bluuebunny/crossref_metadata_2025 huggingface dataset:
Expected influence of linkage disequilibrium on genetic variance caused by dominance and epistasis on quantitative traits
Authors: Hill W.G. , Mäki‐Tanila A.
Published: March 2015

Linkage disequilibrium (LD) influences the genetic variation in a quantitative trait contributed by two or more loci, with positive LD increasing the variance. The magnitude of LD also affects the relative magnitude of dominance and epistatic variation. We quantify the extent of the non‐additive variance expected within populations, deriving analytical expressions for simple models and using numerical simulation in finite population more generally. As LD generates non‐independence among loci, a simple partition into additive, dominance and epistatic components is not possible, so we merely distinguish between additive and non‐additive components based on comparing covariances among close relatives, such as full sibs, half sibs and offspring–parent. As tight linkage is needed to yield substantial LD in outbred populations, we ignore recombination in the generation used to estimate components and it is analogous to a multi‐allelic model. The expected magnitude of the non‐additive variance is generally increased but not greatly so by the LD in outbred populations. Thus, as found in previous studies for unlinked loci, independent of the type and strength of gene interaction, the epistatic variance contributes little to the total.
How old are quantitative trait loci and how widely do they segregate?
Authors: Kemper K.E. , Hayes B.J. , Daetwyler H.D. , Goddard M.E.
Published: March 2015

The mutations that cause genetic variation in quantitative traits could be old and segregate across many breeds or they could be young and segregate only within one breed. This has implications for our understanding of the evolution of quantitative traits and for genomic prediction to improve livestock. We investigated the age of quantitative trait loci (QTL) for milk production traits identified as segregating in Holstein dairy cattle. We use a multitrait method and found that six of 11 QTL also segregate in Jerseys. Variants identified as Holstein‐only QTL were fixed or rare [minor allele frequency (MAF) < 0.05] in Jersey. The age of the QTL mutations appears to vary from perhaps 2000 to 50 000 generations old. The older QTL tend to have high derived allele frequencies and often segregate across both breeds. Holstein‐only QTL were often embedded within longer haplotypes, supporting the conclusion that they are typically younger mutations that have occurred more recently than QTL that segregate in both breeds. A reference population for genomic prediction using both Holsteins and Jersey cattle incorrectly predicted a QTL in Jersey cattle when the QTL only segregates in Holsteins. Overcoming this error should help to make genomic prediction more accurate in smaller breeds.
Quantitative genetics of disease traits
Authors: Wray N.R. , Visscher P.M.
Published: March 2015

John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James’ most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case–control data and review recent applications in human genetics.
Managing the rate of increase in average co‐ancestry in a rolling front tree breeding strategy
Authors: Kerr R.J. , McRae T.A. , Dutkowski G.W. , Tier B.
Published: March 2015

In breeding forest trees, as for livestock, the goal is to capture as much genetic gain as possible for the breeding objective, while limiting long‐ and short‐term inbreeding. The Southern Tree Breeding Association (STBA) is responsible for breeding Australia's two main commercial forest tree species and has adopted algorithms and methods commonly used in animal breeding to achieve this balance. Discrete generation breeding is the norm for most tree breeding programmes. However, the STBA uses an overlapping generation strategy, with a new stream of breeding initiated each year. A feature of the species bred by the STBA (Pinus radiata and Eucalyptus globulus) is the long interval (up to 7 years) between when an individual is mated and when its progeny is first assessed in field trials and performance data included in the national performance database. Mate selection methods must therefore recognize the large pool of unmeasured progeny generated over recent years of crossing. In addition, the substantial delay between when an individual is selected in a field trial and when it is clonally copied into a mating facility (breeding arboretum) means that selection and mating must occur as a two‐step process. In this article, we describe modifications to preselection and mate selection algorithms that allow unmeasured progeny (juveniles) to be recognized. We also demonstrate that the addition of hypothetical new progeny to the juvenile pool is important for computing the increase in average co‐ancestry in the population. Methods outlined in this article may have relevance to animal breeding programmes where between mating and progeny measurement, new rounds of mating are initiated.
Relationship of Leptin with adiposity and inflammation and Resistin with disease severity in Psoriatic patients undergoing anti‐TNF‐alpha therapy
Authors: Pina T. , Genre F. , Lopez‐Mejias R. , Armesto S. , Ubilla B. , Mijares V. , Dierssen‐Sotos T. , Gonzalez‐Lopez M.A. , Gonzalez‐Vela M.C. , Blanco R. , Hernández J.L. , Llorca J. , Gonzalez‐Gay M.A.
Published: March 2015

Background

Altered secretion patterns of proinflammatory adipokines may influence the increased risk of cardiovascular mortality observed in patients with chronic inflammatory diseases.

Objective

To determine whether two adipokines, leptin and resistin, correlate with metabolic syndrome features and disease severity in psoriatic patients who underwent anti‐TNF‐α therapy.

Methods

Prospective study of consecutive non‐diabetic patients with moderate‐to‐severe psoriasis who completed 6 months of therapy with anti‐TNF‐α‐ adalimumab. Patients with kidney disease, hypertension or body mass index ≥35 Kg/m2 were excluded. Metabolic and clinical evaluation was performed at the onset of anti‐TNF‐α treatment and at month 6.

