Objective To study the vulnerability of astrocytes bearing mutant SOD1 under the oxidative stress.Methods The cytotoxicity of the serum deprived astrocytes was measured by MTT.The level of ROS was shown by fluorescence of DCF through confocal microscopy.The expression of Nrf2,HO1 and NQO1 in the different cells was detected by Western blot.Results The level of cellular toxicity was higher in the astrocytes bearing mutant SOD1 exposed to the oxidative stress than the astrocytes hearing wild type SOD1.In the astrocytes bearing mutant SOD1,the expression of Nrf2,HO1 and NQO1 decreased.In the presence of mutant SOD1,an unexpected 44 per-cent decrease of Nrf2 was detected.This was associated with a decreases in multiple downstream phase Ⅱ detoxif-ying enzymes and antioxidant enzymes,known as NQO1 and HO1.Furthermore,our results showed that the ex-pression of NQO1 increased 1.5 and 2.5-fold by EGCG at 5 and 10 μmol/L.EGCG also elevated the expression of total Nrf2.Confocal microscopy showed that EGCG caused Nrf2 translocation from the cytoplasm to the nucleus.Conclusion Decrease in Nrf2 expression is the mechanism to explain the vulnerability of astrocytes bearing mutant SOD1 and EGCG strengthened antioxidation function by upregulating the activity of Nrf2.

Objectives To identify the COL7A1 gene mutation in a recessive dystrophic epidermolysis bullosa (RDEB) family, and to perform prenatal diagnosis in the patient's offspring. Methods The genomic DNA, obtained from the patient and his wife, was used to screen all 118 exons of the type VII collagen gene (COL7A1) via polymerase chain reaction (PCR) followed by direct DNA sequencing of the PCR products. Fetal DNA was extracted from amniotic fluid of the patient's wife at the 15th week of gestation. PCR, direct DNA sequencing and restriction fragment length polymorphisms (RFLPs) were performed for prenatal diagnosis. Results The patient in this study was a compound heterozygote for a S48P missense mutation in exon 2 and an 11 base pair deletion (3625del11) leading to a premature termination codon (PTC) in exon 27, which are a novel combination of COL7A1 mutations in RDEB. The COL7A1 genotype of his wife was normal. In the fetus, the same deletion of 11 base pair (3625del11) was found in exon 27, but no mutation was found in exon 2. Thus, the fetus was predicted to be a clinically normal child with a carrier genotype. Seven months later, a clinically unaffected male infant was born and the prediction was confirmed. Conclusion We successfully performed the first DNA-based prenatal diagnosis in China in a family with Hallopeau-Siemens RDEB.

Objective:To explore the relationship between anxiety and mental resilience of caregivers for community-dwelling dementia patients.Methods:Patients in four communities who met the diagnostic criteria for Alzheimer's disease(AD)were randomly selected and their caregivers served as study subjects.General characteristics, anxiety and resilience of caregivers(n=592)were investigated with a questionnaire developed by ourselves, the Generalized Anxiety Disorder-7 Scale(GAD-7), and the Conner-Davidson Resilience Scale(CDRISC).Results:There were 592 subjects in the study, with 185 cases(31.3%)having anxiety.Differences in manifestations of anxiety existed between caregivers for AD patients in different age groups( P<0.01). Anxiety levels were also influenced by AD patient caregivers' gender, educational level and blood relationship to the patient( P<0.05). The differences were reflected in tenacity( F=72.58), strength( F=82.19), optimism( F=12.57)and the total elasticity score( F=162.88). The Spearman correlation was used to analyze the association of caregiver anxiety with caregivers' general characteristics and domains of psychological resilience.The results showed that anxiety was negatively correlated with gender( r=-0.09, P<0.05), education level( r=-0.112, P<0.01), blood relationship( r=-0.122, P<0.01), psychoelasticity and three other domains( r=-0.457, -0.495, -0.208, -0.60, all P<0.01), but was positively correlated with age( r=0.127, P<0.01). Logistic regression analysis showed that psychoelasticity was a protective factor for anxiety in caregivers for community-dwelling AD patients( β=-0.323, P<0.05). Conclusions:While treating Alzheimer's patients, clinicians can consider psychotherapy measures to improve the psychological resilience of their caregivers.