gebhart/patrepeval huggingface dataset:
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism (2011)

The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well.
The world through a lens: the vision of Sir Harold Ridley (2009)

Sir Harold Ridley is recognised today as the inventor of intraocular lens implantation, one the most successful and common procedures in all of surgery. His story, however, is not largely one of triumph and public accolade. This paper reviews Ridley9s invention of the intraocular lens and highlights the struggles he faced after his discovery.
Reaction of Terminal Phosphinidene Complexes [RP−W(CO)5] with (2-Oxopropylidene)triphenylphosphorane. Synthesis and X-ray Crystal Structure Analysis of 1,2,5-Oxadiphospholene Complexes (2002)

The reaction of transient terminal phosphinidene complexes [RP−W(CO)5] (R = Ph, Me) with (2-oxopropylidene)triphenylphosphorane in refluxing toluene yields the corresponding five-membered cyclic 1,2,5-oxadiphospholene complexes. An initial reaction at the carbonyl group is postulated. The X-ray crystal structure analysis of the phenyl derivative shows a planar ring with trans phenyl groups.
The effects of beta-arrestin1 deletion on acute cannabinoid activity, brain cannabinoid receptors and tolerance to cannabinoids in mice (2015)

Context: Previous studies have indicated a role for beta-arrestin2 in the regulation of brain cannabinoid effects and cannabinoid CB1 receptors, but whether beta-arrestin1 has a role has not been investigated. Objective: To determine the role of beta-arrestin1 in cannabinoid activity. Materials and methods: Beta-arrestin1 −/− mice and their wild-type (+/+) counterparts were assayed for antinociceptive and temperature-decreasing effects of two ligands, Δ9-tetrahydrocannabinol (THC) and CP55940, after both single and repeated administration. In vitro assays examined the effects of deletion on CB1 receptor density, agonist-binding and G-protein activation. Results: Deletion of beta-arrestin1 diminished the effects of CP55940 in both antinociception (latency to tail withdrawal) and temperature-depression assays in mice. However, deleting beta-arrestin1 had no effect on the actions of THC in either assay. Antagonist radioligand ([3H]SR141716A) saturation binding indicated no difference between beta-arrestin1 +/+ and −/− mice in the density or affinity for cannabinoid CB1 receptors in brain membranes. CP55940 agonist binding in brain membranes from beta-arrestin1 +/+ mice exhibited high- and intermediate-affinity sites, but beta-arrestin1 −/− membranes exhibited an additional site with low affinity. CP55940 produced greater stimulation of [35S]GTPγS binding to membranes from whole brain of beta-arrestin1 −/− than +/+ mice. The rates of the development of tolerance to chronic THC or CP55940 administration did not appear to be affected by genotype. Discussion: Beta-arrestin1 appeared to mediate the actions of CP55940, but did not affect the activity of THC. Conclusion: Beta-arrestin1 regulates cannabinoid CB1 receptor sensitivity in an agonist-selective manner, but may not be the primary mediator of tolerance to cannabinoid agonists.
Draft Genome Sequence of Salmonella enterica subsp. enterica Serovar Give, Isolated from an Imported Chili Powder Product (2015)

We report the genome sequence of Salmonella enterica subsp. enterica serovar Give (CFSAN012622), isolated from imported chili powder in 2014. This genome contains genes previously reported to be specific only to S. enterica serovar Enteritidis. This strain shows a unique pulsed-field gel electrophoresis (PFGE) pattern clustering with serovar Enteritidis (JEG X01.0005).
Recognition-dependent Signaling Events in Response to Apoptotic Targets Inhibit Epithelial Cell Viability by Multiple Mechanisms (2012)

Apoptosis allows for the removal of damaged, aged, and/or excess cells without harm to surrounding tissue. To accomplish this, cells undergoing apoptosis acquire new activities that enable them to modulate the fate and function of nearby cells. We have shown that receptor-mediated recognition of apoptotic versus necrotic target cells by viable kidney proximal tubular epithelial cells (PTEC) modulates the activity of several signaling pathways critically involved in regulation of proliferation and survival. Generally, apoptotic and necrotic targets have opposite effects with apoptotic targets inhibiting and necrotic targets stimulating the activity of these pathways. Here we explore the consequences of these signaling differences. We show that recognition of apoptotic targets induces a profound decrease in PTEC viability through increased responder cell death and decreased proliferation. In contrast, necrotic targets promote viability through decreased death and increased proliferation. Both target types mediate their effects through a network of Akt-dependent and -independent events. Apoptotic targets modulate Akt-dependent viability in part through a reduction in cellular β-catenin and decreased inactivation of Bad. In contrast, Akt-independent modulation of viability occurs through activation of caspase-8, suggesting that death receptor-dependent pathways are involved. Apoptotic targets also activate p38, which partially protects responders from target-induced death. The response of epithelial cells varies depending on their tissue origin. Some cell lines, like PTEC, demonstrate decreased viability, whereas others (e.g. breast-derived) show increased viability. By acting as sentinels of environmental change, apoptotic targets allow neighboring cells, especially non-migratory epithelial cells, to monitor and potentially adapt to local stresses.
Towards tailored hierarchical structures in cellulose nanocomposite biofoams prepared by freezing/freeze-drying (2010)

