bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incidences de la composante biogénétique dans la reconnaissance de la filiation monosexuée en Espagne
Authors: Roca i Escoda Marta 
Published: December 2015

Cet article reprend des réflexions issues d’une recherche en bioéthique qui s’attachait à analyser le croisement de trois phénomènes : le développement des nouvelles technologies utilisées dans les processus de reproduction humaine ; leur encadrement juridique et normatif ; l’ouverture des droits aux minorités sexuelles, notamment la reconnaissance de l’homoparentalité. Mon propos se concentrera sur les évolutions juridiques dans le contexte espagnol concernant la filiation monosexuée, tant masculine que féminine, à travers les techniques de reproduction assistée. Ce choix est motivé par le fait que l’Espagne, en ouvrant le mariage aux couples homosexuels, est allée plus loin que d’autres pays européens dans la reconnaissance de la filiation homosexuelle. Mais dans les faits, plusieurs sortes de no man’s land juridiques posent des problèmes concrets quant à la reconnaissance de cette nouvelle filiation. C’est dans ces impasses juridiques que la composante biologique et génétique ressort fortement dans le débat juridico-politique actuel. L’analyse visera donc à montrer plus précisément comment, dans ces débats, la composante biogénétique est engagée dans la conception de la filiation, tant du point de vue du droit que des pratiques des couples homosexuels.
cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing
Authors: Raine Keiran M. , Hinton Jonathan , Butler Adam P. , Teague Jon W. , Davies Helen , Tarpey Patrick , Nik‐Zainal Serena , Campbell Peter J. 
Published: December 2015

AbstractcgpPindel is a modified version of Pindel that is optimized for detecting somatic insertions and deletions (indels) in cancer genomes and other samples compared to a reference control. Post‐hoc filters remove false positive calls, resulting in a high‐quality dataset for downstream analysis. This unit provides concise instructions for both a simple ‘one‐shot’ execution of cgpPindel and a more detailed approach suitable for large‐scale compute farms. © 2015 by John Wiley & Sons, Inc.
A glimpse beneath Antarctic sea ice: Platelet layer volume from multifrequency electromagnetic induction sounding
Authors: Hunkeler P. A. , Hoppmann M. , Hendricks S. , Kalscheuer T. , Gerdes R. 
Published: December 2015

AbstractIn Antarctica, ice crystals emerge from ice shelf cavities and accumulate in unconsolidated layers beneath nearby sea ice. Such sub‐ice platelet layers form a unique habitat and serve as an indicator for the state of an ice shelf. However, the lack of a suitable methodology impedes an efficient quantification of this phenomenon on scales beyond point measurements. In this study, we inverted multifrequency electromagnetic (EM) induction soundings, obtained on fast ice with an underlying platelet layer along profiles of 100 km length in the eastern Weddell Sea. EM‐derived platelet layer thickness and conductivity are consistent with other field observations. Our results suggest that platelet layer volume is higher than previously thought in this region and that platelet layer ice volume fraction is proportional to its thickness. We conclude that multifrequency EM is a suitable tool to determine platelet layer volume, with the potential to obtain crucial knowledge of associated processes in otherwise inaccessible ice shelf cavities.
Emergence of human influence on summer record‐breaking temperatures over Europe
Authors: Bador Margot , Terray Laurent , Boé Julien 
Published: December 2015

AbstractObservational analysis of Europe summer record‐breaking temperatures suggests that their occurrence differs from that expected in a stationary climate since the late 1980s. The observed cold and warm record evolution is well simulated by the ensemble mean of 27 coupled models from the Coupled Model Intercomparison Project phase 5 (CMIP5). We find that this evolution is still today within the range of internal variability derived from CMIP5 preindustrial simulations. We then estimate a time of emergence of the summer record anthropogenic influence in a world under a business as usual greenhouse gas emission scenario. We suggest a time of emergence around 2020 for the cold records and 2030 for the warm ones with an uncertainty of ± 20 years. By 2100, the multimodel ensemble mean indicates a tenfold increase of the number of warm records compared to the first half of the twentieth century and the quasi‐disappearance of cold records.
Electrical resistivity image of the South Atlantic continental margin derived from onshore and offshore magnetotelluric data
Authors: Kapinos G. , Weckmann U. , Jegen‐Kulcsar M. , Meqbel N. , Neska A. , Katjiuongua T. T. , Hoelz S. , Ritter O. 
Published: December 2015

