bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, polysomnographic and genome‐wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study
Authors: Luca Gianina , Haba‐Rubio José , Dauvilliers Yves , Lammers Gert‐Jan , Overeem Sebastiaan , Donjacour Claire E. , Mayer Geert , Javidi Sirous , Iranzo Alex , Santamaria Joan , Peraita‐Adrados Rosa , Hor Hyun , Kutalik Zoltan , Plazzi Giuseppe , Poli Francesca , Pizza Fabio , Arnulf Isabelle , Lecendreux Michel , Bassetti Claudio , Mathis Johannes , Heinzer Raphael , Jennum Poul , Knudsen Stine , Geisler Peter , Wierzbicka Aleksandra , Feketeova Eva , Pfister Corinne , Khatami Ramin , Baumann Christian , Tafti Mehdi ,   European Narcolepsy Network (EU‐NN)
Published: March 2013

SummaryThe aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European Narcolepsy Network (EU‐NN). We have analysed retrospective data of 1099 patients with narcolepsy diagnosed according to International Classification of Sleep Disorders‐2. Demographic and clinical characteristics, polysomnography and multiple sleep latency test data, hypocretin‐1 levels, and genome‐wide genotypes were available. We found a significantly lower age at sleepiness onset (men versus women: 23.74 ± 12.43 versus 21.49 ± 11.83, P = 0.003) and longer diagnostic delay in women (men versus women: 13.82 ± 13.79 versus 15.62 ± 14.94, P = 0.044). The mean diagnostic delay was 14.63 ± 14.31 years, and longer delay was associated with higher body mass index. The best predictors of short diagnostic delay were young age at diagnosis, cataplexy as the first symptom and higher frequency of cataplexy attacks. The mean multiple sleep latency negatively correlated with Epworth Sleepiness Scale (ESS) and with the number of sleep‐onset rapid eye movement periods (SOREMPs), but none of the polysomnographic variables was associated with subjective or objective measures of sleepiness. Variant rs2859998 in UBXN2B gene showed a strong association (P = 1.28E‐07) with the age at onset of excessive daytime sleepiness, and rs12425451 near the transcription factor TEAD4 (P = 1.97E‐07) with the age at onset of cataplexy. Altogether, our results indicate that the diagnostic delay remains extremely long, age and gender substantially affect symptoms, and that a genetic predisposition affects the age at onset of symptoms.
Tunica Vaginalis Pedicle Flap for Reconstruction of Anterior Urethral Stricture
Authors: YAQUBI Abdul‐Ali , YUAN Wu Wen , MEI Shen Hong , XIONG Jin Tie 
Published: March 2013

ObjectiveTo evaluate the intermediate‐term clinical efficacy and success rate of tunica vaginalis (TV) pedicle flap for reconstruction of bulbo‐penile urethral stricture.MethodsWe assessed the medical records of 15 male patients who had undergone TV pedicle flap urethroplasty for reconstruction of anterior urethral stricture between January 2006 and December 2011. The surgical outcome was assessed by comparison of four parameters including the maximum flow rate (Qmax), international prostate symptom score (IPSS), residual urine (RU) and quality of life (QOL) in all patients pre‐ and postoperatively. Moreover, pre‐ and postoperative retrograde urethrography films were compared in all patients. t‐test was used for data analysis.ResultsThe mean patient age was 38.1 ± 9.3 years (range: 25–55), mean stricture length was 4.2 ± 1.1 cm (range: 3–6.1 cm), and the mean follow up time was 14.6 ± 1.9 months (range: 12–18) months. There was a statistically significant difference between Q(max), IPSS, RU and QOL pre‐ and postoperatively (P < 0.01). The clinical success rate in this study was 86.6% (13/15). The early complication was one case of wound infection and subsequent wound dehiscence, one case of hematoma formation in another patient, which did not have any influence in the long‐term clinical outcome.ConclusionAt intermediate‐term follow up, TV pedicle flap urethroplasty has a high clinical success rate with low complication. However, a large clinical trial with long‐term follow up is needed to confirm the result.
Conclusive evidence for panmixia in the American eel
Authors: Pujolar Jose M. 
Published: March 2013

