gebhart/patrepeval huggingface dataset:
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series (2014)

Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients. In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.
Quantitative Measurements of Memory Effects in Wideband RF Power Amplifiers Driven by Modulated Signals (2007)

This letter proposes a novel metric to measure quantitatively the electrical memory effects in wideband power amplifiers (PAs) fed with modulated signals. With the proposed memory effect metrics, the intensity of the electrical memory effects for different PAs, under a variety of the excitation modulated signals, can be quantitatively defined. The examples given in this letter illustrate the effectiveness of this definition in measuring the electrical memory effects
A multi-level converter for high power-high frequency IPT systems (2014)

This paper presents a low cost MOSFET-IGBT multi-level converter that is suitable for high power and high frequency IPT systems. The proposed converter with reduced number of switches can be employed on the primary side of IPT systems to generate high track currents that are necessary for high power applications. Simulated results are presented under various operating conditions, investigating the performance of the converter in comparison to a typical H-bridge topology. Results clearly indicate that stress levels of switches are low and the proposed converter produces quality waveforms at reduced switching losses and harmonic distortions.
Effects of Substrate Temperature on Magnetic Properties of Iron Nitride Thin Films Prepared by Ion Assisted Vapor Deposition (1989)

The structure and magnetic properties of iron nitride thin films were examined with the substrate temperature as a parameter. The coercivity and squareness ratio decreased with increasing substrate temperature, while the saturation magnetization remained constant. SEM observations revealed that the columnar growth deteriorated at high substrate temperatures. Mössbauer measurements indicated that films consisted of γ'-Fe <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">4</sub> N, ε-Fe <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2-3</sub> N and ζ-Fe <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2</sub> N, and that the concentrations of these components were nearly independent of the substrate temperature. Domain replacement was found to be dominant in films prepared at higher substrate temperatures, which implies a change in the paramagnetic distribution. These results suggest that the decrease in coercivity could be attributed to a reduction in the shape anisotropy due to the disordered growth of columns and to a decreased magnetic separation effect by paramagnetic phases in individual columns.
<title>Novel guided-wave thermo-optic beam deflector</title> (2000)

A novel approach for laser beam deflection using the thermal optic prism array in a polymeric planar waveguide is developed. This approach is based on the different thermo- optic properties between polymer and silica, the two optical materials employed for the guided wave beam deflector. A waveguide structure with the core layer composed of inversely positioned polymer and silica triangles forming a polymer/silica prism array has been fabricated. Through electrical heating, a temperature change results in an index difference between the two optical materials and creates an optical prism structure in the polymer/silica planar waveguide. A beam deflection of 5.4 degree was observed under a temperature change of 60 degrees C in the fabricated prism array. The sensitivity of the device is 0.09 degrees/degrees C. A maximal number of resolvable spots of 8 was achieved at a low driving power from the thermo-optic prism array structure. The accuracy of beam deflection approaches 16 micro-radian. The device fabricated has a thickness of 5 microns, a prism aperture width of 600 microns, and a device length of 7 mm. Optimal design to maximize the deflection angle and the number of resolvable spots has been evaluated.
Phase I Study of the Intravenous Administration of Attenuated Salmonella typhimurium to Patients With Metastatic Melanoma (2002)

The VNP20009 strain of Salmonella typhimurium can be safely administered to patients, and at the highest tolerated dose, some tumor colonization was observed. No antitumor effects were seen, and additional studies are required to reduce dose-related toxicity and improve tumor localization.
Metallurgy of high-silicon steel parts produced using Selective Laser Melting (2016)

The metallurgy of high-silicon steel (6.9%wt.Si) processed using Selective Laser Melting (SLM) is presented for the first time in this study. High-silicon steel has great potential as a soft magnetic alloy, but its employment has been limited due to its poor workability. The effect of SLM-processing on the metallurgy of the alloy is investigated in this work using microscopy, X-Ray Diffraction (XRD) and Electron Backscatter Diffraction (EBSD). XRD analysis suggests that the SLM high-silicon steel is a single ferritic phase (solid solution), with no sign of phase ordering. This is expected to have beneficial effects on the material properties, since ordering has been shown to make silicon steels more brittle and electrically conductive. For near-fully dense samples, columnar grains with a high aspect ratio and oriented along the build direction are found. Most importantly, a <001> fibre-texture along the build direction can be changed into a cube-texture when the qualitative shape of the melt-pool is altered (from shallow to deep) by increasing the energy input of the scanning laser. This feature could potentially open the path to the manufacture of three-dimensional grain-oriented high-silicon steels for electromechanical applications.
Interpretation of the electronic spectra of low-spin d6 M(CO)5X complexes. Primary excited state decay paths in Re(CO)5X complexes (1976)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTInterpretation of the electronic spectra of low-spin d6 M(CO)5X complexes. Primary excited state decay paths in Re(CO)5X complexesMark S. Wrighton, David L. Morse, Harry B. Gray, and David K. OttesenCite this: J. Am. Chem. Soc. 1976, 98, 5, 1111–1119Publication Date (Print):March 1, 1976Publication History Published online1 May 2002Published inissue 1 March 1976https://pubs.acs.org/doi/10.1021/ja00421a011https://doi.org/10.1021/ja00421a011research-articleACS PublicationsRequest reuse permissionsArticle Views301Altmetric-Citations55LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Data-Driven Automated Cardiac Health Management with Robust Edge Analytics and De-Risking (2019)

