Miracle-dz/UniFAR-FTUs huggingface dataset:
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

Duplications of 17(p11.2p11.2) have been associated with various behavioral manifestations including attention deficits, obsessive‐compulsive symptoms, autistic traits, and language delay. We are conducting a genetic study of autism and are screening all cases for submicroscopic chromosomal abnormalities, in addition to standard karyotyping, and fragile X testing. Using array‐based comparative genomic hybridization analysis of data from the Affymetrix GeneChip® Human Mapping Array set, we detected a duplication of ∼3.3 Mb on chromosome 17p11.2 in a male child with autism and severe expressive language delay. The duplication was confirmed by measuring the copy number of genomic DNA using quantitative polymerase chain reaction. Gene expression analyses revealed increased expression of three candidate genes for the Smith–Magenis neurobehavioral phenotype, RAI1, DRG2, and RASD1, in transformed lymphocytes from Case 81A, suggesting gene dosage effects. Our results add to a growing body of evidence suggesting that duplications of 17(p11.2p11.2) result in language delay as well as autism and related phenotypes. As Smith–Magenis syndrome is also associated with language delay, a gene involved in acquisition of language may lie within this interval. Whether a parent of origin effect, gender of the case, the presence of allelic variation, or changes in expression of genes outside the breakpoints influence the resultant phenotype remains to be determined. © 2007 Wiley‐Liss, Inc.
Fundamental Limitations on the Resolution of Deterministic Signals

We exploit results from detection theory for deriving fundamental limitations on resolution. The results are general and are not based on any specific resolution technique and therefore hold for any method and for any resolution success rate. We show that for signals with additive white Gaussian noise the resolution limit is approximated by a simple expression related to the signal to noise ratio, the signal waveform and the resolution success rate. As an example, we discuss the resolution of two complex exponentials with closely spaced frequencies. The theoretical result is compared with the empirical performance of model order selection methods such as the Akaike information criterion and the minimum description length.
Secretion of two novel enzymes, manganese 9S-lipoxygenase and epoxy alcohol synthase, by the rice pathogen Magnaporthe salvinii[S]

The mycelium of the rice stem pathogen, Magnaporthe salvinii, secreted linoleate 9S-lipoxygenase (9S-LOX) and epoxy alcohol synthase (EAS). The EAS rapidly transformed 9S-hydroperoxy-octadeca-10E,12Z-dienoic acid (9S-HPODE) to threo 10 (11)-epoxy-9S-hydroxy-12Z-octadecenoic acid, but other hydroperoxy FAs were poor substrates. 9S-LOX was expressed in Pichia pastoris. Recombinant 9S-LOX oxidized 18:2n-6 directly to 9S-HPODE, the end product, and also to two intermediates, 11S-hydroperoxy-9Z,12Z-octadecenoic acid (11S-HPODE; ∼5%) and 13R-hydroperoxy-9Z,11E-octadecadienoic acid (13R-HPODE; ∼1%). 11S- and 13R-HPODE were isomerized to 9S-HPODE, probably after oxidation to peroxyl radicals, β-fragmentation, and oxygen insertion at C-9. The 18:3n-3 was oxidized at C-9, C-11, and C-13, and to 9,16-dihydroxy-10E,12,14E-octadecatrienoic acid. 9S-LOX contained catalytic manganese (Mn:protein ∼0.2:1; Mn/Fe, 1:0.05), and its sequence could be aligned with 77% identity to 13R-LOX with catalytic manganese lipoxygenase (13R-MnLOX) of the Take-all fungus. The Leu350Met mutant of 9S-LOX shifted oxidation of 18:2n-6 from C-9 to C-13, and the Phe347Leu, Phe347Val, and Phe347Ala mutants of 13R-MnLOX from C-13 to C-9. In conclusion, M. salvinii secretes 9S-LOX with catalytic manganese along with a specific EAS. Alterations in the Sloane determinant of 9S-LOX and 13R-MnLOX with larger and smaller hydrophobic residues interconverted the regiospecific oxidation of 18:2n-6, presumably by altering the substrate position in relation to oxygen insertion.
Wood anatomical correlates with theoretical conductivity and wood density across China: evolutionary evidence of the functional differentiation of axial and radial parenchyma.

