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Crabs are significant invertebrates in the Subansiri River basin, one of the major sub-basins of the Brahmaputra valley in northeast India. They have immense ecological and economic value and provide an alternative source of income for the local inhabitants. Following thirteen sites in the Subansiri River basin were surveyed to determine the availability and diversity of crab species in this region: Hatinala, Kalma river, Dikrong river, Senki river, Poma river, Harmuti, Ranganadi river dam site, Diju stream, Lower Subansiri river, Downstream Ranganadi, Pani gaon wetlands, Bosa gaon beel, and Bhelamora beel. Crab samples were collected using a random sampling method and identified using standard taxonomic keys. Seven species from two families were identified and distinguished by their morphology and habitat preferences: Sartoriana spinigera, Sartoriana trilobata, Maydelliathelphusa lugubris, Maydelliathelphusa harpax, Liotelphusa laevis (Gecarcinucidae) Lobothelphusa woodmasoni, and Acanthopotamon horai (Potamidae). These crabs are thought to be endemic to the Eastern Himalayan region due to their limited dispersibility. This is the first study aimed at contributing to the documentation and conservation of freshwater crabs in North East India. Additionally, the economic relevance of freshwater crabs is highlighted.

ObjectiveThe association between periconceptional parental exposure to endocrine-disrupting chemicals (EDCs) and hypospadias remains inconclusive and controversial. Therefore, we conducted a hospital-based retrospective study to assess the relationship between hypospadias risk and parental occupational exposure to potential EDCs.MethodsIncident cases (n=73) were boys between 0 and 14 years diagnosed with hypospadias with no micropenis or cryptorchidism. Controls (n=146) were an age-matched group of boys without any congenital malformations, inguinal hernia, nephrological, urological and genital disorders. Their selection was independent of exposures to EDCs. Data on parental occupation and sociodemographic variables were collected using a structured questionnaire. We evaluated parental occupational exposures using a previously validated job-exposure matrix (JEM) for EDCs.ResultsIn our case–control study, 30.1% of all pregnancies had likely exposure to potential EDCs. The most prevalent occupations conferring possible exposure were related to activities on farms. Maternal and paternal occupational exposure to potential EDCs significantly increased the risk of mild hypospadias than moderate-to-severe hypospadias (OR=6.55 vs OR=4.63). Among various categories, parental occupational exposure to pesticides was associated with at least a twofold increased risk of hypospadias. Maternal EDC exposure during the first trimester significantly increased the risk of bearing a hypospadiac child (OR=4.72 (95% CI 2.10 to 10.60)).ConclusionThis study suggests that EDCs are a risk factor for hypospadias through occupational exposure during fetal life.

BACKGROUND While leukocyte telomere length has been linked with altered risk in adult cancer, limited information is available on its association with risk in pediatric solid tumors. We investigated the association of telomeric alterations with risk of pediatric solid tumors. We also investigated whether altered telomeres cooperated with the TP53 rs1042522, MDM2 rs2279744 and CDKN1A (p21cip1 ) rs1059234 single-nucleotide polymorphisms to modify cancer risk. METHODS A total of 101 tumor patients and 202 controls were recruited for this age- and gender-matched case-control study. Relative telomere length (RTL) was determined in peripheral blood leukocytes using quantitative real-time polymerase chain reaction (PCR), and the polymorphisms were genotyped using PCR-restriction fragment length polymorphism. RESULTS Using median RTL in the healthy controls as a cut-off, children with longer telomeres were at an increased risk of developing a solid tumor (OR, 2.70; P

