bluuebunny/crossref_metadata_2025_split huggingface dataset:
DNA interstrand cross‐link repair: understanding role of Fanconi anemia pathway and therapeutic implications
Authors: Shukla Pallavi , Solanki Avani , Ghosh Kanjaksha , Vundinti Babu Rao 
Published: July 2013

AbstractInterstrand cross‐links (ICLs) are extremely toxic DNA lesions that prevent DNA double‐helix separation due to the irreversible covalent linkage binding of some agents on DNA strands. Agents that induce these ICLs are thus widely used as chemotherapeutic drugs but may also lead to tumor growth. Fanconi anemia (FA) is a rare genetic disorder that leads to ICL sensitivity. This review provides update on current understanding of the role of FA proteins in repairing ICLs at various stages of cell cycle. We also discuss link between DNA cross‐link genotoxicity caused by aldehydes in FA pathway. Besides this, we summarize various ICL agents that act as drugs to treat different types of tumors and highlight strategies for modulating ICL sensitivity for therapeutic interventions that may be helpful in controlling cancer and life‐threatening disease, FA.
Monoclonal gammopathy of undetermined significance: a new proposal of workup
Authors: Mangiacavalli Silvia , Cocito Federica , Pochintesta Lara , Pascutto Cristiana , Ferretti Virginia , Varettoni Marzia , Zappasodi Patrizia , Pompa Alessandra , Landini Benedetta , Cazzola Mario , Corso Alessandro 
Published: July 2013

AbstractObjectiveDiagnostic criteria for monoclonal gammopathy of undetermined significance (MGUS) require quantification of bone marrow plasma cells (BMPCs) and skeletal survey to discriminate between MGUS and multiple myeloma (MM). By contrast, recent published guidelines suggest that these procedures could be avoided in the presence of serum monoclonal spike (M‐spike) of small amount (≤1.5 g/dL). Aim of this study is to better quantify the risk of missing a diagnosis of MM, not performing bone marrow aspirate and skeletal survey in patients with M‐spike ≤ 1.5 g/dL asymptomatic for bone pain.MethodsWe reviewed data of 2282 patients consecutively observed from January 1974 to December 2010 in our single hematology department. We considered eligible for this study 1271 patients with grade <2 NCI bone pain, confirmed to have an MGUS or an MM after extensive standardized diagnostic workup including bone marrow biopsy, skeletal bone survey and laboratory tests.ResultsThe risk of finding a BMPC infiltration ≥10% in patients with an M‐spike ≤ 1.5 g/dL was very low (7.3%), although significantly different according to IgH isotype (4.7% for IgG vs. 20.5% for IgA). The risk of finding bone lesions with M‐spike ≤ 1.5 g/dL was negligible (2.5%), regardless of IgH isotype.ConclusionIn asymptomatic patients with M‐spike of small amount (≤1.5 g/dL): (i) BMPC evaluation may be reasonably avoided in patients with IgG M‐spike, while should always be part of diagnostic workup in the presence of IgA M‐spike and (ii) skeletal survey, less predictive for MM, should not be routinely indicated irrespective of IgH isotype.
Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation‐dependent probe amplification
Authors: Tóth Beáta , Pistár Zsuzsanna , Csorba Gabriella , Balogh István , Kovács Tímea , Erdős Melinda , Maródi László 
Published: July 2013

AbstractDedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity characterized by recurrent infections with viruses, bacteria and fungi, very high serum IgE concentrations, and a progressive deterioration of T‐ and B‐cell‐mediated immunity. We studied the genetic and immunological features of two sisters (aged 11 and 6 yr). Mutational analysis of genomic DNA and cDNA from the patients and their parents, by a combination of PCR and bidirectional targeted sequencing, failed to localize the mutation site. However, a multiplex ligation‐dependent probe amplification (MLPA) assay revealed two novel large deletions, del1‐14 exons and del8‐18 exons, of DOCK8 in both patients. Immunoblot analysis demonstrated that DOCK8 protein was absent from the peripheral blood lymphocytes of both patients. These data suggest that compound heterozygous del1‐14 exons and del8‐18 exons mutations result in a loss of function of DOCK8 protein and a typical DOCK8 deficiency phenotype.
Data envelopment analysis with discrete‐valued inputs and outputs
Authors: Amirteimoori Alireza , Kordrostami Sohrab 
Published: July 2013

