Blue cone monochromacy: causative mutations and associated phenotypes.

PurposeTo perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease.MethodsAffected members of three British families with BCM were examined clinically and underwent detailed electrophysiological and psychophysical testing. Blood samples were taken for DNA extraction. Molecular analysis involved the amplification of the coding regions of the long (L) and medium (M) wave cone opsin genes and the upstream locus control region (LCR) by polymerase chain reaction (PCR). Gene products were directly sequenced and analyzed.ResultsIn all three families, genetic analysis identified that the underlying cause of BCM involved an unequal crossover within the opsin gene array, with an inactivating mutation. Family 1 had a single 5'-L-M-3' hybrid gene, with an inactivating Cys203Arg (C203R) mutation. Family 3 had an array composed of a C203R inactivated 5'-L-M-3' hybrid gene followed by a second inactive gene. Families 1 and 3 had typical clinical, electrophysiological, and psychophysical findings consistent with stationary BCM. A novel mutation was detected in Family 2 that had a single hybrid gene lacking exon 2. This family presented clinical and psychophysical evidence of a slowly progressive phenotype.ConclusionsTwo of the BCM-causing family genotypes identified in this study comprised different hybrid genes, each of which contained the commonly described C203R inactivating mutation. The genotype in the family with evidence of a slowly progressive phenotype represents a novel BCM mutation. The deleted exon 2 in this family is not predicted to result in a shift in the reading frame, therefore we hypothesize that an abnormal opsin protein product may accumulate and lead to cone cell loss over time. This is the first report of slow progression associated with this class of mutation in the L or M opsin genes in BCM

Association between Loin Ultimate pH and Plasma Indicators of Pre-Slaughter Stressors in Australian Lamb

The purpose of this study was to test if associations exist between plasma indicators of acute and chronic stress and lamb ultimate pH. Blood was collected at exsanguination from 2,877 lambs from the Meat and Livestock Australia Genetic Research flock with a suite of indicators analyzed. Ultimate pH was measured in the loin (M. longissimus lumborum) at 24 h post-slaughter. There was a positive association (

Association between Loin Ultimate pH and Plasma Indicators of Pre-Slaughter Stressors in Australian Lamb

The purpose of this study was to test if associations exist between plasma indicators of acute and chronic stress and lamb ultimate pH. Blood was collected at exsanguination from 2,877 lambs from the Meat and Livestock Australia Genetic Research flock with a suite of indicators analyzed. Ultimate pH was measured in the loin (M. longissimus lumborum) at 24 h post-slaughter. There was a positive association (P < 0.05) between ultimate pH and plasma glucose and lactate concentrations, which indicates that opportunities exist to reduce variation in ultimate pH by reducing stress in the pre-slaughter period. These effects were small by comparison to production factors, however further understanding of how to best manage lambs in the pre-slaughter period is required to minimize stress and maximize lamb wellbeing and meat quality

Initial Bloom Color is a Poor Predictor of Retail Color Stability in Lamb Loin Meat

The rapid browning of lamb meat on retail display reduces its appeal to consumers and thus the marketability of lamb meat. Predicting the rate of meat browning on retail display would allow retailers to effectively manage this issue. The ability of bloomed meat color at the start of retail display to predict meat browning over subsequent retail display was investigated in lamb loin meat. Mixed breed lambs (n = 4404) produced at 5 sites over 5 yr were slaughtered at ∼23kg carcass weight and measured for loin pH at 24 h, myoglobin, iron and zinc concentrations, isocitrate dehydrogenase activity and intramuscular fat. Loin meat was aged for 5 d before being re-sliced and overwrapped for color measurement over a 72 h simulated retail display. Meat redness (R630/R580) was measured after blooming and every 24 h across display using a Hunterlab spectrophotometer. Simple and partial correlation coefficients between initial and subsequent R630/R580 measures over the display were low (≤ 0.4). Accounting for key muscle traits influencing meat color such as pH24, myoglobin, iron or intramuscular fat concentration did not improve these correlations between bloomed meat color and subsequent meat color over retail display. Therefore bloomed meat color at the start of display is not a useful predictor of meat browning after 24 h of retail display. Alternatively, correlations between 24, 48, and 72 h R630/R580 were > 0.8, suggesting that meat color measured from 24 h of display can accurately predict subsequent retail meat browning

Generation of a three-dimensional collagen scaffold-based model of the human endometrium.