BACKGROUND AND AIMS In recent years considerable effort has focused on linking wood anatomy and key ecological traits. Studies analysing large databases have described how these ecological traits vary as a function of wood anatomical traits related to conduction and support, but have not considered how these functions interact with cells involved in storage of water and carbohydrates (i.e. parenchyma cells). METHODS We analyzed, in a phylogenetic context, the functional relationship between cell types performing each of the three xylem functions (conduction, support and storage) and wood density and theoretical conductivity using a sample of approx. 800 tree species from China. KEY RESULTS Axial parenchyma and rays had distinct evolutionary correlation patterns. An evolutionary link was found between high conduction capacity and larger amounts of axial parenchyma that is probably related to water storage capacity and embolism repair, while larger amounts of ray tissue have evolved with increased mechanical support and reduced hydraulic capacity. In a phylogenetic principal component analysis this association of axial parenchyma with increased conduction capacity and rays with wood density represented orthogonal axes of variation. In multivariate space, however, the proportion of rays might be positively associated with conductance and negatively with wood density, indicating flexibility in these axes in species with wide rays. CONCLUSIONS The findings suggest that parenchyma types may differ in function. The functional axes represented by different cell types were conserved across lineages, suggesting a significant role in the ecological strategies of the angiosperms.
Long-Term Ozone Exposure and Mortality in a Large Prospective Study.

RATIONALE Tropospheric ozone (O3) is potentially associated with cardiovascular disease risk and premature death. Results from long-term epidemiological studies on O3 are scarce and inconclusive. OBJECTIVES In this study, we examined associations between chronic ambient O3 exposure and all-cause and cause-specific mortality in a large cohort of U.S. adults. METHODS Cancer Prevention Study II participants were enrolled in 1982. A total of 669,046 participants were analyzed, among whom 237,201 deaths occurred through 2004. We obtained estimates of O3 concentrations at the participant's residence from a hierarchical Bayesian space-time model. Estimates of fine particulate matter (particulate matter with an aerodynamic diameter of up to 2.5 μm [PM2.5]) and NO2 concentrations were obtained from land use regression. Cox proportional hazards regression models were used to examine mortality associations adjusted for individual- and ecological-level covariates. MEASUREMENTS AND MAIN RESULTS In single-pollutant models, we observed significant positive associations between O3, PM2.5, and NO2 concentrations and all-cause and cause-specific mortality. In two-pollutant models adjusted for PM2.5, significant positive associations remained between O3 and all-cause (hazard ratio [HR] per 10 ppb, 1.02; 95% confidence interval [CI], 1.01-1.04), circulatory (HR, 1.03; 95% CI, 1.01-1.05), and respiratory mortality (HR, 1.12; 95% CI, 1.08-1.16) that were unchanged with further adjustment for NO2. We also observed positive mortality associations with both PM2.5 (both near source and regional) and NO2 in multipollutant models. CONCLUSIONS Findings derived from this large-scale prospective study suggest that long-term ambient O3 contributes to risk of respiratory and circulatory mortality. Substantial health and environmental benefits may be achieved by implementing further measures aimed at controlling O3 concentrations.
Air-Flow-Based Single-Cell Dispensing System

We discuss a design and fabrication approach to increase the success rate of single-cell dispensing. Two pairs of capacitance sensors are placed in a biochip to detect the flow velocity of cells and air pressure is applied to eject cells by synchronizing the timing. A comprehensive design theory, which takes into account the back-pressure caused by the air pressure, the response time of the system, the sensor properties and the delay of the dispensing from the air pressure, is developed in order to minimize the disturbance of the system and maximize the throughput of the ejection system. Then, the system theoretically has a capability to eject 3 cells/s and the maximum flow velocity is 10 mm/s. The novelty of the system is that the biochip is disposable, which is unlike the conventional mechanical inkjet system; because the biochip is low cost and disposable this prevents contamination and means the drive system is reusable. Finally, we succeeded in automatic dispensing of a single polystyrene bead (100 μm) from a biochip to a culture well atmosphere using the developed cell ejection system with a success rate of 50%. Furthermore, we also succeeded in single swine oocyte dispensing by using the developed system.
Adaptive Educational Software by Applying Reinforcement Learning

