gebhart/patrepeval huggingface dataset:
Recognizable phenotypes in CDG (2018)

Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation. Another indispensable tool is the use of clinical pattern recognition-or syndromology-relying on careful phenotyping. While genomics might uncover variants not essential in the final clinical expression of disease, and metabolomics could point to a mixture of primary but also secondary changes in biochemical pathways, phenomics describes the clinically relevant manifestations and the full expression of the disease. In the current review we apply phenomics to the field of congenital disorders of glycosylation, focusing on recognizable differentiating findings in glycosylation disorders, characteristic dysmorphic features and malformations in PMM2-CDG, and overlapping patterns among the currently known glycosylation disorders based on their pathophysiological basis.
Digital Module 10: Rasch Measurement Theory https://ncme.elevate.commpartners.com (2019)

Abstract In this digital ITEMS module, Dr. Jue Wang and Dr. George Engelhard Jr. describe the Rasch measurement framework for the construction and evaluation of new measures and scales. From a theoretical perspective, they discuss the historical and philosophical perspectives on measurement with a focus on Rasch's concept of specific objectivity and invariant measurement. Specifically, they introduce the origins of Rasch measurement theory, the development of model‐data fit indices, as well as commonly used Rasch measurement models. From an applied perspective, they discuss best practices in constructing, estimating, evaluating, and interpreting a Rasch scale using empirical examples. They provide an overview of a specialized Rasch software program ( Winsteps ) and an R program embedded within Shiny ( Shiny_ERMA ) for conducting the Rasch model analyses. The module is designed to be relevant for students, researchers, and data scientists in various disciplines such as psychology, sociology, education, business, health, and other social sciences. It contains audio‐narrated slides, sample data, syntax files, access to Shiny_ERMA program, diagnostic quiz questions, data‐based activities, curated resources, and a glossary.
An iterative algorithm for the construction of notched chirp signals (2010)

This paper describes an iterative algorithm for the design of a constant-modulus finite-duration chirp-like signal having a notch in its frequency spectrum. Frequency-notched signals with good pulse compression properties are needed in wide-band radar systems that must avoid radiating into frequency bands assigned to other systems (e.g. communication and navigation systems). The algorithm is computationally efficient and provides explicit control of the notch frequency and notch order.
Increased Serotonin2 and β-Adrenergic Receptor Binding in the Frontal Cortices of Suicide Victims (1986)

A statistically significant 28% increase in the mean (+/- SD) number of serotonin2 receptors (127.8 +/- 13.4 vs 99.6 +/- 11.1 fmol/mg of protein) and a 73% increase in beta-adrenergic receptor binding (14.5 +/- 1.5 vs 8.4 +/- 1.5 fmol/mg) was found in the frontal cortices of violent suicide victims compared with matched controls. No significant differences were found in the number of serotonin1 binding sites (109.5 +/- 13.4 vs 99.9 +/- 8.8 fmol/mg). We have previously reported a reduced density of presynaptic tritiated imipramine binding sites on serotonergic nerve terminals in the frontal cortices of suicide victims. These data support the hypothesis that suicide completed by violent methods is associated with reduced presynaptic serotonergic activity that has generated compensatory upregulation of the postsynaptic serotonin2 receptor sites. The increase observed in beta-adrenergic binding suggests that there may also be a concomitant reduction in presynaptic noradrenergic activity associated with suicide. If antidepressant pharmacotherapies specifically downregulate cortical beta-adrenergic and/or serotonin2 receptors in depressed subjects, as has been demonstrated in animal studies, and since these effects would be in the opposite direction of the receptor changes found in suicide victims, they may account for the therapeutic action of antidepressants on suicidal behavior and depressive disorders.
Interpretation of Contracts (1996)

Ascertaining the intention of the parties to a contract is a matter of considerable complexity in modern South African law. The difficulties that have beset jurists and courts (in the classical Roman period, in the period of Roman-Dutch law, and still now) are substantially similar. The main theme this is that whereas the theory of contractual formation has moved in a subjective direction — certainly in the last couple of decades in South African law — the construction of the content of a contract has moved in an objective direction. In deciding whether a contract has come into existence, the law has moved from verba to voluntas: from objective formalism to ascertaining real consensus. However, in determining the meaning of a contract we have moved largely from voluntas to verba. The chapter examines the possible explanations for the dichotomy and shows why the underlying theory of contract should also inform our approach to interpretation, and that we need now to seize the opportunity to bring them together. Such a move is not only required by logic and equity, but is in accord with the spirit which prevailed in Roman law and which determined the development of Roman-Dutch contract law.
Constructing Alternated Heterobimetallic [Fe(II)/Os(II)] Supramolecular Polymers with Diverse Solubility for Facile Fabrication of Voltage-Tunable Multicolor Electrochromic Devices (2020)