Cellulose nanofiber (MFC) reinforced starch-based foams, prepared by the freezing/freeze-drying route, are very interesting porous materials due to the strong MFC reinforcement of the cell wall itself. However, in order to fully realize the potential of these nanocomposite biofoams, both cell wall composition and cell structure must be controlled. The effect of starch–MFC–water suspension composition, together with preparation temperature (−27, −78, and −196 °C) on the foam cell structure is investigated. NMR-analysis of bound water content, DSC and freezing experiments in combination with freeze-drying experiments and FE-SEM microscopy are used to determine a suitable freeze-drying temperature. The freeze-drying temperature is critical in order to avoid cell structure collapse, as found from FE-SEM studies. By varying the cell-wall composition and preparation temperature, the foam morphology can be manipulated. The connection between cell size and starch content is considered to depend on the inherent properties of starch and a mechanism for ice crystal formation is suggested. Based on improved preparation conditions, foams with mixed open and closed cell structures and as much as 70 wt% MFC in the cell wall are created successfully.
Link State Over Ethernet (2019)

Used in Massive Data Centers (MDCs), BGP-SPF and similar protocols
need link neighbor discovery, link encapsulation data, and Layer 2
liveness. The Link State Over Ethernet protocol provides link
discovery, exchanges supported encapsulations (IPv4, IPv6, ...),
discovers encapsulation addresses (Layer 3 / MPLS identifiers) over
raw Ethernet, and provides layer 2 liveness checking. The interface
data are pushed directly to a BGP API (for LSVR), obviating the need
for centralized topology distribution architectures. This protocol is
intended to be more widely applicable to other upper layer routing
protocols which need link discovery and characterisation.
Biomechanical comparison of single- and dual-lead pedicle screws in cadaveric spine (2008)

Barring the effect of BMD, this in vitro biomechanical test showed no significant difference in MPF between single- and dual-lead PSs. Dual-lead PSs can be used to achieve a faster insertion time, without compromising pullout force.
Controlled ring‐opening polymerization of ε‐caprolactone using polymer‐supported scandium catalyst (2008)

Ring-opening polymerization (ROP) of ε-caprolactone using a polymer-supported scandium catalyst (PS-Sc) under mild conditions made it possible to synthesize poly(ε-caprolactone) (Mn = 4.1–10.8 × 103) with narrow polydispersity (Mw/Mn = 1.12–1.22). The propagation rates were comparable to that catalyzed by scandium trifluoromethanesulfonate [Sc(OTf)3]. After polymerization, the catalyst was easily recovered and can be reused for the ROP.
Trap-mediated excitation of Er3+ photoluminescence in Er-implanted GaN (1997)

Site-selective photoluminescence (PL) spectra obtained at 6 K from the 1540 nm I413/2→I415/2 emissions characteristic of four distinct Er3+ centers in Er-implanted films of GaN are compared with the Er3+ PL excited by 325 nm above-gap pump light. Two of the site-selective 1540 nm Er3+ PL spectra pumped by below-gap, trap-mediated excitation bands dominate the Er3+ PL spectrum excited by above-gap light. A third broad band-excited spectrum and a fourth spectrum pumped by direct Er3+ 4f-band absorption are apparently not strongly excited by above-gap light. These results indicate that trap-mediated excitation dominates above-gap pumping of Er3+ emission in GaN:Er, and suggest an explanation for the reduced thermal quenching of Er3+ emission in GaN.
INHERITANCE PATTERN OF BRUISING SENSITIVITY TRAIT IN AGARICUS BISPORUS (2011)

