Inherited focal, episodic neuropathies

Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found.     

普拉固和鱼油对高胆固醇血症患者血脂与心脑血管事件影响的比较

目的:比较普拉固和鱼油对高胆固醇血症患者的血脂、血粘度、血管内皮功能和心脑血管事件的影响。方法:对266例原发性高胆固醇血症患者经2周洗脱期后,随机分为两组,普拉固组,初服10mg,每晚一次,8周后若TC仍>5.2mmol/L,LDL—ch>3.12mmol/L,则加量至20mg/d,每8周再查血脂,以达到TC<5.2mmol/L,LDL—ch<3.12mmol/L的量作治疗量继续服用。鱼油组,服美国深海鱼油一日三次,一次3g,均于服药8周复查血脂、血粘度及血管内皮功能等并作16月随访。结果:治疗8周,TC,普拉固组下降26％,鱼油组下降12％(P<0.01)。LDL—ch,普拉固组下降31％,鱼油组下降11％(P<0.01),肱动脉流量介导的舒张与硝酸甘油介导的舒张,普拉固组分别增加104％和19％,鱼油组无明显改变。全血低切粘度,普拉固组减少23％,鱼油组减少10％(P<0.01)。平均随访16月,普拉固组中脑出血1例(0.8％),鱼油组发生心脑血管事件7例(5.3％),死亡1例(P<0.05)。两组均无明显的不良反应。结论:普拉固是一个安全有效的降脂药,能改善血管内皮功能,降低血粘度,减少高胆固醇血症病人心脑血管事件发生。     

Exploration simplifiée des atteintes plexiques par réduction aux atteintes nerveuses et radiculaires connues

The anatomic complexity of the brachial plexus makes its electrophysiological exploration difficult. Electrodiagnosis nevertheless plays a crucial role in assessing brachial plexopathies, particularly in the perspective of post-traumatic surgical reconstructions. The evaluation aims to locate as precisely as possible injuries within the plexus, as well as to determine their severity and capacity for recovery. This requires various sensory nerve conduction studies and needle EMG recordings of “marker” muscles. Plexopathies differ from radiculopathies by altered sensory nerve responses and unaltered functional innervation of paracervical muscles. We propose to simplify the exploration of brachial plexopathies by following some practical rules derived from a reanalysis of the brachial plexus anatomic sketch. Two main simplification rules can be deduced from an analysis of the anatomic sketch. First it would be judicious to associate the plexopathies involving a single element of the brachial plexus with distinct etiological and symptomatic patterns according to the altered element, as one does for peripheral nerve and root pathologies. The second proposal relies on the observation that each supraclavicular “truncal” element (upper, middle, or lower) of the brachial plexus results from reunion of cervical root nerves and behaves like a “super-root” for the upper limb, while each infraclavicular “cord” element (posterior, lateral, or medial) is the sum of two or more peripheral nerves and behaves like a “super-nerve”. Accordingly, the motor and sensory abnormalities associated with the lesion of a single plexus branch may occupy a clinical and electrophysiological territory that recovers those of its constituants. Except the unaltered paracervical muscles, it is useful to reduce the topographical semiology of truncal lesions to well-known cervical radiculopathies (upper trunk neuropathy to C5 and C6 associated radiculopathies, middle trunk neuropathy to C7 radiculopathy, lower trunk neuropathy to C8 and T1 associated radiculopathies); and that of cord lesions to well-known mononeuropathies of the upper limb (for example, a posterior cord neuropathy may be considered as a full radial mononeuropathy associated with an axillary one). This method of simplification allows to demystify the brachial plexopathies and to facilitate their comprehension and exploration.     

臂丛加强化麻醉后并发颈部抽动9例分析

目的探讨臂丛加强化麻醉后颈部抽动的原因及防治。方法对近年来在麻醉方法、用药相同,术后颈部抽动患者的观察治疗过程进行分析。结果臂丛麻醉并发颈部抽动给予充分镇静后可完全治愈。结论麻醉后并发颈部抽动为药物副作用及颈局部刺激的综合作用。     

两种不同方法定位肌间沟臂丛神经阻滞的临床观察

目的 观察经肩胛舌骨肌定位和运用神经刺激器定位肌间沟臂丛神经阻滞两种方法的临床效果。方法 选择ASAⅠ-Ⅱ级的择期上肢手术患者60例，随机分为两组：I组（30例）通过肩胛舌骨肌定位穿刺点寻找异感；Ⅱ组（30例）使用神经刺激器定位肌间沟臂丛神经，观察肌肉节律性收缩。两组分别观察进针深度，阻滞效果及不良反应。I组还同时观察肩胛舌骨肌触摸难易度，穿刺部位以及一次异感获得率等。结果 I组肩胛舌骨肌触摸容易者27例（90％），穿刺部位距锁骨上缘1.6-3.1cm，进针深度0.5-1.5cm，一次获得异感26例（87％），阻滞效果完善，无不良反应。Ⅱ组有28例阻滞完善，另2例阻滞不全，2例出现不良反应。结论 运用神经刺激器定位肌间沟臂丛神经阻滞切实可行。而以肩胛舌骨肌定位肌间沟臂丛神经阻滞定位明确，效果满意，简单易行。     

The combination oral and nutritional treatment of late-onset diabetes mellitus (CONTROL DM) trial results.

