gebhart/patrepeval huggingface dataset:
A crowdsourcing database for the copy-number variation of the Spanish population (2023)

SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.
Tetrathiahelicenes: An Infinite Source of Inspiration (2022)

This chapter describes several aspects of the chemistry and application of tetrathia[7]helicene (7-TH). In particular, versatile and complementary synthetic methodologies that allow the obtaining of a wide range of modified 7-TH as well as several functionalization methods are fully described, together with methods to access enantiomerically pure/enriched derivatives. Again, investigation of electronic properties of electroactive 7-TH adducts and potential application as chiral sensors in enantioselective electroanalysis are also reported. Computational studies are described that give information on optical properties of chiral tetrathiahelicene bearing phosphine groups. Application of 7-TH as materials for self-assembly, for molecular spring, in nonlinear-optics, and as photoswitch are also described. The last but one part deals with applications of 7-TH derivatives as chiral ligands in catalysis, both organic and organometallic. This chapter ends with the description of the interaction of 7-TH with biomolecules that allows chiral recognition of specific biomolecules and the assembly of delivery systems.
Intrinsic Disorder in Graphene on Transition Metal Dichalcogenide Heterostructures (2015)

Semiconducting transition metal dichalchogenides (TMDs) are a family of van der Waals bonded materials that have recently received interest as alternative substrates to hexagonal boron nitride (hBN) for graphene, as well as for components in novel graphene-based device heterostructures. We elucidate the local structural and electronic properties of graphene on TMD heterostructures through scanning tunneling microscopy and spectroscopy measurements. We find that crystalline defects intrinsic to TMDs induce substantial electronic scattering and charge carrier density fluctuations in the graphene. These signatures of local disorder explain the significant degradation of graphene device mobilities using TMD substrates, particularly compared to similar graphene on hBN devices.
A validated tool to predict colorectal neoplasia and inform screening choice for asymptomatic subjects (2013)

The scoring system based on age, gender, smoking, family history, Body Mass Index and self-reported diabetes is useful in predicting the risk of colorectal neoplasia.
Einige Reaktionen einfacher Alkene (1999)

ZusammenfassungIm letzten Kapitel haben wir gesehen, daß es eine Reihe verläßlicher Methoden für die Synthese von Alkenen gibt. Wenn man nun ein bestimmtes Alken hergestellt hat, kann man das Molekül dadurch weiter derivatisieren, daß man die Schwäche der π-Bindung nutzt (Kapitel 1). Oft wird die Reaktion über den Angriff eines Elektrophils auf die elektronenreiche Doppelbindung eingeleitet; die stereochemischen Konsequenzen der Reaktion hängen von der Doppelbindungsgeometrie und dem Mechanismus der Reaktion ab. Dies wird in den folgenden Abschnitten aufgezeigt.
The Organization of Clinical Trials for Oncology at IRCCS Istituto Nazionale Tumori “Fondazione G. Pascale” Napoli and the Impact of the OECI Accreditation Process (2015)

The Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Nazionale Tumori "Fondazione G. Pascale" (INT-Pascale) is the largest Clinical Care and Research Cancer Center in Southern Italy. The mission is prevention, diagnosis, and care of cancer and innovative research in oncology. In 2013, INT-Pascale joined the Organisation of European Cancer Institutes (OECI) accreditation and classification project along with other Italian IRCCS cancer centers. One of the major OECI requirements that a cancer center must fulfill in order to achieve and maintain OECI certification is a strong emphasis in translational and clinical research: increasing the number of patients enrolled in clinical trials, establishing easily accessible databases for operators, and informing all possible stakeholders, including patients. A characterizing theme of INT-Pascale is a strong commitment to clinical experimental studies. In the 2007-2014 period, 440 clinical trials were activated at INT-Pascale; in this period, the number of clinical trials and observational studies has had an increment achieving in 2014, respectively, the share of 60 clinical trials and 35 observational studies activated. Optimization of clinical trials management and dissemination of the clinical research culture at INT-Pascale are main objectives to be achieved through several actions and procedures being implemented as a component of the OECI improvement plan. Participation in the OECI program has represented an important challenge to improve quality and processes related to promoting, prioritizing, and monitoring clinical trials at INT-Pascale.
Whole Vitreous Humor Dissection for Vitreodynamic Analysis (2015)

