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Epidemiologic study on current pubertal development in Chinese school-aged children
ZHU Mingqiang,FU Junfen,LIANG Li,GONG Cunxiu,XIONG Feng,LIU Geli,LUO Fei
Journal of ZheJiang University(Medical Science), 2013, 42(4): 396-402.
https://doi.org/10.3785/j.issn.1008-9292.2013.04.005
[Abstract]Objective: To survey the current status of pubertal development of Chinese children and to compare the precocious puberty prevalence of different regions. Methods: A cross-sectional epidemiological study was conducted on 18 707 children and adolescents aged 6~18 y with male/female ratio of 9 812/8 895 from 6 representative geographical areas in China,including Beijing,Tianjin,Hangzhou,Shanghai,Chongqing and Nanning.The height,weight,waist circumference (WC),hip circumference(HC) and sexual maturation states (Tanner stages:breast stages for girls and testicular volume for boys) of children and adolescents were measured.Probit analysis was used to calculate the median age and 95%confidence interval (CI) for onset of breast and testicular development.The prevalence of precocious puberty of different regions and BMI,waist circumference of different groups were compared. Results: Breast development before 8 y was observed in 2.91%of girls,and testicular volume 4 ml or more before 9 y was observed in 1.74% of boys.The median age of onset of Tanner stages 2 for breast development in girls was 9.69 y (95%CI:9.63~9.75); the median age of onset of puberty as indicated by Tanner stages 2 for testicular development in boys was 11.25 y (95%CI:11.19~11.30).The prevalence of precocious puberty (43 girls and 37 boys) was 0.43% (80/18 707).The prevalence of precocious puberty in northern region was higher than that in southwest region(0.736% vs 0.282%,P<0.05).There was no difference in onset age of precocious puberty in girls among three regions; but the onset age of precocious puberty in boys was earlier in east China [(7.4±0.28)y].The SD values of BMI and waist-to-hip ratio (W/H) in precocious puberty children were higher than those in the peer normal children.There was no difference in BMI,waist circumference and waist-to-hip ratio in the precocious puberty children among different regions. Conclusions: The current diagnostic criteria of precocious puberty are suitable for the children in the survey areas.The prevalence and the onset age of precocious puberty are various in different regions.A positive association between obesity and precocious puberty is found both in boys and girls.
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HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff diseas
WU Tongfei,LI Xiyuan,WANG Qiao,LIU Yupeng,DING Yuan,SONG Jinqing,ZHANG Yao,YANG
Journal of ZheJiang University(Medical Science), 2013, 42(4): 403-410.
https://doi.org/10.3785/j.issn.1008-9292.2013.04.006
[Abstract]Objective: To investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease. Methods: The proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age of 8 months. From the age of 16 months, he presented seizures. When he was admitted at 17 months old, severe mental retardation and weakness were observed. Fundus examination revealed bilateral cherry-red spots in the macula and optic atrophy. Cranial MRI revealed abnormal signals in the thalamus, basal ganglia and white matter. Enzymatic assay and genetic testing were performed for the diagnosis. His mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene diagnosis to the fetus was performed by direct sequencing. Results: Significant deficient total β-hexosaminidase (A and B) activity in peripheral leucocytes of the patient (0.0 nmol/h/mg vs normal control, 41.9 to 135.1 nmol/h/mg) supported the diagnosis of Sandhoff disease. On his HEXB gene, two mutations were found. c.1645G-A (p.G549R) was novel. c.IVS7-48T was a reported mutation. Now, the patient was 2 years and 3 months old, with progressive general failure, severe epilepsy, blindness and hypermyotonia. Subsequently, the mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene analysis of the amniocytes was performed by direct sequencing. Both of the two mutations were not detected from cultured amniocytes. The result revealed that the fetus was not affected by Sandhoff disease. A healthy girl, the sibling of the proband, was born in term. Postnatal enzyme analysis and genetic analysis of the cord blood cells confirmed the prenatal diagnosis. Conclusion: One novel mutation on HEXB gene was identified. Prenatal diagnosis to the fetus of this family was performed by amniocytes gene analysis.