Bruising during mechanical harvesting causes discoloration of button mushrooms (Agaricus bisporus), which leads to a shorter shelf life and lower quality. A full automation of harvesting is technologically feasible but requires the availability of strains that are less susceptible to mechanical bruising. Investigating the inheritance of traits and identification of the QTLs are prerequisites for gene discovery and trait introgression breeding. Here, we studied the inheritance of the bruising sensitivity of A. bisporus through inter-crossing between homokaryons with extreme insensitivity and sensitivity. We screened a large number of genetically unrelated strains for discoloration of cap tissue after mechanical damage, and phenotyping of bruising sensitivity trait was processed by computer image analysis. From a number of these lines, the parental nuclear haplotypes were recovered via a protoplasting technique. These so called homokaryons were inter-crossed in all possible combinations, and hybrids were tested for bruising sensitivity. Performance of each homokaryon was thus tested in different genetic background revealing differences in expression of the trait. According to the expression of the trait, homokaryons of three different heterokaryotic strains were found to have obvious different inheritance patterns. The differences in inheritance of bruising sensitivity point to the possible involvement of different mechanisms.
Real-Life effects of benralizumab on exacerbation number and lung hyperinflation in atopic patients with severe eosinophilic asthma (2020)

In conclusion, our results suggest that via its anti-eosinophil actions benralizumab improved airflow limitation, lung hyperinflation, and respiratory symptoms, as well as lowered asthma exacerbation rate and abrogated OCS consumption in most patients.
Allograft Tibial Plateau Fracture (2001)

Connolly, Leonard P. M.D.; Connolly, Susan A. M.D.; Treves, S. Ted M.D. Author Information
Gating effect for gas adsorption in microporous materials—mechanisms and applications (2022)

In the past two decades, various microporous materials have been developed as useful adsorbents for gas adsorption for a wide range of industries. Considerable efforts have been made to regulate the pore accessibility in microporous materials for the manipulation of guest molecules' admission and release. It has long been known that some microporous adsorbents suddenly become highly accessible to guest molecules at specific conditions, <i>e.g.</i>, above a threshold pressure or temperature. This anomalous adsorption behavior results from a gating effect, where a structural variation of the adsorbent leads to an abrupt change in the gas admission. This review summarizes the mechanisms of the gating effect, which can be a result of the deformation of the framework (<i>e.g.</i>, expansion, contraction, reorientation, and sliding of the unit cells), the vibration of the pore-keeping groups (<i>e.g.</i>, rotation, swing, and collapse of organic linkers), and the oscillation of the pore-keeping ions (<i>e.g.</i> cesium, potassium, <i>etc.</i>). These structural variations are induced either by the host-guest interaction or by an external stimulus, such as temperature or light, and account for the gating effect at a threshold value of the stimulus. Emphasis is given to the temperature-regulated gating effect, where the critical admission temperature is dictated by the combined effect of the gate opening and thermodynamic factors and plays a key role in regulating guest admission. Molecular simulations can improve our understanding of the gate opening/closing transitions at the atomic scale and enable the construction of quantitative models to describe the gated adsorption behaviour at the macroscale level. The gating effect in porous materials has been widely applied in highly selective gas separation and offers great potential for gas storage and sensing.
Clinical outcomes after the arterial switch operation for transposition. Patient, support, procedural, and institutional risk factors. Congenital Heart Surgeons Society. (1992)

Good early and intermediate-term clinical outcomes can be obtained in neonates with simple transposition and transposition and ventricular septal defect by use of the arterial switch operation. Certain coronary artery patterns and certain institutions lessen the goodness of outcome.
ChemInform Abstract: 2‐Ethynylpyridine‐Promoted Rapid Copper(I) Chloride Catalyzed Azide—Alkyne Cycloaddition Reaction in Water. (2013)

Abstract The catalyst system is generally highly active at room temperature.
Lung carcinoma with metastasis to testicular seminoma (1990)

Tumor-to-tumor metastases are uncommon. The most frequent donor tumors are the lung, whereas renal cell carcinoma is by far the most common recipient. In this report the authors describe a lung tumor that metastasized to a testicular seminoma. This is the first reported case of tumor-to-tumor metastases in which seminoma of the testis is the recipient. The authors performed mucin and immunohistochemical studies on this case and on ten cases of nonseminomatous germ cell tumors containing embryonal carcinoma and endodermal sinus tumor for comparison. Mucin positivity as well as immunoreactivity for epithelial membrane and carcinoembryonic antigens were confined to metastatic adenocarcinoma in this case, whereas Ki-1 and alpha-fetoprotein immunostaining were restricted to the ten control cases of germ cell tumors. Although the majority of second malignant components found in a seminoma are other nonseminomatous germ cell components, the rare possibility exists that a second malignant component is a metastasis from elsewhere in the body.
Step responses of radio-frequency capacitively coupled discharges (1997)

