109 research outputs found
Crystallisation route map
A route map for the assessment of crystallisation processes is presented. A theoretical background on solubility, meta-stable zone width, nucleation and crystal growth kinetics is presented with practical examples. The concepts of crystallisation hydrodynamics and the application of population balances and computational fluid dynamics for modelling crystallisation processes and their scaling up are also covered
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family.Methods: Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP) markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2) were sequenced to screen for segregating mutations. Results: Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions: The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2) does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, Jozef Gecz, Shane R Durkin, Jamie E Craig and Kathryn P Burdo
Characteristics Associated with Citation Rate of the Medical Literature
BACKGROUND: The citation rate for articles is viewed as a measure of their importance and impact; however, little is known about what features of articles are associated with higher citation rate. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a cohort study of all original articles, regardless of study methodology, published in the Lancet, JAMA, and New England Journal of Medicine, from October 1, 1999 to March 31, 2000. We identified 328 articles. Two blinded, independent reviewers extracted, in duplicate, nine variables from each article, which were analyzed in both univariable and multivariable linear least-squares regression models for their association with the annual rate of citations received by the article since publication. A two-way interaction between industry funding and an industry-favoring result was tested and found to be significant (p = 0.02). In our adjusted analysis, the presence of industry funding and an industry-favoring result was associated with an increase in annual citation rate of 25.7 (95% confidence interval, 8.5 to 42.8) compared to the absence of both industry funding and industry-favoring results. Higher annual rates of citation were also associated with articles dealing with cardiovascular medicine (13.3 more; 95% confidence interval, 3.9 to 22.3) and oncology (12.6 more; 95% confidence interval, 1.2 to 24.0), articles with group authorship (11.1 more; 95% confidence interval, 2.7 to 19.5), larger sample size and journal of publication. CONCLUSIONS/SIGNIFICANCE: Large trials, with group authorship, industry-funded, with industry-favoring results, in oncology or cardiology were associated with greater subsequent citations
C2 and CFB Genes in Age-Related Maculopathy and Joint Action with CFH and LOC387715 Genes
BackgroundAge-related maculopathy (ARM) is a common cause of visual impairment in the elderly populations of industrialized countries and significantly affects the quality of life of those suffering from the disease. Variants within two genes, the complement factor H (CFH) and the poorly characterized LOC387715 (ARMS2), are widely recognized as ARM risk factors. CFH is important in regulation of the alternative complement pathway suggesting this pathway is involved in ARM pathogenesis. Two other complement pathway genes, the closely linked complement component receptor (C2) and complement factor B (CFB), were recently shown to harbor variants associated with ARM.Methods/principal findingsWe investigated two SNPs in C2 and two in CFB in independent case-control and family cohorts of white subjects and found rs547154, an intronic SNP in C2, to be significantly associated with ARM in both our case-control (P-value 0.00007) and family data (P-value 0.00001). Logistic regression analysis suggested that accounting for the effect at this locus significantly (P-value 0.002) improves the fit of a genetic risk model of CFH and LOC387715 effects only. Modeling with the generalized multifactor dimensionality reduction method showed that adding C2 to the two-factor model of CFH and LOC387715 increases the sensitivity (from 63% to 73%). However, the balanced accuracy increases only from 71% to 72%, and the specificity decreases from 80% to 72%.Conclusions/significanceC2/CFB significantly influences AMD susceptibility and although accounting for effects at this locus does not dramatically increase the overall accuracy of the genetic risk model, the improvement over the CFH-LOC387715 model is statistically significant
Wolbachia infections that reduce immature insect survival: Predicted impacts on population replacement
<p>Abstract</p> <p>Background</p> <p>The evolutionary success of <it>Wolbachia </it>bacteria, infections of which are widespread in invertebrates, is largely attributed to an ability to manipulate host reproduction without imposing substantial fitness costs. Here, we describe a stage-structured model with deterministic immature lifestages and a stochastic adult female lifestage. Simulations were conducted to better understand <it>Wolbachia </it>invasions into uninfected host populations. The model includes conventional <it>Wolbachia </it>parameters (the level of cytoplasmic incompatibility, maternal inheritance, the relative fecundity of infected females, and the initial <it>Wolbachia </it>infection frequency) and a new parameter termed relative larval viability (<it>RLV</it>), which is the survival of infected larvae relative to uninfected larvae.</p> <p>Results</p> <p>The results predict the <it>RLV </it>parameter to be the most important determinant for <it>Wolbachia </it>invasion and establishment. Specifically, the fitness of infected immature hosts must be close to equal to that of uninfected hosts before population replacement can occur. Furthermore, minute decreases in <it>RLV </it>inhibit the invasion of <it>Wolbachia </it>despite high levels of cytoplasmic incompatibility, maternal inheritance, and low adult fitness costs.</p> <p>Conclusions</p> <p>The model described here takes a novel approach to understanding the spread of <it>Wolbachia </it>through a population with explicit dynamics. By combining a stochastic female adult lifestage and deterministic immature/adult male lifestages, the model predicts that even those <it>Wolbachia </it>infections that cause minor decreases in immature survival are unlikely to invade and spread within the host population. The results are discussed in relation to recent theoretical and empirical studies of natural population replacement events and proposed applied research, which would use <it>Wolbachia </it>as a tool to manipulate insect populations.</p
A probability-conserving cross-section biasing mechanism for variance reduction in Monte Carlo particle transport calculations
In Monte Carlo particle transport codes, it is often important to adjust
reaction cross sections to reduce the variance of calculations of relatively
rare events, in a technique known as non-analogous Monte Carlo. We present the
theory and sample code for a Geant4 process which allows the cross section of a
G4VDiscreteProcess to be scaled, while adjusting track weights so as to
mitigate the effects of altered primary beam depletion induced by the cross
section change. This makes it possible to increase the cross section of nuclear
reactions by factors exceeding 10^4 (in appropriate cases), without distorting
the results of energy deposition calculations or coincidence rates. The
procedure is also valid for bias factors less than unity, which is useful, for
example, in problems that involve computation of particle penetration deep into
a target, such as occurs in atmospheric showers or in shielding
Strong isolation by distance argues for separate population management of endangered blue duck (Hymenolaimus malacorhynchos)
FEEDING-BEHAVIOR IN SEXUAL AND CLONAL STRAINS OF POECILIOPSIS
Sexual and clonal fish of the genus Poeciliopsis occur together in desert streams of Sonora, Mexico. Their coexistence has been explained in terms of niche partitioning for food and space. We examined predatory behavior that might influence niche relationships, and found significant differences among two coexisting sperm-dependent clonal strains and their two sexual progenitors. Handling time and prey manipulation of free-swimming (Artemia) and benthic (chironomid larvae) prey differed significantly among sexual and clonal strains. Analyses of gut contents from field-collected fish revealed that the laboratory estimates of predatory efficiency were related to their feeding behavior in nature. Behavior differences, such as those described herein, contribute to our understanding of the mechanisms of unisexual/bisexual coexistence in Poeciliopsis.</p
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