The genetics of glaucoma

This article reviews the patterns of inheritance associated with glaucoma, how the genes linked to glaucoma have been located and identified and considers how the effect of some of these genes could lead to glaucoma.

The realisation of JSD specifications in object oriented languages

Jackson System Development (JSD) is an operational software development method which addresses most of the software lifecycle either directly or by providing a framework into which more specialised techniques can fit. The method has two major phases: first an abstract specification is derived that is in principle executable; second the specification is implemented using a variety of transformations. The object oriented paradigm is based on data abstraction and encapsulation coupled to an inheritance architecture that is able to support software reuse. Its claims of improved programmer productivity and easier program maintenance make it an important technology to be considered for building complex software systems. The mapping of JSD specifications into procedural languages typified by Cobol, Ada, etc., involves techniques such as inversion and state vector separation to produce executable systems of acceptable performance. However, at present, no strategy exists to map JSD specifications into object oriented languages. The aim of this research is to investigate the relationship between JSD and the object oriented paradigm, and to identify and implement transformations capable of mapping JSD specifications into an object oriented language typified by Smalltalk-80. The direction which the transformational strategy follows is one whereby the concurrency of a specification is removed. Two approaches implementing inversion - an architectural transformation resulting in a simulated coroutine mechanism being generated - are described in detail. The first approach directly realises inversions by manipulating Smalltalk-80 system contexts. This is possible in Smalltalk-80 because contexts are first class objects and are accessible to the user like any other system object. However, problems associated with this approach are expounded. The second approach realises coroutine-like behaviour in a structure called a `followmap'. A followmap is the results of a transformation on a JSD process in which a collection of followsets is generated. Each followset represents all possible state transitions a process can undergo from the current state of the process. Followsets, together with exploitation of the class/instance mechanism for implementing state vector separation, form the basis for mapping JSD specifications into Smalltalk-80. A tool, which is also built in Smalltalk-80, supports these derived transformations and enables a user to generate Smalltalk-80 prototypes of JSD specifications.

Accessing networked services : a user interface design problem

This research investigates the general user interface problems in using networked services. Some of the problems are: users have to recall machine names and procedures to. invoke networked services; interactions with some of the services are by means of menu-based interfaces which are quite cumbersome to use; inconsistencies exist between the interfaces for different services because they were developed independently. These problems have to be removed so that users can use the services effectively. A prototype system has been developed to help users interact with networked services. This consists of software which gives the user an easy and consistent interface with the various services. The prototype is based on a graphical user interface and it includes the following appJications: Bath Information & Data Services; electronic mail; file editor. The prototype incorporates an online help facility to assist users using the system. The prototype can be divided into two parts: the user interface part that manages interactlon with the user; the communicatIon part that enables the communication with networked services to take place. The implementation is carried out using an object-oriented approach where both the user interface part and communication part are objects. The essential characteristics of object-orientation, - abstraction, encapsulation, inheritance and polymorphism - can all contribute to the better design and implementation of the prototype. The Smalltalk Model-View-Controller (MVC) methodology has been the framework for the construction of the prototype user interface. The purpose of the development was to study the effectiveness of users interaction to networked services. Having completed the prototype, tests users were requested to use the system to evaluate its effectiveness. The evaluation of the prototype is based on observation, i.e. observing the way users use the system and the opinion rating given by the users. Recommendations to improve further the prototype are given based on the results of the evaluation. based on the results of the evah:1ation. . .'. " "', ':::' ,n,<~;'.'

An integrated view of data quality in earth observation

Data quality is a difficult notion to define precisely, and different communities have different views and understandings of the subject. This causes confusion, a lack of harmonization of data across communities and omission of vital quality information. For some existing data infrastructures, data quality standards cannot address the problem adequately and cannot full all user needs or cover all concepts of data quality. In this paper we discuss some philosophical issues on data quality. We identify actual user needs on data quality, review existing standards and specification on data quality, and propose an integrated model for data quality in the eld of Earth observation. We also propose a practical mechanism for applying the integrated quality information model to large number of datasets through metadata inheritance. While our data quality management approach is in the domain of Earth observation, we believe the ideas and methodologies for data quality management can be applied to wider domains and disciplines to facilitate quality-enabled scientific research.

