gebhart/patrepeval huggingface dataset:
A Novel Variant in <b><i>G6PD</i></b> (c.1375C&#x3e;G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity (2020)

We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg/dL or 510 μmol/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal <1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U/g Hb, normal 9.9-16.6 U/g Hb) and a novel G6PD variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation.
Nanodiamonds: Emergence of Functionalized Diamondoids and Their Unique Applications (2014)

After the blooming of fullerene and carbon nanotube chemistry, various forms of nanodiamonds (NDs) represent the most recently explored exciting class of carbon allotropes. This chapter focuses on the origin and descriptions of molecularly defined NDs and their functionalization. Properties of organohybrids built from such species are emphasized, in particular, via the examination of their applications spanning important scientific fields from synthetic chemistry to materials science. The functionalization of diamondoids and ultradispersed detonation nanodiamond has opened the way for the construction of a very large diversity of nanohybrids. Nanoparticles of various origins are now intensively examined for biological applications such as imaging, diagnostic, or drug delivery. The synthetic applications of diamondoids in catalysis are promising since the existing examples of decorating phosphines with adamantantyl or diamantantyl fragments have given spectacular results in terms of catalytic efficiency and scope.
Physical model for enhanced interface-trap formation at low dose rates (2002)

We describe a model for enhanced interface-trap formation at low dose rates due to space-charge effects in the base oxides of bipolar devices. The use of analytical models allows one to reduce significantly the number of free parameters of the theory and to elucidate the main physical mechanisms that are responsible for interface-trap and oxide-trap formation processes. We found that the hole trapping in the oxide cannot be responsible for all the enhanced low-dose-rate sensitivity (ELDRS) effects in SiO/sub 2/, and the contribution of protons is also essential. The dynamics of interface-trap formation are defined by the relation between the proton mobility (transport time of the protons across the oxide) and the time required for positive-charge buildup near the interface due to trapped holes. The analytically estimated and numerically calculated interface-trap densities were found to be in very good agreement with available experimental data.
Whispering gallery waves in horizontal plane in vicinity of curved isobaths in shallow water (2017)

Interference structure of the sound field in horizontal plane in shallow water with parameters variable in horizontal plane is studied within the framework of the so-called 3D problem. Formally, this problem can be solved using separation of the vertical coordinate (depth) in the wave equation in supposition that depth dependence of the sound field is described by adiabatic waveguide modes. Remaining part is two-dimensional dispersive wave equation which can be solved by different methods (PE, ray approximation, and modal decomposition). It is shown in the paper that in a shallow water waveguide with variable bathymetry with curvilinear isobaths (Laguna, lake) there exist specific solutions of this equation, concentrated in horizontal plane approximately along isobath lines (whispering gallery waves), up to formation of the waveguide modes in the horizontal plane. Number of modes and their shape depend on position of the source, frequency and radius of curvature. Remark that this whispering gallery modes can exist in real conditions, for example, for frequency about a few hundreds Hz and radius of curvature about 5–10 km. Analytical expression and results of modeling using ray approximation and PE are presented for real shallow water conditions. [Work was supported by ISF, grant 565/15.]
Influence of a local change of depth on the behavior of bouncing oil drops (2013)

The work of Couder \textit{et al} (see also Bush \textit{et al}) inspired consideration of the impact of a submerged obstacle, providing a local change of depth, on the behavior of oil drops in the bouncing regime. In the linked videos, we recreate some of their results for a drop bouncing on a uniform depth bath of the same liquid undergoing vertical oscillations just below the conditions for Faraday instability, and show a range of new behaviors associated with change of depth. This article accompanies a fluid dynamics video entered into the Gallery of Fluid Motion of the 66th Annual Meeting of the APS Division of Fluid Dynamics.
Supramolecular ABC Triblock Copolymers (2009)

