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国家自然科学基金(81200647)

作品数:2 被引量:9H指数:2
相关作者:张敏赵琳蒋晶晶凌雁高鑫更多>>
相关机构:复旦大学更多>>
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Primary Hyperparathyroidism:A Tale of Two Cities Revisited-New York and Shanghai被引量:6
2013年
In the 1970s, with the advent of biochemical multichannel screening in the United States and other western countries, the clinical presentation of primary hyperparathyroidism (PHPT) changed from a symptomatic to an asymptomatic disorder. However, in Asian countries, like China, PHPT did not show this evolution, but rather continued to be a symptomatic disease with target organ involvement. In this paper, we revisit the clinical features of PHPT in New York and Shanghai, representative United States and Chinese cites, over the past decade. The questions we address are whether the disease evolved in China to a more asymptomatic one and, whether in the United States further changes are evident. The results indicate that while PHPT con- tinues to present primarily as an asymptomatic disease in the United States, a new phenotype characterized by normal serum calcium and high parathyroid hormone levels, normocalcemic PHPT, has emerged. Data from Shanghai demonstrates a trend for PHPT to present more commonly as an asymptomatic disorder in China. However, most patients with PHPT in China still manifest classical symptoms, i.e. nephrolithiasis and fractures. A comparison of the two cohorts shows that Chinese patients with PHPT are younger, with higher serum calcium and PTH levels, and lower 25-hydroxyvitamin D levels than patients in New York. Normocalcemic PHPT has not yet been recognized in Shanghai. In summary, although the phenotypes of PHPT in both cities are evolving towards less evident disease, sharp clinical and biochemical differences are still apparent in PHPT as expressed in China and the United States.
Jian-min LiuNatalie E. CusanoBarbara C. SilvaLin ZhaoXiao-yan HeBei TaoLi-hao SunHong-yan ZhaoWen-wei FanMegan E. RomanoGuang NingJohn P. Bilezikian
关键词:ASYMPTOMATICSYMPTOMATIC
两个von Hippel-Lindau综合征家系的临床和分子生物学研究被引量:3
2014年
目的 对2个临床诊断von Hippel-Lindau (VHL)综合征的中国人家系进行临床和分子生物学研究.方法 全面收集患者病史资料、实验室检查及影像学资料,采集患者外周血提取DNA并通过PCR扩增产物直接测序明确有无突变.结果 2个家系4例患者中3例血浆去甲苄肾上腺素均明显升高,家系1中的1例患者影像学提示双侧肾上腺占位,左肾占位,另1例患者右侧肾上腺占位,基因诊断提示VHL基因1号外显子杂合突变;家系2中患者双侧肾上腺占位,基因诊断提示VHL基因3号外显子杂合突变.结论 VHL基因突变是导致这两个家系成员发病的根本原因.
赵琳阿勒滕齐齐格蒋晶晶凌雁张敏郭剑明张立陆志强高鑫
关键词:嗜铬细胞瘤VHL综合征基因型
mTORC2和Sema3A在骨代谢中的作用研究
目的:探讨成骨细胞特异性rictor敲除小鼠骨表型改变及其机制;探讨人群血清Sema3A与骨代谢的相关性。方法:实验组采用成骨细胞特异性rictor敲除小鼠(Rictor),对照组采用Rictor小鼠,通过双能X线、mi...
刘冬梅
关键词:RICTOR骨钙素骨转换
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