bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data
Authors: Carlson Courtney R. , Moore Steven A. , Mathews Katherine D. 
Published: January 2018

ABSTRACTIntroduction: Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in the dystrophin gene (DMD) and is often the preferred diagnostic approach. Methods: We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopathy based on dystrophic histopathology and abnormal immunofluorescence staining: reduced to absent dystrophin, expression of utrophin, and loss of neuronal nitric oxide synthase. Results: The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Among 2,298 biopsies evaluated between 2011 and 2016, 72 (3.1%) had pathologic features of dystrophinopathy. Median age at biopsy was 8 years (range, 0.66–84). Half had undergone DMD genetic testing prior to biopsy. Clinical phenotypes recorded on requisitions were typical of muscular dystrophy for 57 (79%) biopsies. Discussion: Muscle biopsy continues to play an important role in the diagnosis of dystrophinopathy, particularly in patients with later symptom onset, comorbidities, or normal DMD genetic testing results. Muscle Nerve 58: 148–152, 2018
Consensus definition and essential reporting parameters of selective fetal growth restriction in twin pregnancy: a Delphi procedure
Authors: Khalil A. , Beune I. , Hecher K. , Wynia K. , Ganzevoort W. , Reed K. , Lewi L. , Oepkes D. , Gratacos E. , Thilaganathan B. , Gordijn S. J. 
Published: January 2018

ABSTRACTObjectivesTwin pregnancy complicated by selective fetal growth restriction (sFGR) is associated with increased perinatal mortality and morbidity. Inconsistencies in the diagnostic criteria for sFGR employed in existing studies hinder the ability to compare or combine their findings. It is therefore challenging to establish robust evidence‐based management or monitoring pathways for these pregnancies. The main aim of this study was to determine, by expert consensus using a Delphi procedure, the key diagnostic features of and the essential reporting parameters in sFGR.MethodsA Delphi process was conducted among an international panel of experts in sFGR in twin pregnancy. Panel members were provided with a list of literature‐based parameters for diagnosing sFGR and were asked to rate their importance on a five‐point Likert scale. Parameters were described as solitary (sufficient to diagnose sFGR, even if all other parameters are normal) or contributory (those that require other abnormal parameter(s) to be present for the diagnosis of sFGR). Consensus was sought to determine the cut‐off values for accepted parameters, as well as parameters used in the monitoring, management and assessment of outcome of twin pregnancy complicated by sFGR. The questions were presented in two separate categories according to chorionicity.ResultsA total of 72 experts were approached, of whom 60 agreed to participate and entered the first round; 48 (80%) completed all four rounds. For the definition of sFGR irrespective of chorionicity, one solitary parameter (estimated fetal weight (EFW) of one twin < 3rd centile) was agreed. For monochorionic twin pregnancy, at least two out of four contributory parameters (EFW of one twin < 10th centile, abdominal circumference of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed. For sFGR in dichorionic twin pregnancy, at least two out of three contributory parameters (EFW of one twin < 10th centile, EFW discordance of ≥ 25%, and umbilical artery pulsatility index of the smaller twin > 95th centile) were agreed.ConclusionsConsensus‐based diagnostic features of sFGR in both monochorionic and dichorionic twin pregnancies, as well as cut‐off values for the parameters involved, were agreed upon by a panel of experts. Future studies are needed to validate these diagnostic features before they can be used in clinical trials of interventions. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
Advancing biotechnology with CRISPR/Cas9: recent applications and patent landscape
Authors: Ferreira Raphael , David Florian , Nielsen Jens 
Published: January 2018

Abstract
Clustered regularly interspaced short palindromic repeats (CRISPR) is poised to become one of the key scientific discoveries of the twenty-first century. Originating from prokaryotic and archaeal immune systems to counter phage invasions, CRISPR-based applications have been tailored for manipulating a broad range of living organisms. From the different elucidated types of CRISPR mechanisms, the type II system adapted from Streptococcus pyogenes has been the most exploited as a tool for genome engineering and gene regulation. In this review, we describe the different applications of CRISPR/Cas9 technology in the industrial biotechnology field. Next, we detail the current status of the patent landscape, highlighting its exploitation through different companies, and conclude with future perspectives of this technology.
Microstructure and mechanical properties of high-strength steel welding consumables with a minimum yield strength of 1100 MPa
Authors: Haslberger Phillip , Holly Sylvia , Ernst Wolfgang , Schnitzer Ronald 
Published: January 2018

