gebhart/patrepeval huggingface dataset:
Identification of a Novel Factor V A2 Domain Tyrosine Deletion Mutation in a Patient with Factor V Deficiency and Bleeding. (2004)

Abstract The gene for coagulation Factor V (FV) is located on chromosome 1q23. FV deficiency shows an autosomal recessive mode of inheritance; heterozygotes are generally not clinically affected. The homozygous clinical phenotype occurs in approximately 1 per million individuals with variable severity of bleeding. Thus, genotype-phenotype correlations are likely to shed light on functionally important residues of FV. Here we describe a case of FV deficiency with a severe bleeding phenotype. The proband is a male infant from Argentina. His parents are unrelated. He was born healthy with no bleeding from the umbilical stump or other symptoms. He presented at eight months with a CNS hemorrhage, then suffered a second massive subdural bleed at nine months of age. Both episodes required surgical drainage and treatment with fresh frozen plasma He continues to receive prophylactic FFP infusions and has some residual neurologic impairment. The proband’s FV activity ranges from 2–14%. Two siblings are unaffected. His father’s FV activity is 50% and his mother’s is 70%. We performed DNA sequencing spanning the entire coding region of the proband’s FV gene and found two heterozygous mutations: a heterozygous single base pair deletion, del 2952T in exon 13, located in the B-domain of the FV protein, causing a frameshift mutation followed by a premature termination codon 3 amino acids downstream; and a novel 3-bp deletion in exon 10. This deletion is in-frame and results in the deletion of Y478. The del 2952T frameshift mutation was present in the father, while the del Y478 mutation was present in the mother. Y478 is in the A2 domain of FV and adjacent to another tyrosine, Y477. Evidence suggests that these tyrosine residues are important for co-factor function. Tyrosine residue sulfation has been shown to be required for full activity of the homologous co-factor, FVIII, as well as for hirudin. These sulfated tyrosines and surrounding acidic amino acids have been proposed to be important in interactions with the thrombin anion binding exosite; in the case of hirudin, sulfation of a carboxy-terminal tyrosine increases the affinity for thrombin 10-fold. The homologous tyrosines, Y718 and Y719 appear to be sulfated in FVIII. FV has been shown to be sulfated, but the precise location of the FV sulfation sites has not yet been determined. One of this patient’s FV alleles is nonfunctional due to a frameshift and a premature trancation of translation. With respect to the other allele, we hypothesize that, like FVIII, one or both of FV tyrosines 477 and 478 is sulfated, and that deletion of Y478 may result in disruption of FV co-factor function. In vitro mutagenesis and expression studies to characterize the functional consequences of the del Y478 and/or del Y477 are in progress.
Building-integrated photo-voltaics: market challenges and bioinspired solutions (2021)

We have heavily relied for a few centuries on fossil fuels, which are basically dead plant material that was sequestered and converted millions of years ago, but the rapidly increasing energy demand combined with climatic challenges means we need to develop a large-scale supply of energy from sources without climatic impact. An obvious choice is to use solar energy directly when possible, and a complete global transition to solar energy by 2050 is realistic and cost effective. However, in order to find space for the large areas needed for harvesting solar energy by photovoltaic means, it would be advantageous if solar panels could be incorporated into urban buildings and free land for other uses. We undertook an analysis of the needs and requirements from the building industry that will allow for a more widespread use of solar panels on buildings, also referred to as Building Integrated Photo-Voltaics. Specifications and options for the visual incorporation of the solar panels in the building envelope were identified. Special attention was paid to (i) the role of modularization and standardization in architecture and (ii) the role of color and reflectance. A standardized mounting system is proposed that will allow for modular attachment of solar panels, making it easy to adjust, repair, and replace individual panels. Biological inspiration can be used to improve the system further. The forced-air ventilation of the tunnels of prairie dogs shows how to enhance cooling. The non-iridescent wings of butterflies of the Morpho genus, proposes how a low-cost structurally colored film can be inserted into the solar panel during its assembly.
Practical Syntheses of (2S)‐R207910 and (2R)‐R207910 (2011)

