Objective:To elucidate the correlation between peripheral blood levels of pentraxin 3 (PTX3) and fibroblast growth factors 2 (FGF2) and clinical manifestations, immunological indexes and disease activity of systemic lupus erythematosus (SLE) patients.Methods:The correlation between peripheral blood levels of PTX3 and FGF2 and clinical manifestations, immunological indexes and disease activity of SLE pa-tients was determined. T test, Mann-Whitney U test and Spearman's rank correlation coefficient were analyzed statistically. Results:Plasma PTX3 levels were significantly higher in SLE patients than in healthy controls (3 191±2 423) pg/ml vs (755±432) pg/ml, t=5.595, P<0.01) . The titer of PTX3 in patients with hematologic in-volvement was higher than that in the patients without [(3 810±2 840) pg/ml vs (2 493±1 830) pg/ml, t=2.008, P=0.049). Plasma PTX3 concentration in SLE patients was positively correlated not only with the level of 24 h urine protein ( r=0.498 6, P=0.005 9), but also with ESR ( r= 0.376, P=0.007) and systemic lupus erythematosus disease activity index (SLEDAI) scores ( r=0.405, P=0.003). On the contrast, plasma PTX3 concentration in SLE patients was negatively correlated with complement 3 ( r=-0.405, P=0.005). Increased serum PTX3 levels accompanied by increased serum FGF2 levels was observed. Plasma FGF2 concentration in SLE patients was positively correlated with SLEDAI scores ( r=0.326, P=0.019), but negatively correlated with level of comple-ment 3 ( r=-0.414, P=0.004) and complement 4 ( r=-0.451, P=0.007). Levels of FGF2 were higher in patients with positive anti-NuA antibody [(138±91) pg/ml vs (59±68) pg/ml, t=2.996, P=0.004 2), anti-dsDNA antibody [(120±96) pg/ml vs (56±58) pg/ml, t=3.583, P=0.000 7] and anti-rRNP antibody (151±109) pg/ml vs (63±61) pg/ml, t=3.757, P=0.000 4) than in patients with negative of these antibodies. Conclusion:The levels of PTX3 and FGF2 in peripheral blood may play a role in determining the disease activity and clinical phenotype of SLE, and can help doctors to make diagnosis and treatment decisions.

Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.