AbstractThe conventional data envelopment analysis (DEA) measures the relative efficiencies of a set of decision making units, which has real‐valued inputs and outputs. In many real occasions, there are cases in which some inputs and/or outputs must only take some particularised real or integer values. These values are referred to as discrete data. The need to deal with discrete‐valued data in DEA naturally occurs when we use real‐valued or integer‐valued DEA, but the reduced inputs and outputs of an inefficient decision making unit are restricted to some particular real or integer values. In this case, axioms such as unbounded ray, convexity and free disposability as discussed in the conventional DEA are violated. In this paper, an alternative extension of DEA in the case of discrete‐valued data has been faced. An axiomatic foundation is proposed to define the new production possibility set. In order to exemplify the method, a case of 25 Iranian gas companies' activities are illustrated.
Elevated methane emissions from a paddy field in southeast China occur after applying anaerobic digestion slurry
Authors: Huang Hong‐Ying , Cao Jin‐Liu , Wu Hong‐Sheng , Ye Xiao‐Mei , Ma Yan , Yu Jian‐Guang , Shen Qi‐Rong , Chang Zhi‐Zhou 
Published: July 2013

AbstractOne hundred million tons of farm stalk waste and livestock and poultry excrement are used every year in China for the production of clean energy (biogas) by anaerobic digestion. Consequently, a large amount of fermented liquid is produced, and if disposed of improperly, it will result in secondary pollution. Agricultural application of this anaerobic slurry as a liquid fertilizer would reduce possible eutrophication of water sources from random slurry discharge and supply a superior organic fertilizer for farming. This study investigated the effect of applying anaerobic digestion slurry as a liquid fertilizer on the methane emitted from a paddy field. A two‐year (2008–2009) field experiment replacing chemical fertilizer with liquid fertilizer from anaerobically digested pig manure slurry was conducted in a paddy field in Yixing, Jiangsu, China. A static closed chamber method was used to measure methane fluxes over the period from June 2008 to October 2009. All fertilizer treatments increased methane emissions relative to untreated controls, with increases in methane ranging from 40–70% in 2008 to 48–84% in 2009. Paddy fields treated with anaerobically digested pig manure slurry had greater methane emissions (8–84% in 2008 and 3–26% in 2009) than those treated with chemical fertilizer. This suggests that the anaerobic digestion slurry would increase methane emission and so is unsuitable as a liquid fertilizer in paddy fields without development of cultivation practices to limit these emissions.
Clinical response of edentulous people treated with mini dental implants in nine dental practices
Authors: Mundt Torsten , Schwahn Christian , Stark Thomas , Biffar Reiner 
Published: July 2013

ObjectivesTo analyse implant survival, prosthetic aftercare and quality of life (QoL) after stabilisation of complete dentures with mini‐implants.BackgroundMany edentulous patients refuse implant therapy due to the expenses and fear of surgery. Studies on minimally invasive and low‐cost mini‐implants remain rare.Materials and methodsA total of 133 participating patients from nine private practices were evaluated via patient records, questionnaires and clinical examinations. Complications, maintenance, QoL questions and the German short version of the oral health impact profile (OHIP‐G14) were analysed.ResultsAfter 7 to 61 months, 15 of 336 maxillary implants and 11 of 402 mandibular implants had to be removed. In addition, four mandibular implants experienced fracture. The difference between the 4‐year survival rates of 94.3% for the maxilla and 95.7% for the mandible was not statistically significant (p = 0.581). All original 144 overdentures remained functional. The prosthetic interventions were typically limited to repairs of acrylic base fractures (about one in five patients), changes of plastic O‐rings and relining procedures. The participants showed OHIP‐G14 scores (median = 2) that were comparable with those of patients with overdentures retained by conventional implants.ConclusionsMini‐implant survival was similar to that of regular‐diameter implants. Although some prosthetic aftercare was necessary, none of the overdentures had to be replaced. Prospective studies comparing conventional and mini‐implants are warranted.
Ineffective Breathing Pattern: Defining Characteristics in Children With Acute Respiratory Infection
Authors: Pascoal Livia Maia , Lopes Marcos Venícios de Oliveira , da Silva Viviane Martins , Beltrão Beatriz Amorim , Chaves Daniel Bruno Resende , de Santiago Juliana Maria Vieira , Herdman T. Heather 
Published: July 2013

