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Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc.In both of them,the compound heterozygous mutation of NBAS gene(c.4081C>T,c.5741C>T)were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy.Conclusions It is reported two cases of HGPS caused by NBAS gene mutation.It is rare that two brothers have HGPS.
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Objective To evaluate the therapeutic effect of 5-aminolevulinic acid mediated photody-namic therapy(ALA-PDT)in combination with recombinant human interferon alpha 2b ointment on superficial basal cell carcinoma(BCC)in elderly.Methods A total of 143 elderly patients with superficial BCC was ran-domly divided into PDT group(n=72 cases)and the surgical group(n=71 cases).The patients in the two groups were given the ALA-PDT in combination with IFN-α2b and routine surgical treatment respectively .The effica-cy after treatment was observed according to surgical wound area , lesion area , recurrence and security during 1 year follow-up.Results The results displayed the complete remission rate of lesion in the PDT group was sig-nificantly higher than that in the surgical group (81.94%vs.57.75%,P0.05).During 1 year follow-up after treatment,the results showed the rate of recurrence in the PDT group was significantly lower than that in the surgical group (9.72% vs.22. 54%,P<0.05).Moreover,the mean wound area,the lesion area in the PDT group after treatment were also sig-nificantly smaller than that in the surgical group (P<0.05).Conclusion ALA-PDT in combination with IFN is an effective method with lower recurrence and minor trauma in the treatment of superficial basal cell carcino -ma.
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Aim To investigate apoptosis induced by 3,3'-diethyl-9-methylthia-carbocyanine iodide(DMTCCI) , an inhibitor of DNA primase found in our previous study, and the mechanism of DMTCCI in human myelogenous leukemia HL-60 cells. Methods HL-60 cells were cultured in RPMI-1640 medium and treated with different concentrations of DMTCCI. MTT assay was used to detect growth inhibition.Flow cytometry and DNA ladders were used to detect apoptosis. Western blotting was used to observe the expression of survivin, Bcl-xL, Bad, Bax, Bcl-2, caspase-9, caspase-3, caspase-6, PARP, DFF45 and lamin B protein. Caspase-3 activity was measured by ApoAlert Caspase-3 Assay Kit. Results DMTCCI inhibited proliferation of human leukemia HL-60 cells with IC50 value of 0. 24 μmol · L-1. The results of flow cytometry and DNA ladders showed that DMTCCI could induce apoptosis of HL-60 cells. The expression levels of protein survivin and Bcl-xL were down-regulated, Bad and Bax were up-regulated,while Bcl-2 protein had no change in response to DMTCCI treatment in HL-60 cells. Treatment of HL-60cells with DMTCCI induced the proteolytic cleavage of caspase-9, caspase-3, caspase-6, PARP, DFF45and lamin B protein. Caspase-3 activity apparently increased at 3 h and reached a peak at 12 h after exposure to 1 μmol · L-1 of DMTCCI in HL-60 cells. Conclusion DMTCCI inhibited proliferation and induced apoptosis of human leukemia HL-60 cells. Bcl-2 family proteins, survivin and caspases family proteins might playa role in the apoptosis process induced by DMTCCI.
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Aim The aim of this study is to determine effect of ST2325 on HER2/neu tyrosine kinase signal pathway and cell cycle in breast cancer BT474 cells. Methods Protein expression was detected with immunoblot analysis. Cell cycle distribution was examined using flow cytometry.Results ST2325 inhibited tyrosine phosphorylation of HER-2/neu in a dose-dependent manner with half maximal inhibition occurring at a concentration of 8.7 ?mol?L -1 without reduced HER-2/neu receptor protein expression. Activation of MAPK and AKT, downstream molecules of HER-2/neu-mediated signal transduction pathway was inhibited following exposure to ST2325. After BT474 cells were treated with different concentrations of ST2325 for 24 h, the results of flow cytometry analysis showed cell cycle arrest in G 1 phase. Western blot assay showed up-regulation of p27 protein expression and decrease of hyperphosphorylated Rb and cyclin D1 protein expression.Conclusions ST2325 inhibits HER2 tyrosine kinase phosphorylation and induces G 1 arrest in BT474 cells. Cell cycle arrest in G 1 is associated with p27 up-regulation, decrease of cyclin D1 protein and hyperphosphorylated Rb.