遗传性压力易感性周围神经病研究进展

正遗传性压力易感性周围神经病(Hereditary neuropathy with liability to pressure palsies,HNPP)是由人类周围髓鞘蛋白22(peripheral myelin protein 22,PMP22)基因缺失突变或点突变引起的一种少见的常染色体显性遗传性周围神经病。HNPP多于20～30岁起病,以易卡压部位神经受到轻微牵拉或压迫后反复出现受累神经支配区域的麻木和无力为主要临床特征~([1])。1947年荷兰学者De Jong首先报道了第1例HNPP家系患者,多在跪着刨土豆后反复出现腓总神经麻痹     

神经电生理检测在遗传性压力易患性周围神经病诊断中的价值

遗传性压力易患性周围神经病( hereditary neuropathywith liability to pressure palsies，HNPP)是一种少见的常染色体显性遗传的周围神经病。临床上表现为青少年起病，以反复发作的易受嵌压部位的周围神经麻痹为特点，通常会由轻压迫或牵拉所诱发，神经电生理检测提示弥漫性神经传导速度减慢，并以嵌压部位为重。目前，临床治疗方式主要是通过避免压迫对神经造成的损伤，因此，HNPP的早期临床诊断和预防极为重要，我们就神经电生理检测在该病诊断中的价值作一综述。     

遗传性压迫易感性神经病一家系7例报道

遗传性压迫易感性神经病(hereditary neuropathy with liability to pressure palsies,HNPP)为罕见的常染色体显性遗传神经病,主要表现为轻微压迫、外伤或牵拉后反复出现的受累神经支配区麻木、无力.本文报道作者诊治的疑诊HNPP的一家系.本报道经青岛大学伦理委员会同意,且患者已签署知情同意书.     

遗传性压力敏感性周围神经病

遗传性压力敏感性周围神经病（HNPP）是一种常染色体显性遗传的周围神经病。HNPP的分子基础是染色体17p11．2区的一个1．5Mb片段缺失。临床特点为反复发作的在易卡压部位神经受压后，受累神经所支配区域出现运动感觉障碍。本病早期准确诊断后采取预防措施可减少发作。本文就HNPP的病因、临床特点及诊断等作一综述。     

反复以臂丛神经损害为表现的遗传性压力易感性周围神经病1例报告

<正>遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)是周围神经系统的常染色体显性遗传疾病,具有明显的遗传及临床异质性,通常由轻微事件(轻微牵拉、压迫及外伤)引起的复发性压迫性单神经或多神经损害的周围神经病变,其中腓总神经损害及尺神经损害是最常见的表现,约占70%,臂丛神经损害约占10%~25%~([1]),但是国内以臂丛神经损害为表现的HNPP报道较少,2016年赵冰等~([2])曾报道过3例以臂丛神经损害为表现的     

累及中枢神经系统的遗传性压力易感性周围神经病1例报道

正遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)是一种临床少见的常染色体显性遗传性疾病。临床表现为急性反复发作的受压部位周围神经病变。HNPP的发病机制与含有PMP22基因的染色体17p11.2上的1.5 Mb大片段缺失有关,PMP22主要     

经基因诊断的遗传性压力易感性神经病的临床及电生理特点

目的观察经基因检测的遗传性压力易感性神经病(HNPP)的临床及神经电生理变化特点。方法评估6个家系12例HNPP患者的病史、体格检查、电生理及PMP22基因检测资料。结果男4例,女8例,年龄10～52岁;表现为反复发作的易卡压周围神经受到轻微牵拉或压迫后出现运动感觉障碍;神经电生理检查示广泛神经传导异常,其中以尺神经、正中神经传导减慢发生率高;HNPP患者的PMP22基因起始拷贝数值波动于0.16～0.38之间,低于正常对照组(0.45～1.68)。结论 HNPP多数以易受压部位起病,表现无力麻木症状;电生理检查对HNPP的诊断有重要意义,特点主要为弥漫性神经传导速度减慢;基因检测提示国人HNPP的常见病因是PMP22缺失。     

CMT1A型与遗传性压迫易感性周围神经病的神经电生理对比研究

目的 探讨腓骨肌萎缩症1A型(CMT1A)与遗传性压力易感性神经病(HNPP)在神经电生理检测的不同特点.方法 记录9例CMT1A型和12例HNPP患者的临床特点,对两组患者进行了正中神经、尺神经、胫神经、腓总神经运动神经传导速度检测和正中神经、尺神经、胫神经、腓浅神经、腓肠神经感觉神经传导速度检测.结果 CMT1A型患者存在广泛的电生理异常,四肢周围神经NCV都明显减慢或消失,而且感觉和运动减慢程度一致,并且对任何节段周围神经的影响程度相同;HNPP患者的电生理特点是广泛的SCV不同程度减慢,而MCV减慢相对较轻且不同节段程度不同,主要是末端潜伏期值延长,以及明显的运动神经易卡压部位传导阻滞.结论 神经电生理检测是该两种疾病诊断及鉴别诊断的重要手段,短节段电位检测可证实HNPP的嵌压部位.     

