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1.
Ipsita Choudhury Mona A. Tilak Arun Kumar Patra 《Indian journal of clinical biochemistry : IJCB》2014,29(1):101-106
Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio’s disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results. 相似文献
2.
脑疾病是我国乃至全球人口健康领域正面临的重大挑战。尽快部署脑疾病研究的中长期战略具有重大意义,将显著提升我国在该领域的国际竞争力,促进相关学科的发展以及新技术和新治疗途径的开发,实现脑疾病的精准医疗。脑疾病的研究正在从分子细胞机理、介观网络机制、生物标记物与分子分型、影像诊断和治疗策略研发等多个层面推进,其中介观网络研究是当前脑科学研究的新焦点,将填补分子细胞机理和宏观疾病症状之间的鸿沟。基于脑疾病的复杂性,非人灵长类动物可能是研究人类脑疾病的最优模型,我国在该领域具有明显优势;而脑疾病的早期诊断和早期干预是脑疾病治疗的关键,我国有丰富的临床资源库,亟需建立国际规范化、全国统一化的采样、处理、分析标准和共享的规则。此外,单细胞和单分子技术是微观研究的新趋势,也是精准医疗的关键技术,在解析复杂脑疾病机理方面具有重要的价值。 相似文献
3.
Santosh Shinde Pawan Kumar Kaushala Mishra Neela Patil 《Indian journal of clinical biochemistry : IJCB》2006,21(2):156-160
Mitochondrial diseases are a heterogeneous group of disorders in which a primary mitochondrial dysfunction is proven by morphological,
biochemical, and genetic examinations. The mitral valve has important function in the regulation of blood flow from one chamber
to another. Often, the mitral valve becomes abnormal with age, in Rheumatic fever or it is abnormal from birth (Congenital)
or it can be destroyed by infection i.e. bacterial endocarditis and needs replacement. Myocardial function depends on energy
produced by mitochondria and in any of these disease conditions, mitochondrial functions and enzyme activities may be impaired.
With this in view, we analyzed the relationship between preoperative clinical conditions (as per New York heart Association)
and extent of mitochondrial enzyme activities in damaged Human mitral valve in two types of heart disease such as Rheumatic
Heart Disease (RHD) and Bacterial Endocarditis (BE). Thirty nine Patients undergoing cardiopulmonary bypass (CPB) for routine
valvular heart surgery were included in the study. Controls included 11 normal porcine mitral valve samples without any evidence
of heart disease. Mitochondrial enzymes like cytochrome oxidase (COX), succinate dehydrogenase (SDH), malate dehydrogenase
(MDH), citrate synthase (CS) and ATPase were determined. Mitochondrial COX, SDH, CS and Total ATPase activities were significantly
decreased in disease condition like BE and RHD when compared with control (P<0.001). On the other hand as per New York Heart
Association (NYHA) preoperative clinical classification, all the mitochondrial enzymes were significantly (p<0.05) impaired
in class IV as compared with NYHA class I, II and III. Present study shows that impairment in the mitochondrial enzymes activities
are more pronounced in bacterial endocarditis (BE). It also indicates that damage to mitochondrial enzymes are most pronounced
in NYHA class IV. 相似文献
4.
5.
The hyperlipidemia, fatty liver and the high levels of liver and kidney thiobarbituric acid reactive substances (TBARS) observed
in rats which were fed ethanol for 45 days, could be significantly reduced by feeding diacetodibutyl disulphide (DADBDS).
Ethanol-induced hypoproteinemia and the rise in serum enzymes like AST (EC 2.6.1.10), ALT (EC 2.6.1.2) and ALP (EC 3.1.3.1)
could also be ameliorated by DADBDS. Feeding of this compound to normal rats did not produce any change in serum or tissue
lipid levels or serum enzymes or tissue TBARS except a moderate reduction in serum triacyl glycerols. DADBDS feeding to rats
maintained on a high lipid diet could also reduce the serum and tissue lipid levels and also reduce the serum transaminases.
