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Rama D. Mittal Hemant K. Bid Parmeet K. Manchanda Rakesh Kapoor 《Indian journal of clinical biochemistry : IJCB》2008,23(2):106-116
Urolithiasis is a relevant clinical problem with a subsequent burden for health system. The aim of this review is to provide
recent progress made using genetic polymorphisms to define pathophysiology, to identify persons at risk for kidney stone disease
and to predict treatment response. Population case-control studies are useful both as an alternative and an adjunct as compared
to family studies. These involve either whole genome scanning or candidate gene approaches. While whole genome scanning is
likely to be widely used in future, at present, candidate gene studies are more feasible. When performing candidate gene case-control
studies factors such as study design, methods for recruitment of case and controls, selection of candidate genes, functional
significance of polymorphisms chosen for study and statistical analysis require close attention to ensure that only genuine
associations are detected. Some of the significant genes that play role in stone formation include calcitonin receptor gene
(CTR), vitamin D receptor (VDR), Urokinase, Interleukin, (IL-1β, IL-Ra), E-Cadherin, Androgen & oestrogen receptor gene, vascular
endothelial growth factor (VEGF) and Arginine p21. In our case-control study we studied CTR, VDR, Urokinase, IL-1β(−511 and
+3954), IL-Ra from north India and predict that VDR, IL-β (-511) and IL-1Ra gene may be used as a possible genetic marker
for earlier detection in patients who are at risk for calcium oxalate stone disease. Further, linkage disequilibrium and haplotype
structure of a certain candidate gene is important for association analysis. When a certain polymorphic allele has been found
to be associated with disease, it is further explained on basis of LD and haplotype structure by one or more other alleles.
Once it is determined which haplotype carries the risk allele, by means of molecular biological functional analyses, the variants
on that haplotype allele truly causing the effect can be determined. 相似文献
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The capability to count cells from biofluids at low cost has important diagnostic implications in resource-poor settings. Many approaches have been developed to address this important need, and while most envision a low per-test cost, the detector instrument can be quite expensive. In this report, we present a novel device that enables low-cost and rapid counting of cells from a drop of blood. We demonstrate a shallow, buried, planar waveguide fabricated by ion exchange in glass that underlies a microfluidic structure for capturing cells. Laser light transmitted through the waveguide was attenuated by the number of metal nanoparticles tagged to the cells because of the interaction of the metal particles with the evanescent field of the waveguide. Calibration of the sensor using bead-tagged lymphocytes captured from human blood showed that the sensor could semi-quantitatively count as few as 100 cells/μL of blood. This technology enables the enumeration of specifically captured cells, allowing for a point-of-care, hand-held device for fast and affordable cell counting in screening, remote, or resource-poor settings. 相似文献
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Chandrawati Kumari Ankur Singh Siddharth Ramji James D. Shoemaker Seema Kapoor 《Indian journal of clinical biochemistry : IJCB》2015,30(2):221-229
Human urine gives evidence of the metabolism in the body and contains numerous organic acids and other compounds at a variety of concentration. The concentration of organic acids in urine varies from population to population due to genotype, food habits and other epigenetic and environmental influences. Knowledge of the reference values for urinary organic acids in a healthy pediatric population is very important for critical evaluation. This study was designed to quantify 16 organic acids in a healthy north Indian pediatric population. Early morning urine samples from healthy pediatric subjects of age 1 day to 16 years who did not have symptoms of any disease were analyzed for organic acid content. The children were not on any supplemental vitamins or drugs and were on a free and unrestricted diet. The creatinine concentration of each sample was determined before organic acid analysis. Organic acids were extracted from urine with ethyl acetate, extracted residue was air dried, converted into trimethylsilyl derivatives and analysed by gas chromatography mass spectrometry. Here we reported the age wise mean values and standard deviations for each compound, adjusted for creatinine content (mmol/mol of creatinine). We found the concentration of most of the metabolites are higher in our population in comparison to other populations. Such data may help to provide a basis for diagnosing metabolic abnormalities in patients in a specific ethnicity. 相似文献
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This study investigated the high-/low-context communication construct in terms of individualistic and collectivist values and self-construals. European American students studying in the United States and Indian students studying in India rated 80 communication statements, 29 self-construal statements and 34 value (individualism/collectivism) statements to examine cultural differences in each construct. As expected, Indians rated themselves as more collectivistic, having more interdependent self-construals, and preferring silence and indirect communication than Americans. Contrary to prior theorization, Indians also rated themselves as more dramatic and more individualistic. Several other expected differences were not apparent in this study. These findings show complex subtleties that defy simple definition by the common rubrics or generalizations of individualism/collectivism, self-construal, or high- and low-context behaviors. 相似文献