The introduction of the intelligence in teaching software is the object of this paper. In software elaboration process, one uses some learning techniques in order to adapt the teaching software to characteristics of student. Generally, one uses the artificial intelligence techniques like reinforcement learning, Bayesian network in order to adapt the system to the environment internal and external conditions, and allow this system to interact efficiently with its potentials user. The intention is to automate and manage the pedagogical process of tutoring system, in particular the selection of the content and manner of pedagogic situations. Researchers create a pedagogic learning agent that simplifies the manual logic and supports progress and the management of the teaching process (tutor-learner) through natural interactions.
Culprit and Nonculprit Recurrent Ischemic Events in Patients With Myocardial Infarction: Data From SWEDEHEART (Swedish Web System for Enhancement and Development of Evidence‐Based Care in Heart Disease Evaluated According to Recommended Therapies)

Background Long‐term disease progression after myocardial infarction (MI) is inadequately understood. We evaluated the pattern and angiographic properties (culprit lesion [CL]/non‐CL [NCL]) of recurrent MI (re‐MI) in a large real‐world patient population. Methods and Results Our observational study used prospectively collected data in 108 615 patients with first‐occurrence MI enrolled in the SWEDEHEART (Swedish Web System for Enhancement and Development of Evidence‐Based Care in Heart Disease Evaluated According to Recommended Therapies) between July 1, 2006 and November 29, 2014. During follow‐up (median, 3.2 years), recurrent hospitalization for MI occurred in 11 117 patients (10.2%). Of the patients who underwent coronary angiography for the index MI, a CL was identified in 44 332 patients. Of those patients, 3464 experienced an re‐MI; the infarct originated from the NCL in 1243 patients and from the CL in 655 patients. In total, 1566 re‐MIs were indeterminate events and could not be classified as NCL or CL re‐MIs. The risk of re‐MI within 8 years related to the NCL was 0.06 (95% confidence interval [CI], 0.05–0.06), compared with 0.03 (95% CI, 0.02–0.03) for the CL. There were no large differences in baseline characteristics of patients with subsequent NCL versus CL re‐MIs. Independent predictors of NCL versus CL re‐ MI were multivessel disease (odds ratio, 2.29; 95% CI, 1.87–2.82), male sex (odds ratio, 1.36; 95% CI, 1.09–1.71), and a prolonged time between the index and re‐MI (odds ratio, 1.16; 95% CI, 1.10–1.22). Conclusions In a large cohort of patients with first‐occurrence MI undergoing percutaneous coronary intervention, the risk of re‐MI originating from a previously untreated lesion was twice higher than the risk of lesions originating from a previously stented lesion. Clinical Trial Registration URL: http://www.clinicaltrials. gov. Unique identifier: NCT03099395.
SEcure Neighbor Discovery (SEND)

IPv6 nodes use the Neighbor Discovery Protocol (NDP) to discover other nodes on the link, to determine their link-layer addresses to find routers, and to maintain reachability information about the paths to active neighbors. If not secured, NDP is vulnerable to various attacks. This document specifies security mechanisms for NDP. Unlike those in the original NDP specifications, these mechanisms do not use IPsec. [STANDARDS-TRACK]
Online Non-Negative Convolutive Pattern Learning for Speech Signals

The unsupervised learning of spectro-temporal patterns within speech signals is of interest in a broad range of applications. Where patterns are non-negative and convolutive in nature, relevant learning algorithms include convolutive non-negative matrix factorization (CNMF) and its sparse alternative, convolutive non-negative sparse coding (CNSC). Both algorithms, however, place unrealistic demands on computing power and memory which prohibit their application in large scale tasks. This paper proposes a new online implementation of CNMF and CNSC which processes input data piece-by-piece and updates learned patterns gradually with accumulated statistics. The proposed approach facilitates pattern learning with huge volumes of training data that are beyond the capability of existing alternatives. We show that, with unlimited data and computing resources, the new online learning algorithm almost surely converges to a local minimum of the objective cost function. In more realistic situations, where the amount of data is large and computing power is limited, online learning tends to obtain lower empirical cost than conventional batch learning.
Consumer Behaviour at Multi-channel Retailers