CMT1A型与遗传性压迫易感性周围神经病的神经电生理对比研究

目的比较腓骨肌萎缩症1A型(CMT1A)与遗传性压迫易感性周围神经病(HNPP)神经电生理差异,总结CMT1A和HNPP的神经电生理特点。方法以10例CMT1A患者和14例HNPP患者为对象,使用Viking Quest肌电图诱发电位仪测定神经传导速度等神经电生理指标并进行比较。结果 CMT1A组运动神经传导速度显著慢于HNPP组,波幅下降明显,末端潜伏期延长,CMT1A组与HNPP组在运动神经传导速度方面差异有统计学意义(P0.05)。CMT1A组正中神经、腓肠神经传导速度和波幅与HNPP组显著下降(P0.05),2组尺神经指V波幅、腓神经波幅、胫骨小头下波幅等差异无统计学意义(P0.05)。CMT1A组尺神经、腓总神经短节段电位未见传导阻滞,HNPP组在尺神经肘部、腓总神经腓骨小头处可见局部传导阻滞。结论 CMT1A和HNPP在神经电生理方面具有一定差异,神经电生理检测可作为辅助判断手段,提高两种疾病的区别准确性。     

遗传性压力易感性周围神经病3例报告及文献复习

<正>遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies, HNPP)是一种染色体17p11.2的杂合性缺失所致的常染色体显性遗传性疾病,多散发存在,以易受压部位周围神经损害为主要临床表现,临床症状多样,常易漏诊,基因检测可明确诊断。本文将从3个临床病例,结合既往文献报道对HNPP进行讨论。1 病例资料患者1,女性,16岁,长期习舞者;     

Interictal cardiovascular autonomic responses in patients with temporal lobe epilepsy

PURPOSE: To measure interictal cardiovascular autonomic functions in patients with either refractory or well-controlled temporal lobe epilepsy (TLE). METHODS: For autonomic assessment, heart rate variation during normal and deep breathing, Valsalva maneuver, and tilting were measured in 19 patients with chronic refractory TLE, 19 patients with well-controlled TLE, and 38 age- and sex-matched healthy control subjects. Blood pressure responses to tilting and isometric work also were evaluated. RESULTS: Heart-rate (HR) variation during normal breathing (p = 0.006) and tilting (p = 0.043) was lower in patients with refractory TLE than in control subjects. Heart-rate response to tilting (p = 0.036) was also lower in patients with well-controlled TLE than in control subjects. Blood-pressure responses showed no differences between the patients and the control subjects. Patients taking carbamazepine (CBZ) medication had decreased HR responses to deep breathing (p = 0.046) and to tilting (p = 0.014) compared with the control subjects. CONCLUSIONS: Refractory TLE seems to be associated with dysfunction of the cardiovascular autonomic regulation, manifesting as impaired HR responses to certain stimuli. Interictal autonomic dysfunction is seen in patients with well-controlled TLE as well, but it may be more evident in patients with refractory epilepsy. CBZ medication may also be associated with altered autonomic cardiac control.     

手足口病患儿合并中枢神经系统损害临床分析

目的：探讨手足口病患儿合并中枢神经系统损害的临床特点及治疗方法。方法选取合并中枢神经系统损害的手足口病患儿137例,随机分为2组。回顾分析所有患者的临床特点、试验时间、检查结果,并进行统计。2组患儿均实施综合治疗,在此基础上,对照组给予胞二磷胆碱静滴,观察组给予神经节苷脂静滴。对2组患儿神经系统好转时间、发热缓解时间及痊愈时间进行统计。于治疗10 d时测定2组患儿神经元特异性烯醇化酶水平,评价2组患儿治疗效果。结果发热、皮疹、易惊是手足口病患儿合并中枢神经系统损害最为常见的临床表现;脑脊液细胞数升高是实验室检查中最常见的异常。观察组患者神经系统好转时间、发热缓解时间、痊愈时间及神经元特异性烯醇化酶水平均明显低于对照组。结论手足口病患儿合并中枢神经系统损害的临床表现缺乏特异性,治疗时应在综合治疗的基础上加用神经节苷脂静脉注射。     

Monoclonal antibody selectively reactive with myelin sheaths of the peripheral nervous system in paraffin-embedded material