Remote and automated healthcare management has shown the prospective to significantly impact the future of human prognosis rate. Internet of Things (IoT) enables the development and implementation ecosystem to cater the need of large number of relevant stakeholders. In this paper, we consider the cardiac health management system to demonstrate that data-driven techniques produce substantial performance merits in terms of clinical efficacy by employing robust machine learning methods with relevant and selected signal processing features. We consider phonocardiogram (PCG) or heart sound as the exemplary physiological signal. PCG carries substantial cardiac health signature to establish our claim of data-centric superior clinical utility. Our method demonstrates close to 85% accuracy on publicly available MIT-Physionet PCG datasets and outperform relevant state-of-the-art algorithm. Due to its simpler computational architecture of shallow classifier with just three features, the proposed analytics method is performed at edge gateway. However, it is to be noted that healthcare analytics deal with number of sensitive data and subsequent inferences, which need privacy protection. Additionally, the problem of healthcare data privacy prevention is addressed by de-risking of sensitive data management using differential privacy, such that controlled privacy protection on sensitive healthcare data can be enabled. When a user sets for privacy protection, appropriate privacy preservation is guaranteed for defense against privacy-breaching knowledge mining attacks. In this era of IoT and machine intelligence, this work is of practical importance, which enables on-demand automated screening of cardiac health under minimizing the privacy breaching risk.
Optical transparency, thermal resistance, intermolecular interaction, and mechanical properties of poly(styrene‐butadiene‐styrene) copolymer‐based thermoplastic elastomers (2009)

Abstract The optical transparency, thermal resistance, intermolecular interaction, and mechanical properties of poly(styrene‐block‐butadiene‐block‐styrene) (SBS), which were modified by blending with crystalline polypropylene (PP) or amorphous polystyrene (PS), were analyzed. The dynamic mechanical test indicated that the PP exhibited an intermolecular interaction with SBS and PS was compatible with SBS. The optical properties indicated that the direction of the light was changed due to the difference between the refractive indices of SBS and the added modifiers. Additionally, refraction and reflection occurred at the interface, reducing the transparency of SBS. The thermal resistance of SBS clearly improved upon modification by the addition of crystalline PP polymer. The thermal treatment increased the tensile strength and the elongation at breakage of modified SBS by reducing the internal stress, which was generated during the blending process. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Targeting Proteins to the Lumen of Endoplasmic Reticulum Using N-terminal Domains of 11β-Hydroxysteroid Dehydrogenase and the 50-kDa Esterase (1999)

Previous studies identified two intrinsic endoplasmic reticulum (ER) proteins, 11beta-hydroxysteroid dehydrogenase, isozyme 1 (11beta-HSD) and the 50-kDa esterase (E3), sharing some amino acid sequence motifs in their N-terminal transmembrane (TM) domains. Both are type II membrane proteins with the C terminus projecting into the lumen of the ER. This finding implied that the N-terminal TM domains of 11beta-HSD and E3 may constitute a lumenal targeting signal (LTS). To investigate this hypothesis we created chimeric fusions using the putative targeting sequences and the reporter gene, Aequorea victoria green fluorescent protein. Transfected COS cells expressing LTS-green fluorescent protein chimeras were examined by fluorescent microscopy and electron microscopic immunogold labeling. The orientation of expressed chimeras was established by immunocytofluorescent staining of selectively permeabilized COS cells. In addition, protease protection assays of membranes in the presence and absence of detergents was used to confirm lumenal or the cytosolic orientation of the constructed chimeras. To investigate the general applicability of the proposed LTS, we fused the N terminus of E3 to the N terminus of the NADH-cytochrome b5 reductase lacking the myristoyl group and N-terminal 30-residue membrane anchor. The orientation of the cytochrome b5 reductase was reversed, from cytosolic to lumenal projection of the active domain. These observations establish that an amino acid sequence consisting of short basic or neutral residues at the N terminus, followed by a specific array of hydrophobic residues terminating with acidic residues, is sufficient for lumenal targeting of single-pass proteins that are structurally and functionally unrelated.
Lanthanide doped ZnS quantum dots dispersed in silica glasses: an easy one pot sol–gel synthesis for obtaining novel photonic materials (2008)