Consumer behaviour at pure Internet players has been analysed thoroughly in earlier work. When it comes to retailers with multiple distribution channels, however, new behaviour patterns can be observed. Given the fact that multi-channel retailing is much more common than Internet-only, the analysis of consumer behaviour in a multi-channel context constitutes a challenge for the deeper understanding of e-business. The contribution of this research is threefold: first, this study provides an overview of how the 50 largest e-retailers presently coordinate the interaction between sales on their web sites and in physical stores. Second, we present findings from a consumer survey suggesting what consumers like about multi-channel services on retail sites. Finally, user behaviour is empirically evaluated based on transaction and web log data from a large multi-channel retailer. The results indicate a strong demand for multi-channel services and suggest that retailers should expand their multi-channel service spectrum.
Hmap: a fast mapper for EPGAs using extended GBDD hash tables

A fast and efficient algorithm for technology mapping of electrically programmable gate arrays (EPGAs) is proposed. This Hmap algorithm covers the Boolean network with programmed logic modules bottom-up. The covering operation is based on collapsing the fanins of a node to form a bigger supernode such that fewer clusters are needed to be detected. Then Boolean matching is used to detect whether the collapsed supernode can be mapped into a logic module by looking up an extended GBDD hash table. The use of this table look-up matching can shorten the matching time significantly. As shown in the experiments, the average running time of Hmap is 20 times faster than that of MIS-pga2.
Theoretical Analysis of Wavelet Synopsis on Partitioned Data Sets

Wavelet synopsis is one of most popular dimensionality reduction methods and has been studied in various areas such as query optimization, approximate query answering, feature selection, etc. Currently, the size of data becomes much larger and the distributed data processing is increasingly important. The MapReduce well known as Google's data processing environment is the most popular distributed platform with good scalability and fault tolerance. Thus, recently, the algorithms to construct wavelet synopses on the MapReduce platform were proposed. In this paper, we theoretically analyze wavelet synopsis on partitioned data sets. Although the wavelet synopsis on partitioned data sets was proposed in recent work, only the algorithmic implementation and experimental results were given but there was no theoretical analysis. Thus, we study theoretical analysis of the properties of wavelet synopsis on partitioned data sets and the correctness of merging them.
Spatial Position Information Accumulates Steadily over Time

One of the more enduring mysteries of neuroscience is how the visual system constructs robust maps of the world that remain stable in the face of frequent eye movements. Here we show that encoding the position of objects in external space is a relatively slow process, building up over hundreds of milliseconds. We display targets to which human subjects saccade after a variable preview duration. As they saccade, the target is displaced leftwards or rightwards, and subjects report the displacement direction. When subjects saccade to targets without delay, sensitivity is poor; but if the target is viewed for 300–500 ms before saccading, sensitivity is similar to that during fixation with a strong visual mask to dampen transients. These results suggest that the poor displacement thresholds usually observed in the “saccadic suppression of displacement” paradigm are a result of the fact that the target has had insufficient time to be encoded in memory, and not a result of the action of special mechanisms conferring saccadic stability. Under more natural conditions, trans-saccadic displacement detection is as good as in fixation, when the displacement transients are masked.
Font Identification in Historical Documents Using Active Learning

Identifying the type of font (e.g., Roman, Blackletter) used in historical documents can help optical character recognition (OCR) systems produce more accurate text transcriptions. Towards this end, we present an active-learning strategy that can significantly reduce the number of labeled samples needed to train a font classifier. Our approach extracts image-based features that exploit geometric differences between fonts at the word level, and combines them into a bag-of-word representation for each page in a document. We evaluate six sampling strategies based on uncertainty, dissimilarity and diversity criteria, and test them on a database containing over 3,000 historical documents with Blackletter, Roman and Mixed fonts. Our results show that a combination of uncertainty and diversity achieves the highest predictive accuracy (89% of test cases correctly classified) while requiring only a small fraction of the data (17%) to be labeled. We discuss the implications of this result for mass digitization projects of historical documents.
Admission CT Perfusion Is an Independent Predictor of Hemorrhagic Transformation in Acute Stroke with Similar Accuracy to DWI