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Effect of Oxaliplatin on cell cycle of hepatocellular carcinoma cell line HepG2
GAO Jie,WANG Rui,YANG Qingling,CHEN Changjie,WU Qiong
Journal of ZheJiang University(Medical Science), 2013, 42(4): 437-442.
https://doi.org/10.3785/j.issn.1008-9292.2013.04.011
[Abstract]Objective: To investigate the effect of Oxaliplatin(L-OHP)on cell cycle in hepatocellular carcinoma cell line HepG2 and the involved mechanism. Methods: Inhibitory effect of L-OHP on the proliferation of HepG2 cells was determined by MTT assay.Cell cycle distribution was shown by flow FCM.The expression levels of cyclinD1,CDK2,CDK4,p16,p21,p53 were detected by RT-PCR and Western blot. Results: MTT method revealed that L-OHP inhibited proliferation of hepatocellular carcinoma HepG2 cells in a dose- and time-dependent manner.L-OHP induced S cell cycle arrest in HepG2 cell; down-regulated the levels of CDK4,cyclinD1 and up-regulated the levels of p21,p53.There were no significant changes of CDK2 and p16 after L-OHP treatment. Conclusions: L-OHP inhibits the proliferation of HepG2 cells by blocking cell at S stage,which may be resulted from the activity of CDK4, CyclinD1 and p21.
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Expression of EZH2 in breast cancer and its clinicopathological significance
LIU Jia,WANG Hongyan,DENG Yuan,CAO Peilong,LI Xiaofeng
Journal of ZheJiang University(Medical Science), 2013, 42(4): 443-449.
https://doi.org/10.3785/j.issn.1008-9292.2013.04.012
[Abstract]Objective: To investigate the expression of EZH2 in breast cancer and its clinicopathological significance. Methods: Eighty cases of invasive breast cancer with complete clinlcpathological data and follow- up information were enrolled in the study.The expressions of ER,PR,HER-2,CK5/6,CK14,EGFR and EZH2 proteins were detected by immunohistochemistry (IHC).The relationship of EZH2 expression with molecular subtypes and prognosis of breast cancer was analyzed. Results: In 80 cases of breast cancer,there were 49 cases of Luminal subtype,8 cases of HER-2(+) subtype,20 cases of Basal-like subtype and 3 cases of Normal breast-like subtype.The molecular subtypes of breast cancer were associated with menopausal status of patients.Luminal subtype had the highest overall survival rate,while the Basal-like carcinomas were associated with the lowest survival (P<0.05).The overall EZH2-positive expression rate was 45.00% and the expression was correlated with axillary lymph node metastasis,histological grading and clinical staging of breast cancer (P<0.05).The EZH2-positive expression rates in Luminal subtype,HER-2(+) subtype and Basal-like subtype of breast cancers were 34.6%,50.0% and 70.0%,respectively (P<0.05). Conclusion: Positive expression of EZH2 may indicate a poor prognosis of breast cancer patients and it might be used as a novel therapeutic target for breast cancer of Basal-like subtype.
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Correlation of neurochemical metabolism with memory function in young adult patients with first-episode depression studied with proton magnetic resonance spectroscopy
LIU Weibo,YU Hualiang,JIANG Biao,ZHENG Leilei,YU Shaohua,PAN Bing,YU Risheng
Journal of ZheJiang University(Medical Science), 2013, 42(4): 450-455.
https://doi.org/10.3785/j.issn.1008-9292.2013.04.013
[Abstract]Objective: To investigate the correlation of neurochemical metabolism in hippocampus with memory function in young adult patients with first-episode depression. Methods: Twenty patients with first-episode depression (patient group) and fifteen health subjects (control group) were enrolled in the study.The neurochemical metabolism,including the levels of N-acetylaspartate (NAA),Choline (Cho),Creatine (Cr),Myoinositol (mI) were measured by proton magnetic resonance spectroscope (1H-MRS) in bilateral hippocampus.Wechsler Memory Scale (WMS) were used to examine the memory function in both groups. Results: The memory quotient (89.15±6.62) of patient group was significantly lower than that of controls (P<0.01),the scores of long-term memory,short-term memory and immediate memory in patients were also lower than those of controls (P<0.05 or 0.01).In patient group,the ratio of NAA/Cr(1.34±0.08)in the left hippocampus was significantly lower than that of control group (P<0.01); and the ratio of mI/Cr in the bilateral hippocampus \[(0.63±0.13) in left and (0.6±0.1) in right\] was significantly higher than those in control group (P<0.05).In patient group,the ratio of NAA/Cr in the left hippocampus was positively correlated with WMS scores (P<0.01),and the ratio of mI/Cr in the left hippocampus was negatively correlated with WMS scores (P<0.05). Conclusion: The memory deficit and abnormal metabolism function of neuron cell in hippocampus coexist in young adult patients with first-episode depression,and the lower NAA/Cr and higher mI/Cr ratio in the left hippocampus may result in the memory deficit.
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17 articles
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