Miracle-dz/UniFAR-FTUs huggingface dataset:
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

CONTEXT Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis, and reproduction. Targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal, and persistent Müllerian structures in males. Consistent with the murine phenotype, human mutations in SF1 were described initially in two 46,XY individuals with female external genitalia, Müllerian structures (uterus), and primary adrenal failure. OBJECTIVE Given recent case reports of haploinsufficiency of SF1 affecting testicular function in humans, we aimed to identify SF1 mutations in a cohort of individuals with a phenotypic spectrum of 46,XY gonadal dysgenesis/impaired androgenization (now termed 46,XY disorders of sex development) with normal adrenal function. METHODS AND PATIENTS The study included mutational analysis of NR5A1 in 30 individuals with 46,XY disorders of sex development, followed by functional studies of SF1 activity. RESULTS Heterozygous missense mutations in NR5A1 were found in four individuals (four of 30, 13%) with this phenotype. These mutations (V15M, M78I, G91S, L437Q) were shown to impair transcriptional activation through abnormal DNA binding (V15M, M78I, G91S), altered subnuclear localization (V15M, M78I), or disruption of the putative ligand-binding pocket (L437Q). Two mutations appeared to be de novo or germline changes. The other two mutations appeared to be inherited in a sex-limited dominant manner because the mother is heterozygous for the change. CONCLUSIONS These studies demonstrate that SF1 mutations are more frequent than previously suspected causes of impaired fetal and postnatal testicular function in 46,XY individuals.
FlowContext: Flexible Platform for Multigigabit Stateful Packet Processing

Network security systems become an essential part of many network structures in both company and university domains. These systems however require a higher semantic level of network traffic analysis like stateful filtration or TCP stream reassembling. This paper deals with an architecture of flexible FlowContext platform capable of stateful processing at multigigabit speeds. It allows to analyze and process incoming network traffic with a flow-based approach rather than packet-based one. The proposed architecture is flexible in supporting wide range of applications, allows performance scalability and state information consistency checking. The advantages and flexibility of proposed platform is demonstrated on several network security applications.
The development of a detection system for seniors' accidental fall from bed using cameras

For many seniors, patients, and vulnerable people, an accidental fall could bear consequences serious enough to be life-threatening. Accordingly, increasing expenditure on the prevention of accidental fall has been a trend in the developed countries. One of the methods of preventing an accidental fall includes a quick notification to the caregiver. In order to detect and inform an accidental fall speedily, methods using accelerometer, infrared light, ultrasound and camera images have been extensively researched. This paper developed a system of monitoring the patient beds upon receiving the camera images through movement detection using difference image and foreground-background segmentation image which discovered the patient's location. It also verified the performance of that system.
How Selective Are V1 Cells for Pop-Out Stimuli?

Many neurons in visual area V1 respond better to a pop-out stimulus, such as a single vertical bar among many horizontal bars, than to a homogeneous stimulus, such as a stimulus with all vertical bars. Many studies have suggested such cells represent neural correlates of pop-out, or more generally figure-ground segregation. However, preference for pop-out stimuli over homogeneous stimuli could also arise from a nonspecific selectivity for feature discontinuities between the target and the background, without any specificity for pop-out per se. To distinguish between these two confounding scenarios, we compared the responses of V1 neurons to pop-out stimuli with the responses to “conjunction-target” stimuli, which have more complex feature discontinuities between the target and the surround, as in a stimulus with a blue vertical bar among blue horizontal bars and yellow vertical bars. The target in conjunction-target stimuli does not pop out, which we psychophysically verified. V1 cells in general responded similarly to pop-out and conjunction-target stimuli, and only a small minority of cells (∼2% by one measure) distinguished the pop-out and conjunction-target stimuli from each other and from homogeneous stimuli. Nevertheless, the responses of approximately 50% of the cells were significantly modulated across all center-surround stimuli, indicating that V1 cells can convey information about the feature discontinuities between the center and the surround as part of a network of neurons, although individual cells by themselves fail to explicitly represent pop-out. In light of our results, unambiguous pop-out selectivity at the level of individual cells remains to be demonstrated in V1 or elsewhere in the visual cortex.
Challenges in clustering C. elegans neurons using computational approaches

The nematode C. elegans is the only organism to have its connectome fully documented. All 302 neurons of the worm are already known, however, their description is somewhat lacking. Using current computational techniques for clustering, such as Growing Self Organizing Networks and K-Means algorithm, this paper aims to provide a deeper analysis and understanding of the C. elegans connectome and the particulars of its individual neurons. The algorithms show that there are several groups of neurons, although the rational for the grouping is not clear and the clusters are inconsistent.
Accurate visual odometry from a rear parking camera

