gebhart/patrepeval huggingface dataset:
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man (2000)

Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identification and mapping of DBCRs. To get an estimate of the potential of this approach, we surveyed all cytogenetic archives in Denmark and southern Sweden, with a population of approximately 6.6 million. The nine laboratories have performed 71 739 postnatal cytogenetic tests. Excluding Robertsonian translocations and chromosome 9 inversions, we identified 216 DBCRs ( approximately 0.3%), including a minimum estimate of 114 de novo reciprocal translocations (0.16%) and eight de novo inversions (0.01%). Altogether, this is six times more frequent than in the general population, suggesting a causal relationship with the traits involved in most of these cases. Of the identified cases, only 25 (12%) have been published, including 12 cases with known syndromes and 13 cases with unspecified mental retardation/congenital malformations. The remaining DBCRs were associated with a plethora of traits including mental retardation, dysmorphic features, major congenital malformations, autism, and male and female infertility. Several of the unpublished DBCRs defined candidate breakpoints for nail-patella, Prader-Willi, and Schmidt syndromes, ataxia, and ulna aplasia. The implication of the survey is apparent when compared with MCN; altogether, the 292 participating laboratories have performed >2.5 million postnatal analyses, with an estimated approximately 7500 DBCRs stored in their archives, of which more than half might be causative mutations. In addition, an estimated 450-500 novel cases should be detected each year. Our data illustrate that DBCRs and MCN are resources for large scale establishment of phenotype-genotype relationships in man.
Effects of Chronic GM1 Ganglioside Treatment on Cognitieve and Motor Deficits in a Slowly Progressing Model of Parkinsonism in Non-Human Primates (1998)

This study examined the effects of chronic GM1 ganglioside administration on the evolution of cognitive and motor deficits in monkeys exposed to low doses of the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) over an extended period of time. Monkeys were administered low doses of MPTP for 26 weeks. Once stable cognitive deficits and minimal motor deficits were observed, animals were randomized to saline (N = 2) or GM1 ganglioside (N = 3) treatment groups. Treatments were administered for 90 weeks concurrent with continued low dose MPTP administration. During the first phase of the study (treatment 1-31), GM1 administration ameliorated cognitive deficits and protected against further cognitive decline. Cognitieve deficits worsened in saline-treated animals during this period. In the second phase of the study (weeks 32-52) MPTP dose were increased to enhance the severity of the parkinsonism. GM1-treated animals had delayed onset of motor deficits and a continued preservation of cognitive function. Cognitive and motor function declined in the saline-treated group. In the final phase of the study (weeks 53-90), MPTP doses were lowered back to the levels used during the intial phase of study. GM1-treated animals had significant recovery of motor function, while motor and cognitive function continued to be severely impaired in the saline-treated group. These results suggest that chronic GM1 treatment could be useful in the long-term treatment of Parkinson's disease.
Alkene Hydroformylation Catalyzed by Rhodium Complexes in Ionic Liquids: Detection of Transient Carbene Species (2008)

D/H exchange reactions at the imidazolium cation of an ionic liquid were observed in hydroformylation reactions of 1-octene catalyzed by [Rh(acac)(CO)2](phosphine ligand) dissolved in 1-n-butyl-3-methylimidazolium-d3 N-bis(trifluoromethanesulfonyl)imidate at 75 °C under 5 atm (constant pressure) of CO/H2 (1:1). This D/H exchange occurs preferentially at the C2 position and occurs essentially in the presence of the phosphine ligand and the rhodium precursors, and it is more pronounced in the presence of bases, even a very weak one such as methanol. The presence of phosphine is also essential for the hydroformylation reaction. This result suggests the formation of N-heterocyclic carbenes (NHCs) in the biphasic hydroformylation reactions promoted by Rh complexes in imidazolium ionic liquids. These carbene species are easily displaced by the other species present in the ionic liquid, and they do not cause any significant changes in the catalytic activity or selectivity of the hydroformylation reaction.
Size-Exclusion Chromatography with Light-Scattering Detection at Two Angles (1995)

