MRC Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield, UK.
Dev Dyn. 2010 Jun;239(6):1901-4. doi: 10.1002/dvdy.22290.
On October 29, 2009, researchers and physicians gathered at the Sheraton Four Points Hotel in Boston for 4 days to discuss a disease called multiple hereditary exostoses (MHE). MHE is an autosomal dominant disease that is associated with mutations in two enzymes that are required for heparan sulfate (HS) synthesis. Children with the disease form numerous benign bone tumors (osteochondromas) and have >2% chance of developing chondrosarcoma. The aim of the meeting was to generate new ideas for the diagnoses, treatment, and cure of this disease. Discussions ranged from orthopedic surgical treatment and patients' personal experiences to fundamental questions in skeletal biology and the precise molecular role that HS plays in developmental signaling pathways.
2009 年 10 月 29 日，研究人员和医生齐聚波士顿喜来登福朋酒店，进行为期 4 天的讨论，主题是一种名为多发性遗传性外生性骨疣（MHE）的疾病。MHE 是一种常染色体显性遗传疾病，与两种必需酶的突变有关，这两种酶在肝素硫酸（HS）合成中起作用。患有该疾病的儿童会形成许多良性骨肿瘤（骨软骨瘤），并有超过 2%的机会发展为软骨肉瘤。本次会议的目的是为这种疾病的诊断、治疗和治愈提出新的想法。讨论内容涵盖了骨科手术治疗和患者的个人经验，以及骨骼生物学中的基本问题，以及 HS 在发育信号通路中的确切分子作用。