AbstractWelded high-strength steel components have great potential for use in lightweight constructions or highly loaded structures. Welding of steels with a yield strength of more than 1100 MPa is particularly challenging because of the toughness requirements for the weld metal. Currently, a new generation of welding consumables with a minimum yield strength of 1100 MPa has been developed. Based on electron backscatter diffraction and atom probe tomography, a concept for toughening and strengthening of all-weld metal samples was deployed. Starting from a martensitic all-weld metal sample with an approximate yield strength of 1000 MPa, a reduction in manganese and silicon content resulted in a refined microstructure with a lower prior austenite grain size and effective grain size. Furthermore, a higher average grain boundary misorientation was measured, which influences the toughness positively. An addition of vanadium caused the formation of vanadium-rich clusters, which increased the strength of the all-weld metal significantly. With a combination of these two mechanisms, it was possible to produce an all-weld metal sample with the required yield strength of more than 1100 MPa and an acceptable toughness.
Dynamic capabilities as (workable) management systems theory
Authors: Teece David J 
Published: January 2018

AbstractIn management studies, systems theory is an underexplored construct consistent with the dynamic capabilities framework. The systems approach received attention from management scholars in the middle of the last century, but, since then, has been largely abandoned. Meanwhile, academic disciplines have continued to narrow their focus. The capabilities and systems frameworks both adopt a holistic view that calls for all elements of an organization to be in alignment, and both recognize the importance of some form of learning for the purpose of adaptation. Dynamic capabilities go further by recognizing that organizations not only adapt to the business environment, they often try to shape it, too. While systems theory emphasizes internal stability over time and homogeneity across similar systems, dynamic capabilities include an explicit role for management/leadership that allows systemic change to start from within, which is the source of heterogeneity across firms. Dynamic capabilities are part of a system that includes resources and strategy. Together they determine the degree of competitive advantage an individual enterprise can gain over its rivals.
Revolutionary Syndicalism and Reformism in Rio de Janeiro’s Labour Movement (1906–1920)
Authors: Batalha Claudio 
Published: January 2018

AbstractDivided between revolutionary syndicalism and reformist unions, Rio de Janeiro’s labour movement represented one of the most complex local cases during the Brazilian First Republic. This article intends to show how relations between these two currents were far from clear cut, and that, despite the confrontational discourse they adopted and the disputes over labour unions they were involved in, they eventually shared common practices and, to some degree, a common culture.
Gorham–Stout disease of the temporal bone involving the temporomandibular joint
Authors: Mulvihill D , Kumar R S , Muzaffar J , Irving R 
Published: January 2018

AbstractBackground:Gorham–Stout disease of the skull is a very rare entity. It presents with gradual bone resorption, and proliferation of lymphoid and vascular channels within the bony matrix. This is often a diagnosis of exclusion confirmed with serial imaging and based on radiological evidence.Case report:A case of Gorham–Stout disease of the temporal bone involving the temporomandibular joint, and presenting with sensorineural hearing loss and recurrent temporomandibular joint dislocation, is reported. The findings are presented and the literature on this condition is reviewed.Conclusion:ENT and maxillofacial surgeons should be aware of this extremely rare cause of temporomandibular joint dislocation and ear symptoms. Imaging comprising computed tomography and magnetic resonance imaging is crucial to achieving a diagnosis, which may only become evident after repeated imaging follow up. Symptomatic treatment is advised, with the option of anti-osteoclastic medication and radiotherapy indicated for advanced cases. Surgery is only recommended for complications including involvement of neurovascular structures.
On redundancy resolution and energy consumption of kinematically redundant planar parallel manipulators
Authors: Ruiz Andrés Gómez , Santos João Cavalcanti , Croes Jan , Desmet Wim , da Silva Maíra Martins 
Published: January 2018