Eels are unique species in the biological world. The two North Atlantic eel species, the American eel (Anguilla rostrata) and the European eel (A. anguilla), occupy a broad range of habitats from the Caribbean to Greenland in the western Atlantic and from Morocco to Iceland in the eastern Atlantic, respectively. North Atlantic eels have a catadromous life cycle, spawning only in the Sargasso Sea and spending the majority of their lives in continental (fresh, brackish and coastal) waters. Despite such a wide distribution range, North Atlantic eels have been regarded as a textbook example of panmictic species. In contrast with the large amount of population genetic studies testing the panmixia hypothesis in the European eel, a relatively modest effort has been given to study the population structure of the American eel. In this issue of Molecular Ecology, Côté et al. () present the most comprehensive American eel data set to date, which includes samples of different life stages obtained throughout all its distribution range in North America. Results show a total lack of genetic differentiation among samples and provide decisive evidence for panmixia in the American eel.
Ancient DNA supports southern survival of Richardson's collared lemming (Dicrostonyx richardsoni) during the last glacial maximum
Authors: Fulton Tara L. , Norris Ryan W. , Graham Russell W. , Semken Holmes A. , Shapiro Beth 
Published: March 2013

AbstractCollared lemmings (genus Dicrostonyx) are circumpolar Arctic arvicoline rodents associated with tundra. However, during the last glacial maximum (LGM), Dicrostonyx lived along the southern ice margin of the Laurentide ice sheet in communities comprising both temperate and boreal species. To better understand these communities and the fate of these southern individuals, we compare mitochondrial cytochrome b sequence data from three LGM‐age Dicrostonyx fossils from south of the Laurentide ice sheet to sequences from modern Dicrostonyx sampled from across their present‐day range. We test whether the Dicrostonyx populations from LGM‐age continental USA became extinct at the Pleistocene–Holocene transition ~11000 years ago or, alternatively, if they belong to an extant species whose habitat preferences can be used to infer the palaeoclimate along the glacial margin. Our results indicate that LGM‐age Dicrostonyx from Iowa and South Dakota belong to Dicrostonyx richardsoni, which currently lives in a temperate tundra environment west of Hudson Bay, Canada. This suggests a palaeoclimate south of the Laurentide ice sheet that contains elements similar to the more temperate shrub tundra characteristic of extant D. richardsoni habitat, rather than the very cold, dry tundra of the Northern Arctic. While more data are required to determine whether or not the LGM southern population is ancestral to extant D. richardsoni, it seems most probable that the species survived the LGM in a southern refugium.
Investigating a possible role for the bacterial signal molecules N‐acylhomoserine lactones in Balanus improvisus cyprid settlement
Authors: Tait Karen , Havenhand Jon 
Published: March 2013

AbstractIncreased settlement on bacterial biofilms has been demonstrated for a number of marine invertebrate larvae, but the nature of the cue(s) responsible is not well understood. We tested the hypothesis that the bay barnacle Balanus improvisus utilizes the bacterial signal molecules N‐acylhomoserine lactones (AHLs) as a cue for the selection of sites for permanent attachment. Single species biofilms of the AHL‐producing bacteria Vibrio anguillarum, Aeromonas hydrophila and Sulfitobacter sp. BR1 were attractive to settling cypris larvae of B. improvisus. However, when AHL production was inactivated, either by mutation of the AHL synthetic genes or by expression of an AHL‐degrading gene (aiiA), the ability of the bacteria to attract cyprids was abolished. In addition, cyprids actively explored biofilms of E. coli expressing the recombinant AHL synthase genes luxI from Vibrio fischeri (3‐oxo‐C6‐HSL), rhlI from Pseudomonas aeruginosa (C4‐HSL/C6‐HSL), vanI from V. anguillarum (3‐oxo‐C10‐HSL) and sulI from Sulfitobacter sp. BR1 (C4‐HSL, 3‐hydroxy‐C6‐HSL, C8‐HSL and 3‐hydroxy‐C10‐HSL), but not E. coli that did not produce AHLs. Finally, synthetic AHLs (C8‐HSL, 3‐oxo‐C10‐HSL and C12‐HSL) at concentrations similar to those found within natural biofilms (5 μm) resulted in increased cyprid settlement. Thus, B. improvisus cypris exploration of and settlement on biofilms appears to be mediated by AHL‐signalling bacteria in the laboratory. This adds to our understanding of how quorum sensing inhibition may be used as for biofouling control. Nonetheless, the significance of our results for larvae settling naturally in the field, and the mechanisms that underlay the observed responses to AHLs, is as yet unknown.
Urban land use limits regional bumble bee gene flow
Authors: Jha Shalene , Kremen C. 
Published: March 2013