Models capturing the periodic steady-state behavior of rf capacitively coupled discharges are now commonplace. New plasma sources have been motivated by selectivity, charge-damage mitigation, and general process control needs in plasma processing of electronic materials. These new sources require models that can accurately capture the transient behavior of the plasma source. Such models are not commonplace because the behavior of transport parameters in transients is still not well understood and because the problem is inherently stiff, i.e., widely disparate time scales are important. In this paper, we present the results of an investigation of the simplest type of transient, known as a step disturbance, in a 2 cm gap parallel-plate argon discharge at 1 Torr. As examples, two classes of step transients are considered: step increases in the peak-to-peak (pp) applied voltage (300 to up to 450 V pp) and step decreases (300 to as low as 150 V pp). The resulting transients are interpreted in terms of time scales representative of electron and ion motion in the sheath, ionization dynamics, and neutral transport processes. The possibility of using these transients as a means of process identification is discussed.
2‐oxoglutarate modulates the affinity of FurA for the ntcA promoter in Anabaena sp. PCC 7120 (2019)

2-oxoglutarate (2-OG) is a central metabolite that acts as a signaling molecule informing about the status of the carbon/nitrogen balance of the cell. In recent years, some transcriptional regulators and even two-component systems have been described as 2-OG sensors. In the nitrogen-fixing cyanobacterium Anabaena sp. PCC 7120, two master regulators, NtcA and FurA, are deeply involved in the regulation of nitrogen metabolism. Both of them show a complex intertwined regulatory circuit to achieve a suitable regulation of nitrogen fixation. In this work, 2-OG is found to bind FurA, modulating the specific binding of FurA to the ntcA promoter. This study provides evidence of a new additional control point in the complex network controlled by the NtcA and FurA proteins.
Introduction to Automated Particle Analysis (1996)

Abstract A microscopist is presented with a special problem when asked to characterize a population of particles. In order to adequately describe the sample, it may be necessary to examine hundreds or even thousands of individual particles, recording the size, shape, identity or other parameters of interest. To manually characterize a statistically significant fraction of the sample could require many hours of tedious work at the scope, followed by still more tedious hours of data reduction. What is needed is a technique to automate the repetitive parts of this process: the recognition and characterization of particles in the sample and the reduction of data and presentation of results. This technique is automated particle analysis.
Microscale Two-Phase Flow Structure in a Modified Gas–Solid Fluidized Bed (2014)

Transient signals were registered in a modified fluidized bed and statistically analyzed. Particle agglomerates in the emulsion were identified from signals and the agglomerate properties were investigated. The volume fraction of the bubble phase varied from 0.16 to 0.52 with operation pattern and spatial positions. Mean solid holdup and its standard deviation inside bubbles significantly increased when operation pattern transitioned from bubbling fluidization to turbulent fluidization, while the increasing tendency leveled off in the turbulent regime. The volume fraction of particle agglomerates in the emulsion decreased with increasing superficial gas velocity, varying over the range of 0.2–0.65 with flow regimes. Agglomerate solid holdup slightly fluctuated in the range of 0.608–0.63, barely influenced by switch of operation pattern. Agglomerate frequency varied over the range of 1.5–3.7 Hz and the duration time was <0.3 s for most cases. The correlations of agglomerate volume fraction and frequency were proposed. The terminal velocity and the size of the effective agglomerates in the emulsion phase were calculated via a modified Richardson–Zaki equation and found to be 4.16 m/s and 1.19 mm, respectively.
Relación entre los componentes ópticos oculares e implicaciones en el proceso de emetropización (2008)

Differences in optical parameters of the human eye displayed different associations in longer eyes. A lack of correlation was seen between ocular components in eyes with higher myopia, corresponding to myopia in excess of 2.00 D.
Distribution and genomic location of active insertion sequences in the Burkholderia cepacia complex (2005)

This study aimed firstly to establish the distribution and copy number within the Burkholderia cepacia complex of three insertion sequences (IS402, IS407 and IS1416) that possess the ability to activate transcription and hence influence gene expression. A second aim was to map the genomic insertion sites of one of the active insertion sequences (IS407) to establish putative links between insertion site and downstream gene activation. The resulting data revealed that all three insertion sequences were present in one-third of the 66 isolates tested. The three insertion sequences were prevalent across the nine B. cepacia complex species, although IS402 was absent from the 16 Burkholderia anthina strains tested and IS407 was absent from all 10 Burkholderia pyrrocinia strains. IS407 copies from six strains (two Burkholderia cenocepacia strains and one strain each of Burkholderia multivorans, Burkholderia stabilis, Burkholderia vietnamiensis and B. anthina) were mapped to the genome using hemi-nested inverse PCR. Insertions were found upstream of genes with wide-ranging functions. This study suggests that the abundance and distribution of these active insertion sequences is likely to affect genomic plasticity, and potentially gene transcription and pathogenicity.
Systems and control education: a drug infusion case study (2003)

A continuous drug infusion case study has been developed for use in dynamics and control courses. We have used the case study to reinforce identification and control techniques developed throughout the course, and to illustrate system-specific problems that arise in drug infusion control.