Analysis of 21 Patients With Alcoholic Marchiafava-Bignami Disease in Chongqing, China.

Objective: This study aimed to investigate the characteristics and prognosis of patients with alcoholic Marchiafava-Bignami disease (MBD), a rare neurological disorder commonly associated with chronic alcoholism, in Chongqing, China.

Methods: We conducted a retrospective analysis of clinical data from 21 alcoholic MBD patients treated at the First Affiliated Hospital of Chongqing University between 2012 and 2022.

Results: The study included 21 patients with alcoholic MBD who had a mean age of 59 ± 9.

Linear porokeratosis of the foot with dermoscopic manifestations: A case report.

Background: Porokeratosis (PK) is a common autosomal dominant chronic progressive dyskeratosis with various clinical manifestations. Based on clinical manifestations, porokeratosis can be classified as porokeratosis of mibelli, disseminated superficial porokeratosis, disseminated superficial actinic porokeratosis, linear porokeratosis (LP), porokeratosis palmaris et plantaris disseminata, porokeratosis punctata, popular PK, hyperkeratosis PK, inflammatory PK, verrucous PK, and mixed types. We report a case of LP in a child and describe its dermoscopic findings.

Clinical and antibodies analysis of anti-GQ1b antibody syndrome: a case series of 15 patients.

Objectives: To investigate the clinical manifestations, immunity, laboratory test, treatment and prognosis of patients with anti-GQ1b antibody syndrome in Chongqing, China.

Methods: We reviewed 15 patients with positive anti-ganglioside antibodies in the First Affiliated Hospital of Chongqing Medical University from 2016 to 2019.

Results: Fifteen patients were included in the study (mean age, 54.

Echinoderm microtubule-associated protein -like protein 5 in anterior temporal neocortex of patients with intractable epilepsy.

Objectives: EMAP-like Protein 5 (EML5) is a new echinoderm microtubule-associated protein that is expressed in the central nervous system. The aim of this study was to investigate the expression profile of EML5 in the anterior temporal neocortex of patients presenting with intractable epilepsy (IE).

Materials And Methods: Western blot assays were performed to determine EML5 expression in 36 surgically resected anterior temporal neocortices of patients with IE and eight control tissues.

Fibronectin is a potential cerebrospinal fluid and serum epilepsy biomarker.

Purpose: Previous studies have demonstrated that fibronectin (FN) levels are increased in brain tissues from patients and animals with epilepsy. This study aimed to assess FN levels in cerebrospinal fluid (CSF) and serum samples from patients with epilepsy.

Methods: Fibronectin levels were assessed in CSF and serum samples from 56 patients with epilepsy (27 and 29 individuals with intractable epilepsy and nonintractable epilepsy, respectively) and 25 healthy controls, using sandwich enzyme-linked immunosorbent assays (ELISA).

Is intractable epilepsy a tauopathy?

Tau exists in neuronal axons and glial cells of the central nervous system and contributes to the maintenance of the unique cell morphology. It functions in axon elongation, cell polarity formation and microtubule stabilization. Aggregates and hyper-phosphorylated tau proteins are classical components of neurofibrillary lesions in numerous neurodegenerative disorders, which are called "tauopathies".

A new hypothesis of drug refractory epilepsy: neural network hypothesis.

Drug refractory is an important clinical problem in epilepsy, affecting a substantial number of patients globally. Mechanisms underlying drug refractory need to be understood to develop rational therapies. Current two prevailing theories on drug refractory epilepsy (DRE) include the target hypothesis and the transporter hypothesis.

Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model.

Gephyrin, which is a postsynaptic scaffolding protein participated in clustering GABA(A) receptors at inhibitory synapses, has been reported to be involved in temporal lobe epilepsy (TLE) recently. Here, we investigate gephyrin protein expression in the temporal lobe epileptic foci in epileptic patients and experimental animals in order to explore the probable relationship between gephyrin expression and TLE. Using immunohistochemistry, immunofluorescence, and western blot analysis, gephyrin expression was examined in 30 human temporal neocortex samples from patients who underwent surgery to treat drug-refractory TLE and 10 histological normal temporal neocortex from the controls.

