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26.  Whole Genome Sequencing and Analysis of Plant Growth Promoting Bacteria Isolated from the Rhizosphere of Plantation Crops Coconut, Cocoa and Arecanut 
PLoS ONE  2014;9(8):e104259.
Coconut, cocoa and arecanut are commercial plantation crops that play a vital role in the Indian economy while sustaining the livelihood of more than 10 million Indians. According to 2012 Food and Agricultural organization's report, India is the third largest producer of coconut and it dominates the production of arecanut worldwide. In this study, three Plant Growth Promoting Rhizobacteria (PGPR) from coconut (CPCRI-1), cocoa (CPCRI-2) and arecanut (CPCRI-3) characterized for the PGP activities have been sequenced. The draft genome sizes were 4.7 Mb (56% GC), 5.9 Mb (63.6% GC) and 5.1 Mb (54.8% GB) for CPCRI-1, CPCRI-2, CPCRI-3, respectively. These genomes encoded 4056 (CPCRI-1), 4637 (CPCRI-2) and 4286 (CPCRI-3) protein-coding genes. Phylogenetic analysis revealed that both CPCRI-1 and CPCRI-3 belonged to Enterobacteriaceae family, while, CPCRI-2 was a Pseudomonadaceae family member. Functional annotation of the genes predicted that all three bacteria encoded genes needed for mineral phosphate solubilization, siderophores, acetoin, butanediol, 1-aminocyclopropane-1-carboxylate (ACC) deaminase, chitinase, phenazine, 4-hydroxybenzoate, trehalose and quorum sensing molecules supportive of the plant growth promoting traits observed in the course of their isolation and characterization. Additionally, in all the three CPCRI PGPRs, we identified genes involved in synthesis of hydrogen sulfide (H2S), which recently has been proposed to aid plant growth. The PGPRs also carried genes for central carbohydrate metabolism indicating that the bacteria can efficiently utilize the root exudates and other organic materials as energy source. Genes for production of peroxidases, catalases and superoxide dismutases that confer resistance to oxidative stresses in plants were identified. Besides these, genes for heat shock tolerance, cold shock tolerance and glycine-betaine production that enable bacteria to survive abiotic stress were also identified.
doi:10.1371/journal.pone.0104259
PMCID: PMC4146471  PMID: 25162593
27.  Neglected post burns contracture of hand in children: Analysis of contributory socio-cultural factors and the impact of neglect on outcome☆ 
Background
No study has ever evaluated the causes and effect of neglect on the outcome of post burns contractures of hand in children.
Methods
66 hands in 61 children (mean age 12.22 years) with a mean neglect of 11.6 years (range 5–17 years) were assessed for the causes of neglect and the outcome of surgery. Average follow up was 6.6 years. The results were assessed in two groups of 5–10 years neglect as group I and >10 years neglect as group II.
Results
In a total number of 134 contracted rays in 66 hands, the surgical procedures included local Z/V-Y flap (51 rays), cross finger flap (48 rays), full thickness graft (35 rays). Additional external fixator with a distracter was used in 3 patients treated at a delay of 14, 16 and 17 years.
50 (81.96%) patients belonged to rural and slum areas. The reasons for delayed treatment included poverty – 33 patients, lack of awareness of surgical treatment – 16 patients; and indifference of parents – 12 patients. 44 (72.13%) children were illiterates. With treatment the average DASH score improved from 65.10 to 36.90 (p < .000) and from 68.14 to 45.93 (p < .000) in group I and II respectively. The results were significantly superior in group I (p < .000).
Conclusion
The main factors for neglect in treatment of post burns contracture include poverty, lack of awareness and illiteracy. All the patients showed significant improvement in function after the surgery. Contractures with higher neglect had significantly inferior outcome.
doi:10.1016/j.jcot.2014.07.011
PMCID: PMC4263997  PMID: 25983501
Neglected; Post burn; Hand contractures; Surgical outcome; Pediatric
28.  Correlation of Molecular Markers, Pfmdr1-N86Y and Pfcrt-K76T, with In Vitro Chloroquine Resistant Plasmodium falciparum, Isolated in the Malaria Endemic States of Assam and Arunachal Pradesh, Northeast India 
PLoS ONE  2014;9(8):e103848.