Results

Twenty‐nine patients were assessed. A correlation between adiposity and leptin was observed (waist circumference and leptin levels after 6 months of therapy: r = 0.43; P = 0.030). Leptin concentration also correlated with blood pressure before adalimumab onset (systolic: r = 0.48; P = 0.013 and diastolic blood pressure: r = 0.50; P = 0.010 ). A marginally significant negative correlation between insulin sensitivity (QUICKI) and leptin levels was also observed. CRP levels correlated with leptin prior to the onset of adalimumab (r = 0.45; P = 0.020) and with resistin both before (r = 0.45; P = 0.020) and after 6 months of therapy (r = 0.55; P = 0.004). A positive association between parameters of disease activity such as BSA (r = 0.60; P = 0.001) and PASI (r = 0.63; P = 0.001) prior to the onset of adalimumab therapy and resistin concentrations was also disclosed. No significant changes in leptin and resistin concentrations following the 6‐month treatment with adalimumab were seen.

Conclusion

In patients with moderate‐to‐severe psoriasis leptin correlates with metabolic syndrome features and inflammation whereas resistin correlate with inflammation and disease severity.
Native Amazonians’ Strategic Urbanization: Shaping Territorial Possibilities through Cities
Authors: McSweeney Kendra , Jokisch Brad
Published: March 2015

Este artículo se basa en fuentes etnográficas dispares con la finalidad de examinar la relación entre la urbanización de la población de la Amazonía y su lucha por los derechos al territorio. En el argumento que ésta dinámica contraria a la intuición, merece una mayor atención, especialmente porque recientes políticas sobre la urbanización indígena ocultan dicha posibilidad. Específicamente muestro cómo en la Amazonía: (1) las cadenas migratorias que conectan remotas ciudades con las tierras indígenas, a menudo han sido forjadas por los líderes indígenas que viajan a los lugares donde reside el poder del estado, con el fin de demandar sus derechos sobre el territorio; (2) la vida en las ciudades puede servir para politizar a los citadinos indígenas, con consecuencias a largo plazo en sus luchas por el territorio; (3) el movimiento de la población indígena entre las ciudades y sus territorios de origen puede mantener y difundir estos efectos políticos a través del espacio y del tiempo. Presto atención a estas dinámicas con el objetivo de cuestionar la posible justificación de los textos políticos de la desposesión de las tierras indígenas enmarcando la urbanización indígena como genérica, inevitable y, en última instancia, desempoderando las posiciones indígenas sobre el territorio. [Amazonía, migración, pueblos indígenas, territorialización, territorio, urbanización]
Pueblos indígenas y usos contra‐hegemónicos de la ley en la disputa por la justicia: La Policía Comunitaria de Guerrero
Authors: Sierra María Teresa
Published: March 2015

En México y América Latina, en general, aumentan los casos en que los pueblos indígenas hacen un uso contra‐hegemónico de la ley para disputar la justicia y defender sus derechos. Esto sucede con la Policía Comunitaria de Guerrero, institución emblemática de los pueblos indígenas de México que desde 1998 garantiza de manera autónoma la seguridad y la justicia en un amplio territorio del sur occidente del país. A partir de un juicio público inédito en el que por primera vez actores no estatales juzgan a autoridades judiciales del Estado analizo el sentido en que consejeros y autoridades de la Comunitaria recurren a la ley oficial para exigir el respeto a su propio derecho y a sus instituciones. Desnudan de esta manera el carácter ambiguo y fragmentario de la ley, la impunidad de la justicia oficial así como la fragilidad del poder soberano que termina negociando con las autoridades indígenas. Esto sucede en contextos de aumento drástico de la inseguridad y la violencia en la región y en el país, al mismo tiempo que actores estatales, del crimen organizado y de compañías mineras transnacionales, presionan por acceder a los territorios indígenas.
“Fraudulent” Identities: The Politics of Defining Quilombo Descendants in Brazil
Authors: Farfán‐Santos Elizabeth
Published: March 2015

This article analyzes the role of historians and anthropologists in the conceptualization of “quilombo,” past and present, in Brazil. The validity of the new political identity, remanescente de quilombo (quilombo descendant), has been contested by the popular media as a “fraudulent” identity used by black communities to obtain land rights. While the term quilombo was used by the Portuguese Crown to refer to three or more fugitive slaves in hiding, quilombo descendants have been defined beyond the limits of simply the ancestors of fugitive slaves. I argue that when it comes to quilombo descendants obtaining actual rights they are often dismissed as frauds until proven authentic. Their authenticity depends not only on their ability to perform and describe the ancestral history of their community, but more importantly, in their ability to tell a specific history of their past as it has been written and incorporated into the Brazilian national imaginary.
The Legislative Lacuna on Assisted Reproduction: Reimagining the Modern Mexican State
Authors: Braff Lara
Published: March 2015