DADBDS which is an aliphatic disulphide could produce hypolipidemic effects in rats fed a single large dose of ethanol, whereas
dimenthol disulphide which is an aromatic disulphide was not useful as a hypolipidemic agent. Perhaps hypolipidemic effects
are shown only by aliphatic disulphides and not by aromatic disulphides. Feeding of 100 mg DADBDS per kg body weight to normal
fasted rats produced a mild hypoglycemia, but higher doses produced a hyperglycemic effect. This dose of DADBDS increased
the serum insulin levels and reduced blood glucose levels in fasted diabetic rats, but DADBDS feeding did not alter the serum
insulin levels in fasted normal rats. DADBDS is odourless and tasteless in 1% solution and it could be a better substitute
for garlic for hypoglycemic and hypolipidemic studies. 相似文献
6.
利用集集地震余震记录分析场地地震动反应 总被引：1，自引：0，他引：1
利用1999年台湾地区"921集集大地震"的余震记录,用传统谱比法、线性反演法、S波接收函数法和遗传算法对比分析了车笼埔断层近场区域的场地反应.通过对比4种方法的卓越频率和场地放大因子,发现各种方法能给出较一致的卓越频率,但每种方法的场地反应放大值不完全相同.结果表明,线性反演法与传统谱比法的结果受到参考场自身场地反应的影响;遗传算法作为一种绝对场地反应计算方法其结果是可行的,用遗传算法计算得到的参考场结果对线性反演法结果进行校正,校正后的线性反演法与遗传算法结果非常吻合,也证明了遗传算法结果的可行性,建议推广遗传算法来计算场地反应;接收函数法的结果则同其他3种方法的结果相差较大,考虑到运用强震记录进行H/V方法计算的物理机制仍有争议,建议在实际应用中,慎重考虑应用S波H/V的方法来估计场地放大.最后给出车笼埔断层研究区0.4~20Hz频率范围内S波品质因子值为Qs=69.7f?0.73. 相似文献
7.
阐述了干细胞研究现状、发展趋势和应用前景 ,对如何推进我国干细胞工程学的发展提出了建议。 相似文献
8.
K. Taranath Shetty Rita Christopher 《Indian journal of clinical biochemistry : IJCB》2000,15(1):136-144
Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually non-CAG, that are not translated. The triplet repeat intergeneration and intra-generational instability, and genetic anticipation characterize disorders. Most of the diseases caused by expanded CAG repeat share common features, which include neurodegeneration, a dominant pattern of inheritance and widespread expression of the gene products with neuronal loss restricted to distinct subset of neurons. Neurodegenerative changes associated of CAG expansion disorders is explained in terms of intra and extra cellular aggregation of mutant gene products, the insoluble nature of the protein(s) being attributed to the presence of polyglutamine stretches, hence their neurotoxic effects. methods based on poymerase chain reaction have become handy in the diagnosis of these genetic disorders. Progress in transgenic animal models for these disorders will be critical for understanding the progress of these disorders and for testing new therapeutic strategies. 相似文献
9.
综述分子标记在大麦耐非生物胁迫研究中的应用及其研究进展,包括发育基因效应、野生种或地方种的变异、遗传(QTLs)图谱等。现代引种和育种过程引起物种的遗传变异趋于狭窄、多样性减少,由此可能加重疾病、害虫和非生物胁迫等危害的潜在威胁。发育基因对环境胁迫具有较强的多态性效应;野生大麦和原始地方种为提高耐胁迫性提供了丰富的遗传变异资源。大麦遗传多样性的分离鉴定、遗传图谱构建、及数量性状位点(QTL)分析和分子标记辅助选择,将有助于更好地利用野生种质优良抗性,更有效的选择耐(抗)性基因型。文末从正反两方面简要讨论了分子标记在大麦耐非生物胁迫遗传育种研究中作用。 相似文献
10.
Singh PP Chandra A Mahdi F Roy A Sharma P 《Indian journal of clinical biochemistry : IJCB》2010,25(3):225-243
The antioxidants are essential molecules in human system but are not miracle molecules. They are neither performance enhancers
nor can prevent or cure diseases when taken in excess. Their supplemental value is debateable. In fact, many high quality
clinical trials on antioxidant supplement have shown no effect or adverse outcomes ranging from morbidity to all cause mortality.