The mechanism of chloroquine (CQ) resistance in Plasmodium falciparum is not clearly understood. However, CQ resistance has been shown to be associated with point mutations in Pfcrt and Pfmdr1. These genes encode for digestive vacuole transmembrane proteins Pfcrt and Pgh1, respectively. The present study was carried out to analyze the association of Pfcrt-K76T and Pfmdr1-N86Y mutations with CQ resistance in Northeast Indian P. falciparum isolates. 115 P. falciparum isolates were subjected to in vitro CQ sensitivity testing and PCR-RFLP analysis for the Pfmdr1-N86Y and Pfcrt-K76T mutations. 100 isolates of P. falciparum were found to be resistant to CQ by the in vitro susceptibility test (geometric mean EC50 2.21 µM/L blood) while 15 were found to be CQ sensitive (geometric mean EC50 0.32 µM/L blood). All the CQ resistant isolates showed the presence of Pfmdr1 and Pfcrt mutations. CQ sensitive isolates were negative for these mutations. Strong linkage disequilibrium was observed between the alleles at these two loci (Pfmdr1-N86Y and Pfcrt-K76T). The results indicate that Pfmdr1-N86Y and Pfcrt-K76T mutations can be used as molecular markers to identify CQ resistance in P. falciparum. The result necessitates the evaluation of CQ in vivo therapeutic efficacy in endemic areas for more effective malaria control strategies.
doi:10.1371/journal.pone.0103848
PMCID: PMC4126653  PMID: 25105963
29.  The Draft Genome and Transcriptome of Amaranthus hypochondriacus: A C4 Dicot Producing High-Lysine Edible Pseudo-Cereal 
Grain amaranths, edible C4 dicots, produce pseudo-cereals high in lysine. Lysine being one of the most limiting essential amino acids in cereals and C4 photosynthesis being one of the most sought-after phenotypes in protein-rich legume crops, the genome of one of the grain amaranths is likely to play a critical role in crop research. We have sequenced the genome and transcriptome of Amaranthus hypochondriacus, a diploid (2n = 32) belonging to the order Caryophyllales with an estimated genome size of 466 Mb. Of the 411 linkage single-nucleotide polymorphisms (SNPs) reported for grain amaranths, 355 SNPs (86%) are represented in the scaffolds and 74% of the 8.6 billion bases of the sequenced transcriptome map to the genomic scaffolds. The genome of A. hypochondriacus, codes for at least 24,829 proteins, shares the paleohexaploidy event with species under the superorders Rosids and Asterids, harbours 1 SNP in 1,000 bases, and contains 13.76% of repeat elements. Annotation of all the genes in the lysine biosynthetic pathway using comparative genomics and expression analysis offers insights into the high-lysine phenotype. As the first grain species under Caryophyllales and the first C4 dicot genome reported, the work presented here will be beneficial in improving crops and in expanding our understanding of angiosperm evolution.
doi:10.1093/dnares/dsu021
PMCID: PMC4263292  PMID: 25071079
Caryophyllales; grain amaranth; Amaranthus hypochondriacus; lysine biosynthesis; C4 photosynthesis
30.  Transcriptome Profiling Reveals Higher Vertebrate Orthologous of Intra-Cytoplasmic Pattern Recognition Receptors in Grey Bamboo Shark 
PLoS ONE  2014;9(6):e100018.
From an immunologist perspective, sharks are an important group of jawed cartilaginous fishes and survey of the public database revealed a great gap in availability of large-scale sequence data for the group of Chondrichthyans the elasmobranchs. In an attempt to bridge this deficit we generated the transcriptome from the spleen and kidney tissues (a total of 1,606,172 transcripts) of the shark, Chiloscyllium griseum using the Illumina HiSeq2000 platform. With a cut off of > = 300 bp and an expression value of >1RPKM we used 43,385 transcripts for BLASTX analysis which revealed 17,548 transcripts matching to the NCBI nr database with an E-value of < = 10−5 and similarity score of 40%. The longest transcript was 16,974 bases with matched to HECT domain containing E3 ubiqutin protein ligase. MEGAN4 annotation pipeline revealed immune and signalling pathways including cell adhesion molecules, cytokine-cytokine receptor interaction, T-cell receptor signalling pathway and chemokine signaling pathway to be highly expressed in spleen, while different metabolism pathways such as amino acid metabolism, carbohydrate metabolism, lipid metabolism and xenobiotic biodegradation were highly expressed in kidney. Few of the candidate genes were selected to analyze their expression levels in various tissues by real-time PCR and also localization of a receptor by in-situ PCR to validate the prediction. We also predicted the domains structures of some of the identified pattern recognition receptors, their phylogenetic relationship with lower and higher vertebrates and the complete downstream signaling mediators of classical dsRNA signaling pathway. The generated transcriptome will be a valuable resource to further genetic and genomic research in elasmobranchs.
