HDAC3 in neurodevelopmental disorders: Molecular mechanisms and targeted intervention.

Autosomal dominant neurodevelopmental disorders are increasingly linked to genetic mutations that interfere with brain development and function. Among the genes implicated, HDAC3 plays a central role as an epigenetic regulator, maintaining chromatin structure and controlling gene expression. Mutations in HDAC3 have been associated with developmental delays, intellectual disabilities, and autism spectrum disorder.

Single-electrode electrochemiluminescence immunosensor for multiplex detection of Aquaporin-4 antibody using metal-organic gels as coreactant.

Reliable detection of Aquaporin-4 (AQP4) antibodies is crucial for diagnosing Neuromyelitis Optica spectrum disorder (NMOSD). However, cell-based assays, the most reliable approach, are limited by inadequate instruments. This study reports the use of silver metal-organic gels (Ag-MOGs) as coreactants in a single-electrode electrochemical system (SEES)-based electrochemiluminescence (ECL) immunosensor for multiplex detection of AQP4 antibodies.

Effects of intravenous pulse methylprednisolone in neuromyelitis optica during the acute phase.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is an anti-aquaporin 4 (anti-AQP4) autoantibodies-mediated idiopathic inflammatory demyelinating disease of the central nervous system. While intravenous pulse methylprednisolone (IVMP) is the recommended initial treatment option for acute onset NMOSD, its therapeutic mechanism remains unclear. We hypothesized that IVMP would reduce the expression of pro-inflammatory factors and increase the resolution of inflammation in patients with NMOSD.

Causal relationships between susceptibility and severity of COVID-19 and neuromyelitis optica spectrum disorder (NMOSD) in European population: a bidirectional Mendelian randomized study.

Background: Neurological disorders can be caused by viral infections. The association between viral infections and neuromyelitis optica spectrum disorder (NMOSD) has been well-documented for a long time, and this connection has recently come to attention with the occurrence of SARS-CoV-2 infection. However, the precise nature of the causal connection between NMOSD and COVID-19 infection remains uncertain.

Gut flora in multiple sclerosis: implications for pathogenesis and treatment.

Multiple sclerosis is an inflammatory disorder characterized by inflammation, demyelination, and neurodegeneration in the central nervous system. Although current first-line therapies can help manage symptoms and slow down disease progression, there is no cure for multiple sclerosis. The gut-brain axis refers to complex communications between the gut flora and the immune, nervous, and endocrine systems, which bridges the functions of the gut and the brain.

Exploring the cortical habituation in migraine patients based on contingent negative variation.

Introduction: Cognitive dysfunction has frequently been found in patients with migraine. The so-called contingent negative variation (CNV) and EEG power spectral densities may be the best choices to explore the underlining pathophysiology, such as cortical inhibition and habituation.

Methods: Thirty migraine patients without aura and healthy controls matched for sex, age, and education were recruited separately for CNV recording.

COVID-19 hospitalization increases the risk of developing glioblastoma: a bidirectional Mendelian-randomization study.

Background: As a result of the COVID-19 pandemic, patients with glioblastoma (GBM) are considered a highly vulnerable population. Despite this, the extent of the causative relationship between GBM and COVID-19 infection is uncertain.

Methods: Genetic instruments for SARS-CoV-2 infection (38,984 cases and 1,644,784 control individuals), COVID-19 hospitalization (8,316 cases and 1,549,095 control individuals), and COVID-19 severity (4,792 cases and 1,054,664 control individuals) were obtained from a genome-wide association study (GWAS) from European populations.

Assessment of the relationship between generalized convulsive epilepsy and systemic inflammatory regulators: a bidirectional Mendelian randomization study.

Background: Generalized convulsive epilepsy (GCE), an important subtype of epilepsy, is a syndrome of neuronal dysfunction characterized by diffuse abnormal discharge of neurons within the brain. Compounding evidence suggests a correlation between epilepsy and inflammatory factors, for instance, cyclooxygenase-2, interleukin-1β, and interleukin-6. Elevated levels of inflammatory factors have been observed in patients with epilepsy and several animal models.

Oily fish and raw vegetable consumption can decrease the risk of AQP4-positive neuromyelitis optica spectrum disorders: a Mendelian-randomization study.

Neuromyelitis optica spectrum disorders (NMOSD) are severe inflammatory disorders of the central nervous system targeting aquaporin-4 (AQP4). The risk factors for NMOSD remain to be determined, though they may be related to diet and nutrition. This study aimed to explore the possibility of a causal relationship between specific food intake and AQP4-positive NMOSD risk.

Cerebrospinal fluid protein levels are elevated 100 times in a Leptomeningeal metastasis patient: a case report and literature review.

Leptomeningeal metastasis (LM) has a high degree of malignancy and high mortality. We describe a patient admitted to hospital with acute lower extremity weakness, dysuria, and high intracranial pressure. Enhanced magnetic resonance imaging (MRI) showed extensive enhancement of the leptomeningeal and spinal meninges with multiple nodular changes and extensive fusion.

Systemic inflammatory regulators and risk of acute-on-chronic liver failure: A bidirectional mendelian-randomization study.