SUMMARYNovel kinematic architectures can be alternatives for designing energy efficient robotic systems. In this work, the impact of kinematic redundancies in the energy consumption of a planar PKM, the 3PRRR manipulator, is experimentally verified. Because of the presence of the kinematic redundancies, the inverse kinematic problem presents infinity solutions. In this way, a redundancy resolution scheme based on the Model Predictive Control technique is proposed and exploited. It can be concluded that the energy consumption of the non-redundant parallel manipulator 3RRR for executing predefined tasks can be considerably reduced by the inclusion of kinematic redundancies.
Stakeholder perceptions of a school food policy ten years on
Authors: Pettigrew Simone , Talati Zenobia , Sauzier Megan , Ferguson Amanda 
Published: January 2018

AbstractObjectiveTo assess (i) the extent to which stakeholders have accepted and implemented a Healthy Food and Drink Policy for schools a decade after its introduction and (ii) any resulting implications for canteen profitability.DesignOnline survey distributed via electronic newsletter to school principals.SettingWestern Australian public schools.SubjectsPrincipals, teachers, canteen managers, and parents and citizens committee presidents (n307).ResultsLarge majorities of respondents reported that the policy has made the foods and drinks provided in schools healthier (85 %) and that the policy constitutes a good opportunity to teach children about healthy eating (90 %). Only small proportions of respondents felt it had been difficult to implement the policy in their schools (13 %) or that the policy fails to accommodate parents’ rights to choose the foods consumed by their children (16 %). Most of the policy outcomes assessed in both the initial post-implementation evaluation (2008) and the 10-year follow-up evaluation (2016) demonstrated significant improvement over time.ConclusionsThe study results indicate that comprehensive school food policies can favourably influence the foods and drinks provided on school premises and can be highly acceptable to key stakeholders, without adversely affecting profitability. The results are encouraging for policy makers in other jurisdictions considering the implementation of similar policies.
Determinants of in-court settlements: empirical evidence from a German trial court
Authors: BERLEMANN MICHAEL , CHRISTMANN ROBIN 
Published: January 2018

AbstractBecause verdicts are typically the more costly resolution of legal disputes, most governments are interested in high settlement rates. In this paper, we use a unique dataset of 860 case records from a German trial court to explore which institutional factors have a significant impact on the decision to settle in civil law litigation. We find that procedural aspects and individual characteristics of the involved judge have a significant impact on in-court settlement probability. We also find that judge-specific aspects such as the judge's gender may have an impact on settlement probabilities in certain subfields of law. Based on our empirical results, we derive some conclusions for legal policies that aim at increasing settlement rates.
Cardiogenic programming of human pluripotent stem cells by dose-controlled activation of EOMES
Authors: Pfeiffer Martin J. , Quaranta Roberto , Piccini Ilaria , Fell Jakob , Rao Jyoti , Röpke Albrecht , Seebohm Guiscard , Greber Boris 
Published: January 2018

AbstractMaster cell fate determinants are thought to induce specific cell lineages in gastrulation by orchestrating entire gene programs. The T-box transcription factor EOMES (eomesodermin) is crucially required for the development of the heart—yet it is equally important for endoderm specification suggesting that it may act in a context-dependent manner. Here, we define an unrecognized interplay between EOMES and the WNT signaling pathway in controlling cardiac induction by using loss and gain-of-function approaches in human embryonic stem cells. Dose-dependent EOMES induction alone can fully replace a cocktail of signaling molecules otherwise essential for the specification of cardiogenic mesoderm. Highly efficient cardiomyocyte programming by EOMES mechanistically involves autocrine activation of canonical WNT signaling via the WNT3 ligand, which necessitates a shutdown of this axis at a subsequent stage. Our findings provide insights into human germ layer induction and bear biotechnological potential for the robust production of cardiomyocytes from engineered stem cells.
Structure of tick-borne encephalitis virus and its neutralization by a monoclonal antibody
Authors: Füzik Tibor , Formanová Petra , Růžek Daniel , Yoshii Kentaro , Niedrig Matthias , Plevka Pavel 
Published: January 2018