A method for the analysis of data from a size-exclusion chromatography (SEC) detector that measures elastic light-scattering intensities at two angles (15° and 90°) is evaluated for linear polystyrenes in tetrahydrofuran (THF). Over certain size ranges a single detector can be used to calculate molecular weights by assuming the particle-scattering function to be unity. The 90° scattering is useful for isotropic scatterers less than ~70,000 MW and the 15° scattering for polystyrenes less than ~500,000 MW. For anisotropic scatterers, the ratio of scattering intensities at the two angles is used to calculate the particle scattering function and root-mean-square radius, assuming a specific polymer shape (e.g., random coil). Scattering at the low angle and the particle-scattering function are then used to calculate weight-average molecular weights. It is shown that the assumption of shape has only a minor effect on the calculation of polymer sizes in the size range fractionated by common SEC columns. Accuracy and precison of measured radii are greatly affected by detector noise on the ratioing method, insensitivity of the light-scattering detector to small molecules in broad polymer distributions, interdetector volume, and data fitting. However, one method that uses the ratio of areas of the light-scattering signals alone calculates with high precision and accuracy an average radius that corresponds most closely to a z-average.
Impact of Chromatic Dispersion Compensation in Single Carrier Two-Dimensional Stokes Vector Direct Detection System (2017)

We experimentally demonstrate, aided with mathematical analysis, two methods for chromatic dispersion (CD) compensation for two-dimensional Stokes vector direct detection (2D-SV-DD) system. Results show that the better CD compensation method is dependent on transmission distance and operating symbol rate relative to the digital-toanalog converter (DAC) sampling rate. When 84 GBd 16 QAM signal is generated using an 84 GSps DAC, the bit error rate (BER) after 640 km propagation is ~1.67 × 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">-2</sup> and ~2 × 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">-2</sup> using CD postand precompensation, respectively. When 64 GBd 16 QAM signal is generated at the same DAC sampling rate, the BER at 960 km is ~1.61 × 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">-2</sup> and ~9.8 × 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">-3</sup> using CD postand precompensation, respectively. In addition, our findings reveal that CD precompensation allows for transmission distances greater than 1000 km at which CD postcompensation is no longer viable due to the required training. Finally, enabled by CD precompensation, we report the highest capacity-times-distance products of 591 360 (Gb/s)·km and 614 400 (Gb/s)·km in 2D-SV-DD system using QPSK modulation format and symbol rates of 84 and 64 GBd, respectively. Also, we can achieve 300G transmission for distances below 320 km using 84 GBd 16 QAM signal with BER below hard decision forward error correcting threshold of ~3.8 × 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">-3</sup> .
[Hormonal regulation of gene transcription--nuclear hormone receptors as ligand-activated transcription factors]. (2000)

Nuclear hormone receptors regulate gene transcription upon recognizing specific regulatory sequences--hormone responsive elements (HRE) in gene promoters, enhancers, and silencers. Receptors for sexual and adrenal steroid hormones, thyroid hormone, retinoic acid and vitamin D, as well as an extensive group of orphan receptors, all exhibit strong homology in structural and functional organization of the molecule and they form together the nuclear receptor superfamily. While classical steroid receptors dissociate upon activation an inhibitory hsp-complex, dimerize and then are able to bind cognate HRE and activate transcription, thyroid and retinoid receptors as well as the vitamin D receptor bind the HRE in question constitutively and activation is represented by dissociating a corepressor and recruiting a coactivator. Similar mode of action applies also for orphan receptors. Some of recently resolved orphan receptors are activated by immediate products of metabolism; the metabolism of cholesterol relies in great part on selective activation of a particular orphan receptors by a particular cholesterol metabolite.
The Bmas Basic Course: A Consumer Survey (1996)

A postal questionnaire was sent to all participants at the basic medical acupuncture courses for doctors organised by the British Medical Acupuncture Society (BMAS) over a 12 month period. There was a 78% response to this. The answers showed that 95% of GPs attending a course were using acupuncture as a treatment at least once a week, but 39% of hospital doctors had not practised acupuncture after their course. Point finding and the treatment of musculoskeletal pain were considered to be the most useful subjects in the course, while auricular and electro- acupuncture were the least popular. Those who had joined the BMAS thought that the most important functions of the Society were meeting other medical acupuncturists, attending further courses, and this Journal. The least important were accreditation and the availability of learning resources.
Transient shaping in force-reflecting teleoperation (1991)