Several Chochrane Meta-analysis and Markov Model techniques, which are presently best available statistical models to derive
conclusive answers for comparing large number of trials, support these claims. Nevertheless none of these statistical techniques
are flawless. Hence, more efforts are needed to develop perfect statistical model to analyze the pooled data and further double
blind, placebo controlled interventional clinical trials, which are gold standard, should be implicitly conducted to get explicit
answers. Superoxide dismutase (SOD), glutathione peroxidase and catalase are termed as primary antioxidants as these scavenge
superoxide anion and hydrogen peroxide. All these three enzymes are inducible enzymes, thereby inherently meaning that body
increases or decreases their activity as per requirement. Hence there is no need to attempt to manipulate their activity nor
have such efforts been clinically useful. SOD administration has been tried in some conditions especially in cancer and myocardial
infarction but has largely failed, probably because SOD is a large molecule and can not cross cell membrane. The dietary antioxidants,
including nutrient antioxidants are chain breaking antioxidants and in tandem with enzyme antioxidants temper the reactive
oxygen species (ROS) and reactive nitrogen species (RNS) within physiological limits. Since body is able to regulate its own
requirements of enzyme antioxidants, the diet must provide adequate quantity of non-enzymic antioxidants to meet the normal
requirements and provide protection in exigent condition. So far, there is no evidence that human tissues ever experience
the torrent of reactive species and that in chronic conditions with mildly enhanced generation of reactive species, the body
can meet them squarely if antioxidants defense system in tissues is biochemically optimized. We are not yet certain about
optimal levels of antioxidants in tissues. Two ways have been used to assess them: first by dietary intake and second by measuring
plasma levels. Lately determination of plasma/serum level of antioxidants is considered better index for diagnostic and prognostic
purposes. The recommended levels for vitamin A, E and C and beta carotene are 2.2–2.8 μmol/l; 27.5–30 μmol/l; 40–50 μmol/l
and 0.4–0.5 μmol/l, respectively. The requirement and recommended blood levels of other dietary antioxidants are not established.
The resolved issues are (1) essential to scavenge excess of radical species (2) participants in redox homeostasis (3) selective
antioxidants activity against radical species (4) there is no universal antioxidant and 5) therapeutic value in case of deficiency.
The overarching issues are (1) therapeutic value as adjuvant therapy in management of diseases (2) supplemental value in developing
population (3) selective interactivity of antioxidant in different tissues and on different substrates (4) quantitative contribution
in redox balance (5) mechanisms of adverse action on excess supplementation (6) advantages and disadvantages of prooxidant
behavior of antioxidants (7) behavior in cohorts with polymorphic differences (8) interaction and intervention in radiotherapy,
diabetes and diabetic complications and cardiovascular diseases (9) preventive behavior in neurological disorders (10) benefits
of non-nutrient dietary antioxidants (11) markers to assess optimized antioxidants status (12) assessment of benefits of supplementation
in alcoholics and heavy smokers. The unresolved and intriguing issues are (1) many compounds such as vitamin A and many others
possessing both antioxidant and non-antioxidant properties contribute to both the activities in vivo or exclusively only to
non-antioxidant activity and (2) since human tissues do not experience the surge of FR, whether there is any need to develop
stronger synthetic antioxidants. Theoretically such antioxidants may do more harm than good. 相似文献
11.
经理股票期权:有效率的激励制度 总被引：1，自引：0，他引：1
企业经营者是我国十分稀缺的人力资源，长期以来通过若干种激励方式想调动其积极性，但效果均不理想。因此寻求并建立一种有效率的激励机制成为当务之急。本文认为：经理股票期权激励（ESO）不失为解决此问题的一种有效形式，它最大优点是将所有者与企业经营者的利益捆绑在一起，强调共同的长期利益。文章就此形式进行了多方面的阐述，并结合当前实施的具体情况提出了自己的一些建议。 相似文献
12.
