2013年6月,经过多年的循证之路,美国医学协会（American Medical Association,AMA）正式将肥胖定义为一种疾病,需要采取措施干预.WHO数据表明,20岁及以上的成年人中有超过14亿人超重,过去10年间,大多数欧洲国家肥胖患病率增长10％～40％...
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2013年6月,经过多年的循证之路,美国医学协会（American Medical Association,AMA）正式将肥胖定义为一种疾病,需要采取措施干预.WHO数据表明,20岁及以上的成年人中有超过14亿人超重,过去10年间,大多数欧洲国家肥胖患病率增长10％～40％,同时WHO数据提示超重和肥胖是全球引起死亡的第六大风险[1].在慢性病（如高血压、高脂血症、2型糖尿病）和心血管事件的发生发展中,肥胖扮演了重要的角色[2].每年至少有340万成年人死于超重或肥胖.另外,44％的糖尿病负担、23％的缺血性心脏病负担以及7％至41％的某些癌症负担可归因于超重和肥胖[1].
Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepip...
Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepiphyseal dysplasia,Maroteaux type (SEDM),Metatropic dysplasia (MD) and Parastremmatic *** recruited 3 families (F1,2 and 3) with congenital scoliosis and 1 family (F4) with localized digital osteopetrosis,which had not been *** this study,we aimed to further analyze the clinical,biochemical and radiographic features of the 4 families and use the next generation sequencing system to obtain the accurate genetic diagnosis for these patients.
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