gebhart/patrepeval huggingface dataset:
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 (2022)

In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. While prior reports, often in populations with high rates of consanguinity, have established a general phenotype, there is a lack of systematic investigations and a limited understanding of age-dependent manifestation of symptoms. Here we delineate the clinical, neuroimaging and molecular features of 44 individuals from 36 families, the largest cohort assembled to date. Median age at last follow-up was 23.8 years covering a wide age range (11-61 years). While symptom onset often occurred in early childhood [median: 24 months, interquartile range (IQR) = 24], a molecular diagnosis was reached at a median age of 18.8 years (IQR = 8), indicating significant diagnostic delay. We demonstrate that most patients present with motor and/or speech delay or learning disabilities. Importantly, these developmental symptoms preceded the onset of motor symptoms by several years. Progressive spasticity in the lower extremities, the hallmark feature of HSP-ZFYVE26, typically presents in adolescence and involves the distal lower limbs before progressing proximally. Spasticity in the upper extremities was seen in 64%. We found a high prevalence of extrapyramidal movement disorders including cerebellar ataxia (64%) and dystonia (11%). Parkinsonism (16%) was present in a subset and showed no sustained response to levodopa. Cognitive decline and neurogenic bladder dysfunction progressed over time in most patients. A systematic analysis of brain MRI features revealed a common diagnostic signature consisting of thinning of the anterior corpus callosum, signal changes of the anterior forceps and non-specific cortical and cerebellar atrophy. The molecular spectrum included 45 distinct variants, distributed across the protein structure without mutational hotspots. Spastic Paraplegia Rating Scale scores, SPATAX Disability Scores and the Four Stage Functional Mobility Score showed moderate strength in representing the proportion of variation between disease duration and motor dysfunction. Plasma neurofilament light chain levels were significantly elevated in all patients (Mann-Whitney U-test, P < 0.0001) and were correlated inversely with age (Spearman's rank correlation coefficient r = -0.65, P = 0.01). In summary, our systematic cross-sectional analysis of HSP-ZFYVE26 patients across a wide age-range, delineates core clinical, neuroimaging and molecular features and identifies markers of disease severity. These results raise awareness to this rare disease, facilitate an early diagnosis and create clinical trial readiness.
Reaction of formaldehyde with phenols: a computational chemistry study. (2001)

Phenolic resins are important adhesives used by the forest products industry. The phenolic compounds in these resins are derived primarily from petrochemical sources. Alternate sources of phenolic compounds in-clude tannins, lignins, biomass pyrolysis products, and coal gasification products. Because of variations in their chemical structures, the reactivities of these phenolic compounds with formaldehyde vary in quite subtle ways. A method is needed for predicting the reactivity of phenolic compounds with formaldehyde in order to al-low researchers to efficiently choose those compounds that might make the best candidates for new adhesive systems prior to conducting extensive laboratory trials. Computational chemistry has been used to study the relationship between the reactivity of a number of phe-nolic compounds with formaldehyde in an aqueous, al-kaline system, and charges calculated for reactive sites on the aromatic ring of the phenolic compound. Atomic-charges for each phenolic compound were cal-culated by ab initio methods at the RHF/6-31 +G level of theory using the ChelpG method. Reaction rate con-stants were determined from measurements of the con-centrations of the phenolic compounds and formalde-hyde as functions of time. The reaction rate constants varied over a wide range (approx. 10-2 to 10 4 L mol-1 hr.-1). An estimate of the reactivity per reactive site on the phenolic ring was determined by dividing the rate constant by the number of reactive sites. The charge per reactive site was estimated by summing the charges at all the reactive sites on the phenolic ring and dividing by the number of reactive sites. A strong correlation was observed between the reactivity per reactive site and the average charge per reactive site.
Coupling of growth arrest and differentiation at a distinct state in the G1 phase of the cell cycle: GD. (1982)