It has been shown that stability can actually be guaranteed for all possible transmission delays simply by having the transmission mimic natural wave carriers, such as flexible beams or electrical transmission lines. Passivity analysis provides a convenient framework for analyzing such systems while accommodating for arbitrary environment interactions and human operator inputs. Though stability is fundamental, practical usefulness is determined by transient characteristics. Thus, this paper focuses on the transient behavior of stable force-reflecting teleoperation systems. It builds on the notion of impedance matching to select the controller structure and tune the controller parameters, and finds a symmetric controller configuration to provide the best behavior. It also includes a tuning mechanism to trade-off the accuracy of force-reflection (and feeling of telepresence) with the possible speeds of operation.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">></ETX>
Efficient QoS over LTE &#x2014; A scheduler centric approach (2012)

With increasing use of smart phones and mobile broadband, efficient differentiation of traffic is essential for system stability and user satisfaction. In this paper we propose a scheduler centric approach to traffic differentiation (called QoS in this paper) over LTE, in which the scheduler acts as a core entity assisted with congestion control and admission control. The scheduler is responsible for enforcing the wanted differentiation; it guarantees that high priority bearers, which are in danger of not fulfilling their QoS contract, receive necessary resources. The bearer based congestion control reacts on scheduling decisions and removes bearers with insufficient resources. The admission control algorithm takes decisions using load measurements from the scheduler. Simulation results with a mixed traffic scenario show that applying the proposed approach guarantees GBR bearers sufficient resources efficiently in the order of set priorities while background bearers utilize the remaining resources.
Uncooked, lactobacilli-rich, vegan food and rheumatoid arthritis (1998)

We tested the effects of an uncooked vegan diet, rich in lactobacilli, in rheumatoid patients randomized into diet and control groups. The intervention group experienced subjective relief of rheumatic symptoms during intervention. A return to an omnivorous diet aggravated symptoms. Half of the patients experienced adverse effects (nausea, diarrhoea) during the diet and stopped the experiment prematurely. Indicators of rheumatic disease activity did not differ statistically between groups. The positive subjective effect experienced by the patients was not discernible in the more objective measures of disease activity (Health Assessment Questionnaire, duration of morning stiffness, pain at rest and pain on movement). However, a composite index showed a higher number of patients with 3-5 improved disease activity measures in the intervention group. Stepwise regression analysis associated a decrease in the disease activity (measured as change in the Disease Activity Score, DAS) with lactobacilli-rich and chlorophyll-rich drinks, increase in fibre intake, and no need for gold, methotrexate or steroid medication (R2=0.48, P=0.02). The results showed that an uncooked vegan diet, rich in lactobacilli, decreased subjective symptoms of rheumatoid arthritis. Large amounts of living lactobacilli consumed daily may also have positive effects on objective measures of rheumatoid arthritis.
Surface-emitting, distributed-feedback diode lasers with uniform near-field intensity profile (1998)

Theoretical analysis of second-order surface-emitting, complex-coupled distributed feedback diode lasers with first-order distributed Bragg reflectors (DBR) is presented. The DBR reflectors are shown to insure simultaneous operation in a virtually uniform near-field profile with high efficiency and adequate intermodal discrimination. Such devices display symmetric-mode (single-lobe) surface emission with relatively high external differential quantum efficiency (30%), low gain threshold (18 cm−1), and &lt;8% near-field intensity profile variations (in the longitudinal direction). The devices have the potential to provide &gt;100 mW of stable, single-mode cw power, significantly higher than it is possible with vertical-cavity surface-emitting lasers. It is also shown that the device studied here can be combined with a resonant optical waveguide array device to produce a 2D uniform near-field surface-emitting source capable of providing greater than 1 W cw power in a stable, single-lobed beam.
Case report of IgG4-related appendiceal disease (2020)

This study reports the fifth case of IgG4-related appendiceal disease. Increasing awareness of this condition may influence the management of these patients, once patients with IgG4-related disease should be monitored after treatment, due to the risk of recurrence or involvement of other organs.
Steel Castings Handbook (1995)