AbstractPotential declines in native pollinator communities and increased reliance on pollinator‐dependent crops have raised concerns about native pollinator conservation and dispersal across human‐altered landscapes. Bumble bees are one of the most effective native pollinators and are often the first to be extirpated in human‐altered habitats, yet little is known about how bumble bees move across fine spatial scales and what landscapes promote or limit their gene flow. In this study, we examine regional genetic differentiation and fine‐scale relatedness patterns of the yellow‐faced bumble bee,Bombus vosnesenskii,to investigate how current and historic habitat composition impact gene flow. We conducted our study across a landscape mosaic of natural, agricultural and urban/suburban habitats, and we show thatB. vosnesenskiiexhibits low but significant levels of differentiation across the study system (FST = 0.019,Dest = 0.049). Most importantly, we reveal significant relationships between pairwiseFSTand resistance models created from contemporary land use maps. Specifically,B. vosnesenskiigene flow is most limited by commercial, industrial and transportation‐related impervious cover. Finally, our fine‐scale analysis reveals significant but declining relatedness between individuals at the 1–9 km spatial scale, most likely due to local queen dispersal. Overall, our results indicate thatB. vosnesenskiiexhibits considerable local dispersal and that regional gene flow is significantly limited by impervious cover associated with urbanization.
Development of genetic diversity, differentiation and structure over 500 years in four ponderosa pine populations
Authors: Lesser M. R. , Parchman T. L. , Jackson S. T. 
Published: March 2013

AbstractPopulation history plays an important role in shaping contemporary levels of genetic variation and geographic structure. This is especially true in small, isolated range‐margin populations, where effects of inbreeding, genetic drift and gene flow may be more pronounced than in large continuous populations. Effects of landscape fragmentation and isolation distance may have implications for persistence of range‐margin populations if they are demographic sinks. We studied four small, disjunct populations of ponderosa pine over a 500‐year period. We coupled demographic data obtained through dendroecological methods with microsatellite data to discern how and when contemporary levels of allelic diversity, among and within‐population levels of differentiation, and geographic structure, arose. Alleles accumulated rapidly following initial colonization, demonstrating proportionally high levels of gene flow into the populations. At population sizes of approximately 100 individuals, allele accumulation saturated. Levels of genetic differentiation among populations (FSTand Jost'sDest) and diversity within populations (FIS) remained stable through time. There was no evidence of geographic genetic structure at any time in the populations' history. Proportionally, high gene flow in the early stages of population growth resulted in rapid accumulation of alleles and quickly created relatively homogenous genetic patterns among populations. Our study demonstrates that contemporary levels of genetic diversity were formed quickly and early in population development. How contemporary genetic diversity accumulates over time is a key facet of understanding population growth and development. This is especially relevant given the extent and speed at which species ranges are predicted to shift in the coming century.
Genetic signature of a range expansion and leap‐frog event after the recent invasion of Europe by the grapevine downy mildew pathogen Plasmopara viticola
Authors: Fontaine Michael C. , Austerlitz Fréderic , Giraud Tatiana , Labbé Frédéric , Papura Daciana , Richard‐Cervera Sylvie , Delmotte François 
Published: March 2013