Metallo-supramolecular polymer (MSP)-based electrochromic devices (ECDs) have drawn much attention because of their variable colors and attractive electrochromic (EC) properties. However, fabrication of voltage-tunable multicolor ECDs using single MSP is yet hard to realize. We anticipated alternate introduction of two different redox-active metal ions in an MSP combined with the adjustment of counteranions could be a solution to fabricate multicolor ECDs. The heterometals will induce color variability upon voltage alteration, and counteranions will help to tune the solubility of MSP in different solvents. In an attempt to fulfill this target, we have synthesized four heterobimetallic supramolecular polymers (HBPs) having different counteranions (BF<sub>4</sub><sup>-</sup>, Cl<sup>-</sup>, PF<sub>6</sub><sup>-</sup>, and OAc<sup>-</sup>), in which Fe(II) and Os(II) are alternately complexed by two terpyridine units. To apply as EC material, the HBPs should be soluble in methanol and insoluble in acetonitrile for the preparation of EC film as well as ECDs. However, among the HBPs, only HBP-OAc is found to meet this requirement. The EC behaviors of the spray-coating film of HBP-OAc on an indium tin oxide (ITO)-coated glass substrate are investigated in terms of maximum transmittance contrast, coloration voltage, response time, coloration efficiency, and operational stability, which exhibits reversible multicolor electrochromism (the initial purple color of the film is changed to violet followed by greenish-yellow) upon alteration of the voltage from 0.0 to 0.7 V [required to oxidize the Os(II) ion] and to 1.0 V [required to oxidize the Fe(II) ion]. The film is also integrated into a laminated ECD by using lithium-based gel electrolyte. Finally, as a proof-of-concept, a prototype voltage-tunable multicolor EC display (6 cm × 2.5 cm) is fabricated by using a designed image containing a flower, leaves, and a flower pot, which exhibits six different types of multicolor image upon application of tunable voltages.
Analysis of the ATDMA/PRMA++ protocol in a mobile satellite system environment (2002)

In this paper an adaptation of the frame and burst structure of the ATDMA/PRMA++ (advanced TDMA packet reservation multiple access) scheme to a mobile satellite environment is given. A new burst structure is presented which was modified from its original terrestrial use in such a way as to adapt to the long propagation delays (as compared to terrestrial networks) and the special behaviour of access schemes in a satellite environment where retransmission of data can only be performed at a loss of quality of service (especially for speech type data). Using three different frame structures which all make use of this new burst, simulation results are provided for the speech burst allocation delay, two approaches to the contention registration procedure and a comparison of the blockage rate of contention registration versus handover registration depending upon the amount of channels reserved for handover use only.
Nanoparticle–Hydrogel Composites: Concept, Design, and Applications of These Promising, Multi‐Functional Materials (2015)

New technologies rely on the development of new materials, and these may simply be the innovative combination of known components. The structural combination of a polymer hydrogel network with a nanoparticle (metals, non-metals, metal oxides, and polymeric moieties) holds the promise of providing superior functionality to the composite material with applications in diverse fields, including catalysis, electronics, bio-sensing, drug delivery, nano-medicine, and environmental remediation. This mixing may result in a synergistic property enhancement of each component: for example, the mechanical strength of the hydrogel and concomitantly decrease aggregation of the nanoparticles. These mutual benefits and the associated potential applications have seen a surge of interest in the past decade from multi-disciplinary research groups. Recent advances in nanoparticle-hydrogel composites are herein reviewed with a focus on their synthesis, design, potential applications, and the inherent challenges accompanying these exciting materials.
Autologous Hematopoietic Stem Cell Transplantation for Diffuse Large B-Cell Lymphoma (2016)

High-dose chemotherapy supported by autologous stem cell support/transplantation (HDT/ASCT) has been a standard of care over the last two decades in patients with relapsed or refractory(R/R) diffuse large B-cell lymphoma (DLBCL), which is sensitive to salvage chemotherapy. HDT/ASCT for high-risk DLBCL in upfront setting remains controversial, so it is not recommended for clinical practice. Various promising salvage chemotherapy regimens have been reported in phase 2 studies; however, two large randomized phase 3 studies showed similar efficacy of R-ICE vs. R-DHAP and R-GDP vs. R-DHAP. Since the registry data shows feasibility and efficacy of HDT/ASCT in elderly R/R DLBCL patients, older age (> 65 years) itself is not a contraindication for HDT/ASCT. Rituximab maintenance failed to demonstrate a significant benefit compared with observation only after HDT/ASCT. While sensitive R/R DLBCL might be cured by HDT/ASCT even in third-line therapy, the prognosis of insensitive R/R DLBCL is extremely poor. Further study to establish treatment strategies for high-risk patients defined by prognostic factors or biomarkers, and insensitive patients is warranted.
Dynamic Ride-Up and Crushing of Short Ice Ridges on Conical Structures (1991)