AbstractWe present a deep electrical resistivity image from the passive continental margin in Namibia. The approximately 700 km long magnetotelluric profile follows the Walvis Ridge offshore, continues onshore across the Kaoko Mobile Belt and reaches onto the Congo Craton. Two‐dimensional inversion reveals moderately resistive material offshore, atypically low for oceanic lithosphere, reaching depths of 15–20 km. Such moderate resistivities are consistent with seismic P wave velocity models, which suggest up to 35 km thick crust. The Neoproterozoic rocks of the Kaoko Mobile Belt are resistive, but NNW‐striking major shear‐zones are imaged as subvertical, conductive structures in the upper and middle crust. Since the geophysical imprint of the shear zones is intact, opening of the South Atlantic in the Cretaceous did not alter the middle crust. The transition into the cratonic region coincides with a deepening of the high‐resistive material to depths of more than 60 km.
Lithospheric records of orogeny within the continental U.S.
Authors: Porter Ryan , Liu Yuanyuan , Holt William E. 
Published: December 2015

AbstractIn order to better understand the tectonic evolution of the North American continent, we utilize data from the EarthScope Transportable Array network to calculate a three‐dimensional shear velocity model for the continental United States. This model was produced through the inversion of Rayleigh wave phase velocities calculated using ambient noise tomography and wave gradiometry, which allows for sensitivity to a broad depth range. Shear velocities within this model highlight the influence of orogenic and postorogenic events on the evolution of the lithosphere. Most notable is the contrast in crustal and upper mantle structure between the relatively slow western and relatively fast eastern North America. These differences are unlikely to stem solely from thermal variations within the lithosphere and highlight both the complexities in lithospheric structure across the continental U.S. and the varying impacts that orogeny can have on the crust and upper mantle.
Regioselective Copper‐Catalyzed Oxidative Cross‐Coupling of Imidazo[1,2‐a]pyridines with Methyl Ketones: An Efficient Route for Synthesis of 1,2‐Diketones
Authors: Lei Sai , Chen GuiJun , Mai Yingying , Chen Longbin , Cai Huiyin , Tan Jingwen , Cao Hua 
Published: December 2015

AbstractAn efficient copper‐catalyzed oxidative coupling of imidazo[1,2‐a]pyridines with methyl ketones to directly generate structurally sophisticated 1,2‐dicarbonyl imidazo[1,2‐a]pyridine derivatives under oxidative conditions is described. The reaction proceeds in good yields using the environmental friendly molecular oxygen as the oxidant. 18O‐Labelling experiments unambiguously established that the oxygen of the dicarbonyl products originated from oxygen rather than from water.magnified image
Olfactory‐specific quality of life outcomes after endoscopic sinus surgery
Authors: Soler Zachary M. , Smith Timothy L. , Alt Jeremiah A. , Ramakrishnan Vijay R. , Mace Jess C. , Schlosser Rodney J. 
Published: December 2015

BackgroundOlfactory loss is a cardinal symptom of chronic rhinosinusitis (CRS) and affects 40% to 80% of patients. However, common sinus‐specific quality‐of‐life (QOL) instruments include only single questions related to olfaction. Few studies have explored olfactory outcomes after surgery utilizing validated, olfaction‐specific QOL questionnaires.MethodsPatients with CRS were enrolled from 3 centers across North America into a prospective cohort study. Patients completed the short modified version of the Questionnaire of Olfactory Disorders (QOD‐NS) and the 40‐item Smell Identification Test (SIT‐40) before and at least 6 months after endoscopic sinus surgery (ESS). Multivariate linear regression was used to determine whether specific demographic, comorbidity, or disease severity measures were independently associated with QOD scores at baseline or predicted change after surgery.ResultsA total of 121 patients, equally split between genders, were enrolled with an average age of 47.9 years (range, 18–80 years). Baseline total QOD‐NS scores were significantly associated with SIT‐40 scores, with a moderate strength of correlation (Rs = 0.400; p < 0.001). The average QOD‐NS score improved after ESS (35.7 ± 13.0 vs 39.7 ± 12.2; p = 0.006). Allergy, polyps, and steroid‐dependent conditions were found to be independently associated with worse preoperative QOD‐NS scores, whereas septal deviation was associated with better QOD‐NS scores. Baseline computed tomography (CT) scores were the only variable that significantly predicted change in QOD‐NS after surgery.ConclusionOlfaction‐specific QOL is worse in patients with polyps and comorbid allergy. Significant improvements in olfaction‐specific QOL are seen after ESS, with the greatest gains seen in those with worse CT scores at baseline.
Development of a clinically relevant endoscopic grading system for chronic rhinosinusitis using canonical correlation analysis
Authors: DeConde Adam S. , Bodner Todd E. , Mace Jess C. , Alt Jeremiah A. , Rudmik Luke , Smith Timothy L. 
Published: December 2015