Economic transition in Central Europe and the Commonwealth of Independent States

Fifteen years ago, twenty-seven countries in Europe and Central Asia embarked on their economic transition paths. For some, the outcome was a considerable success. Several others are still struggling to shed the inheritance of the past and to correct more recent policy mistakes. Why were post-Communist recessions so long in some countries and growth disappointing? Why was fiscal performance so different? Was democracy a factor, which facilitated reforms or rather slowed them down? This book discusses these questions in the context of new empirical evidence, including a critical examination of the main themes in the economics of transition.

About Ontology Application to the Description of Syllabus

Publication describes the experience in application of ontology technique to structuring of educational materials. Several topics of physics were formalized by means of Protégé software tool. Some principal problems in building of knowledge structure were found, so the discussion may interest not only ontology users, but also the developers of ontology tools.

Review and Outlooks of the Means for Visualization of Syntax Semantics and Source Code. Procedural and Object Oriented Paradigm – Differences

In the article, we have reviewed the means for visualization of syntax, semantics and source code for programming languages which support procedural and/or object-oriented paradigm. It is examined how the structure of the source code of the structural and object-oriented programming styles has influenced different approaches for their teaching. We maintain a thesis valid for the object-oriented programming paradigm, which claims that the activities for design and programming of classes are done by the same specialist, and the training of this specialist should include design as well as programming skills and knowledge for modeling of abstract data structures. We put the question how a high level of abstraction in the object-oriented paradigm should be presented in simple model in the design stage, so the complexity in the programming stage stay low and be easily learnable. We give answer to this question, by building models using the UML notation, as we take a concrete example from the teaching practice including programming techniques for inheritance and polymorphism.

On Y-Linked Genes and Bisexual Branching Processes

2000 Mathematics Subject Classification: 60J80.

Horizontal genetic transfer in asexual fungi

Four aspects of horizontal genetic transfer during heterokaryon formation were examined in the asexual pathogen Fusarium oxysporum f.sp. cubense (Foc): (1) variability based on method of heterokaryon formation; (2) differences in nuclear and mitochondrial inheritance; (3) the occurrence of recombination without nuclear fusion; (4) the occurrence of horizontal genetic transfer between distantly related isolates. The use of non-pathogenic strains of Fusarium oxysporum as biocontrol agents warrants a closer examination at the reproductive life cycle of this fungus, particularly if drug resistance or pathogenicity genes can be transmitted horizontally. Experiments were divided into three phases. Phase I looked at heterokaryon formation by hyphal anastomosis and protoplast fusion. Phase II was a time course of heterokaryon formation to look at patterns of nuclear and mitochondrial inheritance. Phase III examined the genetic relatedness of the different vegetative compatibility groups using a multilocus analysis approach. Heterokaryon formation was evident within and between vegetative compatibility groups. Observation of non-parental genotypes after heterokaryon formation confirmed that, although a rare event, horizontal genetic transfer occurred during heterokaryon formation. Uniparental mitochondria inheritance was observed in heterokaryons formed either by hyphal anastomosis or protoplast fusion. Drug resistance was expressed during heterokaryon formation, even across greater genetic distances than those distances imposed by vegetative compatibility. Phylogenies inferred from different molecular markers were incongruent at a significant level, challenging the clonal origins of Foc. Mating type genes were identified in this asexual pathogen Polymorphisms were detected within a Vegetative Compatibility Group (VCG) suggesting non-clonal inheritance and/or sexual recombination in Foc. This research was funded in part by a NIH-NIGMS (National Institutes of Health-National Institute of General Medical Sciences) Grant through the MBRS (Minority Biomedical Research Support), the Department of Biological Sciences and the Tropical Biology Program at FIU. ^