The differentiation of most mammalian cells is preceded by growth arrest in the G1 phase of the cell cycle, but the characteristics of this state have not been established. We now report that the growth arrest that precedes the differentiation of BALB/c 3T3 T mouse proadipocytes must occur at a distinct state in G1 designated GD. GD-arrested cells are characterized by their ability to differentiate in the absence of DNA synthesis and by their unique sensitivity to the mitogenic effect of isobutylmethylxanthine. Proadipocytes induced to become G1 growth arrested at other states by culture in medium deficient in growth factor or nutrients, by contrast, are unable to differentiate in the absence of DNA synthesis and are not stimulated to proliferate by isobutylmethylxanthine even when they are exposed to differentiation-promoting medium prior to arrest. These data support the conclusion that, prior to the expression of a differentiated phenotype, proadipocytes must arrest their growth at a distinct state in the G1 phase of the cell cycle, GD. These data also provide the basis for the hypothesis that carcinogenesis is associated with defects in the coupling of growth arrest and differentiation at the GD state.
Does the phase of ongoing EEG oscillations predict auditory perception? (2020)

Summary Effective processing of information from the environment requires the brain to selectively sample relevant inputs. The visual perceptual system has been shown to sample information rhythmically, oscillating rapidly between more and less input-favorable states. Evidence of parallel effects in auditory perception is inconclusive. Here, we combined a bilateral pitch-identification task with electroencephalography (EEG) to investigate whether the phase of ongoing EEG predicts auditory discrimination accuracy. We compared prestimulus phase distributions between correct and incorrect trials. Shortly before stimulus onset, each of these distributions showed significant phase concentration, but centered at different phase angles. The effects were strongest in theta and beta frequency bands. The divergence between phase distributions showed a linear relation with accuracy, accounting for at least 10% of inter-individual variance. Discrimination performance oscillated rhythmically at a rate predicted by the neural data. These findings indicate that auditory discrimination threshold oscillates over time along with the phase of ongoing EEG activity. Thus, it appears that auditory perception is discrete rather than continuous, with the phase of ongoing EEG oscillations shaping auditory perception by providing a temporal reference frame for information processing.
Foundations of Colloid Science (1987)

Introduction to statistical mechanics of fluids Adsorption from Solution The electrokinetic effects The structure of concentrated dispersions Thin films Emulsions Microemulsions Rheology of colloidal dispersions.
Improved asymmetry of gait in Parkinson's disease with DBS: Gait and postural instability in Parkinson's disease treated with bilateral deep brain stimulation in the subthalamic nucleus (2008)

Postural instability is a sign of progression of Parkinson's disease (PD) and often resistant to levodopa treatment. To explore the effect of bilateral deep brain stimulation (DBS) of the subthalamic nucleus (STN) on postural stability and gait, full body gait analyses were performed without medication, OFF and ON DBS in eight PD patients and 12 healthy age-matched controls. DBS setting was changed at least 3 hours before gait analysis. To describe asymmetry most and least affected sides (MAS and LAS) were rated with the Unified Parkinson's Disease Rating Scale, motor part and quantitative gait analysis with the Vicon 612 gait analysis system. Stride length and gait velocity but not cadence improved ON DBS. The distances between the heel markers and center of mass (COM) were asymmetric and reduced OFF DBS. STN DBS increased the distances significantly and reduced asymmetry. The improvement in heel to COM distance was larger on the MAS compared with the LAS. OFF DBS knee momentum asymmetry was inversed so that LAS was more impaired than MAS. ON DBS asymmetry improved. PD patients OFF DBS place the heel too close to COM. The most affected body side has the most impaired swing and the result is a smaller knee moment on the opposite and least affected body side and an asymmetric gait pattern with disturbed balance OFF STN DBS. The asymmetry OFF DBS improved ON DBS. We suggest that DBS facilitates symmetric gait and thereby improves balance during gait.
Record-peak-power all-fiber single-frequency 1550 nm laser (2014)

In this paper, we present results on the amplification of 2 MHz linewidth nanosecond pulses in a recently developed ytterbium-free erbium-doped large mode area fiber cladding pumped at 980 nm. A record peak power of 4 kW for single-frequency single-mode silica-based fiber sources near 1550 nm is demonstrated. Pulse instabilities arising in an all-fiber laser scheme from stimulated Brillouin scattering are described.
Exploiting task and data parallelism on a multicomputer (1993)