BackgroundDiagnostic nasal endoscopy is a routine measure of sinonasal inflammation in patients with chronic rhinosinusitis (CRS). Although multiple staging systems have been proposed and evaluated, evidence of association between concurrent symptoms and endoscopic findings remains discordant. The goal of this study is to identify the relevant endoscopic attributes associated with symptom burden, and to systematically derive a weighted endoscopic scale that optimizes prediction of concurrent symptoms.MethodsReported baseline symptom (22‐item Sino‐Nasal Outcome Test [SNOT‐22]) and endoscopic evaluation scores (Lund‐Kennedy [LK]) were obtained from patients with CRS enrolled in a prospective cohort study. Canonical correlation analysis of the SNOT‐22 subdomains and LK variables was completed.ResultsA total of 629 patients were included in analysis including 343 with prior endoscopic sinus surgery. Significant canonical correlations outperformed aggregate correlations in explaining variance of the data (33% vs 3%, respectively). The first canonical correlation was dominated by the rhinologic symptom domain and the endoscopic polyp score (r = 0.54; p < 0.05) whereas additional significant canonical correlation was found between the extra‐rhinologic symptom subdomain and the edema score in patients without prior ESS (r = 0.21; p < 0.05), and discharge in patients with prior ESS (r = 0.22; p < 0.05). All other domains and endoscopic variables did not significantly contribute to the canonical correlation.ConclusionAlthough aggregate symptoms and endoscopic scores demonstrate minimal correlation, a weighted combination of symptom domains and endoscopic attributes greatly improves this correlation. A simple approximation of the weights of each of the endoscopic variables of polyps, edema, discharge, scarring, and crusting, is an approximate ratio of 4:2:1:0:0, respectively.
Nonselective chemokine levels in nasal secretions of patients with perennial nonallergic and allergic rhinitis
Authors: Perić Aleksandar , Sotirović Jelena , Špadijer‐Mirković Cveta , Matković‐Jožin Svjetlana , Perić Aneta V. , Vojvodić Danilo 
Published: December 2015

BackgroundAn increased production of several chemoattractants, responsible for guiding the eosinophilic inflammatory process, has been reported in chronic rhinitis. The aim of this study was to evaluate nasal secretion levels of monocyte chemoattractant protein‐1 (MCP‐1), MCP‐3, and regulated on activation normal T cell expressed and secreted (RANTES) and to correlate those levels with nasal symptoms and degree of eosinophilia in patients with nonallergic rhinitis with eosinophilia syndrome (NARES) and perennial allergic rhinitis (PAR).MethodsFourteen patients with PAR and 14 NARES patients were recruited for this cross‐sectional study. Fourteen healthy subjects were included as controls. The concentrations of MCP‐1, MCP‐3, and RANTES in nasal secretions were measured using enzyme‐linked immunosorbent assay (ELISA). Eosinophil counts were performed by percentage of differential granulocyte counts during cytological examination of scraped nasal mucosa obtained from the inferior turbinate. Therefore, we scored rhinitis patients according to nasal symptom score.ResultsWe found significantly higher concentrations of MCP‐1 (p < 0.0001), MCP‐3 (p = 0.018), and RANTES (p < 0.0001) in nasal fluid of NARES patients compared to patients with PAR. In PAR patients, we found positive correlation between RANTES levels and nasal symptom score and eosinophil counts. In patients with NARES, the concentrations of MCP‐1 and RANTES were associated with nasal symptom score and percentage of eosinophils.ConclusionNARES is characterized by higher degree of eosinophilic inflammation than PAR. RANTES correlates well with the level of eosinophilic inflammation in both diseases. The measurement of chemokine levels in nasal secretions could be useful in evaluating the degree of chronic nasal inflammation.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
Authors: Gardella Elena , Becker Felicitas , Møller Rikke S. , Schubert Julian , Lemke Johannes R. , Larsen Line H. G. , Eiberg Hans , Nothnagel Michael , Thiele Holger , Altmüller Janine , Syrbe Steffen , Merkenschlager Andreas , Bast Thomas , Steinhoff Bernhard , Nürnberg Peter , Mang Yuan , Bakke Møller Louise , Gellert Pia , Heron Sarah E. , Dibbens Leanne M. , Weckhuysen Sarah , Dahl Hans Atli , Biskup Saskia , Tommerup Niels , Hjalgrim Helle , Lerche Holger , Beniczky Sándor , Weber Yvonne G. 
Published: December 2015