Silica glasses containing both ZnS quantum dots (QDs) and luminescent lanthanide ions are attractive candidates to develop new lighting displays, sensor devices or laser emitters. This work reports an easy sol–gel method to prepare Eu3+-doped and Eu3+,Mn2+-codoped ZnS nanocrystals dispersed in a transparent silica matrix. Semiconductor nanocrystals with an average size of 5–6 nm and exhibiting both cubic and hexagonal phases were obtained at low temperature. The luminescent interactions between ZnS QDs, Eu3+ and Mn2+ ions provided materials with different optical responses but also gave information about the organization of the different species in the nanocomposite. Indeed, Eu ions were found to be both dispersed within the silica and located at the surface of the nanochalcogenide, the latter providing a ZnS → Eu3+ energy transfer. Incorporation of Mn2+ into the ZnS lattice induced the appearance of defect states that enhance the blue luminescence of the nanocomposite. These results underline the sensitivity of optical processes to the nature and organization of the active species, which is of vital importance for the design of photonic materials.
Abstract IA22: The unsuspected role of gut microbiota in cancer therapies: Antigen mimicry between intestinal phage and tumor antigens (2020)

Abstract We recently highlighted the crucial role of gut microbiota in eliciting innate and adaptive immune responses beneficial for the host in the context of effective therapies against cancer. Chemotherapeutic agents facilitate the gut permeability and selective translocation of gram-positive bacteria in secondary lymphoid organs. There, anticommensal pathogenic TH17 T-cell responses are primed, facilitating the accumulation of TH1 helper T cells in tumor beds post-chemotherapy as well as tumor regression (Viaud, Science 2013). These findings have been extended to platinum salts as well as to a combination of anti-IL-10R mAb+CpG (Iida et al., Science 2013 Nov). The immune checkpoint blockers (ICB) anti-CTLA4 Ab and anti-PD1/PD-L1 Ab are first-in-class compounds approved for reinstating cancer immunosurveillance and prolonging survival in metastatic patients. Zitvogel’s group showed that antibiotics compromise the efficacy of these ICB in mice and patients and unveiled the immunomodulatory role of distinct commensals from the intestinal ecosystem in mobilizing anticancer immunosurveillance. Vétizou et al. showed that the antitumor effects of CTLA4 blockade, largely dependent upon Toll-like receptor (TLR)2/TLR4 receptors, markedly rely on the regulatory commensal Bacteroides fragilis (in coordination with Burkholderia cenocepacia; Science 2015 Nov). Next, the demonstration of the deleterious role of antibiotics in the clinical efficacy of PD-1 blockade in lung, kidney, and bladder cancer patients was brought up, highlighting the role of Akkermansia muciniphila as the main player in the immunomodulatory effects of pembrolizumab or nivolumab (Routy et al., Science 2017 Nov 2). The mechanisms by which distinct microbes restoring gut dysbiosis can mediate antitumor effects will be uncovered, including the demonstration of antigen mimicry between intestinal phages and tumor antigens. From these findings, we infer that oncomicrobiotics and/or fecal microbial transplantation could be considered as adjuvants to the current oncologic armamentarium in dysbiotic cancer bearers. Citation Format: Laurence Zitvogel. The unsuspected role of gut microbiota in cancer therapies: Antigen mimicry between intestinal phage and tumor antigens [abstract]. In: Proceedings of the AACR Special Conference on Tumor Immunology and Immunotherapy; 2019 Nov 17-20; Boston, MA. Philadelphia (PA): AACR; Cancer Immunol Res 2020;8(3 Suppl):Abstract nr IA22.
Chemistry of oxaziridines. 14. Asymmetric oxidation of ketone enolates using enantiomerically pure (camphorylsulfonyl)oxaziridine (1990)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTChemistry of oxaziridines. 14. Asymmetric oxidation of ketone enolates using enantiomerically pure (camphorylsulfonyl)oxaziridineFranklin A. Davis, Aurelia C. Sheppard, Bang Chi Chen, and M. Serajul HaqueCite this: J. Am. Chem. Soc. 1990, 112, 18, 6679–6690Publication Date (Print):August 1, 1990Publication History Published online1 May 2002Published inissue 1 August 1990https://doi.org/10.1021/ja00174a035RIGHTS & PERMISSIONSArticle Views2681Altmetric-Citations125LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InReddit PDF (2 MB) Get e-Alerts Get e-Alerts
The combining site of the dinitrophenyl-binding immunoglobulin A myeloma protein MOPC 315 (1977)

