Predisposition of genetic polymorphism with the risk of urolithiasis

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.     

Data disaggregation: the case of Asian and Pacific Islander data and the role of health sciences librarians

Health disparities within Asian and Pacific Islander (API) communities are often masked due to aggregated data. Lack of adequate data limits required health care services for these communities. While moving forward toward health equity, it is critical that disparities for API communities are acknowledged and addressed. This article focuses on the issues of aggregated data for API communities followed by suggestions on how health sciences librarians can support and promote better practices for data disaggregation.     

Antinuclear Antibody Profiling in Patients of a Tertiary Care Centre in Central India

The incidence of autoimmune disorders that includes the connective tissue diseases has seen a rise in India in recent times. Antinuclear antibodies, the telltale sign of systemic autoimmune response, thus can be used as a screening tool and also to support the diagnosis of systemic autoimmune disease. The present retrospective cross- sectional analysis aimed to study the antinuclear antibodies profile (patterns and specific antibody reactivity) amongst suspected cases of auto-immune disorders at a tertiary care teaching hospital. The study retrieved and reviewed reports of 644 patients sent for ANA testing by indirect immunofluorescence assay over a period of 1 year by different specialty departments. Positive samples were further processed for anti-ds-DNA antibody and antibodies to extractable nuclear antigen. Data collected was statistically analysed. ANA pattern positivity was observed in 31% of cases and a positive antibody reactivity was seen in 66% of them. Female predominance (82%) was noted in both pattern positivity and antibody reactivity. High levels of pattern positivity and antibody reactivity was found in the young adults (45.9%). Amongst the ANA patterns, the nuclear homogenous pattern was found the commonest. The common antibodies associated with this pattern were anti-dsDNA and U1 Sm/RNP antibodies. A stronger fluorescence intensity on initial screening showed a higher confirmation rate for specific antibodies on immunoassay. High occurrence of positive ANA patterns in autoimmune disorders suggests its utilization as a screening tool for them and would also play an adjuvant to the diagnosis. Early knowledge about future autoimmunity will earn better prognostic achievements through better treatment interventions.     

Studies on homocysteine demonstrating its significance as a possible tool for differential diagnosis in occlusive vascular disease

Homocysteine (Hcy) is a non-protein forming amino-acid, whose metabolism is at the intersection of two metabolic pathways: remethylation and transsulfuration which are dependent on the vitamins folic acid, B₁₂ and B₆, and the enzymes methylenetetrahydrofolate reductase and cystathionine-β-synthetase. A deficiency of any of these vitamins or enzymes results in hyperhomocysteinemia. This causes oxidative and other damage to blood vessels, thus affecting various organ systems of the body. As part of our ongoing research on cardiovascular risk factors, we have studied the Hcy levels in the plasma of normal controls and those suffering from vascular diseases. It was observed that Hcy is significantly higher in patients of vascular diseases (21.59±1.28 μmol/L, mean±SEM), as compared to normal controls (11.33±0.18 μmol/L). This significance, was more pronounced in cases of venous thrombosis (26.77±2.43 μmol/L) as opposed to cases of arterial block (17.27±0.84 μmol/L). This signifies that Hcy estimation would be beneficial in obtaining a differential diagnosis in addition to being a modifiable vascular risk factor.     

Urinary Organic Acids Quantitated in a Healthy North Indian Pediatric Population

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.     

Salivary Alpha Amylase Activity in Human Beings of Different Age Groups Subjected to Psychological Stress

Salivary alpha-amylase (sAA) has been proposed as a sensitive non-invasive biomarker for stress-induced changes in the body that reflect the activity of the sympathetic nervous system. Though several experiments have been conducted to determine the validity of this salivary component as a reliable stress marker in human subjects, the effect of stress induced changes on sAA level in different age groups is least studied. This article reports the activity of sAA in human subjects of different age groups subjected to psychological stress induced through stressful video clip. Differences in sAA level based on sex of different age groups under stress have also been studied. A total of 112 subjects consisting of both the male and female subjects, divided into two groups on basis of age were viewed a video clip of corneal transplant surgery as stressor. Activity of sAA from saliva samples of the stressed subjects were measured and compared with the activity of the samples collected from the subjects before viewing the clip. The age ranges of subjects were 18–25 and 40–60 years. The sAA level increased significantly in both the groups after viewing the stressful video. The increase was more pronounced in the younger subjects. The level of sAA was comparatively more in males than females in the respective groups. No significant change in sAA activity was observed after viewing the soothed video clip. Significant increase of sAA level in response to psychological stress suggests that it might act as a reliable sympathetic activity biochemical marker in different stages of human beings.     

The relationship of individualism–collectivism and self-construals to communication styles in India and the United States

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.