bluuebunny/crossref_metadata_2025_split huggingface dataset:
Circulating cell‐free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis
Authors: Héritier Sébastien , Hélias‐Rodzewicz Zofia , Lapillonne Hélène , Terrones Nathalie , Garrigou Sonia , Normand Corinne , Barkaoui Mohamed‐Aziz , Miron Jean , Plat Geneviève , Aladjidi Nathalie , Pagnier Anne , Deville Anne , Gillibert‐Yvert Marion , Moshous Despina , Lefèvre‐Utile Alain , Lutun Anne , Paillard Catherine , Thomas Caroline , Jeziorski Eric , Nizard Philippe , Taly Valérie , Emile Jean‐François , Donadieu Jean 
Published: April 2017

SummaryThe BRAFV600E mutation is reported in half of patients with Langerhans cell histiocytosis (LCH). This study investigated the detection of the BRAFV600E allele in circulating cell‐free (ccf) DNA in a paediatric LCH cohort. Children with BRAFV600E‐mutated LCH were investigated to detect ccf BRAFV600E at diagnosis (n = 48) and during follow‐up (n = 17) using a picolitre‐droplet digital PCR assay. At diagnosis, ccf BRAFV600E was positive in 15/15 (100%) patients with risk‐organ positive multisystem (RO+ MS) LCH, 5/12 (42%) of patients with RO− MS LCH and 3/21 (14%) patients with single‐system (SS) LCH (P < 0·001, Fisher's exact test). The positive BRAFV600E load was higher for RO+ patients (mean, 2·90%; range, 0·04–11·4%) than for RO− patients (mean, 0·16%; range, 0·01–0·39) (P = 0·003, Mann–Whitney U test). After first‐line vinblastine‐steroid induction therapy, 7/7 (100%) of the non‐responders remained positive for ccf BRAFV600E compared to 2/4 (50%) of the partial‐responders and 0/4 of the complete responders (P = 0·002, Fisher's exact test). Six children treated with vemurafenib showed a clinical response that was associated with a decrease in the ccf BRAFV600E load at day 15. Thus, ccf BRAFV600E is a promising biomarker for monitoring the response to therapy for children with RO+ MS LCH or RO− LCH resistant to first‐line chemotherapy.
From genetic single candidate gene studies to complex genomics of GvHD
Authors: Bogunia‐Kubik Katarzyna , Łacina Piotr 
Published: April 2017

SummaryGraft‐versus‐host disease (GvHD) is a serious complication affecting the recipients of allogeneic haematopoietic stem cells. In this present review we attempt to summarize the current knowledge on the effect of the donor and recipient genotypes on GvHD, starting from human leucocyte antigen (HLA) matching for an optimal donor selection, typing of non‐classical HLA and minor histocompatibility antigens through the polymorphic variations in genes coding for non‐HLA proteins contributing to the development of GvHD and response to treatment. The results of recent Candidate Gene Studies (CGS) and Genome‐Wide Association Studies (GWAS) are presented and discussed.
Chronic lymphocytic leukaemia genomics and the precision medicine era
Authors: Ghamlouch Hussein , Nguyen‐Khac Florence , Bernard Olivier A. 
Published: April 2017

SummaryMassive genomic analyses have underscored the diversity of chronic lymphocytic leukaemia (CLL) between patients. Genetic heterogeneity of tumour clones within a patient may fuel tumour evolution. Several recurrently deregulated intra‐cellular pathways are candidates for targeted therapies that are very promising and are dramatically changing clinical patients’ perspectives. In this review we present an overview of the genetic and epigenetic features of CLL and their clinical and biological implications.
Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency
Authors: Scaglia Paula A. , Keselman Ana C. , Braslavsky Débora , Martucci Lucía C. , Karabatas Liliana M. , Domené Sabina , Gutiérrez Mariana L. , Ballerini María G. , Ropelato María G. , Spinola‐Castro Angela , Siviero‐Miachon Adriana A. , Tartuci Juliana Saito , Rodríguez Azrak María Sol , Rey Rodolfo A. , Jasper Héctor G. , Bergadá Ignacio , Domené Horacio M. 
Published: April 2017

