gebhart/patrepeval huggingface dataset:
#4485 CLINICAL CASE OF MOSAICISM IN ADPKD PATIENT (2023)

Abstract Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) it's mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase of the kidneys, responsible for the progressive loss of renal function that leads to chronic kidney disease (CKD) and the need of renal replacement therapy. There are some cases (doubtful, uncertain) in which it is necessary to perform genetic testing to achieve a definitive diagnosis. It looks like in ADPKD patients, mosaicism could modulate the clinical course of the disease. Mosaicism is characterized by few cell populations with different genomes. In these special cases the diagnosis is very difficult and the genetic analysis could be an important and helpful tool. With this report, we want to highlight the importance of the use of several diagnostic methods in those ‘atypical’ cases where otherwise the analysis would have been negative from a first molecular approach. Method A 47 years old woman came to our attention with typical picture of ADPKD, arterial hypertension and chronic kidney disease CKD (3b). She had no ADPKD family history, but since she had a son, genetic testing was performed. According to our workflow, first level analysis includes Next Generation Sequencing (NGS). Second level analysis, performed to investigate other genes and large rearrangement, was based on Multiplex Ligation-dependent Probe Amplification (MLPA) analysis of PKD1 and PKD2 genes, using Salsa MLPA ProbeMix P352 PKD1PKD2 kit and ProbeMix P351 PKD1 kit ©MRC Holland. Results NGS did not detect the presence of any genomic variants. Therefore, second-level genetic analysis (several approaches), showed a large deletion in heterozygosis of the portion comprising the 3-33 exons of PKD1 gene in mosaic in percentage close to the resolution limits of the used technique (25-30%). The same analysis was confirmed in another laboratory. Conclusion We concluded that the identified large deletion, without establishing the real borders due to MLPA technical restrictions, was present as mosaicism. The variant is not reported, but due to the type of mutation and the clinical picture of the patient, it is to be considered as likely pathogenic. A stepwise genetic approach might be useful in those cases where standard methods do not allow to reach a definitive diagnosis.
Origin and control of the subpicosecond pedestal in femtosecond laser systems (2013)

The picosecond time scale pedestal of a multiterawatt femtosecond laser pulse is investigated experimentally and analytically. The origin of the pedestal is related to the finite bandwidth of the laser system. By deliberately introducing a modulated spectrum with minima that match this limited bandwidth, the pedestal can be reduced, with no deleterious effect on the main pulse. Using this technique, we experimentally demonstrate a subpicosecond scale order of magnitude enhancement of contrast ratio while preserving the energy in the main pulse.
Chiral symmetry breaking by spatial confinement in tactoidal droplets of lyotropic chromonic liquid crystals (2011)

In many colloidal systems, an orientationally ordered nematic (N) phase emerges from the isotropic (I) melt in the form of spindle-like birefringent tactoids. In cases studied so far, the tactoids always reveal a mirror-symmetric nonchiral structure, sometimes even when the building units are chiral. We report on chiral symmetry breaking in the nematic tactoids formed in molecularly nonchiral polymer-crowded aqueous solutions of low-molecular weight disodium cromoglycate. The parity is broken by twisted packing of self-assembled molecular aggregates within the tactoids as manifested by the observed optical activity. Fluorescent confocal microscopy reveals that the chiral N tactoids are located at the boundaries of cells. We explain the chirality induction as a replacement of energetically costly splay packing of the aggregates within the curved bipolar tactoidal shape with twisted packing. The effect represents a simple pathway of macroscopic chirality induction in an organic system with no molecular chirality, as the only requirements are orientational order and curved shape of confinement.
Evolution of the performance of automatic speech recognition algorithms in transcribing conversational telephone speech (2002)