Abstract An analysis is presented for the plane motion of an ice ridge being pushed up a faceted conical structure by a floe moving at constant velocity. The effect of crushing of the ridge against the rigid structure is included by means of an idealized crushing model. The effect of changing buoyancy is included in the analysis. The plane, rigid-body equations of motion are solved numerically for finite displacement and rotation of the ridge. A quasi-static flexural model is used to determine conditions for failure of the ridge in lengthwise bending. Numerical results for a typical problem are presented and discussed. The impulsive-type contact force at initial impact depends strongly on impact velocity and ice-crushing strength. However, the maximum force on the structure usually occurs later after the ridge has ridden up on the structure. This force is nearly independent of velocity. For realistic crushing strengths, the maximum force is significantly lower than in our previous static analysis of ridge ride-up without crushing. With consideration of lengthwise flexural failure, the dynamic ride-up model is applied to the development of design loads for a 40-deg conical structure.
Gastric biomarkers: a global review (2016)

A deeper understanding of the pathogenesis and biological features of gastric cancer, including the identification and characterization of diagnostic, prognostic, predictive, and therapeutic biomarkers, hopefully will provide improved clinical outcomes.
SIP Proxy Discovery using Anycast Address (2006)

SIP is an application-layer control protocol that can establish,
modify, and terminate multimedia sessions. SIP makes use of elements
called proxy servers to help route requests to and from the user's
current location. Before a SIP request can be sent by a SIP client, an
outbound SIP proxy (first hop proxy) has to be discovered to which the
SIP request can be forwarded. This draft proposes a new method for
discovering the address of first hop outbound SIP proxy server based
on the use of anycast addressing and the SIP OPTIONS request. This new
method can be used with either IPv4 or IPv6, however the description
and examples given in this draft are for IPv6 only.
Chemokines and Pro-Inflammatory Cytokines in Down’s Syndrome: An Early Marker for Alzheimer-Type Dementia? (2002)

The data obtained suggest a possible involvement of chemokines in the inflammatory and degenerative processes similar to AD in DS. Further longitudinal research is required to confirm these findings.
Composition of Polyphenols in Fresh Tea Leaves and Associations of Their Oxygen-Radical-Absorbing Capacity with Antiproliferative Actions in Fibroblast Cells (1996)

The polyphenols in various parts of the tea plant used in manufacture of tea products (young leaves, old leaves, and stem) were analyzed by HPLC. The young leaves (apical bud and the two youngest leaves) were found to be richer (2.7-fold) in polyphenols than old leaves (from the tenth to the fifth leaf). Also, the tea polyphenols were found to be higher (1.4-fold) in summer than in spring. Ten different types of commercial tea (manufactured tea), including unfermented, semifermented, and fermented tea, were analyzed for their polyphenol compounds, and it was found that both yields of solids in tea water extracts (TWEs) and the amount of (−)-epigallocatechin 3-gallate (EGCG) in these products varied with different tea leaves and processing methods. Longjing tea (unfermented green tea) contained the highest concentration of EGCG and polyphenols, whereas Assam black tea (most fermented) contained the least. Longjing TWEs showed strong inhibitory effect on DNA synthesis in A-431 tumor cells. We also found that green tea polyphenols (GTPs) and EGCG strongly inhibited tumor cell DNA synthesis and peroxyl-radical generation. The evidence suggests that the strong antioxidative and antiproliferative activities of Longjing TWEs and GTPs are mainly due to the higher contents of tea polyphenols. EGCG (the major component of GTPs) showed strong inhibitory action on the growth of immortalized cells (NIH3T3) and tumor cells (S-180II) but almost no effect on the growth of normal cells (C3H10T1/2). Keywords: Polyphenols; EGCG; antiproliferative effect; antioxidative effect; tea water extracts
Prognostic Relevance of Response Evaluation Using [<sup>18</sup>F]-2-Fluoro-2-Deoxy-D-Glucose Positron Emission Tomography in Patients With Locally Advanced Non–Small-Cell Lung Cancer (2005)

18FDG PET has additional value over CT in monitoring response to IC in patients with stage IIIA-N2 NSCLC, and it seems feasible to predict survival early during IC. Simple semiquantitative and complex PET methods perform equally well.
High frequency neural spiking and auditory signaling by ultrafast red-shifted optogenetics (2018)