AbstractTick-borne encephalitis virus (TBEV) causes 13,000 cases of human meningitis and encephalitis annually. However, the structure of the TBEV virion and its interactions with antibodies are unknown. Here, we present cryo-EM structures of the native TBEV virion and its complex with Fab fragments of neutralizing antibody 19/1786. Flavivirus genome delivery depends on membrane fusion that is triggered at low pH. The virion structure indicates that the repulsive interactions of histidine side chains, which become protonated at low pH, may contribute to the disruption of heterotetramers of the TBEV envelope and membrane proteins and induce detachment of the envelope protein ectodomains from the virus membrane. The Fab fragments bind to 120 out of the 180 envelope glycoproteins of the TBEV virion. Unlike most of the previously studied flavivirus-neutralizing antibodies, the Fab fragments do not lock the E-proteins in the native-like arrangement, but interfere with the process of virus-induced membrane fusion.
Visualization of human karyopherin beta-1/importin beta-1 interactions with protein partners in mitotic cells by co-immunoprecipitation and proximity ligation assays
Authors: Di Francesco Laura , Verrico Annalisa , Asteriti Italia Anna , Rovella Paola , Cirigliano Pietro , Guarguaglini Giulia , Schininà Maria Eugenia , Lavia Patrizia 
Published: January 2018

AbstractKaryopherin beta-1/Importin beta-1 is a conserved nuclear transport receptor, acting in protein nuclear import in interphase and as a global regulator of mitosis. These pleiotropic functions reflect its ability to interact with, and regulate, different pathways during the cell cycle, operating as a major effector of the GTPase RAN. Importin beta-1 is overexpressed in cancers characterized by high genetic instability, an observation that highlights the importance of identifying its partners in mitosis. Here we present the first comprehensive profile of importin beta-1 interactors from human mitotic cells. By combining co-immunoprecipitation and proteome-wide mass spectrometry analysis of synchronized cell extracts, we identified expected (e.g., RAN and SUMO pathway factors) and novel mitotic interactors of importin beta-1, many with RNA-binding ability, that had not been previously associated with importin beta-1. These data complement interactomic studies of interphase transport pathways. We further developed automated proximity ligation assay (PLA) protocols to validate selected interactors. We succeeded in obtaining spatial and temporal resolution of genuine importin beta-1 interactions, which were visualized and localized in situ in intact mitotic cells. Further developments of PLA protocols will be helpful to dissect importin beta-1-orchestrated pathways during mitosis.
Modulation of Neurally Mediated Vasodepression and Bradycardia by Electroacupuncture through Opioids in Nucleus Tractus Solitarius
Authors: Tjen-A-Looi Stephanie C. , Fu Liang-Wu , Guo Zhi-Ling , Longhurst John C. 
Published: January 2018

AbstractStimulation of vagal afferent endings with intravenous phenylbiguanide (PBG) causes both bradycardia and vasodepression, simulating neurally mediated syncope. Activation of µ-opioid receptors in the nucleus tractus solitarius (NTS) increases blood pressure. Electroacupuncture (EA) stimulation of somatosensory nerves underneath acupoints P5–6, ST36–37, LI6–7 or G37–39 selectively but differentially modulates sympathoexcitatory responses. We therefore hypothesized that EA-stimulation at P5–6 or ST36–37, but not LI6–7 or G37–39 acupoints, inhibits the bradycardia and vasodepression through a µ-opioid receptor mechanism in the NTS. We observed that stimulation at acupoints P5–6 and ST36–37 overlying the deep somatosensory nerves and LI6–7 and G37–39 overlying cutaneous nerves differentially evoked NTS neural activity in anesthetized and ventilated animals. Thirty-min of EA-stimulation at P5–6 or ST36–37 reduced the depressor and bradycardia responses to PBG while EA at LI6–7 or G37–39 did not. Congruent with the hemodynamic responses, EA at P5–6 and ST36–37, but not at LI6–7 and G37–39, reduced vagally evoked activity of cardiovascular NTS cells. Finally, opioid receptor blockade in the NTS with naloxone or a specific μ-receptor antagonist reversed P5–6 EA-inhibition of the depressor, bradycardia and vagally evoked NTS activity. These data suggest that point specific EA stimulation inhibits PBG-induced vasodepression and bradycardia responses through a μ-opioid mechanism in the NTS.
Deciphering microvascular changes after myocardial infarction through 3D fully automated image analysis
Authors: Gkontra Polyxeni , Norton Kerri-Ann , Żak Magdalena M. , Clemente Cristina , Agüero Jaume , Ibáñez Borja , Santos Andrés , Popel Aleksander S. , Arroyo Alicia G. 
Published: January 2018