As an increasing number of automatic safety and navigation features are added to modern vehicles, the crucial job of providing real-time localisation is predominantly performed by a single sensor, GPS, despite its well-known failings, particularly in urban environments. Various attempts have been made to supplement GPS to improve localisation performance, but these usually require additional specialised and expensive sensors. Offering increased value to vehicle OEMs, we show that it is possible to use just the video stream from a rear parking camera to produce smooth and locally accurate visual odometry in real-time. We use an efficient whole image alignment approach based on ESM, taking account of both the difficulties and advantages of the fact that a parking camera views only the road surface directly behind a vehicle. Visual odometry is complementary to GPS in offering localisation information at 30Hz which is smooth and highly accurate locally whilst GPS is course but offers absolute measurements. We demonstrate our system in a large scale experiment covering real urban driving. We also present real-time fusion of our visual estimation with automotive GPS to generate a commodity-cost localisation solution which is smooth, accurate and drift free in global coordinates.
Sustained Photosynthetic Performance of Coffea spp. under Long-Term Enhanced [CO2]

Coffee is one of the world’s most traded agricultural products. Modeling studies have predicted that climate change will have a strong impact on the suitability of current cultivation areas, but these studies have not anticipated possible mitigating effects of the elevated atmospheric [CO2] because no information exists for the coffee plant. Potted plants from two genotypes of Coffea arabica and one of C. canephora were grown under controlled conditions of irradiance (800 μmol m-2 s-1), RH (75%) and 380 or 700 μL CO2 L-1 for 1 year, without water, nutrient or root development restrictions. In all genotypes, the high [CO2] treatment promoted opposite trends for stomatal density and size, which decreased and increased, respectively. Regardless of the genotype or the growth [CO2], the net rate of CO2 assimilation increased (34-49%) when measured at 700 than at 380 μL CO2 L-1. This result, together with the almost unchanged stomatal conductance, led to an instantaneous water use efficiency increase. The results also showed a reinforcement of photosynthetic (and respiratory) components, namely thylakoid electron transport and the activities of RuBisCo, ribulose 5-phosphate kinase, malate dehydrogenase and pyruvate kinase, what may have contributed to the enhancements in the maximum rates of electron transport, carboxylation and photosynthetic capacity under elevated [CO2], although these responses were genotype dependent. The photosystem II efficiency, energy driven to photochemical events, non-structural carbohydrates, photosynthetic pigment and membrane permeability did not respond to [CO2] supply. Some alterations in total fatty acid content and the unsaturation level of the chloroplast membranes were noted but, apparently, did not affect photosynthetic functioning. Despite some differences among the genotypes, no clear species-dependent responses to elevated [CO2] were observed. Overall, as no apparent sign of photosynthetic down-regulation was found, our data suggest that Coffea spp. plants may successfully cope with high [CO2] under the present experimental conditions.
Occurrence of gas phase ammonia in the area of Beijing (China)

Abstract. The atmospheric concentrations of gaseous ammonia have been measured during two field campaigns in the winter and in the summer of 2007 at Beijing (China). These measurements were carried out by means of diffusion annular denuders coated with phosphorous acid. The results were discussed from the standpoint of temporal and diurnal variations and meteorological effects. The daily average NH3 concentrations were in the range of 0.20–44.38 μg/m3 and showed regular temporal variations with higher concentrations during summer and with lower during winter. The temporal trends seemed to be largely affected by air temperature because of agricultural sources. No diurnal variability was observed for gaseous NH3 levels in both winter and summer seasons. The highest ammonia value of 105.67 μg/m3 was measured in the early morning during the summer period when stable atmospheric conditions occurred. The diurnal winter and summer trends of ammonia showed a weak dependence on the air temperature and they were affected nearly by wind direction suggesting regional and local source influences. Ammonia was also correlated with the atmospheric mixing in the boundary layer, and, with NOx, CO and PM2.5 air concentrations supporting the hypothesis that the traffic may be also an important source of ammonia in Beijing.
SOURCES OF EDUCATIONAL GROWTH IN AMERICA