doi:10.1371/journal.pone.0100018
PMCID: PMC4067322  PMID: 24956167
32.  ADAR1 forms a complex with Dicer to promote microRNA processing and RNA-induced gene silencing 
Cell  2013;153(3):575-589.
SUMMARY
Adenosine deaminases acting on RNA (ADARs) are involved in RNA editing that converts adenosine residues to inosine specifically in double-stranded RNAs. In this study, we investigated the interaction of the RNA editing mechanism with the RNA interference (RNAi) machinery and found that ADAR1 forms a complex with Dicer through direct protein-protein interaction. Most importantly, ADAR1 increases the maximum rate (Vmax) of pre-microRNA (miRNA) cleavage by Dicer and facilitates loading of miRNA onto RNA-induced silencing complexes, identifying a new role of ADAR1 in miRNA processing and RNAi mechanisms. ADAR1 differentiates its functions in RNA editing and RNAi by formation of either ADAR1/ADAR1 homodimer or Dicer/ADAR1 heterodimer complexes, respectively. As expected, expression of miRNAs is globally inhibited in ADAR1−/− mouse embryos, which in turn alters expression of their target genes and might contribute to their embryonic lethal phenotype.
doi:10.1016/j.cell.2013.03.024
PMCID: PMC3651894  PMID: 23622242
33.  Refolding of β-Stranded Class I Chitinases of Hippophae rhamnoides Enhances the Antifreeze Activity during Cold Acclimation 
PLoS ONE  2014;9(3):e91723.
Class I chitinases hydrolyse the β-1,4-linkage of chitin and also acquire antifreeze activity in some of the overwintering plants during cold stress. Two chitinases, HrCHT1a of 31 kDa and HrCHT1b of 34 kDa, were purified from cold acclimated and non-acclimated seabuckthorn seedlings using chitin affinity chromatography. 2-D gels of HrCHT1a and HrCHT1b showed single spots with pIs 7.0 and 4.6 respectively. N-terminal sequence of HrCHT1b matched with the class I chitinase of rice and antifreeze proteins while HrCHT1a could not be sequenced as it was N-terminally blocked. Unlike previous reports, where antifreeze activity of chitinase was cold inducible, our results showed that antifreeze activity is constitutive property of class I chitinase as both HrCHT1a and HrCHT1b isolated even from non-acclimated seedlings, exhibited antifreeze activity. Interestingly, HrCHT1a and HrCHT1b purified from cold acclimated seedlings, exhibited 4 and 2 times higher antifreeze activities than those purified from non-acclimated seedlings, suggesting that antifreeze activity increased during cold acclimation. HrCHT1b exhibited 23–33% higher hydrolytic activity and 2–4 times lower antifreeze activity than HrCHT1a did. HrCHT1b was found to be a glycoprotein; however, its antifreeze activity was independent of glycosylation as even deglycosylated HrCHT1b exhibited antifreeze activity. Circular dichroism (CD) analysis showed that both these chitinases were rich in unusual β-stranded conformation (36–43%) and the content of β-strand increased (∼11%) during cold acclimation. Surprisingly, calcium decreased both the activities of HrCHT1b while in case of HrCHT1a, a decrease in the hydrolytic activity and enhancement in its antifreeze activity was observed. CD results showed that addition of calcium also increased the β-stranded conformation of HrCHT1a and HrCHT1b. This is the first report, which shows that antifreeze activity is constitutive property of class I chitinase and cold acclimation and calcium regulate these activities of chitinases by changing the secondary structure.
doi:10.1371/journal.pone.0091723
PMCID: PMC3953593  PMID: 24626216
34.  Attenuation of quorum sensing controlled virulence of Pseudomonas aeruginosa by cranberry 
Background & objectives:
Emergence of antimicrobial resistance in Pseudomonas aeruginosa has led to the search for alternative agents for infections control. Natural products have been a good alternative to present antibiotics. The present study was undertaken to evaluate the effectiveness of cranberry in attenuation of virulence of P. aeruginosa in experimental urinary tract infection (UTI) in mouse model. Efforts were also directed to explore the action of cranberry towards virulence of P. aeruginosa through quorum sensing (QS) inhibition.
