Miracle-dz/UniFAR-FTUs huggingface dataset:
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa–Kuroki) syndrome (MIM#147920). To further elucidate the genotype–phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2‐Kabuki score 0–10). Sequencing of the full coding region and intron–exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice‐site mutations, 34 of which were novel. In five additional patients, novel, i.e. non‐dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median ‘MLL2‐Kabuki score’ of 6) as compared to the patients without MLL2 mutations (median ‘MLL2‐Kabuki score’ of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.
Queuing Theoretic Models for Multicast and Coded-Caching in Downlink Wireless Systems

We consider a server connected to $L$ users over a shared finite capacity link. Each user is equipped with a cache. File requests at the users are generated as independent Poisson processes according to a popularity profile from a library of $M$ files. The server has access to all the files in the library. Users can store parts of the files or full files from the library in their local caches. The server should send missing parts of the files requested by the users. The server attempts to fulfill the pending requests with minimal transmissions exploiting multicasting and coding opportunities among the pending requests. We study the performance of this system in terms of queuing delays for the naive multicasting and several coded multicasting schemes proposed in the literature. We also provide approximate expressions for the mean queuing delay for these models and establish their effectiveness with simulations.
Animal husbandry in Africa: Climate change impacts and adaptations

This paper uses a cross-sectional approach to analyze the impacts of climate change on animal husbandry and the way farmers adapt. The study is based on surveys of almost 5000 livestock farmers across ten countries in Africa. A traditional Ricardian regression finds that the livestock net revenues of large farms in Africa are more sensitive to temperature than those of small farms. Cross-sectional analysis also reveals that large farms (but not small farms) have fewer animals per farm in warmer places. Farmers tend to select beef cattle and chickens in cool climates and goats and sheep in hot climates. Using the Ricardian results and examining climate scenarios for 2060 and beyond, the net revenues of small farms are predicted to increase as much as 120% (+USD6 billion) but those of large farms are predicted to fall by 20% (-USD12 billion). The impact estimates in any given period also depend on the rainfall predictions. The results suggest that large livestock farms in Africa are more sensitive to temperature than small ones, primarily because of their dependence on cattle.
Implications of Limited Investor Attention to Economic Links

This study focuses on the market reaction to information transfers from economically linked customers. In particular, I examine whether investors have limited attention with respect to the information contained in customer earnings announcements for suppliers. Using 1,083 unique customer-supplier relationships for the period 1983–2011, I find that the cumulative abnormal returns of a supplier surrounding and following its linked customer’s earnings announcement date is positively related to its linked customers’ unexpected earnings news, indicating that customer earnings announcements convey information for suppliers. Because customer-supplier links between firms are typically associated with information transfers, the results suggest that limited investor attention to the arrival of new information on economically linked firms leads to market underreactions.
Second City Politics: Democratic Processes and Decision-Making in Birmingham . By Kenneth Newton. (Oxford, England: Clarendon Press, 1976. Pp. xi + 270. £4.95, $11.00, paper.)

to focus on the behavior of "campaigners" rather than the behavior of voters, as political scientists have tended to do. They present what they variously term an "analytic" or "logical" framework of democratic campaigning, which includes three broad rubrics: the political and institutional environment, the mobilization of forces, and the processes of implementation. Together they regard the environmental, m o bilizational, and implementational variables as a "campaign system. " After elaborating on the framework in considerable detail, the authors present a formal inventory of definitions, hypotheses, and propositions consistent with their framework, and then proceed to organize their subsequent analysis along those lines. The topics they discuss are richly detailed, particularly electoral laws and demography, candidate selection, party campaign organization, strategies and tactics, the almost daily actions of the principal presidential contestants, and the process of voting and vote tabulation. We are told, for example, that in an election where nearly 97 percent of those registered voted, the average time spent waiting in line to vote in Caracas was from two to four hours.
WHAT DETERMINES THE STRENGTH OF A TROPHIC CASCADE