Basado en el trabajo de campo en las clínicas de fertilidad de la Ciudad de México, este artículo examina cómo los pacientes y médicos que forman parte de tratamientos de fertilidad re‐imaginan su relación con el Estado. Ambos ven las tecnologías de reproducción asistida (TRAs) como algo problemático en México debido a la ausencia de una ley que regule sus usos. La pretensión de estos actores es que los oficiales del Estado aprueben una ley que proteja a los pacientes y los embriones y que legitime a los médicos de fertilidad en Mexico. La expectativa es que las clínicas de fertilidad locales se emparejen con aquellas del hemisferio norte. Al suplicar un mayor involucramiento del Estado con las TRAs, mis informantes se encuentran re‐conceptualizando el Estado en términos completamente modernos: responsivo a sus preocupaciones reproductivas y ya no exclusivamente dedicado a estrategias de control de la población propias de finales del siglo XX.
Tourism and the Transformation of Daily Life Along the Riviera Maya of Quintana Roo, Mexico
Authors: Pi‐Sunyer Oriol , Thomas R. Brooke
Published: March 2015

En el espacio de menos de dos décadas, los habitantes de Quintana Roo han tenido que enfrentar cambios radicales ocasionados por el turismo de masas. El turismo se ha convertido en la industria dominante y esto ha puesto en marcha un ciclo de desarrollo turístico y de migración masiva de otras partes de México y del exterior. Una región que no hace mucho tiempo se consideraba el territorio más marginal de la nación, hoy atrae millones de turistas de todo el mundo, la mayoría de los Estados Unidos y Europa. En un contexto de cambio acelerado y control empresarial, la vida de muchas personas, incluso la población maya, es altamente imprevisible y estresante. La expansión del turismo se ha desplazado recientemente a Tulum, una ciudad que está emergiendo como una localidad de pequeños, pero bien cómodos, hoteles.
The effect of CO2 laser treatment on skin tissue
Authors: Baleg Sana Mohammed Anayb , Bidin Noriah , Suan Lau Pik , Ahmad Muhammad Fakarruddin Sidi , Krishnan Ganesan , Johari Abd Rahman , Hamid Asma
Published: March 2015

Background/Objective

The aim of this study was to evaluate the effects of multiple pulses on the depth of injury caused by CO2 laser in an in vivo rat model.

Methods

A 10 600‐nm CO2 laser was applied to rat skin, with one side of the rat dorsal skin being exposed, leaving the other side as a control.

Results

All of the various laser pulses tested led to gradual loss of epidermal thickness as well as a dramatic increase in thermal damage depth. Collagen coagulation was most effective with ten pulses of CO2 laser, while the strength of irradiated skin tissue increased as the influence of the laser increased.

Conclusion

Fundamental laser–skin interaction effects were studied using a CO2 laser. The photodamaged areas obtained from laser interaction were recorded via couple charge device video camera and analyzed via ImageJ software. Photodamage induced by CO2 laser is due to photothermal effects, which involve burning and vaporizing mechanisms to ablate the epidermis layer. The burning area literally expands and penetrates deep into the dermis layer, subsequently causing collagen coagulation. This fundamental study shows in detail the effect of CO2 laser interaction with skin. The CO2 attributed severe burning, producing deep coagulation, and induced strength to treated skin.
Seasonality and the Effect of Advertising on Price
Authors: Genesove David , Simhon Avi
Published: March 2015

Does advertising make markets more or less competitive? This paper lays out an econometric strategy for estimating the effect of advertising on prices that exploits seasonal demand and imperfect targeting of consumers. We find mostly negligible effects of advertising on prices at monthly frequency: among the 35 (of 131) product categories with sufficient advertising seasonality to justify second‐stage estimation, only nine have a significant effect, and those are typically small. This finding is essentially the result of the much greater seasonality in advertising than price.
Net Neutrality with Competing Internet Platforms
Authors: Bourreau Marc , Kourandi Frago , Valletti Tommaso
Published: March 2015

We propose a two‐sided model with two competing Internet platforms, and a continuum of Content Providers (CP's). We study the effect of a net neutrality regulation on capacity investments in the market for Internet access, and on innovation in the market for content. Under the alternative discriminatory regime, platforms charge a priority fee to those CP's which are willing to deliver their content on a fast lane. We find that under discrimination, investments in broadband capacity and content innovation are both higher than under net neutrality. Total welfare increases, though the discriminatory regime is not always beneficial to the platforms as it can intensify competition for subscribers. As platforms have a unilateral incentive to switch to the discriminatory regime, a prisoner's dilemma can arise. We also consider the possibility of sabotage, and show that it can only emerge, with adverse welfare effects, under discrimination.
Cross Sectoral Variation in the Volatility of Plant Level Idiosyncratic Shocks
Authors: Castro Rui , Clementi Gian Luca , Lee Yoonsoo
Published: March 2015

We estimate the volatility of plant–level idiosyncratic shocks in U.S. manufacturing. We measure the variation in Revenue Total Factor Productivity not explained by either industry or economy–wide factors, or by establishments’ characteristics. We find that idiosyncratic shocks are much larger than aggregate shocks, accounting for about 80% of the overall uncertainty faced by plants. Plants in the most volatile sector are subject to about six times as much idiosyncratic uncertainty as plants in the least volatile. We provide evidence suggesting that idiosyncratic risk is higher in industries where the extent of creative destruction is likely to be greater.
Anti‐Competitive Interconnection: the effects of the elasticity of consumers' expectations and the shape of the network effects function
Authors: Alexandrov Alexei
Published: March 2015