For many applications, achieving good performance on a private memory parallel computer requires exploiting data parallelism as well as task parallelism. Depending on the size of the input data set and the number of nodes (i.e., processors), different tradeoffs between task and data parallelism are appropriate for a parallel system. Most existing compilers focus on only one of data parallelism and task parallelism. Therefore, to achieve the desired results, the programmer must separately program the data and task parallelism. We have taken a unified approach to exploiting both kinds of parallelism in a single framework with an existing language. This approach eases the task of programming and exposes the tradeoffs between data and task parallelism to compiler. We have implemented a parallelizing Fortran compiler for the iWarp system based on this approach. We discuss the design of our compiler, and present performance results to validate our approach.
Operating system support for overlapping-ISA heterogeneous multi-core architectures (2010)

A heterogeneous processor consists of cores that are asymmetric in performance and functionality. Such a design provides a cost-effective solution for processor manufacturers to continuously improve both single-thread performance and multi-thread throughput. This design, however, faces significant challenges in the operating system, which traditionally assumes only homogeneous hardware. This paper presents a comprehensive study of OS support for heterogeneous architectures in which cores have asymmetric performance and overlapping, but non-identical instruction sets. Our algorithms allow applications to transparently execute and fairly share different types of cores. We have implemented these algorithms in the Linux 2.6.24 kernel and evaluated them on an actual heterogeneous platform. Evaluation results demonstrate that our designs efficiently manage heterogeneous hardware and enable significant performance improvements for a range of applications.
Determination of Formaldehyde in Cigarette Smoke (1997)

Formaldehdye is considered a hazardous air pollutant with numerous sources that include environmental tobacco smoke (ETS). With the increasing interest regarding ETS and public health the measurement of formaldehyde readily lends itself to a laboratory experiment comparing methods of analysis. This experiment involves the collection, derivatization, extraction, and analysis of formaldehyde from cigarette smoke using two methods. Formaldehyde is extracted from smoke and derivitized with a solution of 2,4-DNPH with subsequent cleanup by solid-phase extraction and analysis of the hydrazone by HPLC with UV detection; additionally a solution of cysteamine yields the corresponding thiazolidine derivative that is liquid/liquid extracted and subsequentlyanalyzed by either GC with NPD or FPD (sulfur mode). Reasonable agreement among the methods was obtained by labdemonstrators with spike recoveries yielding 94.7 + 6.8 (n=5) and 89.2 (n = 4) % for NPD and FPD, respectively while HPLC spiked recoveries were 83.6 + 3.2 (n = 5) %; mean class spike recoveries ranged from 80-100%. Student results (in mg/cigarette) from smoke samples were similar to literature values with 163.2 + 69.2 (n = 7) and 149.4 (n = 7) % for NPD and FPD, respectively; the HPLC result was significantly lower at 45.1 + 23.7(n = 7) with losses presumably due to hydrazone precipitating from the smoke extracted solution. Students particularly benefited from the "real world" nature of the analysis and the experience evaluating disparate methods of determining a common analyte.
Tunable Photochromism of Spirobenzopyran via Selective Metal Ion Coordination:  An Efficient Visual and Ratioing Fluorescent Probe for Divalent Copper Ion (2008)