Research in the speech recognition speech-to-text conversion area has been underway for a couple of decades, and a great deal of progress has been made in reducing the word error rate. In this paper, we attempt to summarize the state of the art in speech recognition algorithms. The algorithms we describe span the areas of lexicon design, feature extraction, classifier design, combination of hypotheses, and speaker adaptation of acoustic models. We will benchmark the algorithms on two main sources of speech, the first being Voicemail (conversational telephone speech from a single speaker) and the second being Switchboard (conversational telephone speech between two speakers). We also present the results of some cross-domain experiments which highlight the "brittleness" of speech recognition systems today and illustrates the need to focus research effort on improving cross-domain performance.
Prevalent, protective, and convergent IgG recognition of SARS-CoV-2 non-RBD spike epitopes (2021)

The molecular composition and binding epitopes of the immunoglobulin G (IgG) antibodies that circulate in blood plasma following SARS-CoV-2 infection are unknown. Proteomic deconvolution of the IgG repertoire to the spike glycoprotein in convalescent subjects revealed that the response is directed predominantly (>80%) against epitopes residing outside the receptor-binding domain (RBD). In one subject, just four IgG lineages accounted for 93.5% of the response, including an N-terminal domain (NTD)-directed antibody that was protective against lethal viral challenge. Genetic, structural, and functional characterization of a multi-donor class of “public” antibodies revealed an NTD epitope that is recurrently mutated among emerging SARS-CoV-2 variants of concern. These data show that “public” NTD-directed and other non-RBD plasma antibodies are prevalent and have implications for SARS-CoV-2 protection and antibody escape.
Simple Method to Generate Dominant E- and H-Fields Inside a Four-Port TEM Cell (2013)

We propose a simple method to generate dominant E (DE)- or dominant H (DH)-modes, which builds near-field like environments in a four-port transverse electromagnetic (TEM) cell. Each DE or DH mode is intended to present very high or very low impedance values, which remain stable over a wide frequency region of interest. To achieve this, we apply signals, in- or out-of-phase, into ports that are connected to separate septum terminated by matched loads, which guarantees good impedance matching behavior. In addition, our cell also yields enhanced field uniformity in an extended test volume surrounded by the septa. All experimental data show excellent agreement with theoretical prediction, which proves the validity and usefulness of our approach.
Ventricular Flow Field Visualization During Mechanical Circulatory Support in the Assisted Isolated Beating Heart (2019)

Investigations of ventricular flow patterns during mechanical circulatory support are limited to in vitro flow models or in silico simulations, which cannot fully replicate the complex anatomy and contraction of the heart. Therefore, the feasibility of using echocardiographic particle image velocimetry (Echo-PIV) was evaluated in an isolated working heart setup. Porcine hearts were connected to an isolated, working heart setup and a left ventricular assist device (LVAD) was implanted. During different levels of LVAD support (unsupported, partial support, full support), microbubbles were injected and echocardiographic images were acquired. Iterative PIV algorithms were applied to calculate flow fields. The isolated heart setup allowed different hemodynamic situations. In the unsupported heart, diastolic intra-ventricular blood flow was redirected at the heart's apex towards the left ventricular outflow tract (LVOT). With increasing pump speed, large vortex formation was suppressed, and blood flow from the mitral valve directly entered the pump cannula. The maximum velocities in the LVOT were significantly reduced with increasing support. For the first time, cardiac blood flow patterns during LVAD support were visualized and quantified in an ex vivo model using Echo-PIV. The results reveal potential regions of stagnation in the LVOT and, in future the methods might be also used in clinical routine to evaluate intraventricular flow fields during LVAD support.
Scalable Graph Learning for Anti-Money Laundering: A First Look (2018)

Organized crime inflicts human suffering on a genocidal scale: the Mexican drug cartels have murdered 150,000 people since 2006, upwards of 700,000 people per year are "exported" in a human trafficking industry enslaving an estimated 40 million people. These nefarious industries rely on sophisticated money laundering schemes to operate. Despite tremendous resources dedicated to anti-money laundering (AML) only a tiny fraction of illicit activity is prevented. The research community can help. In this brief paper, we map the structural and behavioral dynamics driving the technical challenge. We review AML methods, current and emergent. We provide a first look at scalable graph convolutional neural networks for forensic analysis of financial data, which is massive, dense, and dynamic. We report preliminary experimental results using a large synthetic graph (1M nodes, 9M edges) generated by a data simulator we created called AMLSim. We consider opportunities for high performance efficiency, in terms of computation and memory, and we share results from a simple graph compression experiment. Our results support our working hypothesis that graph deep learning for AML bears great promise in the fight against criminal financial activity.
Crystal structures of two cross-bridged chromium(III) tetraazamacrocycles (2014)