SummaryObjectiveAcid‐labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in IGF‐I and IGFBP‐3 levels associated with mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families.DesignAuxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives.MethodsSerum levels of IGF‐I, IGFBP‐3, acid‐labile subunit (ALS), and in vitro ternary complex formation (ivTCF) were determined. After sequencing the IGFALS gene, pathogenicity of novel identified variants was evaluated by in vitro expression in transfected Chinese hamster ovarian (CHO) cells. ALS protein was detected in patients′ sera and CHO cells conditioned media and lysates by Western immunoblot (WIB).ResultsFour index cases and four relatives were diagnosed with ACLSD. The following variants were found: p.Glu35Glyfs*17, p.Glu35Lysfs*87, p.Leu213Phe, p.Asn276Ser, p.Leu409Phe, p.Ala475Val and p.Ser490Trp. ACLSD patients presented low IGF‐I and low or undetectable levels of IGFBP‐3 and ALS. Seven out of 8 patients did not form ivTCF.ConclusionsThis study confirms previous findings in ACLSD, such as the low IGF‐I and a more severe reduction in IGFBP‐3 levels, and a gene dosage effect observed in heterozygous carriers (HC). In addition, father‐to‐son transmission (father compound heterozygous and mother HC), preservation of male fertility, and marginal ALS expression with potential involvement in preserved responsiveness to rhGH treatment, are all novel aspects, not previously reported in this condition.
H‐reflex and M‐wave recordings: effect of pressure application to the stimulation electrode on the assessment of evoked potentials and subject's discomfort
Authors: Cattagni Thomas , Merlet Angèle N. , Cornu Christophe , Jubeau Marc 
Published: April 2017

SummaryThis study aimed to compare the effect of different types of pressure applied to the stimulation electrode on assessing the efficiency of Ia‐α‐motoneuron transmission of the soleus muscle and the associated discomfort using electrical nerve stimulation. Twelve healthy young adults participated in three experimental sessions (one for each knee angle). The amplitudes of the maximal Hoffmann reflex (Hmax) and motor potential (Mmax) were recorded from the soleus muscle at 0°, 30° and 90° knee angles (0° full extension) through three pressure applications to the stimulation electrode: no pressure, pressure with manual application and pressure using adhesive tape. The soleus Hmax/Mmax were calculated to assess the efficiency of Ia‐α‐motoneuron transmission during varied knee angles and pressure application to the stimulation electrode. At the stimulation intensity evoking soleus Hmax and Mmax, subjects were asked to orally provide a value between ‘no discomfort’ (0) and ‘worst possible discomfort’ (10). The application of pressure on the stimulation electrode, particularly using adhesive tape, decreased both the stimulation intensity needed to evoke an electrophysiological response and the associated self‐reported discomfort (P<0·05), while the Hmax/Mmax remained constant. At the stimulation intensity evoking Mmax, the electrical stimulation appeared to be more painful at 0° knee angle compared with 30° and 90° angles (P<0·01). To conclude, this study showed that a knee flexion and a pressure application to the stimulation electrode, especially using tape pressure, are recommended in the objective to reduce the patient/subjects’ discomfort when eliciting evoked potentials on soleus muscle.
The Rise and Demise of the Middle East Quest for Reforms, 2011–2017
Authors: Aman Mohammed M. 
Published: April 2017