Just add it! Ruthenium initiators functionalized with hydrogen-bonding sites were utilized in ring-opening metathesis polymerization to prepare heterotelechelic polymers with hydrogen-bonding and metal-coordination units in a single step. Supramolecular ABC triblock copolymers were then self-assembled in one pot by simply adding complementary telechelic polymers to a solution of the heterotelechelic polymer (see picture).
Structural Characterization of Mechanically Alloyed AlMg-CeO<sub>2</sub> Composite (2015)

A mechanical alloying and hot extrusion method was used to manufacture an AlMg-based composite reinforced by ~9 wt.% addition of CeO 2 . Structural features of as-extruded and re-melted samples were characterized by SEM/TEM observations and XRD analysis. Highly refined structure with uniform distribution of structural components has been received. It was found that during mechanical alloying and following hot pressing and extrusion of the material the decomposition of CeO 2 oxides has been initiated. As result, formation of intermetallic grains of Al 4 Ce type was observed. Thermal analysis experiments combined with structural characterization allowed to determine the equilibrium state of the AlMg-CeO 2 composite structure.
Epigenetic therapy of myelodysplastic syndromes connects to cellular differentiation independently of endogenous retroelement derepression (2019)

Our study identifies the developmentally regulated transcriptional signatures of protein-coding and non-coding genes, rather than EREs, as correlates of a favourable response of MDS and CMML patients to 5-AZA treatment and offers novel candidates for further evaluation.
Operative Treatment for Dorsal Lip Fracture of the Base of the Middle Phalanx (2004)

Purpose: To evaluate the clinical and radiological results of operative treatment for dorsal lip fracture of the base of the middle phalanx. Materials and Methods: From 1992 to 2003 we experienced 9 cases of dorsal lip fracture of the middle phalangeal base that were treated surgically. Spinal needle fixation was used in cases with comminution. Miniscrew fixation was performed in cases with a fragment larger than half of the articular surface. The pull-out technique was performed only in the cases with a fragment without comminution smaller than half of the articular surface. Bone union was evaluated using roentgenograms and clinical evaluations were done using Steel’s scoring method. Results: The average follow up after operation was 12.3 months. Cases showed union at an average of 7 weeks postoperatively. Two cases achieved excellent results, six cases good, and one case achieved a fair result; mean proximal interphalangeal joint flexion was 100 degrees (range 90-106). Extension deficit of 5 degrees was noted in 2 fingers. Conclusion: The pull-out technique, miniscrew fixation, and spinal needle fixation can produce a good clinical and radiological outcome in the treatment of dorsal lip fracture of the base of the middle phalanx.
Multiple Fingers – One Gestalt (2016)

The Gestalt theory of perception offered principles by which distributed visual sensations are combined into a structured experience ("Gestalt"). We demonstrate conditions whereby haptic sensations at two fingertips are integrated in the perception of a single object. When virtual bumps were presented simultaneously to the right hand's thumb and index finger during lateral arm movements, participants reported perceiving a single bump. A discrimination task measured the bump's perceived location and perceptual reliability (assessed by differential thresholds) for four finger configurations, which varied in their adherence to the Gestalt principles of proximity (small versus large finger separation) and synchrony (virtual spring to link movements of the two fingers versus no spring). According to models of integration, reliability should increase with the degree to which multi-finger cues integrate into a unified percept. Differential thresholds were smaller in the virtual-spring condition (synchrony) than when fingers were unlinked. Additionally, in the condition with reduced synchrony, greater proximity led to lower differential thresholds. Thus, with greater adherence to Gestalt principles, thresholds approached values predicted for optimal integration. We conclude that the Gestalt principles of synchrony and proximity apply to haptic perception of surface properties and that these principles can interact to promote multi-finger integration.
Elastic energy of strained islands: Contribution of the substrate as a function of the island aspect ratio and inter-island distance (1998)