The crystal structure of di-chlorido-(4,10-dimethyl-1,4,7,10-tetra-aza-bicyclo-[5.5.2]tetra-deca-ne)chromium(III) hexa-fluorido-phosphate, [CrCl2(C12H26N4)]PF6, (I), has monoclinic symmetry (space group P21/n) at 150 K. The structure of the related di-chlorido-(4,11-dimethyl-1,4,8,11-tetra-aza-bicyclo-[6.6.2]hexa-deca-ne)chromium(III) hexa-fluorido-phosphate, [CrCl2(C14H30N4)]PF6, (II), also displays monoclinic symmetry (space group P21/c) at 150 K. In each case, the Cr(III) ion is hexa-coordinate with two cis chloride ions and two non-adjacent N atoms bound cis equatorially and the other two non-adjacent N atoms bound trans axially in a cis-V conformation of the macrocycle. The extent of the distortion from the preferred octa-hedral coordination geometry of the Cr(III) ion is determined by the parent macrocycle ring size, with the larger cross-bridged cyclam ring in (II) better able to accommodate this preference and the smaller cross-bridged cyclen ring in (I) requiring more distortion away from octa-hedral geometry.
One-to-one correspondence between nm-resolution channel crystallinity and electrical property of poly-Si TFT revealed by NBD two-dimensional imaging (2017)

We successfully established the direct correspondence between the whole channel crystallinity at nm-scale and electrical property in one and the same poly-Si thin-film transistors (TFTs). A low-damage focused ion beam (FIB) technique was newly developed for preparing site-specific nanobeam diffraction (NBD) specimen of bare channel of the TFT that was electrically evaluated in advance. We applied NBD two-dimensional imaging (2D1) to the whole channel area for acquiring massive diffraction patterns over 30,000 so that both high spatial resolution (3 nm) and large-area measurement (0.5×0.5 μm <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2</sup> ) are achieved. Our NBD-2D1 analysis definitely revealed that drain current in individual TFTs is determined by whether the electrons can travel from the source to the drain without passing through the grain boundaries inside the channel, which cannot be clearly judged by using conventional scanning/ transmission electron microscopy (S/TEM) techniques.
A Versatile Self-Assembly Strategy for the Synthesis of Shape-Selected Colloidal Noble Metal Nanoparticle Heterodimers (2014)

The self-assembly of individual nanoparticles into dimers-so-called heterodimers-is relevant for a broad range of applications, in particular in the vibrant field of nanoplasmonics and nanooptics. In this paper we report the synthesis and characterization of material- and shape-selected nanoparticle heterodimers assembled from individual particles via electrostatic interaction. The versatility of the synthetic strategy is shown by assembling combinations of metal particles of different shapes, sizes, and metal compositions like a gold sphere (90 nm) with either a gold cube (35 nm), gold rhombic dodecahedron (50 nm), palladium truncated cube (120 nm), palladium rhombic dodecahedron (110 nm), palladium octahedron (130 nm), or palladium cubes (25 and 70 nm) as well as a silver sphere (90 nm) with palladium cubes (25 and 70 nm). The obtained heterodimer combinations are characterized by transmission electron microscopy (TEM), scanning electron microscopy (SEM), scanning transmission electron microscopy-energy dispersive X-ray spectroscopy (STEM-EDX), dynamic light scattering (DLS), and zeta-potential measurements. We describe the optimal experimental conditions to achieve the highest yield of heterodimers compared to other aggregates. The experimental results have been rationalized using theoretical modeling. A proof-of-principle experiment where individual Au-Pd heterodimers are exploited for indirect plasmonic sensing of hydrogen finally illustrates the potential of these structures to probe catalytic processes at the single particle level.
Improving Determination Method of Manganese in Water by Periodic Acid (2002)