The Enchanter's Spell: J.R.R. Tolkien's Mythopoetic Response to Modernism

J.R.R. Tolkien was not only an author of fantasy but also a philologist who theorized about myth. Theorists have employed various methods of analyzing myth, and this thesis integrates several analyses, including Tolkien’s. I address the roles of doctrine, ritual, cross-cultural patterns, mythic expressions in literature, the literary effect of myth, evolution of language and consciousness, and individual invention over inheritance and diffusion. Beyond Tolkien’s English and Catholic background, I argue for eclectic influence on Tolkien, including resonance with Buddhism. Tolkien views mythopoeia, literary mythmaking, in terms of sub-creation, human invention in the image of God as creator. Key mythopoetic tools include eucatastrophe, the happy ending’s sudden turn to poignant joy, and enchantment, the realization of imagined wonder, which is epitomized by the character of Tom Bombadil and contrasted with modernist techno-magic seeking to alter and dominate the world. I conclude by interpreting Tolkien’s mythmaking as a form of mysticism.

Effects of ocean acidification on embryonic respiration and development of a temperate wrasse living along a natural CO2 gradient

Volcanic CO2 seeps provide opportunities to investigate the effects of ocean acidification on organisms in the wild. To understand the influence of increasing CO2 concentrations on the metabolic rate (oxygen consumption) and the development of ocellated wrasse early life stages, we ran two field experiments, collecting embryos from nesting sites with different partial pressures of CO2 [pCO2; ambient (400 µatm) and high (800-1000 µatm)] and reciprocally transplanting embryos from ambient- to high-CO2 sites for 30 h. Ocellated wrasse offspring brooded in different CO2 conditions had similar responses, but after transplanting portions of nests to the high-CO2 site, embryos from parents that spawned in ambient conditions had higher metabolic rates. Although metabolic phenotypic plasticity may show a positive response to high CO2, it often comes at a cost, in this case as a smaller size at hatching. This can have adverse effects because smaller larvae often exhibit a lower survival in the wild. However, the adverse effects of increased CO2 on metabolism and development did not occur when embryos from the high-CO2 nesting site were exposed to ambient conditions, suggesting that offspring from the high-CO2 nesting site could be resilient to a wider range of pCO2 values than those belonging to the site with present-day pCO2 levels. Our study identifies a crucial need to increase the number of studies dealing with these processes under global change trajectories and to expand these to naturally high-CO2 environments, in order to assess further the adaptive plasticity mechanism that encompasses non-genetic inheritance (epigenetics) through parental exposure and other downstream consequences, such as survival of larvae.

Um estudo sobre o perfil sexual e reprodutivo das adolescentes de um serviço de referência no município de Natal/RN

Adolescence is seen as a phase of life marked by a series of physical and behavioral changes, which leads to certain risk situations, such as early sexual activity, pregnancy and the occurrence of sexually transmitted diseases. Based on this statement, this research aimed generally: meet the sexual and reproductive adolescents of a reference service in Natal profile. Specifically describe the socioeconomic, sexual and reproductive individual and family characteristics of the population in question, but also verify possible association between pregnancy and age of onset of sexual activity with the socioeconomic aspects. The sectional study conducted in the database from the records of 463 adolescents seeking care in a referral center in Sexual and Reproductive Health in the period March 2011 to June 2012. The data collected were subjected to analysis by Excel 2007 and Statistical Package for Social Sciences (SPSS) 17.0. For data analysis, descriptive statistics, with absolute numbers and percentages was used, and its presentation by means of distribution and frequency tables. Results showed that the parents of these adolescents (65.7% - father; 57.8% - mother), had primary education; family income less than two minimum wages (66.2%); any type of chemical dependency in the family (33.5%) and presence of domestic violence (20.6%). A higher probability of pregnancy was verified when the mother had only primary education (26.3%), persons other than the father or mother contributed to family income (33.3%) and (26%) when there was substance abuse in the family early onset of sexual activity was observed when the mother had primary education (57.3%), persons other than the father or mother contributed to family income (63.1%) and the use of drugs / alcohol as a problem family (67.6%). It was concluded that such vulnerabilities appear as a reflection of the low social status of these young people, aggravated by emotional inheritance that is offered to every individual from birth. These findings may perhaps, support public health surveillance policies for adolescents in several areas

