bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hybrid Pigment Genes, Dichromacy, and Anomalous Trichromacy
Authors: Jagla Wolfgang , Breitsprecher Tanja , Kucsera Itala , Kovacs Gyula , Wissinger Bernd , Deeb Samir S. , Sharpe Lindsay T. 
Published: April 2010

Abstract
This chapter determines the variability in genotype among anomalous trichromats and dichromats, and correlates this to their colour vision phenotype. It shows that the severity of anomalous trichromacy roughly correlates with the estimated spectral separation between the normal and the hybrid pigment. However, considerable phenotypic variability is associated with any given phenotype. The variation found with L2M3 or M3L4-hybrid genes is greater than that found with other hybrids, and cannot merely be associated with coding sequence differences in exon 2. These findings underscore an important issue in colour vision: how spectral differences between two photopigments actually translate to colour discrimination performance, and about how other retinal and cortical factors act upon photopigment differences and influence discrimination.
Preliminary Norms for the Cambridge Colour Test
Authors: Ventura D. F. , Silveira L. C. L. , Rodrigues A. R. , De Souza J. M. , Gualtieri M. , Bonci D. , Costa M. F. 
Published: April 2010

Abstract
The Cambridge Colour Test (CCT) was developed to measure hue discrimination in a spatial and luminance noise situation. However, normative data for the CCT are not available since both the original and commercial versions are fairly recent developments. This chapter presents preliminary norms and compares a self-built and the commercial version of the test. The results are compared with the Farnsworth–Munsell 100 Hue test.
Evaluation of “Colour Vision Testing Made Easy”
Authors: Dain Stephen J. 
Published: April 2010

Abstract
The ‘Colour Vision Testing Made Easy’ (CVTME) is a colour vision test specifically designed for children and based on the pseudo-isochromatic (PIC) principle. This chapter shows that the colorimetric design of the CVTME is reasonable and colour vision deficient adults are identified. Colorimetrically, the task is less demanding than Ishihara's and this is consistent with the previously identified propensity to pass very mild deuteroanomals.
Survey of the Colour Vision Demands in Fire-Fighting
Authors: Dain Stephen J. , Hughes Laura E. 
Published: April 2010

Abstract
This chapter describes a survey of colour contingent tasks with regard to colours used, redundancy of coding, and significance of error, both safety and financial. From this, researchers identified the most critical issues on the basis that the worst case sets the colour vision testing and pass criteria needed. This was carried out at the New South Wales Fire Brigades Training College and selected fire stations in Sydney with the assistance of fire-fighters at those locations.
Colour Vision in Central Serous Chorioretinopathy
Authors: MÄntyjÄrvi Maija , Maaranen Tarja 
Published: April 2010

Abstract
Central serous chorioretinopathy (CSC) is an eye disorder where serous fluid causes localized detachment of the sensory retina, most commonly in the macular area. This chapter examines colour vision in twelve patients with active CSC and after a follow-up of one and a half years.
Early Vision Loss in Diabetic Patients Assessed by the Cambridge Colour Test
Authors: Ventura D. F. , Costa M. F. , Gualtieri M. , Nishi M. , Bernick M. , Bonci D. , De Souza J. M. 
Published: April 2010

Abstract
This chapter describes the use of the Cambridge Colour Test (CCT) to measure colour vision in diabetic patients with clinically normal fundi and in age-matched controls. The results were compared with those obtained with other traditionally used tests. CCT has full clinical testability and was the most sensitive of the tests use to detect colour vision loss.
Neutral and adaptive protein evolution
Authors: YANG ZIHENG 
Published: April 2010

Abstract
This chapter introduces the basic concepts of negative and positive selection and the major theories of molecular evolution, and reviews tests of neutrality developed in population genetics. It discusses the use of codon models in phylogenetic analysis to detect positive selection driving the fixation of advantageous replacement mutations. The rest of the chapter proceeds as follows. Sections 8.3 and 8.4 consider methods to detect positive selection affecting particular lineages on the phylogeny or individual sites in the protein. Section 8.5 discusses methods aimed at detecting positive selection affecting only a few sites along particular lineages. Section 8.6 discusses assumptions and limitations of methods based on the ω ratio, in comparison with the tests of neutrality. Section 8.7 reviews examples of genes detected to be undergoing adaptive evolution.
Medically relevant variation in the human genome
Authors: Govindaraju Diddahally R. , Jorde Lynn B 
Published: April 2010