The authors propose an effective technique to isolate whole, intact vitreous core and cortex from post mortem enucleated porcine eyes. While previous studies have shown the results of such dissections, the detailed steps have not been described, precluding researchers outside the field from replicating their methods. Other studies harvest vitreous either through aspiration, which does not maintain the vitreous structure anatomy, or through partial dissection, which only isolates the vitreous core. The proposed method isolates the whole vitreous body, with the vitreous core and cortex intact, while maintaining vitreous anatomy and structural integrity. In this method, a full thickness scleral flap in an enucleated porcine eye is first created and through this, the choroid tissue can be separated from the sclera. The scleral flap is then expanded and the choroid is completely separated from the sclera. Finally the choroid-retina tissue is peeled off the vitreous to leave an isolated intact vitreous body. The proposed vitreous dissection technique can be used to study physical properties of the vitreous humor. In particular, this method has significance for experimental studies involving drug delivery, vitreo-retinal oxygen transport, and intraocular convection.
Current trials in multiple sclerosis: established evidence and future hopes (2005)

Further advances have been made in the treatment of multiple sclerosis patients. On the one hand, we know better how and in whom to use existing medications. On the other hand, it is exciting to witness how increased insight in the pathophysiology of the disease and its symptoms has led to a series of new, innovative treatment modalities.
Development of Vernier Acuity in Childhood (1997)

Children's Vernier thresholds are poorer than would be predicted solely from their decreased foveal photon capture. Therefore cortical immaturity may play a role in children's relative position acuity deficit. R/V ratios (resolution/Vernier thresholds) for the youngest age group are similar to those for adult nonstrabismic amblyopes, but better than for strabismic amblyopes.
Coupling and reactions of novel monolignols: results from DFT calculations (2018)

Poster presentado en el Lignin Gordon Research Conference Towards Viable Solutions for Lignin Valorization August 5 - 10, 2018, (Easton, MA), US
Design considerations of engraved NRD guide for millimeter-wave integrated circuits (2002)

Practical construction of nonradiative dielectric (NRD) guide components such as filters, junctions, or hybrid planar NRD-guide circuits is rather difficult because of the tedious alignment and tolerance requirement of various separate NRD-guide elements. To overcome this hurdle, we present a new scheme called the engraved NRD guide (ENRD). This ENRD guide is an NRD guide whose outline is machined out of a single dielectric block, thereby eliminating the alignment constraint, and allowing a better precision for physical design, realization, and integrity of the overall circuit. Design considerations and procedures of the ENRD guide are studied and discussed in this paper, which suggest the predominance of gap dimension in obtaining a quasi-nonradiative condition with similar propagation properties as a normal NRD guide. It also shows that the amount of dielectric material left in support of the whole structure alignment could greatly affect the leakage level of the guide. An ENRD-guide 90/spl deg/ bend and filter were designed and measured. Investigation of the ENRD-guide filter leads to the characterization of an evanescent LSM/sub 10/ mode in the air gap region between the resonators necessary for reducing its insertion loss.
Engineering of Cry3Bb1 provides mechanistic insights toward countering western corn rootworm resistance (2022)

The western corn rootworm (WCR), <i>Diabrotica virgifera virgifera</i> LeConte (Coleoptera: Chrysomelidae), is an economically important pest of corn (maize) in North America and Europe. Current management practices for WCR involve transgenic expression of insecticidal proteins to minimize larval feeding damage to corn roots. The evolution of resistant WCR populations to transgenic corn expressing insecticidal proteins (e.g. Cry3Bb1, Gpp34Ab1/Tpp35Ab1) necessitates efforts to discover and deploy new modes of action for WCR control. Here, we tested the hypothesis that the addition of short peptides selected for binding to the WCR gut would restore insecticidal activity of Cry3Bb1 to resistant insects. Phage display technology coupled with deep sequencing was used to identify peptides selected for binding to WCR brush border membrane vesicles and to recombinant putative receptors aminopeptidase and cadherin. The binding and specificity of selected peptides was confirmed by ELISA and pull-down assays, and candidate gut surface binding partners were identified. Although production of 284 novel Cry3Bb1 variants with these peptides did not restore activity against resistant WCR in artificial diet bioassays, 112 variants were active against susceptible insects. These results provided insights for the mechanism of Cry3Bb1 activity and toward engineering a new mode-of-action via receptor re-targeting in the context of protein structure and function.
Enzymatic synthesis of novel aromatic‐aliphatic polyesters with increased hydroxyl group density (2022)