Magnetic-resonance techniques are used to refine the model of the combining site of the Fv fragment of the dinitrophenyl-binding mouse myeloma protein MOPC 315 constructed by Padlan, Davies, Pecht, Givol & Wright (1976) (Cold Spring Harbor Symp. Quant. Biol.41, in the press). Light-absorption studies indicate a dinitrophenyl-tryptophan interaction in the Fv fragment of the type occurring in free solution. The Dnp-aspartate-tryptophan complex is therefore used as a starting point for the n.m.r. (nuclear-magnetic-resonance) analysis of the dinitrophenyl-Fv fragment interaction. Ring-current calculations are used to determine the geometry of the complex. The specificity of complex-formation between dinitrophenyl and tryptophan is confirmed by the lack of ring-current shifts of the dinitrophenyl resonances when tryptophan is replaced by any other aromatic amino acid. Proton n.m.r. difference spectra (at 270MHz), resulting from the addition of a variety of haptens to the Fv fragment, show that the combining site is highly aromatic in nature. Calculations on the basis of ring-current shifts define the geometry of the combining site, which involves a dinitrophenyl ring in van der Waals contact with four aromatic amino acid residues on the protein. The observation of a nuclear Overhauser effect on the H((3)) resonance of the dinitrophenyl ring provides additional constraints on the relative geometry of the H((3)) proton and an aromatic amino acid residue on the Fv fragment. The specificity of the Fv fragment for dinitrophenyl ligands arises from a stacking interaction of the dinitrophenyl ring with tryptophan-93(L), in an ;aromatic box' of essentially tryptophan-93(L), phenylalanine-34(H) and tyrosine-34(L); asparagine-36(L) and tyrosine-34(L) also contribute by forming hydrogen bonds with the nitro groups on the dinitrophenyl ring. The n.m.r. results also confirm that the antibody-hapten reaction may be visualized as a single encounter step. An Appendix shows the method of calculation of ring currents for the four aromatic amino acids and their use in calculating structures.
A TLP Solution for 8000 Ft Water Depth (2010)

A Tension Leg Platform (TLP) solution is proposed for dry tree applications in ultra-deep water depths (∼8000 ft). Major challenges for a TLP associated with the ultra deep environment are addressed with an innovative air spring – mass vibration absorber (VAB) system introduced by SBM Atlantia. The tendon system for the TLP therefore is able to scale essentially linearly with the water depth, instead of quadratically for a conventional TLP. This paper details the integrated platform design issues, including the hull, tendon design and the coupled motion analysis approach. It also discusses the system weight and dimension scales for typical applications and the constructability in terms of their upper bound limits compared with existing platforms. A design example is presented for the offshore Brazil Santos Basin environment at 8000 ft water depth with consistent current and relatively large fatigue sea states.
The changes and relationship of social anxiety symptoms, positive and negative self-views during cognitive behavior group therapy for social anxiety disorder (2018)

본 연구는 사회불안장애가 있는 사람들을 대상으로 인지행동집단치료를 시행하고, 긍정적, 부정적 자기상의 변화 양상, 자기상과 사회불안 증상과의 관계, 긍정적, 부정적 자기상 사이의 관계를 확인하기 위해 시행하였다. 연구대상은 모두 40명으로 구조화된 면접을 통해 사회불안장애로 진단된 사람들로 선발하였다. 사회불안 증상 및 긍정적, 부정적 자기상은 치료 전, 4회기 후, 8회기 후, 치료 후에 측정하였다. 연구 결과, 인지행동집단치료 동안 사회불안 증상, 부정적 자기상은 유의하게 감소하였으며, 긍정적 자기상은 유의하게 증가하였다. 부정적 자기상은 치료 초반 크게 감소하는 형태였으며, 긍정적 자기상은 치료 후반 증가하는 형태였다. 또한 치료 동안의 부정적 자기상의 감소는 사회불안 증상 감소와 유의한 상관이 있었으나, 긍정적 자기상의 증가는 사회불안 증상 감소와 유의한 상관은 발견되지 않았다. 이에 더해, 치료 전반부의 부정적 자기상의 감소는 치료 후반부의 긍정적 자기상의 증가와 유의한 관계가 발견되지 않았다. 이 결과에 대한 시사점을 논의하고 추후 연구에 대한 제언을 제시하였다.
Multiplicative noise and homoclinic crossing: Chaos (1990)

We consider here the effect of noise on homoclinic crossing. It is shown, by means of a stochastic Melnikov function, that the noise may, on the average, suppress and, in the case considered here, induce homoclinic crossing.