gebhart/patrepeval huggingface dataset:
A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype (2010)

PURPOSE. To identify the genetic defect in a family with variable retinal phenotypes. The proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins had an early-onset severe retinal dystrophy (EOSRD) with useful vision. A distant family member had retinitis pigmentosa (RP). METHODS. DNA samples of the affected family members were genotyped with 250 K genome-wide SNP microarrays. Genetic defects were localized by linkage analysis and homozygosity mapping, and candidate genes were analyzed by sequencing. Patients underwent a full ophthalmic examination. RESULTS. Compound heterozygous mutations in CEP290 were identified in the proband and her two cousins: the frequent c.2991+1655A>G founder mutation and a novel nonsense mutation in exon 7 (c.451C>T, p.Arg151X). The proband had nystagmus, hyperopia, a flat electroretinogram (ERG), and decreased visual acuity (20/250) from birth. The two cousins had minimal scotopic ERG responses at the age of 2. In one of these patients, visual acuity had reached a level of 20/32 at age 5, which is high for patients with CEP290 mutations. Analysis of the CEP290 mRNA in affected individuals revealed altered splice forms in which either exon 7 or exons 7 and 8 were skipped. In both mutant cDNA products, the open reading frame was not disrupted. Furthermore, homozygosity mapping and mutation analysis in the distant family member affected by RP revealed a homozygous mutation in MERTK, but no CEP290 mutations. This MERTK mutation was heterozygously present in the most severely affected (LCA) patient, but was absent in the two more mildly affected cousins. CONCLUSIONS. A novel nonsense mutation in CEP290 results in nonsense-associated altered splicing. That the remaining open reading frame is intact may explain the less severe phenotype observed in the two affected cousins. The additional heterozygous mutation in MERTK may clarify the more severe phenotype in the proband. This study extends the phenotypic spectrum of CEP290-associated diseases at the mild end.
Prejudice Toward Fat People: The Development and Validation of the Antifat Attitudes Test (1997)

Although the stigma of obesity in our society is well documented, the measurement of antifat attitudes has been a difficult undertaking. Two studies were conducted to construct and validate the Antifat Attitudes Test (AFAT). In study 1, college students (110 men and 175 women) completed the preliminary 54-item AFAT and specific indices of body image and weight-related concerns. Psychometric and factor analysis revealed a 47-item composite scale and three internally consistent factors that were uncorrelated with social desirability: Social/Character Disparagement, Physical/Romantic Unattractiveness, and Weight Control/Blame. Several body images correlates of antifat prejudice were identified, and men expressed more negative attitudes than women. Study 2 experimentally examined the effects of information about the controllability of weight on the antifat attitudes of 120 participants. Exposure to information on behavioral vs. biogenetic control led to greater blame of persons who are fat for their body size. The implications of the findings and the potential utility of the AFAT are discussed.
Valve Train Design for a New Gas Exchange Process (2004)

<div class="htmlview paragraph">The design and testing of the valve train for a new two-stroke diesel engine concept [<span class="xref">1</span>,<span class="xref">2</span>] is presented. The gas exchange of this process requires extremely fast-acting inlet valves, which constituted a very demanding designing task. A simulation model of the prototype valve train was constructed with commercially available software. The simulation program served as the main tool for optimizing the dynamic behavior of the valve train. The prototype valve train was built according to the simulations and valve acceleration measurements were performed in order to validate the simulation results. The simulations and measurements are presented in detail in this paper.</div>
Monitoring Fetal Body Movement (1987)

Early in gestation the fetus is active, with movements reflecting several different central nervous system functions. Specific muscle actions of the limbs and trunk respond to different brain stimuli. Sporadic head, trunk, and limb motions that are spastic in quality eventually give way to more combined, sustained, and regular motions as integration develops. This progressive complexity in stimulus reaction has been evaluated with continuous observation using real-time ultrasound imaging. Monitoring gross fetal body motion has gained acceptance as being useful in predicting impending fetal compromise and even death, especially in the presence of chronic placental insufficiency. Prolonged or frequent body movements noted by maternal perception, electromechanical monitoring, and ultrasound imaging are reassuring findings. Fetal inactivity should be documented and requires a reassessment of any underlying antepartum complication and a more precise evaluation of fetal well-being with the use of other techniques. An adequate interpretation and an explanation of these findings to the pregnant woman is necessary to prevent undue stress from misinformation.
Laser-induced polarized fluorescence in cubic yttrium sesquioxide doped with trivalent europium (1979)

