bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
Authors: González-Porras Jose , Jiménez Cristina , Benito Rocio , Ordoñez Gonzalo R. , Álvarez-Román Maria , Fontecha M. Elena , Janusz Kamila , Castillo David , Fisac Rosa , García-Frade Luis , Aguilar Carlos , Martínez Paz , Bermejo Nuria , Herrero Sonia , Balanzategui Ana , Martin-Antorán Jose , Ramos Rafael , Cebeiro Maria , Pardal Emilia , Aguilera Carmen , Pérez-Gutierrez Belen , Prieto Manuel , Riesco Susana , Mendoza Maria , Benito Ana , Benito-Sendin Ana , Jimenez-Yuste Victor , Hernández-Rivas Jesus , García-Sanz Ramon , González-Díaz Marcos , Sarasquete Maria , Bastida Jose 
Published: October 2016

SummaryCurrently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes. The proposed algorithm includes the detection of inversions of introns 1 and 22, an NGS custom panel (the entire F8, F9 and VWF genes), and multiplex ligation-dependent probe amplification (MLPA) analysis. A total of 102 samples (97 FVIII- and FIX-deficient patients, and five female carriers) were studied. IVS-22 screening identified 11 out of 20 severe HA patients and one female carrier. IVS-1 analysis did not reveal any alterations. The NGS approach gave positive results in 88 cases, allowing the differential diagnosis of mild/moderate HA and VWD in eight cases. MLPA confirmed one large exon deletion. Only one case did have no pathogenic variants. The proposed algorithm had an overall success rate of 99 %. In conclusion, our evaluation demonstrates that this algorithm can reliably identify pathogenic variants and diagnose patients with HA, HB or VWD.Supplementary Material to this article is available online at www.thrombosis-online.com.
The Influence of Fire-Induced Surface Changes on the Diurnal Temperature Changes over the Hayman Fire Scar
Authors: LeMone Margaret A. , Wan Bingcheng , Barlage Michael , Chen Fei 
Published: October 2016

AbstractDuring the 2010 Bio–Hydro–Atmosphere Interactions of Energy, Aerosols, Carbon, H2O, and Nitrogen (BEACHON) experiment in Colorado, nighttime temperatures over a site within the 2002 “Hayman” fire scar were considerably warmer than over the “Manitou” site that was located outside the fire scar. Temperature differences reached up to 7 K at the surface and extended to an average of 500 m AGL. Afternoon temperatures through the planetary boundary layer (PBL) were similar at the two locations. PBL growth during the day was more rapid at Manitou until 1300 local time, after which the two daytime PBLs had similar temperatures and depths. Observations were taken in fair weather, with weak winds. Runs of the Advanced Research version of the Weather Research and Forecasting model (ARW-WRF) coupled to the Noah-MP land surface model suggest that the fire-induced loss of surface and soil organic matter accounted for the 3–4-K warming at Hayman relative to its prefire state, more than compensating for the cooling due to the fire-induced change in vegetation from forest to grassland. Modeled surface fluxes and soil temperature and moisture changes were consistent with observational studies comparing several-year-old fire scars with adjacent unaffected forests. The remaining difference between the two sites is likely from cold-air pooling at Manitou. It was necessary to increase vertical resolution and replace terrain-following diffusion with horizontal diffusion in ARW-WRF to better capture nighttime near-surface temperature and winds. Daytime PBL growth and afternoon temperature profiles were reasonably reproduced by the basic run with postfire conditions. Winds above the surface were only fairly represented, and refinements made to capture cold pooling degraded daytime temperature profiles slightly.
Intercalibration of the GPM Microwave Radiometer Constellation
Authors: Berg Wesley , Bilanow Stephen , Chen Ruiyao , Datta Saswati , Draper David , Ebrahimi Hamideh , Farrar Spencer , Jones W. Linwood , Kroodsma Rachael , McKague Darren , Payne Vivienne , Wang James , Wilheit Thomas , Yang John Xun 
Published: October 2016

