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.     

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.     

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。     

The middle collateral artery: anatomic basis for the “extreme” lateral arm flap

The vascularization of the posterolateral area of the arm is supplied by the terminal branches of the deep brachial artery [middle collateral artery (MCA) and posterior radial collateral artery]. Their anatomy has been a field of confusion for a long time. An extended lateral arm flap, named the extreme lateral arm flap, supplied by these branches and dissected as a retrograde island flap has been proposed as an alternative for large compound defects of the distal forearm. We carried out an extensive anatomic study of the extreme lateral arm flap on 69 upper limbs: 54 fresh injected with colored latex, 10 embalmed and 5 radiographed after Micropaque injection. Two origin levels of the MCA were found: a proximal one (37%) above the radial groove, and a distal one (63%) at the level of the groove. The deep brachial artery always bifurcated after the origin of the MCA into a posterior radial collateral artery (PRCA) and anterior radial collateral artery (ARCA). Indeed in our dissections, after the origin of the MCA from the deep brachial artery, there was always a common trunk named the radial collateral artery (RCA) which bifurcated into the ARCA and PRCA. In all dissected arms we always found the MCA anastomosed in a transverse pattern with the inferior ulnar collateral artery (IUCA), contributing to the anastomotic circle of the elbow. This circle represents the unique vascularization source of the reverse extreme lateral arm flap.     

不同给药方案喙突下臂丛麻醉效果比较

目的：比较不同给药方案上肢手术喙突下臂丛麻醉的效果。方法：喙突下臂丛麻醉患者64例,随机分为3组,3种方案给药,方案①20例1％利多卡因30ml;方案②24例1％利多卡因20ml＋0.25％布比卡因10ml;方案③20例1％利多卡因10ml＋0.25％布比卡因20ml。测定麻醉起效时间、完善时间、持续时间及运动阻滞程度。监测药物不良反应。结果：3组麻醉结果,优良率皆达100％,起效时间、完善时间方案②及③皆长于方案①;持续时间方案②及③皆较方案①明显延长,各为其2.8倍及5倍,3组皆无不良反应。结论：3种方案皆安全有效。方案①麻醉起效快、短;方案②及③起效稍慢但持久。为临床不同时间手术选择不同给药方案提供了依据。     

国产盐酸氯普鲁卡因临床效应分析

目的 分析研究国产盐酸氯普卡因冻干粉与针剂分别应用于硬膜外麻醉、臂丛神经阻滞、局部浸润麻醉的效果。方法 采用随机双盲目的方法分组进行研究。硬膜外麻醉45例,分为3组（每组15例）：Ⅰ组1．7％利多卡因,Ⅱ组氯普鲁卡因粉剂稀释为3％,Ⅲ组3％氯普鲁卡因针剂;臂丛神经阻滞40例,分为4组（每组10例）;I组1．33％利多卡因,Ⅱ组2％普鲁卡因,Ⅲ组氯普鲁卡因粉剂稀释为2％,Ⅳ组2％氯普鲁卡因针刺;局部浸润麻醉30例（每例10例）分为3组：Ⅰ组1％普鲁卡因,Ⅱ组氯普鲁卡因粉剂稀释为1％,Ⅲ组1％氯普鲁卡因针剂。结果 硬膜外组中除Ⅲ组运动消失时间明显短于Ⅰ组外（P＜0．05）,其余指标无明显统计学差异;臂全神经阻滞组中,实验组疼痛恢复及运动恢复时间少于对照组I组,有统计学差异（P＜0．01）,实验组Ⅲ组疼痛及运动恢复时间均比对照组Ⅱ组长（P＜0．05）;局部浸润麻醉组中两实验组疼痛消失迅速,疼痛恢复时间均长于对照组,Ⅲ组短于Ⅱ组。结论 国产盐酸氯普鲁卡因麻醉起效迅速,性能稳定,粉剂比针剂更佳;作用维持时间介于盐酸普鲁卡因与利多卡因之间。