Methods:
Efficacy of cranberry was evaluated in an experimental UTI mouse model and on production of QS signals, alginate, pyochelin, haemolysin, phospholipase-C, cell-surface hydrophobicity, uroepithelial cell-adhesion assay and biofilm formation by already standardized methods.
Results:
Presence of cranberry showed significant decline in the production of QS signals, biofilm formation and virulence factors of P. aeruginosa in vitro (P<0.001). Further, cranberry was found to be useful in prevention of experimental UTI in mouse model as indicated by reduced renal bacterial colonization and kidney tissues destruction.
Interpretation & conclusions:
The findings of the present study indicated that cranberry inhibited QS and hence elaboration of virulence factors of P. aeruginosa. It also affected the adherence ability of this pathogen. This approach can lead to the discovery of new category of safe anti-bacterial drugs from dietary sources such as cranberry with reduced toxicity without the risk of antibiotic resistance.
PMCID: PMC4069740  PMID: 24820840
Biofilm; cranberry; P. aeruginosa; quorum sensing; virulence factors
35.  Hollow Mill for Extraction of Stripped Titanium Screws: An Easy, Quick, and Safe Technique 
Removal of jammed titanium screws can be difficult due to the problem of stripping of the hexagonal heads of the screws. We present a technique of extraction of stripped screws with the use of a standard 4.5 mm stainless steel hollow mill in a patient of peri-implant fracture of the radius fixed with a titanium locking plate 2 years back. The technique is quick, safe, and cost effective.
doi:10.4103/2006-8808.135135
PMCID: PMC4090986  PMID: 25013544
Hollow mill; stripped screws; titanium locked plates; titanium plates
36.  Prevalence and Correlates of Insomnia and Obstructive Sleep Apnea in Chronic Kidney Disease 
Background:
Poor sleep quality, insomnia, and restless legs syndrome (RLS) and sleep apnea are common in patients with chronic kidney disease (CKD). Clinical correlates of these problems are poorly understood.
Aims:
This study was to find out the prevalence and correlates of insomnia and subjects with ‘high risk for obstructive sleep apnea (OSA)’ in adults with chronic kidney disease.
Materials and Methods:
One hundred and four adults with CKD were included. Their demographic data, details regarding kidney disease and hemodialysis (HD) were recorded. Presence of insomnia and its severity was assessed. They were screened for sleep apnea using a validated questionnaire.
Results:
Average age was 54.17 (± 12.96) years. 89.4% had stage 5 nephropathy and 78.8% subjects were on regular HD. Males outnumbered females. Insomnia was reported by 35.5%. Among these, 50% had chronic insomnia. Insomnia subjects had higher prevalence of diabetes (P = 0.01) and depression (P < 0.001). Fifty-one percent subjects were at “high risk for sleep apnea”. They had higher prevalence of diabetes (P < 0.001), coronary disease (P = 0.02), insomnia (P = 0.008), and experienced daytime symptoms of insomnia (P < 0.001). However, in the logistic regression, only male gender (odds ratio, OR = 13.59) and daytime symptoms of insomnia (OR = 7.34) were found to be associated with “higher risk for sleep apnea”.
Conclusion:
Insomnia was prevalent in CKD. Nearly half of these patients are at high risk for sleep apnea and a third of them suffer from insomnia. Hence, these patients should be screened for sleep disorders.
doi:10.4103/1947-2714.122306
PMCID: PMC3877437  PMID: 24404542
Chronic kidney disease; Hemodialysis; Insomnia; Obstructive sleep apnea
37.  Narcolepsy or Sleep Apnea?: Not Everything is What it Appears to be! 
doi:10.3389/fneur.2013.00152
PMCID: PMC3792551  PMID: 24115943
excessive daytime sleepiness; elderly; narcolepsy; rapid eye movement; multiple sleep latency test; sleep apnea; sleep onset REM periods; epworth sleepiness scale
38.  CTCF binding site sequence differences are associated with unique regulatory and functional trends during embryonic stem cell differentiation 
Nucleic Acids Research  2013;42(2):774-789.
