julilili42/papers huggingface dataset:
ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice
2014-06-03

The emergence of effective cell-free fetal DNA-based techniques to screen for trisomy 21 and other aneuploidies has greatly expanded the range of prenatal tests available over the last few years. Non-invasive prenatal testing (NIPT) is rapidly being incorporated into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although NIPT techniques are highly efficient, their role and performance must be considered alongside and combined with other screening modalities. The role of prenatal ultrasound in particular needs to be reassessed as NIPT becomes more widely available. It is important to emphasize that the main goal of prenatal screening is to provide accurate information that will facilitate the delivery of optimized antenatal care, with the best possible outcome for both mother and fetus. Women should be informed about prenatal screening performance by appropriately trained health professionals, allowing them to make an informed decision. It is the parent's choice to undergo such procedures, and their wishes should be determined and respected. Screening strategies based on individual risk calculated from maternal age and nuchal translucency measurement and/or maternal serum markers and/or other ultrasound markers in the first trimester (defined by the conventional crown–rump length range of 45–84 mm). At the moment, ISUOG endorses this strategy. Following such screening, women can be offered a choice, according to their calculated individual risk, of having no further testing, undergoing NIPT, or undergoing invasive testing. Cut-offs should be defined on a local/national basis and will be affected by public health priorities and available resources. Invasive testing based on background risk (including, for example, maternal age and history of aneuploidy), with no other individual risk calculation. NIPT as a first-line screening test. Most current guidelines endorse NIPT only for high-risk populations for which adequate data exist. Using NIPT on intermediate- or low-risk patients might be endorsed as a widely available option only when new data emerge and NIPT costs decrease.
The significance of GBA for Parkinson's disease
2014-06-03

Abstract From the first descriptions of Parkinson's disease (PD) and Gaucher's disease (GD) in the nineteenth century, it took more than 100 years to discover the link between the GBA gene and Parkinsonism. The observation that mutations in the GBA gene represent the most common genetic risk factor for PD so far only came into focus because of astute clinical observation of Gaucher patients and their families. In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii) present clinical characteristics of GBA ‐associated Parkinsonism, (iii) discuss possible mechanisms of the underlying pathogenesis in GBA ‐associated Parkinsonism, and (iv) provide an outlook on potentially new areas of research and treatment that arise from this important discovery.
Stimulation of Erythrocyte Cell Membrane Scrambling by Nystatin
2014-06-03

Abstract The antifungal ionophore nystatin dissipates the Na + and K + gradients across the cell membrane, leading to cellular gain of Na + and cellular loss of K + . The increase of cellular Na + concentration may result in Ca 2+ accumulation in exchange for Na + . Increase of cytosolic Ca 2+ activity ([Ca 2+ ] i ) and loss of cellular K + foster apoptosis‐like suicidal erythrocyte death or eryptosis, which is characterised by cell shrinkage and cell membrane scrambling leading to phosphatidylserine exposure at the erythrocyte surface. The present study explored whether nystatin stimulates eryptosis. Cell volume was estimated from forward scatter ( FSC ), phosphatidylserine exposure from annexin V binding and [Ca 2+ ] i from Fluo3‐fluorescence in flow cytometry. A 48‐hr exposure to nystatin (15 μg/ml) was followed by a significant increase of [Ca 2+ ] i , a significant increase of annexin V binding and a significant decrease of FSC. The annexin V binding after nystatin treatment was significantly blunted in the nominal absence of extracellular Ca 2+ . Partial replacement of extracellular Na + with extracellular K + blunted the nystatin‐induced erythrocyte shrinkage but increased [Ca 2+ ] i and annexin V binding. Nystatin triggers cell membrane scrambling, an effect at least partially due to entry of extracellular Ca 2+ .
Effect of the Alkyl Chain Length of Secondary Amines on the Phase Transfer of Gold Nanoparticles from Water to Toluene
2014-06-03

In the present paper we describe a phase transfer of aqueous synthesized gold nanoparticles (AuNPs) from water to toluene using secondary amines: dioctylamine, didodecylamine, and dioctadecylamine. The effect of the hydrocarbon chain length and amount of amines on the transfer efficiency were investigated in the case of nanoparticles (NPs) with three different sizes: 5, 9, and 13 nm. Aqueous colloids were precisely characterized before the transfer process using UV-vis spectroscopy, dynamic light scattering (DLS), small-angle X-ray scattering (SAXS), and transmission electron microscopy (TEM). Nanoparticles were next transferred to toluene and characterized using UV-vis and DLS techniques. It was found that dioctadecylamine provides the most effective transfer of nanoparticles. No time-dependent changes in the NP size were observed after 12 days, showing that the dioctadecylamine-stabilized nanoparticles dispersed in toluene were stable. This indicates that long hydrocarbon chains of dioctadecylamine exhibit sufficiently hydrophobic properties of nanoparticles and consequently their good dispersibility in nonpolar solvent.
Prognostic relevance of induced and spontaneous apoptosis of disseminated tumor cells in primary breast cancer patients
2014-06-03