[Epidemiologic study on patients with invasive fungal infections].

Objective: To investigate the epidemiological features of patients with nosocomial invasive fungal infection.

Methods: Fungi in blood were identified by BacT ALERT 3D, other clinical samples were cultured by Sabouraud's dextrose agar (SDA) medium. Candidas were isolated and identified by CHRO Magar candida color medium.

Abnormal expression and spatiotemporal change of Slit2 in neurons and astrocytes in temporal lobe epileptic foci: A study of epileptic patients and experimental animals.

Repellent guidance molecules provide targeting information to outgrowing axons along predetermined pathways during development. These molecules may also play a role in synaptic reorganization in the adult brain and thereby promote epileptogenesis. Our aim was to investigate the expression of Slit2, one of repellent guidance molecules, in temporal lobe epileptic foci from epileptic patients and experimental animals.

Gene expression analysis on anterior temporal neocortex of patients with intractable epilepsy.

To elucidate the molecular basis of intractable epilepsy (IE), we used a whole-genome transcriptomic approach to identify genes involved in the pathogenesis of this disease. Using a complementary DNAs microarray representing 4096 human genes, we analyzed differential gene expression in the anterior temporal neocortex (ATN) of IE patients relative to control patients who had an operation to relieve head trauma-related intracranial pressure. The results were validated by real-time fluorescence-quantitative polymerase chain reaction (FQ-PCR) and reverse transcription-PCR (RT-PCR).

[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy].

Objective: To report the clinical and genetic study of a new Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE).

Methods: The living affected members underwent a full clinical, neurophysiological, electroencephalogram (EEG), and magnetic resonance imaging (MRI) study. Genetic analysis was performed by LGI1 DNA sequence analysis.

Up-regulation of epithelial membrane protein-1 in the temporal neocortex of patients with intractable epilepsy.

Epithelial membrane protein-1 (EMP-1), called Tumor-associated membrane protein, is the marker of a drug-resistant tumor and take part in the drug-resistant mechanism of tumor, with the relationship of epidermal growth factor receptor (EGFR). Because there are some similarities between the pathogenesis and the drug resistance mechanism of tumor and the drug resistance mechanisms in epilepsy. EMP1 expression may be connected with the drug-resistance mechanism of epilepsy.

Efficacy and safety of levetiracetam (3,000 mg/Day) as an adjunctive therapy in Chinese patients with refractory partial seizures.

Aim: To evaluate the efficacy and safety of 3,000 mg daily levetiracetam (LEV; Keppra) as an adjunctive therapy for Chinese patients with refractory partial seizures.

Methods: This randomized, placebo-controlled trial consisted of an 8-week baseline period followed by a 4-week titration interval and a 12-week maintenance period, and concluded with a 4-week medication withdrawal period or entered an open-label study. LEV was compared with placebo.

Proteomic analysis of cerebrospinal fluid from patients with idiopathic temporal lobe epilepsy.

Proteomic analysis of cerebrospinal fluid (CSF) from patients with temporal lobe epilepsy (TLE) and controls was carried out using two-dimensional gel electrophoresis followed by liquid chromatography electrospray ionization tandem mass spectrometry. Five protein spots showed significant differential expression (p<0.05): vitamin D-binding protein (DBP) was elevated in the CSF of TLE patients whereas cathepsin D, apolipoprotein J, Fam3c, and superoxide dismutase 1 (SOD1) were decreased in the CSF of TLE patients.

Altered expression of synaptotagmin I in temporal lobe tissue of patients with refractory epilepsy.

Synaptotagmin I is a key synaptic protein involved in both exocytosis and endocytosis. We aimed to investigate Synaptotagmin I expression in the anterior temporal neocortex of epilepsy patients, and to explore the possible role of Synaptotagmin I in refractory epilepsy. In the present study, 30 epilepsy patients were divided into refractory epilepsy and non-refractory epilepsy groups, another 15 histologically normal anterior temporal lobes from head trauma patients were used as control group.

