (IHC) or western blot analysis.

One-stage operation for rare multiple mirror intracranial aneurysms: a case report and literature review.

Although intracranial multiple aneurysms are not uncommon, multiple mirror aneurysms are relatively rare. A few isolated cases have been described. However, to the best of our knowledge, 3 pairs of pure symmetrical mirror aneurysms in one patient have not been reported yet.

Anterior corpus callosotomy combined with anterior temporal resection with amygdalohippocampectomy: outcome in a patient with congenital bilateral perisylvian syndrome.

Congenital bilateral perisylvian syndrome (CBPS) is characterized by epilepsy, cognitive deficits, pseudobulbar palsy and diplegia of the facial, pharyngeal and masticatory muscles. Epilepsy has been described in nearly 90% of affected patients. The epilepsy is usually severe and pharmacoresistant in about 55 percent of CBPS patients.

STE20/SPS1-related proline/alanine-rich kinase is involved in plasticity of GABA signaling function in a mouse model of acquired epilepsy.

The intracellular concentration of chloride ([Cl(-)]i) determines the strength and polarity of GABA neurotransmission. STE20/SPS1-related proline/alanine-rich kinase (SPAK) is known as an indirect regulator of [Cl(-)]i for its activation of Na-K-2 Cl(-)co-transporters (NKCC) and inhibition of K-Cl(-)co-transporters (KCC) in many organs. NKCC1 or KCC2 expression changes have been demonstrated previously in the hippocampal neurons of mice with pilocarpine-induced status epilepticus (PISE).

Anomalous expression of chloride transporters in the sclerosed hippocampus of mesial temporal lobe epilepsy patients.

The Na(+)-K(+)-Cl(-) cotransporter 1 and K(+)-Cl(-) cotransporter 2 regulate the levels of intracellular chloride in hippocampal cells. Impaired chloride transport by these proteins is thought to be involved in the pathophysiological mechanisms of mesial temporal lobe epilepsy. Imbalance in the relative expression of these two proteins can lead to a collapse of Cl(-) homeostasis, resulting in a loss of gamma-aminobutyric acid-ergic inhibition and even epileptiform discharges.

Simultaneous determination of valproic acid and 2-propyl-4-pentenoic acid for the prediction of clinical adverse effects in Chinese patients with epilepsy.

Valproic acid (VPA) is a well-established anticonvulsant drug that has been increasingly used in the treatment of many forms of generalized epilepsy. Although there are many reports of adverse effects of VPA, studies focusing on the concentration-response relationships of VPA and its metabolites in patients with epilepsy are extremely limited. In this study, a rapid and specific high performance liquid chromatography-ultraviolet (HPLC-UV) method to simultaneously detect the concentrations of VPA and its major hepatotoxic metabolite 2-propyl-4-pentenoic acid (4-ene VPA) in human plasma has been established, using 2,4'-dibromoacetophenone and octanoic acid as the derivatization reagent and internal standard, respectively.