Objective To explore the role of miR-184 in Oxygen-Glucose-Deprivation (OGD) induced SK-N-SH cell ischemic injury and its regulation on AKT2 level. Method We used a combination of oxygen and glucose deprivation to imitate ischemic conditions in vivo. MiR-184 mimic and inhibitor were transfected into SK-N-SH cell to alter miR-184 levels. The expression of miR-184 and AKT2 were determined by using Real-time PCR. The extent of SK-N-SH cell survival rate was assessed by thiazolyl blue tetrazolium bromide (MTT) assay. Result Here, we observed that miR-184 was significantly inhibited in SK-N-SH cell after OGD (P<0.05). The changes of miR-184 level altered the expression of AKT2 mRNA. In addition, alteration of miR-184expressionsignificantly affected cell survival rate after OGD. Conclusion miR-184 plays an important role in ischemic injury through negatively regulating AKT2 level, which may provide a potential therapeutic target for ischemic stroke in miRNA levels.

Objective:To explore the clinical features of immunoglobulin-G4-related hypertrophic pachymeningitis (IgG4-RHP).Methods:A retrospective analysis on clinical data of a patient with clinically probable IgG4-RHP diagnosed and treated in Yichang First People's Hospital in October 2021 was performed. The clinical data of 45 patients with clinically probable or diagnosed IgG4-RHP publicly reported in journals at home and abroad from October 2012 to October 2022 were retrieved from CNKI, Wanfang Database, and PubMed.Results:Among the 46 patients, 32 were male and 14 were female. The onset age was 55.50, ranged 15-86 years. The most common first symptoms and signs of these patients were headache (39.1%, 18/46) and visual impairment (32.6%, 15/46). All 46 patients showed meningeal enhancement on cranial MRI (plain scan+enhanced scan), usually involving in one cerebral hemisphere (37.0%, 17/46). 80% patients (32/40) had elevated serum IgG4 level, 60% patients (12/20) were combined with anti-neutrophil cytoplasmic antibody positive changes, and 73.9% patients (17/23) had abnormal changes in cerebrospinal fluid. All 30 patients who completed the brain tissue pathological biopsy showed IgG4 + plasma cell infiltration of lymph and plasma cells, accompanied by mat fibrosis, obliterated phlebitis and eosinophilic infiltration; IgG4 cells accounted for more than 40% of IgG cells, and IgG4 cells were more than 10 in each high-power view field. Among 46 patients, 1 patient died, 1 remained disabled and 6 relapsed; the prognosis of the remaining patients was good. Conclusion:IgG4-RHP mostly occurs in middle-aged subjects, without gender difference or specific clinical manifestations; headache is the most common initial symptom, unilateral hemisphere can be involved, and elevated serum IgG4 can be accompanied.

BACKGROUND: Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV). METHODS: We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development. RESULTS: We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P  = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P  = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron. CONCLUSION Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.
Child ; Humans ; Neurodevelopmental Disorders/epidemiology* ; Genetic Testing ; Phenotype ; Brain/pathology* ; Genetic Background ; SOX Transcription Factors/genetics*