The fluorescence spectrum of ${\mathrm{Eu}}^{3+}$ in the ${C}_{2}$---approximately ${C}_{2v}$---site of the $C$-${\mathrm{Y}}_{2}$${\mathrm{O}}_{3}$ structure was recorded using a tunable dye laser to populate the $^{5}D_{0}$ level of the $4{f}^{6}$ configuration. Because the active ion occupies an anisotropic point site in an overall cubic unit cell one can make use of the Feofilov theory to interpret the experimental polarization of the emission lines. The polarized laser beam was applied perpendicular to the (111) plane of a single crystal and the polarization for each line of the $^{5}D_{0}\ensuremath{\rightarrow}^{7}F_{1,2,3,4}$ transitions was measured. From the data the irreducible representations associated with the Stark levels can be found. In particular the transitions ${A}_{1}\ensuremath{\rightarrow}{A}_{1}$ and ${A}_{1}\ensuremath{\rightarrow}{A}_{2}$ can be unambiguously distinguished from ${A}_{1}\ensuremath{\rightarrow}{B}_{1}$ and ${A}_{1}\ensuremath{\rightarrow}{B}_{2}$. A preliminary crystal-field analysis was undertaken on the basis of the 49 $^{7}F_{J}$ states using an Hamiltonian (including spin-orbit coupling) written in true ${C}_{2}$ symmetry, that is including imaginary crystal-field parameters. To derive approximate values of the crystal-field parameters the electrostatic point-charge model was applied.
On the Ideology of Nutritionism (2008)

This essay introduces and defines the ideology or paradigm of nutritionism, which is generally characterized by a reductive focus on the nutrient composition of food. More specifically, it is where the nutri-biochemical level of engagement with food and the body becomes the dominant way of understanding the relationship between food and bodily health, and at the expense of other levels and ways of understanding and engaging with food. Nutritionism is the dominant paradigm within nutrition science, informs much dietary advice, and has become a primary means for the engineering and marketing of food products. A number of characteristics of nutritionism are defined, including nutritional reductionism, biomarker reductionism, genetic nutritionism, the functional body, the myth of nutritional precision, the nutritional gaze, and nutritional tinkering, nutri-quantification, the erasure of qualitatative food distinctions, nutrient fetishism, the 'good and bad nutrient' discourses, nutri-commodification, and the nutricentric person. A number of types of foods and types of food marketing are also introduced and defined, including nutritionally engineered foods, transnutric foods, nutritionally marketed foods and functionally marketed foods.
Stripline to microstrip line aperture coupler (1990)

Aperture coupling between stripline and microstrip line is analyzed as a function of the electric and magnetic polarizabilities of the aperture, using Bethe's small-aperture coupling theory. A coupling expression for the general case of an aperture in the common ground plane is derived. Coupling variations with aperture dimensions for the case of a thin slot, a hole, a diamond, a rounded end slot, and an ellipse are determined using McDonald's polynomial approximations for the electric and magnetic polarizability for small apertures. Experimental results for the case of a thin slot and a circuit aperture are also presented.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">></ETX>
A ZIRCONIA INDUCTION FURNACE FOR DRAWING PRECISION SILICA WAVE GUIDES (1977)

The development of low loss, high silica optical fibers over the last few years has required the development of high temperature heat sources, over 2000°C, for the drawing of the fiber. Of the possible heat sources the oxy- hydrogen torch, the CO2 laser and a few furnaces have been employed for drawing the high silica fibers. The torch method, while inexpensive, possesses control and contamination difficulties. High temperature furnaces provide high thermal inertia, high stability, and radially symmetric heating. Most furnaces, however, possess graphite or metallic heating elements which requires flowing protective atmospheres during operation and as a result have limited element life and show some degree of contamination in the furnace atmosphere. The CO2 laser provides the cleanest drawing atmosphere, but requires unique optical designs to radially distribute the energy for drawing and they are limited in power.
Architecture-based approach for synthesizing and integrating adapters for legacy software (2000)