Apoptotic DTC can be detected in breast cancer patients before and after systemic treatment. The presence of apoptotic DTC in patients with PST may be induced by the cytotoxic agents. Thus, both spontaneous and chemotherapy-induced apoptosis may have different prognostic significance.
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
2014-06-03

Our findings suggest that, beyond the typical length-dependent degeneration of motor axons, damage of cell bodies in the anterior horn might play a role in LRSAM1-associated neuropathies. Moreover, in conjunction with other data in the literature, our results support a model, by which disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1.
Genome-Based Discovery of a Novel Membrane-Bound 1,6-Dihydroxyphenazine Prenyltransferase from a Marine Actinomycete
2014-06-03

Recently, novel prenylated derivatives of 1,6-dihydroxyphenazine have been isolated from the marine sponge-associated Streptomyces sp. SpC080624SC-11. Genome sequencing of this strain now revealed a gene cluster containing all genes necessary for the synthesis of the phenazine and the isoprenoid moieties. Unexpectedly, however, the cluster did not contain a gene with similarity to previously investigated phenazine prenyltransferases, but instead a gene with modest similarity to the membrane-bound prenyltransferases of ubiquinone and menaquinone biosynthesis. Expression of this gene in E. coli and isolation of the membrane fraction proved that the encoded enzyme, Mpz10, catalyzes two successive prenylations of 1,6-dihydroxyphenazine. Mpz10 is the first example of a membrane-bound enzyme catalyzing the prenylation of a phenazine substrate, and one of few examples of membrane-bound enzymes involved in the prenylation of aromatic secondary metabolites in microorganisms.
Processing of syllable stress is functionally different from phoneme processing and does not profit from literacy acquisition
2014-06-03

Speech is characterized by phonemes and prosody. Neurocognitive evidence supports the separate processing of each type of information. Therefore, one might suggest individual development of both pathways. In this study, we examine literacy acquisition in middle childhood. Children become aware of the phonemes in speech at that time and refine phoneme processing when they acquire an alphabetic writing system. We test whether an enhanced sensitivity to phonemes in middle childhood extends to other aspects of the speech signal, such as prosody. To investigate prosodic processing, we used stress priming. Spoken stressed and unstressed syllables (primes) preceded spoken German words with stress on the first syllable (targets). We orthogonally varied stress overlap and phoneme overlap between the primes and onsets of the targets. Lexical decisions and Event-Related Potentials (ERPs) for the targets were obtained for pre-reading preschoolers, reading pupils and adults. The behavioral and ERP results were largely comparable across all groups. The fastest responses were observed when the first syllable of the target word shared stress and phonemes with the preceding prime. ERP stress priming and ERP phoneme priming started 200 ms after the target word onset. Bilateral ERP stress priming was characterized by enhanced ERP amplitudes for stress overlap. Left-lateralized ERP phoneme priming replicates previously observed reduced ERP amplitudes for phoneme overlap. Groups differed in the strength of the behavioral phoneme priming and in the late ERP phoneme priming effect. The present results show that enhanced phonological processing in middle childhood is restricted to phonemes and does not extend to prosody. These results are indicative of two parallel processing systems for phonemes and prosody that might follow different developmental trajectories in middle childhood as a function of alphabetic literacy.
Erratum: HESS J1640-465 - an exceptionally luminous TeV -ray supernova remnant
2014-06-03

The paper ‘HESS J1640−465 – an exceptionally luminous TeV γ-ray supernova remnant’ was published in MNRAS, 439, 2828 (2014).&#13;\\n&#13;\\nDue to an error in the integration of the differential energy spectrum, the luminosities stated in Sections 2.2 and 4.3 are incorrect. The luminosity of HESS J1640−465 above 1 TeV at 10 kpc distance is L&gt;1 TeV ≃ 7.8 × 1034 (d/10 kpc)2 erg s−1. The calculation of the points in the spectral energy distributions shown in Figs 3 and 5 are not affected by this error. Therefore, our conclusions in the discussion section are unaltered, especially what concerns the energy in interacting cosmic rays Wpn ̄H.
Non-perturbative and self-consistent models of neutron stars inR-squared gravity
2014-06-04