I find that interconnection might cause the market to be less competitive, and might lead to an increase in the price firms charge for their product. Absent interconnection, firms compete for a consumer for two reasons. The first reason is to obtain revenue from selling the product to a consumer (as in the case without network effects). The second reason is that by expanding the network by one more consumer, the product becomes more attractive to all other consumers. Interconnection eliminates the second reason—when firms interconnect, they are no longer concerned with consumers' following the crowd. I show that consumers and society might be worse off from interconnection. I focus on two factors that make the (post‐interconnection) price increase larger: consumer expectations that are highly sensitive to prices and consumers putting a high value on small increases in network size at the equilibrium market shares. Both of these factors make firms highly competitive, but only if the firms' products' networks are not interconnected.
Price Controls and Market Structure: Evidence from Gasoline Retail Markets
Authors: Carranza Juan Esteban , Clark Robert , Houde Jean‐François
Published: March 2015

In this paper we study the effect of price floor regulations on the organization and performance of markets. The standard interpretation of the effects of these policies is concerned with short‐run market distortions associated with excess supply. Since price controls prevent markets from clearing, they lead to higher prices. While this analysis may be correct in the short‐run, it does not consider the dynamic equilibrium consequences of price controls. We demonstrate that price floor regulations can have important long‐run effects on the the structure of markets by crowding them and creating endogenous barriers to entry for low‐cost retailers. Moreover, we show that these factors can indirectly lower productivity and possibly even prices. We test this in the context of an actual regulation imposed in the retail gasoline market in the Canadian province of Québec and show that the policy led to more competition between smaller/less efficient stations. This resulted in lowered sales, and, despite the reduction in efficiency, did not increase prices.
H2O2 activates matrix metalloproteinases through the nuclear factor kappa B pathway and Ca2+ signals in human periodontal fibroblasts
Authors: Osorio C. , Cavalla F. , Paula‐Lima A. , Díaz‐Araya G. , Vernal R. , Ahumada P. , Gamonal J. , Hernández M.
Published: March 2015

Background

The mechanisms involved in reactive oxygen species and matrix metalloproteinase (MMP)‐mediated periodontal tissue breakdown are unknown.

Objective

To determine the effect of H2O2 in MMP‐2 and MMP‐9 activity, and the involvement of nuclear factor kappa B (NFκB) and Ca2+‐mediated signals in human periodontal ligament fibroblasts.

Material and Methods

Primary cultures were characterized for their phenotype and exposed for 24 h to sublethal doses (2.5–10 μm) of H2O2 or control media. NFκB involvement was evaluated through immunofluorescence of p65 subunit, using the NFκB blocking peptide SN50 and catalase. Ca2+ signals were analyzed by loading the cells with Fluo4‐AM and recording the fluorescence changes in a confocal microscope before and after the addition of H2O2. 1,2‐bis(o‐aminophenoxy) ethane‐N,N,N′,N′‐tetraacetic acid‐acetoxymethyl was used to chelate intracellular Ca2+. The activity and levels of MMP‐2 and MMP‐9 were analyzed by gelatin zymogram and densitometric scanning, and enzyme‐linked immunosorbent assay, respectively. Statistical analysis was performed with stata V11.1 software using the ANOVA test.

Results

H2O2 at concentrations of 2.5–5 μm induced Ca2+ signaling and NFκB subunit p65 nuclear translocation, whereas catalase, SN50 and BAPTA‐AM prevented p65 nuclear translocation. H2O2 at 2.5–5 μm significantly increased MMP‐9 and MMP‐2 activity, while SN50 resulted in lower MMP‐2 and MMP‐9 activity rates compared with controls.

Conclusion

Sublethal H2O2 induces Ca2+‐dependent NFκB signaling with an increase in MMP gelatinolytic activity in human periodontal ligament.
Direct effect of streptozotocin on periodontal ligament cells through myeloid cell leukemia‐1
Authors: Shin J.‐A. , Hong I.‐S. , Oh S. , Cho S.‐D. , Lee K.‐E.
Published: March 2015

Objective

We hypothesized that streptozotocin (STZ) has a direct impact on periodontal ligament cell (PDL) damage as a potential direct inducer of periodontitis.

Background

Since diabetes was accepted as one of the risk factors for the development of periodontal disease, various scientific studies have been undertaken in the STZ‐induced periodontal disease models. STZ induces β‐cell damage and subsequent diabetes development in vivo. Until now, assessment of the impacts of STZ‐induced experimental diabetes on periodontitis has generally been conducted on the fundamental assumption that STZ have no direct action on PDL and its function. However, several recent studies suggest that STZ also directly affect many different biological functions in various tissues or organs.

Material and Methods

To assess the apoptotic effects of STZ on PDLs, they were treated with or without STZ at different concentrations. Qualitative estimation of apoptotic cell death was obtained by live/dead assay. The expression levels of apoptosis‐related proteins were evaluated by western blot analysis.

Results

STZ inhibits growth and induces apoptosis in PDLs in a dose‐dependent manner. Furthermore, STZ dramatically induced Mcl‐1 downregulation in a proteasome‐dependent manner and thereby induced apoptosis of PDLs through the Bak/Bax apoptotic signaling pathway.