In the present paper, a new spirobenzopyran derivative was synthesized and applied in simultaneously colorimetric and fluorescence ratiometric detections of Cu2+. In contrast to the virtually photochromic character of the common spirobenzopyrans in most organic solvents, this spirobenzopyran is colorless in organic aqueous solution even irradiating by ultraviolet light. The formation of red merocyanine in an ethanol-aqueous solution is only induced by Cu2+ coordination. Furthermore, the closed form of the spirobenzopyran is highly fluorescent. Upon complexation with Cu2+, it displays not only decreasing in the initial fluorescence emission band but also appearing in a new emission at long wavelength. Thus, the Cu2+ quantitative measure can be achieved by fluorescence ratiometry. With the optimum conditions described, the Cu2+ concentration can be determined from 5.13 x 10(-7) M to 3.81 x 10(-4) with a detection limit of 1.06 x 10(-7) M. Both the color and the fluorescence changes of the spirobenzopyran are extremely specific for Cu2+ over biologically relevant substrates, which meet the selectivity requirements for biomedical application. Serum divalent copper values were determined using this spirobenzopyran, which fell into the normal range of the content reported in the literature and were in good agreement with those obtained by atomic absorption spectroscopy. The combined data from fluorescence titrations and 1H NMR measurements indicate that the new emission of the spirobenzopyran generated by Cu2+ is the result of the metal-induced ring opening and conformation restriction by Cu2+ liganding with the opened merocyanine form and the subsequent reduction of the intramolecular charge transfer of the merocyanine.
Cortical mapping of naming errors in aphasia (2009)

Persons with aphasia vary greatly with regard to clinical profile; yet, they all share one common feature-anomia-an impairment in naming common objects. Previous research has demonstrated that particular naming errors are associated with specific left hemisphere lesions. However, we know very little about the cortical activity in the preserved brain areas that is associated with aphasic speech errors. Utilizing functional magnetic resonance imaging (fMRI), we show for the first time that specific speech errors are associated with common cortical activity in different types and severities of aphasia. Specifically, productions of phonemic errors recruited the left posterior perilesional occipital and temporal lobe areas. A similar pattern of activity was associated with semantic errors, albeit in the right hemisphere. This study does not discount variability in cortical activity following left hemisphere stroke; rather, it highlights commonalities in brain modulation in a population of patients with a common diagnosis but vastly different clinical profiles.
Toll-like receptors types 2 and 6 and the apoptotic process in human neutrophils (2006)

The obtained results suggest that not only TLR2, but also TLR6 plays an important role in the regulation of the apoptosis of PMNs. Changes in the expression of TLR6 and inhibition of apoptosis of PMNs by rhIL-18 seem to confirm the vital role this receptor and of rhIL-18 in regulating the survival of these cells. These data can be useful in developing methods to regulate PMN apoptosis in conditions associated with their excessive and unfavorable activation.
Population dynamics of rhizosphere microflora of mycorrhizal and non-mycorrhizal barley (Hordeum vulgare) in organic amended soils (2004)

A pot experiment was conducted to study the response of barley (Hordeum vulgare) to inoculation with Glomus fasciculatum in unsterilised organic matter amended soils on the colonization of barley roots by (V)-Arbuscular mycorrhizal (AM) fungi and other rhizosphere microflora. The populations of bacteria, fungi and actinomycetes were higher in amended than in control soils. Paddy straw compost (PSC) stimulated all three groups of organisms (bacteria, fungi and actinomycetes) more than city compost (CC). The fungal and actinomycetes populations decreased with increasing plant age. The effect was more pronounced in the rhizosphere of paddy straw-amended soils. The mycorrhizal spore count and the colonization of barley roots by (V)-AM were more pronounced in soils amended with PSC than in those amended with CC.
Engaging Youth and Young Adults in the COVID-19 Pandemic Response via the “It’s Our Turn” Crowdsourcing Contest (2023)

As the coronavirus disease (COVID-19) pandemic continued to progress into 2021, appeals were made to take a stronger focus on the perceptions and practices of youth and young adults (YYAs) regarding COVID-19 mitigation, as well as the impact of mitigation strategies on the overall wellbeing of YYAs. In this paper, we describe our efforts to increase YYA engagement in Arizona's COVID-19 response by pairing embedded values from youth participatory action research (YPAR) with a crowdsourcing challenge contest design. The research protocol and implementation are described, followed by a thematic analysis of YYA-led messaging portrayed in 23 contest submissions and reflections formed by 223 community voters after viewing contest submissions. The authors conclude that a YYA-led crowdsourcing contest presented an opportunity to (a.) investigate the perceptions and behaviors of YYAs and their networks regarding the COVID-19 pandemic and mitigation efforts <i>and</i> (b.) amplify the voices of YYAs in the pandemic response. Perhaps even more importantly, this approach also offered insight into the exacerbated impact of the pandemic on YYA mental health and wellbeing, and the utility of YPAR in raising awareness of these effects among the contexts and social networks of YYAs.
Applying FALCON® gravity gradiometry to hydrocarbon exploration in the Gippsland Basin, Victoria (2006)

