Clinical characteristics and laboratory profile of childhood systemic lupus erythematosus in a tertiary care center

Objectives: To study the clinical characteristics and laboratory profile of systemic lupus erythematosus (SLE) in children in a tertiarycare center. Methods: Children presenting to our tertiary care center with suspected SLE, fulfilling at least 4 out of 11 American Collegeof Rheumatology (ACR) criteria for the diagnosis of SLE were reviewed retrospectively. The study period was from June 2012 to May2015. The clinical presentation and laboratory parameters were analyzed. Results: A total of 14 patients fulfilled the ACR criteria; therewere 12 girls and 2 boys with a sex ratio of 1:6 favoring girls. The mean age on presentation was 9.8 years with a range of 3-15 years.At presentation, 70% of the children had features not suggestive of SLE. The most common symptom was fever seen in 100% of thepatients, followed by hematological abnormalities in 78%, and renal involvement in 57% patients. Arthritis, skin lesions, and pulmonaryinvolvement were seen in 42% of the patients. The gastrointestinal presentation was seen in 21% of the patients. Conclusion: SLE has avaried clinical presentation depending on the predominant organ involved. A high index of suspicion is required for the early diagnosisof SLE in children

Nonrandom distribution of Alu elements in genes of various functional categories: insight from analysis of human chromosomes 21 and 22

The first draft of the human genome has revealed enormous variability in the global distribution of Alu repeat elements. There are regions such as the four homeobox gene clusters, which are nearly devoid of these repeats that contrast with repeat dense regions in other transcriptionally active regions of the genome. Our analysis of the completely sequenced chromosomes 21 and 22 revealed a striking bias in Alu distribution. These elements are more clustered in genes which are involved in metabolism, transport, and signaling processes. In contrast, they are significantly fewer in genes coding for information pathway components as well as structural proteins. This bias in Alu distribution is independent of the effect of Alu density of the flanking genomic region and is also not affected by the GC content of the gene and its upstream and downstream regions. The relative proportions of Alu subfamilies (Alu J, Alu S, and Alu Y) are not significantly different in genes with high Alu density belonging to the functional categories of transport, metabolism, and signaling. However, in the structural proteins and information genes, these proportions are lower than the other three categories. We suggest that Alu elements might be involved in regulatory mechanisms and are therefore differentially selected in primate genomes

Study of sleep problems and their association with scholastic performance in school going children

Background: Sleep is an integral part of any healthy individual and sleep problems can affect the intellectual abilities including theperformance at school. Objectives: We studied the sleep problems among school going children in the age group of 6-16 years and theassociation of the sleep problems with scholastic performance in them. Materials and Methods: The study was a cross-sectional studycarried out in students attending a private school. The children were given a questionnaire based on the “BEARS” screening tool forsleep problems in children to be filled by children and parents. Accordingly, the age and academic grades of students were recorded.The prevalence of sleep problems and their relation to school grades were studied. Results: Out of 229 students, 25.33% (58) studentswere found to have sleep problems after applying the “BEARS” criteria. Of these 58 children, 31 scored A grade, 25 scored B grade, and2 scored C grade. 23% (31 out of 135) of A graders were found to have sleeping problems, 28% (25 out of 89) of B graders, and 40%(2 out of 5) of C graders had sleeping problems. Conclusion: Sleep problems were common in school going children. It was observedthat as scholastic grades decreased, the prevalence of sleeping problems increased. Sleep problems might be one of the contributors forpoor scholastic achievements in children

Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human β-globin locus control region (LCR) in Indian population

LCR, a genetic regulatory element, was examined in β-thalassemia patients who do not show any mutation in the β-globin genes. We sequenced LCR-HS2, HS3, and HS4 in samples from 16 such patients from the Indian population and found only one SNP A-G in the inverted repeat in HS4. A significant association was observed between the G allele and occurrence of β-thalassemia by Fisher's exact test. The AG and GG genotypes showed higher relative risk as compared to the AA genotype. We also observed linkage disequilibrium between the A/G polymorphism and the AT-rich motif of the LCR HS2 region, suggesting that the G allele could be an evolutionarily new mutation in the study population