Abstract
Geneticists can now use several million markers to discover genes contributing to human disorders. Some findings confirm classical patterns on the extent and distribution of variation among populations. Others, including recombination hotspots, are completely new. Large collaborative projects have shown that linkage disequilibrium patterns vary among continental populations, with the ‘older’ African populations showing substantially less linkage disequilibrium. These resources have facilitated discovery of several genes that underlie common disease susceptibility, and suggest that a number of genes and haplotypes have been the targets of natural selection. The recombination hotspots that punctuate the human genome appear to have evolved recently and are not shared with chimpanzees. While several issues complicate the use and interpretation of these data, these new advances contribute to studies of evolutionary biology and human health, and forge stronger links between them.
Intimate relations: Evolutionary conflicts of pregnancy and childhood
Authors: Haig David 
Published: April 2010

Abstract
This chapter surveys the impact of evolutionary conflicts on maternal and fetal health in pregnancy and childhood. Some adaptations that have evolved to benefit mothers may be costly to offspring and vice versa, for natural selection can act at cross-purposes on maternal and fetal genes. For example, the typical duration of lactation in our evolutionary past was suboptimal for offspring fitness. Communication between mothers and fetuses is compromised by evolutionary incentives to send misleading signals. Mothers have evolved mechanisms for testing offspring and terminating investment in offspring of low perceived quality. Offspring have evolved features that reduce their chances of failing these tests. When fetal genes manipulate maternal physiology to increase the flow of maternal blood through the placenta, pre-eclampsia may result. The unusually large fat deposits of human babies may have provided a store of structural lipids and energy, for growth and maintenance of the infant brain.
Functional significance of MHC variation in mate choice, reproductive outcome, and disease risk
Authors: Loisel Dagan A. , Alberts Susan C. , Ober Carole 
Published: April 2010

Abstract
This chapter surveys connections between the nervous system and the immune system, and suggests that their connections mediate many significant health outcomes. The nervous and immune systems are intimately connected by shared developmental, functional and biochemical pathways. The extraordinary diversity and remarkable evolution of MHC genes have been influenced by several distinct forces, including pathogen-mediated selection, and sexual and reproductive selection. MHC diversity influences the risk and progression of infectious, reproductive, autoimmune, and inflammatory diseases. MHC genes play a significant role in olfactory communication, behavior, and mate choice in vertebrates, including humans. The unique evolution of MHC genes contributed to the prevalence of autoimmune and inflammatory diseases in modern human populations.
The ecology and evolution of antibiotic-resistant bacteria
Authors: Bergstrom Carl T. , Feldgarden Michael 
Published: April 2010

Abstract
Bacteria evolve resistance to antibiotics with near certainty after several years of widespread use. Resistance can evolve via several genetic mechanisms and spread through and between species via gene transfer. Resistance that evolves in agricultural settings can transfer into human populations. Associations among resistance genes, and the process of compensatory evolution, can cause retention of resistance genes, even in the absence of selection favoring resistance. Novel approaches to antimicrobial therapy may provide alternatives to traditional broad-spectrum antibiotics for which resistance is less quick to evolve. To eradicate antibiotic resistance from a hospital setting, researchers need a thorough understanding of the underlying ecology. For example, antibiotic cycling, the hospital equivalent of crop rotation, does not necessarily reduce the environmental heterogeneity at the scale relevant to bacterial clones spreading through the hospital and thus may be ineffective at reducing the frequency of resistant strains in a hospital setting.
The evolution and expression of virulence
Authors: Ebert Dieter , Bull James J. 
Published: April 2010

Abstract
This chapter reviews the evolution of pathogen virulence. The evolution of virulence has 3 phases. Phase 1: the first contact of host and parasite, as in accidental infections. Phase 2: the evolution towards an optimal virulence soon after successful invasion of a new host species. Phase 3: evolution of virulence after the disease is well established. Most efforts to understand, predict, and manage the evolution of virulence have been applied to phase 3. The most common model of virulence evolution assumes a simple trade-off between virulence and transmission and selection that optimizes the net transmission between hosts. Host variability affects the expression of virulence, but its impact has not been satisfactorily incorporated into the models. Untested general models should not guide attempts to manage infectious diseases.
Evolutionary origins of diversity in human viruses
Authors: Sharp Paul M. , Bailes Elizabeth , Wain Louise V 
Published: April 2010