CTCF (CCCTC-binding factor) is a highly conserved multifunctional DNA-binding protein with thousands of binding sites genome-wide. Our previous work suggested that differences in CTCF’s binding site sequence may affect the regulation of CTCF recruitment and its function. To investigate this possibility, we characterized changes in genome-wide CTCF binding and gene expression during differentiation of mouse embryonic stem cells. After separating CTCF sites into three classes (LowOc, MedOc and HighOc) based on similarity to the consensus motif, we found that developmentally regulated CTCF binding occurs preferentially at LowOc sites, which have lower similarity to the consensus. By measuring the affinity of CTCF for selected sites, we show that sites lost during differentiation are enriched in motifs associated with weaker CTCF binding in vitro. Specifically, enrichment for T at the 18th position of the CTCF binding site is associated with regulated binding in the LowOc class and can predictably reduce CTCF affinity for binding sites. Finally, by comparing changes in CTCF binding with changes in gene expression during differentiation, we show that LowOc and HighOc sites are associated with distinct regulatory functions. Our results suggest that the regulatory control of CTCF is dependent in part on specific motifs within its binding site.
doi:10.1093/nar/gkt910
PMCID: PMC3902912  PMID: 24121688
39.  REM sleep behavior disorder in Parkinson's disease: A case from India confirmed with polysomnographic data 
Rapid eye movement (REM) sleep behavior disorder is a condition characterized by dream enactment. This condition may accompany neurodegenerative disorders. However, only a few reports from India are available, that too, without any polysomnographic evidence. We are reporting a case of REM sleep behavior disorder with polysomnographic evidence.
doi:10.4103/0976-3147.116422
PMCID: PMC3808072  PMID: 24174810
Parkinson's diasease; polysomnography; REM sleep behavior disorder
40.  Serum iron may not be linked with migraine 
doi:10.4103/0972-2327.116959
PMCID: PMC3788319  PMID: 24101855
41.  Pucker sign in proximal humeral fractures: implications on management 
Fracture of the surgical neck of humerus in young patients is a relatively rare injury. We reviewed the available material on the topic and identified puckering at the shoulder in high-energy fracture of the surgical neck as a finding which has been reported infrequently but signifies a need for open reduction. We present a review of the literature on the subject and our similar experience in two young males who had puckering and ecchymosis at the shoulder.
doi:10.1007/s11751-013-0162-y
PMCID: PMC3732668  PMID: 23737123
Surgical neck humerus fracture; Puckering; Dimpling; Buttonholing; Open reduction
42.  Resuscitation Promoting Factors: a Family of Microbial Proteins in Survival and Resuscitation of Dormant Mycobacteria 
Indian Journal of Microbiology  2011;52(2):114-121.
Mycobacterium tuberculosis, the causative agent of tuberculosis (TB), is an extraordinarily successful pathogen of humankind. It has been estimated that up to one-third of the world’s population is infected with M. tuberculosis, and this population is an important reservoir for disease reactivation. Resuscitation promoting factor (Rpf) is a secretory protein, which was first reported in Micrococcus luteus. There are five functionally redundant Rpf-like proteins found in M. tuberculosis. Rpf promotes the resuscitation of dormant bacilli to yield normal, viable colony forming bacteria. All Rpfs share a conserved domain of about 70 amino acids and possess a lysozyme-like activity. The structural studies of the conserved domain suggest that Rpfs could be considered as a c-type lysozyme and lytic transglycosylases. Recently a novel class of nitrophenylthiocyanates (NPT) inhibitors of the muralytic activity of Rpf were reported which opens a new approach in the study of cell-wall hydrolyzing enzymes. This review describes molecular and structural studies conducted on Rpf proteins, their role in the resuscitation of dormant bacteria, in the reactivation of latent infection and identification of low molecular weight inhibitors of resuscitation promoting factors.
doi:10.1007/s12088-011-0202-6
PMCID: PMC3386435  PMID: 23729870
Rpf; Latency; Dormancy; NPT; Antimicrobial compound
43.  Prevalence of obstructive sleep apnea in surgical patients presenting to a tertiary care teaching hospital in India: A preliminary study 
Saudi Journal of Anaesthesia  2013;7(2):155-159.