AbstractThe Global Precipitation Measurement (GPM) mission is a constellation-based satellite mission designed to unify and advance precipitation measurements using both research and operational microwave sensors. This requires consistency in the input brightness temperatures (Tb), which is accomplished by intercalibrating the constellation radiometers using the GPM Microwave Imager (GMI) as the calibration reference. The first step in intercalibrating the sensors involves prescreening the sensor Tb to identify and correct for calibration biases across the scan or along the orbit path. Next, multiple techniques developed by teams within the GPM Intersatellite Calibration Working Group (XCAL) are used to adjust the calibrations of the constellation radiometers to be consistent with GMI. Comparing results from multiple approaches helps identify flaws or limitations of a given technique, increase confidence in the results, and provide a measure of the residual uncertainty. The original calibration differences relative to GMI are generally within 2–3 K for channels below 92 GHz, although AMSR2 exhibits larger differences that vary with scene temperature. SSMIS calibration differences also vary with scene temperature but to a lesser degree. For SSMIS channels above 150 GHz, the differences are generally within ~2 K with the exception of SSMIS on board DMSP F19, which ranges from 7 to 11 K colder than GMI depending on frequency. The calibrations of the cross-track radiometers agree very well with GMI with values mostly within 0.5 K for the Sondeur Atmosphérique du Profil d’Humidité Intertropicale par Radiométrie (SAPHIR) and the Microwave Humidity Sounder (MHS) sensors, and within 1 K for the Advanced Technology Microwave Sounder (ATMS).
A Comparison of Perturbations from an Ensemble Transform and an Ensemble Kalman Filter for the NCEP Global Ensemble Forecast System
Authors: Zhou Xiaqiong , Zhu Yuejian , Hou Dingchen , Kleist Daryl 
Published: October 2016

Abstract
Two perturbation generation schemes, the ensemble transformation with rescaling (ETR) and the ensemble Kalman filter (EnKF), are compared for the NCEP operational environment for the Global Ensemble Forecast System (GEFS). Experiments that utilize each of the two schemes are carried out and evaluated for two boreal summer seasons. It is found that these two schemes generally have comparable performance. Experiments utilizing both perturbation methods fail to generate sufficient spread at medium-range lead times beyond day 8. In general, the EnKF-based experiment outperforms the ETR in terms of the continuous ranked probability skill score (CRPSS) in the Northern Hemisphere (NH) for the first week. In the SH, the ensemble mean forecast is more skillful from the ETR perturbations. Additional experiments are performed with the stochastic total tendency perturbation (STTP) scheme, in which the total tendencies of all model variables are perturbed to represent the uncertainty in the forecast model. An improved spread–error relationship is found for the ETR-based experiments, but the STTP increases the ensemble spread for the EnKF-based experiment that is already overdispersive at early lead times, especially in the SH. With STTP employed, an increase in the EnKF-based CRPSS in the NH is reduced with a larger degradation in both the probability and ensemble-mean forecast skills in the SH. The results indicate that a rescaling of the EnKF initial perturbations and/or tuning of the STTP scheme is required when STTP is applied using the EnKF-based perturbations. This study provided guidance for the replacement of ETR with EnKF perturbations as part of the 2015 GEFS implementation.
Structural neuroimaging across early-stage psychosis: Aberrations in neurobiological trajectories and implications for the staging model
Authors: Bartholomeusz Cali F , Cropley Vanessa L , Wannan Cassandra , Di Biase Maria , McGorry Patrick D , Pantelis Christos 
Published: October 2016

Objective: This review critically examines the structural neuroimaging evidence in psychotic illness, with a focus on longitudinal imaging across the first-episode psychosis and ultra-high-risk of psychosis illness stages. Methods: A thorough search of the literature involving specifically longitudinal neuroimaging in early illness stages of psychosis was conducted. The evidence supporting abnormalities in brain morphology and altered neurodevelopmental trajectories is discussed in the context of a clinical staging model. Results: In general, grey matter (and, to a lesser extent, white matter) declines across multiple frontal, temporal (especially superior regions), insular and parietal regions during the first episode of psychosis, which has a steeper trajectory than that of age-matched healthy counterparts. Although the ultra-high-risk of psychosis literature is considerably mixed, evidence indicates that certain volumetric structural aberrations predate psychotic illness onset (e.g. prefrontal cortex thinning), while other abnormalities present in ultra-high-risk of psychosis populations are potentially non-psychosis-specific (e.g. hippocampal volume reductions). Conclusion: We highlight the advantages of longitudinal designs, discuss the implications such studies have on clinical staging and provide directions for future research.
The Impact of Mean Arterial Pressure on Functional Outcome Post Trauma-Related Acute Spinal Cord Injury: A Scoping Systematic Review of the Human Literature
Authors: Sabit Behzad , Zeiler Frederick Adam , Berrington Neil 
Published: October 2016