ObjectiveBenign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination—known as infantile convulsions and paroxysmal choreoathetosis (ICCA)—are related autosomal dominant diseases. PRRT2 (proline‐rich transmembrane protein 2 gene) has been identified as the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases.MethodsWe searched for the genetic defect in PRRT2‐negative, unrelated families with BFIS or ICCA using whole exome or targeted gene panel sequencing, and performed a detailed cliniconeurophysiological workup.ResultsIn 3 families with a total of 16 affected members, we identified the same, cosegregating heterozygous missense mutation (c.4447G>A; p.E1483K) in SCN8A, encoding a voltage‐gated sodium channel. A founder effect was excluded by linkage analysis. All individuals except 1 had normal cognitive and motor milestones, neuroimaging, and interictal neurological status. Fifteen affected members presented with afebrile focal or generalized tonic–clonic seizures during the first to second year of life; 5 of them experienced single unprovoked seizures later on. One patient had seizures only at school age. All patients stayed otherwise seizure‐free, most without medication. Interictal electroencephalogram (EEG) was normal in all cases but 2. Five of 16 patients developed additional brief paroxysmal episodes in puberty, either dystonic/dyskinetic or “shivering” attacks, triggered by stretching, motor initiation, or emotional stimuli. In 1 case, we recorded typical PKD spells by video‐EEG‐polygraphy, documenting a cortical involvement.InterpretationOur study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical–genetic spectrum of combined epileptic and dyskinetic syndromes. ANN NEUROL 2016;79:428–436
Discriminating long myelitis of neuromyelitis optica from sarcoidosis
Authors: Flanagan Eoin P. , Kaufmann Timothy J. , Krecke Karl N. , Aksamit Allen J. , Pittock Sean J. , Keegan B. Mark , Giannini Caterina , Weinshenker Brian G. 
Published: December 2015

ObjectiveTo compare longitudinally extensive myelitis in neuromyelitis optica spectrum disorders (NMOSD) and spinal cord sarcoidosis (SCS).MethodsWe identified adult patients evaluated between 1996 and 2015 with SCS or NMOSD whose first myelitis episode was accompanied by a spinal cord lesion spanning ≥3 vertebral segments. All NMOSD patients were positive for aquaporin‐4–immunoglobulin G, and all sarcoidosis cases were pathologically confirmed. Clinical characteristics were evaluated. Spine magnetic resonance imaging was reviewed by 2 neuroradiologists.ResultsWe studied 71 patients (NMOSD, 37; SCS, 34). Sixteen (47%) SCS cases were initially diagnosed as NMOSD or idiopathic transverse myelitis. Median delay to diagnosis was longer for SCS than NMOSD (5 vs 1.5 months, p < 0.01). NMOSD myelitis patients were more commonly women, had concurrent or prior optic neuritis or intractable vomiting episodes more frequently, had shorter time to maximum deficit, and had systemic autoimmunity more often than SCS (p < 0.05). SCS patients had constitutional symptoms, cerebrospinal fluid (CSF) pleocytosis, and hilar adenopathy more frequently than NMOSD (p < 0.05); CSF hypoglycorrhachia (11%, p = 0.25) and elevated angiotensin‐converting enzyme (18%, p = 0.30) were exclusive to SCS. Dorsal cord subpial gadolinium enhancement extending ≥2 vertebral segments and persistent enhancement >2 months favored SCS, and ringlike enhancement favored NMOSD (p < 0.05). Maximum disability was similar in both disorders.InterpretationSCS is an under‐recognized cause of longitudinally extensive myelitis that commonly mimics NMOSD. We identified clinical, laboratory, systemic, and radiologic features that, taken together, help discriminate SCS from NMOSD. ANN NEUROL 2016;79:437–447
Asymmetric Modulation of Protein Order–Disorder Transitions by Phosphorylation and Partner Binding
Authors: Banerjee Priya R. , Mitrea Diana M. , Kriwacki Richard W. , Deniz Ashok A. 
Published: December 2015

AbstractAs for many intrinsically disordered proteins, order–disorder transitions in the N‐terminal oligomerization domain of the multifunctional nucleolar protein nucleophosmin (Npm‐N) are central to its function, with phosphorylation and partner binding acting as regulatory switches. However, the mechanism of this transition and its regulation remain poorly understood. In this study, single‐molecule and ensemble experiments revealed pathways with alternative sequences of folding and assembly steps for Npm‐N. Pathways could be switched by altering the ionic strength. Phosphorylation resulted in pathway‐specific effects, and decoupled folding and assembly steps to facilitate disorder. Conversely, binding to a physiological partner locked Npm‐N in ordered pentamers and counteracted the effects of phosphorylation. The mechanistic plasticity found in the Npm‐N order–disorder transition enabled a complex interplay of phosphorylation and partner‐binding steps to modulate its folding landscape.
Generation of Alkoxyl Radicals by Photoredox Catalysis Enables Selective C(sp3)−H Functionalization under Mild Reaction Conditions
Authors: Zhang Jing , Li Yang , Zhang Fuyuan , Hu Chenchen , Chen Yiyun 
Published: December 2015