Overexpression of N-WASP in the brain of human epilepsy.

Neuronal circuit remodeling is the most critical pathological characteristic closely associated with the initiation and maintenance of epilepsy; however, the exact mechanisms of neuronal remodeling need further elucidation. Neuronal Wiskott-Aldrich syndrome protein (N-WASP) is a key regulator of the actin cytoskeleton that causes actin polymerization and thus neurite extension. Our previous research demonstrated that the upstream regulator of N-WASP, cell division cycle 42 GTP-binding protein (Cdc42), is significantly upregulated in the brains of patients with intractable epilepsy (IE).

Expression of laminin beta1 in hippocampi of patients with intractable epilepsy.

We investigated laminin beta1 expression in the hippocampi of patients with intractable epilepsy and explored the role of laminin beta1 in the pathogenesis of this condition. Fluorescence quantitative PCR, immunofluorescence, immunohistochemistry and Western blotting were used to measure laminin beta1 expression in surgically removed hippocampi of patients with intractable epilepsy, and the results were compared with control hippocampi. Fluorescence quantitative PCR showed increased expression of laminin beta1 mRNA in patient hippocampi compared with control tissues.

[Overexpression of the Cdc42 in the brain tissue of human with intractable temporal epilepsy].

Objective: To investigate the expression of cell division cycle 42 GTP-binding protein (Cdc42) in the brain tissue of patients with intractable temporal epilepsy and discuss its effect on epileptogenesis.

Methods: Twenty samples brain tissues were collected from the brain tissue bank of intractable temporal epilepsy established by Epilepsy Preventive and Therapeutic Center of Chongqing. The expression of Cdc42 was determined by immunohistochemistry and fluoroimmunoassay.

TDAG51 in the anterior temporal neocortex of patients with intractable epilepsy.

TDAG51 (T cell death-associated gene 51) is an apoptosis-associated protein. Our aim was to investigate TDAG51 expression in the anterior temporal neocortex of patients with intractable epilepsy (IE), and then to discuss the possible role of TDAG51 in IE. Tissue samples from the anterior temporal neocortex of 33 patients who had surgery for IE were used to detect TDAG51 expression by immunohistochemistry, immunofluorescence, and Western blotting.

HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy.

Heat Shock Protein BAP1 (heat shock 27-kDa-associated protein 1, HSPBAP1) inhibits the function of heat shock protein 27, which has a neuroprotective effect during experimentally induced epileptic neuropathology. In our study, fluorescence quantitative polymerase chain reaction, immunohistochemistry, immunofluorescence, western blot were used to test the levels of HSPBAP1 mRNA and protein in surgical samples of the anterior temporal neocortex of patients with intractable epilepsy (IE) and normal controls samples. HSPBAP1 mRNA was abnormally expressed in the anterior temporal neocortex of patients with IE.

Upregulated expression of postsynaptic density-93 and N-methyl-D-aspartate receptors subunits 2B mRNA in temporal lobe tissue of epilepsy.

Objective: To investigate the expression of PSD-93 mRNA and NR2B mRNA in the brain tissue from the patients with epilepsy so as to explore the possible mechanisms of the pathogenesis of the epilepsy.

Methods: Fifty-six patients with epilepsy were divided into intractable epilepsy (IE) and non-intractable epilepsy (NIE) groups. cDNA microarrays prepared from the brain tissues obtained from these two groups were scanned and comparison to those from the non-epileptogenic control (C) was made.

Decreased expression of thyroid receptor-associated protein 220 in temporal lobe tissue of patients with refractory epilepsy.

Purpose: TRAP220 (thyroid hormone receptor-associated protein) functions as a coactivator for nuclear receptors and stimulates transcription by recruiting the TRAP mediator complex to hormone responsive promoter regions. Thus, TRAP220 enhances the function of thyroid/steroid hormone receptors such as thyroid hormone and oestrogen receptors. This study investigated the expression of TRAP220 mRNA and protein level in epileptic brains comparing with human control.