K. R. Dave T. H. Patel S. S. Katyare 《Indian journal of clinical biochemistry : IJCB》2001,16(1):81-88
Erythrocyte membrane protein glycosylation increase by 3.4 fold in diabetes. Insulin or sulfonylurea treatment did not reduce
the extent of glycosylation. The serum protein glycosylation was comparable in all the groups including control. Erythrocyte
membrane Na+,K+-ATPase activity decreased in the diabetics; only insulin treatment partly restored the activity. Erythrocyte membrane acetylcholinesterase
activity decreased only in the sulfonylurea treated group. Serum butyrylcholinesterase activity was relatively low in the
diabetic and insulin treated diabetic groups. The Km and Vmax of the two components of Na+,K+-ATPase from erythrocyte membranes were differently affected in the diabetic and the two treatment groups. The Vmax of acetylcholinesterase
decreased only in the sulfonylurea treated group. Diabetic states resulted in decreased Vmax of components I and II of serum
butyrylcholinesterase. In insulin-treated diabetics, component II was absent. Sulfonylurea group resembled diabetics.In vitro incubation with insulin differentially affected the Na+,K+-ATPase and serum butyrylcholinesterase activities. 相似文献
13.
Natalija Marinkovi? Daria Pa?ali? Slavica Poto?ki 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2013,23(3):255-265
Polycyclic aromatic hydrocarbons (PAHs) are among the most prevalent environmental pollutants and result from the incomplete combustion of hydrocarbons (coal and gasoline, fossil fuel combustion, byproducts of industrial processing, natural emission, cigarette smoking, etc.). The first phase of xenobiotic biotransformation in the PAH metabolism includes activities of cytochrome P450 from the CYP1 family and microsomal epoxide hydrolase. The products of this biotransformation are reactive oxygen species that are transformed in the second phase through the formation of conjugates with glutathione, glucuronate or sulphates. PAH exposure may lead to PAH-DNA adduct formation or induce an inflammatory atherosclerotic plaque phenotype. Several genetic polymorphisms of genes encoded for enzymes involved in PAH biotransformation have been proven to lead to the development of diseases. Enzyme CYP P450 1A1, which is encoded by the CYP1A1 gene, is vital in the monooxygenation of lipofilic substrates, while GSTM1 and GSTT1 are the most abundant isophorms that conjugate and neutralize oxygen products. Some single nucleotide polymorphisms of the CYP1A1 gene as well as the deletion polymorphisms of GSTT1 and GSTM1 may alter the final specific cellular inflammatory respond. Occupational exposure or conditions from the living environment can contribute to the production of PAH metabolites with adverse effects on human health. The aim of this study was to obtain data on biotransformation and atherosclerosis, as well as data on the gene polymorphisms involved in biotransformation, in order to better study gene expression and further elucidate the interaction between genes and the environment. 相似文献
14.
近年来,许多专利技术在我国以拍卖的方式得以交易。专利拍卖吸引了众多企业和个人的关注和兴趣,并日益成为专利技术市场的一种发展趋势。但是,目前我国研究专利拍卖及其成交率的文献还很少。以中国技术交易所2010年12月16日举办的第一届专利拍卖的89件专利为样本,通过双样本t检验比较拍卖成交专利和未成交专利的特征差异,并利用Logistic回归模型分析专利属性和拍卖方式等因素对专利拍卖成交率的影响。研究结果表明,专利拍卖的定价方式和专利属性中的发明人个数、专利类型、专利分类数对专利拍卖成交率有显著影响。 相似文献
15.
Bhawana Nigam S. P. Joshi Seema Nagar Rajesh Chavan D. Pendharkar 《Indian journal of clinical biochemistry : IJCB》1996,11(2):124-128
The analysis of biochemical parameters in 162 patients with various neoplastic disorders along with 50 normal subjects showed significant rise in serum alkaline phosphatase and lactate dehydrogenase as compared to normal subjects. 21 patients with other monoclonal gammopathies which include infection and immunological diseases were also studied. Parameters such as serum calcium, uric acid, total protein, albumin and globulin were also analyzed in 42 (26%) cases of multiple myeloma, 27 (17%) cases of gastro-intestinal malignancies, 22 (14%) cases of urogenital malignancies, 11 (6%) cases of carcinoma breast, 4 (2%) cases of bone tumors, 21 (12%) cases of other monoclonal gammopathies, including 7 (4%) cases of infection and 14 (8%) cases of immunological diseases. The results indicate use of enzymes alkaline phosphatase and lactate dehydrogenase in neoplastic disorders. 相似文献
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17.