The finite element method is applied to strain-induced islands. The distribution of the elastic energy in the island and the substrate is determined as a function of the island aspect ratio and inter-island distance. When the height-over-base ratio increases, the total elastic energy density decreases and the relative contribution of the substrate increases. When the inter-island distance decreases, the elastic energy density increases and the relative contribution of the substrate decreases. The influence of the aspect ratio on the relaxation rate is amplified for short inter-island distances.
Does Scene Perception Involve an Active Schema? (2016)

Results indicating rapid integration of the multiple types of information in a scene have led a number of investigators to propose that scene perception involves a schema (e.g., Fei-Fei, Greene, Intraub, Palmer). What is a schema, and what is an active schema? A schema can be viewed as a network for accepting information about scenes, with nodes representing important entities (e.g., object, surfaces, functions). Previous results indicated that the network can be primed by presenting scenes with similar entities (scenes with active people, or with building structures), resulting in more rapid subsequent perception of prime-consistent details (Sanocki & Schultz, VSS 2015). Here we ask how active this network is: Can it speed the perception of entities that are abstractly related to the primes? For example, when primed for building structures, will observers more rapidly encode information about art structures that are not buildings? Can scenes depicting different groups of animals prime an abstract identity schema that rapidly encodes people? Observers viewed a series of pictures and wrote brief descriptions of what they saw after each picture. After 5 prime pictures, the scenes on critical trials 6 and 7 contained both art structures and people (150 ms durations). Results indicate that the scene schema is moderately abstract but not highly abstract. Building structures primed art structures, and a mixture of animals and adults primed children. But a mixture of animals did not prime children. The pattern of results was observed for first mention (of people or structure), consistent with the idea that a schema serves to prioritize scene information. A similar pattern was observed for total correct words. An additional finding was that the full reports were quite accurate overall; perception was determined by scene content, not by general expectations. Meeting abstract presented at VSS 2016
Cardiac complications of total parenteral nutrition: the role of two-dimensional echocardiography in diagnosis. (1989)

We report three cardiological complications of total parenteral nutrition in four patients, all of the complications were detected by two-dimensional echocardiography. We discuss these complications and make suggestions as to the role of echocardiography in patients on total parenteral nutrition.
Crystal Structure of Escherichia coli PdxA, an Enzyme Involved in the Pyridoxal Phosphate Biosynthesis Pathway (2003)

Pyridoxal 5'-phosphate is an essential cofactor for many enzymes responsible for the metabolic conversions of amino acids. Two pathways for its de novo synthesis are known. The pathway utilized by Escherichia coli consists of six enzymatic steps catalyzed by six different enzymes. The fourth step is catalyzed by 4-hydroxythreonine-4-phosphate dehydrogenase (PdxA, E.C. 1.1.1.262), which converts 4-hydroxy-l-threonine phosphate (HTP) to 3-amino-2-oxopropyl phosphate. This divalent metal ion-dependent enzyme has a strict requirement for the phosphate ester form of the substrate HTP, but can utilize either NADP+ or NAD+ as redox cofactor. We report the crystal structure of E. coli PdxA and its complex with HTP and Zn2+. The protein forms tightly bound dimers. Each monomer has an alpha/beta/alpha-fold and can be divided into two subdomains. The active site is located at the dimer interface, within a cleft between the two subdomains and involves residues from both monomers. A Zn2+ ion is bound within each active site, coordinated by three conserved histidine residues from both monomers. In addition two conserved amino acids, Asp247 and Asp267, play a role in maintaining integrity of the active site. The substrate is anchored to the enzyme by the interactions of its phospho group and by coordination of the amino and hydroxyl groups by the Zn2+ ion. PdxA is structurally similar to, but limited in sequence similarity with isocitrate dehydrogenase and isopropylmalate dehydrogenase. These structural similarities and the comparison with a NADP-bound isocitrate dehydrogenase suggest that the cofactor binding mode of PdxA is very similar to that of the other two enzymes and that PdxA catalyzes a stepwise oxidative decarboxylation of the substrate HTP.
Comparative evaluation of techniques for the manufacturing of dendritic cell‐based cancer vaccines (2008)