Background:
Obstructive sleep apnea (OSA) is often not diagnosed in patients presenting for surgical procedures thereby increasing the incidence of adverse perioperative course. Early diagnosis of this disease is important in modifying anesthetic management as well as utilizing specific means which may decrease the complications and improve the patient outcome.
Methods:
Patients greater than eighteen years of age, ASA I-III scheduled for elective surgical procedures under anesthesia were randomly selected. Their demographic data, diagnosis and nature of surgery were noted in a semi-structured performa. They were then screened for the presence of OSA with the help of a STOP BANG questionnaire.
Results:
This study included two hundred four patients randomly selected. Slight female predominance was seen in this sample (55.4%). Mean age of the subjects was 42.7 years (SD=15.08). 24.5% subjects were at high risk for OSA (STOP-BANG>3) with a male predominance (72% versus 37% in low risk group; X2=18.62; P<0.001). High risk OSA subjects had higher prevalence of cardiovascular risk factors (57% vs. 11.7% in low risk group; X2=33.35; P<0.001). Similarly, this group had a higher prevalence of asthma and chronic obstructive pulmonary disease (COPD) (14% versus 3.8% in low risk group; X2=6.54; P=0.03). Prevalence of diabetes mellitus (22%) and hypothyroidism (6%) was also higher in this group (5.2% and 1.9% in low risk group respectively; X2=15.42; P<0.001).
Conclusion:
High degree of suspicion and knowledge of association of OSA and medical diseases may help in detection of such cases and decrease the rate of perioperative complications thus improving patients safety.
doi:10.4103/1658-354X.114072
PMCID: PMC3737691  PMID: 23956715
Anaesthesia; complication; obstructive sleep apnea; STOP BANG
44.  Conservative Management of Chronic Aortic Dissection with Underlying Aortic Aneurysm 
Heart International  2013;8(1):e4.
Aortic dissection is one of the most common aortic emergencies affecting around 2000 Americans each year. It usually presents in the acute state but in a small percentage of patients aortic dissections go unnoticed and these patients survive without any adequate therapy. With recent advances in medical care and diagnostic technologies, aortic dissection can be successfully managed through surgical or medical options, consequently increasing the related survival rate. However, little is known about the optimal long-term management of patients suffering from chronic aortic dissection. The purpose of the present report is to review aortic dissection, namely its pathology and the current diagnostic tools available, and to discuss the management options for chronic aortic dissection. We report a patient in which chronic aortic dissection presented with recurring episodes of vomiting and also discuss the management plan of our patient who had a chronic aortic dissection as well as an underlying aortic aneurysm.
doi:10.4081/hi.2013.e4
PMCID: PMC3805168  PMID: 24179638
chronic aortic aneurysm; aortic dissection; medical; surgical; management
45.  Prevalence of restless leg syndrome in subjects with depressive disorder 
Indian Journal of Psychiatry  2013;55(1):70-73.
Background:
Restless legs syndrome (RLS) is known to be associated with depression. We hypothesized that RLS in depression is linked to the severity, duration, and frequency of depressive episodes.
Materials and Methods:
Subjects fulfilling DSM-IV-TR criteria of depressive disorders were included in this study after seeking informed consent. Using structured interview of MINI-Plus their demographic data and history were recorded. Severity of depression was assessed with the help of HAM-D. Insomnia was diagnosed following ICSD-2 criteria. RLS was diagnosed according to IRLSSG criteria. Descriptive statistics, Chi-square test, independent sample t test and MANOVA were computed with the help of SPSS v 17.0.
Results:
RLS was reported by 31.48% of sample. There was no gender difference in prevalence of RLS (X2 =0.46; P=0.33). There was no difference in the age , total duration of depressive illness and number of depressive episodes between RLS and non-RLS groups (F=0.44; P=0.77; Wilk's Lambda=0.96). The HAM-D score was higher in the non-RLS group (P=0.03). Onset of RLS symptoms was not related to onset of depressive symptoms.