In software organizations there is a very real possibility that a commitment to existing assets will require migration of legacy software towards new environments that use modern technology. One technique that has been suggested for facilitating the migration of existing legacy assets to new platforms is via the use of the adapter design pattern, also known as component wrapping. In this paper, we describe an approach for facilitating the integration of legacy software into new applications using component wrapping. That is, we demonstrate the use of a software architecture description language as a means for specifying various properties that can be used to assist in the construction of wrappers. In addition, we show how these wrapped components can be used within a distributed object infrastructure as services that are dynamically integrated at runtime. 1 Introduction A software product line is a collection of systems that share a managed set of properties that are derived from a co...
Modular and Offsite Construction of Piping: Current Barriers and Route (2017)

To investigate current practices and identify challenges of piping prefabrication, this paper conducts a comprehensive survey to mechanical, electrical, and plumbing (MEP) contractors. This paper is performed in three main steps. First, the current state of piping prefabrication, the attitude of MEP contractors to piping prefabrication, and the challenges of piping prefabrication are identified through a comprehensive data collection process that included semi-structured interviews, case studies, site visits, and questionnaires. The second step included suggesting a pattern and roadway of piping prefabrication. The results showed that: (1) The attitudes to feasibility of piping prefabrication differ in piping systems, piping connector modes, and types of project; and (2) building information modelling (BIM) promotes the adoption of piping prefabrication. Integrated project delivery (IPD), and distributor’s early involvement into projects have significant effects on the successful implementation of piping prefabrication. (3) The main barriers and challenges were identified including the low level of standardization of design, lack of preferential policy, economies of scale, low-skilled workers, as well as the availability of fittings and valves. In the final step, a four-phase route of piping prefabrication is suggested for MEP contractors to expand the prefabrication capacity incrementally. The main contributions of this paper include: (1) This paper proposes a route for MEP contractors to improve their piping construction through the Modular and offsite construction (MOC) method. (2) This paper finds that the level of feasibility of piping prefabrication differs in piping systems, connection modes, and types of project. Challenges and barriers of piping prefabrication are firstly identified.
Biochemical changes during the ripening of juckfruit (Artocarpus heterophyllus L.) (1989)

Modifications de la composition chimique (glucides, acides amines et organiques, lipides, aromes), de la texture et du metabolisme respiratoire du fruit au cours de la maturation
Templated Gold Nanowire Self-Assembly on Carbon Substrates (2001)

Artificial templates for the linear alignment of nanoparticles are readily obtained by friction transfer followed by a nano-replication step. The particles align spontaneously probably due to the effect of entropic force fields generated by the surface topography of the corrugated substrate. The Figure shows self-assembled lines of gold nanoparticles on a carbon replica of friction-transferred poly(tetrafluoroethylene) lines.
A new broad-band microwave antenna system (1958)

Radio relay in the bell telephone System now provides over 13 million miles of 2-way message circuits, approximately one fourth of all the long-distance telephone circuits in this country. It also provides about 62,000 miles of broad-band radio channels which make network TV (television) available to over 500 TV broadcasting stations in 350 cities. This rapid expansion of radio relay facilities indicated some time ago that by 1955 portions of the central transcontinental and other backbone routes would be loaded to their capacity of six broad-band channels in each direction of transmission. Continued expansion would require the development of new radio relay systems in the higher frequency bands assigned by the Federal Communications Commission for common-carrier use.
The study of charge carrier kinetics in semiconductors by microwave conductivity measurements (1986)