Asma Farhat Sherwani Sameena Mohmood Fauzia Khan Rizwan Hasan Khan Md. Asim Azfer 《Indian journal of clinical biochemistry : IJCB》2003,18(2):169-180
Lectins, a group of specific glycoproteins present in animal as well as plant cells, are used as differentiating markers to
study cancers and metastatic cell lines. This property of lectins depends on the process of cellular glycosylation. Glycosylation
of some of the extracellular membrane proteins and lipids maintains the cell/cell and cell/matrix interactions. Chemical alterations
in glycosylation play an important role in the metastatic behavior of tumor cells. Carbohydrate residues of the membrane glycoproteins
can be detected using lectins due to their binding specificity to carbohydrates. Lectins, therefore have gained an importance
in the field of cancer research. Galectins, a specialized group of lectin like proteins that are Ca+ independent and galactoside
binding, are also considered as differentiation markers in some specific cancers like the carcinomas of thyroid.
Thus the use of lectins and galectins to identify specific carbohydrates present on cell surface help in invasion and metastasis
processes. 相似文献
18.
Architectures of genetic medicine: comparing genetic testing for breast cancer in the USA and the UK
Parthasarathy S 《Social studies of science》2005,35(1):5-40
This paper compares the development of genetic testing for breast cancer (BRCA testing) in the USA and the UK. It argues that national political cultures played an important role in how these genetic testing technologies were shaped, and that the shapes of these technologies had important implications for the users of these systems. In order to demonstrate the roles of national social and political elements in the development of new genetic testing technologies, I introduce the concept of a technology's architecture, which is made up of components and the specific ways in which these components are assembled to fulfill particular functions. In the USA, four very different BRCA testing systems initially emerged. However, one biotechnology company, Myriad Genetics, eventually used its legal and economic position to become the sole provider of testing. It offered BRCA testing the way many other laboratory tests were provided in the USA, available to anyone through any physician. The shape of this testing service had important implications for its participants, defining the client as a consumer who could demand access to any of Myriad's laboratory services, but could not choose among testing systems. In the UK, the government-run National Health Service provided testing through regional genetics clinics, using family history information to assess risk and triage care. Clients in the UK were defined as citizens and patients, who had the right to equal access to the testing system but could not demand any specific services. 相似文献
19.
Shalini N. Maksane Sucheta P. Dandekar Akash Shukla Shobna Bhatia 《Indian journal of clinical biochemistry : IJCB》2016,31(1):108-116
The reference intervals (RIs) of serum aminotransferases and Gamma-glutamyl transferase (GGT) have been established many years ago. Recent RIs are not available. The prospective study was conducted to re-evaluate the RIs of liver enzymes and the effect of demographic and anthropometric variables on them in western Indian population. A total of 1059 blood donors comprised the study population. Anthropometry and serum liver enzymes levels were measured. Subjects were categorized into normal weight and overweight by using body mass index (BMI) and waist circumference (WC). For RI determination, non-parametric methodology recommended by IFCC/CLSI was adopted. Mann–Whitney test and Spearman’s rank correlation were used for statistical analysis. Upper limit of normal reference value of liver enzymes were lower in female compared to male. (ALT—23.55 F vs 36.00 M, GGT—34.58 F vs 36.20 M) When RI of liver enzymes were calculated according to body mass index, the upper limit of normal of ALT and GGT were higher in overweight group compared to normal weight group. (ALT—38.00 vs 27.00 IU/L and GGT—37.59 vs 35.26 IU/L). In both male and female, liver enzymes correlated significantly with age. WC and BMI were positively correlated with AST, ALT and GGT in both subgroups and the correlation was stronger in male. Demographic factors should be considered for making liver enzyme tests more clinically relevant. Gender based partitioning should be adopted for serum alanine aminotransferase (ALT) and GGT reference values for Western Indian population. 相似文献
20.
氨基酰tRNA合成酶是生物体蛋白质合成过程中的一类关键酶 ,对它的研究具有重要的生物学意义和应用前景。该项目系统研究了大肠杆菌亮氨酰 和精氨酰 tRNA合成酶及其与相关tR NA的相互作用。用酶和tRNA的基因克隆和高表达 ,tRNA体外转录 ,基因定点突变 ,酶片段的体外重组等手段研究了酶与tRNA的相互作用的结构基础 ,得到一系列重要结果。 相似文献