AbstractSix years have passed since Arab masses in Tunisia, Egypt, Libya, Syria, Bahrain, and Yemen revolted against oppressive, corrupt, and autocratic regimes. These and lesser revolts in Morocco and Jordan — as well as muted ones in the oil producing Gulf States — shared common goals and themes: justice, dignity, economic, political, and social reforms (el‐Gingihy,). The revolutionaries wanted to end government bloating and oppressive bureaucracies; and political and massive public corruption by the ruling classes; and instead, involve citizens in the participation in governance and policymaking. The oil‐rich countries were quick to shower their nationals with salary bonuses and more generous subsidies. The poorer Arab countries were quick to unleash their violent security forces on the masses in order to quell the uprisings using brute military force, including using poison gas in Syria, and operating mass killings of demonstrators at Rab‘a Square in Cairo, Egypt. With the exception of Tunisia, the rest of the Arab countries reverted to oppressive regimes, or civil war chaos, as was the case in Libya and Yemen. The United States, which hailed the Arab uprisings during the reign of the Obama Administration, has changed course under the isolationist Trump Administration, which looks upon all Arabs and Muslim people and nations as potential supporters of what the current administration labels as Muslim terrorism. Along with an analysis of events in the region, this article also reviews the most recent books published which deal with the Arab revolts, and which include what lies ahead for the Arab world under the new rulers who replaced old regimes. It will also analyze the Arab countries’ response to a Trump Administration that seems to adopt political isolationism, while at the same time, showing an obvious inclination for personal and national business involvement in the region, such as the recent opening of a Trump golf course in the United Arab Emirates, and the appointment of former MOBIL CEO Executive Rex Tillerson, who has strong business ties with Russia and the oil‐producing Gulf States.
Political budget cycles: Evidence from Italian cities
Authors: Alesina Alberto , Paradisi Matteo 
Published: April 2017

AbstractThe introduction of a new real estate taxes in Italy in 2011 provides a natural experiment, which is useful to test for political budget cycles. The new real estate tax allowed discretion to local governments. This generates a random variation in the distance of municipalities from the following elections when they choose the level of the tax rate. We do find substantial evidence of political budget cycles, with municipalities choosing lower tax rates when close to elections. We observe this budget cycle for smaller municipalities where the tax was more likely to be the single most important issue for the local government. Cities close to elections with large deficits did not set lower rates and so did municipalities with a lower average value of properties. Finally, the political budget cycle is stronger in the South.
Transforming Ways of Enhancing Foreign Language Acquisition in the Spanish Classroom: Experiential Learning Approaches
Authors: Moreno‐López Isabel , Ramos‐Sellman Aida , Miranda‐Aldaco Citlali , Gomis Quinto Maria Teresa 
Published: April 2017

AbstractThe researchers used qualitative and quantitative instruments to measure students’ linguistic gains and their opinions and attitudes toward intercultural awareness while studying Spanish as a foreign language under four different pedagogical models: a traditional face‐to‐face classroom, face‐to‐face classes with a community‐based learning component, face‐to‐face courses with an online telecollaborative language‐learning component, and study abroad. Quantitative findings from two knowledge‐based assessments indicated that students’ language learning was equivalent in all four pedagogical models. Students’ survey responses indicated that they believed that moving beyond traditional instructional models by adding classes with experiential learning boosted their second language acquisition and fueled their curiosity about cultural similarities and differences. Qualitative findings also confirmed that students’ engagement was higher in the experiential models.
A Tiered Approach to Evaluating Salinity Sources in Water at Oil and Gas Production Sites
Authors: Paquette Shawn M. , Molofsky Lisa J. , Connor John A. , Walker Kenneth L. , Hopkins Harley , Chakraborty Ayan 
Published: April 2017

AbstractA suspected increase in the salinity of fresh water resources can trigger a site investigation to identify the source(s) of salinity and the extent of any impacts. These investigations can be complicated by the presence of naturally elevated total dissolved solids or chlorides concentrations, multiple potential sources of salinity, and incomplete data and information on both naturally occurring conditions and the characteristics of potential sources. As a result, data evaluation techniques that are effective at one site may not be effective at another. In order to match the complexity of the evaluation effort to the complexity of the specific site, this paper presents a strategic tiered approach that utilizes established techniques for evaluating and identifying the source(s) of salinity in an efficient step‐by‐step manner. The tiered approach includes: (1) a simple screening process to evaluate whether an impact has occurred and if the source is readily apparent; (2) basic geochemical characterization of the impacted water resource(s) and potential salinity sources coupled with simple visual and statistical data evaluation methods to determine the source(s); and (3) advanced laboratory analyses (e.g., isotopes) and data evaluation methods to identify the source(s) and the extent of salinity impacts where it was not otherwise conclusive. A case study from the U.S. Gulf Coast is presented to illustrate the application of this tiered approach.
Urine assay for tenofovir to monitor adherence in real time to tenofovir disoproxil fumarate/emtricitabine as pre‐exposure prophylaxis
Authors: Koenig HC , Mounzer K , Daughtridge GW , Sloan CE , Lalley‐Chareczko L , Moorthy GS , Conyngham SC , Zuppa AF , Montaner LJ , Tebas P 
Published: April 2017