Abstract
Our knowledge of the amount, pattern, and origins of genetic diversity varies enormously among human viruses. The four groups of viruses discussed in detail here (herpes viruses, AIDS viruses, influenza A viruses, and dengue viruses) exhibit varied patterns of diversity, with different factors important in each case. Rates of evolution vary by 5-6 orders of magnitude, from slowly evolving DNA viruses (herpes viruses), to rapidly evolving RNA viruses (AIDS and influenza A viruses). The timescales of diversification within a clade of human viruses vary by 4-5 orders of magnitude, from a few years for H3N2 influenza viruses, to perhaps 100,000 years or more for some herpes viruses. This depends on how long the viruses have been infecting humans, and whether the virus has been subject to random genetic drift, founder effects, selective sweeps of an advantageous variant, its route of transmission, and its interaction with the host immune system.
The population structure of pathogenic bacteria
Authors: Dykhuizen Daniel , Kalia Awdhesh 
Published: April 2010

Abstract
The structure of bacterial populations affects their potential to cause disease and respond to human interventions, and we can infer some of that structure from species differences in nucleotide diversity. If there is no natural selection, mutation rate and effective population size determine nucleotide diversity. Mutation rate will not usually influence species differences in nucleotide diversity. In some species an elevated mutation rate may signal that the species has undergone recent rapid evolutionary change. Recombination does not affect effective population size but does determine the effect that natural selection has on the system. Selective sweeps will eliminate diversity, while diversifying selection maintains diversity. When there is little or no recombination, selection will strongly influence nucleotide diversity generally. When there is much recombination, selection will only influence nucleotide diversity locally. Thus, the nucleotide diversity (both local and genomic) gives us information about how pathogens have adapted to changing conditions.
Evolutionary biology as a foundation for studying aging and aging-related disease
Authors: Ackermann Martin , Pletcher Scott D. 
Published: April 2010

Abstract
Aging does not have a function. It exists because individuals often die for other reasons, and therefore natural selection cannot maintain late-life performance. The rate of aging is influenced by genes that affect the allocation of resources to somatic maintenance or reproduction, and are under the control of specific regulatory pathways. Mutations in these pathways, which are shared among diverse organisms ranging from unicellular fungi to humans, can lead to significant changes in the rate of aging. Some of these conserved pathways detect environmental cues, suggesting that environmental conditions affect life-history decisions. The ability to alter investment in maintenance in response to external cues might be advantageous for organisms living in a variable environment. If conditions are harsh, increased investment in maintenance and repair would improve survival to better times. Genetic interventions may short-circuit normal processing of environmental cues and trigger life-history decisions that result in an increased lifespan.
Cancer: evolutionary origins of vulnerability
Authors: Greaves Mel 
Published: April 2010

Abstract
The origin and spread of every cancer is an evolutionary process. Clonal neoplasias are ubiquitous, and the cumulative, lifetime risk of clinical malignant cancer in homosapiens is very high (1 in 3). Clonal proliferation in cancer is a mutation-driven, cellular, evolutionary process; the genetic abnormalities arise either as inherited germ line mutations (in 10%) or as acquired mutations in stem cells. Many adaptive, beneficial biological processes inadvertently contribute positively to the emergence of cancer clones via fragility of control, trade-offs or collateral damage. The mismatch between homosapiens' exotic lifestyles and constitutive genetics greatly exacerbates the intrinsic risk derived from evolutionary ‘design’ constraints. Most cancers emerge in ageing individuals. Our socially engineered post-reproductive longevity provides the opportunity for trade-offs to escalate (antagonistic pleiotropy) but also, critically, provides the extended time for chronic exposures (via mismatches) to drive the slow evolutionary expansion of cancer clones to pathological end-points.
Cancer as a microevolutionary process
Authors: Komarova Natalia L. , Wodarz Dominik 
Published: April 2010

