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1.
Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.  相似文献   

2.
Alkaptonuria or ochronosis is a rare inborn disorder of metabolism which is characterized by deficiency of homogentisic acid oxidase. There is accumulation of homogentisic acid in the connective tissues causing brownish black pigmentation and skeletal damage. The most serious complication of this disease is crippling degenerative arthropathy which presents in late years of life. There is no definitive treatment for the condition. Symptomatic management is the main stay. Surgical management such as arthroplasty is done for severe cases of ochronosis. We report a case of ochronosis of the hip joint presenting with inflammation and lytic lesion which can create confusion and lead to error in diagnosis.  相似文献   

3.
Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis. After considering clinical finding, report of radiological investigation and Biochemical test results, patient was diagnosed as a case of Alkaptonuria. Screening of entire family revealed a typical case of familial inheritance. Hidden familial inheritance can be disclosed by mass screening of families and medical awareness.  相似文献   

4.
Mental Retardation is a condition where complex interactions of intrinsic and extrinsic factors hamper mental and sometimes physical growth of the child during developmental period. This study was carried out to detect cause of Mental Retardation in 2000 cases of developmental delay by a multidisciplinary team comprising of a Pediatrician, Cytogeneticist, Biochemist, Psychologist and Speech and Occupational therapists. The causes for developmental delay are broadly divided into Genetic, Environmental and Idiopathic (no specific cause found) factors. The complete diagnosis was possible in 1192(60%) cases. Genetic factors were found in 477(23.8%) cases and environmental factors covered 692(34.6%) cases as a cause of retardation. The most common genetic cause is chromosomal abnormalities which were found in 355 (17.75%) cases. Another major group comprising of 122 (6.1%) cases was that of the disorders which follow Mendelian inheritance. Autosomal recessive conditions, which covers majority of metabolic disorders, are detected in 48(2.4%) cases. During this screening the most common inherited metabolic condition detected is Mucopolysaccharidosis, a Lysosomal Storage Disorder followed by Amino acid abnormalities like Phenylketonuria, Alkaptonuria and Tyrosinuria.  相似文献   

5.
Uric acid an endogenous aqueous antioxidant in normal humans is present in much higher concentrations than vitamin C and has been known to cover 2/3rd of the free radical scavenging capacity in plasma. In the present study average uric acid levels of patients of rheumatoid arthritis were found to be close to the normal individuals. A unique feature was observed after classifying the patients on the basis of the duration of suffering, the patients having longer duration of disease had least uric acid levels as compared to those suffering from relatively lesser period, similar trend was observed in the ascorbic acid estimations. The decline in uric acid values with progression of the disease was much more than what was observed in case of ascorbic acid suggesting the significant role of uric acid in scavenging of free radicals. Too much lowering of Uric Acid should be checked and vitamin C should be supplemented in diet for maintaining the balance between pro oxidant and antioxidant forces to check pro oxidant insult in rheumatoid arthritis.  相似文献   

6.
The present study has investigated the levels of lipids, lipoprotein cholesterol (HDL and LDL cholesterol), thiobarbituric acid reactive substances (TBARS) and vitamin E in plasma and erythrocyte membranes of twenty two clinically diagnosed adult rheumatoid arthritis patients and an equal number of age matched healthy subjects. The levels of lipids and lipoprotein cholesterol were markedly reduced in patients with rheumatoid arthritis as compared to healthy subjects. The altered lipid pattern may be related to decreased lipoprotein cholesterol, fatty acids and impairment in antioxidant defence mechanism.  相似文献   

7.
The changes in the erythrocyte lipid peroxidation products (MDA), levels of glutathione (GSH), ascorbic acid and plasma vitamin E (non enzymatic antioxidant parameters) and activities of antioxidant enzymes superoxide dismutase (SOD), glutathione peroxidase (GPX), catalase in erythrocytes and plasma glutathione - S - transferase (GST) activity were estimated in patients with rheumatoid arthritis. This work was undertaken to assess oxidative stress and anti oxidant status in patients with rheumatoid arthritis. It was observed that there was a significant increase in erythrocyte MDA levels, activities of SOD, GPX, plasma GST and a significant decrease in erythrocyte GSH, ascorbic acid, plasma vitamin E levels and catalse activity in patients with rheumatoid arthritis when compared to controls. The results of our study suggests higher oxygen free radical production, evidenced by increased MDA and decreased GSH, ascorbic acid, vitamin E and Catalase activity, support to the oxidative stress in rheumatoid arthritis. The increased activities of antioxidant enzymes may be a compensatory regulation in response to increased oxidative stress.  相似文献   