Conclusion

Our results support the hypothesis that suppression of the cellular Mcl‐1 levels by STZ may be at least partly attributed to the development of periodontitis in STZ‐induced diabetic animal models.
T‐lymphocyte phenotype and function triggered by Aggregatibacter actinomycetemcomitans is serotype‐dependent
Authors: Díaz‐Zúñiga J. , Melgar‐Rodríguez S. , Alvarez C. , Monasterio G. , Benítez A. , Ciuchi P. , Díaz C. , Mardones J. , Escobar A. , Sanz M. , Vernal R.
Published: March 2015

Background and Objective

Based on lipopolysaccharide (LPS) antigenicity, different Aggregatibacter actinomycetemcomitans serotypes have been described. Serotype b strains have demonstrated a stronger capacity to trigger cytokine production on dendritic cells (DCs). As DCs regulate the development of T‐lymphocyte lineages, the objective of this investigation was to study the response of T lymphocytes after being stimulated with autologous DCs primed with different bacterial strains belonging to the most prevalent serotypes of A. actinomycetemcomitans in humans: a–c.

Material and Methods

Human DCs were primed with increasing multiplicity of infection (10−1–102) or the purified LPS (10–50 ng/mL) of A. actinomycetemcomitans serotypes a–c and then used to stimulate autologous naïve CD4+ T lymphocytes. The T‐helper (Th) type 1, Th2, Th17 and T‐regulatory transcription factors T‐bet, GATA‐3, RORC2 and Foxp3, which are the master‐switch genes implied in their specific differentiation, as well as T‐cell phenotype‐specific cytokine patterns were quantified by real‐time reverse transcription–polymerase chain reaction and enzyme‐linked immunosorbent assay. In addition, the intracellular expression of T‐bet/interferon‐γ, GATA‐3/interleukin‐4, RORC2/interleukin‐17A and Foxp3/transforming growth factor‐β1 was analysed by double staining and flow cytometry.

Results

All the A. actinomycetemcomitans serotypes led to T‐lymphocyte activation; however, when T lymphocytes were stimulated with DCs primed with the A. actinomycetemcomitans serotype b strain or their purified LPS, higher levels of Th1‐ and Th17‐associated transcription factors and cytokines were detected compared with similar experiments with the other serotypes.

Conclusion

These results demonstrate that serotype b of A. actinomycetemcomitans has a higher capacity of trigger Th1 and Th17 phenotype and function and it was demonstrated that their LPS is a more potent immunogen compared with the other serotypes.
Bacteriophage predation promotes serovar diversification in Listeria monocytogenes
Authors: Eugster Marcel R. , Morax Laurent S. , Hüls Vanessa J. , Huwiler Simona G. , Leclercq Alexandre , Lecuit Marc , Loessner Martin J.
Published: March 2015

Listeria monocytogenes is a bacterial pathogen classified into distinct serovars (SVs) based on somatic and flagellar antigens. To correlate phenotype with genetic variation, we analyzed the wall teichoic acid (WTA) glycosylation genes of SV 1/2, 3 and 7 strains, which differ in decoration of the ribitol‐phosphate backbone with N‐acetylglucosamine (GlcNAc) and/or rhamnose. Inactivation of lmo1080 or the dTDP‐l‐rhamnose biosynthesis genes rmlACBD (lmo1081–1084) resulted in loss of rhamnose, whereas disruption of lmo1079 led to GlcNAc deficiency. We found that all SV 3 and 7 strains actually originate from a SV 1/2 background, as a result of small mutations in WTA rhamnosylation and/or GlcNAcylation genes. Genetic complementation of different SV 3 and 7 isolates using intact alleles fully restored a characteristic SV 1/2 WTA carbohydrate pattern, including antisera reactions and phage adsorption. Intriguingly, phage‐resistant L. monocytogenes EGDe (SV 1/2a) isolates featured the same glycosylation gene mutations and were serotyped as SV 3 or 7 respectively. Again, genetic complementation restored both carbohydrate antigens and phage susceptibility. Taken together, our data demonstrate that L. monocytogenes SV 3 and 7 originate from point mutations in glycosylation genes, and we show that phage predation represents a major driving force for serovar diversification and evolution of L. monocytogenes.
Multiple calcifying pseudoneoplasms of the neuraxis
Authors: Hubbard Molly , Qaiser Rabia , Clark H Brent , Tummala Ramachandra
Published: March 2015

Calcified pseudoneoplasms of the neuraxis (CAPNON) are a rare diagnostic entity. They have been reported intra‐cranially as well as in the spine, and are most commonly found at the skull base. This is a case report of a 38‐year‐old woman who presented with bilateral CAPNON, diagnosed 8 years apart. While there are approximately 46 reported in the current literature of cerebral and spinal fibro‐osseous lesions, this is the first report of separate lesions.
Factors associated with nutritional status in children aged 5–24 months in the Republic of Cameroon
Authors: Nagahori Chikako , Tchuani Jean Paul , Yamauchi Taro
Published: March 2015