Abstract Concise and practical syntheses of (2 S )‐R207910 ( 3a ) and (2 R )‐R207910 ( 3b ) have been achieved in high overall yield of 12 % in 10 steps for each isomer starting from a known intermediate following Sharpless asymmetric epoxidation, regioselective epoxide opening, modified allylzinc bromide addition as key reactions.
Restoration of Movement Using Functional Electrical Stimulation and Bayes' Theorem (2002)

Various computational approaches have been applied to predict aspects of animal behavior from the recorded activity of populations of neurons. Here we invert this process to predict the requisite neuromuscular activity associated with specified motor behaviors. A probabilistic method based on Bayes' theorem was used to predict the patterns of muscular activity needed to produce various types of desired finger movements. The profiles of predicted activity were then used to drive frequency-modulated muscle stimulators to evoke multijoint finger movements. Comparison of movements generated by electrical stimulation with desired movements yielded root mean squared errors between approximately 18 and 26%. This reasonable correspondence between desired and evoked movements suggests that this approach might serve as a useful strategy to control neuroprosthetic systems that aim to restore movement to paralyzed individuals.
High salinity tolerance in the stl2 mutation of Ceratopteris richardii is associated with enhanced K+ influx and loss (1996)

ABSTRACT The roles of K + uptake and loss in the salinity response of the wild type and the salt‐tolerant mutant stl2 of Ceratopteris richardii were studied by measuring Rb + influx and loss and the effects of Na + , Mg 2+ , Ca 2+ and K + ‐transport inhibitors. In addition, electrophysiological responses were measured for both K + and Rb + and for the effects of Na + and NH 4 + on subsequent K + ‐induced depolarizations. stl2 had a 26–40% higher uptake rate for Rb + than the wild type at 0.5–10 mol m −3 RbCl. Similarly, membrane depolarizations induced by both RbCl and KCl were consistently greater in stl2 . In the presence of 0–180 mol m −3 NaCl, stl2 maintained a consistently greater Rb + influx than the wild type. stl2 retained a greater capacity for subsequent KCl‐induced depolarization following exposure to NaCl. Five mol m −3 Mg 2+ decreased Rb + uptake in stl2 ; however, additional Mg 2+ up to 40 mol m −3 did not affect Rb + uptake further. Ca 2+ supplementation resulted in a very minor decrease of Rb + uptake that was similar in the two genotypes. Tetraethylammonium chloride and CsCl gave similar inhibition of Rb + uptake in both genotypes, but NH 4 Cl gave substantially greater inhibition in the wild type than in stl2 . NH 4 Cl resulted in a greater membrane depolarization in the wild type and the capacity for subsequent depolarization by KCl was markedly reduced. stl2 exhibited a higher Independent loss of Rb + than the wild type, but, in the absence of external K + , loss of Rb + was equivalent in the two genotypes. Since constitutive K + contents are nearly identical, we conclude that high K + influx and loss exact a metabolic cost that is reflected in the inhibition of gametophytic growth. Growth inhibition can be alleviated by reduced supplemental K + or by treatments that slightly reduce K + influx, such as moderate concentrations of Na + or Mg 2+ . We propose that high throughput of K + allows maintenance of cytosolic K + under salt stress and that a high uptake rate for K + results in a reduced capacity for the entrance and accumulation of alternative cations such as Na + in the cytosol.
Maximization of the feed-in of renewable energy into high-voltage grids by optimal switching (2015)

In this paper the problem of finding optimal topological configurations of a power transmission system is considered with the aim of maximizing the renewable energy injection. A realistic modeling strategy for bus couplers in multiple-busbar stations is proposed. The solution of the resulting mixed-integer nonlinear programming problem (MINLP) is carried out by a novel binary variant of the Particle Swarm Optimization algorithm (PSO). The performance of the method is illustrated by different simulation scenarios on a realistic 110 kV grid. The analysis shows that the initialization scheme has large impact on the solution space and the convergence characteristic. Suggestions for parameterization of the proposed algorithm under power system operational aspects are discussed.
Production of a thermal stress resistant mutant Euglena gracilis strain using Fe-ion beam irradiation (2016)