8.
The main objective of the study was to assess the oxidative stress in plasma and erythrocytes of rheumatoid arthritis patients by measuring the levels of thiobarbituric acid reactive substances (TBARS), non-enzymatic antioxidants (vitamin E, C and reduced glutathione) and enzymatic antioxidants [superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSHPx)]. This study has been conducted on twenty-two adult female rheumatoid arthritis patients and an equal number of healthy subjects. Elevated lipid peroxidation and multidirectional changes in the antioxidant defence system were noticed in patients with rheumatoid arthritis. The enhanced lipid peroxidation accompanied by disturbance in antioxidant status indicates that rheumatoid arthritis patients are more prone to free radical mediated oxidative damage.  相似文献   

9.
Serum CRP and uric acid levels were estimated in twenty-five patients with psoriasis (group III) before and after 12 weeks of treatment. Results were compared with a group of 25 normal subjects (group I) and a group of 25 patients of various skin diseases other than psoriatic lesion (group II). Mean value for CRP was found to be increased by more than 20 folds in patients with psoriasis, which was subsequently reduced to nearly 50% of the initial value after 12 weeks of treatment. These patients also showed hyperuricemia. Nearly 25% of these patients also exhibited arthritis. It is thus suggested that both CRP and uric acid levels should be monitored in patients with psoriasis.  相似文献   

10.
Evidence of increased oxidative stress in patients of osteoarthritis in comparison with healthy control subjects was investigated by measuring the thiobarbituric acid reactive substances (TBARS), vitamin C, reduced glutathione (GSH) and the activities of superoxide dismutase (SOD), catalase and glutathione peroxidase (GPx) in erythrocytes. It was observed that osteoarthritis patients were more susceptible to oxidative damage than controls as evident from increased TBARS and decreased ascorbic acid, GSH, catalase and GPx in erythrocytes. Significant increase in SOD activity found in patients might be an adaptive response. With the understanding of the role of antioxidants in arthritis, it is becoming increasingly clear that these agents seem to be beneficial in osteoarthritis.  相似文献   

11.
Structural similarity between a viral protein and a self-component can trigger an autoimmune response, which is the basis of molecular mimicry. Alternatively an invading virus can induce an inflammatory response which in turn can initiate an attack by hitherto dormant T cells on a specific self-antigen, a phenomenon which is referred to as Bystander Activation. Several viruses share amino acid sequences with target self-proteins. A widely studied viral interaction is the structural mimicry of a small portion of coxsackie virus to a specific region of the enzyme glutamic acid decarboxylase (GAD) which is expressed by the β cells of the islet of Langerhans in the pancreas leading to the destruction of insulin producing cells and the onset of Type I insulin dependent diabetes mellitus (IDDM). Knowledge of specific epitopes in GAD susceptible to autoimmune attack can permit devising therapeutic strategies for the prevention and suppression of IDDM.  相似文献   

12.
An adequate antioxidant reserve which is usually present in a vegetarian diet is associated with higher life expectancy. On the other hand habitual consumption of fish is associated with lower risk of cardiovascular diseases which is attributed to the polyunsaturated fatty acids (PUFA) present in it. However the PUFA are readily susceptible to oxidation leading to the formation of free radicals which is known to be involved in the causation of several diseases. The oxidant-antioxidant status of 23 vegetarians and 22 fish eaters was studied by determining the plasma lipid peroxides measured as malondialdehyde (MDA) and the antioxidants, viz. glutathione (GSH), ascorbic acid, ceruloplasmin and uric acid. Results show that the ascorbic acid values were significantly higher in vegetarians. In addition, MDA correlated negatively with ascorbic acid only in vegetarians. However, correlation of MDA with glutathione showed a significant negative correlation only in fish eaters. There was no statistically significant difference in the MDA, GSH, ceruloplasmin and uric acid levels. The mechanism behind these findings are not clear and needs to be explored.  相似文献   

13.
Aim of present study was to compare the adenosine deaminase (ADA) activity in various types of arthritis conditions with synovial effusion. No. significant difference was observed in ADA activity in serum of control and study groups but results have shown a definite pattern of ADA activity in synovial fluid in various arthritic conditions. The highest value of ADA activity was observed in synovial fluid of patients with tubercular arthritis followed by rheumatoid, septic, osteo and post traumatic arthritis. Thus measurement of ADA activity in synovial fluid can be used as a parameter of differential diagnosis of arthritis specially tubercular in initial stages.  相似文献   