OBJECTIVE: To examine the effect of short-term improvements in glycaemic control on brachial artery endothelial function as a marker of cardiovascular health. METHODS: Persons with Type 2 diabetes who were poorly controlled on oral therapy were randomly assigned to monotherapy with repaglinide or combination therapy with repaglinide plus metformin. Brachial artery flow-mediated vasodilation was assessed by ultrasonography at randomization and following 16 weeks of therapy. The primary outcome was change in brachial artery endothelial function from baseline. Comparison of randomized groups was a secondary aim. RESULTS: Eighty-six participants were randomized, and 83 were followed to study completion. Post occlusion brachial artery vasodilation was 3.74% at baseline and 3.82% following 16 weeks of therapy (P = 0.77). The treatment effect was 0.08% (95% CI: -0.48%, 0.64%). No difference was seen between treatment groups (P = 0.69). Overall, A1C was reduced from 8.3% to 7.0%, with a greater reduction in the combination therapy group (from 8.4% to 6.7%) than in the monotherapy group (from 8.3% to 7.3%, p for difference between groups = 0.01). Statistically significant reductions were observed in fasting glucose, and plasminogen activator inhibitor-1. Statistically significant increases were observed for fasting insulin, uric acid, weight and BMI. CONCLUSIONS: Brachial artery endothelial function was not influenced by short-term improvements in glycaemic control. The CONTROL DM group was successful in lowering A1C. Future research should explore more intensive and longer-lasting improvements in glycaemic control on endothelial function. Some data previously published in abstract form (Diabetes 2001; 50 (Suppl. 2): A217).     

选择性上肢神经阻滞和静脉局部麻醉的进展

临床实践中，尽管臂丛神经阻滞可采用多种人路以满足上肢区域麻醉的需要，但有时仍需应用一些不常见的技术，如选择性上肢神经阻滞和静脉局部麻醉（IVRA），来阻滞非源自臂丛的神经或弥补臂丛神经阻滞不全。     

肩肱皮瓣修复颈部瘢痕挛缩畸形疗效分析

目的:探讨颈部瘢痕挛缩畸形的有效外科治疗手段。方法:采用瘢痕广泛松解、双侧或单侧肩肱皮瓣转移,同时用全厚皮片移植修复供瓣区创面。结果:本组21例中,17例手术一次性完成,4例分两次完成。不但改善了患者的上肢功能,还可进一步改善患者颈部的活动度。结论:瘢痕广泛松解、双侧或单侧肩肱皮瓣转移,同时用全厚皮片移植修复供瓣区创面是颈部瘢痕挛缩畸形的有效外科治疗手段。     

Location of motoneurones projecting to the cat distal forelimb. II. Median and ulnar motornuclei

The position of the motornuclei projecting through the median (Mn) and ulnar (Ul) nerves to the cat distal forelimb has been investigated. Horseradish peroxidase (HRP) and fluorescent (Fl) compounds have been used as retrograde tracers. They were either injected into forelimb muscles or applied to the proximal end of transected forelimb nerves. Limb muscles that were not investigated were carefully denervated. The position and the architecture of the individual motornuclei were traced with HRP. The topographical relations between the nuclei were established with application of up to three different Fl compounds in the same animal. The Mn motoneurones had a bimodal distribution in the brachial spinal cord. The motoneurones to the pronator teres and flexor carpi radialis muscles were located in C7 and the other Mn motoneurones were located in C8 and Th1. In C7 the Mn motoneurones occupied a single representation area, which is located some distance medially of the lateral funiculus. In C8 and Th1 two Mn representation areas were found: A dorsal one that contacts the lateral funiculus and is located at the level of the central canal; a ventral one that is located ventrally in the ventral horn. The dorsal area is occupied by the motornuclei projecting to the intrinsic hand muscles and the ventral one by the nuclei projecting to the limb. The Ul motoneurones extend with an unimodal distribution from the caudal C7 to the caudal Th1 segments. They occupy a single, broad representation area. The dorsal part, which contacts the lateral funiculus, is located at the level of the central canal and harbours the nuclei to the intrinsic hand muscles. The other Ul nuclei are located ventromedially deep in the ventral horn. These results, together with those from the companion paper on the location of the deep radial motornuclei, provide important anatomical information for the investigation of the cat brachial enlargement.