Abstract
Mathematical models of cancer evolution can provide helpful insights. This chapter describes a way to model cancer in which carcinogenesis is a microevolutionary process inside an organ. It uses both stochastic methods and methods of evolutionary population dynamics and focuses on two particular problems: (a) the role of genetic instability in cancer initiation and progression; and (b) the problem of resistance in cancer treatment with small molecule inhibitors. The dynamics are generated by cell reproduction and mutation, and by the selection pressures that act on the different cell variants. These dynamics can be captured in equations which yield insights into the outcome of these complex processes that would otherwise not be possible. The general message of this review is that population dynamics and evolutionary thinking can provide a new dimension to cancer research, which complements the molecular and cell-focused approach that is primarily used.
Relative Susceptibility of Selected Apple Cultivars to Apple Scab Caused by Venturia inaequalis
Authors: Biggs Alan R. , Sundin George W. , Rosenberger David A. , Yoder Keith S. , Sutton Turner B. 
Published: April 2010

Apple scab is the most important disease of apples (Malus domestica) in the cool temperate regions where apples are grown. Data were collected over several years from plantings of new apple cultivars and selections established at multiple locations in 1995 (23 entries) and 1999 (24 entries) as part of regional project NE-183. Golden Delicious and McIntosh were the standards in both plantings. Data on incidence of scab on leaves and fruit were collected and analyzed to determine differences due to location and cultivar. None of the analyses indicated significant cultivar differences due to location, likely confirming the diversity of the apple scab fungus in the eastern United States. In general, for scab on leaves, the cultivars Ginger Gold, Orin, Cripps Pink, Silken, and Delblush were as susceptible as McIntosh, a common standard for scab susceptibility in the eastern United States. For scab on fruit, the cultivars Fuji, Cameo, Cripps Pink, Ambrosia, and Silken, and the selection NJ 90, were as susceptible as McIntosh. As expected, the cultivars and selections with genetic resistance to the scab pathogen exhibited the lowest incidences of apple scab on foliage and fruit. Gala Supreme, Sansa, and Honeycrisp, while susceptible to scab, exhibited relatively low levels of the disease. Accepted for publication 2 February 2010. Published 8 April 2010.
Litigation related to regional anaesthesia: an analysis of claims against the NHS in England 1995–2007*
Authors: Szypula K. , Ashpole K. J. , Bogod D. , Yentis S. M. , Mihai R. , Scott S. , Cook T. M. 
Published: April 2010

SummaryWe analysed 366 claims related to regional anaesthesia and analgesia from the 841 anaesthesia‐related claims handled by the National Health Service Litigation Authority between 1995 and 2007. The majority of claims (281/366, 77%) were closed at the time of analysis. The total cost of closed claims was £12 724 017 (34% of the cost of the anaesthesia dataset) with a median (IQR [range]) of £4772 (£0–28 907 [£0–2 070 092]). Approximately half of the claims (186/366; 51%) were related to obstetric anaesthesia and analgesia and of the non‐obstetric claims, the majority (148/180; 82%) were related to neuraxial block. The total cost for obstetric closed claims was £5 433 920 (median (IQR [range]) £5678 (£0–27 690 [£0–1 597 565]) while that for non‐obstetric closed claims was £7 290 097 (£3337 (£0–31 405 [£0–2 070 062]). Non‐obstetric claims were more likely to relate to severe outcomes than obstetric ones. The maximum values of claims were higher for claims related to neuraxial blocks and eye blocks than for peripheral nerve blocks. Despite many limitations, including lack of clinical detail for each case, the dataset provides a useful overview of the extent, patterns and cost associated with the claims.
A comparison of the Airway Scope® and McCoy laryngoscope in patients with simulated restricted neck mobility
Authors: Komatsu R. , Kamata K. , Sessler D. I. , Ozaki M. 
Published: April 2010