A new material with aromatic building blocks and boosted polymer chain reactivity was obtained, which is suggested to find application in various areas of material development from coatings to adhesives.
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians (2007)

This cohort is the largest described with a variable sodium-channel myotonia phenotype caused by a single SCN4A mutation. The clinical variability observed in this cohort underlines the phenotypic heterogeneity of SCN4A mutations and suggests that variants in other genes likely modulate clinical expression.
Stress-Induced Impairment of a Working Memory Task: Role of Spiking Rate and Spiking History Predicted Discharge (2012)

Stress, pervasive in society, contributes to over half of all work place accidents a year and over time can contribute to a variety of psychiatric disorders including depression, schizophrenia, and post-traumatic stress disorder. Stress impairs higher cognitive processes, dependent on the prefrontal cortex (PFC) and that involve maintenance and integration of information over extended periods, including working memory and attention. Substantial evidence has demonstrated a relationship between patterns of PFC neuron spiking activity (action-potential discharge) and components of delayed-response tasks used to probe PFC-dependent cognitive function in rats and monkeys. During delay periods of these tasks, persistent spiking activity is posited to be essential for the maintenance of information for working memory and attention. However, the degree to which stress-induced impairment in PFC-dependent cognition involves changes in task-related spiking rates or the ability for PFC neurons to retain information over time remains unknown. In the current study, spiking activity was recorded from the medial PFC of rats performing a delayed-response task of working memory during acute noise stress (93 db). Spike history-predicted discharge (SHPD) for PFC neurons was quantified as a measure of the degree to which ongoing neuronal discharge can be predicted by past spiking activity and reflects the degree to which past information is retained by these neurons over time. We found that PFC neuron discharge is predicted by their past spiking patterns for nearly one second. Acute stress impaired SHPD, selectively during delay intervals of the task, and simultaneously impaired task performance. Despite the reduction in delay-related SHPD, stress increased delay-related spiking rates. These findings suggest that neural codes utilizing SHPD within PFC networks likely reflects an additional important neurophysiological mechanism for maintenance of past information over time. Stress-related impairment of this mechanism is posited to contribute to the cognition-impairing actions of stress.
Multi-parametric functional ultrasound imaging of cerebral hemodynamics in a cardiopulmonary resuscitation model (2018)

Patient mortality at one year reaches 90% after out-of-hospital cardiac arrest and resuscitation. Temperature management is one of the main strategies proposed to improve patient outcome after resuscitation and preclinical studies have shown neuroprotective effects when hypothermia is achieved rapidly, although the underlying mechanisms have not yet been elucidated. State-of-the-art brain imaging technologies can bring new insights into the early cerebral events taking place post cardiac arrest and resuscitation. In this paper, we characterized cerebral hemodynamics in a post-cardiac arrest rabbit model using functional ultrasound imaging. Ultrasound datasets were processed to map the dynamic changes in cerebral blood flow and cerebral vascular resistivity with a 10 second repetition rate while animals underwent cardiac arrest and a cardiopulmonary resuscitation. We report that a severe transient hyperemia takes place in the brain within the first twenty minutes post resuscitation, emphasizing the need for fast post-cardiac arrest care. Furthermore, we observed that this early hyperemic event is not spatially homogeneous and that maximal cerebral hyperemia happens in the hippocampus. Finally, we show that rapid cooling induced by total liquid ventilation reduces early cerebral hyperemia, which could explain the improved neurological outcome reported in preclinical studies.
Synthesis of isolated optical attosecond pulses (2013)