AbstractReported herein is the first visible‐light‐induced formation of alkoxyl radicals from N‐alkoxyphthalimides, and the Hantzsch ester as the reductant is crucial for the reaction. The selective hydrogen atom abstraction by the alkoxyl radical enables C(sp3)−H allylation and alkenylation reactions under mild reaction conditions at room temperature. Broad substrate variations, including a structurally complexed steroid, undergo the C(sp3)−H functionalization reaction effectively with high regio‐ and chemoselectivity.
Fluorogenic Labeling of 5‐Formylpyrimidine Nucleotides in DNA and RNA
Authors: Samanta Biswajit , Seikowski Jan , Höbartner Claudia 
Published: December 2015

Abstract5‐Formylcytosine (5fC) and 5‐formyluracil (5fU) are natural nucleobase modifications that are generated by oxidative modification of 5‐methylcytosine and thymine (or 5‐methyluracil). Herein, we describe chemoselective labeling of 5‐formylpyrimidine nucleotides in DNA and RNA by fluorogenic aldol‐type condensation reactions with 2,3,3‐trimethylindole derivatives. Mild and specific reaction conditions were developed for 5fU and 5fC to produce hemicyanine‐like chromophores with distinct photophysical properties. Residue‐specific detection was established by fluorescence readout as well as primer‐extension assays. The reactions were optimized on DNA oligonucleotides and were equally suitable for the modification of 5fU‐ and 5fC‐modified RNA. This direct labeling approach of 5‐formylpyrimidines is expected to help in elucidating the occurrence, enzymatic transformations, and functional roles of these epigenetic/epitranscriptomic nucleobase modifications in DNA and RNA.
Molecular Motion and Structure around the Hydrated Ions Li+and Al3+
Authors: Hertz H. G. , Tutsch R. , Versmold H. 
Published: December 2015

AbstractExperimental results for the nuclear magnetic relaxation rate of Li7in H2O and D2O solutions of LiCl, LiBr, and LiI are reported. The relaxation contribution due to magnetic dipole‐dipole interaction is separated, the rotational correlation time of the vector connecting the cation with the 1st hydration water is determined and the latter time is compared with the correlation time of the H – H vector in H2O of the 1st hydration sphere. Both times are not equal which indicates that the water molecules rotates about the Li – O axis. The quadrupolar contribution to the relaxation rate of Li7is interpreted in terms of a break‐down of cubic symmetry in the hydration sphere as the salt concentration increases. Self‐diffusion data of Li+in LiCl, LiBr, and LiI solutions are as well reported and a structural interpretation of the concentration dependence is given.Proton relaxation rates of AlCl3solutions containing 100% H2O and of those which contain only a very small amount of HDO in D2O are given. The evaluation yields the result that the correlation times of the two vectors in the hydration sphere as described above are equal for Al3+. Some structural consequences are described, proton relaxation rates in Ga3+solutions, Al27relaxation rates in AlCl3solutions, and water self‐diffusion coefficients in AlCl3solutions are reported.
Synthesis of 1‐Naphthol by a Natural Peroxygenase Engineered by Directed Evolution
Authors: Molina‐Espeja Patricia , Cañellas Marina , Plou Francisco J. , Hofrichter Martin , Lucas Fatima , Guallar Victor , Alcalde Miguel 
Published: December 2015

AbstractThere is an increasing interest in enzymes that catalyze the hydroxylation of naphthalene under mild conditions and with minimal requirements. To address this challenge, an extracellular fungal aromatic peroxygenase with mono(per)oxygenase activity was engineered to convert naphthalene selectively into 1‐naphthol. Mutant libraries constructed by random mutagenesis and DNA recombination were screened for peroxygenase activity on naphthalene together with quenching of the undesired peroxidative activity on 1‐naphthol (one‐electron oxidation). The resulting double mutant (G241D‐R257K) obtained from this process was characterized biochemically and computationally. The conformational changes produced by directed evolution improved the substrate's catalytic position. Powered exclusively by catalytic concentrations of H2O2, this soluble and stable biocatalyst has a total turnover number of 50 000, with high regioselectivity (97 %) and reduced peroxidative activity.