ObjectivesTenofovir disoproxil fumarate/emtricitabine (TDF/FTC) is approved for pre‐exposure prophylaxis (PrEP) against HIV infection. Adherence is critical for the success of PrEP, but current adherence measurements are inadequate for real‐time adherence monitoring. We developed and validated a urine assay to measure tenofovir (TFV) to objectively monitor adherence to PrEP.MethodsWe developed a urine assay using high‐performance liquid chromatography coupled to tandem mass spectrometry with high sensitivity/specificity for TFV that allowed us to determine TFV concentrations in log10 categories between 0 and 10 000 ng/mL. We validated the assay in three cohorts: (1) HIV‐positive subjects with undetectable viral loads on a TDF/FTC‐based regimen, (2) healthy HIV‐negative subjects who received a single dose of TDF/FTC, and (3) HIV‐negative subjects receiving daily TDF/FTC as PrEP for 24 weeks.ResultsThe urine assay detected TFV with greater sensitivity than plasma‐based measures and with a window of measurements within 7 days of the last TDF/FTC dose. Based on the urine log‐linear clearance after the last dose and its concordance with all detectable plasma levels, a urine TFV concentration > 1000 ng/mL was identified as highly predictive of the presence of TFV in plasma at > 10 ng/mL. The urine assay was able to distinguish high and low adherence patterns within the last 48 h (> 1000 ng/mL versus 10–1000 ng/mL), as well as nonadherence (< 10 ng/mL) extended over at least 1 week prior to measurement.ConclusionsWe provide proof of concept that a semiquantitative urine assay measuring levels of TFV could be further developed into a point‐of‐care test and be a useful tool to monitor adherence to PrEP.
Radioluminescence study of calcium tungstate crystalline powders and ceramics
Authors: Carvalho Emanoel , Soares Victor , Leães Cristiane Ayala , Paiva Getulio Eduardo , Silva Ronaldo , Silva Marcelo 
Published: April 2017

AbstractIn this paper, the optical absorption and radioluminescence (RL) of polycrystalline ceramic and powder CaWO4 are studied. The samples were synthesized via a solid‐state method. Differential thermal analysis and thermogravimetric (DTA/TG) measurements indicate a minimum temperature of 700°C for calcination of precursors. The crystalline phase of the samples of calcium tungstate was investigated by X‐ray diffraction (XRD). The RL of the crystal powder and ceramics are in agreement with that present in the literature for bulk single crystals, presenting a single emission band centered at 420 nm when irradiated with β‐rays. UV‐vis absorption spectroscopy shows that the maximum absorption band of the CaWO4 sample is at around 400 nm, indicating the presence of mixed valence states of W5+ and W6+, associated with a possible breaking of structural symmetry caused by WO4 tetrahedral distortion.
Detection of Mycobacterium avium subsp. paratuberculosis in non‐human primates
Authors: Fechner Kim , Mätz‐Rensing Kerstin , Lampe Karen , Kaup Franz‐Josef , Czerny Claus‐Peter , Schäfer Jenny 
Published: April 2017

AbstractBackgroundDue to a sporadic occurrence of Mycobacterium avium subsp. paratuberculosis (MAP) in non‐human primates (NHP), the susceptibility of different NHP to MAP should be investigated.MethodsFecal and tissue samples (ileum, ileocecal lymph node, bone marrow) of 20 animals (seven species) were analyzed by IS900‐based PCRs and sequenced. Samples of MAP PCR positive NHP were further cultivated.ResultsMAP DNA was detectable in two animals; the ileum of a cottontop tamarin and the bone marrow of a common marmoset. Cultivation of MAP failed. Sequence analysis revealed 100% homology to the MAP‐K10 sequence. Pathohistological examinations offered no direct correlation to a MAP infection.ConclusionsMAP was detected for the first time in a common marmoset. But as both NHP suffered from other diseases, an asymptomatic infection with MAP was assumed. The detection of MAP in the bone marrow might play a role in establishing latent paratuberculosis, as known from tuberculosis.
Calm to chaos: Engaging undergraduate nursing students with the complex nature of interruptions during medication administration
Authors: Hayes Carolyn , Jackson Debra , Davidson Patricia M. , Daly John , Power Tamara 
Published: April 2017