This guide tells you what you need to know about mechanical and physical properties and other pertinent information in the design and use of steel castings. Contents include: Introduction Industrial Applications Advantages Specifying Purchasing Policy Functional Considerations of Design Manufacturing Design Considerations Concurrent Engineering Engineering Drawings for Casting Production Redesign of Steel Castings Cast-Weld Construction Pattern Equipment Casting and Molding Processes Melting Finishing/Heat Treatment/Inspection Process Capability and Tolerences Quality Control and Quality Assurance Carbon and Low Alloy Steels for Pressure Containing and Structural Parts, Wear Resistant Steels Corrosion-Resistant High Alloy Steels Nickel Base Coatings Heat Resistant High Alloy Steels Low Temperature and Cryogenic Steels Hardenability and Heat Treatment Weldability and Welding Machinability Physical Properties.
Progenitor Cell Mobilization Enhances Bone Healing by Means of Improved Neovascularization and Osteogenesis (2011)

Improved bone regeneration in this model was associated with elevated circulating progenitor cell number and subsequently improved neovascularization and osteogenesis. These findings highlight the importance of circulating progenitor cells in bone healing and may provide a novel therapy for bone regeneration.
Derivation of equivalent pipe network analogues for three‐dimensional discrete fracture networks by the boundary element method (1999)

Discrete fracture network (DFN) models generally require solution of flow and transport equations in three‐dimensional networks of either disc, polygonal, or pipe elements. Pipe network elements have significant advantages in computation for both flow and transport. However, there is a need to develop an efficient procedure for derivation of the properties of these pipes to ensure that they are hydraulically equivalent to the DFN network of polygonal elements. In this study a boundary element procedure for derivation of pipe properties is developed and demonstrated. The results show that the hydraulic behavior of pipe networks can be equivalent to that of polygonal‐element DFN models.
Multi-view Ear Shape Feature Extraction and Reconstruction (2007)

Due to ear's complex structure, particular position, and preferable stability, ear biometrics has attracted increasingly attention recently. In this paper, we present a new multi-view based ear feature extraction strategy. We utilize not only front view ear image but backside view ear image to extract 2D ear shape four kinds of rich features for ear recognition. In addition, we utilize multi-view ear images to reconstruct 3D ear shape, and a neural network 3D ear registration method is introduced also. Experimental results and comparison analysis show our multi-view based strategy will be a promising approach for ear biometrics.
Nuclear Bragg scattering of synchrotron radiation with strong speedup of coherent decay, measured on antiferromagnetic<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" display="inline"><mml:mrow><mml:mmultiscripts><mml:mrow/><mml:mprescripts/><mml:mrow/><mml:mrow><mml:mn>57</mml:mn></mml:mrow><mml:mrow/><mml:mrow/></mml:mmultiscripts></mml:mrow></mml:math><mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" display="inline"><mml:mrow><mml:msub><mml:mrow><mml:mi mathvariant="normal">FeBO</mml:mi></mml:mrow><mml:mrow><mml:mn>3</mml:mn></mml:mrow></mml:msub></mml:mrow></mml:math> (1987)

A strongly speeded-up decay of a collective nuclear excitation has been observed in pure nuclear resonance diffraction of synchrotron-radiation pulses by a perfect single crystal of antiferromagnetic $^{57}\mathrm{FeBo}_{3}$. Superimposed appeared a quantum-beat spectrum exhibiting the interference of four hyperfine transitions. The angular dependence of the time spectrum was verified with measurements above, below, and at the exact Bragg position. The off-Bragg measurements reveal sensitively the weak quadrupole interaction in $^{57}\mathrm{FeBO}_{3}$. .AE
Inhibition Studies on the Membrane-associated Phospholipase A2 in vitro and Prostaglandin E2 Production in vivo of the Macrophage-like P388D1 Cell (1989)