A determination method of manganese in water was introduced at room temperature.The results showed that the reaction of apparent color could complete in a short time.The color was stable.The accuracy and the veracity can meet the analytical requirements.
Hydrolysis of Dimethyl Methylphosphonate (DMMP) in Hot-Compressed Water (2020)

Dimethyl methylphosphonate (DMMP) is widely used as a chemical surrogate for G- and V-type nerve agents, exhibiting similar physiochemical properties, yet significantly lower toxicity. Continuous hydrolysis of DMMP in hot-compressed water is performed at temperatures from 200 to 300 °C, pressures of 20 and 30 MPa, and residence times from 30 to 80 s to evaluate the effects of pressure and temperature on reaction kinetics. DMMP hydrolysis is observed to follow pseudo-first-order reaction behavior, producing methylphosphonic acid and methanol as the only detectable reaction products. This is significant for the practical implementation of a continuous hydrothermal reactor for chemical warfare agent neutralization, as the process only yields stable, less-toxic compounds. Pressure has no discernible effect on the hydrolysis rate in compressed liquid water. Pseudo-first-order Arrhenius parameters are determined, with an activation energy of 90.17±5.68 kJ mol-1 and a pre-exponential factor of 107.51±0.58 s-1.
Localization of B-Cell Stimulatory Activity of HIV-1 to the Carboxyl Terminus of gp41 (1990)

Patients with AIDS are known to have B-cell hyperactivity. We have previously demonstrated that an extract of HIV-1 could induce differentiation of peripheral blood B lymphocytes of healthy volunteers into immunoglobulin-secreting cells. In an attempt to delineate the B-cell stimulatory subregion in HIV-1, we have investigated the influences of native glycoproteins and recombinant proteins of the envelope. The complete envelope glycoprotein, gp160 and a recombinant protein in the carboxyl terminal region of gp41 termed PE-8 were effective in inducing terminal differentiation of normal peripheral blood B lymphocytes and did so in a T-lymphocyte-dependent manner. The activity was not present in the native exterior envelope glycoprotein, gp120 and several other recombinant proteins, viz PE-2 an PE-3, which are in the amino terminal region of gp120 or in env-9, a protein in the junctional region of gp120 and gp41. Polyclonal and monoclonal antibodies directed to diverse regions of the envelope abrogated the influence of gp160. The PE-8-induced B-cell differentiation was abrogated by goat anti-gp160 antibody but not by goat anti-gp120 antibody or monoclonal antibody to the amino terminal of gp41. These studies suggest that a putative polyclonal B-cell stimulatory epitope of HIV-1 is located in the carboxyl end of the envelope glycoprotein.
An Electron Beam Method for Measuring High Sheet Resistances of Thin Films (1970)

Measurement of sheet resistances of high resistance (up to 1016 Ω/□) thin films using conventional methods is both difficult and subject to error. We have developed a method for making sheet resistance measurements in which a low velocity electron beam is used to inject charge into the film. The injected charge drifts under the influence of its self-induced field to metal electrodes evaporated on the film, where it is collected and measured externally as a time dependent current. We give examples of thin GaAs films for which the measured current can be fit with a current predicted by a simple model over many orders of magnitude by adjusting only one parameter, the sheet resistance of the film. The good agreement between experimental and theoretical currents provides reliable values for the sheet resistance. This allows an estimation of a lower limit on the carrier density native to our GaAs films.
Fabrication of three-dimensional microstructures by electrochemically welding structures formed by microcontact printing on planar and curved substrates (1998)

