Objective To build predictive model of secondary mild cognitive impairment (MCI) in patients with painful diabetic neuropathy (PDN), and analyze its apply. Methods The patients with PDN were consecutively selected from March 2013 to March 2016. The relevant clinical data were recorded, and the patients were followed up for 1 year. According to the results of follow-up, secondary MCI risk indicators were predicted, and the time window of adverse outcomes event was validated. Results A total of 82 PDN patients completed the study, and secondary MCI occurred in 16 cases. Sixty-six cases had not secondary MCI. The Cox regression model multivariate analysis results showed that the independent influencing factors of secondary MCI was course of PDN, brief pain inventory (BPI) score and neuron-specific enolase (NSE) in patients with PDN (HR = 1.238, 1.336 and 1.450; P<0.05). The secondary time window of the MCI in PDN patients with the course of PDN ≥3.367 years, BPI score≥4.704 scores and NSE ≥ 7.420 μg/L was shorter, in whom BPI score and NSE had a higher evaluation ability. Conclusions The courses of PDN, BPI score and NSE are independent influencing factors of secondary MCI in PDN patients, and the BPI score≥4.704 scores and NSE≥7.420μg/L have a higher evaluation ability.

OBJECTIVETo identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.

METHODSThe coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.

RESULTSA missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.

CONCLUSIONSThe Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.

Adolescent ; Asian Continental Ancestry Group ; Base Sequence ; Cardiomyopathy, Hypertrophic ; ethnology ; genetics ; Death, Sudden, Cardiac ; Exons ; Humans ; Mutation, Missense ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Research Design ; Ventricular Myosins

Objective To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM),and to analyze the genotype-phenotype relationship.Methods The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls.The genotype-phenotype correlation was analyzed in the family.Results A missense mutation (c.2191C>T, p.Pro731Ser) in the 20th exon of MYH7 gene was identified.This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM.Totally 13 family members carried this mutation , including 10 patients with HCM and 3 asymptomatic mutation carriers.The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure , including dyspnea , palpitations , chest pain , amaurosis or syncope.Five patients were diagnosed as HCM at the age of 16 or younger.One family member suffered sudden cardiac death.Conclusions The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.

Objective : To investigate the effects of resveratrol(Res) on fibroblast-like synoviocytes(FLS) in patients with rheumatoid arthritis(RA), and to explore the possible mechanism of Res inhibiting the release of inflammatory factors from FLS. Methods : FLS from RA patients were culturedin vitroand treated with different concentrations of Res(0, 20, 40, 80, 160, 320 μmol/L). The viability of FLS cells was detected by CCK-8 assay after 12 and 24 h. The contents of inflammatory factor interleukin-6(IL-6) and tumor necrosis factor-α(TNF-α) in cell supernatant were detected by ELISA. The expression levels of cyclic guanosine monophosphate-adenosine monophosphate synthase(cGAS) and stimulator of interferon gene(STING) were measured by Western blot; After lentivirus infection with FLS caused the cells to overexpress cGAS, the cells were divided into Control group(blank control), cGAS group(cGAS overexpression), Res+cGAS group(Res 160 μmol/L+cGAS overexpression) and Res group(Res 160 μmol/L). The expression level of STING protein in cells of each group was determined by Western blot, the viability of FLS cells in each group was detected by CCK-8, and the contents of inflammatory factor IL-6 and TNF-α in the supernatant of cells of each group were detected by ELISA method. Results : The results of CCK-8 experiment showed that under 40, 80, 160 μmol/L Res treatment, FLS viability decreased significantly after 24 h compared with blank control group(P<0.01). ELISA results showed that the contents of IL-6 and TNF-α in cell supernatant were also significantly decreased after treatment with Res of 40, 80 and 160 μmol/L(P<0.01). Meanwhile, Western blot results showed that Res could significantly decrease the protein expression levels of STING and cGAS in FLS cells after treatment of 40, 80 and 160 μmol/L(P<0.05,P<0.01). Compared with the Control group, the expression level of STING protein in FLS increased after overexpression of cGAS(P<0.05); compared with the Res group, the content of inflammatory factors in the supernatant of FLS and the expression level of STING protein in FLS significantly increased after overexpression of cGAS(P<0.01,P<0.05). Conclusion The appropriate concentration of Res can inhibit the release of inflammatory cytokines in FLS cells, which may be related to the blocking of cGAS-STING signaling pathway.