Purpose: To perform a scoping systematic review on the literature surrounding mean arterial pressure (MAP) and functional outcomes post traumatic acute spinal cord injury (ASCI). Methods: We performed a systematic review of the literature via searching MEDLINE, BIOSIS, EMBASE, Global Health, SCOPUS, and Cochrane Library from inception to January 2015. We also performed a handsearch of various published meeting proceedings. Through a 2-step review process, employing 2 independent reviewers, we selected articles for the final review based on predefined inclusion/exclusion criteria. Results: Nine studies were included in the final review. Only 2 were prospective studies. All studies documented some degree of objective functional outcome in relation to MAP posttraumatic ASCI. Four studies documented a relation between higher MAP and improved functional outcome. Five studies failed to show any relationship between MAP and functional outcome. Conclusions: Although no definitive conclusions could be reached based on the data collected, this study does give valuable insight into future avenues of research on the topic of hemodynamic management in traumatic ASCI as well as provides guidelines for refinement of future study design.
Is telemonitoring useful for supporting persons with consciousness disorders and caregivers? A preliminary observational study in a real-life population
Authors: Zucchella Chiara , Di Santis Massimo , Ciccone Biagio , Pelella Massimiliano , Scappaticci Marina , Badalassi Giovanna , Lavezzi Susanna , Bartolo Michelangelo 
Published: October 2016

Introduction Preliminary evidences showed that telemedicine may allow a reduction of costs and an enhancement of patients’ satisfaction and quality of life (QoL), with the same effectiveness of conventional methods of healthcare delivery. Literature is quite absent in relation to the use of telemedicine for patients with disorders of consciousness (DoC) whose management is delegated almost entirely to the family. In order to promote an alternative setting to manage persons affected by DoC, also supporting their families, a pilot project was designed to test the feasibility of home-care assistance based on a system of telemonitoring. Methods In total, 11 patients were supported by a telemonitoring system via a workstation installed at the patients’ homes. All patients underwent a clinical and functional evaluation at enrolment, after two months, after six months and at the end of the project, after 12 months by means of clinical scales (Glasgow Coma Scale, Rancho Los Amigos Levels of Cognitive Functioning Scale, Glasgow Outcome Scale, Disability Rating Scale), while the World Health Organization (WHO) QoL, the Hamilton Depression Rating Scale, the Hamilton Anxiety Rating Scale and a satisfaction score were completed by caregivers. Results Patients’ scores at the clinical scales did not show statistically significant differences from T0 to T3. A trend toward the improvement of caregivers’ QoL, anxiety and depression, as well as a high degree of satisfaction with regard to the intervention, were reported. The economic evaluation showed an average cost/day for a patient of about €70. Discussion Preliminary data suggest that the use of telemonitoring services in the management of persons affected by DoC is feasible and well accepted by caregivers, with a potential positive effect on their mood and QoL. Therefore, telemonitoring should be considered in the management of DoC patients to favour discharge from acute care and to support families in home care.
A valuable approach to the use of electronic medical data in primary care research: Panning for gold
Authors: Barnett Stephen , Henderson Joan , Hodgkins Adam , Harrison Christopher , Ghosh Abhijeet , Dijkmans-Hadley Bridget , Britt Helena , Bonney Andrew 
Published: October 2016

