gebhart/patrepeval huggingface dataset:
Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies (2011)

The approach presented here allows for the first time a comprehensive genetic screening in patients with hereditary DCM or HCM in a fast and cost-efficient manner.
Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future (2019)

The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to understand the cancer risk associated with several genes included in the panels. Although the research on understanding the cancer risk associated with mutations in several genes continues, there is also a need to understand the modifying effects of race and ethnicity, family history, and BC pathology on the prevalence of germline mutations and associated BC risk. Furthermore, polygenic risk scores (PRSs) to predict BC risk in patients with or without germline mutations in cancer-predisposition genes are now available for clinical use, although data on the clinical utility of PRSs are lacking. In patients with advanced BC associated with <i>BRCA1/2</i> mutation, olaparib and talazoparib are now approved for treatment. In addition, molecular profiling studies are being used to clarify the BC tumor biology in mutation carriers to identify potential therapeutic options. In this article, we discuss these advances in the field of germline genetic testing and highlight current limitations and implications for clinical care.
176. Polyhalogeno-allenes. Part I. Tetrafluoroallene, its dimer, and the reaction of the dimer with trifluoronitrosomethane (1965)

R. E. Banks, R. N. Haszeldine and D. R. Taylor, J. Chem. Soc., 1965, 978 DOI: 10.1039/JR9650000978
Introduction to electronic warfare (1982)

The paper discusses the overall concept of electronic warfare (EW) and defines its three main subsets: electronic support measures (ESM), electronic countermeasures (ECM) and electronic counter-countermeasures (ECCM). The requirements for ESM receivers are reviewed in the context of two specific scenarios: that of intelligence gathering for communications and radar. The different current ESM receiver designs for measuring the presence and frequency of pulsed radar signals, i.e. crystal video, instantaneous-frequency measurement (IFM) and scanning superheterodyne, are described and compared to show their capabilities. Specific ESM receiver equipments for identifying bearing and frequency information are discussed for both the communications and radar scenarios. In comparison, the significance of the new receiver architectures based on surface-acoustic-wave (SAW) channelised, compressive and acousto-optic Bragg cells are also discussed, illustrating their enhanced multiple-signal capability. The paper subsequently discusses active and passive EW techniques such as the use of jamming and chaff and the importance of integrating the ESM receiver and active ECM function into a single equipment. Finally, the paper reports on the use of ECCM coding techniques to retain use of the spectrum when jammers are present in radar and communications systems. The use of adaptive signal processing for cancelling out wide- and narrowband interference is also demonstrated. This outlines the relative significance and areas of application for adaptive antennas, based on fully phased arrays and coherent sidelobe cancellers.
Bactericidal effect of different laser systems in the deep layers of dentin (2004)

The present study demonstrates that all the wavelengths investigated are suitable for the disinfection of even the deeper layers of dentin and may prove to constitute valuable tools in state-of-the-art endodontics.
Frequency of nocturnal symptoms in asthmatic children attending a hospital out-patient clinic (1995)

Since nocturnal symptoms indicate more severe asthma, we investigated their frequency in a hospital-based population of asthmatic children. Recognition of these symptoms offers the possibility to introduce appropriate treatment. We studied 796 consecutive children with asthma (mean (SD) age 9 (4) yrs) attending a hospital clinic, to determine whether these nocturnal symptoms predicted that daytime activities would be affected, and also the patients' perception of disease severity. At the end of a regular out-patient clinic visit, the answers to seven different questions concerning nocturnal symptoms in the previous 3 weeks were recorded. The forced expiratory volume in one second (FEV1) was > or = 90% predicted in 98% of the population that was able to perform lung function measurements (72% of the total population). In 38% of the patients with nocturnal symptoms, these symptoms were reported spontaneously. When asked for, nocturnal symptoms were reported by 47% of the children; 6% every night and 34% at least once a week. Cough was the most frequently reported symptom (31%). Children with nocturnal symptoms had a lower FEV1, scored their perception of asthma as more severe, and had their daytime activities affected more than those without nocturnal symptoms. Doctors should specifically ask about nocturnal symptoms, as not all patients with nocturnal symptoms report them spontaneously and they predict more severe disease.
Tryptophan N 1-Alkylation: Quick and Simple Access to Diversely Substituted Tryptophans (2021)

