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OBJECTIVE@#To detect pathogenic variant in a child featuring Usher syndrome type II.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing.@*RESULTS@#The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3).@*CONCLUSION@#The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.
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Child , Humans , Exons , Extracellular Matrix Proteins/genetics , Family , Introns , United States , Usher Syndromes/geneticsABSTRACT
OBJECTIVE To explore the immunity-enhancing effect of ABP-AW1, a low-molecular-mass polysaccharides isolated from Agaricus blazei Murill, on immunosuppressive mice. METHODS ICR mice were ip injected cyclophosphamide 80 mg · kg-1, once daily for 3 d, to establish an immuno?suppressive mouse model. Then, ABP-AW1125, 250 and 500 mg · kg-1 were ig given to the immuno?suppressive mice,respectively, once daily for 7 d. The mouse thymus index and spleen index were calcu?lated, and the phagocytic function of phagocytes was determined using carbon clearance test. Splenic lym?phocyte proliferation was measured by MTT method. The interleukin 2 (IL-2) and interferon γ (IFN-γ) production from splenic lymphocytes was examined by ELISA. The splenic lymphocyte CD4+/CD8+ratio was determined by flow cytometric analysis. RESULTS Compared with normal control group, the thymus index, spleen index and phagocytic index of phagocytes in the immunosuppressive model mice declined (P<0.05). ABP-AW1250 and 500 mg·kg-1 treatment significantly increased the thymus index, spleen index and phagocytic index in immunosuppressive mice (P<0.05). Compared with normal control group, concanavalin A (Con A) and lipopolysaccharide (LPS) induced T and B lymphocyte proliferation, respectively, and IL-2 and IFN-γproduction from splenic lymphocytes in the immunosuppressive model mice was lower (P<0.05). Compared with model group, ABP-AW1250 and 500 mg·kg-1 promoted Con A and LPS induced T and B lymphocyte proliferation (P<0.05) , and elevated IL-2 and IFN-γ production from splenic lymphocytes (P<0.05). In addition, ABP-AW1250 and 500 mg·kg-1 reversed the decreased splenocyte CD4+/CD8+ratio in immunosuppressive model mice (P<0.05). CONCLUSION ABP-AW1 has immuneity-enhancing effect on cyclophosphamide-induced immunosuppressive mice.
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BACKGROUND:Numerous studies have confirmed that neovascularization plays an important role in the growth, invasion and metastasis of tumors. OBJECTIVE:To investigate the features of CD133+ ovarian cancer stem-like cels differentiating into vascular endothelial cels. METHODS:CD133+ ovarian cancer stem-like cels were successfuly harvested from A2780 ovarian cancer cel lines using serum-free culture method, and incubatedin vitro onto 96-wel plates with or without Matrigel. Then, we observed the capacity of CD133+ ovarian cancer stem-like cels and human umbilical vein endothelial cels to form tube-like structures at different time points. Through xenograft experiments, the role of CD133+ ovarian cancer stem-like cels in the angiogenesis of ovarian cancer was observed using immunofluorescence staining. RESULTS AND CONCLUSION:CD133+ovarian cancer stem-like cels and human umbilical vein endothelial cels cultured with no Matrigel had no corresponding lumen formation, and could not express CD31. But those cultured with Matrigel had lumen formation and expressed CD31 significantly. After tumor formation, human-derived CD31 expression was observed in the tumors. These findings indicate that CD133+ ovarian cancer stem-like cels can differentiate into vascular endothelial cels, and be involved in tumor revascularization.
