Objective To explore the protective effect of brain-derived neurotrophic factor (BDNF) on cultured rat cortical neurons against glutamate (Glu)-induced injury and its mechanism. Methods Cortical neurons were primarily cultured from 1-day-old newborn Sprague-Dawley rats and then cultured for 7 d. The cortical neurons were divided randomly into 3 groups: control group,Glu group and BDNF group after identified with neuron-specific enolase (NSE) immunostaining. The cells of BDNF were treated with 50 ng/ml BDNF on day 6 for 24 h followed by cultured with 50 ?mol/L Glu for 0.5 h. While,the cells of Glu group were cultured with 50 ?mol/L Glu for 0.5 h on day 7. The control cells received no such treatments. On day 8,cell viability were determined by the colorimetric MTT assay. The morphological features of the neuron cells were observed under AO/EB fluorescence microscopy. Expressions of p75NTR,JNK and ERK were observed using Western blot analysis. Results On day 8,the primary cortical neurons grew well. BDNF protected cortical neural cells from Glu injury. Cell viability of BDNF group was (1.14?0.06),significantly higher than that of Glu group (0.72?0.10,P

Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.