Conclusion:
RLS is prevalent in depressive disorder. However, onset of RLS is unrelated to age and number or duration of depressive disorders.
doi:10.4103/0019-5545.105515
PMCID: PMC3574459  PMID: 23439849
Adults; depression; prevalance; restless leg syndrome
46.  Restlessness in right upper limb as sole presentation of restless legs syndrome 
Restless legs syndrome (RLS) rarely affects the upper limb during the initial course of disease. We present a patient who complained of symptoms suggesting RLS in the right upper limb as the sole manifestation of illness. Bilateral cervical ribs and depression were co-incidental findings. Patient responded well to dopaminergic therapy.
doi:10.4103/0976-3147.105625
PMCID: PMC3579060  PMID: 23546363
Cervical ribs; depression; restless leg syndrome
47.  Hindi translation and validation of dysfunctional beliefs and attitudes about sleep (DBAS - 16) 
Industrial Psychiatry Journal  2013;22(1):80-85.
Objectives:
The objective of this study is to translate and validate the Dysfunctional Beliefs and Attitudes about Sleep Brief Version (DBAS-16)) in Hindi language.
Materials and Methods:
The scale was obtained online, and the permission for translation was obtained from the author. The translation of the scale was carried out following back translation method. The scale was applied on 63 participants attending the adult psychiatry OPD who were included in the study.
Results:
Thirty-two patients were having insomnia, and 31 patients were controls without insomnia. The results show that the translated version had good reliability with internal consistency (Chronbach alpha = 0.901).
Conclusion:
The Hindi translation of DBAS-16 is a reliable tool for assessing the dysfunctional beliefs and attitude about sleep.
doi:10.4103/0972-6748.123639
PMCID: PMC3895320  PMID: 24459381
Attitudes; dysfunctional beliefs; sleep; translation
48.  Estimation of Gene Expression at Isoform Level from mRNA-Seq Data by Bayesian Hierarchical Modeling 
Frontiers in Genetics  2012;3:239.
mRNA-Seq is a precise and highly reproducible technique for measurement of transcripts levels and yields sequence information of a transcriptome at a single nucleotide base-level thus enabling us to determine splice junctions and alternative splicing events with high confidence. Often analysis of mRNA-Seq data does not attempt to quantify the expressions at isoform level. In this paper our objective would be use the mRNA-Seq data to infer expression at isoform level, where splicing patterns of a gene is assumed to be known. A Bayesian latent variable based modeling framework is proposed here, where the parameterization enables us to infer at various levels. For example, expression variability of an isoform across different conditions; the model parameterization also allows us to carry out two-sample comparisons, e.g., using a Bayesian t-test, in addition simple presence or absence of an isoform can also be estimated by the use of the latent variables present in the model. In this paper we would carry out inference on isoform expression under different normalization techniques, since it has been recently shown that one of the most prominent sources of variation in differential call using mRNA-Seq data is the normalization method used. The statistical framework is developed for multiple isoforms and easily extends to reads mapping to multiple genes. This could be achieved by slight conceptual modifications in definitions of what we consider as a gene and what as an exon. Additionally proposed framework can be extended by appropriate modeling of the design matrix to infer about yet unknown novel transcripts. However such attempts should be made judiciously since the input date used in the proposed model does not use reads from splice junctions.
doi:10.3389/fgene.2012.00239
PMCID: PMC3536024  PMID: 23293650
mRNA-Seq; isoform expression; Bayesian latent variable modeling; multi-sample comparison; Bayesian t-test; spike-n-slab method
50.  Supratentorial primitive neuroectodermal tumor in an adult: a case report and review of the literature 
Introduction
Supratentorial primitive neuroectodermal tumors predominantly occur in children, and are rare in the adult population. Less than 100 cases of supratentorial primitive neuroectodermal tumor have been reported in adults internationally. Our case study reports this rare incident.
Case presentation
A 22-year-old Hispanic man presented with headaches, blurry vision, diplopia, intermittent vomiting, and grossly decreased vision. A magnetic resonance image showed a left posterior parietal heterogeneously enhancing mass measuring 4.2cm × 7.2cm × 7.0cm. After craniotomy for resection and decompression, the mass was histologically revealed to be a supratentorial primitive neuroectodermal tumor. Standardized immunohistochemical studies for this mass were carried out.
Conclusion
We have concluded that immunohistochemical and genetic workup should be included in the standardized pathological workup for primitive neuroectodermal tumors in order to provide more prognostic information. Based on our current literature review, we propose an immunohistochemical panel.
doi:10.1186/1752-1947-6-361
PMCID: PMC3492070  PMID: 23095172

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