Euglena gracilis is a common phytoplankton species, which also has motile flagellate characteristics. Recent research and development has enabled the industrial use of E. gracilis and selective breeding of this species is expected to further expand its application. However, the production of E. gracilis nuclear mutants is difficult because of the robustness of its genome. To establish an efficient mutation induction procedure for E. gracilis, we employed Fe-ion beam irradiation in the RIKEN RI beam factory. A decrease in the survival rate was observed with the increase in irradiation dose, and the upper limit used for E. gracilis selective breeding was around 50 Gy. For a practical trial of Fe-ion irradiation, we conducted a screening to isolate high-temperature-tolerant mutants. The screening yielded mutants that proliferated faster than the wild-type strain at 32 °C. Our results demonstrate the effectiveness of heavy-ion irradiation on E. gracilis selective breeding.
Belief Propagation and LP Relaxation for Weighted Matching in General Graphs (2011)

Loopy belief propagation has been employed in a wide variety of applications with great empirical success, but it comes with few theoretical guarantees. In this paper, we analyze the performance of the max-product form of belief propagation for the weighted matching problem on general graphs. We show that the performance of max-product is exactly characterized by the natural linear programming (LP) relaxation of the problem. In particular, we first show that if the LP relaxation has no fractional optima then max-product always converges to the correct answer. This establishes the extension of the recent result by Bayati, Shah and Sharma, which considered bipartite graphs, to general graphs. Perhaps more interestingly, we also establish a tight converse, namely that the presence of any fractional LP optimum implies that max-product will fail to yield useful estimates on some of the edges. We extend our results to the weighted <i xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">b</i> -matching and <i xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">r</i> -edge-cover problems. We also demonstrate how to simplify the max-product message-update equations for weighted matching, making it easily deployable in distributed settings like wireless or sensor networks.
Orbitofrontal Cortex Volume and Effortful Control as Prospective Risk Factors for Substance Use Disorder in Adolescence (2016)

Smaller volumes of the OFC and low effortful control during adolescence appear to be associated phenotypes that increase the risk of subsequent SUD. Further studies examining the temporal sequence of these risk factors are needed to fully understand this relationship.
A Divergence Point in the Signaling of Insulin and IGF-1-Induced Proliferation of Skin Keratinocytes (2001)

Insulin and insulin-like growth factor-1 (IGF-1) are members of the family of the insulin family of growth factors, which activate similar cellular downstream pathways. In this study, we analyzed the effects of insulin and IGF-1 on the proliferation of murine skin keratinocytes in an attempt to determine whether these hormones trigger the same signaling pathways. Increasing doses of insulin and IGF-1 promote keratinocyte proliferation in an additive manner. We identified downstream pathways specifically involved in insulin signaling that are known to play a role in skin physiology; these include activation of the Na + /K + pump and protein kinase C (PKC). Insulin, but not IGF-1, stimulated Na + /K + pump activity. Furthermore, ouabain, a specific Na + /K + pump inhibitor, abolished the proliferative effect of insulin but not that of IGF-1. Insulin and IGF-1 also differentially regulated PKC activation. Insulin, but not IGF-1, specifically activated and
What factors affect false positive recalls most in digital breast tomosynthesis versus digital mammography? A statistical approach (2015)

Poster: ECR 2015 / C-1124 / What factors affect false positive recalls most in digital breast tomosynthesis versus digital mammography? A statistical approach by: A. M. Rosso1, I. F. Petersson1, K. Lang2, S. Zackrisson2; 1Lund/SE, 2Malmo/SE
Probabilities and Epistemic Pluralism (1998)