This study was conducted to clarify nutritional status and associated factors in 5–24 month old children in the district of Batouri, Republic of Cameroon. Mothers were interviewed using a semistructured questionnaire, and the child's weight, length, head circumference, and mid‐upper arm circumference was collected. The data were compared with child growth standards proposed by the World Health Organization using Z‐scores; χ2‐test, Fisher's exact test, and Wilcoxon rank sum test were used to determine variables associated with malnutrition. A total of 100 mother–child pairs participated in this study; valid data from 100 pairs were subjected to analysis. The percentages of children with malnutrition indicators were wasting (6%), stunting (31%), underweight (14%), and low mid‐upper arm circumference (16%). Five factors were found to be statistically significant in their association with the children's malnutrition: mother's age, child's age, mother's educational level, mothers who had family planning information, and the source of tap water. A high percentage of stunting was positively associated with a high percentage of chronic malnutrition. We speculate that insufficient nutrition was more likely to begin after weaning.
The myth of the miracle baby: how neonatal nurses interpret media accounts of babies of extreme prematurity
Authors: Green Janet , Darbyshire Philip , Adams Anne , Jackson Debra
Published: March 2015

Improved life sustaining technology in the neonatal intensive care unit (NICU) has resulted in an increased probability of survival in extremely premature babies. Miracle baby stories in the popular press are a regular occurrence and these reports are often the first source from which the general public learn about extremely premature babies. The research from which this paper is drawn sought to explore the care‐giving and ethical dilemmas of neonatal nurses when caring for extremely premature babies 24 weeks gestation and less. This current paper aims to outline the views of neonatal nurses on miracle baby stories in the media. Data were collected via a questionnaire to 760 Australian neonatal nurses with 414 returned, representing a response rate of 54.4%. Narrative was collected from semi‐structured interviews with 24 experienced neonatal nurses in NSW, Australia. A qualitative approach utilising thematic analysis was utilised to analyse the data. The theme the myth of the miracle baby is seen as generating myths and unrealistic expectations on the part of vulnerable families and the public. Neonatal nurses, as the primary caregivers for tiny babies and their families, viewed popular media publications with suspicion, believing published reports to be incomplete, inaccurate and biased towards the positive.
Role of stress‐related hormones in plant defence during early infection of the cyst nematode Heterodera schachtii in Arabidopsis
Authors: Kammerhofer Nina , Radakovic Zoran , Regis Jully M. A. , Dobrev Petre , Vankova Radomira , Grundler Florian M. W. , Siddique Shahid , Hofmann Julia , Wieczorek Krzysztof
Published: March 2015

Heterodera schachtii, a plant‐parasitic cyst nematode, invades host roots and induces a specific syncytial feeding structure, from which it withdraws all required nutrients, causing severe yield losses. The system H. schachtii–Arabidopsis is an excellent research model for investigating plant defence mechanisms. Such responses are suppressed in well‐established syncytia, whereas they are induced during early parasitism. However, the mechanisms by which the defence responses are modulated and the role of phytohormones are largely unknown.

The aim of this study was to elucidate the role of hormone‐based defence responses at the onset of nematode infection. First, concentrations of main phytohormones were quantified and the expression of several hormone‐related genes was analysed using quantitative real‐time (qRT)‐PCR or GeneChip. Further, the effects of individual hormones were evaluated via nematode attraction and infection assays using plants with altered endogenous hormone concentrations.

Our results suggest a pivotal and positive role for ethylene during nematode attraction, whereas jasmonic acid triggers early defence responses against H. schachtii. Salicylic acid seems to be a negative regulator during later syncytium and female development.

We conclude that nematodes are able to impose specific changes in hormone pools, thus modulating hormone‐based defence and signal transduction in strict dependence on their parasitism stage.
Implementation of intersectoral community approaches targeting childhood obesity: a systematic review
Authors: van der Kleij R. , Coster N. , Verbiest M. , van Assema P. , Paulussen T. , Reis R. , Crone M.
Published: March 2015

The implementation of intersectoral community approaches targeting childhood obesity (IACO) is considered challenging. To help overcome these challenges, an overview of the evidence to date is needed. We searched four databases to identify papers that reported on the determinants of successful implementation of IACOs, resulting in the inclusion of 25 studies. We appraised study quality with the Crowe Critical Appraisal Tool and the Quality Framework; reported implementation outcome indicators were reviewed via narrative synthesis. Quality of included studies varied. The most frequently reported indicators of implementation success were fidelity and coverage. Determinants related to the social‐political context and the organization were most often cited as influencing implementation, in particular, ‘collaboration between community partners’, ‘the availability of (human) resources’ and ‘time available for implementation’. The association between determinants and implementation variability was never explicated. We conclude that although some insights into the effective implementation of IACOs are present, more research is needed. Emphasis should be placed on elucidating the relationship between determinants and implementation success. Research should further focus on developing a ‘golden standard’ for evaluating and reporting on implementation research. These actions will improve the comparison of study outcomes and may constitute the cumulative development of knowledge about the conditions for designing evidence‐based implementation strategies.
Effect of orthodontic treatment with preadjusted edgewise appliances on the buccolingual inclination of mandibular canines: a CBCT study
Authors: Hamdan H. A. , Grünheid T. , Larson B. E.
Published: March 2015

Structured Abstract

Objectives

To assess the effects of treatment with preadjusted edgewise appliances on the buccolingual inclination of mandibular canines and the intercanine distance.