In order to ascertain the role of phospholipase A2 (PLA2) in the release of arachidonic acid for eicosanoid biosynthesis, we have characterized a Ca2+-dependent PLA2 from P388D1 cells, evaluated inhibitors of its activity, and correlated the effects of these inhibitors on prostaglandin (PG) E2 production in the intact cell. The Ca2+-dependent PLA2 has little preference for the polar head group or sn-2 fatty acid of phospholipids, and we have now found that it will hydrolyze 1-alkyl,2-acyl phospholipids, but it does not show a preference for this substrate over other phospholipids. Inhibitor studies with the Ca2+-dependent PLA2 have shown that arachidonic acid is an effective inhibitor. The analogs of natural fatty acids, eicosatetraynoic acid and octadecyleicosaynoic acid, were ineffective as inhibitors of the P388D1 PLA2. However, 7,7-dimethyl-5,8-eicosadienoic acid was as effective an inhibitor (IC50 = 16 microM) as arachidonic acid. Manoalide and its analog, manoalogue, were found to be good inhibitors of the P388D1 PLA2 (IC50 = 16 and 26 microM, respectively). The irreversible inhibitor of the extracellular PLA2, p-bromophenacyl bromide, was a very poor inhibitor of the P388D1 PLA2, apparent IC50 = 500-600 microM. Quinacrine was also ineffective as an inhibitor as was the cyclooxygenase inhibitor indomethacin. On the cellular level, the P388D1 cells respond to various stimuli to produce PGD2 and PGE2 as the major cyclooxygenase products with minor production of PGI2 and thromboxane A2. Similar arachidonic acid metabolite profiles were seen for calcium ionophore A23187, melittin, and platelet-activating factor. Manoalide, manoalogue, and 7,7-dimethyl-5,8-eicosadienoic acid, effective inhibitors of the isolated PLA2, inhibited PGE2 production in intact P388D1 cells 40-85% in the concentration range studied. In contrast, p-bromophenacyl bromide, which is ineffective as an inhibitor of the P388D1 PLA2, did not significantly effect PGE2 production in the concentration ranges used. These results demonstrate that there may be important differences between the intracellular P388D1 PLA2 and the more commonly studied extracellular forms of PLA2. These differences are also observed in the intact cell studies and emphasize the need for the evaluation of inhibitors both in vitro and in vivo using the isolated enzyme and intact cell. This is the first example of studies aimed at correlating the inhibition of a purified intracellular PLA2 with inhibition of prostaglandin production in the intact cell from which it is derived.
Quantitative comparison of IMAC and TiO<sub>2</sub> surfaces used in the study of regulated, dynamic protein phosphorylation (2007)

Protein phosphorylation regulates many aspects of cellular function, including cell proliferation, migration, and signal transduction. An efficient strategy to isolate phosphopeptides from a pool of unphosphorylated peptides is essential to global characterization using mass spectrometry. We describe an approach employing isotope tagging reagents for relative and absolute quantification (iTRAQ) labeling to compare quantitatively commercial and prototypal immobilized metal affinity chelate (IMAC) and metal oxide resins. Results indicate a prototype iron chelate resin coupled to magnetic beads outperforms either the Ga(3+)-coupled analog, Fe(3+), or Ga(3+)-loaded, iminodiacetic acid (IDA)-coated magnetic particles, Ga(3+)-loaded Captivate beads, Fe(3+)-loaded Poros 20MC, or zirconium-coated ProteoExtract magnetic beads. For example, compared with Poros 20MC, the magnetic metal chelate (MMC) studied here improved phosphopeptide recovery by 20% and exhibited 60% less contamination from unphosphorylated peptides. With respect to efficiency and contamination, MMC performed as well as prototypal magnetic metal oxide-coated (TiO(2)) beads (MMO) or TiO(2) chromatographic spheres, even if the latter were used with 2,5-dihydroxybenzoic acid (DHB) procedures. Thus far, the sensitivity of the new prototypes reaches 50 fmol, which is comparable to TiO(2) spheres. In an exploration of natural proteomes, tryptic (phospho)peptides captured from stable isotopic labeling with amino acids in cell culture (SILAC)-labeled immunocomplexes following EGF-treatment of 5 x 10(7) HeLa cells were sufficient to quantify stimulated response of over 60 proteins and identify 20 specific phosphorylation sites.