A pluralistic scientific method is one that incorporates a variety of points of view in scientific inquiry. This paper investigates one example of pluralistic method: the use of weighted averaging in probability estimation. I consider two methods of weight determination, one based on disjoint evidence possession and the other on track record. I argue that weighted averaging provides a rational procedure for probability estimation under certain conditions. I consider a strategy for calculating ‘mixed weights’ which incorporate mixed information about agent credibility. I address various objections to the weighted averaging technique and conclude that the technique is a promising one in various respects.
Silicon Nanowire Solar Cells With µc-Si:H and a-Si:H Absorbers For Tandem Radial Junction Devices (2019)

International audience
Patients with atherosclerosis may have increased circulating levels of 27‐hydroxycholesterol and cholestenoic acid (2005)

Extrahepatic sterol 27-hydroxylase (CYP27) appears to have a role in the elimination of excess cholesterol from various cells, particularly macrophages, and there is a net flux of 27-hydroxyycholesterol and its metabolites from different extrahepatic sources to the liver. In this study we tested the hypothesis that patients with advanced atherosclerosis may have higher levels of 27-oxygenated products in the circulation than control subjects. Concordant with previous studies, a strong correlation was observed between circulating levels of 27-hydroxycholesterol and cholesterol, in both healthy subjects and subjects with hypercholesterolemia and documented atherosclerosis. A group of male subjects with normal or only slightly elevated serum cholesterol and rapidly progressing carotid atherosclerosis (n = 20) had serum levels of 27-oxygenated cholesterol not statistically different from those of a matched group of subjects with little or no development of atherosclerosis (n = 20). The situation was similar in a group of patients (n = 20) with advanced general atherosclerosis associated with severe clinical symptoms. Among the two groups of patients with atherosclerosis, a few patients had relatively high levels of 27-oxygenated products. Among the healthy controls, two healthy volunteers (brother and sister) were found to have high levels of 27-hydroxycholesterol, most probably due to genetic reasons. The possibility is discussed that the high levels of 27-oxygenated products in the circulation of a few patients with atherosclerosis may be related to high amounts of active macrophages present in atherosclerotic lesions. In view of the number of factors that could affect the levels in the circulation, other explanations cannot be ruled out. At the present state of knowledge, measurements of circulating levels of 27-oxygenated metabolites do not seem to add useful information about the atherosclerotic process.
Selection of tissue engineering matrix for cardiac repair medicine (2004)

Objectives: Biodegradable synthetic and natural polymers are currently investigated as matrices for the formation of muscle tissues in vitro and as implants for myocardium repair. In this study, we compare two different type of matrix for growing myoblasts in order to develop potential scaffold for neo-myocardium in vitro. This work served as a basis for new therapeutic strategy in the treatment of defects in cardiac tissue by to implantation of tissue engineered in vitro.
<title>Highly functional and versatile camera platform for a multipurpose robotic vehicle</title> (1993)

A highly functional and versatile camera platform for a multi-purpose robotic vehicle utilizing a novel modular approach is presented. The platform uses only three CCD camera, four computer-controlled rotation stages and three modular optical imaging systems to provide both a stereo vision mode at any desired viewing angle and a panoramic vision mode with a 180° nonoverlapping field-of-view. The panoramic view from the imaging system of each module is collected by one of three mirrors and transmitted collectively towards a corrresponding CCD camera. Stereo vision mode is accessed by aligning any two of the three modules in parallel using their respective rotation stages. When the entire assembly is rotated by another rotation stsge, any desired viewing angle is obtained.
Assignment of the rhodopsin gene to human chromosome 3. (1986)

The human rhodopsin gene has been assigned to human chromosome 3 through the use of a mouse DNA probe and human/mouse somatic cell hybrids.
Biosynthesis of Nucleotide-activatedd-glycero-d-manno-Heptose (2001)

