我很好

中国肯尼迪病友会 加入

我们希望把这里建设成为中国肯尼迪病友最温馨的精神家园。QQ群号:323205881。

关于长病程肯尼迪病患者呼吸困难的一篇论文

病友黑-阿米其推荐一篇关于肯尼迪病人发病长时间后出现呼吸困难问题的国外论文。现将论文摘要翻译如下,供参考。

SBMA Patients Prone to Develop Respiratory Problems Due to Reduced Muscle Strength, Study Says

Patients with spinal and bulbar muscular1 atrophy (SBMA) may be at risk of developing respiratory complications due to a decline in the levels of genes responsible for muscle strength, according to a new study. The authors assert that monitoring the breathing decline in these patients may help provide better clinical magementan of the disease.
The study, “Decreased Peak Expiratory Flow Associated With Muscle Fiber-Type Switching In Spinal And Bulbar Muscular Atrophy,” was published in the journal PLoS One.
 At more advanced stages of the disease, SBMA patients may develop dysphagia (difficulties in swallowing) and dyspnea (shortness of breath), as well as pneumonia and respiratory failure. Thus, the management of swallowing and respiratory function is indispensable for the long-term care of these patients.
However, respiratory difficulties associated with SBMA are not well characterized, which limits the knowledge of how these processes occur in patients and how they might be managed.
 The objective of the study was to evaluate respiratory function of SBMA patients and identify the mechanisms underlying this condition, in comparison to patients with amyotrophic lateral sclerosis (ALS), another motor neuron disease in which dyspnea has been observed and well-studied.
 The study included 40 SBMA and 25 ALS male patients, as well as 15 healthy individuals, in whom researchers evaluated respiratory function (by athe peak expiratory flow, %PEF, a measure of breathing capacity, and the forced vital cap, acityFVC), motor function (using the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) or the Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS)) and muscle strength (by assessing the modified quantitative myasthenia gravis (mQMG) score, that measures muscle weakness, tongue pressure, andgrip power).
 Results indicated that %PEF and FVC were lower in SBMA patients compared to healthy individuals or ALS patients. Both parameters were found to be strongly correlated with disease duration, suggesting that both values can be biomarkers of respiratory function in SBMA patients and potentially be used to assess disease progression.SBMA patients also had substantially decreased tongue pressure and grip power (measures of fast muscle power) compared to ALS patients. This probably is associated with a reduction in the expression of genes responsible for fast muscle power, observed in SBMA patients rather than in ALS patients.
  Researchers also collected bicep muscle biopsies from two patients with SBMA and two patients with ALS to evaluate the levels of myosin heavy chain (MHC) expression and other proteins involved in muscle activity
 Results indicated that %PEF and FVC were lower in SBMA patients compared to healthy individuals or ALS patients. Both parameters were found to be strongly correlated with disease duration, suggesting that both values can be biomarkers of respiratory function in SBMA patients and potentially be used to assess disease progression.
 SBMA patients also had substantially decreased tongue pressure and grip power (measures of fast muscle power) compared to ALS patients. This probably is associated with a reduction in the expression of genes responsible for fast muscle power, observed in SBMA patients rather than in ALS patients.
 “We found that subjects with SBMA exhibited decreased %PEF, which appears to reflect the preferential involvement of fast-twitch [muscle] fibers in this disease,” the authors wrote. “Given that the leading causes of death in subjects with SBMA are pneumonia and respiratory failure, particular attention should be paid to %PEF decline during the clinical management of SBMA.”SBMA is caused by the presence of repeat portions of DNA (called CAG repeats) within the gene encoding the androgen receptor, thereby affecting men. Muscular weakness generally appears between the ages of 30-60 years. Patients start using a wheelchair 15 to 20 years after the onset of symptoms.


(译文)

肯尼迪病人因肌肉力度衰减引起的呼吸问题的发展倾向
 
   按照新的研究,肯尼迪病人可能有着由基因导致的肌肉力度衰减引起不断发展的呼吸难题。论文作者断言,对这类病人呼吸衰减的检测有可能提供较好的临床治疗方法。

   这篇研究论文“脊髓延髓肌萎缩症中与肌肉纤维型开关相关的衰减峰呼吸流”发表在一期PLoS杂志上。

   在疾病的后期,肯尼迪病人可能发展为吞咽困难以及呼吸短促,甚至出现肺炎和呼吸衰竭。因此对这类病人在吞咽和呼吸功能的护理上要长期地给予关心是十分必要的。但是,与肯尼迪病相关的呼吸困难并没有很好地研究过,因此就限制了病人是如何发生这一现象以及如何对他们进行护理的知识的了解。本研究课题的目的就是通过和渐冻人病(ALS)的比较,求解肯尼迪病人呼吸功能的问题以及深层次的识别其发生的机制。因为渐冻人的呼吸已经进行了观察和很好的研究。
   研究包括40位肯尼迪病和15位渐冻人病,还有15位健康的男性人员。研究人员测定了他们的呼吸功能(通过评定衰减峰呼吸流的百分比,呼吸能力的测量,以及强制肺活量的测量)。运动功能利用渐冻人病功能刻度或者肯尼迪病功能刻度,肌肉力度则借助于修正的重症肌无力给出的分数(mQMG)来测定肌肉的力弱程度,舌头的压力和握力。研究者还对两个肯尼迪病人和两个渐冻人病人进行了二头肌的活检,以求得肌球蛋白健康链(MHC)表达以及其它包含在肌肉活动中的蛋白的表达。
   结果表明肯尼迪病人衰减峰呼吸流百分比和强制肺活量相对于健康人甚至渐冻人都要低。发现这两个参数与发病时间长短有很强的关联。这意味着,这两个参数的数值可以作为呼吸功能好坏的生理指标,并具有以此来判断肯尼迪病发展严重程度的可能。肯尼迪病人相对于渐冻人病人大都有舌压和握力减小的症状。这可能和在肯尼迪病人中观察到的因为基因造成的快肌肉发力表达的减少有关,而渐冻人不存在这种基因。作者还发现引起肯尼迪病人死亡大都是因为肺炎和呼吸功能衰竭的原因。因此对肯尼迪病人在临床护理期间要特别地关心呼吸流衰减的问题。肌肉的萎缩通常较多发生在30-60岁之间。病人发病15-20年左右开始使用轮椅。

 


标签:

1 楼 | 2017-10-17 | 回复
0 +1
分享到
倒扣碗 倒扣碗
高级管理员
193 0 0
浏览量 回复数 收到暖心

分类: 抗病心得

只看楼主