Prenatal genotyping of Gaucher disease in Egypt

Objective: To use chorionic villi sampling (CVS) and amniocentesis to determine the genotyping of Gaucher Disease (GD) of fetuses of pregnant mothers who had a previous child affected by GD.Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 10–12 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 14–16 weeks. Strip assay for the identification of Glucocerebrosidase (GBA) gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction (PCR) and reverse hybridization.Results: The age of the studied pregnant women ranged from 19 to 26 years. Consanguinity was present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous (N370s/N370s) while two cases were heterogeneous (L444P/D409H). Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P.Conclusion: This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P.Keywords: Gaucher diseases; Prenatal diagnosis; Egypt; Gene; Mutatio

Quantum non-malleability and authentication

In encryption, non-malleability is a highly desirable property: it ensures that adversaries cannot manipulate the plaintext by acting on the ciphertext. Ambainis, Bouda and Winter gave a definition of non-malleability for the encryption of quantum data. In this work, we show that this definition is too weak, as it allows adversaries to "inject" plaintexts of their choice into the ciphertext. We give a new definition of quantum non-malleability which resolves this problem. Our definition is expressed in terms of entropic quantities, considers stronger adversaries, and does not assume secrecy. Rather, we prove that quantum non-malleability implies secrecy; this is in stark contrast to the classical setting, where the two properties are completely independent. For unitary schemes, our notion of non-malleability is equivalent to encryption with a two-design (and hence also to the definition of Ambainis et al.). Our techniques also yield new results regarding the closely-related task of quantum authentication. We show that "total authentication" (a notion recently proposed by Garg, Yuen and Zhandry) can be satisfied with two-designs, a significant improvement over the eight-design construction of Garg et al. We also show that, under a mild adaptation of the rejection procedure, both total authentication and our notion of non-malleability yield quantum authentication as defined by Dupuis, Nielsen and Salvail.Comment: 20+13 pages, one figure. v2: published version plus extra material. v3: references added and update

Markedly Divergent Tree Assemblage Responses to Tropical Forest Loss and Fragmentation across a Strong Seasonality Gradient

We examine the effects of forest fragmentation on the structure and composition of tree assemblages within three seasonal and aseasonal forest types of southern Brazil, including evergreen, Araucaria, and deciduous forests. We sampled three southernmost Atlantic Forest landscapes, including the largest continuous forest protected areas within each forest type. Tree assemblages in each forest type were sampled within 10 plots of 0.1 ha in both continuous forests and 10 adjacent forest fragments. All trees within each plot were assigned to trait categories describing their regeneration strategy, vertical stratification, seed-dispersal mode, seed size, and wood density. We detected differences among both forest types and landscape contexts in terms of overall tree species richness, and the density and species richness of different functional groups in terms of regeneration strategy, seed dispersal mode and woody density. Overall, evergreen forest fragments exhibited the largest deviations from continuous forest plots in assemblage structure. Evergreen, Araucaria and deciduous forests diverge in the functional composition of tree floras, particularly in relation to regeneration strategy and stress tolerance. By supporting a more diversified light-demanding and stress-tolerant flora with reduced richness and abundance of shade-tolerant, old-growth species, both deciduous and Araucaria forest tree assemblages are more intrinsically resilient to contemporary human-disturbances, including fragmentation-induced edge effects, in terms of species erosion and functional shifts. We suggest that these intrinsic differences in the direction and magnitude of responses to changes in landscape structure between forest types should guide a wide range of conservation strategies in restoring fragmented tropical forest landscapes worldwide

Habitat Fragmentation, Variable Edge Effects, and the Landscape-Divergence Hypothesis