We report on the synthesis and precise control of isolated, intense attosecond pulses in optical frequencies. We use them to explore new control strategies of electrons in atoms and materials.
Heterogeneity in lipopolysaccharide responsiveness of endothelial cells identified by gene expression profiling: role of transcription factors (2006)

Interindividual differences of endothelial cells in response to endotoxins might contribute to the diversity in clinical outcome among septic patients. The present study was conducted to test the hypothesis that endothelial cells (EC) with high and low proinflammatory potential exist and to dissect the molecular basis underlying this phenomenon. Thirty human umbilical vein endothelial cell (HUVEC) lines were stimulated for 24 h with lipopolysaccharide (LPS) and screened for interleukin (IL)-8 production. Based on IL-8 production five low and five high producers, tentatively called types I and II responders, respectively, were selected for genome-wide gene expression profiling. From the 74 genes that were modulated by LPS in all type II responders, 33 genes were not influenced in type I responders. Among the 41 genes that were increased in both responders, 17 were expressed significantly stronger in type II responders. Apart from IL-8, significant differences in the expression of proinflammatory related genes between types I and II responders were found for adhesion molecules [intercellular adhesion molecule (ICAM-1), E-selectin)], chemokines [monocyte chemoattractant protein (MCP-1), granulocyte chemotactic protein (GCP-2)], cytokines (IL-6) and the transcription factor CCAAT/enhancer binding protein-delta (C/EBP-delta). Type I responders also displayed a low response towards tumour necrosis factor (TNF)-alpha. In general, maximal activation of nuclear factor (NF)-kappaB was achieved in type I responders at higher concentrations of LPS compared to type II responders. In the present study we demonstrate that LPS-mediated gene expression differs quantitatively and qualitatively in types I and II responders. Our results suggest a pivotal role for common transcription factors as a low inflammatory response was also observed after TNF-alpha stimulation. Further studies are required to elucidate the relevance of these findings in terms of clinical outcome in septic patients.
A Non-Human Primate Model for Lentivirus-Mediated Anti-HIV RNAi Strategies. (2004)

Abstract AIDS remains a significant health problem worldwide despite the advent of highly active antiretroviral therapy (HAART). Although substantial efforts have been made to develop a vaccine there is still no cure and alternative strategies are needed to treat HIV infection and to control its spread. Our goal is to evaluate lentiviral vectors that inhibit HIV replication by RNA interference (RNAi) in a non-human primate SHIV model to develop a hematopoietic stem cell (HSC) gene therapy for AIDS. SHIV89.6 P is a chimeric virus comprised of an SIV genome that contains the tat, rev and env genes of HIV and infects both T lymphocytes and macrophages. Infection of non-human primates with SHIV89.6P results in significant decreases in CD4+ T cells as early as 4 weeks post infection, and is currently the best large animal model available to test gene therapy strategies for AIDS. We present here data showing efficient transduction of M. nemestrina CD34+ cells with an HIV-based lentiviral vector and RNAi-mediated inhibition of SHIV89.6 P replication in a hybrid T/B lymphocyte cell line (CEMx174). Although others reported a block to transduction of M. mulatta CD34+ cells with an HIV-based lentiviral vector, we observed efficient transduction rates (» 50%) of M. nemestrina CD34+ cells, comparable to transduction rates observed in human CD34+ cells (» 60%). To determine effectiveness of anti tat/rev shRNA to inhibit SHIV89.6P in vitro, a human T cell/B cell hybrid cell line (CEMx174) was transduced with a lentiviral vector expressing a short-hairpin RNA (shRNA) targeted to both HIV tat and rev sequences that also contained either a GFP reporter gene or a MGMT(G156A) resistance gene at MOIs of 1.3 and 3 respectively. Polyclonal populations of CEMx174 cells transduced with the GFP and MGMT(G156A) vectors were challenged with a 2.15x103 TCID50 dose of SHIV 89.6P. One week post challenge, expression of both tat and rev transcripts was reduced 88% and 97% respectively in these cultures as measured by real-time PCR. In summary, we have shown efficient HIV-based lentiviral transduction of M. nemestrina cells and efficient inhibition of SHIV infection by shRNA against HIV tat and rev thus providing a useful model to test lentiviral-mediated anti-HIV RNAi stem cell gene therapy in vivo.
Product Quality, Informational Efficiency, and Regulations in Experimental Markets (2001)