Summary We have produced a monoclonal antibody (P_M43) selectively reactive with formalin-fixed paraffin-embedded peripheral nervous system (PNS) myelin. The hybridomas were generated by fusion of mouse myeloma cell line Sp2/0 with spleen cells of BALB/c mice immunized with cultured human melanocytes. Hybridomas were screened by the indirect immunoperoxidase assay. Ouchterlony analysis showed the immunoclass of P_M43 to be IgM. By the immunoaffinity chromatography technique, among others a 43-kDa protein was isolated from PNS myelin. The antigenic determinant of P_M43 in the mouse is expressed with a similar tissue distribution as observed in man. Expression of the antigenic determinant does not become visible until after birth in mice. P_M43 opens further possibilities for the use of anti-myelin antibodies in the study of myelination and demyelination processes in the PNS and remyelination processes in the central nervous system.Supported by the Dutch Ministry of Housing, Physical Planning and Environmental Management (M. J. van Haperen)     

鼠神经生长因子治疗手足口病合并中枢神经系统损害的研究

目的 探讨鼠神经生长因子在手足口病合并中枢神经系统损害患者治疗中的应用.方法 收集北京地坛医院自2008年5月至2010年9月收治的手足口病合并中枢神经系统损害并使用鼠神经生长因子治疗的48例患者的临床资料,采用回顾性分析方法总结其特点.结果 5岁以下尤其是1～3岁儿童是手足口病合并中枢神经系统损害高危人群.患者急性弛缓性麻痹症状出现时间平均在病程第(7.1±3.6)天,肌力恢复平均在第(17.5±6.0)天;呕吐症状出现和消失的平均时间分别为病程第(4.29±3.10)天和第(5.74±2.90)天;易惊症状出现和消失的平均时间为病程第(2.67±1.76)天和第(7.80±2.76)天.实验室检查显示患者白细胞及CK值均有不同程度升高,脑脊液压力、蛋白表达不同程度升高MRI提示延髓部位最常受累,其次为脑干等部位.结论 鼠神经生长因子应用于手足口病合并中枢神经系统损害患者时有助于改善患者的神经系统症状及预后.

Abstract：

Objective To investigate the application of mouse nervous growth factor (mNGF) on patients with hand-foot-and-mouth disease (HFMD) combined with central nervous system damage. Methods Clinical data of 48 patients with HFMD combined with central nervous system damage, admitted to our hospital and received treatment of mNGF from May 2008 to September 2010, were analyzed retrospectively. Results Children under 5 years old, especially between 1-3 years old, were the high-risk group of having HFMD combined with central nervous system damage. The average time of appearing of acute flaccid paralysis (AFP) and recovering of muscle strength were (7.1±3.6) d and (17.5±6.0) d, respectively. A total of 31 patients (64.58%) appeared vomiting, with its average times of appearance and disappearance as (4.29±3.10) d and (5.74±2.90) d, respectively. A total of 33 patients (68.75%) tended to appear panic symptoms, which appeared on (2.67±1.76) d and disappeared on (7.80± 2.76) d averagely. Laboratory test showed number of white blood cells and CK values were elevated of certain degree, and cerebrospinal fluid pressure and protein expression level were increased to varying degrees. MRI showed that bulbus medulla was the most likely to be involved, followed by brain stem and other parts. Conclusion Application of mNGF on patients with HFMD combined with central system damage may help to improve the neurologic symptoms and prognosis.     

Sympathetic hyperactivity in patients with ulcerative colitis

Hypo and hyperactivity of the autonomic nervous system have been associated with chronic bowel inflammation diseases. We investigated the autonomic function in 11 patients with chronic ulcerative colitis (UC) and 17 healthy controls by means of cardiovascular autonomic tests and heart rate variability. Autonomic responses were normal in patients and controls. At rest, LF/HF ratios were significantly (P < 0.05) higher in chronic UC patients (2.4 ± 1.6) compared to controls (1.2 ± 1.0). Our results suggest a higher sympathetic tone at rest in patients with chronic UC.     

270例中枢神经系统结核病患者的临床及病理

目的 分析中枢神经系统结核病的临床表现、病理特征及其误诊的原因。方法 对２７０例中枢系统结核病患者进行回顾性调查,并对其中３２例经尸解理证实的患者进行分析。结果临床表现除脑膜刺激征、颅高压外有中枢神经系统局灶损害症状,死亡６１例（占２２．５９％）,颅高压是其主要的死因,尸检发现以脑膜病变为主,大脑实质、小脑、脑干、脑室及脑血管和脊髓均有病变。误诊４９例,其中生前诊３２例,总误诊率为１８．１５％,结     

Takotsubo cardiomyopathy in a patient with postural tachycardia syndrome

A patient with postural tachycardia syndrome (POTS) developed takotsubo cardiomyopathy while undergoing elective surgery. Based on experimental data, we hypothesize that POTS may have predisposed our patient to this disorder and suggest possible modifications in management.     