PurposeTo determine the accuracy ofNANDA‐Idefining characteristics for the nursing diagnosis, ineffective breathing pattern, in children with acute respiratory infection.MethodsThis was a prospective cohort study in 136 children. Measures of accuracy were calculated for the defining characteristics.FindingsUse of accessory muscles to breathe presented the best measure of accuracy. Alterations in depth of breathing presented a high value of sensitivity. Altered chest excursion and orthopnea presented high values of specificity.ConclusionsUse of accessory muscles to breathe showed the best predictive capacity for ineffective breathing pattern.Implications for Nursing PracticeMeasures of accuracy can contribute to an accurate diagnostic inference process, improving patient assessment and facilitating rapid, accurate diagnosis.ObjetivoDeterminar a acurácia das características definidoras para o diagnóstico de enfermagem Padrão respiratório ineficaz em crianças com infecção respiratória aguda.MétodosEste foi um estudo de coorte prospectiva aberta com um grupo de 136 crianças. Medidas de acurácia foram calculadas para as características definidoras.ResultadosUso de musculatura acessória para respirar apresentou a melhor medida de acurácia. Alteração na profundidade respiratória apresentou elevado valor de sensibilidade. Excursão torácica alterada e Ortopneia apresentaram altos valores de especificidade.ConclusãoUso de musculatura acessória para respirar apresentou melhor capacidade preditiva para Padrão respiratório ineficaz.Implicações Para A Prática De EnfermagemMedidas de acurácia podem contribuir para um processo de inferência diagnostica acurado. Educadores podem usar o conhecimento de características definidoras críticas para ensinar aos alunos técnicas de avaliação adequadas, e os enfermeiros na prática clínica podem estar mais atentos a essas características, a fim de facilitar o diagnóstico rápido e preciso. Pesquisa adicional deve procurar replicar esse trabalho em populações semelhantes e diferentes, e identificar as características do diagnóstico ao longo do tempo.
Adipose tissue insulin resistance in adolescents with and without type 2 diabetes
Authors: Kelsey M. M. , Forster J. E. , Van Pelt R. E. , Reusch J. E. B. , Nadeau K. J. 
Published: July 2013

SummaryWhat is already known about this subject
Type 2 diabetes is increasing in youth, but little is known about the underlying pathophysiology.
Elevated fasting free fatty acids and failure of insulin to suppress lipolysis are well described in adults.
Small studies suggest that obese youth with and without type 2 diabetes have impaired suppression of lipolysis, but there are little data on associated factors.
What this study adds
Assessment of insulin suppression of lipolysis in a larger cohort of adolescents using hyperinsulinaemic euglycaemic clamp technique at higher insulin doses than have been previously reported.
Novel finding that some obese youth with and without type 2 diabetes have impaired suppression of lipolysis even at very high doses of insulin.
Factors associated with impaired insulin suppression of lipolysis include high triglycerides, high alanine aminotransferase and high low‐density lipoprotein cholesterol.
BackgroundThe incidence of type 2 diabetes mellitus (T2D) is increasing in youth, yet little is known about the underlying pathophysiology. Decreased insulin suppression of lipolysis and elevated non‐esterified free fatty acid (NEFA) concentrations are known to be associated with insulin resistance and T2D in adults, but less is known about the relationship in adolescents.ObjectivesThis study aimed to assess adipose tissue insulin resistance (IR; insulin suppression of lipolysis) and its metabolic correlates in lean, obese and T2D adolescents.MethodsForty‐seven lean, obese and T2D youth underwent hyperinsulinaemic (80 mU*m−2*min−1) euglycaemic clamps. NEFAs were measured at baseline and during steady state. Insulin‐mediated suppression of lipolysis (%NEFA suppression from baseline) was calculated, and metabolic risk factors were assessed by %NEFA suppression tertile.ResultsThere was expected variability in %NEFA suppression within obese and T2D youth, but a subset had significantly reduced suppression of lipolysis. NEFA suppression tertile was significantly inversely associated with fasting triglycerides (P = 0.0001), log alanine aminotransferase (ALT; P = 0.02) and low‐density lipoprotein cholesterol (P = 0.0002).ConclusionsMarked adipose tissue IR occurs in some obese and T2D adolescents, which may result in release of triglycerides into the circulation and liver deposition of fatty acids, as evidenced by higher ALT in poor NEFA suppressors.
Hedging Rules for the Operation of Lake Okeechobee in Southern Florida
Authors: You Gene J.‐Y. 
Published: July 2013