AbstractBiologic invasions can have important ecological, economic and social consequences, particularly when they involve the introduction and spread of plant invasive pathogens, as they can threaten natural ecosystems and jeopardize the production of human food. Examples include the grapevine downy mildew, caused by the oomycete Plasmopara viticola, an invasive species native to North America, introduced into Europe in the 1870s. We investigated the introduction and spread of this invasive pathogen, by analysing its genetic structure and diversity in a large sample from European vineyards. Populations of P. viticola across Europe displayed little genetic diversity, consistent with the occurrence of a bottleneck at the time of introduction. Bayesian coalescent analyses revealed a clear population expansion signal in the genetic data. We detected a weak, but significant, continental‐wide population structure, with two geographically and genetically distinct clusters in Western and Eastern European vineyards. Approximate Bayesian computation, analyses of clines of genetic diversity and of isolation‐by‐distance patterns provided evidence for a wave of colonization moving in an easterly direction across Europe. This is consistent with historical reports, first mentioning the introduction of the disease in Bordeaux vineyards (France) and sub‐sequently documenting its rapid spread across Europe. This initial introduction in the west was probably followed by a ‘leap‐frog’ event into Eastern Europe, leading to the formation of the two genetic clusters we detected. This study shows that recent population genetics methods within the Bayesian and coalescence frameworks are extremely powerful for increasing our understanding of pathogen population dynamics and invasion histories.
A Two‐Step Model Updating Algorithm for Parameter Identification of Linear Elastic Damped Structures
Authors: García‐Palencia Antonio Javier , Santini‐Bell Erin 
Published: March 2013

AbstractA Frequency Response Functions (FRFs)‐based two‐step algorithm to identify stiffness, mass, and viscous damping matrices is developed in this work. The proposed technique uses the difference between the experimentally recorded FRF and their analytical counterparts by minimizing the resultant error function at selected frequency points. In the first step, only mass and stiffness matrices are updated while keeping the uncalibrated viscous damping matrix constant. In the second step, the damping matrix is updated via changes on the selected unknown modal damping ratios. By using a stacking procedure of the presented error function that combines multiple data sets, adverse effects of noise on the estimated modal damping ratios are decreased by averaging the FRF amplitudes at resonant peaks. The application of this methodology is presented utilizing experimentally obtained data. The presented algorithm can perform an accurate structural identification via model updating, with a viscous damping matrix that captures the variation of the modal damping ratios with natural frequencies as opposed to other conventional proportional damping matrix formulations.
In vitro antifungal activity of topical and systemic antifungal drugs against Malassezia species
Authors: Carrillo‐Muñoz Alfonso Javier , Rojas Florencia , Tur‐Tur Cristina , de los Ángeles Sosa María , Diez Gustavo Ortiz , Espada Carmen Martín , Payá María Jesús , Giusiano Gustavo 
Published: March 2013

SummaryThe strict nutritional requirements of Malassezia species make it difficult to test the antifungal susceptibility. Treatments of the chronic and recurrent infections associated with Malassezia spp. are usually ineffective. The objective of this study was to obtain in vitro susceptibility profile of 76 clinical isolates of Malassezia species against 16 antifungal drugs used for topical or systemic treatment. Isolates were identified by restriction fragment length polymorphism. Minimal inhibitory concentrations (MIC) were obtained by a modified microdilution method based on the Clinical Laboratory Standards Institute reference document M27‐A3. The modifications allowed a good growth of all tested species. High in vitro antifungal activity of most tested drugs was observed, especially triazole derivatives, except for fluconazole which presented the highest MICs and widest range of concentrations. Ketoconazole and itraconazole demonstrated a great activity. Higher MICs values were obtained with Malassezia furfur indicating a low susceptibility to most of the antifungal agents tested. Malassezia sympodialis and Malassezia pachydermatis were found to be more‐susceptible species than M. furfur, Malassezia globosa, Malassezia slooffiae and Malassezia restricta. Topical substances were also active but provide higher MICs than the compounds for systemic use. The differences observed in the antifungals activity and interspecies variability demonstrated the importance to studying the susceptibility profile of each species to obtain reliable information for defining an effective treatment regimen.
Crohn's disease: small bowel motility impairment correlates with inflammatory‐related markers C‐reactive protein and calprotectin
Authors: Bickelhaupt S. , Pazahr S. , Chuck N. , Blume I. , Froehlich J. M. , Cattin R. , Raible S. , Bouquet H. , Bill U. , Rogler G. , Frei P. , Boss A. , Patak M. A 
Published: March 2013