The twentieth century has witnessed an educational revolution in the United States. A look at census statistics reveals the magnitude of this trend. Persons born during the first five years of the century achieved a median of 8.6 grades of schooling, while persons born at midcentury reached a median of 12.8 grades; in 1910 only 62.5% of young Americans aged 5-19 were enrolled in school, but by 1974 this figure reached 89.4%. The growth of educational attainment in the population has implications for many aspects of social life: the economic and social standing of individuals and occupations, political attitudes and behavior,consumer behavior, attitudes toward work and leisure, and marriage and fertility patterns. And yet the causes of this phenomenon are not well understood. To be sure, one can cite a number of related modern social trends. Real family incomes have increased substantially throughout the century; the farm population has dwindled while the urban population and nonfarm segments of industry have grown; the labor market has demanded higher-skilled and better-educated workers, and has paid them better; compulsory school attendance laws have been passed; and school systems have been bureaucra-tized, extended, and enriched. But which, if any, of these changes have actually caused successive generations to spend more of their lives in school, and which are merely collateral developments? Research Perspectives on Educational Growth Sources of change in levels of educational attainment may be broadly divided into two categories, social demographic and macroeconomic. At any time, there are social demographic factors affecting how far an individual goes in school. Persons from high-income families, from families in which parents are well educated, and from small families tend to go the farthest. Over successive generations, as family incomes and parents' educational levels rise and as family sizes decline, average levels of school attainment increase. The macroeconomic sources of change in educational attainment are aggregate market incentives, such as the costs of schooling and the expected economic advantage to having more education. At any one time these factors are experienced in approximately the same way by all persons of a given age, but as economic conditions change over time, the incentives to stay in school alter. Most research on educational growth has emphasized only one or the other of these perspectives, rather than both. In a recent study of the sources of educational growth in America, therefore, I have attempted to examine social demographic and …
Hierarchical Conformational Analysis of Native Lysozyme Based on Sub-Millisecond Molecular Dynamics Simulations

Hierarchical organization of free energy landscape (FEL) for native globular proteins has been widely accepted by the biophysics community. However, FEL of native proteins is usually projected onto one or a few dimensions. Here we generated collectively 0.2 milli-second molecular dynamics simulation trajectories in explicit solvent for hen egg white lysozyme (HEWL), and carried out detailed conformational analysis based on backbone torsional degrees of freedom (DOF). Our results demonstrated that at micro-second and coarser temporal resolutions, FEL of HEWL exhibits hub-like topology with crystal structures occupying the dominant structural ensemble that serves as the hub of conformational transitions. However, at 100ns and finer temporal resolutions, conformational substates of HEWL exhibit network-like topology, crystal structures are associated with kinetic traps that are important but not dominant ensembles. Backbone torsional state transitions on time scales ranging from nanoseconds to beyond microseconds were found to be associated with various types of molecular interactions. Even at nanoseconds temporal resolution, the number of conformational substates that are of statistical significance is quite limited. These observations suggest that detailed analysis of conformational substates at multiple temporal resolutions is both important and feasible. Transition state ensembles among various conformational substates at microsecond temporal resolution were observed to be considerably disordered. Life times of these transition state ensembles are found to be nearly independent of the time scales of the participating torsional DOFs.
Keeping an eye on the game: Eye gaze interaction with massively multiplayer online games and virtual communities for motor impaired users.

Online virtual communities are becoming increasingly popular both within the able-bodied and disabled user communities. These games assume the use of keyboard and mouse as standard input devices, which in some cases is not appropriate for users with a disability. This paper explores gaze-based interaction methods and highlights the problems associated with gaze control of online virtual worlds. The paper then presents a novel ‘Snap Clutch’ software tool that addresses these problems and enables gaze control. The tool is tested with an experiment showing that effective gaze control is possible although task times are longer. Errors caused by gaze control are identified and potential methods for reducing these are discussed. Finally, the paper demonstrates that gaze driven locomotion can potentially achieve parity with mouse and keyboard driven locomotion, and shows that gaze is a viable modality for game based locomotion both for able-bodied and disabled users alike.
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

Two motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are caused by distinct genes involved in RNA metabolism, TDP‐43 and FUS/TLS, and SMN, respectively. However, whether there is a shared defective mechanism in RNA metabolism common to these two diseases remains unclear. Here, we show that TDP‐43 and FUS/TLS localize in nuclear Gems through an association with SMN, and that all three proteins function in spliceosome maintenance. We also show that in ALS, Gems are lost, U snRNA levels are up‐regulated and spliceosomal U snRNPs abnormally and extensively accumulate in motor neuron nuclei, but not in the temporal lobe of FTLD with TDP‐43 pathology. This aberrant accumulation of U snRNAs in ALS motor neurons is in direct contrast to SMA motor neurons, which show reduced amounts of U snRNAs, while both have defects in the spliceosome. These findings indicate that a profound loss of spliceosome integrity is a critical mechanism common to neurodegeneration in ALS and SMA, and may explain cell‐type specific vulnerability of motor neurons.
Relativistic Bohmian interpretation of quantum mechanics