Background: Electronic medical data (EMD) from electronic health records of general practice computer systems have enormous research potential, yet many variables are unreliable. Objective: The aim of this study was to compare selected data variables from general practice EMD with a reliable, representative national dataset (Bettering the Evaluation and Care of Health (BEACH)) in order to validate their use for primary care research. Method: EMD variables were compared with encounter data from the nationally representative BEACH program using χ2 tests and robust 95% confidence intervals to test their validity (measure what they reportedly measure). The variables focused on for this study were patient age, sex, smoking status and medications prescribed at the visit. Results: The EMD sample from six general practices in the Illawarra region of New South Wales, Australia, yielded data on 196,515 patient encounters. Details of 90,553 encounters were recorded in the 2013 BEACH dataset from 924 general practitioners. No significant differences in patient age ( p = 0.36) or sex ( p = 0.39) were found. EMD had a lower rate of current smokers and higher average scripts per visit, but similar prescribing distribution patterns. Conclusion: Validating EMD variables offers avenues for improving primary care delivery and measuring outcomes of care to inform clinical practice and health policy.
Coming Full Cycle
Authors: Fay Lindsey , Carll-White Allison , Harrell James 
Published: October 2016

Purpose: This article illustrates a collaborative, full cycle diagnostic postoccupancy evaluation (POE) conducted in an emergency department (ED) to demonstrate methods of planning a POE, conducting research to capture meaningful data, and applying outcomes through the use of a design charrette. Background: POEs often end with the reporting of findings rather than suggesting how this knowledge feeds forward. A design charrette presents an opportunity to engage with POE evidence and integrate research into practice. Methods: Planning for the POE resulted in a multiphased, multimethodological study. Data collection and analysis utilized objective and subjective measures yielding both qualitative and quantitative data. The design charrette then served as an interactive method to assist design practitioners in both understanding and applying the research findings in the redesign of the entry/triage sequence of the ED. Results: POE findings revealed four key issues impacting the ED experience. These include workflow, communication, privacy and confidentiality, and safety and security. In analyzing the use of the charrette to link POE findings to design application, it was determined that the charrette should include an all-inclusive, collaborative process, easily interpreted evidence, active participant engagement, and feasible outcomes grounded in research. Conclusion: Taking the POE process full cycle is a critical component in bridging the gap between research and its application to design. The charrette process offers a positive mark of completion to the POE and helps participants gain sensitivity to the importance of evidence-based decision-making.
A late presentation of pulmonary valve endocarditis following closure of patent ductus arteriosus in the childhood: A case report
Authors: Trehan Rajeev , Trehan Meena , Eshwarapragada Sharada Venkata 
Published: October 2016

Background: Infective endocarditis is a microbial infection of the endothelial surface of heart and great vessels frequently involving Mitral and Aortic valve. Pulmonary valve endocarditis leading to Severe Pulmonary Regurgitation is extremely rare and is often diagnosed late due to non specificity of symptoms. We intend to report such a case to bring the attention of everyone the long term consequences of Pulmonary Regurgitation. Here we also describe method of replacing Pulmonary valve with Bioprosthetic Aortic valve. Methods: We describe the technique of replacement of pulmonary valve with Bioprosthetic Aortic valve in case of severe Pulmonary regurgitation. Result: The patient successfully underwent replacement of both Pulmonary and Tricuspid valve with bioprosthetic valve and was discharged from the hospital on seventh post operative day. During successive follow up there was considerable improvement in exercise tolerance and she being presently in NYHA class II. Conclusion: Pulmonary valve replacement with bioprosthetic tissue valve should be considered for patients with Pulmonary regurgitation and volume overload of Right ventricle. Emphasis should be on Right ventricle dilatation before setting of RV dysfunction rather then severity of Pulmonary regurgitation alone.
Clot length predicts recanalisation but not outcome after basilar artery occlusion
Authors: van der Hoeven Erik JRJ , Algra Ale , Vos Jan Albert , Mattle Heinrich P , Weimar Christian , Schonewille Wouter J , Kappelle Jaap ,   on behalf of the BASICS registry investigators
Published: October 2016