Manufacturing procedures for cellular therapies are continuously improved with particular emphasis on product safety. We previously developed a dendritic cell (DC) cancer vaccine technology platform that uses clinical grade lipopolysaccharide (LPS) and interferon (IFN)-y for the maturation of monocyte derived DCs. DCs are frozen after 6 hrs exposure at a semi-mature stage (smDCs) retaining the capacity to secret interleukin (IL)-12 and thus support cytolytic T-cell responses, which is lost at full maturation. We compared closed systems for monocyte enrichment from leucocyte apheresis products from healthy individuals using plastic adherence, CD14 selection, or CD2/19 depletion with magnetic beads, or counter flow centrifugation (elutriation) using a clinical grade in comparison to a research grade culture medium for the following DC generation. We found that elutriation was superior compared to the other methods showing 36 +/- 4% recovery, which was approximately 5-fold higher as the most frequently used adherence protocol (8 +/- 1%), and a very good purity (92 +/- 5%) of smDCs. Immune phenotype and IL-12 secretion (adherence: 1.4 +/- 0.4; selection: 20 +/- 0.6; depletion: 1 +/-0.5; elutriation: 3.6 +/- 1.5 ng/ml) as well as the potency of all DCs to stimulate T cells in an allogeneic mixed leucocyte reaction did not show statistically significant differences. Research grade and clinical grade DC culture media were equally potent and freezing did not impair the functions of smDCs. Finally, we assessed the functional capacity of DC cancer vaccines manufactured for three patients using this optimized procedure thereby demonstrating the feasibility of manufacturing DC cancer vaccines that secret IL-12 (9.4 +/- 6.4 ng/ml). We conclude that significant steps were taken here towards clinical grade DC cancer vaccine manufacturing.
Editorial Comments (1992)

No AccessJournal of Urology1 Jan 1992Editorial Comments Tom F. Lue Tom F. LueTom F. Lue More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(17)37133-1AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "Editorial Comments." The Journal of Urology, 147(1), p. 61 © 1992 by The American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 147Issue 1January 1992Page: 61 Advertisement Copyright & Permissions© 1992 by The American Urological Association Education and Research, Inc.MetricsAuthor Information Tom F. Lue More articles by this author Expand All Advertisement PDF downloadLoading ...
A Time for MYC: Metabolism and Therapy (2016)

The MYC oncogene is frequently deregulated in human cancers, whereas the proto-oncogene is exquisitely, tightly regulated in normal cells. Deregulated MYC drives transcriptional imbalance, thereby altering metabolism and disrupting the circadian Bmal1-Clock E-box-dependent transcriptional circuitry. Sustained oncogenic MYC expression drives a constitutive growth program with mammalian target of rapamycin (mTOR) activation that renders cells dependent on nutrients, such that glucose or glutamine deprivation could trigger cell death and key enzymes such as lactate dehydrogenase A (LDHA) and glutaminase (GLS) amenable for targeting in cancers. Further, MYC-mediated suppression of the circadian clock is surmised to suspend the inhibitory effect of Bmal1-Clock on metabolism, allowing for MYC-driven cancer cells to reach a higher state of anabolic metabolism. Hence, metabolic therapy could be deployed, particularly at specific times of the day, to diminish side effects to normal tissues while maintaining antitumor efficacy.
Creating Location-Based Services by Utilising a Web of Places (2008)

We present an open, decentralized, participatory system which realizes location-based services by gently extending the existing World Wide Web. Utilizing a geospatial search engine for such a Web of Places, users are able to consume location-based services generated by arbitrary parties using their mobile phones. Special care has been taken in order to foster the creation of places and services and their mobile usage by users. We further discuss that by using ranking algorithms based on place and service definitions, finding services relevant to the current location by searching only by geographic position might be feasible even in case of large numbers of relevant places.
Left ventricular mass predicts cardiac reverse remodelling in patients treated with empagliflozin (2023)

