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21.
P. Vondracek M. Hermanova J. Sedlackova L. Fajkusova D. Stary A. Michenkova R. Gaillyova P. Seeman R. Mazanec 《European journal of neurology》2007,14(10):1182-1185
We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders – Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609–3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet. 相似文献
22.
目的 观察葛根素对糖尿病周围神经病变的临床疗效。方法 在治疗糖尿病的同时 ,用0 9%氯化钠注射液 30 0mL 葛根素 0 4g静脉滴注 ,每天 1次 ,10d为 1疗程 ,共 3个疗程。结果 用葛根素治疗糖尿病周围神经病变 5 3例 ,显效 31例 ,有效 12例 ,总有效率达 81% ,无明显副作用。结论 葛根素治疗糖尿病周围神经病变效果较好 ,副作用小 ,值得推广运用 相似文献
23.
Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets
The structures of the developing eye-stalk and the relationships of early retinofugal fibers as they pass through the stalk, chiasm, and tract have been studied by light and electron microscopical methods in fetal ferrets aged 23–27 days. The early eye-stalk can be divided into two parts: a narrow extracranial part has a narrow lumen and is lined by few cells, whereas a thicker intracranial part has a wider lumen and is lined by several rows of cells. At the earliest stages no axon bundles are recognizable in the stalk, but fibers of the supraoptic commissure are already beginning to cross the midline in the diencephalon. Subsequently, as retinofugal axons invade the stalk, the glia of the extracranial part of the stalk have an interfascicular distribution and axon bundles are separately encircled by glial cytoplasm. In the intracranial part, as in the chiasm and tract, the glial cells occupy a periventricular position and send slender radial cytoplasmic processes to the subpial surface; these pass between groups of axons that here lie immediately deep to the subpial glia. Whereas axonal growth cones have no evident preferred distribution in the extracranial stalk, they tend to accumulate near the pial surface intracranially. The boundary between the two types of organization shifts as development proceeds so that the interfascicular glial structure of the early extracranial stalk first encroaches upon the intracranial parts and later appears in the chiasm. The characteristic adult arrangement of fibers in an age-related order in the optic chiasm and tract, but not in the optic nerve, can be understood if axonal growth cones are guided toward the pial surface by radial glia but not by interfascicular glia. From the distribution of the growth cones, this is what appears to happen. 相似文献
24.
Improvement of endoneurial lipid abnormalities in experimental diabetic neuropathy by oxygen modification 总被引:1,自引:0,他引:1
Endoneurial hypoxia and a high frequency of closed capillaries have been found in chronic experimental diabetes and human diabetic sural nerve, respectively. These findings have led to the hypothesis that the pathogenesis of diabetic neuropathy is due to endoneurial hypoxia. To evaluate the role of endoneurial hypoxia in experimental diabetic neuropathy, the effects of supplementation and deprivation of oxygen on peripheral nerve lipid biosynthesis were studied in normal control and streptozotocin-induced diabetic rats. Defective lipid biosynthesis in diabetic nerve was partially prevented by oxygen supplementation. When normal rats were placed in a hypoxic chamber, lipid abnormalities similar to those observed in diabetic nerves were demonstrated in the absence of changes in nerve free sugars. These findings suggest that endoneurial hypoxia may underlie some key biochemical abnormalities encountered in experimental diabetic neuropathy. 相似文献
25.
M. Vrethem B. Lindvall S. Kihlstrand E. Bckman T. Brismar P. Fredman K.G. Henriksson 《European journal of neurology》1996,3(2):156-159
We report improvement in muscle strength in a patient with multifocal motor neuropathy (MMN) when given high-dose intravenous immunoglobin (i.v.-Ig) treatment. The patient had asymmetrical limb weakness, atrophy and absent or weak reflexes, but no sensory disturbances. Neurography showed multiple conduction blocks in peripheral motor nerves but no sensory nerve abnormalities. Serum and anti-GM1 antibodies were not found, however, the patient had serum antibodies against the glycolipid LK1, an epitope found both in glycolipid and also in some glycoproteins in peripheral nerve myelin. Muscle strength improved 5 days after i.v.-Ig therapy, and lasted about 10 weeks. Repeated courses of treatment resulted in similar improvement. This is, to our knowledge, the first patient reported with MMN found to have antibodies against the glycolipid LK1. 相似文献
26.
