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41.
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G. Van Goethem J.-J. Martin A. Lfgren I. Dehaene P. Tack M. Van Zandycke D. Ververken C. Ceuterick C. Van Broeckhoven 《European journal of neurology》1997,4(5):476-484
We studied 14 patients from three unrelated Belgian pedigrees with a familial mitochondrial disorder and multiple deletions of mitochondrial DNA (mtDNA). In one family with an oculopharyngeal presentation there is a clear autosomal dominant inheritance. Progressive external ophthalmoplegia (PEO), “ragged red fibres” (RRF) and multiple deletions of mtDNA are common to all three families. Therefore a diagnosis of autosomal dominant progressive ophthalmoplegia with multiple deletions of mtDNA (adPEO) was made in one family at least. Our data confirm the previous observations that adPEO is a systemic disorder rather than a pure myopathy. In our pedigrees frequently associated features include axonal peripheral neuropathy, dysphagia, psychiatric illness, and sudden death. Mild ataxia, pes cavus and mitral valve prolapse with associated mitral insufficiency also occur. In some cases onset is atypical with neuropathy, adolescent onset myopathy or psychiatric illness. In such cases the common features of PEO and muscle weakness always complete the clinical phenotype later during the course of the disease. Biochemical studies on mitochondrial fractions prepared from one patient's muscle, revealed no abnormalities of respiratory chain enzyme activities. 相似文献
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M. -H. Smet F. de Zegher M. Vanderschueren-Lodeweyckx G. Marchal 《European radiology》1992,2(1):57-61
In this study, magnetic resonance imaging (MRI) was performed to document potentially present morphostructural abnormalities of the hypothalamopituitary region in seven infants (age 0–21 months) who presented very early in life with clinical and biochemical evidence of hypopituitarism. Four infants had associated congenital cerebro-facial malformations.The following anatomical abnormalities were identified in variable combinations: ectopic neurohypophysis absence of the pituitary stalk, extreme elongation of the pituitary stalk, aplasia of the anterior pituitary lobe and no identification of the hypothalamopituitary complex.MRI proved to be very sensitive in the identification of structural malformations of the hypothalamopituitary region in infants with or without cerebro-facial malformations. AllhwuLll the magnetic resonance image does not appear to be a good predictor of endocrine dysfunction, it provides us more insight into the precise aetiology of this disorder and may be therefore of diagnostic, prognostic and therapeutic importance. 相似文献
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2型糖尿病患者胆结石发生的高危因素分析 总被引:1,自引:0,他引:1
蒋晓红 《江苏大学学报(医学版)》2002,12(2):149-150
目的:探讨2型糖尿病患者胆结石与高胰岛素、脂代谢紊乱的关系。方法:采用病例对照研究的方法,观察50例伴胆结石与60例不伴胆结石的2型糖尿病患者血清胰岛素、胰岛素敏感指数、C肽、血脂的变化。结果:发现伴胆结石患者的血清胰岛素、C肽、甘油三酯、胆固醇显著高于不伴胆结石组(P<0.05),高密度脂蛋白、胰岛素敏感指数显著低于不伴胆结石组(P<0.05),载脂蛋白-A1明显降低(P<0.01),而两组低密度脂蛋白、脂蛋白-a、载脂蛋白-B1无差异。结论:高胰岛素血症、脂代谢异常可能中老年2型糖尿病患者胆结石 形成的高危因素。 相似文献
47.
Summary This study describes reduced motor nerve conduction velocity and increased resistance to hypoxia-induced conduction failure in sciatic nerves of rats after four weeks of streptozotocin-induced diabetes (both effects were significant at p <0.05). These changes occurred in the absence of any deficit in the steady-state ouabain-sensitive adenosine triphosphatase (ATPase) activity of sciatic nerve endoneurial homogenates. The addition of 10 nmol/l insulin to endoneurial homogenates from control animals resulted in a 34% increase in ouabain-sensitive ATPase activity and a 19% reduction in ouabain-insensitive ATPase activity (both p <0.01). This stimulation of ouabain-sensitive ATPase activity by insulin did not occur in homogenates from diabetic rats. Treating diabetic rats daily with the aldose reductase inhibitor, imirestat (1 mg/kg) improved nerve conduction velocity (p <0.05) but was without effect upon the resistance to hypoxic conduction blockade or the deficit in insulin-stimulated oubain-sensitive ATPase activity. These data suggest that in streptozotocin-diabetic rats the functional disorders of reduced motor nerve conduction velocity and increased resistance to hypoxic conduction blockade do not share a common aetiology and that impaired nerve conduction is not related to reduced maximal potential oubain-sensitive ATPase activity. 相似文献
48.
2型糖尿病患者外周血白细胞iNOSmRNA表达的变化及意义 总被引:1,自引:0,他引:1
目的研究2型糖尿病DM患者外周血白细胞中iNOSmRNA表达的变化及其与糖尿病肾病DN发生、发展的关系。方法101例2型DM患者,根据尿微量白蛋白排泄率和血肌酐水平分为单纯DM组和不同的DN组,用原位杂交法检测外周血白细胞iNOSmRNA表达的阳性细胞的百分率,并与21例健康体检者进行比较。结果早期DN组白细胞iNOSmRNA表达的百分率明显高于对照组、DM组及晚期DN组(P<0.001)。结论外周血白细胞iNOSmRNA表达的变化参与了DN的发生、发展。 相似文献
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50.
David M. Cockburn 《Clinical & experimental optometry》1987,70(5):156-165
The clinical characteristics of 100 consecutively presenting diabetic patients of an optometrist were investigated. This sample was drawn from 3798 patient first visits and represented 2.6% of the practice population sample. Diabetic retinopathy was present in 26% of the diabetic patients; this prevalence is similar to that found in diabetics examined in community based surveys. The ocular complications of diabetics observed in this study appeared to be similar to those of diabetics in the general community. The mean random blood glucose levels of the diabetics having retinopathy was not significantly different from those not having retinopathy. A first degree family history of diabetes was admitted by 46% of the diabetic subjects and was the most common associated clinical feature surveyed; a control group of non-diabetic subjects had a first degree family history of diabetes in 10% of cases. In seven patients, the diabetes was diagnosed as a result of signs detected at the optometric examination; these signs are listed. No newly diagnosed diabetic had diabetic retinopathy as a presenting sign. Ocular and systemic signs, other than diabetic retinopathy, were sought and a high prevalence of cardiovascular disease was detected in these diabetic patients. The vision of the diabetic patients was compared to that of 100 randomly selected age and sex matched controls; there was no significant difference in the visual acuity of the two groups. The implications of this finding are discussed. Guidelines for the detection and management of diabetic patients of optometrists are suggested. 相似文献