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Objective To investigate the expression of Brain-derived neurotrophic factor (BDNF)and its receptors mRNAs in ovary tissues of letrozole-induced polycystic ovary syndrome (PCOS)in rats.Methods The SD rats were divided into two groups (moder group and control group),20 rats in each group.The rat models of PCOS were established by letrozole.Serum sex hormone levels were determined by radioimmunoassay.The histologic changes in ovaries were observed by Hematoxylin-eosin stai-ning,and the expression of BDNF and its receptors gene in ovary tissues was detected by Real-time PCR.Results Although the se-rum testosterone,follicle-stimulating hormone and luteinizing hormone levels in model group were markedly increased more than those in the control group (P < 0.01 ),estradiol and progesterone in model group showed a considerable reduction (P < 0.05 ). When compared with the control group,model group rats showed increased ovarian volume and high incidence of subcapsular ovari-an cysts together with decreased number of corpora lutea.The expression of BDNF and p75 mRNAs was significantly higher in model group than that in the control group(P <0.05),but the expression of TrkB mRNA reduced(P <0.05).Conclusion BDNF/TrkB/p75 expressed in ovarian tissues may play a specific role on follicular developmental disorders in letrozole-induced PCOS rats.
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Background and purpose:The effective rate of ifrst-line chemotherapy for advanced lung cancer is 30%-40%. The purpose of this study was to evaluate the efifcacy and adverse effects of pemetrexed combined with carboplatin or cisplatin in the treatment of patients with advanced non-squamous non-small cell lung cancer (NSCLC). Methods:One hundrend and twenty-one patients with advanced non-squamous NSCLC were enrolled in this study and all of these patients had been conifrmed with pathology or cytology. Among the 121 cases, 60 cases were male and 61 were female, the median age was 59 years, adnenocarcinoma in 113 patients and large cell carcinoma in 8 patients. Combination regimen: patients received pemetrexed 500 mg/m2 on day 1 and carboplatin 300 mg/m2 or cisplatin 70 mg/m2 on day 1 by intravenous infusion, administrated every 3 weeks for 2 to 6 cycles. All patients who received 2 or more cycles could be evaluated. Disease control rate (DCR) was the primary end point; secondary end points included progression-free survival (PFS), 1-year survival rate and safety.Results:There was 1 case with complete response (CR), 44 cases achieved partial response (PR), 50 had stable disease (SD) and 26 cases had progressive disease (PD) in the overall cases. ORR and DCR were 37.2% (45/121) and 78.5% (95/121), respectively. The median PFS time was 5.2 months and 1-year survival rate was 59.0%. In pemetrexed combined with carboplatin group, the ORR and DCRwere 38.3% (23/60) and 78.3% (47/60), respectively; The median PFS was 5.1 months (95%CI: 3.8-6.4 month) and 1-year survival rate was 55.2%. The patients treated with pemetrexed plus cisplatin, the ORR and DCR were 36.1% (22/61) and 78.7% (48/61), respectively. Median PFS was 6.2 months (95%CI: 4.3-8.1 month) and 1-year survival rate was 62.5%. There were no statistical differences between carboplatin/pemetrexed and cisplatin/pemetrexed for both ORR, DCR, PFS and 1-year survival rate (P>0.05). The major adverse effects were leukopenia, neutropenia, fatigue and gastrointestinal reaction.Conclusion:Pemetrexed plus platinum chemotherapy could be considered as the ifrst-line treatment option for advanced non-squamous NSCLC patients. Pemetrexed combined with carboplatin/ cisplatin regimen has efifcacy with mild toxicity and better tolerability.
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10.3969/j.issn.1007-3969.2013.05.002
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Objective To study the expression and clinical significance of thyroid transcription factor-1 (TTF-1) in stage Ⅰ non-small cell lung cancer (NSCLC) after operation and to 1 investigate the values in identification of the prognosis of stage Ⅰ NSCLC.Methods The expression of TTF-1 in 129 specimens of stage Ⅰ NSCLC was detected by immunohistochemistry.Results The positive rate of TTF-1 in stage Ⅰ NSCLC was 64.3％.There were significant differences in TTF-1 expression rate among pathological subtypes (x2 =25.231,P ＜ 0.001),different ages (x2 =4.581,P =0.032),sex (x2 =4.900,P =0.027) and differentiation degrees(x2 =11.519,P =0.019).Univariate analysis suggested that in the stage Ⅰ NSCLC patients,the median disease-free survival and overall survival of those positive for TTF-1 expression were superior to those negative:38.9 months versus 27.8 months (P =0.023) and 64.10 months versus 50.68months (P =0.013).Cox regression analysis suggested that TTF-1 expression,tumor differentiation degrees were independent factors affecting the prognosis of stage Ⅰ NSCLC.Conclusion Patients with TTF-1 positive expression often had better survival.Positive expression of TTF-1 and differentiation degree of tumor were independent prognostic factors to affect the prognosis of NSCLC.