This paper describes two convenient techniques for the fabrication of three-dimensional (3-D) structures with micron-sized features. The methods use microcontact printing (/spl mu/CP) to define patterns with feature sizes as small as 20 /spl mu/m both on planar substrates and on cylinders (diameter /spl sim/2 mm). Electrodeposition serves as a micron-scale tool for metal deposition and welding that transforms these patterned surfaces and cylinders into metallic complex 3-D microstructures (e.g., tetrahedra). Final tetrahedra (/spl sim/2-cm sides) have feature sizes as small as 50 /spl mu/m.
ChemInform Abstract: Strategy and Tactics in Combinatorial Organic Synthesis. Applications to Drug Discovery (1996)

Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
Prototype implementations for a universal remote console specification (2002)

A 'Universal Remote Console' (URC) is a personal device that can be used to control any electronic and information technology device (target device/service), such as thermostats, TVs, or copy machines. The URC renders the user interface (UI) of the target device in a way that accommodates the user's preferences and abilities. This paper introduces the efforts of user groups, industry, government and academia to develop a standard for 'Alternate Interface Access' within the V2 technical committee of the National Committee for Information Technology Standards (NCITS). Some preliminary design aspects of the standard in work are discussed shortly.
In situ Generation of Et3SiBr from BiBr3 and Et3SiH and Its Use in Preparation of Dialkyl Ethers. (2002)

Abstract For Abstract see ChemInform Abstract in Full Text.
The Planetary System: Executable Science, Technology, Engineering and Math Papers (2011)

Executable scientific papers contain not just layouted text for reading. They contain, or link to, machine-comprehensible representations of the scientific findings or experiments they describe. Client-side players can thus enable readers to "check, manipulate and explore the result space". We have realized executable papers in the STEM domain with the Planetary system. Semantic annotations associate the papers with a content commons holding the background ontology, the annotations are exposed as Linked Data, and a frontend player application hooks modular interactive services into the semantic annotations.
ChemInform Abstract: C2‐Symmetric Chiral Bis(oxazoline)—Metal Complexes in Catalytic Asymmetric Synthesis (1998)

Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
Multitask machine learning of collective variables for enhanced sampling of rare events (2020)

Computing accurate reaction rates is a central challenge in computational chemistry and biology because of the high cost of free energy estimation with unbiased molecular dynamics. In this work, a data-driven machine learning algorithm is devised to learn collective variables with a multitask neural network, where a common upstream part reduces the high dimensionality of atomic configurations to a low dimensional latent space, and separate downstream parts map the latent space to predictions of basin class labels and potential energies. The resulting latent space is shown to be an effective low-dimensional representation, capturing the reaction progress and guiding effective umbrella sampling to obtain accurate free energy landscapes. This approach is successfully applied to model systems including a 5D Müller Brown model, a 5D three-well model, and alanine dipeptide in vacuum. This approach enables automated dimensionality reduction for energy controlled reactions in complex systems, offers a unified framework that can be trained with limited data, and outperforms single-task learning approaches, including autoencoders.
PET-measured longitudinal flow gradient correlates with invasive fractional flow reserve in CAD patients (2016)

The observed close correlation between a longitudinal MBF gradient during hyperaemic flows and invasively measured FFR suggests the longitudinal flow gradient as an emerging non-invasive index of flow-limiting CAD.
New approaches to the processing of rutile‐filled polyolefins (1990)

Abstract The performance of a fluorocarbon elastomer processing additive in rutile‐filled linear low density polyethylene (LLDPE) compounds was evaluated by capillary rheometry, and blown film extrusion. Different compounding sequences were considered and their effects on the performance of the processing additive in the presence of various rutiles examined. Lower apparent melt viscosities and higher shear rates for the onset of melt fracture were observed when using certain surface treated rutiles. The nature of the surface coating applied to rutiles was found to have a great influence on the Theological properties of the filled compounds and on the dispersibility of the solids. The acid‐base characteristics of rutiles were determined by inverse gas chromatography techniques, and inherent agglomeration indexes for the pigments were measured by an application of powder rheology principles. It was found that those rutiles with high agglomeration indexes or those with highly basic surfaces interfered the most with the processing additive. Mechanisms by which rutile dispersibility and acid‐base character influence the effectiveness of the fluorocarbon elastomer processing additive are discussed.