Autonomic function in patients with chronic fatigue syndrome

Subtle signs of autonomic dysfunction and orthostatic intolerance have been reported in patients with chronic fatigue syndrome (CFS). To assess cardiovascular autonomic function noninvasively in an unselected group of patients with CFS, we examined responsiveness to several cardiovascular reflex tests in 37 CFS patients and 38 healthy control subjects. Blood pressure and heart rate (HR) were recorded continuously by a Finapres device before and during forced breathing, standing up, Valsalva maneuver, and sustained handgrip exercise (HG). In addition, a mental arithmetic test was carried out and questionnaires to assess the severity of CFS symptoms were completed. At rest, there were no significant differences in blood pressure or in HR between the two groups. The in- and expiratory difference in HR tended to be lower in CFS patients (28.4±10.5 beats) than in healthy controls (32.2±9.5) (p=0.11). The maximal increase in HR during standing up was not significantly different between the CFS group (37.6±8.9 beats) and the control group (40.2±8.9 beats). There were no significant differences between both groups with regard to the Valsalva ratio, but the systolic and diastolic blood pressure responses were significantly larger in CFS patients, despite the fact that many CFS patients were not able to sustain the Valsalva maneuver. The HR response to MA was significantly less in the CFS group (22.6±9.9) than in the control group (29.5±16.7) (p<0.05), suggesting impaired cardiac sympathetic responsiveness to mental stress. The lower HR responses could not be explained by the level of concentration in the CFS group. During HG exercise, the hemodynamic responses were lower in the CFS group than in the control group, but this might be attributed to the lower level of muscle exertion in CFS patients. There were no significant differences between CFS patients with and without symptoms of autonomic dysfunction regarding the hemodynamic responses to the cardiovascular reflex tests. The findings of the study suggest that there are no gross alterations in cardiovascular autonomic function in patients with CFS.     

高血压性脑出血患者心电图异常和自主神经活性变化的动态演变

目的　探讨不同部位脑出血患者心脏自主神经活性变化、ECG异常的动态演变。方法　动态检测 12 8例高血压性脑出血患者和 12 8例年龄配对对照高血压患者的心率变异性和标准 12导联ECG ,分析不同部位出血对心脏自主神经活性和ECG的影响及其动态演变。结果　右侧壳核和额顶颞叶出血患者快速心律失常和QTc延长发生率显著增加 ,左侧壳核和额顶颞叶出血患者ST段上升或下降显著增加 ;右侧壳核和额顶颞叶出血患者心率变异性高频功率谱 (HF)明显降低 ,心脏副交感神经活性降低 ;低频功率谱与高频功率谱的比值 (LF/HF)明显升高 ,心脏交感神经活性相对增强 ;心电图异常和心率变异性变化在病程前 4天明显。结论　脑出血患者心电图异常和心脏自主神经活性变化主要出现在病程前 4天 ,对脑出血患者急性期应加强心电监护和心脏保护。     

Morphology of subcortical brain nuclei is associated with autonomic function in healthy humans

The autonomic nervous system (ANS) is a brain body interface which serves to maintain homeostasis by influencing a plethora of physiological processes, including metabolism, cardiorespiratory regulation and nociception. Accumulating evidence suggests that ANS function is disturbed in numerous prevalent clinical disorders, including irritable bowel syndrome and fibromyalgia. While the brain is a central hub for regulating autonomic function, the association between resting autonomic activity and subcortical morphology has not been comprehensively studied and thus was our aim. In 27 healthy subjects [14 male and 13 female; mean age 30 years (range 22–53 years)], we quantified resting ANS function using validated indices of cardiac sympathetic index (CSI) and parasympathetic cardiac vagal tone (CVT). High resolution structural magnetic resonance imaging scans were acquired, and differences in subcortical nuclei shape, that is, ‘deformation’, contingent on resting ANS activity were investigated. CSI positively correlated with outward deformation of the brainstem, right nucleus accumbens, right amygdala and bilateral pallidum (all thresholded to corrected P < 0.05). In contrast, parasympathetic CVT negatively correlated with inward deformation of the right amygdala and pallidum (all thresholded to corrected P < 0.05). Left and right putamen volume positively correlated with CVT (r = 0.62, P = 0.0047 and r = 0.59, P = 0.008, respectively), as did the brainstem (r = 0.46, P = 0.049). These data provide novel evidence that resting autonomic state is associated with differences in the shape and volume of subcortical nuclei. Thus, subcortical morphological brain differences in various disorders may partly be attributable to perturbation in autonomic function. Further work is warranted to investigate these findings in clinical populations. Hum Brain Mapp 39:381–392, 2018. © 2017 Wiley Periodicals, Inc.