Optogenetics revolutionizes basic research in neuroscience and cell biology and bears potential for medical applications. We develop mutants leading to a unifying concept for the construction of various channelrhodopsins with fast closing kinetics. Due to different absorption maxima these channelrhodopsins allow fast neural photoactivation over the whole range of the visible spectrum. We focus our functional analysis on the fast-switching, red light-activated Chrimson variants, because red light has lower light scattering and marginal phototoxicity in tissues. We show paradigmatically for neurons of the cerebral cortex and the auditory nerve that the fast Chrimson mutants enable neural stimulation with firing frequencies of several hundred Hz. They drive spiking at high rates and temporal fidelity with low thresholds for stimulus intensity and duration. Optical cochlear implants restore auditory nerve activity in deaf mice. This demonstrates that the mutants facilitate neuroscience research and future medical applications such as hearing restoration.
Automatic real‐time three‐dimensional cell tracking by fluorescence microscopy (2004)

Live cell imaging has become an indispensable technique for cell biologists. However, when grown on coverslip glass used for live cell imaging many cultured cells move even during relatively short observation times and focus can drift as a result of mechanical instabilities and/or temperature fluctuations. Time-lapse imaging therefore requires constant adjustment of the imaging field and focus position to keep the cell of interest centred in the imaged volume. We show here that this limitation can be overcome by tracking cells in a fully automated way using the mass centre of cellular fluorescence. Combined with automated multiple location revisiting, this method dramatically increases the throughput of high-resolution live cell imaging experiments.
Tunnel and Bridge Construction with Minimum Disturbance to Overhead Services (1985)

The rapid growth of pipe jacking over the last 20 years and the improvement and development of methods in terms of lengths of drive, size and ability to work in varying ground conditions has been such that pipe jacking has become a fully accepted tunneling method which is often the first choice of many authorities and contractors rather than an alternative. This paper relates to the development and application of pipe jacking techniques for the construction of bridge foundations, abutments, tunnels and culverts. Brief case histories of certain projects are given which demonstrate the main techniques. Refs.
Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey (2013)

Antibodies directed against fetal brain proteins of 37 and 73 kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD. We evaluated the pathogenic potential of these antibodies by using a nonhuman primate model. IgG was isolated from mothers of children with ASD (IgG-ASD) and of typically developing children (IgG-CON). The purified IgG was administered to two groups of female rhesus monkeys (IgG-ASD; n=8 and IgG-CON; n=8) during the first and second trimesters of pregnancy. Another control group of pregnant monkeys (n=8) was untreated. Brain and behavioral development of the offspring were assessed for 2 years. Behavioral differences were first detected when the macaque mothers responded to their IgG-ASD offspring with heightened protectiveness during early development. As they matured, IgG-ASD offspring consistently deviated from species-typical social norms by more frequently approaching familiar peers. The increased approach was not reciprocated and did not lead to sustained social interactions. Even more striking, IgG-ASD offspring displayed inappropriate approach behavior to unfamiliar peers, clearly deviating from normal macaque social behavior. Longitudinal magnetic resonance imaging analyses revealed that male IgG-ASD offspring had enlarged brain volume compared with controls. White matter volume increases appeared to be driving the brain differences in the IgG-ASD offspring and these differences were most pronounced in the frontal lobes.
Haptic Mediations (2020)

During the COVID-19 crisis, living in lockdown and observing social distancing rules have become an integral part of everyday life. In this article, I offer some auto-ethnographic reflections on the increased use of ICTs within families and particularly across generations. Using vignettes relating to communication with my one-year-old granddaughter and my 92-year-old mother, I consider what it means to have the haptic dimensions of kinship relations stripped out and replaced by technologically mediated connection. By way of conclusion, I consider the relationship between the ‘magic’ of ICTs in interpersonal communication on the one hand and Marshall Sahlins’ notion of mutuality on the other.
Translation elongation after assembly of ribosomes on the Cricket paralysis virus internal ribosomal entry site without initiation factors or initiator tRNA (2003)

Reconstitution of translation elongation from purified components confirmed that ribosomes that assembled on the Cricket paralysis virus intercistronic internal ribosomal entry site (IRES) without the involvement of initiation factors or initiator tRNA were active in elongation and are, therefore, true initiation complexes. The first elongation cycle occurred without peptide bond formation on 80S ribosomes that did not contain tRNA in the P site. It required elongation factors 1A and 2 and A site-cognate aminoacylated tRNA. Cycloheximide arrested ribosomes on the IRES only after two cycles of elongation, when the first deacylated tRNA reached the E-site after translocation from the A-site.