Patients with higher LVMi at baseline experienced greater LVM regression with empagliflozin.
<title>Survey of semiconductor data management systems technology</title> (2000)

As integrated circuit fabrication processes continue to increase in complexity, it has been observed that data collection, retention, and retrieval rates are continuing to increase at an alarming rate. At future technology nodes, the time required to source manufacturing problems must at least remain constant to maintain anticipated productivity. Current commercial and manufacturer in-house data management systems (DMS) have limited functionality in their ability to access, analyze, and intelligently extract information from the large variety of manufacturing data sources available within the semiconductor manufacturing site. It is critical that the semiconductor industry agree on a strategic R&D plan to develop a family of DMS technologies to simultaneously access multiple data sources and derive useful defect and yield information from that data via analysis algorithms. The Oak Ridge National Laboratory (ORNL) and SEMATECH performed an industry-wide survey of semiconductor device manufacturers and the suppliers of data management tools and systems in the Spring of 1999. The purpose of the survey was to determine: (1) the state-of-the-art in DMS technologies and systems; (2) limitations of the systems in use today; (3) technology gaps impacting future DMS development, and; (4) input for future strategic R&D activities. This paper describes the results of this survey and presents a prioritized R&D roadmap.
Subcutaneous temperature profile, skin appearance, and picking efficiency of immersion and spray scalded broiler carcasses (1999)

To compare immersion and spray scalding temperature profiles, thermocouples were positioned beneath the skin of broiler carcasses in eight separate locations. The locations were as follows: 1 and 2) the upper left and right breast, 3 and 4) middle of the left and right thigh, 5 and 6) beneath the left and right wing, 7) the lower back above the pygostyle, and 8) the upper back between the wings. Standard immersion scalding at 52 or 56.5 C for 2 min or a prototype spray scalder at 60, 65, or 70 C for 1 min were used to monitor s.c. temperature during scalding. Immersion scalding resulted in an exponential profile with the lower temperature having less temperature deviation for the monitored locations. Among sampling locations, the spray scald temperatures were divergent among locations and the highest temperatures were recorded when thermocouples were within the spray patterns. As with the immersion scalded carcasses, lower temperatures for the spray scalding demonstrated less deviation among the monitored locations and a closer grouping of the final temperatures. The only spray scald temperature tested at which s.c. temperatures approached those of the immersion scalded carcasses was 70 C. Additional carcasses were scalded, picked, and examined for skin appearance and picking efficiency. All carcasses spray scalded for 60 s had a "cooked appearance" when evaluated. When spray scald times were reduced to 30 s, skin appearance improved, but with the exception of the 70 C trial, picking efficiency was poorer.
Elastase Digests (2008)

Despite many advances in membrane proteomics during the last decade the fundamental problem of accessing the transmembrane regions itself has only been addressed to some extent. The present study establishes a method for the nano-LC-based analysis of complex membrane proteomes on the basis of a methanolic porcine pancreatic elastase digest to increase transmembrane coverage. Halobacterium salinarium purple and Corynebacterium glutamicum membranes were successfully analyzed by using the new protocol. We demonstrated that elastase digests yield a large proportion of transmembrane peptides, facilitating membrane protein identification. The potential for characterization of a membrane protein through full sequence coverage using elastase is there but is restricted to the higher abundance protein components. Compatibility of the work flow with the two most common mass spectrometric ionization techniques, ESI and MALDI, was shown. Currently better results are obtained using ESI mainly because of the low response of MALDI for strictly neutral peptides. New findings concerning elastase specificity in complex protein mixtures reveal a new prospect beyond the application in shotgun experiments. Furthermore peptide mass fingerprinting with less specific enzymes might be done in the near future but requires an adaptation of current search algorithms to the new proteases.