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Objective To study the cytotoxic activity of Chinese compound prescription (Xiaozheng Yiliu Decoction) combined with cisplatin on human ovarian cancer OVCAR/DDP cells and its molecular mechanism. Methods The xenograft model was established by injection of OVCAR/DDP cells. Forty nude mice were randomly allocated into four groupsincluding control group, cisplatin treatment group, low-dose Xiaozheng Yiliu plus cisplatin treatment group,and high-dose Xiaozheng Yiliu plus cisplatin treatment group.The apoptosis was determined by TUNEL analysis.The survivin expression was detected by RT-PCR analysis.Results The inhibit rates in cisplatin treatment group, low-dose Xiaozheng Yiliu plus cisplatin treatment group,and high-dose Xiaozheng Yiliu plus cisplatin treatment group,were(5.56±1.14) ％,(18.42±7.73) ％,and (31.59±12.58) ％,respectively,and there were significant differences among the groups(F=8.64,P＜0.01 ).The TUNEL analysis showed that the percentages of cell apoptosis were(2.35±1.04) ％,(4.56±1.61) ％,(12.42±3.68) ％,(21.59±5.17) ％ in four different groups,respectively.After treated by Xiaozheng Yiliu Decoction,the mRNA expression of survivin was found to be down-regulated by RT-PCR analysis. Conclusion Xiaozheng Yiliu Decoction could iucrease the cytotoxic activity of cisplatin on ovarian cancer OVCAR/DDP cells, which may be related to the down-regulation of survivin gene expression.
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Objective To observe the effect of the volatile oil of zanthoxylum bungeanum in killing demodex in vitro.Method The mites were collected with adhesive cellophane tape technique.The killing effect of the pure volatile oil with different concentrations volatile oils on human demodex was investigated by microscope.Results The pure volatile oil was highly powerful in killing D.f and D.b in vitro,and for the D.b,the killing effect was better.With the increase of dilutus multiple,the killing effect dareased.Conclusion The pure volatile oil of zanthoxylum bungeanum is an effective component in killing demodex in vitro.
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Leptin is type I cytokine detected recently.It takes part in physiological action such as energy balance, fat storage and process of metabolism,reproduction and hemopoiesis in vivo.Leptin may be an important role between adipose tissue and genital system.Lack or excessive of leptin is related to infertility in some diseases involving in nutritional status. Leptin takes part in female infertility pathogenesis in hypothalamus pituitary gland gonad axia and other respects.
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AIM: The purpose of this study was to observe the morphological features of neuroendocrine cells(NECs),their proliferation and apoptosis in ovarian epithelial tumors,and to discuss their biological and clinical significance.METHODS: 79 specimens of ovarian epithelial tumor samples were collected,of them 20 benign,18 boderline,41 milignant tumors,and 22 normal ovaries were investigated immunohistochemically.Chromogranin A was used to detect NECs and their proliferation and apoptosis were examined by double-label staining of chromogranin A and Ki67 or TUNEL.RESULTS: The positive rate of CgA,distribution and staining intensity in ovarian epithelial tumors were higher than those in normal ovary.NECs showed various shapes with neuronoid protuberances stretching to the neighboring cells or basement membrane.Occasionally,they might touch together.No TUNEL positive coexpression in all NECs was observed by double-label staining,but some NECs were coexpressed with Ki67.CONCLUSION: NECs of ovarian epithelial tumors like cancer cells showed a proliferation,but no apoptosis.Their secretion might promote their neighboring non-NECs to proliferate and prevent them from apoptosis.