Setting and Sample Population

The Division of Orthodontics at the University of Minnesota. Thirty patients whose treatment included extraction of mandibular first premolars and 30 patients whose treatment did not include extractions.

Material and Methods

The buccolingual inclination of mandibular canines and their linear distance were measured on cone beam computed tomograms before and after treatment in both patient groups. Differences between extraction and non‐extraction groups and between pre‐ and post‐treatment measurements were tested for statistical significance, and the correlation between the buccolingual inclination and the intercanine distance was computed.

Results

Post‐treatment, the buccolingual inclination of mandibular canines was significantly greater in the non‐extraction group than in the extraction group. In both groups, the canines became more lingually inclined with treatment (non‐extraction group: −2.1°; extraction group: −4.1°). The intercanine distance increased significantly in the extraction group (+1.2 mm) but not in the non‐extraction group (−0.5 mm). While there was a significant positive correlation between the buccolingual inclination and the mandibular intercanine distance in both groups before treatment, after treatment this correlation was significant only in the non‐extraction group.

Conclusion

Orthodontic treatment with preadjusted edgewise appliances results in more lingually inclined mandibular canines together with an increased intercanine distance, especially in patients whose treatment involves the extraction of mandibular first premolars.
NF1 loss induces senescence during human melanocyte differentiation in an iPSC‐based model
Authors: Larribere Lionel , Wu Huizi , Novak Daniel , Galach Marta , Bernhardt Mathias , Orouji Elias , Weina Kasia , Knappe Nathalie , Sachpekidis Christos , Umansky Ludmila , Beckhove Philipp , Umansky Viktor , De Schepper Sofie , Kaufmann Dieter , Ballotti Robert , Bertolotto Corine , Utikal Jochen
Published: March 2015

Neurofibromatosis type 1 (NF1) is a frequent genetic disease leading to the development of Schwann cell‐derived neurofibromas or melanocytic lesions called café‐au‐lait macules (CALMs). The molecular mechanisms involved in CALMs formation remain largely unknown. In this report, we show for the first time pathophysiological mechanisms of abnormal melanocyte differentiation in a human NF1+/−‐induced pluripotent stem cell (iPSC)‐based model. We demonstrate that NF1 patient‐derived fibroblasts can be successfully reprogrammed in NF1+/− iPSCs with active RAS signaling and that NF1 loss induces senescence during melanocyte differentiation as well as in patient's‐derived CALMs, revealing a new role for NF1 in the melanocyte lineage.
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome
Authors: Molho‐Pessach Vered , Sheffer Sivan , Siam Rula , Tams Spiro , Siam Ihab , Awwad Rula , Babay Sofia , Golender Julius , Simanovsky Natalia , Ramot Yuval , Zlotogorski Abraham
Published: March 2015

Background

Mutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [OMIM] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair. It is caused by homozygous as well as heterozygous mutations in DSP, which encodes the desmosomal plaque protein desmoplakin. An overlapping cardiocutaneous phenotype was also described with homozygous mutations in genes encoding two other desmosomal proteins; plakoglobin (Naxos disease; OMIM 601214) and desmocollin‐2 (OMIM 610476).

Methods

We performed clinical and molecular workups in two consanguineous Arab Palestinian families manifesting an autosomal recessive pattern of inheritance of the above mentioned clinical findings. Whole exome sequencing was employed in the search for the causing mutation.

Results

Affected family members suffered from biventricular involvement and arrhythmogenic right ventricular dysplasia based on echocardiography and magnetic resonance imaging. One patient who underwent implantation of an implantable cardioverter‐defibrillator (ICD) is still alive at the age of 59 years. Whole exome sequencing revealed two novel homozygous mutations in DSP, each affecting one family.

Conclusions

The association of woolly hair with palmoplantar keratoderma in a child should lead to a cardiac workup in the search for those at increased risk for sudden cardiac death. Early diagnosis and ICD implantation may be lifesaving. Whole exome sequencing should be utilized for rapid genetic analysis since the cardiocutaneous phenotype may result from mutations in one of several genes.
Cutaneous Disease in Autism Spectrum Disorder: A Review
Authors: Accordino Robert E. , Lucarelli Jennifer , Yan Albert C.
Published: March 2015

Dermatologic comorbid symptoms and conditions in persons with autism spectrum disorder (ASD) are compelling for several reasons, including problems with tactile sensory dysfunction in this population, a large number of syndromes with dermatologic findings and high rates of autism, nutritional and hormonal problems in ASD and their dermatologic manifestations, and the potential for overrepresentation of dermatologic symptoms that are neurobehavioral in nature. The current article reviews the available literature on the prevalence of comorbid dermatologic symptoms and conditions in children with ASD and identifies strategies for diagnosing and managing cutaneous disease in this population.
Is the noun ending a cue to grammatical gender processing? An ERP study on sentences in Italian
Authors: Caffarra Sendy , Siyanova‐Chanturia Anna , Pesciarelli Francesca , Vespignani Francesco , Cacciari Cristina
Published: March 2015