AbstractThe Bass Strait FALCON airborne gravity gradiometcr (AGG) survey was flown over an area of the Gippsland Basin in Bass Strait in July 2002. The survey, centred on the gas-producing Marlin and Snapper fields, coincidcd with a contemporary, detailed marine gravity survey. These marine gravity data, as well as pre-existing data from satellite gravity and sparse marine gravity surveys, were used in comparisons with the FALCON data.The vertical gravity gradient data outlined a major Eocene channel. Interpretation, including modelling of representative seismic lines, revealed the particular usefulness of these data for mapping shallow faults. Conventional vertical gravity from the FALCON survey was better at the longer wavelength features, typically the major tectonic elements such as basin bounding faults, and relative sediment thickness. Comparisons with the marine and satellite gravity data showed that the FALCON gravity reproduced all the information available in the other surveys at wavelengths up to the survey size. At shorter wavelengths, the FALCON data had higher sensitivity than all other datasets, including the detailed marine gravity. Incorporation of longer wavelengths from the satellite or other gravity into the FALCON gravity proved successful in improving the longer wavelength information and regional context. As a result of this study, the standard FALCON processing has been improved to allow such incorporation on all surveys where separately acquired sparse gravity data are available.Keywordsgravity gradiometrymarine gravitywavelengthresolutionpetroleumBass StraitGippsland
Electrochemical CO2 Reduction: Tailoring Catalyst Layers in Gas Diffusion Electrodes (2020)

Abstract The electrochemical conversion of CO 2 into commodity chemicals or fuels is an attractive reaction for sustainable CO 2 utilization. In this context, the application of gas diffusion electrodes is promising due to efficient CO 2 mass transport. Herein, a scalable and reproducible method is presented for polytetrafluoroethylene (PTFE)‐bound copper gas diffusion electrodes (GDEs) via the dry‐pressing method and compositional parameters are emphasized to alter such electrodes. The assembly of the catalytic layer plays a critical role in the electrode performance, as elevated bulk hydrophobicity coupled with good surface wettability is observed to offer highest performance in 0.5 m KHCO 3 . With optimized electrodes, formate, CO, and H 2 are obtained at a current density of 25 mA cm −2 as main products in 1 m KOH in faradaic efficiencies (FEs) of 27%, 30%, and 36%. At 200 mA cm −2 , an altered product composition with ethylene (33% FE) and ethanol (9% FE) along with H 2 (33% FE) is observed. In addition, n ‐propanol is observed with 7% faradaic efficiency. The results indicate that the composition of the GDE has a severe influence on the electrode performance and setting proper hydrophobicity gradients within the electrode is key toward developing a successful electrochemical CO 2 reduction.
The quantcast file system (2013)

The Quantcast File System (QFS) is an efficient alternative to the Hadoop Distributed File System (HDFS). QFS is written in C++, is plugin compatible with Hadoop MapReduce, and offers several efficiency improvements relative to HDFS: 50% disk space savings through erasure coding instead of replication, a resulting doubling of write throughput, a faster name node, support for faster sorting and logging through a concurrent append feature, a native command line client much faster than hadoop fs, and global feedback-directed I/O device management. As QFS works out of the box with Hadoop, migrating data from HDFS to QFS involves simply executing hadoop distcp. QFS is being developed fully open source and is available under an Apache license from https://github.com/quantcast/qfs. Multi-petabyte QFS instances have been in heavy production use since 2011.
Sense of direction, topological awareness and communication complexity (1984)

Based on some recent results, it is here argued that the communication complexity of distributed problems can be greatly affected by two factors hereby identified as 'sense of direction' and 'topological awareness'. It is also suggested that 'insensitivity' to either or both factors is an indicator of the inherent difficulty of a distributed problem. A bibliography of recent results is included.