AbstractThe microvasculature continuously adapts in response to pathophysiological conditions to meet tissue demands. Quantitative assessment of the dynamic changes in the coronary microvasculature is therefore crucial in enhancing our knowledge regarding the impact of cardiovascular diseases in tissue perfusion and in developing efficient angiotherapies. Using confocal microscopy and thick tissue sections, we developed a 3D fully automated pipeline that allows to precisely reconstruct the microvasculature and to extract parameters that quantify all its major features, its relation to smooth muscle actin positive cells and capillary diffusion regions. The novel pipeline was applied in the analysis of the coronary microvasculature from healthy tissue and tissue at various stages after myocardial infarction (MI) in the pig model, whose coronary vasculature closely resembles that of human tissue. We unravelled alterations in the microvasculature, particularly structural changes and angioadaptation in the aftermath of MI. In addition, we evaluated the extracted knowledge’s potential for the prediction of pathophysiological conditions in tissue, using different classification schemes. The high accuracy achieved in this respect, demonstrates the ability of our approach not only to quantify and identify pathology-related changes of microvascular beds, but also to predict complex and dynamic microvascular patterns.
Error-Gated Hebbian Rule: A Local Learning Rule for Principal and Independent Component Analysis
Authors: Isomura Takuya , Toyoizumi Taro 
Published: January 2018

AbstractWe developed a biologically plausible unsupervised learning algorithm, error-gated Hebbian rule (EGHR)-β, that performs principal component analysis (PCA) and independent component analysis (ICA) in a single-layer feedforward neural network. If parameter β = 1, it can extract the subspace that major principal components span similarly to Oja’s subspace rule for PCA. If β = 0, it can separate independent sources similarly to Bell-Sejnowski’s ICA rule but without requiring the same number of input and output neurons. Unlike these engineering rules, the EGHR-β can be easily implemented in a biological or neuromorphic circuit because it only uses local information available at each synapse. We analytically and numerically demonstrate the reliability of the EGHR-β in extracting and separating major sources given high-dimensional input. By adjusting β, the EGHR-β can extract sources that are missed by the conventional engineering approach that first applies PCA and then ICA. Namely, the proposed rule can successfully extract hidden natural images even in the presence of dominant or non-Gaussian noise components. The results highlight the reliability and utility of the EGHR-β for large-scale parallel computation of PCA and ICA and its future implementation in a neuromorphic hardware.
Sub-parts-per-trillion level sensitivity in trace gas detection by cantilever-enhanced photo-acoustic spectroscopy
Authors: Tomberg Teemu , Vainio Markku , Hieta Tuomas , Halonen Lauri 
Published: January 2018

AbstractAn exceptional property of photo-acoustic spectroscopy is the zero-background in wavelength modulation configuration while the signal varies linearly as a function of absorbed laser power. Here, we make use of this property by combining a highly sensitive cantilever-enhanced photo-acoustic detector, a particularly stable high-power narrow-linewidth mid-infrared continuous-wave optical parametric oscillator, and a strong absorption cross-section of hydrogen fluoride to demonstrate the ability of cantilever-enhanced photo-acoustic spectroscopy to reach sub-parts-per-trillion level sensitivity in trace gas detection. The high stability of the experimental setup allows long averaging times. A noise equivalent concentration of 650 parts-per-quadrillion is reached in 32 minutes.