Evacetrapib and Cardiovascular Outcomes in High-Risk Vascular Disease

BACKGROUND: The cholesteryl ester transfer protein inhibitor evacetrapib substantially raises the high-density lipoprotein (HDL) cholesterol level, reduces the low-density lipoprotein (LDL) cholesterol level, and enhances cellular cholesterol efflux capacity. We sought to determine the effect of evacetrapib on major adverse cardiovascular outcomes in patients with high-risk vascular disease. METHODS: In a multicenter, randomized, double-blind, placebo-controlled phase 3 trial, we enrolled 12,092 patients who had at least one of the following conditions: an acute coronary syndrome within the previous 30 to 365 days, cerebrovascular atherosclerotic disease, peripheral vascular arterial disease, or diabetes mellitus with coronary artery disease. Patients were randomly assigned to receive either evacetrapib at a dose of 130 mg or matching placebo, administered daily, in addition to standard medical therapy. The primary efficacy end point was the first occurrence of any component of the composite of death from cardiovascular causes, myocardial infarction, stroke, coronary revascularization, or hospitalization for unstable angina. RESULTS: At 3 months, a 31.1% decrease in the mean LDL cholesterol level was observed with evacetrapib versus a 6.0% increase with placebo, and a 133.2% increase in the mean HDL cholesterol level was seen with evacetrapib versus a 1.6% increase with placebo. After 1363 of the planned 1670 primary end-point events had occurred, the data and safety monitoring board recommended that the trial be terminated early because of a lack of efficacy. After a median of 26 months of evacetrapib or placebo, a primary end-point event occurred in 12.9% of the patients in the evacetrapib group and in 12.8% of those in the placebo group (hazard ratio, 1.01; 95% confidence interval, 0.91 to 1.11; P=0.91). CONCLUSIONS: Although the cholesteryl ester transfer protein inhibitor evacetrapib had favorable effects on established lipid biomarkers, treatment with evacetrapib did not result in a lower rate of cardiovascular events than placebo among patients with high-risk vascular disease. (Funded by Eli Lilly; ACCELERATE ClinicalTrials.gov number, NCT01687998 .)

The efficacy of zirconium phosphomolybdate over its single salt counterparts

1012-1014A new phase of the mixed material zirconium phosphomolybdate, prepared with good column exchange capacity, has been characterised by elemental analysis, thermal studies, FTIR and surface area measurements. The material has been studied in detail for its exchange capacity, distribution behaviour for 12 metal ions and its performance compared with those of zirconium phosphate and zirconium molybdate. The utility of this exchanger is shown by achieving some binary separations of metal ions on its column

Signal transducer and activator of transcription 6 haplotypes and asthma in the Indian population

In this paper, we report for the first time the results of an investigation on the association of signal transducer and activator of transcription 6 (STAT6) with asthma in the Indian population. A novel polymorphic CA-repeat in the proximal promoter region [R1] and a previously identified CA-repeat in the 5'-untranslated region [R3] were genotyped, and haplotypes [R1_R3] were generated using PHASE software. The 16 repeat allele at the R1 locus was positively associated (P = 0.01) with asthma. The 15 and 16 repeat alleles at the R3 locus were positively (P < 10−4) and negatively (P < 10−5) associated with asthma, respectively. Further, the 17_15 (P = 0.0031) and 16_15 (P = 0.001) haplotypes were found to be positively associated with asthma, whereas 17_14, 24_16, and 23_16 were negatively associated (P < 10−5). It appears that the R3 and R1 loci together play a bigger role in asthma than either of them alone, and the R3 locus has a larger effect than the R1 locus. Although alleles at the R1 locus appeared to be associated with total serum immunoglobulin E level, the genotypes showed no association, and the R3 locus showed no effect. As no exonic variants of STAT6 are known as yet, repeat polymorphisms in the regulatory regions and their haplotypes could be important in deciphering the genetic role of STAT6 in asthma and atopy