The study of the excess conductivity induced in a material by pulsed optical excitation yields information on the optoelectronic properties of the material and is receiving increasing attention. As conventional conductivity techniques are hampered by the need to apply electrical contacts, we have investigated the reliability and the possibilities of microwave conductivity measurements. This paper first presents the general background for excess conductivity measurements in the microwave range, and then derives the quantitative relationship between the reflected microwave signal and the change in conductivity for a wafer of single-crystalline Si. For this sample, the theory of excess charge carrier kinetics is also developed. After a short description of our apparatus, kinetic measurements on a nano- and microsecond timescale are compared to theory.
Changes in Functional Properties of Casein by Different Chemical Modifications (1997)

Casein was chemically modified with acetic, succinic, and maleic anhydride and changes in functional properties were evaluated as affected by the degree of modification. Chemical modification resulted in casein with unique functional properties depending upon the type of anhydride used and the degree of modification. It was possible to control heat coagulation, calcium precipitability, foaming and emulsion capacity and stability. At pH 4.5 heat coagulation was 0% in the case of 74.1% acetylated casein; on the contrary, succinylation and maleylation resulted in highly heat sensitive protein. Foaming properties were improved markedly by succinylation and maleylation at pH 4.5. However, emulsifying properties were enhanced only by maleylation.
Culture of Human Stem Cells (2007)

Culture of human stem cells , Culture of human stem cells , کتابخانه مرکزی دانشگاه علوم پزشکی تهران
Algorithmic Enumeration of Ideal Classes for Quaternion Orders (2010)

We provide algorithms to count and enumerate representatives of the (right) ideal classes of an Eichler order in a quaternion algebra defined over a number field. We analyze the run time of these algorithms and consider several related problems, including the computation of two-sided ideal classes, isomorphism classes of orders, connecting ideals for orders, and ideal principalization. We conclude by giving the complete list of definite Eichler orders with class number at most 2.
Racists or Tolerant Multiculturalists? How Do They Begin? (2003)

The author discusses how negative racial attitudes originate. First, she looks globally at how various theories have attempted to explain the origins of racism. Second, she reviews some research on this topic that she and her colleagues have completed with very young children. Both the theories and the studies have ramifications for how psychologists might reduce the possibility of children becoming racist.
Activity of anthraquinonic and naphthoquinonic compounds on oral bacteria. (1994)

The activity of anthraquinonic compounds and naphthoquinones was tested by micromethods against oral bacteria. The more significant results were obtained with naphthoquinones. Plumbagin, juglone and lawsone possess a wide spectrum of activity. The lowest MIC values were observed with plumbagin and the combination of juglone and lawsone results in a synergism against cariogenic bacteria. Among the eight anthraquinonic compounds investigated only rhein showed significant antimicrobial properties. Results obtained could suggest the use of rhein and plumbagin alone or juglone and lawsone combined for treatment of oral infectious diseases.
Right Ventricular Function in Patients with Acute Pulmonary Embolism: Analysis with Electrocardiography-synchronized Multi–Detector Row CT (2007)

Retrospective ECG-synchronized multi-detector row CT facilitates detection of RV dysfunction, depending on pulmonary embolus location.
Mechanisms of Neural Patterning and Specification in the Development Cerebellum (1995)

The brain's default mode network consists of discrete, bilateral and symmetrical cortical areas, in the medial and lateral parietal, medial prefrontal, and medial and lateral temporal cortices of the human, nonhuman primate, cat, and rodent brains. Its ...Read More
OPTIMIZATION OF INFILL DRILLING IN NATURALLY-FRACTURED TIGHT-GAS RESERVOIRS (2004)