Abstract The diversification of amino acid sidechains is a major challenge in the synthesis and derivatization of peptides for pharmaceutical applications. We herein present a new protocol to alkylate the indole-nitrogen (N1) of N α-protected tryptophans. This method provides quick and epimerization-free access to tryptophan derivatives, which can directly be incorporated into peptides. Depending on the functionalities introduced in the side chain, different options for the late-stage modification of peptides are possible.
The cathodic cleavage of the 4-nitrobenzyloxycarbonyl group from amine derivatives in aprotic conditions (1988)

The cathodic cleavage of the 4-nitrobenzyloxycarbonyl group from the urethane derivatives of four amines, two primary and two secondary, in dimethylformamide is reported. It is shown by cyclic voltammetry that the derivatives are reduced in several steps. The first occurs at about –1.1 V vs. s.c.e. and on the timescale of cyclic voltammetry is a reversible 1 e process. On the timescale of several minutes, however, the anion radicals are unstable and cleavage of the 4-nitrobenzylcarbonyl group occurs. Coulometry then shows the reduction to be a 2e process and free amines are isolated in above 80% yields. Hence reduction at –1.2 V in aprotic conditions seems to be the basis of a straightforward procedure for the removal of 4-nitrobenzyloxycarbonyl group and this increases the scope for the use of this protecting group in the synthesis of large molecules. The influence of proton donors on the reduction of the urethane derivatives is also discussed.
An industry view of industry/academic research collaboration (2012)

Collaboration between industry and institutions of higher learning has historically been at the center of fundamental advancement in a wide variety of technologies. These partnerships have traditionally formed between closely located participants. Collaborations can now take place on a global scale. The fundamental requirements for these collaborations though have not changed. Personal relationships and clear communication of the objectives are still required for successful partnerships. Industry brings a deep understanding of market problems and a means to commercialize discovery. Academia provides deep technical knowledge and novel approaches (often cross-discipline) to problem solving. A review of the framework and best practices and some historical insights are presented to build the case for industry<;>;academic collaboration at a personal level and with a focus on solving problems that benefit both parties. Examples are used to highlight this approach.
Light Random Regression Forests for Automatic, Multi-Organ Localization in CT Images (2017)

International audience
Levofloxacin-Based Triple Therapy versus Bismuth-Based Quadruple Therapy for Persistent Helicobacter pylori Infection: A Meta-Analysis. CME (2006)

A 10-day course levofloxacin triple therapy is more effective and better tolerated than 7-day bismuth-based quadruple therapy in the treatment of persistent H. pylori infection.
Cleaner Recycling of Spent Lead-Acid Battery Paste and Co-Treatment of Pyrite Cinder via a Reductive Sulfur-Fixing Method for Valuable Metal Recovery and Sulfur Conservation (2019)

This study proposes a cleaner lead-acid battery (LAB) paste and pyrite cinder (PyC) recycling method without excessive generation of SO2. PyCs were employed as sulfur-fixing reagents to conserve sulfur as condensed sulfides, which prevented SO2 emissions. In this work, the phase transformation mechanisms in a PbSO4-Na2CO3-Fe3O4-C reaction system were studied in detail. Furthermore, the co-treatment of spent LAB and PyCs was conducted to determine the optimal recycling conditions and to detect the influences of different processing parameters on lead recovery and sulfur fixation. In addition, a bench-scale experiment was carried out to confirm the feasibility and reliability of this novel process. The results reveal that the products were separated into three distinct layers: slag, ferrous matte, and crude lead. 98.3% of lead and 99% of silver in the feed materials were directly enriched in crude lead. Crude lead with purity of more than 98 wt.% (weight percent) was obtained by a one-step extraction. Lead contents in the produced matte and slag were below 2.7 wt.% and 0.6 wt.%, respectively. At the same time, 99.2% total sulfur was fixed and recovered.
Physico-Chemical Factors Affecting Hydrothermal Resistance and Bonding of Polymeric Composites to Steel Surfaces (1985)