AbstractLake Okeechobee is the major source of freshwater in Southern Florida. With the increasing possibility of water stress, determining how to manage water during drought periods is essential to the operation of the Lake. This study deals with operational problems related to the management of Lake Okeechobee and the challenges involved in the implementation of hedging policy. We examine the implications of applying a theoretical hedging rule approach, comprising inter‐ and intrayear models, for the management of Lake Okeechobee and explore several optional hedging policies. The results demonstrate that hedging rules could reduce profit loss particularly under serious water stress, and might be applied sooner to mitigate the risk of severe water shortages. We suggested that the management of Lake Okeechobee should consider both short‐ and long‐term hedging nested. It is also demonstrated that the practical applicability of rolling decision making with updated forecast. Based on the results of the model, the merits of explicit optional hedging rules are demonstrated.
Environmental determinants of population divergence in life‐history traits for an invasive species: climate, seasonality and natural enemies
Authors: Seiter S. , Kingsolver J. 
Published: July 2013

AbstractInvasive species cope with novel environments through both phenotypic plasticity and evolutionary change. However, the environmental factors that cause evolutionary divergence in invasive species are poorly understood. We developed predictions for how different life‐history traits, and plasticity in those traits, may respond to environmental gradients in seasonal temperatures, season length and natural enemies. We then tested these predictions in four geographic populations of the invasive cabbage white butterfly (Pieris rapae) fromNorthAmerica. We examined the influence of two rearing temperatures (20 and 26.7 °C) on pupal mass, pupal development time, immune function and fecundity. As predicted, development time was shorter and immune function was greater in populations adapted to longer season length. Also, phenotypic plasticity in development time was greater in regions with shorter growing seasons. Populations differed significantly in mean and plasticity of body mass and fecundity, but these differences were not associated with seasonal temperatures or season length. Our study shows that some life‐history traits, such as development time and immune function, can evolve rapidly in response to latitudinal variation in season length and natural enemies, whereas others traits did not. Our results also indicate that phenotypic plasticity in development time can also diverge rapidly in response to environmental conditions for some traits.
Evidence for adaptive phenotypic differentiation inBalticSea sticklebacks
Authors: DeFaveri J. , Merilä J. 
Published: July 2013

AbstractThe evidence for adaptive phenotypic differentiation in mobile marine species remains scarce, partly due to the difficulty of obtaining quantitative genetic data to demonstrate the genetic basis of the observed phenotypic differentiation. Using a combination of phenotypic and molecular genetic approaches, we elucidated the relative roles of natural selection and genetic drift in explaining lateral plate number differentiation in threespine sticklebacks (Gasterosteus aculeatus) across the entireBalticSea basin (approximately 392 000 km2). We found that phenotypic differentiation (PST = 0.213) in plate number exceeded that in neutral markers (FST = 0.008), suggesting an adaptive basis for the observed differentiation. Because a close correspondence was found between plate phenotype and genotype at a quantitative trait loci (QTL;STN381) tightly linked to the gene (Ectodysplasin) underlying plate variation, the evidence for adaptive differentiation was confirmed by comparison ofFSTat theQTL(FSTQ = 0.089) withFSTat neutral marker loci. Hence, the results provide a comprehensive demonstration of adaptive phenotypic differentiation in a high‐gene‐flow marine environment with direct, rather than inferred, verification for the genetic basis of this differentiation. In general, the results illustrate the utility ofPST–FST–FSTQcomparisons in uncovering footprints of natural selection and evolution and add to the growing evidence for adaptive genetic differentiation in high‐gene‐flow marine environments, including that of the relatively young Baltic Sea.
The role of Bh4 in parallel evolution of hull colour in domesticated and weedy rice
Authors: Vigueira C. C. , Li W. , Olsen K. M. 
Published: July 2013