Background: The utility of admission CT perfusion (CTP) to that of diffusion-weighted imaging (DWI) as a predictor of hemorrhagic transformation (HT) in acute stroke was compared. Methods: We analyzed the admission CTP and DWI scans of 96 consecutive stroke patients. HT was present in 22 patients (23%). Infarct core was manually segmented on the admission DWI. We determined the: (1) hypoperfused tissue volume in the ischemic hemisphere using a range of thresholds applied to multiple different CTP parameter maps, and (2) mean relative CTP (rCTP) voxel values within both the DWI-segmented lesions and the thresholded CTP parameter maps. Receiver operating characteristic area under curve (AUC) analysis and multivariate regression were used to evaluate the test characteristics of each set of volumes and mean rCTP parameter values as predictors of HT. Results: The hypoperfused tissue volumes with either relative cerebral blood flow (rCBF) <0.48 (AUC = 0.73), or relative mean transit time (rMTT) >1.3 (AUC = 0.70), had similar accuracy to the DWI-segmented core volume (AUC = 0.68, p = 0.2 and p = 0.1, respectively) as predictors of HT. The mean rMTT voxel values within the rMTT >1.3 segmented lesion (AUC = 0.71) had similar accuracy to the mean rMTT voxel values (AUC = 0.65, p = 0.24) and mean rCBF voxel values (AUC = 0.64, p = 0.22) within the DWI-segmented lesion. The only independent predictors of HT were: (1) mean rMTT with rMTT >1.3, and (2) mechanical thrombectomy. Conclusion: Admission CTP-based hypoperfused tissue volumes and thresholded mean voxel values are markers of HT in acute stroke, with similar accuracy to DWI. This could be of value when MRI cannot be obtained.
Opportunistic data structures with applications

We address the issue of compressing and indexing data. We devise a data structure whose space occupancy is a function of the entropy of the underlying data set. We call the data structure opportunistic since its space occupancy is decreased when the input is compressible and this space reduction is achieved at no significant slowdown in the query performance. More precisely, its space occupancy is optimal in an information-content sense because text T[1,u] is stored using O(H/sub k/(T))+o(1) bits per input symbol in the worst case, where H/sub k/(T) is the kth order empirical entropy of T (the bound holds for any fixed k). Given an arbitrary string P[1,p], the opportunistic data structure allows to search for the occurrences of P in T in O(p+occlog/sup /spl epsiv//u) time (for any fixed /spl epsiv/>0). If data are uncompressible we achieve the best space bound currently known (Grossi and Vitter, 2000); on compressible data our solution improves the succinct suffix array of (Grossi and Vitter, 2000) and the classical suffix tree and suffix array data structures either in space or in query time or both. We also study our opportunistic data structure in a dynamic setting and devise a variant achieving effective search and update time bounds. Finally, we show how to plug our opportunistic data structure into the Glimpse tool (Manber and Wu, 1994). The result is an indexing tool which achieves sublinear space and sublinear query time complexity.
GYF-21, an Epoxide 2-(2-Phenethyl)-Chromone Derivative, Suppresses Innate and Adaptive Immunity via Inhibiting STAT1/3 and NF-κB Signaling Pathways

Multiple sclerosis is a chronic inflammatory autoimmune disease of the central nervous system characterized by demyelinating plaques and axonal loss. Inhibition on over activation of innate and adaptive immunity provides a rationale strategy for treatment of multiple sclerosis. In the present study, we investigated the inhibitory effects of GYF-21, an epoxide 2-(2-phenethyl)-chromone derivative isolated from Chinese agarwood, on innate and adaptive immunity for revealing its potential to treat multiple sclerosis. The results showed that GYF-21 markedly inhibited the activation of microglia, and dendritic cells as well as neutrophils, all of which play important roles in innate immunity. Furthermore, GYF-21 significantly suppressed adaptive immunity via inhibiting the differentiation of naive CD4+ T cells into T helper 1 (Th1) and T helper 17 (Th17) cells, and suppressing the activation, proliferation, and IFN-γ secretion of CD8+ T cells. The mechanism study showed that GYF-21 evidently inhibited the activation of STAT1/3 and NF-κB signaling pathways in microglia. In conclusion, we demonstrated that GYF-21 can significantly inhibit innate and adaptive immunity via suppressing STAT1/3 and NF-κB signaling pathways, and has potential to be developed into therapeutic drug for multiple sclerosis.