(TG/CA)_n repeats in human housekeeping genes

The unravelling of human genome sequence gives a new opportunity to investigate the role of repetitive sequences in gene regulation. Among the various types of repetitive sequences, the dinucleotide (TG/CA)n repeats are one of the most abundant in human genome and exhibit polymorphism. Early on, it was observed that the (TG/CA)n repeats could modulate gene expression and has the propensity to undergo conformational transitions in in vivo conditions. Recent reports describe the role of polymorphic (TG/CA)n repeats in gene regulation in several genes. In this work, we have analysed the distribution of (TG/CA)n (n ≥ 6) repeats in human ‘housekeeping genes’ on which recently released Gene Chip data is available. Our results indicate that (i) The number of short intragenic (TG/CA)n repeats is significantly higher than the number of long repeats (ii) the proportion of genes with (TG/CA)n repeats (n ≥ 12 units) had lower mean expression levels compared to those without these repeats, (iii) the genes belonging to the functional class of ‘signalling and communication’ had a positive association with repeats in contrast to the genes belonging to the ‘information’ class that were negatively associated with repeats

Recent Foraminifera From the Mahanadi River Estuary, East Coast of India

The Mahanadi River estuary (Figure 1) is one of the major estuaries in India and the largest one in the Odisha State. It is situated within latitudes 190 47? and 200 30? N and longitudes 850 33? and 860 49? E. It originates from Amarakantak region of Madhya Pradesh and flows through Madhya Pradesh and Odisha States over a length of 890 kms having a drainage basin of about 1,41,600 sq. kms with a large catchment area. It opens into the Bay of Bengal at Pardeep in Cuttack district. It has a wide opening into the sea at its northeastern end. The tidal stretch extends up to 32 kms from the mouth. The entire area is full of mangrove vegetation together with mud flats traversed by a network of tidal creeks except some portions such as Paradeep and Astaranga mouth regions which are sandy shorelines. The studies on Recent foraminifera in relation to the prevailing ecological parameters such as salinity, temperature, dissolved oxygen, and pH, and sediment characteristics and organic matter content of the sediments have been carried out in the present investigations. These studies can be used to delineate the palaeo-environments which serve as useful tools in the exploration for petroleum. 10 sediment and 10 water samples were collected from the estuary for the study of foraminifera and sediment characters, and water analysis respectively. The foraminifera of the estuary were identified. 12 abundant species which are Ammobaculities exiguus, Ammonia beccarii, Ammonia beccarii tepida, Elphidium advenum, Elphidium hispidulum, Milliamina fusca, Nonion depressulus, Pararotalia nipponica, Pararotalia cf. globosa, Quinqueloquelina lamarckina, Quinqueloculina seminulum and Rosalina globularis and are related to the prevailing ecological parameters and the substrate characteristics including the organic matter content

TGFβ1 haplotypes and asthma in Indian populations

Background: Asthma is a complex disorder of the airways of the lungs. TGF-β1 plays a key role in airway remodeling and asthma by having both proinflammatory and anti-inflammatory activities, making TGFβ1 an important candidate gene to study. Objective: To investigate the association of TGFβ1 gene polymorphisms with asthma. Methods: A case-control study was designed for identifying polymorphisms and haplotypes associated with asthma and associated phenotypes. We have verified our results in 2 independent cohorts collected from northern (number of patients, 187; number of controls, 187) and western India (number of patients, 209; number of controls, 190). We measured the serum TGF-β1 levels of selected individuals and correlated them with genotypes and haplotypes. Results: A novel (CT)n(CA)m repeat polymorphism (BV209662) 24.9 kb upstream of TGFβ1 was identified. A significant association was seen at the level of alleles and genotypes with asthma in the 2 cohorts studied independently (P < .05). Interestingly, a novel 3-locus haplotype, 23_G_T, was found to be significantly associated with asthma (P = .00001 in cohorts A and B) as well as with higher serum TGF-β1 level (P = .01). On the other hand, a novel haplotype, 22_G_C, was negatively associated with asthma (P = .00001 for cohorts A and B) and with lower serum TGF-β1 level (P = .0019). Conclusion: This is the first study identifying novel risk and protective haplotypes-23_G_T and 22_G_C, respectively-in the TGFβ1 gene that are associated with asthma. We also demonstrate the functional significance of these haplotypes with serum TGF-β1 levels. These results would be valuable in elucidating the role of TGF-β1 in asthma pathogenesis