SummaryWe compared the efficacy of the Airway Scope® and McCoy laryngoscope as intubation tools with the neck stabilised by a rigid cervical collar. After induction of anaesthesia and neck stabilisation, 100 patients were randomly assigned to tracheal intubation with an Airway Scope or McCoy laryngoscope. Overall intubation success rate, time required for intubation, number of intubation attempts required for successful intubation, and airway complications related to intubation were recorded. Overall intubation success rates were 100% with both devices and a similar number of intubation attempts were required. However, the mean (SD) time required for successful intubation was shorter with the Airway Scope (30 (7) s) than with the McCoy laryngoscope (40 (14) s; p < 0.0001). The incidences of intubation complications were similar, but oesophageal intubation (in six cases) occurred only with McCoy laryngoscope.
Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G‐CSF
Authors: Nikpour Maryam , Pellagatti Andrea , Liu Anquan , Karimi Mohsen , Malcovati Luca , Gogvadze Vladimir , Forsblom Ann‐Mari , Wainscoat James S. , Cazzola Mario , Zhivotovsky Boris , Grandien Alf , Boultwood Jacqueline , Hellström‐Lindberg Eva 
Published: April 2010

SummaryRefractory anaemia with ring sideroblasts (RARS) is characterized by anaemia, erythroid apoptosis, cytochrome c release and mitochondrial ferritin accumulation. Granulocyte‐colony‐stimulating factor (G‐CSF) inhibits the first three of these features in vitro and in vivo. To dissect the molecular mechanisms underlying the RARS phenotype and anti‐apoptotic effects of G‐CSF, erythroblasts generated from normal (NBM) and RARS marrow CD34+ cells were cultured ±G‐CSF and subjected to gene expression analysis (GEP). Several erythropoiesis‐associated genes that were deregulated in RARS CD34+ cells showed normal expression in erythroblasts, underscoring the importance of differentiation‐specific GEP. RARS erythroblasts showed a marked deregulation of several pathways including apoptosis, DNA damage repair, mitochondrial function and the JAK/Stat pathway. ABCB7, transporting iron from mitochondria to cytosol and associated with inherited ring sideroblast formation was severely suppressed and expression decreased with differentiation, while increasing in NBM cultures. The same pattern was observed for the mitochondrial integrity gene MFN2. Other downregulated key genes included STAT5B, HSPA5, FANCC and the negative apoptosis regulator MAP3K7. Methylation status of key downregulated genes was normal. The mitochondrial pathway including MFN2 was significantly modified by G‐CSF, and several heat shock protein genes were upregulated, as evidence of anti‐apoptotic protection of erythropoiesis. By contrast, G‐CSF had no effect on iron‐transport or erythropoiesis‐associated genes.
Decay‐accelerating factor 1 (Daf1) deficiency exacerbates xenobiotic‐induced autoimmunity
Authors: Toomey Christopher B. , Cauvi David M. , Song Wen‐Chao , Pollard Kenneth M. 
Published: April 2010

SummaryAbsence of decay‐accelerating factor 1 (Daf1) has been shown to enhance T‐cell responses and autoimmunity via increased expression of specific cytokines, most notably interferon (IFN)‐γ. To determine if Daf1 deficiency can exacerbate IFN‐γ‐dependent murine mercury‐induced autoimmunity (mHgIA), C57/BL6 Daf1+/+ and Daf1−/− mice were exposed to mercuric chloride (HgCl2) and examined for differences in cytokine expression, T‐cell activation and features of humoral autoimmunity. In the absence of Daf1, mHgIA was exacerbated, with increased serum immunoglobulin G (IgG), anti‐nuclear autoantibodies (ANAs) and anti‐chromatin autoantibodies. This aggravated response could not be explained by increased T‐cell activation but was associated with increased levels of IFN‐γ, interleukin (IL)‐2, IL‐4 and IL‐10 but not IL‐17 in Daf1‐deficient mice. Anti‐CD3/anti‐CD28 costimulation of Daf1−/− CD4+ T cells in vitro was also found to increase cytokine expression, but the profile was different from that of mHgIA, suggesting that the cytokine changes observed in Daf1 deficiency reflect a response to mercury. The role of Daf1 in influencing cytokine expression was further examined by stimulation of CD4+ T cells in the presence of anti‐CD3 and CD97, a molecular partner for Daf1. This resulted in increased IL‐10, decreased IL‐17 and IL‐21 and decreased IFN‐γ. These findings demonstrate that the absence of Daf1 exacerbates mHgIA, with changes in the profile of expressed cytokines. Interaction between Daf1 and its molecular partner CD97 was found to modify expression of mHgIA‐promoting cytokines, suggesting a possible approach for the suppression of overaggressive cytokine production in autoimmunity.