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Acromicric dysplasia(AD) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and radiological characteristics. The clinical data and genetic test results of one patient with AD in our hospital were analyzed, and the clinical characteristics of this case were summarized. The main manifestations of the child were short stature, short hands and feet, mild facial dysmorphism, short and stubby metacarpals and phalanges on hand X-ray. One mutation, FBN1: c.5141T>G(p.Met1714Arg), was identified in this child, the mutation is inherited from her short mother and grandfather. AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene. It conforms to the pathogenesis of autosomal dominant genetic disease.
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Objective To study the change of levels of IL-6,IL-17,IL-23,IL-8,TNF-α and IFN-γ and their clinical significance on children with different types of Henoch-Schonlein purpura (HSP) Methods The blood specimens of 180 children with HSP as disease group and 30 health children as normal group were collected respectively.Disease group included 30 children at acute stage and 30 at convalescence stage of primary abdominal type,30 at acute stage and 30 at convalescence stage of primary non-abdominal type,30 at acute stage of secondary abdominal type,and 30 at acute stage of secondary non-abdominal type.The plasma levels of IL-6,IL-8,IL-17,IL-23,TNF-α and IFN-γ in the two groups were measured by ELISA method for comparison and analysis.Results The plasma levels of IL-6,IL-8,IL-17,IL-23 and TNF-α in disease group were higher than those in the normal group (P＜0.05).Those levels in the children at acute stage and of primary group were also found to be higher than those at convalescence stage (P＜0.05) and of secondary group (P＜0.05) respectively.Comparison of IL-6,IL-8,IL-17,IL-23 and TNF-α between abdominal type and the non-abdominal type had no significant difference (P＞0.05).The plasma level of IFN-γ in disease group was lower than those in normal group (P＜0.05).The levels of IFN-γ in the children at acute stage and of primary group were lower than those at convalescence stage (P ＜0.05) and of the secondary group (P ＜0.05) Comparison of IFN-γ between abdominal type and non-abdominal type had no significant difference (P＞0.05) Conclusions The plasma levels of IL-6,IL-8,IL-17,IL-23,TNF-o,IFN-γ show obvious changes in children with HSP,which suggests that the changes of cytokines are associated with the pathogenesis and prognosis of Henoch-Schonlein purpura.
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Objective:To establish the model of rats with UC by 2,4,6 trinitrobenzene sulfonic acid ( TNBS)/ethanol to understand the changes of IL-17,IL-23,TGF-β1,IFN-γin pathogenesis of ulcerative colitis (UC) and the impacts of mesalazine,mont-morillonite powder and clostridium on that.Methods:85 rats were divided randomly into 6 groups including the model ,mesalazine, montmorillonite,clostridium,mesalazine combined with montmorillonite powder group (15 rats per group ) and an additional control group of 10 normal rats.TNBS/ethanol was used to establish the model of rats with UC.The dosage of model, mesalazine, montmorillonite powder ,clostridium and mesalazine combined with montmorillonite powder were converted by surface area of rat and given to the rats by gastric-tube daily.All rats were executed at the 12th day of the molding and treatment ,and the blood and colon samples were collected.The content of IL-17,IL-23,TGF-β1,IFN-γwas measured in the blood by the ELISA method.The different changes of the four cytokines were compared separately.Results: ( 1 ) TNBS/ethanol was used to establish the model of rats with UC.The obvious inflammation can be observed on distal colon of rats by pathologic sections of HE stained .(2) The levels of plasma IL-17,IL-23 and IFN-γin the model,mesalazine,montmorillonite,clostridium and mesalazine combined with montmorillonite powder group were higher than ones in the control gruop (P<0.05),meanwhile,the levels of plasma TGF-β1 are lower (P<0.05).3.Comparing with the model group,the levels of plasma IL-17,IL-23 and IFN-γin the mesalazine,montmorillonite,clostridium and mesalazine combined with montmorillonite powder group were lower , and the levels of TGF-β1 were higer.The differences have statistic significative ( P<0.05).(4)Comparing the efficacy of treatment among mesalazine ,montmorillonite powder,clostridium and mesalazine combined with montmorillonite powder ,mesalazine and mesalazine combined with montmorillonite powder gets the best results ( P<0.05 ).The efficacy between montmorillonite powder and clostridium is similar.Conclusion:(1) TNBS/ethanol can be used to establish the model of rats with UC and can be successfully approved by the measurement of symptoms and pathologic investigation .(2)The IL-17,IL-23 and IFN-γare very active higher in the blood of rats with experimental ulcerative colitis induced by TNBS /ethanol, and have a positive correlation with inflammation.The TGF-β1 is in decrease in the blood of rats with colitis , and has a Negative Correlation with inflammation.(3)Mesalazine,montmorillonite powder,clostridium and mesalazine combined with montmorillonite powder may renovate the damage of inflammatory tissues of rats with experimental ulcerative colitis , and relieve the symptom of inflammation by reducing exudation of proinflammatory cytokines IL-17, IL-23 and immune regulatory cytokines IFN-γby producing the exudation of proinflammatory cytokines TGF-β1 to be good for recovery of UC.