Inflammation plays a role in the pathogenesis of acute-on-chronic liver failure (ACLF), however, whether there is a causal relationship between inflammation and ACLF remains unclear. A two-sample Mendelian randomization (MR) approach was used to investigate the causal relationship between systemic inflammatory regulators and ACLF. The study analyzed 41 cytokines and growth factors from 8,293 individuals extracted from a genome-wide association study (GWAS) meta-analysis database involving 253 ACLF cases and 456,095 controls.

Bow Hunter's syndrome with clicking sounds: A rare etiology of transient loss of consciousness with tonic-clonic seizure.

We present the case of a young male patient experiencing a transient loss of consciousness and manifesting a seizure when he tilted his head backward. Transcranial Doppler ultrasound (TCD) and carotid artery ultrasound (CAU) examination were normal when the patient's neck was in the neutral position. However, the CAU revealed vertebral artery (VA) transient occlusion during neck rotation or backward movement.

Clinical characteristics of late-onset neuromyelitis optica spectrum disorder.

Background: Anti-aquaporin-4 (AQP-4) immunoglobulin G (IgG) is a major autoimmune antibody that contributes to the pathogenesis of neuromyelitis optica spectrum disorder (NMOSD). NMOSD often presents as disability, severe sensory impairment, and sleep disorders, which can cause anxiety and depression and further affect the quality of life. The age of onset is a key factor influencing the prognosis of NMOSD.

New natural compound inhibitors of PDGFRA (platelet-derived growth factor receptor α) based on computational study for high-grade glioma therapy.

Background: High-grade glioma (HGG) is a malignant brain tumor that is common and aggressive in children and adults. In the current medical paradigm, surgery and radiotherapy are the standard treatments for HGG patients. Despite this, the overall prognosis is still very bleak.

Milder symptoms and shorter course in patients with re-positive COVID-19: A cohort of 180 patients from Northeast China.

China experienced another widespread Coronavirus disease 2019 (COVID-19) outbreak recently caused by the Omicron variant, which is less severe but far more contagious than the other COVID-19 variants, leading local governments to focus efforts on eliminating the spread of the disease. Previous studies showed that after "recovering" from the virus, some patients could re-test positive for COVID-19 with nucleic acid tests, challenging the control of disease spread. In this study, we aimed to analyze the clinical and laboratory characteristics of re-positive COVID-19 patients in Northeast China.

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in Gene.

Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases with late-onset MMA have been rarely reported. Few reported late-onset MMA patients presented with atypical clinical symptoms, therefore, often misdiagnosed if without family history.

Comparisons of clinical phenotype, radiological and laboratory features, and therapy of neuromyelitis optica spectrum disorder by regions: update and challenges.

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating disease of the central nervous system (CNS) associated with autoantibody (ab) to aquaporin-4 (AQP4). There is obvious variation between regions and countries in the epidemiology, clinical features and management in NMOSD. Based on published population-based observation and cohort studies, the different clinical pattern of NMOSD has been seen in several geographical regions and some of these patients with NMOSD-like features do not fully meet the current diagnostic criteria, which is needed to consider the value of recently revised diagnostic criteria.

Role of Gut Microbiota in Multiple Sclerosis and Potential Therapeutic Implications.

The role of gut microbiota in health and diseases has been receiving increased attention recently. Emerging evidence from previous studies on gut-microbiota-brain axis highlighted the importance of gut microbiota in neurological disorders. Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating disease of the central nervous system (CNS) resulting from T-cell-driven, myelin-directed autoimmunity.

Gut Microbial Metabolites in Parkinson's Disease: Implications of Mitochondrial Dysfunction in the Pathogenesis and Treatment.

The search for therapeutic targets for Parkinson's disease (PD) is hindered by the incomplete understanding of the pathophysiology of the disease. Mitochondrial dysfunction is an area with high potential. The neurobiological signaling connections between the gut microbiome and the central nervous system are incompletely understood.

Case Report: Innate Immune System Challenge Unleashes Paraneoplastic Neurological Autoimmunity.

Paraneoplastic autoimmune neurological disorders reflect tumor-initiated immune responses against onconeural antigens. Symptoms and signs can affect the central and/or peripheral nervous systems, neuromuscular junction or muscle, and typically evolve subacutely before an underlying neoplasm is discovered. We describe four patients whose neurological symptoms were precipitated by potent innate immune system challenges: bladder instillation of BCG, tick bite and an "alternative cancer therapy" with bacterial extracts and TNF-α.

Mechanical ventilation in Guillain-Barré syndrome.

: Up to 30% of patients with GuillainBarré syndrome (GBS) develop respiratory failure requiring intensive care unit (ICU) admission and mechanical ventilation. Progressive weakness of the respiratory muscles is the leading cause of acute respiratory distress and respiratory failure with hypoxia and/or hypercarbia. Bulbar weakness may compromise airway patency and predispose patients to aspiration pneumonia.

Progressive Encephalomyelitis With Rigidity and Myoclonus With Thymoma: A Case Report and Literature Review.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is part of the variant type of the Stiff Person Syndrome (SPS) and is a rare neurological disease. We report here a patient with PERM who had thymoma and was positive for anti-glutamic acid decarboxylase (anti-GAD) antibodies. Her symptoms improved after treatment with hormones and gamma globulin.