The glycan chain repeats of the S-layer glycoprotein of Aneurinibacillus thermoaerophilus DSM 10155 contain d-glycero-d-manno-heptose, which has also been described as constituent of lipopolysaccharide cores of Gram-negative bacteria. The four genes required for biosynthesis of the nucleotide-activated form GDP-d-glycero-d-manno-heptose were cloned, sequenced, and overexpressed in Escherichia coli, and the corresponding enzymes GmhA, GmhB, GmhC, and GmhD were purified to homogeneity. The isomerase GmhA catalyzed the conversion of d-sedoheptulose 7-phosphate to d-glycero-d-manno-heptose 7-phosphate, and the phosphokinase GmhB added a phosphate group to form d-glycero-d-manno-heptose 1,7-bisphosphate. The phosphatase GmhC removed the phosphate in the C-7 position, and the intermediate d-glycero-alpha-d-manno-heptose 1-phosphate was eventually activated with GTP by the pyrophosphorylase GmhD to yield the final product GDP-d-glycero-alpha-d-manno-heptose. The intermediate and end products were analyzed by high performance liquid chromatography. Nuclear magnetic resonance spectroscopy was used to confirm the structure of these substances. This is the first report of the biosynthesis of GDP-d-glycero-alpha-d-manno-heptose in Gram-positive organisms. In addition, we propose a pathway for biosynthesis of the nucleotide-activated form of l-glycero-d-manno-heptose.
A Multiscale NDT System for Damage Detection in Thermal Barrier Coatings (2009)

Progress in aero-engines and land-based gas turbines is continuously linked with a rise of the operating temperature. TBCs are multilayered structures which function together to effectively lower the temperature of its load-bearing superalloy substrate while simultaneously providing oxidation protection against high temperature combustion environments during operation. They typically comprise of a ceramic top coat for thermal insulation and a metallic bond coat that provides oxidation/corrosion resistance and enhances the adhesion of the YSZ to the superalloy substrate. Due to high-temperature oxidation of the bond coat, a thermally grown oxide (TGO) scale of continuous Al2O3 is formed between the ceramic top coat and the bond coat. The formation and growth of the TGO increases the mismatch of thermal expansion coefficients among the multilayered TBC and induce high thermal stresses leading to spallation of the YSZ coat from the underlying metal. Hence, nondestructive diagnostic tools that could reliably probe the subsurface damage state of TBCs are essential to take full advantage of these systems. In this contribution, a new concept of multiscale NDT system is presented. The instrument uses a combination of imaging-based methods with photoluminescence piezospectroscopy, a laser-based method. Imaging-based methods like mid-infrared reflectance, laser optical backscatter and infrared tomography were used to predict the overall lifetime of the coated component. When TBCs approach the end of life, micro-crack nucleation and propagation at the top coat/bond coat interface increases the amount of reflected light. This rise in reflectance was correlated with the lifetime of the component using a neural network that merges the mean and standard deviation value of the gray level. Photoluminescence piezospectroscopy was subsequently used to give information about the structural integrity of the hot spots identified in the image analysis. This laser-based technique measures in-situ the residual stress in the TGO at room temperature. Damage leads to a relaxation of the local stress which is in turn reflected in the luminescence spectrum shape. However, presently there is no agreement on the best spectral parameters that should be used as a measure of the damage accumulation in the coatings. Therefore, the evolution of luminescence spectrum from as-manufactured to critically damaged TBCs was determined using the finite element method. This approach helped to identify the most suitable spectral parameters for damage detection, improving the reliability of photoluminescence piezospectroscopy as a failure assessment tool for TBCs.
Mechanisms of bacterial pathogenicity (2002)

Pathogenic bacteria utilise a number of mechanisms to cause disease in human hosts. Bacterial pathogens express a wide range of molecules that bind host cell targets to facilitate a variety of different host responses. The molecular strategies used by bacteria to interact with the host can be unique to specific pathogens or conserved across several different species. A key to fighting bacterial disease is the identification and characterisation of all these different strategies. The availability of complete genome sequences for several bacterial pathogens coupled with bioinformatics will lead to significant advances toward this goal.