Skeletal Dysplasia: establishing metabolic & nutritional requirements to manage health risks

有些人生来就患有一种阻止骨骼以正常方式生长的疾病。这方面的医学术语是骨骼发育不良，但通常被称为侏儒症。大多数人注意到这会导致胳膊和腿变短，但没有意识到许多其他可能限制生活质量的健康问题(例如，由于脊柱变化而进行的头骨、颈部和背部手术造成的呼吸困难，骨骼不能很好地结合的关节疼痛，以及在为高个子设计的世界中移动的额外困难)。如果一个人变得超重或肥胖，所有上述问题都会变得更糟。这一点很重要，因为骨骼发育不良的人比那些平均身高的人更有可能增加体重。骨骼发育不良的人也更有可能患上威胁生命的疾病，如2型糖尿病和心脏病。没有人知道为什么身材过矮会导致这些问题。代谢率很可能解释了身体脂肪水平和健康指标之间的联系--但还没有科学研究在这一独特的人群中进行过这些测量。之所以没有这方面的研究，是因为拥有必要技能的科学家还没有接触到一大批骨骼发育不良患者。我们的研究团队已经联系了几个主要的慈善机构来做这项工作，这样我们就可以非常准确地测量代谢率和大量人对一顿饭的代谢反应。一旦人们恢复正常的生活方式，我们还将使用尖端的可穿戴技术来监控饮食和体力活动水平，这样我们就可以完全了解他们每天摄入和消耗的能量。这些测量的一个好处是，它们将揭示对骨骼发育不良患者来说，代谢健康的身体脂肪的范围。这一点很重要，因为简单地检查体重或体重指数(即适合你身高的体重)的健康范围的通常方法不能很好地工作，除非身体的所有部位都是正常的尺寸和形状。因此，患有骨骼发育不良的人目前无法知道他们是否应该减肥，如果是的话，什么是适合他们的饮食和体力活动。

Some people are born with a condition that prevents their bones from growing in the usual way. The medical term for this is skeletal dysplasia but it is often known as dwarfism. Most people notice that this results in short arms and legs but are unaware of the many other health problems that can limit quality of life (e.g. breathing difficulties due to changes in the skull, neck and back operations due to changes in the spine, joint pain where bones do not fit together well and so extra difficulties moving around in a world designed for taller people). All the above problems can be made worse if a person becomes overweight or obese. This is important because people with skeletal dysplasia are more likely to gain weight than those who are average height. People with skeletal dysplasia are also then more likely to become ill with life-threatening diseases like type 2 diabetes and heart disease. Nobody knows why being extremely short would cause these problems. It is likely that metabolic rate might explain the links between body fat levels and health markers - but no scientific research has ever made these measurements in this unique group of people. The reason there is no research in this area is that scientists with the necessary skills have not had access to a large group of people with skeletal dysplasia. Our research team has linked with several major charities to do just that, so we can measure metabolic rate and the metabolic response to a meal very accurately from a large number of people. We will also then use cutting-edge wearable technology to monitor diet and physical activity levels once people return to their normal lifestyles, so we can understand completely how much energy they take in and use on a daily basis. One benefit of these measurements is that they will reveal the range of body fat that is metabolically healthy for a person with skeletal dysplasia. This is important because the usual ways to do this by simply checking the healthy range for body weight or body mass index (i.e. the right weight for your height) does not work well unless all parts of the body are the usual size and shape. Individuals with skeletal dysplasia therefore currently have no way to know whether they should lose weight and, if so, what would be an appropriate diet and physical activity for them.