In the present paper we investigate non-perturbatively and self-consistently\\nthe structure of neutron stars in -squared gravity by simultaneously solving\\nthe interior and exterior problem. The mass-radius relations are obtained for\\nseveral equations of state and for wide range of the -squared gravity\\nparameter . Even though the deviation from general relativity for nonzero\\nvalues of can be large, they are still comparable with the variations due\\nto different modern realistic equations of state. That is why the current\\nobservations of the neutron star masses and radii alone can not put constraints\\non the value of the parameter . We also compare our results with those\\nobtained within the perturbative method and we discuss the differences between\\nthem.\\n
Neuronal Correlates of Visual Working Memory in the Corvid Endbrain
2014-06-04

The concept of working memory is key to cognitive functioning. Working memory encompasses the capacity to retain immediately past information, to process this information, and to use it to guide goal-directed behavior. Corvid songbirds are renowned for their high-level cognitive capabilities, but where and how visual information is temporarily retained by neurons in the avian brain in a behaviorally relevant way remains poorly understood. We trained four carrion crows (Corvus corone) on versions of a delayed match-to-sample task that required the crows to remember a visual stimulus for later comparison. While the crows performed the task, we recorded the activity of single neurons in the nidopallium caudolaterale (NCL), a pallial association area of the avian endbrain. We show that many NCL neurons encode information about visual stimuli and temporarily maintain this information after the stimulus disappeared by sustained delay activity. Selective delay activity allows the birds to hold relevant information in memory and correlates with discrimination behavior. This suggests that sustained activity of NCL neurons is a neuronal correlate of visual working memory in the corvid brain and serves to bridge temporal gaps, thereby offering a workspace for processing immediately past visual information.
Comparison of Humic Substance- and Fe(III)-Reducing Microbial Communities in Anoxic Aquifers
2014-06-04

Humic substances can mediate electron transfer between microorganisms and Fe(III) minerals. Because it is unknown which microorganisms reduce humics in anoxic aquifers, we analyzed the diversity and physiological flexibility of Fe(III)-, humics-, and AQDS-reducers, which were present at up to 106 cells g−1. No significant differences in 16S rRNA gene based diversity were found between enrichment cultures reducing ferrihydrite, humics or AQDS. Even after repeated transfers many of the enrichments retained the ability to switch to other electron acceptors. This suggests that humics- and Fe(III)-reducing microorganisms in anoxic aquifers are rather versatile and able to reduce different extracellular electron acceptors.
Axonal and dendritic localization of mRNAs for glycogen-metabolizing enzymes in cultured rodent neurons
2014-06-04

We could demonstrate that the mRNAs for major enzymes of neural energy metabolism can be localized to neuronal processes. The heterogeneous pattern of mRNA localization in different culture types and developmental stages stresses that mRNA localization is a versatile mechanism for the fine-tuning of cellular events. Our findings suggest that mRNA localization for enzymes of glycogen metabolism could allow adaptation to spatial and temporal energy demands in neuronal events like growth, repair and synaptic transmission.
Abnormal Center–Periphery Gradient in Spatial Attention in Simultanagnosia
2014-06-04

Abstract Patients suffering from simultanagnosia cannot perceive more than one object at a time. The underlying mechanism is incompletely understood. One hypothesis is that simultanagnosia reflects “tunnel vision,” a constricted attention window around gaze, which precludes the grouping of individual objects. Although this idea has a long history in neuropsychology, the question whether the patients indeed have an abnormal attention gradient around the gaze has so far not been addressed. Here we tested this hypothesis in two simultanagnosia patients with bilateral parieto-occipital lesions and two control groups, with and without brain damage. We assessed the participants' ability to discriminate letters presented briefly at fixation with and without a peripheral distractor or in the visual periphery, with or without a foveal distractor. A constricted span of attention around gaze would predict an increased susceptibility to foveated versus peripheral distractors. Contrary to this prediction and unlike both control groups, the patients' ability to discriminate the target decreased more in the presence of peripheral compared with foveated distractors. Thus, the attentional spotlight in simultanagnosia does not fall on foveated objects as previously assumed, but rather abnormally highlights the periphery. Furthermore, we found the same center–periphery gradient in the patients' ability to recognize multiple objects. They detected multiple, but not single objects more accurately in the periphery than at fixation. These results suggest that an abnormal allocation of attention around the gaze can disrupt the grouping of individual objects into an integrated visual scene.
Catalytic Activity of cGMP-Dependent Protein Kinase Type I in Intact Cells Is Independent of N-Terminal Autophosphorylation
2014-06-04

