腓骨肌萎缩症（Charcot-Marie-Tooth disease，cMT）是一组具有高度临床和遗传异质性的单基因遗传性运动感觉神经病（hereditary motor and sensory neuropathy,HMSN）。此组疾病多于儿童和青少年时期起病，临床上以缓慢进展的对称性肢...腓骨肌萎缩症（Charcot-Marie-Tooth disease，cMT）是一组具有高度临床和遗传异质性的单基因遗传性运动感觉神经病（hereditary motor and sensory neuropathy,HMSN）。此组疾病多于儿童和青少年时期起病，临床上以缓慢进展的对称性肢体远端肌肉无力与萎缩、轻至中度末梢型感觉障碍、腱反射减弱或消失和高弓足为典型表现。展开更多
腓骨肌萎缩症（charcot marie tooth disease,CMT）是一组最常见的周围神经单基因遗传病，具有高度的临床变异性和遗传异质性。CMT患病率约为1／2500，遗传方式可为常染色体显性，常染色体隐眭和X连锁遗传。由于运动和感觉神经元均受累...腓骨肌萎缩症（charcot marie tooth disease,CMT）是一组最常见的周围神经单基因遗传病，具有高度的临床变异性和遗传异质性。CMT患病率约为1／2500，遗传方式可为常染色体显性，常染色体隐眭和X连锁遗传。由于运动和感觉神经元均受累，多年前被归属于遗传性运动感觉神经病（hereditary motor and sensory neuropathy,HMSN）。自1991年发现由17号染色体短臂11．2区（17p11．2）1．5Mb的正向串联重复突变导致CMT1A．展开更多
遗传性周围神经病中较常见的是遗传性运动感觉神经病（hereditary motor sensory neuropathy，HMSN），周围神经髓鞘蛋白22基因（PMP22）是其主要的致病基因，突变方式有重复突变及点突变。2013年8月至2014年6月北京大学第一医院有3例...遗传性周围神经病中较常见的是遗传性运动感觉神经病（hereditary motor sensory neuropathy，HMSN），周围神经髓鞘蛋白22基因（PMP22）是其主要的致病基因，突变方式有重复突变及点突变。2013年8月至2014年6月北京大学第一医院有3例患儿被诊断为HMSN，但较常见病例起病年龄早、症状重，电生理示运动及感觉神经传导速度减慢程度严重，基因检测结果显示患儿PMP22基因的新生突变，均为点突变。因此，基因检测有助于HMSN的确诊及分型，避免误诊和漏诊。展开更多
AIM： To examine the sensory and motor response（s） of the stomach following fundic distention and to assess whether cholinergic mechanisms influence these responses. METHODS： Fundic tone, gastric sensory responses ...AIM： To examine the sensory and motor response（s） of the stomach following fundic distention and to assess whether cholinergic mechanisms influence these responses. METHODS： Fundic tone, gastric sensory responses and antral motility were evaluated in eight healthy volunteers after a probe with two sensors was placed in the antrum and a highly compliant balloon in the fundus. Isobaric balloon distentions were performed with a barostat. Study was repeated in six volunteers after intravenous atropine was given. RESULTS： Fundic antral contractions curve was higher First sensation distention induced large amplitude in all subjects. The area under the （P〈0.05） during fundic distention. was reported at 12±4 mmHg, moderate sensation at 18±4 mmHg and discomfort at 21±4 mmHg. Discomfort was associated with a decrease in antral motility. After atropine was given, the area under the curve of pressure waves and fundic tone decreased （P〈0.05）. Sensory thresholds were not affected. CONCLUSIONS： Fundic balloon distention induces an antral motor response, the fundo-antral reflex, which in part may be mediated by cholinergic mechanisms.展开更多
文摘腓骨肌萎缩症（Charcot-Marie-Tooth disease，cMT）是一组具有高度临床和遗传异质性的单基因遗传性运动感觉神经病（hereditary motor and sensory neuropathy,HMSN）。此组疾病多于儿童和青少年时期起病，临床上以缓慢进展的对称性肢体远端肌肉无力与萎缩、轻至中度末梢型感觉障碍、腱反射减弱或消失和高弓足为典型表现。
文摘腓骨肌萎缩症（charcot marie tooth disease,CMT）是一组最常见的周围神经单基因遗传病，具有高度的临床变异性和遗传异质性。CMT患病率约为1／2500，遗传方式可为常染色体显性，常染色体隐眭和X连锁遗传。由于运动和感觉神经元均受累，多年前被归属于遗传性运动感觉神经病（hereditary motor and sensory neuropathy,HMSN）。自1991年发现由17号染色体短臂11．2区（17p11．2）1．5Mb的正向串联重复突变导致CMT1A．
文摘遗传性周围神经病中较常见的是遗传性运动感觉神经病（hereditary motor sensory neuropathy，HMSN），周围神经髓鞘蛋白22基因（PMP22）是其主要的致病基因，突变方式有重复突变及点突变。2013年8月至2014年6月北京大学第一医院有3例患儿被诊断为HMSN，但较常见病例起病年龄早、症状重，电生理示运动及感觉神经传导速度减慢程度严重，基因检测结果显示患儿PMP22基因的新生突变，均为点突变。因此，基因检测有助于HMSN的确诊及分型，避免误诊和漏诊。
基金Supported in part by an American College of Gastroenterology Clinical Research Grant, RR00059 by General Clinical Research Centers Program, R01DK5 7100-03, National Institutes of Health
文摘AIM： To examine the sensory and motor response（s） of the stomach following fundic distention and to assess whether cholinergic mechanisms influence these responses. METHODS： Fundic tone, gastric sensory responses and antral motility were evaluated in eight healthy volunteers after a probe with two sensors was placed in the antrum and a highly compliant balloon in the fundus. Isobaric balloon distentions were performed with a barostat. Study was repeated in six volunteers after intravenous atropine was given. RESULTS： Fundic antral contractions curve was higher First sensation distention induced large amplitude in all subjects. The area under the （P〈0.05） during fundic distention. was reported at 12±4 mmHg, moderate sensation at 18±4 mmHg and discomfort at 21±4 mmHg. Discomfort was associated with a decrease in antral motility. After atropine was given, the area under the curve of pressure waves and fundic tone decreased （P〈0.05）. Sensory thresholds were not affected. CONCLUSIONS： Fundic balloon distention induces an antral motor response, the fundo-antral reflex, which in part may be mediated by cholinergic mechanisms.