Susumu Kusunoki Atsuro Chiba Seiji Hitoshi Hajime Takizawa Ichiro Kanazawa 《Muscle & nerve》1995,18(4):409-413
Four of 82 patients with Guillain-Barré syndrome (GBS) and 1 of 12 with multifocal motor neuropathy (MMN), who previously had had Mycoplasma pneumoniae infections, had serum antibody to galactocerebroside (Gal-C). Two patients with GBS without mycoplasma infection also had anti-Gal-C antibody, whereas none of the normal or the disease controls had it. As Gal-C is a major glycolipid antigen in myelin, anti-Gal-C antibody may function in the pathogenesis of autoimmune demyelinative neuropathies. Mycoplasma pneumoniae appears to be an important preceding infectious agent in autoimmune neuropathies with anti-Gal-C antibody. © 1995 John Wiley & Sons, Inc. 相似文献
27.
Charles V. Clark 《Documenta ophthalmologica. Advances in ophthalmology》1990,74(4):277-285
The results of systemic autonomic nerve function studies in patients with closed-angle glaucoma and ocular hypertension are reviewed. Autonomic neuropathy has been demonstrated in 58% of patients with closed-angle glaucoma and 42% of ocular hypertensive subjects, with significantly increased prevalence in ocular hypertensives with narrow iridocorneal angles. The implications are discussed, with particular reference to the pathogenesis of raised intraocular pressure. 相似文献
28.
S.L. Atkin A.M. Coady D. Horton N. Sutaria L. Sellars C. Walton 《Diabetic medicine》1995,12(3):267-270
A 15-year-old girl presented de novo in diabetic ketoacidosis having been comatose for 24 h (day 1). A CT scan and lumbar puncture performed on admission were normal and her conscious level slowly improved over several days. On day 7 she had central neurological signs of bilateral knee clonus and an extensor plantar response. In addition, she had developed lower motor neurological signs of an ulnar nerve palsy of the left forearm, and ulnar, median, and radial nerve palsies of the right forearm. Magnetic resonance imaging (MRI), performed on day 12, showed multiple small cerebral haematomata with appearances at least several days of age. The scattered lesions were localized particularly to the parieto-occipital region, with sparing of the basal ganglia and without cerebral oedema, a novel feature not previously described in juvenile ketoacidosis. Four months later there was minimal residual disability of her right arm. The clinical findings together with the MRI images suggested that the peripheral nerve and central lesions were temporally related, suggesting a common aetiology. However, it is likely that MRI showed cerebral lesions which may have been missed by the conventional CT scanning performed initially. 相似文献
29.
T. J. C. Faes G. A. Yff O. De Weerdt P. Lanting J. J. Heimans F. W. Bertelsmann 《Journal of neurology》1993,240(3):156-160
To evaluate the effects of the aldose reductase inhibitor Ponalrestat (Statil) on diabetic autonomic neuropathy, a double-blind placebo controlled trial was carried out on a group of 34 diabetic patients with documented cardiac autonomic neuropathy. After a 4-week, placebo run-in period, patients were randomised for treatment with 600 mg Statil or placebo for another 24 weeks. Moreover, the reliability of the autonomic nerve function tests was investigated by comparing the results at onset and at week 4. Fifteen patients treated with Statil and 12 with placebo completed the study. Neither symptom scores nor cardiovascular reflexes, pupil reflexes and skin vasomotor reflexes improved after Statil therapy, which led us to conclude that Statil is not effective in the treatment of diabetic autonomic neuropathy. Reliability coefficients for cardiovascular reflexes and pupil reflex showed high values, ranging from 60% to 80%. Therefore these methods are recommended in future therapy trials. 相似文献
30.
丹参注射液治疗糖尿病周围神经病变 总被引:1,自引:0,他引:1
筛选出非胰岛素依赖型糖尿病伴周围神经病变患者53例,随机分两组。两组患者均接受糖尿病常规治疗,同时其中一组加用丹参注液治疗,一组做为对照,结果显示:与对照组相经治疗组症状改善显著,并且改善症状所需时间也缩短,表明丹参注射液有助于糖尿病周围神经病变的恢复。 相似文献