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Background and Objective: TRIV is a new and promising technique based on the fact that Vulva can be divided into three circular zones based on anatomy, embryology, and histology- Outer, Middle, and Inner ring. The Vulvoscopy Index and N-S-P scheme are objective tools to improve the systematization of vulvoscopy findings and to simplify information management using TRIV. Methods: Hundred women with vulvar complaints (Cases) and 100 asymptomatic women (Controls) underwent TRIV and findings were documented as per N-S-P Scheme and Vulvoscopy Index. Biopsy was taken from specific lesions. Vulvar disorders were categorized into 5 categories based on histology and clinical findings—Vulvodynia, Impaired vulvar skin, Vulvar dermatosis, pre-malignant lesions of the vulva, and others. Results: According to N-S-P scheme most common formulas were- N–N-N for Normal vulva, P-P-P for vulvar dermatoses, and N-S–N for Impaired Vulvar skin. The mean Vulvoscopy index was 4.33 ± 0.52 for Impaired vulvar skin, 6.11 ± 2.87 for vulvodynia, 24 ± 6.04 for pre-malignant lesions of vulva, and 25.17 ± 4.31 for vulvar dermatosis. The sensitivity, specificity, and diagnostic accuracy of the Vulvoscopy Index for detecting vulvar disorders were 100%, 96.51%, and 98.50%, respectively. The positive and negative predictive values were 0.97 and 1.00, respectively. Conclusion: The Vulvoscopy Index is a significant predictor for vulvar disorders. N-S-P scheme helps in the objective and systematic documentation of TRIV findings, which allows monitoring of the vulvar changes. TRIV can be used for preventing early stages of vulvar dermatosis which is a risk factor for vulvar malignancy. [ABSTRACT FROM AUTHOR]

Toxic human amylin (hA) oligomers and aggregates are implicated in the pathogenesis of type 2 diabetes mellitus (T2DM). Although recent studies demonstrated a causal connection between hA uptake and toxicity in pancreatic cells, the mechanism of amylin's clearance following its internalization and its relationship to toxicity is yet to be determined, and hence was investigated here. Using pancreatic rat insulinoma β-cells and human islets as model systems, we show that hA, following its internalization, first accumulates in the cytosol followed by its translocation into nucleus, and to a lesser extent lysosomes, keeping the net cytosolic amylin content low. An increase in hA accumulation in the nucleus of pancreatic cells correlated with its cytotoxicity, suggesting that its excessive accumulation in the nucleus is detrimental. hA interacted with 20S core and 19S lid subunits of the β-cell proteasomal complex, as suggested by immunoprecipitation and confocal microscopy studies, which subsequently resulted in a decrease in the proteasome's proteolytic activity in these cells. In vitro binding and activity assays confirmed an intrinsic and potent ability of amylin to interact with the 20S core complex thereby modulating its proteolytic activity. Interestingly, less toxic and aggregation incapable rat amylin (rA) showed a comparable inhibitory effect on proteasome activity and protein ubiquitination, decoupling amylin aggregation/ toxicity and amylin-induced protein stress. In agreement with these studies, inhibition of proteasomal proteolytic activity significantly increased intracellular amylin content and toxicity. Taken together, our results suggest a pivotal role of proteasomes in amylin's turnover and detoxification in pancreatic cells. [ABSTRACT FROM AUTHOR]

The central nervous system is derived from the neural plate, which undergoes a series of complex morphogenetic events resulting in formation of the neural tube in a process known as neurulation. The cellular behaviors driving neurulation in the cranial region involve forces generated by the neural tissue itself as well as the surrounding epithelium and mesenchyme. Of interest, the cranial mesenchyme underlying the neural plate undergoes stereotypical rearrangements hypothesized to drive elevation of the neural folds. As the neural folds rise, the hyaluronate-rich extracellular matrix greatly expands resulting in increased space between individual cranial mesenchyme cells. Based on inhibitor studies, expansion of the extracellular matrix has been implicated in driving neural fold elevation; however, because the surrounding neural and epidermal ectoderm were also affected by inhibitor exposure, these studies are inconclusive. Similarly, treatment of neurulating embryos with teratogenic doses of retinoic acid results in altered organization of the cranial mesenchyme, but alterations in surrounding tissues are also observed. The strongest evidence for a critical role for the cranial mesenchyme in neural fold elevation comes from studies of genes expressed exclusively in the cranial mesenchyme that when mutated result in exencephaly associated with abnormal organization of the cranial mesenchyme. Twist is the best studied of these and is expressed in both the paraxial mesoderm and neural crest derived cranial mesenchyme. In this article, we review the evidence implicating the cranial mesenchyme in providing a driving force for neural fold elevation to evaluate whether there are sufficient data to support this hypothesis. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