14.
本文以构成专利文献的"技术词"为最基本分析单元,深入专利文本内部对领军企业专利技术和产业技术标准以及技术整体发展情况进行定量描述。以近24年来通信产业专利及其必要专利为样本,通过领军企业专利技术内容与产业技术标准和产业整体专利技术内容相似度比较,揭示产业领军企业在产业整体技术发展过程中的作用机理。研究发现,领军企业技术内容领先于同时期产业主导技术,是同时期先导技术的重要组成部分,为新的技术范式的形成提供了重要技术基础。同时,通信产业领军企业在产业标准化过程中,积极参与标准化工作、拥有大量标准专利,对产业技术标准和技术范式的形成起到强大推动作用。  相似文献   

15.
With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an "antioxidant", a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms.  相似文献   

16.
罗芳  姚华芸 《技术与创新管理》2012,33(3):278-280,292
上海目前面对的主要战略任务之一就是加快转变经济发展方式、产业结构调整和升级。其中第二产业在上海市经济发展中有着举足轻重的地位,而主导产业的选择则是带领产业发展的重要因素。因此文章根据主导产业的选择基准选取指标,对上海市第二产业进行因子分析,从而得出各产业的各个因子得分及排名,并根据现实情况对这些产业进行筛选,最终得出上海的主导产业,而且对如何发展这些产业提出建议。  相似文献   

17.
首先分析了模块化对于一流企业技术创新的影响，构建了基于平台模块化的产学研用协同创新系统模型。在此基础上，结合典型案例探讨了其在模块化嵌入下的产学研用协同创新实践和演化轨迹；其次，围绕“用户协同-资源协同-组织协同”三个维度，归纳对比了产品模块化、组织模块化和平台模块化下案例企业的产学研用协同创新效应。研究发现：产品模块化、组织模块化可以被赋予调节产学研用协同创新的功能，而平台模块化既有利于推动企业与大学、科研机构从“面对面”转向“背靠背”的合作创新，也能通过开放企业平台资源来激发合作伙伴的创新潜能。  相似文献   

18.
这项研究对类风湿性关节炎的发病机理和免疫调控做了深入探索,在国际上首次阐明了骨桥蛋白在类风湿性关节炎发病中的作用,发现"骨桥蛋白"是引发类风湿性关节炎的顽凶,为治疗类风湿性关节炎找到了新的临床手段和药物靶点.本文介绍了该项成果的研究背景、意义、主要创新点及方法.  相似文献   

19.
Adjuvant induced arthritis (AIA) is a model widely used to study Rheumatoid arthritis (RA). In the present study, lipid peroxides level in spleen and thymus of AIA rats was observed to be significantly high compared to normal rats. A significant decrease in ascorbic acid (ASA), reduced glutathione (GSH), superoxide dismutase activity (SOD) was also observed in spleen and thymus of AIA rats compared to normal rats. There was also a steady increase in the circulating immune complex level (CIC) throughout the experimental period in serum of AIA rats. In the present investigation, it was decided to study the effect of pre and post treatment with TYPE II collagen on the antioxidant status and the circulating immune complex level in AIA rats. The results from the present work indicates that the pretreatment with TYPE II collagen was effective in bringing significant changes on all the parameters studied in AIA rats. The post treatment with TYPE II collagen was effective in bringing significant changes on the CIC immune complex level and GSH content in the thymus tissue of AIA rats. The present work suggests that the pre treatment with TYPE II collagen was more effective in suppressing the disease than the post treatment.  相似文献   

20.
吴波  杨菊萍 《科学学研究》2008,26(1):130-136
 区域龙头企业的知识溢出对本地中小企业成长的带动效果及其作用机制是目前理论和实践关注的重点问题。已有对作用机制的研究存在社会临近观和认知临近性两种观点。基于知识转移理论,我们认为二者的交互作用会对区域中小企业成长具有更大的作用。基于浙江省三个区域产业集群中163家中小企业实地调查数据,本文的实证研究发现,本地中小企业与龙头企业的社会临近性和社会临近性对中小企业成长具有显著正的交互作用;而区域龙头企业对中小企业成长的带动作用具有很大的局限性：只有同时与龙头具有较高社会临近和认知临近的本地中小企业才能享受到显著的带动作用。  相似文献   

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