Gender‐to‐ending consistency has been shown to influence grammatical gender retrieval in isolated word presentation. Notwithstanding the wealth of evidence, the exact role and the time course of processing of this distributional information remain unclear. This ERP study investigated if and when the brain detects gender‐to‐ending consistency in sentences containing Italian determiner‐noun pairs. Determiners either agreed or disagreed in gender with the nouns whose endings were reliable or misleading cues to gender (transparent and irregular nouns). Transparent nouns elicited an increased frontal negativity and a late posterior positivity compared to irregular nouns (350–950 ms), suggesting that the system is sensitive to gender‐to‐ending consistency from relatively early stages of processing. Gender agreement violations evoked a similar LAN‐P600 pattern for both types of nouns. The present findings provide evidence for an early detection of reliable gender‐related endings during sentence reading.
New scoring system for the differentiation of chronic obstructive pulmonary disease and asthma
Authors: Lee Young Seok , Baek Seunghee , Ko Yousang , Kim Mi‐Yeong , Lee Hyun‐Kyung , Kim Tae‐Bum , Cho You Sook , Moon Hee‐Bom , Lee Sang‐Do , Oh Yeon‐Mok
Published: March 2015

Background and objective

It remains difficult to differentiate between chronic obstructive pulmonary disease (COPD) and asthma in clinical practice, especially in a primary care setting. The purpose of this study was to develop a new scoring system for differentiating between COPD and asthma, and to evaluate its effectiveness.

Methods

First, to identify important variables differentiating COPD from asthma, the data of 197 patients with COPD and 138 patients with asthma were assessed retrospectively. Secondly, a scoring system that was based on these variables was then developed, and its performance was internally validated using a bootstrapping‐based method. Thirdly, the scoring system was externally validated using prospectively collected data from patients with COPD (n = 104) or asthma (n = 96).

Results

The final scoring system was composed of the four variables: age of onset of breathlessness (<40 years, 0 points; 40–60 years, 2 points; >60 years, 4 points), continuous breathlessness (no, 0 points; yes, 1 point), diurnal variation of breathlessness (yes, 0 points; no, 1 point) and emphysematous change in chest X‐ray (no, 0 points; yes, 1 point). The patients were classified by their total score into three categories: 0–2 points, probable asthma; 3–4 points, difficult‐to‐differentiate; 5–7 points, probable COPD. The new scoring system performed well in the external validation dataset (area under the curve, 0.86; 95% confidence interval: 0.813–0.911; P < 0.001).

Conclusions

The new scoring system that was developed in this study may be a useful tool for differentiating between COPD and asthma in primary care.
Asbestos in Asia
Authors: Leong Su Lyn , Zainudin Rizka , Kazan‐Allen Laurie , Robinson Bruce W.
Published: March 2015

Asbestos is a global killer. Despite lessons learned in the developed world on the use of asbestos and its hazardous pulmonary consequences, its use continues to increase in Asia. Although some countries such as Japan, Korea and Singapore have curtailed the use of this mineral, there are numerous countries in Asia that continue to mine, import and use this fibre, particularly China, which is one of the largest consumers in the world. Numerous factors ranging from political and economic to the lack of understanding of asbestos and the management of asbestos‐related lung disease are keys to this observed trend. Awareness of these factors combined with early intervention may prevent the predicted Asian ‘tsunami’ of asbestos diseases.
Diagnostic evaluation for interventional bronchoscopists and radiologists in lung cancer practice
Authors: Lau W.F. Eddie , Ware Rob , Herth Felix J.F.
Published: March 2015

The global epidemic of lung cancer shows no signs of abating. It is generally accepted that accurate and cost‐efficient diagnostic evaluation is the first important step to achieve the best outcomes of treatment. This is true in the context of disease confirmation, treatment planning, treatment monitoring, detection of and management of treatment failure or prognostication.

Fortunately, major advances in the diagnostic evaluation of lung cancer have been made in the past three decades allowing more patients to get the appropriate treatment at the right time. This paper outlines how computed tomography, positron emission tomography/computed tomography and endobronchial ultrasound contribute to lung cancer management and discuss their strengths and weaknesses and their complimentary roles at different stages of lung cancer management.

Due to financial constraint and reimbursement restrictions, not all clinically important advances in the diagnostic evaluation of lung cancer have been readily accepted into routine clinical care. This enforces the need to maintain ongoing dialogue between cancer clinicians, imaging specialists and health‐care economists.
The Italian Taylor and His Boy or what Robert Armin did to Straparola
Authors: Equestri Alice
Published: March 2015

Robert Armin is well known as the last of Shakespeare's great stage clowns, the actor who inspired the creation of characters like Touchstone, Feste and Lavatch in Shakespeare's plays. He is less known as a pamphleteer, poet and playwright, despite the fact that he seems to have been quite productive in his time. This paper analyses in particular one of his most neglected works, entitled The Italian Taylor and His Boy (1609) in relation to its source, a novella of the collection ‘Le Piacevoli Notti’ [The Pleasant Nights'] (two volumes, 1550‐1553) by the Italian author Giovan Francesco Straparola. First, I give reasons for Armin's choice, arguing that the story of Maestro Lattanzio and Dionigi might have attracted the actor's attention for its points in common with his own life. Then, I show how Armin does not produce a mere ‘translation’ of Straparola, as has sometimes been implied, but he improves the source in many ways: changing the finale and adding to the text a captivating dramatic quality, refined imagery, learned allusions and references to his own background. Finally, I consider the literary and intellectual context that influenced the writing of the poem.