We have used restriction site-dependent polymerase chain reaction (PCR)-based methodology for detection of the α-globin polyadenylation (poly A) signal mutation, AATAAA>AATA- - and Hb Sun Prairie [α130(H13)Ala→Pro, GCT>CCT (α2)] mutation. The former mutation produces Hb H disease in the homozygous state and occurs frequently in the Indian population. It was detected in nine of 77 putative α-thalassemia (α-thal) patients and in three of 13 β-thal intermedia patients tested. Four of the nine α-thal patients were homozygotes for the mutation. The Hb Sun Prairie mutation was confirmed in two α-thal patients, one of whom was a homozygote and the other a heterozygote. [ABSTRACT FROM AUTHOR]

We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, - -KOL, in the heterozygous state, encompassing the embryonic zeta2-globin and the duplicated alpha-globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha-thalassaemia patients are −3·7 kb (16·25%), −4·2 kb (5%) and - -SEA (3·33%). [ABSTRACT FROM AUTHOR]

Haemoglobin (Hb) Sun Prairie (α2-globin cd130,CT→CT, Ala→Pro) is detected in three unrelated chromosomes, in association with a C→T transition in the 5′-untranslated region (UTR), two bases upstream from the translation start site. Reported inversion ofα/β-mRNA ratio observed in Hb Sun Prairie mutants might stem from the second mutation and should be investigated. Molecular modelling studies indicate that the 130th residue ofα-globin faces primarily the central cavity of the molecule and is not in contact with anyβ-chain residue; further, no significant disruption of the Hb structure because of the Sun Prairie mutation is discernible. Depression of translation because of the second mutation of a conserved base in the 5′-UTR might explain the observed clinical severity. [ABSTRACT FROM AUTHOR]

Objective To control the birth of thalassemic children in India. Methods Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the β-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique. Results Six hundred and fifty (650) unrelated β-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for β-thalassemia. Conclusion The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia. Copyright © 2004 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

1. In this paper information regarding the various spore-forms of Ganoderma lucidum has been presented. 2. It has been found that besides the normal basidiospores, two other spore types also occur in the fructifications of the fungus collected from Nature or produced in artificial culture. These are 'secondary spores' and 'gasterospores'. 3. Characteristic features of all the spore types have been fully described and their modes of origin noted. 4. All the three types of spores are more or less identical to each other in appearance. But the secondary spores have endospores less verrucose than the endospores of the other two types, whereas the gasterospores are characterised by two opposite notches in their exospores. [ABSTRACT FROM AUTHOR]

Autism (MIM 209850) is a multifactorial disorder with a broad clinical presentation. A number of high-confidence ASD risk genes are known; however, the contribution of non-genetic environmental factors towards ASD remains largely uncertain. Here, we present a bioinformatics resource of genetic and induced models of ASD developed using a shared annotation platform. Using this data, we depict the intricate trends in the research approaches to analyze rodent models of ASD. We identify the top 30 most frequently studied phenotypes extracted from rodent models of ASD based on 787 publications. As expected, many of these include animal model equivalents of the "core" phenotypes associated with ASD, such as impairments in social behavior and repetitive behavior, as well as several comorbid features of ASD including anxiety, seizures, and motor-control deficits. These phenotypes have also been studied in models based on a broad range of environmental inducers present in the database, of which gestational exposure to valproic acid (VPA) and maternal immune activation models comprising lipopolysaccharide (LPS) and poly I:C are the most studied. In our unique dataset of rescue models, we identify 24 pharmaceutical agents tested on established models derived from various ASD genes and CNV loci for their efficacy in mitigating symptoms relevant for ASD. As a case study, we analyze a large collection of Shank3 mouse models providing a high-resolution view of the in vivo role of this high-confidence ASD gene, which is the gateway towards understanding and dissecting the heterogeneous phenotypes seen in single-gene models of ASD. The trends described in this study could be useful for researchers to compare ASD models and to establish a complete profile for all relevant animal models in ASD research. [ABSTRACT FROM AUTHOR]