Exploring the pathophysiological mechanisms and wet biomarkers of disease.

disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare autosomal recessive genetic disorder caused by loss-of-function variants in the VPS13A gene, which is currently the only known pathogenic gene for ChAc. VPS13A protein is a member of novel bridge-like lipid transfer proteins family located at membrane contact sites, forming direct channels for lipid transport.

Suppression of JNK pathway protects neurons from oxidative injury via attenuating parthanatos in glutamate-treated HT22 neurons.

Oxidative stress causes diverse neurological disorders. Parthanatos is a type of programmed cell death, characterised by strong activation of poly (ADP-ribose) (PAR) polymerase-1 (PARP-1), PAR polymer accumulation, and nuclear translocation of apoptosis-inducing factor (AIF), and is involved in cellular oxidative injury. Signalling by c-Jun-N-terminal protein kinase (JNK) is activated by reactive oxygen species (ROS), and this also contributes to ROS production.

Family cohesion and quality of life significantly affecting personality changes in adult epilepsy patients: a case-control study.

Objective: The goal of epilepsy treatment is not only to control convulsive seizures but also to improve the quality of life of patients. This study aimed to investigate personality changes and the risk factors for their development in adult epilepsy patients.

Methods: A case-control study in a Class III, Class A hospital.

Exploring causal correlations between systemic inflammatory cytokines and epilepsy: A bidirectional Mendelian randomization study.

Background: Inflammation plays a role in the development and advancement of epilepsy, but the relationship between inflammatory cytokines and epilepsy is still not well understood. Herein, we use two-sample Mendelian randomization (MR) to examine the causal association between systemic inflammatory cytokines and epilepsy.

Methods: We conducted a bidirectional two-sample MR analysis based on genome-wide association study data of 41 serum cytokines from 8293 Finnish individuals with various epilepsy subtypes from the International League against Epilepsy Consortium.

Effect of intranasal and oral administration of levetiracetam on the temporal and spatial distributions of SV2A in the KA-induced rat model of SE.

To investigate the effectiveness of nasal delivery of levetiracetam (LEV) on the distributions of synaptic vesicle protein 2 isoform A (SV2A) in epileptic rats with injection of kainic acid (KA) into amygdala. A total of 138 rats were randomly divided into four groups, including the Sham surgery group, the epilepsy group (EP), and the LEV oral administration (LPO) and nasal delivery (LND) groups. The rat intra-amygdala KA model of epilepsy was constructed.

Modified Manual Chest Compression for Prevention and Treatment of Respiratory Depression in Patients Under Deep Sedation During Upper Gastrointestinal Endoscopy: Two Randomized Controlled Trials.

Background: We aimed to determine the preventive and therapeutic efficacy of modified manual chest compression (MMCC), a novel noninvasive and device-independent method, in reducing oxygen desaturation events in patients undergoing upper gastrointestinal endoscopy under deep sedation.

Methods: A total of 584 outpatients who underwent deep sedation during upper gastrointestinal endoscopy were enrolled. In the preventive cohort, 440 patients were randomized to the MMCC group (patients received MMCC when their eyelash reflex disappeared, M1 group) or control group (C1 group).

The JAK-STAT Signaling Pathway in Epilepsy.

Epilepsy is defined as spontaneous recurrent seizures in the brain. There is increasing evidence that inflammatory mediators and immune cells are involved in epileptic seizures. As more research is done on inflammatory factors and immune cells in epilepsy, new targets for the treatment of epilepsy will be revealed.

Circulating malondialdehyde level in patients with epilepsy: A meta-analysis.

Purpose: Malondialdehyde (MDA) is an oxidative stress marker that determines the impact of oxidation on MDA levels in patients with epilepsy (PWE) and healthy controls.

Methods: A meta-analysis was performed on 15 published studies. A total of 559 PWE and 853 healthy controls were included to evaluate the MDA levels in erythrocytes, serum, and plasma, respectively.

Spontaneous Spinal Epidural Hematoma Complicated by Pulmonary Embolism During Pregnancy: A Case Report.

Background: Spontaneous spinal epidural hematoma, without discernable underlying conditions, is considered a neurological emergency, and is rare during pregnancy.

Case Presentation: We report the case of a 24-year-old patient at 37 weeks of gestation. She had back pain that progressed to paraplegia of both lower limbs within 2 days.

Migraine and the risk of dementia: a meta-analysis and systematic review.

Objectives: To conduct a comprehensive systematic review and meta-analysis to explore the correlation between migraine and the risk of dementia.

Methods: The PubMed, EMBASE, and Cochrane library databases were searched systematically. We selected cohort studies (prospective and retrospective) and case-control studies that reported migraine in patients with dementia, including vascular dementia.

Influence of nanoparticle size on blood-brain barrier penetration and the accumulation of anti-seizure medicines in the brain.

Anti-seizure medicines constitute a common yet important modality to treat epilepsy. However, some of them are associated with serious side effects including hepatotoxicity and hypersensitivity. Furthermore, the blood-brain barrier (BBB) is an insurmountable obstacle for brain drug delivery.

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

The present study explored the clinical characteristics and prognostic factors of epilepsy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Thirty-four MELAS patients were included in the present study. They were diagnosed by clinical characteristics, genetic testing, muscle biopsy, and retrospective analysis of other clinical data.

Cerebral venous sinus thrombosis and subdural hematoma in a female patient with systemic lupus erythematosus: a case report and literature review.

Cerebral venous sinus thrombosis (CVST) and subdural hematoma (SDH) are extremely rare in patients with systemic lupus erythematosus (SLE), and when conditions are severe, it can endanger the life of the patients. We report a case of a 44-year-old woman who was admitted to our hospital due to multiple paroxysmal headaches, dizziness, and seizures for 20 days. In the past 2 years, she had severe thrombocytopenia.

Colchicine poisoning complicated by medulla oblongata myelinolysis: a case report.

Medulla oblongata myelinolysis is an extremely rare manifestation of extrapontine myelinolysis (EPM). Herein, we report a case of a 34-year-old man with a history of gout who presented repeated vomiting and diarrhea after ingesting 15 colchicine pills. A hyponatremia diagnosis was given and after an intensive treatment, his serum sodium level increased from 118 to 129 mmol/L within 24 hours.

Disseminated histoplasmosis in primary Sjögren syndrome: A case report.

Background: Sjögren syndrome (SS) is a chronic and systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands. And histoplasmosis is an invasive mycosis caused by the saprophytic dimorphic fungus . In patients with primary SS (PSS), disseminated histoplasmosis (DH) is extremely rare.

Recurrent Cerebral Infarctions in Primary Sjögren Syndrome: A Case Report and Literature Review.

Recurrent cerebral infarctions are extremely rare in patients with primary Sjögren syndrome. We report a 66-year-old woman who was admitted to our hospital due to acute cerebral infarction with exacerbation of dysphagia and right-sided hemiplegia as the main symptoms. In the past 3 months, she had developed cerebral infarction twice, even though she had no risk factors for atherosclerosis.

The c-Jun N-terminal kinase signaling pathway in epilepsy: activation, regulation, and therapeutics.

Epilepsy affects approximately 50-70 million people worldwide and 30-40% of patients do not benefit from medication. Therefore, it is necessary to identify novel targets for epileptic treatments. c-Jun N-terminal kinase (JNK) is a member of the mitogen-activated protein kinase (MAPK) family that activates diverse substrates, such as transcriptional factors, adaptor proteins, and signaling proteins, and has a wide variety of functions in both physiological and pathological conditions.