AbstractBackgroundTo evaluate the correlation between the levels of C‐reactive protein (CRP), calprotectin, and small bowel motility in patients with Crohn's disease assessed with MRI.MethodsThis prospective institutional review board approved study included magnetic resonance imaging enterography (MRE) and analyses of inflammatory markers in blood (C‐reactive protein) and feces (calprotectin). For cine MRE, a coronal 2D‐T2w sequence was used on a 1.5 T MRI system. Small bowel motility was analyzed in 13 patients using dedicated magnetic resonance MR‐motility assessment software (Motasso). Contraction frequency, amplitude, amplitude diameter ratio, and luminal diameter were determined as well as the blood levels of CRP (mg L−1) and fecal levels of calprotectin (ug g−1). Statistics were calculated using Pearson's correlation coefficient.Key ResultsA significant inverse linear correlation was found between the contraction frequency and both the level of CRP (r = −0.701, P = 0.008) and calprotectin (r = −0.805, P = 0.001). Dilatation of small bowel diameter significantly correlated with calprotectin levels (r = 0.857, P =< 0.001) but not with CRP (r = 0.447, P = 0.126). The absolute amplitude of the contractions did not correlate neither with the level of CRP (r = −0.527, P = 0.064) nor with calprotectin (r = −0.612, P = 0.026). The ratio describing the contraction amplitude relatively to the individual luminal diameter significantly correlated with calprotectin (r = 0.736, P = 0.004) and with CRP (r = 0.577, P = 0.039).Conclusions & InferencesAlterations of small bowel motility during CD flares significantly correlate with the level of calprotectin and CRP indicating that they represent inflammatory activity.
3‐D imaging, illustration, and quantitation of enteric glial network in transparent human colon mucosa
Authors: Liu Y. A. , Chung Y. C. , Pan S. T. , Shen M. Y. , Hou Y. C. , Peng S. J. , Pasricha P. J. , Tang S. C. 
Published: March 2013

AbstractBackgroundEnteric glia form a network in the intestinal mucosa and have been suggested to engage in multidirectional interactions with the epithelium, blood vessels, nerves, and immune system. However, due to the dispersed nature of the glial network, standard histology cannot provide a global view of the network architecture. We prepared transparent human colon mucosa for three‐dimensional (3‐D) confocal microscopy with S100B immunostaining to reveal the location‐dependent glial network for qualitative and quantitative analyses.MethodsFull‐thickness human colons were acquired from colectomies performed for colorectal cancer. We targeted the mucosa away from the tumor site to characterize the glial network morphology. Optical clearing (use of immersion solution to reduce scattering) was applied to generate transparent specimens for deep‐tissue microscopy.Key ResultsTwo features of the glial network were seen: (i) A dense glial population resides at the crypt base/mucosal boundary in contact with the lymphatic vessels, and (ii) from the base, the glial network elongates along the crypt axis with peri‐cryptic and peri‐vascular connections toward the opening. We quantified the mucosal glia as the S100B‐positive cells with at least two processes extending from the cell body. Examples of the global and in‐depth imaging of adenoma were given to illustrate the morphological correlation between the loss of glial fibers and the aberrant crypts.Conclusions & InferencesWe have established a useful approach for 3‐D imaging, panoramic illustration, and quantitation of the enteric glia in the human colon mucosa to help characterize their roles with mucosal components in health and disease.
Spatial and temporal dynamics of the colonization ofPinus radiatabyFusarium circinatum, of conidiophora development in the pith and of traumatic resin duct formation
Authors: Martín‐Rodrigues Noemí , Espinel Santiago , Sanchez‐Zabala Joseba , Ortíz Amaia , González‐Murua Carmen , Duñabeitia Miren K. 
Published: March 2013

SummaryFusarium circinatumcauses pitch canker disease in a wide range of pine trees, includingPinus radiata, with devastating economic consequences.To assess the spatial and temporal dynamics of growth of this pathogen in radiata pine, we examined the process of infection using both real‐timePCRto quantify fungal biomass inside the plant host, and confocal microscopy using a green fluorescent protein (GFP)‐tagged strain ofF. circinatum.Pathogen growth exhibited three distinct phases: an initial exponential increase in fungal biomass, concomitant with pathogen colonization of the cortex and phloem; a slowdown in fungal growth coincident with sporulating hyphae deep within the host; and stabilization of the fungal biomass when the first wilting symptoms appeared. The number of resin ducts in the xylem was found to increase in response to infection and the fungus grew inside both constitutive and traumatic resin ducts.These results indicate that conidiation may contribute to the spatial or temporal dissemination of the pathogen. Moreover, the present findings raise the intriguing possibility that the generation of traumatic resin ducts may be of more benefit to the fungus than to the plant.