I present a relativistic covariant version of the Bohmian interpretation of quantum mechanics and discuss the corresponding measurable predictions. The covariance is incoded in the fact that the nonlocal quantum potential transforms as a scalar, which is a consequence of the fact that the nonlocal wave function transforms as a scalar. The measurable predictions that can be obtained with the deterministic Bohmian interpretation cannot be obtained with the conventional interpretation simply because the conventional probabilistic interpretation does not work in the case of relativistic quantum mechanics.
Re-Examining the Darwinian Basis for Aldo Leopold’s Land Ethic

Abstract Many philosophers have become familiar with Leopold’s land ethic through the writings of J. Baird Callicott, who claims that Leopold bases his land ethic on a ‘protosociobiological’ argument that Darwin gives in the Descent of Man. On this view, which has become the canonical interpretation, Leopold’s land ethic is based on extending our moral sentiments to ecosystems. I argue that the evidence weighs in favor of an alternative interpretation of Leopold; his reference to Darwin does not refer to the Descent, but rather to the Origin of Species, where Darwin discusses the interdependencies between organisms in the struggle for existence.
I.v. lidocaine worsens histamine-induced bronchoconstriction in dogs.

We have assessed the effect of lidocaine (lignocaine) on histamine-induced bronchoconstriction by direct visualization with a superfine fibreoptic bronchoscope. Seven mongrel dogs were anaesthetized with pentobarbital (pentobarbitone) 30 mg kg-1 followed by 2 mg kg-1 h-1 and pancuronium 200 micrograms kg-1 h-1. The trachea was intubated with a tracheal tube containing a second lumen for insertion of a 2.2-mm fibreoptic bronchoscope. This allowed estimation of the bronchial cross-sectional area (BCA) of the third bronchial bifurcation of the right lung. We used NIH image, a public domain image processing and analysis program. Bronchoconstriction was produced with a bolus dose of histamine 10 micrograms kg-1 i.v. followed by continuous infusion of 500 micrograms kg-1 h-1. After 30 min the following i.v. doses of lidocaine were given: lidocaine 0 (saline), 0.01, 0.1, 1.0 and 10 mg kg-1 at 10-min intervals. BCA was assessed 90 s after each dose. Arterial blood sampling was performed for measurement of plasma catecholamines. Lidocaine 1.0 and 10 mg kg-1 significantly reduced histamine-decreased BCA from 69.7 (SEM 4.1)% to 59.8 (7.3)% and 34.3 (6.8)%, respectively. Plasma concentrations of catecholamines decreased significantly after lidocaine 10 mg kg-1 i.v. In addition, there was a significant correlation between percentage decreases in plasma concentrations of epinephrine (adrenaline) and norepinephrine (noradrenaline) and reduction in %BCA (epinephrine-BCA, P < 0.01, r = 0.674; norepinephrine-BCA, P < 0.01, r = 0.510). This study suggests that i.v. lidocaine may exacerbate histamine-induced bronchoconstriction by a sympatholytic effect. This may have therapeutic implications for patients with acute asthma or anaphylactic shock who may become dependent on circulating catecholamines.
Phenological and water-use patterns underlying maximum growing season length at the highest elevations: implications under climate change.

Consequences of climate change on tree phenology are readily observable, but little is known about the variations in phenological sensitivity to drought between populations within a species. In this study, we compare the phenological sensitivity to temperature and water availability in Abies pinsapo Boiss. , a drought-sensitive Mediterranean fir, across its altitudinal distribution gradient. Twig growth and needle fall were related to temperature, precipitation and plant water status on a daily scale. Stands located at the top edge of the distributional range showed the most favourable water balance, maximum growth rates and little summer defoliation. Towards higher elevations, the observed delay in budburst date due to lower spring temperatures was overcome by a stronger delay in growth cessation date due to the later onset of strong water-deficit conditions in the summer. This explains an extended growing season and the greatest mean growth at the highest elevation. Conversely, lower predawn xylem water potentials and early partial stomatal closure and growth cessation were found in low-elevation A. pinsapo trees. An earlier and higher summer peak of A. pinsapo litterfall was also observed at these water-limited sites. Our results illustrate the ecophysiological background of the ongoing altitudinal shifts reported for this relict tree species under current climatic conditions.
Assortment of Materialized View: A Comparative Survey in Data Warehouse Environment

warehouse is a repository of large amount of data collected from multiple heterogeneous and distributed data sources. Data warehouse stores lots of data in the form of views, referred as materialized views which provide a base for decision support or OLAP queries. Materialized views store the result of queries which improves the query performance. One of the most important aspect in data warehousing is the selection of materialized views which minimizes the query response time and maintenance cost, given a limited storage space. In this paper, analysis of various approaches of view selection in data warehousing environment is done that have been proposed in the recent past and also provided a comprehensive study of these approaches based on various parameters such as issues addressed, query language supported, comparison to benchmark etc.