A major goal of industry and the U.S. Department of Energy (DOE) fossil energy program is to increase gas reserves in tight-gas reservoirs. Infill drilling and hydraulic fracture stimulation in these reservoirs are important reservoir management strategies to increase production and reserves. Phase II of this DOE/cooperative industry project focused on optimization of infill drilling and evaluation of hydraulic fracturing in naturally-fractured tight-gas reservoirs. The cooperative project involved multidisciplinary reservoir characterization and simulation studies to determine infill well potential in the Mesaverde and Dakota sandstone formations at selected areas in the San Juan Basin of northwestern New Mexico. This work used the methodology and approach developed in Phase I. Integrated reservoir description and hydraulic fracture treatment analyses were also conducted in the Pecos Slope Abo tight-gas reservoir in southeastern New Mexico and the Lewis Shale in the San Juan Basin. This study has demonstrated a methodology to (1) describe reservoir heterogeneities and natural fracture systems, (2) determine reservoir permeability and permeability anisotropy, (3) define the elliptical drainage area and recoverable gas for existing wells, (4) determine the optimal location and number of new in-fill wells to maximize economic recovery, (5) forecast the increase in total cumulative gas production from infill drilling, and (6) evaluate hydraulic fracture simulation treatments and their impact on well drainage area and infill well potential. Industry partners during the course of this five-year project included BP, Burlington Resources, ConocoPhillips, and Williams.
The Activated Sintering of Tungsten with Group VIII Elements (1963)

Small additions of Group VIII transition elements permit the densification of tungsten powder compacts at temperatures well below those employed for sintering commercial purity tungsten powder. The mechanism of this process has been examined using the model concepts of current general sintering theories. The added solid element accelerates mass transport along its interface with a tungsten particle. This process, together with sintering in the presence of a liquid phase or a volatile component, comprises the three types of carrier phase sintering in which one of several possible pure component solid‐state sintering mechanisms is selectively accelerated.
How to Keep Markets Safe in the Era of High-Speed Trading (2012)

A number of recent technology-related snafus have focused attention on high-speed trading and affected investor confidence in the markets. These incidents and the resulting losses highlight the need for risk controls at every step of the trading process.
Hemodynamic, Hormonal, and Renal Effects of the Prostacyclin Analogue Iloprost in Conscious Dogs With and Without Heart Failure (1990)

To test the efficacy of exogenous prostaglandins for vasodilator therapy in heart failure, we studied the effects of the prostacyclin-derivative iloprost (1.5-150 ng/kg/min) in seven conscious dogs before and after induction of heart failure by right ventricular pacing (250/min. 10 days). In healthy dogs, iloprost (150 ng/kg/min) decreased mean arterial blood pressure (MAP) (-45%) by a decrease in total peripheral resistance (TPR) (-55%), and increased cardiac output (CO) (+24%) and heart rate (HR) (+20%) with no effect on right atrial and pulmonary arterial pressures (RAP, PAP). Plasma norepinephrine (NE) (+47%), renin (+351%), and aldosterone (+126%) were increased. Urine flow (-70%) and Na excretion (-53%) were decreased. Iloprost (15 ng/kg/min) increased renal blood flow (RBF) (+29%), but did not change glomerular filtration rate (GFR). In dogs with heart failure, iloprost decreased arterial BP (-31%), TPR (-42%) and pulmonary vascular resistance (-28%) and increased CO (+29%), with no change in RAP and PAP. Plasma NE (+34%), renin (+385%), and aldosterone (+146%) were increased. RBF was unchanged. GFR (-24%) and filtration fraction (FF) (-30%) were decreased, as was urine flow (-65%). In experimental heart failure, iloprost is a potent arteriolar dilator, increasing CO with no preload effect. These beneficial effects are limited, however, by further neurohumoral activation and deterioration of renal function.
What is subjective global assessment of nutritional status? (1987)

Presented and described in detail is a clinical technique called subjective global assessment (SGA), which assesses nutritional status based on features of the history and physical examination. Illustrative cases are presented. To clarify further the nature of the SGA, the method was applied before gastrointestinal surgery to 202 hospitalized patients. The primary aim of the study was to determine the extent to which our clinician's SGA ratings were influenced by the individual clinical variables on which the clinicians were taught to base their assessments. Virtually all of these variables were significantly related to SGA class. Multivariate analysis showed that ratings were most affected by loss of subcutaneous tissue, muscle wasting, and weight loss. A high degree of interobserver agreement was found (kappa = 0.78, 95% confidence interval 0.624 to 0.944, p less than 0.001). We conclude that SGA can easily be taught to a variety of clinicians (residents, nurses), and that this technique is reproducible.