Neurocysticercosis is a significant cause of epilepsy in the tropics. The present cross-sectional survey was conducted in the socioeconomically backward tea garden community of Assam to gauge the prevalence of neurocysticercosis in patients with active epilepsy and to determine the associated risk factors. In a door to door survey, a total of 1028 individuals from every fifth household of the study Teagarden were enrolled to identify self-reported seizure cases, followed by a neurological examination to confirm the diagnosis of active epilepsy. Patients with active epilepsy underwent clinical, epidemiological, neuroimaging (contrast-enhanced computerized tomography) and immunological evaluations to establish the diagnosis of neurocysticercosis. Clinically confirmed 53 (5.16%) active epilepsy were identified; 45 agreed to further assessment for neurocysticercosis and 19 (42.2%) cases fulfilled either definitive or probable diagnostic criteria for neurocysticercosis. Patients with epilepsy due to neurocysticercosis were more likely to suffer from taeniasis (20.0% vs 0.0%), rear pigs (57.9% vs 15.4%) or have pigs in their neighbourhood (78.9% vs 53.8%) relative to epileptic patients without neurocysticercosis. Rearing pigs (aOR 14.35, 95% CI: 3.98–51.75) or having pigs in the neighbourhood (aOR 12.34, 95% CI: 2.53–60.31) were independent risk factors of neurocysticercosis. In this community, the prevalence of taeniasis (adult worm infection) was 6.6% based on microscopy. The study reports a high prevalence of active epilepsy in the tea garden community of Assam and neurocysticercosis as its primary cause. The high prevalence of taeniasis is also a significant concern.

Neurocysticercosis (NCC) is a parasitic disease of the central nervous system, which is caused by the metacestode of the pork tapeworm,Over a period of 2 years, 152 active epilepsy patients were investigated based on clinical, epidemiological, neuroimaging (contrast-enhanced computerized tomography), and immunological techniques to establish the diagnosis of NCC. A precoded questionnaire was administered to patients and/or guardians to collect detailed medical history.Ninety-three cases (61.2%) fulfilled either definitive or probable diagnostic criteria for NCC. Anti-cysticercus immunoglobulin G antibodies were detected by ELISA and enzyme electro-immune transfer blot in 69 (45.4%) active epilepsy patients. Seroprevalence was higher in males, 46.6% (54/116); than in females, 41.7% (15/36), and increased significantly with age; peaking in the 20-39 years age group (36/76; χThis study indicates that NCC is a major cause of active epilepsy in Assam. A high prevalence of pediatric NCC is also a major concern.

CD14 is a multifunctional pattern recognition receptor, which works in concert with several other toll-like receptors and activates downstream immune response. As CD14 polymorphisms have been associated with several diseases, a study of non-synonymous SNPs will be useful in understanding disease pathogenesis and developing molecular diagnostics. Out of 155 non-synonymous SNPs, 10 high-risk nsSNPs were identified using six different predictive algorithms, which were further examined structurally. The ConSurf server was used to derive the conservation scores of amino acids and identify structural and functional residues. Six of these high-risk nsSNPs – rs745518361, rs751442680, rs754968319, rs756150689, rs764993455 and rs767220208 were within the lysine-rich repeat domain of CD14, which facilitates protein-protein interactions. Putative phosphorylation, sumoylation and ubiquitination sites were also investigated using NetPhos, GPS, GPS-SUMO, SUMO Plot, BDM-PUB and UbPred servers. 6 high-risk SNPs were identified at conserved phosphorylation sites which could affect CD14 signaling. Protein-protein interaction analysis revealed association between CD14 and other mediators of innate immunity including lipopolysaccharide binding protein, Toll-like receptor 1 (TLR1), TLR2, TLR4, TLR6 and Integrins. In conclusion, our data suggests that disruption of CD14 structure by SNPs rs767220208, rs745518361, rs754968319, rs764993455 and rs749260147 could affect activation of the innate immunity.

Purpose Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. Materials & Methods Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects. Psychological assessment was done by evaluating intelligence and temperament. Results Single-stage repair was performed in 38 children, and two underwent multistage repair. Major postoperative complications were noted in three individuals. The follow-up period ranged from 12 to 168 months, and during this time the growth velocity declined significantly among group II and group III patients when compared with control subjects. After adjusting the body mass index for age, our data revealed that group III participants had a significantly ( P = 0.02) lower body mass index than the control group. Group III also had poor indices for intelligence quotient ( P ≤ 0.01) and temperament ( P ≤ 0.01). Female patients had lower temperament indices when compared with unaffected females with regard to approach withdrawal ( P ≤ 0.01), mood ( P = 0.026), and intensity ( P = 0.03). Overall, increased disease severity adversely affected the psychological indices. Conclusion Individuals with anterior encephalocele without associated intracranial defects had excellent postoperative outcomes in terms of growth and psychological developments. Hydrocephalus and agenesis of corpus callosum had the least impact on psychological development. However, the presence of secondary brain defects led to developmental delays. Gender differences in temperament may suggest a need for distinct treatment regimens to assess psychosocial well-being for males and females.