AbstractThe two independent domestication events in the genus Oryza that led to African and Asian rice offer an extremely useful system for studying the genetic basis of parallel evolution. This system is also characterized by parallel de‐domestication events, with two genetically distinct weedy rice biotypes in the US derived from the Asian domesticate. One important trait that has been altered by rice domestication and de‐domestication is hull colour. The wild progenitors of the two cultivated rice species have predominantly black‐coloured hulls, as does one of the two U.S. weed biotypes; both cultivated species and one of the US weedy biotypes are characterized by straw‐coloured hulls. Using Black hull 4 (Bh4) as a hull colour candidate gene, we examined DNA sequence variation at this locus to study the parallel evolution of hull colour variation in the domesticated and weedy rice system. We find that independent Bh4‐coding mutations have arisen in African and Asian rice that are correlated with the straw hull phenotype, suggesting that the same gene is responsible for parallel trait evolution. For the U.S. weeds, Bh4 haplotype sequences support current hypotheses on the phylogenetic relationship between the two biotypes and domesticated Asian rice; straw hull weeds are most similar to indica crops, and black hull weeds are most similar to aus crops. Tests for selection indicate that Asian crops and straw hull weeds deviate from neutrality at this gene, suggesting possible selection on Bh4 during both rice domestication and de‐domestication.
Divergent sexual selection via male competition: ecology is key
Authors: Lackey A. C. R. , Boughman J. W. 
Published: July 2013

AbstractSexual selection and ecological differences are important drivers of speciation. Much research has focused on female choice, yet the role of male competition in ecological speciation has been understudied. Here, we test how mating habitats impact sexual selection and speciation through male competition. Using limnetic and benthic species of threespine stickleback fish, we find that different mating habitats select differently on male traits through male competition. In mixed habitat with both vegetated and open areas, selection favours two trait combinations of male body size and nuptial colour: large with little colour and small with lots of colour. This matches what we see in reproductively isolated stickleback species, suggesting male competition could promote trait divergence and reproductive isolation. In contrast, when only open habitat exists, selection favours one trait combination, large with lots of colour, which would hinder trait divergence and reproductive isolation. Other behavioural mechanisms in male competition that might promote divergence, such as avoiding aggression with heterospecifics, are insufficient to maintain separate species. This work highlights the importance of mating habitats in male competition for both sexual selection and speciation.
Investigation on the governance model and effect of medical schools merged with comprehensive universities in China
Authors: Bai Ge , Luo Li 
Published: July 2013

AbstractThis investigation analyzes the management of medical schools merged with comprehensive universities through internet search and research review to reveal management model and effect of the merger. The conclusion is safely reached that governance models are divided into two different patterns: centralized management and decentralized management. Eight universities, representing the two models, were selected and evaluated comprehensively. Among them, the universities that carried out decentralized management have greater development after the merger based on a quality comparison concerning freshmen, faculty, teaching, and research between the two patterns.
Erythropoietin in Friedreich ataxia
Authors: Mariotti Caterina , Nachbauer Wolfgang , Panzeri Marta , Poewe Werner , Taroni Franco , Boesch Sylvia 
Published: July 2013

AbstractIn Friedreich ataxia (FRDA), several candidate substances including erythropoietin (EPO) focus on increase in the amount of frataxin and aim to counteract the consequences of frataxin deficiency. Evidence for recombinant human erythropoietin (rHuEPO) in FRDA is based on in vitro studies using mouse neuronal cell lines, human fibroblasts, cardiomyocytes, and primary lymphocytes from FRDA patients or control subjects which showed a dose‐dependent increase of frataxin after incubation with different erythropoietins. The mechanism by which EPO induces frataxin increase remains to be elucidated, but may involve post‐transcriptional and/or post‐translational modifications of frataxin or alterations in frataxin half‐life and metabolism. In vivo data on rHuEPO's ability to increase frataxin in FRDA patients is contradictory as studies on the effect of EPO derivatives in FRDA differ in treatment regimen, sample size, and duration. Open‐label studies indicate for sustained frataxin increase, decrease of oxidative stress, and clinical improvement in FRDA patients after administration of rHuEPO. Two randomized controlled studies found acceptable safety and tolerability of EPO derivatives in FRDA. Secondary outcome measures, however, such as frataxin up‐regulation and clinical efficacy were not met. This review will focus on (i) pre‐clinical work on erythropoietins in FRDA and (ii) clinical studies in FRDA patients exposed to erythropoietins.