The endometrium is the secretory lining of the uterus that undergoes dynamic changes throughout the menstrual cycle in preparation for implantation and a pregnancy. Recently, endometrial organoids (EO) were established to study the glandular epithelium. We have built upon this advance and developed a multi-cellular model containing both endometrial stromal and epithelial cells. We use porous collagen scaffolds produced with controlled lyophilization to direct cellular organization, integrating organoids with primary isolates of stromal cells. The internal pore structure of the scaffold was optimized for stromal cell culture in a systematic study, finding an optimal average pore size of 101 µm. EO seeded organize to form a luminal-like epithelial layer, on the surface of the scaffold. The cells polarize with their apical surface carrying microvilli and cilia that face the pore cavities and their basal surface attaching to the scaffold with the formation of extracellular matrix proteins. Both cell types are hormone responsive on the scaffold, with hormone stimulation resulting in epithelial differentiation and stromal decidualization

Transnational reflections on transnational research projects on men, boys and gender relations

This article reflects on the research project, ‘Engaging South African and Finnish youth towards new traditions of non-violence, equality and social well-being’, funded by the Finnish and South African national research councils, in the context of wider debates on research, projects and transnational processes. The project is located within a broader analysis of research projects and projectization (the reduction of research to separate projects), and the increasing tendencies for research to be framed within and as projects, with their own specific temporal and organizational characteristics. This approach is developed further in terms of different understandings of research across borders: international, comparative, multinational and transnational. Special attention is given to differences between research projects that are in the Europe and the EU, and projects that are between the global North and the global South. The theoretical, political and practical challenges of the North-South research project are discussed

Modeling views in the layered view model for XML using UML

In data engineering, view formalisms are used to provide flexibility to users and user applications by allowing them to extract and elaborate data from the stored data sources. Conversely, since the introduction of Extensible Markup Language (XML), it is fast emerging as the dominant standard for storing, describing, and interchanging data among various web and heterogeneous data sources. In combination with XML Schema, XML provides rich facilities for defining and constraining user-defined data semantics and properties, a feature that is unique to XML. In this context, it is interesting to investigate traditional database features, such as view models and view design techniques for XML. However, traditional view formalisms are strongly coupled to the data language and its syntax, thus it proves to be a difficult task to support views in the case of semi-structured data models. Therefore, in this paper we propose a Layered View Model (LVM) for XML with conceptual and schemata extensions. Here our work is three-fold; first we propose an approach to separate the implementation and conceptual aspects of the views that provides a clear separation of concerns, thus, allowing analysis and design of views to be separated from their implementation. Secondly, we define representations to express and construct these views at the conceptual level. Thirdly, we define a view transformation methodology for XML views in the LVM, which carries out automated transformation to a view schema and a view query expression in an appropriate query language. Also, to validate and apply the LVM concepts, methods and transformations developed, we propose a view-driven application development framework with the flexibility to develop web and database applications for XML, at varying levels of abstraction

Evolution of opinions on social networks in the presence of competing committed groups

Public opinion is often affected by the presence of committed groups of individuals dedicated to competing points of view. Using a model of pairwise social influence, we study how the presence of such groups within social networks affects the outcome and the speed of evolution of the overall opinion on the network. Earlier work indicated that a single committed group within a dense social network can cause the entire network to quickly adopt the group's opinion (in times scaling logarithmically with the network size), so long as the committed group constitutes more than about 10% of the population (with the findings being qualitatively similar for sparse networks as well). Here we study the more general case of opinion evolution when two groups committed to distinct, competing opinions $A$ and $B$, and constituting fractions $p_A$ and $p_B$ of the total population respectively, are present in the network. We show for stylized social networks (including Erd\H{o}s-R\'enyi random graphs and Barab\'asi-Albert scale-free networks) that the phase diagram of this system in parameter space $(p_A,p_B)$ consists of two regions, one where two stable steady-states coexist, and the remaining where only a single stable steady-state exists. These two regions are separated by two fold-bifurcation (spinodal) lines which meet tangentially and terminate at a cusp (critical point). We provide further insights to the phase diagram and to the nature of the underlying phase transitions by investigating the model on infinite (mean-field limit), finite complete graphs and finite sparse networks. For the latter case, we also derive the scaling exponent associated with the exponential growth of switching times as a function of the distance from the critical point.Comment: 23 pages: 15 pages + 7 figures (main text), 8 pages + 1 figure + 1 table (supplementary info