Edge effects are major drivers of change in many fragmented landscapes, but are often highly variable in space and time. Here we assess variability in edge effects altering Amazon forest dynamics, plant community composition, invading species, and carbon storage, in the world's largest and longest-running experimental study of habitat fragmentation. Despite detailed knowledge of local landscape conditions, spatial variability in edge effects was only partially foreseeable: relatively predictable effects were caused by the differing proximity of plots to forest edge and varying matrix vegetation, but windstorms generated much random variability. Temporal variability in edge phenomena was also only partially predictable: forest dynamics varied somewhat with fragment age, but also fluctuated markedly over time, evidently because of sporadic droughts and windstorms. Given the acute sensitivity of habitat fragments to local landscape and weather dynamics, we predict that fragments within the same landscape will tend to converge in species composition, whereas those in different landscapes will diverge in composition. This ‘landscape-divergence hypothesis’, if generally valid, will have key implications for biodiversity-conservation strategies and for understanding the dynamics of fragmented ecosystems

Variations in hospital standardised mortality ratios (HSMR) as a result of frequent readmissions

BACKGROUND: We investigated the impact that variations in the frequency of readmissions had upon a hospital's standardised mortality ratio (HSMR). An adapted HSMR model was used in the study. Our calculations were based on the admissions of 70 hospitals in The Netherlands during the years 2005 to 2009. METHODS: Through a retrospective analysis of routinely collected hospital data, we calculated standardised in-hospital mortality ratios both by hospital and by diagnostic group (H/SMRs) using two different models. The first was the Dutch 2010 model while the second was the same model but with an additional adjustment for the readmission frequency. We compared H/SMR outcomes and the corresponding quality metrics in order to test discrimination (c-statistics), calibration (Hosmer-Lemeshow) and explanatory power (pseudo-R2 statistic) for both models. RESULTS: The SMR outcomes for model 2 compared to model 1, varied between -39% and +110%. On the HSMR level these variations ranged from -12% to +11%. There was a substantial disagreement between the models with respect to significant death on the SMR level as well as the HSMR level (~ 20%). All quality metrics comparing both models were in favour of model 2. The susceptibility to adjustment for readmission increased for longer review periods. CONCLUSIONS: The 2010 HSMR model for the Netherlands was sensitive to adjustment for the frequency of readmissions. A model without this adjustment, as opposed to a model with the adjustment, produced substantially different HSMR outcomes. The uncertainty introduced by these differences exceeded the uncertainty indicated by the 95% confidence intervals. Therefore an adjustment for the frequency of readmissions should be considered in The Netherlands, since such a model showed more favourable quality metric characteristics compared to a model without such an adjustment. Other countries could well benefit from a similar adjustment to their models. A review period of the data collected over the last three years, at least, is advisable. (aut.ref.

The role of asymmetric interactions on the effect of habitat destruction in mutualistic networks

Plant-pollinator mutualistic networks are asymmetric in their interactions: specialist plants are pollinated by generalist animals, while generalist plants are pollinated by a broad involving specialists and generalists. It has been suggested that this asymmetric ---or disassortative--- assemblage could play an important role in determining the equal susceptibility of specialist and generalist plants under habitat destruction. At the core of the argument lies the observation that specialist plants, otherwise candidates to extinction, could cope with the disruption thanks to their interaction with generalist pollinators. We present a theoretical framework that supports this thesis. We analyze a dynamical model of a system of mutualistic plants and pollinators, subject to the destruction of their habitat. We analyze and compare two families of interaction topologies, ranging from highly assortative to highly disassortative ones, as well as real pollination networks. We found that several features observed in natural systems are predicted by the mathematical model. First, there is a tendency to increase the asymmetry of the network as a result of the extinctions. Second, an entropy measure of the differential susceptibility to extinction of specialist and generalist species show that they tend to balance when the network is disassortative. Finally, the disappearance of links in the network, as a result of extinctions, shows that specialist plants preserve more connections than the corresponding plants in an assortative system, enabling them to resist the disruption.Comment: 14 pages, 7 figure