Trophic cascades have been documented in a diversity of ecological systems and can be important in determining biomass distribution within a community. To date, the literature on trophic cascades has focused on whether and in which systems cascades occur. Many biological (e.g., productivity : biomass ratios) and methodological (e.g., experiment size or duration) factors vary with the ecosystem in which data were collected, but ecosystem type, per se, does not provide mechanistic insights into factors controlling cascade strength. Here, we tested various hypotheses about why trophic cascades occur and what determines their magnitude using data from 114 studies that measured the indirect trophic effects of predators on plant community biomass in seven aquatic and terrestrial ecosystems. Using meta-analysis, we examined the relationship between the indirect effect of predator ma- nipulation on plants and 18 biological and methodological factors quantified from these studies. We found, in contrast to predictions, that high system productivity and low species diversity do not consistently generate larger trophic cascades. A combination of herbivore and predator metabolic factors and predator taxonomy (vertebrate vs. invertebrate) explained 31% of the variation in cascade strength among all 114 studies. Within systems, 18% of the variation in cascade strength was explained with similar predator and herbivore char- acteristics. Within and across all systems, the strongest cascades occurred in association with invertebrate herbivores and endothermic vertebrate predators. These associations may result from a combination of true biological differences among species with different phys- iological requirements and bias among organisms studied in different systems. Thus, al- though cascade strength can be described by biological characteristics of predators and herbivores, future research on indirect trophic effects must further examine biological and methodological differences among studies and systems.
Fewer But Better: Sudden Stops, Firm Entry, and Financial Selection

We develop a tractable quantitative framework to study the productivity effects of financial crises. The model features endogenous productivity, heterogeneous firm dynamics, and aggregate risk. Selection of the most promising ideas gives rise to a trade-off between mass (quantity) and composition (quality) in the entrant cohort. Chilean plant-level data from the sudden stop triggered by the Russian sovereign default in 1998 confirm the model’s main mechanism, as firms born during the credit shortage are fewer but better in terms of idiosyncratic productivity. The quantitative analysis shows that at the end of the crisis, total output is permanently 0.9 percent lower. (JEL D22, E32, F41, G01, O11, O14, O33)
Present‐Day Mars' Seismicity Predicted From 3‐D Thermal Evolution Models of Interior Dynamics

The Interior Exploration using Seismic Investigations, Geodesy and Heat Transport mission, to be launched in 2018, will perform a comprehensive geophysical investigation of Mars in situ. The Seismic Experiment for Interior Structure package aims to detect global and regional seismic events and in turn offer constraints on core size, crustal thickness, and core, mantle, and crustal composition. In this study, we estimate the present‐day amount and distribution of seismicity using 3‐D numerical thermal evolution models of Mars, taking into account contributions from convective stresses as well as from stresses associated with cooling and planetary contraction. Defining the seismogenic lithosphere by an isotherm and assuming two end‐member cases of 573 K and the 1073 K, we determine the seismogenic lithosphere thickness. Assuming a seismic efficiency between 0.025 and 1, this thickness is used to estimate the total annual seismic moment budget, and our models show values between 5.7 × 1016 and 3.9 × 1019 Nm.
Interpreting weight maps in terms of cognitive or clinical neuroscience: nonsense?

Since machine learning models have been applied to neuroimaging data, researchers have drawn conclusions from the derived weight maps. In particular, weight maps of classifiers between two conditions are often described as a proxy for the underlying signal differences between the conditions. Recent studies have however suggested that such weight maps could not reliably recover the source of the neural signals and even led to false positives (FP). In this work, we used semi-simulated data from ElectroCorticoGraphy (ECoG) to investigate how the signal-to-noise ratio and sparsity of the neural signal affect the similarity between signal and weights. We show that not all cases produce FP and that it is unlikely for FP features to have a high weight in most cases.
Calculating and interpreting Cronbach’s alpha using Rosenberg assessment scale on paediatrician’s attitude and perception on self esteem

Background: Items used in a questionnaire should have internal consistency, which reflects its reliability. The most common and useful measure for internal consistency is cronbach’s alpha. Though it is the most widely used tool in qualitative medical research, it is also the most commonly misunderstood statistic. A misinterpreted cronbach’s alpha may lead to the question about the reliability of an item or scale. So this study has been undertaken with an objective of calculating and interpreting cronbach’s alpha for evaluation of the internal consistency of items by using Rosenberg Assessment Scale (RAS) on attitude and perception of paediatricians’ about self-esteem. Methods: A cross-sectional survey was done in bhubaneswar during a CME. Responses of 50 paediatricians were taken by close ended, pretested RAS. Results: The result of the reliability measure was good: α=0.724 in our study that means all the items in our survey were internally consistent and reliable to assess the attitude and perception of paediatricians. Conclusions: It was concluded that measure of internal consistency, Cronbach’s alpha (α) was easy to calculate, had a direct interpretation & less time consuming .
Rosetta mission results pre-perihelion Special feature Spectrophotometric properties of the nucleus of comet 67 P / Churyumov-Gerasimenko from the OSIRIS instrument onboard the ROSETTA spacecraft