The failure upon exposure to hydrothermal conditions of most conventional polymers containing functional groups in which any two atoms selected from N, O, and S are joined to the same carbon atom, is generally due to 1) high segmental mobility of molecular chains, 2) low thermal relaxation of the polymers, 3) an increase in hydrophilic groups, and 4) low dynamic mechanical properties. Each of these factors must be considered in attempting to provide the total protection needed for long service life in hydrothermal environments. Therefore, the physico-chemical factors that determine the hydrothermal stability and the bonding characteristics of inorganic macromolecule-ionomer composite films have been investigated. Contents include: Self-Healing Type Methylmethacrylate Composite Coatings; Nature of Interfacial Interactions Between Polymers and Phosphate-Treated Metal Surfaces; and Characteristics of Polyelectrolyte-Modified Zinc Phosphate Conversion Precoatings. Keywords: Stiffness; Adhesion; Cold Rolled Carbon Steel.
Le vieillissement thermo-oxydant des polymères est-il modélisable ? (2011)

On a longtemps supposé que la modélisation cinétique du vieillissement des polymères en vue d’une prédiction non empirique de durée de vie était hors de portée pour deux raisons : l’hyper-complexité des mécanismes et l’hétérogénéité des réactions. Les arguments relatifs à ces deux aspects font ici l’objet d’un examen critique. La conclusion est que, grâce aux avancées récentes, en particulier à l’introduction de méthodes numériques, la modélisation est possible dans un certain nombre de cas importants sur le plan industriel.
A practical system for laser pointer interaction on large displays (2005)

Much work has been done on the development of laser pointers as interaction devices. Typically a camera captures images of a display surface and extracts a laser pointer dot location. This location is processed and used as a cursor position. While the current literature well explains such a system, we feel that some important practical concerns have gone unaddressed. We discuss the design of such a tracking system, focusing on key practical implementation details. In particular we present a robust and efficient dot detection algorithm that allows us to use our system under a variety lighting conditions, and allows us to reduce the amount of image parsing required to find a laser position by an order of magnitude.
Deterministic Replay Debugging of IEC 61131-3 SoftPLC programs (2010)

Determimstic Replay Debugging is an approach to finding field failures in application runs. It records an application run so that it can be replayed deterministically in a development system for debugging purposes without connection to a physical environment. In this paper, we present a solution for deterministic replay debugging of hard real-time SoftPLC applications written in the IEC 61131-3 languages. By taking advantage of the special properties of these programs and by careful engineering, our technique allows recording a SoftPLC application run with minimal overhead and obeying real-time constraints. In later phases, which are off-line, the original program run is reconstructed to be replayed for debugging. We present the conceptual basis of our approach, a tool chain including a time-traveling debugger, and an evaluation as well as an industrial case study for validating the approach.
The Product of glnL Is Not Essential for Regulation of Bacterial Nitrogen Assimilation (1983)

The glnL product is not necessary for the control of expression of glnA and other nitrogen-regulated genes, but it presumably communicates reduntant information on the availability of ammonia from an ammonia-sensitive system consisting of the products of glnB and glnD to the regulatory products of glnF and glnG.
Occurrence of Two NAD+-Linked Malate Dehydrogenase Isozymes inEuglena gracilis (1985)