Aims and ObjectivesTo describe undergraduate student nurse responses to a simulated role‐play experience focussing on managing interruptions during medication administration.BackgroundImproving patient safety requires that we find creative and innovative methods of teaching medication administration to undergraduate nurses in real‐world conditions. Nurses are responsible for the majority of medication administrations in health care. Incidents and errors associated with medications are a significant patient safety issue and often occur as a result of interruptions. Undergraduate nursing students are generally taught medication administration skills in a calm and uninterrupted simulated environment. However, in the clinical environment medication administration is challenged by multiple interruptions.Design/MethodsA qualitative study using convenience sampling was used to examine student perceptions of a simulated role‐play experience. Data were collected from 451 of a possible 528 student written reflective responses and subject to thematic analysis.ResultsStudents reported an increased understanding of the impacts of interruptions while administering medications and an improved awareness of how to manage disruptions. This study reports on one of three emergent themes: “Calm to chaos: engaging with the complex nature of clinical practice.”ConclusionsInterrupting medication administration in realistic and safe settings facilitates awareness, allows for students to begin to develop management strategies in relation to interruption and increases their confidence. Students were given the opportunity to consolidate and integrate prior and new knowledge and skills through this role‐play simulation.
Facets of Agency in Stories of Transforming From Childless by Choice to Mother
Authors: Moore Julia 
Published: April 2017

AbstractFamily scholars have explored in depth how and why some women choose to never have children. However, some childless‐by‐choice (also termed childfree or voluntarily childless) women—who have declared their desire and intention to never have children—ultimately become mothers because of changes in choice or circumstance. Through a qualitative analysis of interviews with mothers who once articulated themselves as permanently childless by choice, this article presents three facets of agency in women's stories about childbearing transformations: accidental conception, ambiguous desire, and purposeful decision. Participant interviews indicated that each facet of agency was enabled and constrained by multiple individual, relational, and cultural considerations, including self‐described biological urges, partners' childbearing desires and intentions, and cultural stigma against abortion. Pathways from childless by choice to mother often encompass multiple facets of agency and include movements in and out of various fertility desires and intentions before conceiving.
Corporate Pensions and the Maturity Structure of Debt
Authors: Lin Yijia , Liu Sheen , Yu Jifeng 
Published: April 2017

AbstractIn this article, we investigate the role of pension obligations, the most significant off‐balance‐sheet item, in determining corporate debt maturity and spreads. We begin by showing a significant and robust positive relationship between pension liabilities and corporate short‐term debt ratio. We also find that more pension obligations cause a significant increase in the cost of debt, but this effect is mitigated by short‐maturity debt. Overall, our study shows that short‐term debt can reduce asymmetric information costs related to pensions.
Invasive fungal infections in paediatric patients treated with macromolecular immunomodulators other than tumour necrosis alpha inhibitors
Authors: Kyriakidis Ioannis , Tragiannidis Athanasios , Zündorf Ilse , Groll Andreas H. 
Published: April 2017

SummaryAn expanding list of immunomodulatory or immunosuppressive monoclonal antibodies (mAbs) and biologic therapeutics is currently entering clinical practice, particularly in the areas of oncology, transplantation and autoimmune disorders. These agents are directed against molecules or cells involved in inflammation and immunity and may therefore be associated with serious and opportunistic infections. The purpose of this review was to critically analyse the literature on invasive fungal infections (IFIs) occurring in association with mAbs and fusion proteins other than tumour necrosis alpha (TNF‐α) inhibitors, including therapeutics modulating T‐cell‐mediated pathologies (muromonab, abatacept, belatacept, ipilimumab, basiliximab, daclizumab), inducing lymphopenia (alemtuzumab), depleting CD20+ B cells (rituximab) and interfering with various targets (anakinra, natalizumab, blodalumab, ixekizumab and others) with a focus on children, and to provide a framework of evaluating the risk for IFIs in this population.