Systems biological and mechanistic modelling of radiation-induced cancer

This paper summarises the five presentations at the First International Workshop on Systems Radiation Biology that were concerned with mechanistic models for carcinogenesis. The mathematical description of various hypotheses about the carcinogenic process, and its comparison with available data is an example of systems biology. It promises better understanding of effects at the whole body level based on properties of cells and signalling mechanisms between them. Of these five presentations, three dealt with multistage carcinogenesis within the framework of stochastic multistage clonal expansion models, another presented a deterministic multistage model incorporating chromosomal aberrations and neoplastic transformation, and the last presented a model of DNA double-strand break repair pathways for second breast cancers following radiation therapy

Emergency placement of a self-expandable covered stent for carotid artery injury during trans-sphenoidal surgery

A patient sustained internal carotid artery (ICA) injury during trans-sphenoidal surgery. Bleeding from the resultant pseudo-aneurysm was not fully controlled by surgical packing. Emergency endovascular deployment over the injured ICA segment of a self-expandable covered-stent ('Symbiot' stent), initially designed for use in coronary saphenous vein-graft, was successful in securing haemostasis.postprin

Habitat fragmentation and the future structure of tree assemblages in a fragmented Atlantic forest landscape

The biodiversity value of human-modified landscapes has become a central question in the tropical forest conservation biology, yet the degree to which plant populations and communities are restructured in response to environmental change remains unclear. Here, we address tree species density in a fragmented Atlantic forest landscape to test the hypothesis that tree assemblages inhabiting edge-dominated forest habitats approach typical conditions of early successional systems. Seedlings and adults from 141 tree species were sampled across 39 0.1-ha plots: 19 in small fragments (55 % of all tree species exhibiting higher densities in small fragments than in mature forest, particularly pioneers (>60 % of all species). Seedlings and adults of these proliferating species differed from species exhibiting population declines in terms of wood density and seed size, respectively. Additionally, pioneers were more abundant than shade-tolerant species, as were hardwood species in the case of seedlings. Tree species showing highest population increases consisted largely of long-lived, light-demanding canopy species bearing soft or hardwood and small-to-medium-sized seeds. Tree assemblage structure also differed in terms of forest habitats with small forest fragments supporting few rare species, whereas the most rapidly proliferating species were much more widespread and abundant in fragments. However, 60 % of all adult pioneer species recorded in small fragments were not recorded as seedlings in this habitat type, although both seedling and adult assemblages were dominated by pioneer species. Edge-dominated tree assemblages are likely to experience long-term shifts toward greater dominance of long-lived, pioneer canopy species

Concentration and localization of zinc during seed development and germination in wheat

In a field experiment, the effect of foliar Zn applications on the concentration of Zn in seeds of a bread wheat cultivar (Triticum aestivum L. cv. Balatilla) was studied during different stages of seed development. In addition, a staining method using dithizone (DTZ: diphenyl thiocarbazone) was applied to (1) study the localization of Zn in seeds, (2) follow the remobilization of Zn during germination, and (3) develop a rapid visual Zn screening method for seed and flour samples. In all seed development stages, foliar Zn treatments were effective in increasing seed Zn concentration. The highest Zn concentration in the seeds was found in the first stage of seed development (around the early milk stage); after this, seed Zn concentration gradually decreased until maturity. When reacting with Zn, DTZ forms a redcolored complex. The DTZ staining of seed samples revealed that Zn is predominantly located in the embryo and aleurone parts of the seeds. After 36 h of germination, the coleoptile and roots that emerged from seeds showed very intensive red color formation and had Zn concentrations up to 200 mg kg1, indicating a substantial remobilization of Zn from seed pools into the developing roots (radicle) and coleoptile. The DTZ staining method seems to be useful in ranking flour samples for their Zn concentrations. There was a close relationship between the seed Zn concentrations and spectral absorbance of the methanol extracts of the flour samples stained with DTZ. The results suggest that (1) accumulation of Zn in seeds is particularly high during early seed development, (2) Zn is concentrated in the embryo and aleurone parts, and (3) the DTZ staining method can be used as a rapid, semiquantitative method to estimate Zn concentrations of flour and seed samples and to screen genotypes for their Zn concentrations in seeds