Dançando a carne: uma poética do corpo no mito adâmico

In this dissertation we reflect about sensitive the dimension of the body, which enables us to participate in mythical space and set him as a potential space for artistic creation in dance, experience provider in senses for world, for life and for existence. It´s a written, thrashing some reflections on the human condition from a gaze cast upon the myth of Adam, leading us to think about the possible relationships between art and myth in contemporary times, as fields of knowledge open to creation, and semantic spaces able to assign new meanings to living through the pulsations of a body that is myth and what is dance. One of the goals of this study is set up a new point of view to analyze the Adam's myth, enabling to new interpretations, meanings and understandings from the experience in the process of creation in contemporary dance. Therefore, methodologically reference is made in the Phenomenology, or rather the phenomenological attitude proposed by Merleau-Ponty (1994), which considers the experience of the body as the primary source of knowledge. Dipping on this process of creation in contemporary dance, one artistic and choreographic work was originated, titled "The Body I am”, in contemplation of this dance that echoes the mystery, that emerges from the depths of the body, and it brings to the human surface and your world, your relationships. Realize that dance is as a sensitive guide and counselor reflections ontological and epistemological, able to validate and perpetuate the myth whereas ancestral wisdom inheritance.

Dissecting the Functional Impacts of Non-Coding Genetic Variation

A large proportion of the variation in traits between individuals can be attributed to variation in the nucleotide sequence of the genome. The most commonly studied traits in human genetics are related to disease and disease susceptibility. Although scientists have identified genetic causes for over 4,000 monogenic diseases, the underlying mechanisms of many highly prevalent multifactorial inheritance disorders such as diabetes, obesity, and cardiovascular disease remain largely unknown. Identifying genetic mechanisms for complex traits has been challenging because most of the variants are located outside of protein-coding regions, and determining the effects of such non-coding variants remains difficult. In this dissertation, I evaluate the hypothesis that such non-coding variants contribute to human traits and diseases by altering the regulation of genes rather than the sequence of those genes. I will specifically focus on studies to determine the functional impacts of genetic variation associated with two related complex traits: gestational hyperglycemia and fetal adiposity. At the genomic locus associated with maternal hyperglycemia, we found that genetic variation in regulatory elements altered the expression of the HKDC1 gene. Furthermore, we demonstrated that HKDC1 phosphorylates glucose in vitro and in vivo, thus demonstrating that HKDC1 is a fifth human hexokinase gene. At the fetal-adiposity associated locus, we identified variants that likely alter VEPH1 expression in preadipocytes during differentiation. To make such studies of regulatory variation high-throughput and routine, we developed POP-STARR, a novel high throughput reporter assay that can empirically measure the effects of regulatory variants directly from patient DNA. By combining targeted genome capture technologies with STARR-seq, we assayed thousands of haplotypes from 760 individuals in a single experiment. We subsequently used POP-STARR to identify three key features of regulatory variants: that regulatory variants typically have weak effects on gene expression; that the effects of regulatory variants are often coordinated with respect to disease-risk, suggesting a general mechanism by which the weak effects can together have phenotypic impact; and that nucleotide transversions have larger impacts on enhancer activity than transitions. Together, the findings presented here demonstrate successful strategies for determining the regulatory mechanisms underlying genetic associations with human traits and diseases, and value of doing so for driving novel biological discovery.

Age determination of the Vendian intrusions in the polar Urals

The Precambrian basement beneath the Pechora Basin of northern Russia is known from deep (up to approx. 4.5 km) drill holes to be largely composed of Neoproterozoic successions, variously deformed and metamorphosed and intruded by magmatic suites of Vendian age. Presented here are new single- zircon, Pb-evaporation (Kober method) ages from eight intrusions across the Izhma, Pechora and Bolshezemel'skaya Zones, all from below the Lower Ordovician (locally Middle Cambrian) unconformity. The majority of the intrusions (six) yield remarkably similar ages of 550-560 Ma, apparently dating a widespread pulse of late- to post-tectonic magmatism. An early Vendian granite (618 Ma) has been identified in the northeasternmost region (Bolshezemel'skaya zone) and a Devonian granodiorite (380 Ma) in the Pechora Zone, where mid to late Palaeozoic magmatism has been previously reported. Evidence of inheritance in the zircon populations suggests the presence of Mesoproterozoic crust beneath the Neoproterozoic complexes.