Background Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. Methods This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. A total of 40 AE cases and 80 controls were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. Results MTHFR 1298CC was significantly associated with AE risk (odds ratio [OR] 4.21; p = 0.01). The MTHFR haplotypes 677C-1298C/677T-1298A (OR, 2.50) and 677T-1298C (OR, 2.86) conferred risk in a progressive manner (χ2 = 9.82; p A was not associated with disease susceptibility. Children with the rs2236225 GA and the rs1801131 CC genotypes were at an increased risk as compared to the reference genotype of rs2236225 GG and rs1801131 AA (OR, 14.4; p = 0.02). Children with the rs2236225 GG and rs1801133 CT genotypes were also at an elevated risk (OR, 4.76; p = 0.01). The MTHFD1 polymorphism together with the MTHFR haplotypes elevated risk in a progressive manner (χ2 = 6.29; p = 0.01). Conclusion The data support our hypothesis of gene-gene interaction between MTHFD1 and MTHFR and the risk of AE. Together with the MTHFR haplotypes, MTHFD1 elevates risk in a progressive manner. The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. Birth Defects Research 109:432-444, 2017. © 2017 Wiley Periodicals, Inc.

The human NAD(P)H Quinone Oxidoreductase 1 (NQO1) gene codes for a flavoenzyme which protects cells from oxidative stress and also regulates ubiquitin-independent proteasomal degradation of several proteins including p53. Polymorphisms in NQO1 are associated with several diseases but of the thousand SNPs reported till date, only a few elevate risk. Thus during an epidemiological investigation, studying a few selected SNPs could be more justified. Computational approaches help in the identification of non-synonymous single nucleotide polymorphisms (nsSNPs) that affect protein functions and impact disease risk. The present study evaluates the structure and functional effect of all known nsSNPs of NQO1. NQO1 SNP information and their corresponding protein sequences were collected from dbSNP and UniProt databases respectively. Genomic analysis of the 75 nsSNPs was initiated using SIFT, Polyphen, SNP & GO, PROVEAN, MutPred, I-Mutant 2.0 and nsSNPAnalyzer. Protein structural analysis of select amino acid variants was performed using Phyre2, RaptorX and Swiss-PDB Viewer, molecular dynamics using GROMOS96 and root mean square deviation (RMSD) values were calculated using UCSF Chimera. We identified eight deleterious substitutions - rs11555215 (R119P), rs368942932 (L7R), rs554822773 (L113P), rs749792989 (W116L), rs764253929 (G160R), rs769655604 (W106R), rs775472154 (F102V) and rs777649241 (D41G). The NQO1 variants -R119P and G160R, were the most energetically unfavorable substitutions and could destabilize the amino acid interactions and hydrogen bond networks. The study concludes that screening for these variants especially rs11555215 and rs764253929 may be useful in understanding disease pathogenesis and developing molecular diagnostics involving the NQO1 pathways.

Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism.This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958GA (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677CT (rs1801133) and 1298AC (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. A total of 40 AE cases and 80 controls were investigated using polymerase chain reaction-restriction fragment length polymorphism technique.MTHFR 1298CC was significantly associated with AE risk (odds ratio [OR] 4.21; p = 0.01). The MTHFR haplotypes 677C-1298C/677T-1298A (OR, 2.50) and 677T-1298C (OR, 2.86) conferred risk in a progressive manner (χThe data support our hypothesis of gene-gene interaction between MTHFD1 and MTHFR and the risk of AE. Together with the MTHFR haplotypes, MTHFD1 elevates risk in a progressive manner. The minor allelic frequencies of the MTHFD1 1958GA and MTHFR 1298AC in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. Birth Defects Research 109:432-444, 2017. © 2017 Wiley Periodicals, Inc.