Abstract: In the field of epidemiology, Genome Wide Association Studies (GWAS) are commonly used to identify genetic predispositions of many human diseases. Large repositories housing biological specimen for clinical and genetic investigations have been established to store biological material and clinical data for these studies. The logistics of specimen collection and sample storage can be onerous, and new strategies have to be explored. This study examines the use of a sample collection and storage system known as FTATM for a GWAS application using the Illumina high throughput genotyping platform. For these applications, the quality of DNA is important. Although fragmented DNA results in poor reads, these can be improved with a whole genome amplification step prior to genotyping. A GWAS analysis performed on the amplified DNA showed that there was no significant difference in call rate between amplified genomic DNA extracted from FTATM cards when compared to fragmented DNA from whole blood. The use of FTATM sourced DNA increased the call rate of the samples (mean of 96.6%) when compared with fragmented DNA which showed a low number of SNP calls affecting the call rate (mean of 42.6%). This study establishes the utility of FTATM cards as a viable storage matrix for cells from which DNA can be extracted to perform GWAS analysis.

Abstract: In this study we investigated the role of iconicity in Taiwan Sign Language (TSL) by using a production task. Some phonology of signs is to resemble the actions, objects, or characteristics they represent. We reasoned that activation of relevant physical features of a concept facilitate phonological retrieval of a sign because of the similarity between these two. Immediate and delayed picture naming were used for investigating these issues. In Experiment 1A, we investigated picture immediate and delayed signing in deaf people and immediate and delayed naming in the normal. Reaction time difference of immediate and delayed conditions was shorter for signing than for naming, suggesting a quicker access to TSL lexicon. Furthermore, only in TSL, RT difference in high iconic signs was shorter than the difference in low iconic signs, reflecting that the closer relationship of signs and object physical properties the faster deaf signers accessed their sign lexicon. In Experiment 2, sign language interpreters were included for controlling the variety of language experience. The results showed similar pattern to Experiment 1. The research reasons that iconicity might play an important role for lexical access in TSL.

Abstract: Disorders of sex development with birth of an infant with ambiguous genitalia require medical attention to elucidate the differential diagnosis. This group of disorders is not uncommon in Egypt (1:3000 live births). In this study we provide an extensive review of a patient collective with ambiguous genitalia from 6 years experience at the Department of Clinical Genetics at the National Research Center in Egypt. Moreover, a first pilot study was conducted in Great Cairo and Kalioubia Governerates in 2007 showing the relatively high incidence of disorder of sexual development (DSD) and genital abnormalities. Two hundred and eight patients with ambiguous genitalia were recruited from the genetic clinic from 2000-2005. They were subjected to history taking, pedigree analysis. Full clinical examination, cytogenetic study, hormonal, radiological investigations, and molecular studies were performed when possible. 46,XY DSD was more common than 46,XX DSD constituting 65.9% of total cases. Consanguinity was high with 61% in the affected families, however, only 21 cases had a positive family history. There was preference of male sex of rearing (regardless of karyotype), despite severe degree of ambiguity. In Egypt, Disorders of sex development have a broad range of underlying causes with some preference of rare monogenic disorders. For improving diagnostic standards, the provision of centers of tertiary pediatric care is recommended for patients with DSD even in developing countries.

Abstract: Two of the most radical changes that have occurred in the last 20 years ? and even moreso in only the last five to ten years ? are exponential advances in audio/visual capture and dissemination technology and the rapid increase in public interest in our environment. With this paper I will explore the intersection between these two trends and discuss what it means to people of science. Whether audio/visual recording and distribution means the simplest documentation of an experiment, a news story, the production of a television show, the making of a documentary, the posting of a webcast, or the production of a fictional feature film on environmental issues, it is those closest to the research itself, those most intimate with the facts, that should be keenly aware of the importance of public awareness, the technological capabilities and venues of distribution available, the cultural and societal impact of subject and aesthetic choices, the reception of audiences, as well as the moral issues and value judgments involved. We have become a media dependent as well as a media savvy society. Those in environmental studies should have the opportunity to understand and utilize audio-visual communication in all its forms.

Abstract: Food legumes, either summer or winters have been associated with marginal inputs and interest since their domestication. Pakistan enjoys four distinguish seasons a year that favour to produce winter as well as summer legumes. Winter legumes consists of chickpea (Cicer arietinum L.), lentils (Lens culinaris), peas (Pisum sativum), grass pea (Lathyrus sativus) and faba bean (Vicia faba), whereas summer legumes are mungbean (Vigna radiata), black gram (Vigna mungo), cowpea (Vigna unguiculata) and moth bean (Vigna oconotifolium). Common bean (Phaseolus vulgaris) is confined to high mountainous region of northern areas ranging the altitude 1000 to 2400 m. These legumes have been collected and preserved in the gene bank as active collection (short duration, 10 oC, 20 years), base collection (medium term, 5 oC, 50 years) and original collection (long term,?20 oC, more than 50 years). The number preserved in the gene bank is 2243 (chickpea), 805 (lentil), 645 (peas), 99 (lathyrus), 58 (faba bean), 712 (mungbean), 647 (black gram), 192 (cowpea), 66 (moth bean) and 102 (common bean). About 90% of summer legumes and 60% winter legumes have been characterized and evaluated. The germplasm of black gram (340 accessions), mungbean (260 accessions), lentil (350 accessions), chickpea (350 accessions), wild chickpea (40 accessions), peas (345 accessions), cowpea (173 accessions) and wild Vigna spp. (one accession) have been evaluated for total seed protein profiling. Except peas and wild chickpea, a low level of genetic diversity was observed for all the material evaluated. Forty accessions of wild chickpea were evaluated for total seed proteins that indicated high level of genetic diversity as compared with cultivated chickpea. This situation lead to use of DNA markers, therefore 40 accessions of black gram, 17 of lentil and 40 of pea were analyzed for RAPD that gave higher level of genetic diversity than SDS-PAGE. It was concluded that SDS-PAGE could confidently be used for identification of various species of legumes (Vigna radiata vs V. mungo; Lens vs Vicia), whereas this technique did not prove efficient for investigating intra-specific identification and it was assumed that SDS-PAGE may define a small portion of genetic diversity in legumes. Legume genetic resources are required to be characterized and evaluated along with protein and DNA markers for predicted utilization and better gene bank management. Comprehensive data will lead to establishment of core collections and enable researchers to eliminate duplications from the collections and to minimize labor and cost involved in crop improvement program. Low genetic diversity coupled with low stability is a characteristic for most of the legumes that could be minimized by developing a sound linkage between various stakeholder including CGIAR centers for legumes development program.

Abstract: According to some authors number naming involves the mediation of semantic codes, however other authors claim that number naming could involve two routes, a semantic route and an asemantic one. Even between those that defend the existence of two routes there is some disagreement, for some of them the asemantic route is slow while according to others it could be fast. Two lexical decision experiments were conducted to examine phonological activation of Arabic digit numbers in Spanish. Arabic numbers were presented as primes and its phonology could be related to target words phonology, by sharing many phonemes with it (e.g., prime: 7, /siete/ in Spanish, target: sierra), or unrelated (e.g., prime: 2, /dos/ in Spanish, target: sierra). In experiment 1 a SOA of 50 was employed; in experiment 2 a SOA of 116. Fifty participants took part in each experiment. Results showed that target words were primed by Arabic digit numbers that shared part of the target words phonology but only when the short SOA was employed. The observed phonological priming is consistent with proposals that arabic number naming involves an early activation of phonology.