Although cGMP-dependent protein kinase type I (cGKI) is an important mediator of cGMP signaling and upcoming drug target, its in vivo-biochemistry is not well understood. Many studies showed that purified cGKI autophosphorylates multiple sites at its N-terminus. Autophosphorylation might be involved in kinase activation, but it is unclear whether this happens also in intact cells. To study cGKI autophosphorylation in vitro and in vivo, we have generated phospho-specific antisera against major in vitro-autophosphorylation sites of the cGKI isoforms, cGKIα and cGKIβ. These antisera detected specifically and with high sensitivity phospho-cGKIα (Thr58), phospho-cGKIα (Thr84), or phospho-cGKIβ (Thr56/Ser63/Ser79). Using these antisera, we show that ATP-induced autophosphorylation of cGKI in purified preparations and cell extracts did neither require nor induce an enzyme conformation capable of substrate heterophosphorylation; it was even inhibited by pre-incubation with cGMP. Interestingly, phospho-cGKI species were not detectable in intact murine cells and tissues, both under basal conditions and after induction of cGKI catalytic activity. We conclude that N-terminal phosphorylation, although readily induced in vitro, is not required for the catalytic activity of cGKIα and cGKIβ in vivo. These results will also inform screening strategies to identify novel cGKI modulators.
Law and Commerce: The Evolution of Codified Business Law in Europe
2014-06-04

This paper tracks the evolution of the codification of commercial law and company law, also known as business law. While the literature on codification in general is vast, little attention has been dedicated to the importance of business law in this context although the first major moves towards codification were achieved in this field. A comparative and historical survey of the codification of business law in France, England and Germany illustrates how the European legal landscape has been affected by the process of casting the law into statutory form. Indeed, despite the commonly held misconception that there is “a” commercial code, the legislative responses to the needs of commerce have varied widely from country to country, for while company law was always in focus, the rest of the corpus differs substantially. The code de commerce of 1807 was primarily of procedural nature, while the German commercial code of 1863 created its own “private law cosmos” and the late English codes adopted yet another, very selective, strategy. The aim of this comparative study is to understand the foundations of the legal institutions of the 19th century which still form the basis of our current statutes. This in turn allows to make some predictions for likely future developments.
Ice flow models and glacial erosion over multiple glacial–interglacial cycles
2014-06-04

Abstract. Mountain topography is constructed through a variety of interacting processes. Over glaciological time scales, even simple representations of glacial-flow physics can reproduce many of the distinctive features formed through glacial erosion. However, detailed comparisons at orogen time and length scales hold potential for quantifying the influence of glacial physics in landscape evolution models. We present a comparison using two different numerical models for glacial flow over single and multiple glaciations, within a modified version of the ICE-Cascade landscape evolution model. This model calculates not only glaciological processes but also hillslope and fluvial erosion and sediment transport, isostasy, and temporally and spatially variable orographic precipitation. We compare the predicted erosion patterns using a modified SIA as well as a nested, 3-D Stokes-flow model calculated using COMSOL Multiphysics. Both glacial-flow models predict different patterns in time-averaged erosion rates. However, these results are sensitive to the climate and the ice temperature. For warmer climates with more sliding, the higher-order model has a larger impact on the erosion rate, with variations of almost an order of magnitude. As the erosion influences the basal topography and the ice deformation affects the ice thickness and extent, the higher-order glacial model can lead to variations in total ice-covered that are greater than 30%, again with larger differences for temperate ice. Over multiple glaciations and long-time scales, these results suggest that consideration of higher-order glacial physics may be necessary, particularly in temperate, mountainous settings.
How Was Life?
2014-06-05

This chapter provides a parsimonious overview of the trends in various well-being dimensions covered in the previous chapters by constructing a composite index of well-being. It discusses the crucial problem of choosing a set of weights to calculate such a composite index. Related problems include normalisation of individual indices and dealing with missing observations. The chapter discusses the advantages of various options, and their implications for the final results. It finds that empirically a wide range of aggregation methods generate comparable results. They all indicate that progress in well-being was commonplace since the early 20th century, with the possible exception of Sub-Saharan Africa. It is also found that since the 1970s between-country inequality in composite well-being is lower than in GDP per capita, while being more pronounced in the period before.
A Nonlinear Structural Equation Mixture Modeling Approach for Nonnormally Distributed Latent Predictor Variables
2014-06-05

Structural equation models with interaction and quadratic effects have become a standard tool for testing nonlinear hypotheses in the social sciences. Most of the current approaches assume normally distributed latent predictor variables. In this article, we describe a nonlinear structural equation mixture approach that integrates the strength of parametric approaches (specification of the nonlinear functional relationship) and the flexibility of semiparametric structural equation mixture approaches for approximating the nonnormality of latent predictor variables. In a comparative simulation study, the advantages of the proposed mixture procedure over contemporary approaches [Latent Moderated Structural Equations approach (LMS) and the extended unconstrained approach] are shown for varying degrees of skewness of the latent predictor variables. Whereas the conventional approaches show either biased parameter estimates or standard errors of the nonlinear effects, the proposed mixture approach provides unbiased estimates and standard errors. We present an empirical example from educational research. Guidelines for applications of the approaches and limitations are discussed.