Journal Article Occurrence of Two NAD +-Linked Malate Dehydrogenase Isozymes in Euglena gracilis Get access Kazutaka Miyatake, Kazutaka Miyatake Department of Agricultural Chemistry, University of Osaka Prefecture, Sakai, Osaka 591, Japan Search for other works by this author on: Oxford Academic Google Scholar Koji Washio, Koji Washio Department of Agricultural Chemistry, University of Osaka Prefecture, Sakai, Osaka 591, Japan Search for other works by this author on: Oxford Academic Google Scholar Akiho Yokota, Akiho Yokota Department of Agricultural Chemistry, University of Osaka Prefecture, Sakai, Osaka 591, Japan Search for other works by this author on: Oxford Academic Google Scholar Yoshihisa Nakano, Yoshihisa Nakano Department of Agricultural Chemistry, University of Osaka Prefecture, Sakai, Osaka 591, Japan Search for other works by this author on: Oxford Academic Google Scholar Shozaburo Kitaoka Shozaburo Kitaoka Department of Agricultural Chemistry, University of Osaka Prefecture, Sakai, Osaka 591, Japan Search for other works by this author on: Oxford Academic Google Scholar Agricultural and Biological Chemistry, Volume 49, Issue 3, 1 March 1985, Pages 859–860, https://doi.org/10.1080/00021369.1985.10866813 Published: 01 March 1985 Article history Received: 08 August 1984 Published: 01 March 1985
Alternative Splicing of the TRPC3 Ion Channel Calmodulin/IP3Receptor-Binding Domain in the Hindbrain Enhances Cation Flux (2012)

Canonical transient receptor potential (TRPC3) nonselective cation channels are effectors of G-protein-coupled receptors (GPCRs), activated via phospholipase C-diacylglycerol signaling. In cerebellar Purkinje cells, TRPC3 channels cause the metabotropic glutamate receptor (mGluR)-mediated slow EPSC (sEPSC). TRPC3 channels also provide negative feedback regulation of cytosolic Ca(2+), mediated by a C terminus "calmodulin and inositol trisphosphate receptor binding" (CIRB) domain. Here we report the alternative splicing of the TRPC3 mRNA transcript (designated TRPC3c), resulting in omission of exon 9 (approximately half of the CIRB domain) in mice, rats, and guinea pigs. TRPC3c expression is brain region specific, with prevalence in the cerebellum and brainstem. The TRPC3c channels expressed in HEK293 cells exhibit increased basal and GPCR-activated channel currents, and increased Ca(2+) fluorescence responses, compared with the previously characterized (TRPC3b) isoform when activated via either the endogenous M3 muscarinic acetylcholine receptor, or via coexpressed mGluR1. GPCR-induced TRPC3c channel opening rate (cell-attached patch) matched the maximum activation achieved with inside-out patches with zero cytosolic Ca(2+), whereas the GPCR-induced TRPC3b activation frequency was significantly less. Both TRPC3 channel isoforms were blocked with 2 mm Ca(2+), attributable to CIRB domain regulation. In addition, genistein blocked Purkinje cell (S)-2-amino-2-(3,5-dihydroxyphenyl) acetic acid (mGluR1)-activated TPRC3 current as for recombinant TRPC3c current. This novel TRPC3c ion channel therefore has enhanced efficacy as a neuronal GPCR-Ca(2+) signaling effector, and is associated with sensorimotor coordination, neuronal development, and brain injury.
Granulocytes enhance LPS-induced tissue factor activity in monocytes via an interaction with platelets (1993)

In the present study we have investigated the effect of platelets and granulocytes on bacterial lipopolysaccharide (LPS)-induced tissue factor (TF) activity in monocytes. Experiments were performed on freshly isolated cells resuspended in heparinized plasma and recombined with platelet-poor or platelet-rich plasma. In a platelet-dependent reaction the granulocytes enhanced LPS-induced TF activity by an average of 100%. The effect was dose dependent with regard to the number of both granulocytes and platelets, respectively. Granulocytes and/or platelets did not affect LPS-induced tumor necrosis factor (TNF) secretion from monocytes. Phorbol myristate acetate (PMA) per se was not able to induce TF activity in our system. In contrast, the agonist caused a substantial increase in TF activity induced by LPS. The effect was totally dependent on the presence of platelets and was shown to be due to stimulation of both granulocytes and monocytes (the activity rose from 30 +/- 7 to 83 +/- 12 mU/10(6) cells in the presence of platelets and from 69 +/- 8 to 143 +/- 22 mU/10(6) cells in the presence of platelets and granulocytes). Effects similar to those observed with PMA were obtained with physiological concentrations (10 ng/ml) of TNF. A combination of these two agonists gave no further amplification of LPS-induced TF activity compared with the effect of the agonists separately. Low concentrations of a monoclonal anti-CD15 antibody abolished the stimulatory effects of platelets and granulocytes. Furthermore, the anti-CD15 antibody neutralized the effect of TNF, whereas the PMA effect was reduced by almost 75%. These results were confirmed in a whole-blood system. The inhibitory effect of the antibody may be associated with CD15's role as a complementary ligand for PADGEM. Our study indicates that a close interaction between granulocytes, platelets, and monocytes is essential for optimal TF activity induced by LPS. It is hypothesized that the effect of granulocytes is related to their ability to activate platelets. We propose that upon activation granulocytes secrete a product that enhances the capacity of platelets to stimulate TF activity in monocytes.
Exploring the metabolic variation between domesticated and wild tetraploid wheat genotypes in response to corn leaf aphid infestation (2018)