Introduction The aim of our study was to evaluate the effect of clot length on both recanalisation and outcome in acute basilar artery occlusion (BAO). Patients and methods One hundred forty-nine patients with an acute basilar artery occlusion from the Basilar Artery International Cooperation Study (BASICS) were included. Clot length was assessed on computed tomographic angiography. Thrombus length was divided in tertiles and was related to recanalisation and outcome at 1 month, with Poisson regression. Modified Rankin scale scores of 4 or 5, or death were considered poor outcomes. Additionally, clot length was analysed as a continuous variable. Results Forty-nine patients (33%) had a short (4–11 mm), 50 (34%) an intermediate (12–22 mm), and 50 (34%) a long clot (≥23 mm). Multivariable analyses showed a significantly lower probability of recanalisation but no statistically significant difference in poor outcome for patients with a long clot compared with patients with a short clot (RR 0.64, 95% CI: 0.42–0.98 and RR 1.10, 95% CI: 0.88–1.37, respectively). No statistically significant differences were found for patients with an intermediate clot length compared with patients with a short clot length (RR 0.97, 95% CI: 0.75–1.25 and RR 1.11, 95% CI: 0.88–1.40, respectively). Analyses of clot length as a continuous variable showed a 10% reduction in chance of recanalisation and a 2% increase in risk of poor outcome with every centimeter increase in clot length (RR 0.90, 95% CI: 0.78–1.04 and RR 1.02, 95% CI: 0.98–1.05, respectively). Conclusions Clot length predicted recanalisation but not outcome at 1 month in patients with a BAO. We found 2% more poor outcome and 10% less recanalisation with every centimeter increase in clot length.
A role for autophagy in carotid atherosclerosis
Authors: Alloza Iraide , Goikuria Haize , Freijo María del Mar , Vandenbroeck Koen 
Published: October 2016

Purpose Autophagy has emerged in recent years as a critical cellular survival mechanism for cell homeostasis and may play a protective role in atherosclerosis. We aimed to review here the role autophagy plays in different cell types present in carotid atherosclerotic plaques and that may be associated with the development of unstable carotid atheroma plaque. Methods We performed a thorough literature exploration in this area of research covering the three main cell types present in carotid atheroma plaques. Findings Reviewed reports indicate that the role of autophagy in stable or unstable carotid atherosclerotic plaques depends on the different cell types and phenotypes, the stage and morphology of the plaque and the specific autophagy factor/s involved. Discussion Although defective autophagy could be one of the causes for carotid atheroma plaques to become unstable, it is important to take into account that autophagic players can act differentially in different cell types and different stages of the developed plaque. Conclusion This review provides an overview of the role of autophagy in the main cell types in carotid atherosclerosis (i.e. macrophages, endothelial cells and smooth muscle cells).
Draft genome sequence of the marine Rhodobacteraceae strain O3.65, cultivated from oil-polluted seawater of the Deepwater Horizon oil spill
Authors: Giebel Helge-Ansgar , Klotz Franziska , Voget Sonja , Poehlein Anja , Grosser Katrin , Teske Andreas , Brinkhoff Thorsten 
Published: October 2016

AbstractThe marine alphaproteobacterium strain O3.65 was isolated from an enrichment culture of surface seawater contaminated with weathered oil (slicks) from the Deepwater Horizon (DWH) oil spill and belongs to the ubiquitous, diverse and ecological relevant Roseobacter group within the Rhodobacteraceae. Here, we present a preliminary set of physiological features of strain O3.65 and a description and annotation of its draft genome sequence. Based on our data we suggest potential ecological roles of the isolate in the degradation of crude oil within the network of the oil-enriched microbial community. The draft genome comprises 4,852,484 bp with 4,591 protein-coding genes and 63 RNA genes. Strain O3.65 utilizes pentoses, hexoses, disaccharides and amino acids as carbon and energy source and is able to grow on several hydroxylated and substituted aromatic compounds. Based on 16S rRNA gene comparison the closest described and validated strain is Phaeobacter inhibens DSM 17395, however, strain O3.65 is lacking several phenotypic and genomic characteristics specific for the genus Phaeobacter. Phylogenomic analyses based on the whole genome support extensive genetic exchange of strain O3.65 with members of the genus Ruegeria, potentially by using the secretion system type IV. Our physiological observations are consistent with the genomic and phylogenomic analyses and support that strain O3.65 is a novel species of a new genus within the Rhodobacteraceae.