This study reports on the behavior of experimental markets in which product
quality is endogenously determined and cannot be observed by buyers prior to
purchase. Several theories suggest that with asymmetric information about product
quality between buyers and sellers and the absence of properly defined rules
of liability, markets cannot be expected to generate products of optimal grade.
According to such theories markets will be informationally inefficient. Information
that exists will not be properly used because the wrong people have it. As a
result, products that can be cheaply produced but are of undesirable quality
(lemons) will drive good grade products from the market because buyers
will be improperly informed at the time of purchase. However, very little noncontroversial evidence exists regarding the proposition. Several modes of
behavior and institutions can theoretically intervene to mitigate the problems. In
addition, theories are hard to test because measurements of preferences, cost,
knowledge, and so forth, of sufficient precision to determine whether a market
has failed are difficult in naturally occurring environments. The markets we
created and studied have fewer such complications.
Performance Evaluation of Multilevel Coded FEC with Register-Transfer-Level Emulation (2022)

We demonstrated hardware emulations to evaluate the error-correction performance for a FEC scheme with multilevel coding. It has enabled the measurement of BER to reach the order of 10 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">−14</sup> for the decoded signal.
Parallel turbo coding interleavers: avoiding collisions in accesses to storage elements (2002)

High-speed, low latency convolutional turbo codes require a parallel decoder architecture. To maximise the gain in speed, the interleaver also should have a parallel structure. Here, a class of optimum parallel interleavers regarding the access to storage elements is presented. They combine regularity (easy implementation) with no latency in data transfer between the decoder module and intrinsic/extrinsic values memories, and show excellent BER performance.
Differential effect of interferon on DNA synthesis, 2‐deoxyglucose uptake and ornithine decarboxylase activity in 3T3 cells stimulated by polypeptide growth factors and tumor promotors (1980)

Quiescent 3T3 cells can be stimulated to enter S by defined factors. When used in combination, three polypeptide hormones (EGF, vasopressin, and insulin), or a tumor promotor and insulin, are very effective in stimulating DNA synthesis. Like serum, the defined factors also stimulate deoxyglucose uptake and induce the synthesis of ornithine decarboxylase during G1. The second stage of deoxyglucose uptake and the induction of ornithine decarboxylase are protein synthesis-dependent events. When added with the growth factors, mouse interferon inhibits the synthesis of DNA and the induction of ornithine decarboxylase but has no effect on the uptake of deoxyglucose. Kinetic experiments comparing the effect of inhibitors of translation or transcription on induction of ornithine decarboxylase with the effect of interferon suggest that interferon may affect the synthesis of enzyme by inhibiting both transcription and translation of message. The findings provide further support for the proposition that interferon exerts a differential effect on mitogen-stimulated events events which are dependent on continuous protein synthesis.
Monoterpene Biosynthesis (1992)

The enzymatic conversion of geranyl pyrophosphate to the bicyclic olefin (+)-sabinene initiates a sequence of reactions responsible for the formation of the C3-oxygenated thujane family of monoterpenes in plants. A sabinene cyclase has been isolated from the leaves garden sage (Salvia officinalis), and a broad range of specifically-labeled substrates and substrate analogs has been employed to examine the reaction catalyzed by this enzyme. The results obtained define the overall stereochemistry of the coupled isomerization-cyclization of geranyl pyrophosphate (via 3R-linalyl pyrophosphate) to (+)-sabinene, demonstrate a 1,2-hydride shift in the construction of the thujane skeleton, and confirm the electrophilic nature of this enzymatic reaction type.
Supplementary Figure 2 from Identification of Existing Drugs That Effectively Target <i>NTRK1</i> and <i>ROS1</i> Rearrangements in Lung Cancer (2023)

&lt;p&gt;Comparison of compound libraries reported in ROS1 kinase screens&lt;/p&gt;