Infestation of Triticum (wheat) plants by their pest Rhopalosiphum maidis (corn leaf aphid) causes severe vegetative damage. Despite the agro-economic importance of wheat, the metabolic diversity of Triticum turgidum (tetraploid wheat) in response to aphid attack has not been sufficiently addressed. In this study, we compared the metabolic diversity of two tetraploid wheat genotypes, domesticated and wild emmer. The plants were grown in a control growth room and infested with aphids for 96 h. Our untargeted metabolic analysis performed on plants with and without aphids revealed massive differences between the two genotypes. The targeted metabolic analysis highlighted the differences in the biosynthesis of phytohormones. The aphid progeny was lower in the cultivated durum wheat than in the wild emmer wheat. Overall, these observations emphasize the potential of using the natural diversity of wheat species to better understand the metabolic responses to pest damage.
Guanosine promotes the up‐regulation of inward rectifier potassium current mediated by Kir4.1 in cultured rat cortical astrocytes (2006)

Guanosine (Guo) is an endogenous neuroprotective molecule of the CNS, which has various acute and long-term effects on both neurones and astroglial cells. Whether Guo also modulates the activity/expression of ion channels involved in homeostatic control of extracellular potassium by the astrocytic syncytium is still unknown. Here we provide electrophysiological evidence that chronic exposure (48 h) to Guo (500 microm) promotes the functional expression of an inward rectifier K+ (Kir) conductance in primary cultured rat cortical astrocytes. Molecular screening indicated that Guo promotes the up-regulation of the Kir4.1 channel, the major component of the Kir current in astroglia in vivo. Furthermore, the properties of astrocytic Kir current overlapped those of the recombinant Kir4.1 channel expressed in a heterologous system, strongly suggesting that the Guo-induced Kir conductance is mainly gated by Kir4.1. In contrast, the expression levels of two other Kir channel proteins were either unchanged (Kir2.1) or decreased (Kir5.1). Finally, we showed that inhibition of translational process, but not depression of transcription, prevents the Guo-induced up-regulation of Kir4.1, indicating that this nucleoside acts through de novo protein synthesis. Because accumulating data indicate that down-regulation of astroglial Kir current contributes to the pathogenesis of neurodegenerative diseases associated with dysregulation of extracellular K+ homeostasis, these results support the notion that Guo might be a molecule of therapeutic interest for counteracting the detrimental effect of K+-buffering impairment of the astroglial syncytium that occurs in pathological conditions.
Mitochondrial Function in Sepsis (2016)

Mitochondria are an essential part of the cellular infrastructure, being the primary site for high-energy adenosine triphosphate production through oxidative phosphorylation. Clearly, in severe systemic inflammatory states, like sepsis, cellular metabolism is usually altered, and end organ dysfunction is not only common, but also predictive of long-term morbidity and mortality. Clearly, interest is mitochondrial function both as a target for intracellular injury and response to extrinsic stress have been a major focus of basic science and clinical research into the pathophysiology of acute illness. However, mitochondria have multiple metabolic and signaling functions that may be central in both the expression of sepsis and its ultimate outcome. In this review, the authors address five primary questions centered on the role of mitochondria in sepsis. This review should be used both as a summary source in placing mitochondrial physiology within the context of acute illness and as a focal point for addressing new research into diagnostic and treatment opportunities these insights provide.