Context. The Rosetta mission of the European Space Agency has been orbiting the comet 67P/Churyumov-Gerasimenko (67P) since August 2014 and is now in its escort phase. A large complement of scientific experiments designed to complete the most detailed study of a comet ever attempted are onboard Rosetta. Aims. We present results for the photometric and spectrophotometric properties of the nucleus of 67P derived from the OSIRIS imaging system, which consists of a Wide Angle Camera (WAC) and a Narrow Angle Camera (NAC). The observations presented here were performed during July and the beginning of August 2014, during the approach phase, when OSIRIS was mapping the surface of the comet with several filters at different phase angles (1.3◦–54◦). The resolution reached up to 2.1 m/px. Methods. The OSIRIS images were processed with the OSIRIS standard pipeline, then converted into I/F radiance factors and corrected for the illumination conditions at each pixel using the Lommel-Seeliger disk law. Color cubes of the surface were produced by stacking registered and illumination-corrected images. Furthermore, photometric analysis was performed both on disk-averaged photometry in several filters and on disk-resolved images acquired with the NAC orange filter, centered at 649 nm, using Hapke modeling. Results. The disk-averaged phase function of the nucleus of 67P shows a strong opposition surge with a G parameter value of −0.13 ± 0.01 in the HG system formalism and an absolute magnitude Hv(1, 1, 0) = 15.74 ± 0.02 mag. The integrated spectrophotometry in 20 filters covering the 250−1000 nm wavelength range shows a red spectral behavior, without clear absorption bands except for a potential absorption centered at ∼290 nm that is possibly due to SO2 ice. The nucleus shows strong phase reddening, with disk-averaged spectral slopes increasing from 11%/(100 nm) to 16%/(100 nm) in the 1.3◦−54◦ phase angle range. The geometric albedo of the comet is 6.5 ± 0.2% at 649 nm, with local variations of up to ∼16% in the Hapi region. From the disk-resolved images we computed the spectral slope together with local spectrophotometry and identified three distinct groups of regions (blue, moderately red, and red). The Hapi region is the brightest, the bluest in term of spectral slope, and the most active surface on the comet. Local spectrophotometry shows an enhancement of the flux in the 700−750 nm that is associated with coma emissions.
The measurement of suspension rheology

Abstract In the following featured article, Boyer, Pouliquen & Guazzelli (J. Fluid Mech., this issue, vol. 686, 2011, pp 5–25) measure the normal stresses in a suspension of non-colloidal rigid spheres. They use the classical rod-climbing experiment, except that for interesting reasons the free surface near to the rotating rod does not rise but dips down. Careful techniques reveal that the normal stresses occur only above a volume concentration of 22 %. Over a period of hours the measurements drift, typical of many observations of suspensions. This is due to particles slowly migrating away from the rotating rod. A model of the migration gives good predictions of the observed changes.
The association between filial piety and suicidal ideation: findings from a community-dwelling Chinese aging population.

BACKGROUND Suicidal ideation is a public health issue that has a significant impact at the individual, family, community, and societal levels. This study aimed to examine the association between filial piety and suicidal ideation among U.S. Chinese older adults. METHODS Guided by a community-based participatory research approach, 3,159 community-dwelling Chinese older adults in the Greater Chicago area were interviewed in person between 2011 and 2013. Independent variables were expectations and receipt of filial piety from the older adult's perspective. Dependent variables were suicidal ideation in the last 2 weeks and last 12 months. Logistic regression analyses were performed. RESULTS Of the 3,159 participants interviewed, 58.9% were female and the mean age was 72.8 years. After adjusting for age, sex, education, income, medical comorbidities, and depressive symptoms, lower receipt of filial piety was associated with increased risk for 2-week suicidal ideation (odds ratio: 1.07, 95% confidence interval: 1.03-1.11) and 12-month suicidal ideation (odds ratio: 1.07, 95% confidence interval: 1.04-1.11). The lowest tertiles of filial piety receipt was associated with greater risk for 2-week suicidal ideation (odds ratio: 1.95, 95% confidence interval: 1.12-3.38) and 12-month suicidal ideation (odds ratio: 2.17, 95% confidence interval: 1.35-3.48). However, no statistically significant associations were found between overall filial piety expectations and suicidal ideation in the last 2 weeks or in the last 12 months. DISCUSSION This study suggests that filial piety receipt is an important risk factor for suicidal ideation among U.S. Chinese older adults. Future longitudinal studies are needed to quantify the temporal association between filial piety and suicidal ideation.
Does Habitat Structure Affect Body Condition of Nestlings? A Case Study with Woodland Great Tits Parus major

Abstract. A large number of studies have demonstrated that habitat characteristics have a huge impact on all aspects of animal life history. This hypothesis predicts a relationship between habitat structure and the main components of fitness and, consequently, also predicts a relationship between habitat structure and other traits indirectly related to fitness, such as condition or health. We tested whether there was any relationship between the characteristics of a pine forest in the Iberian Peninsula and the condition of Great Tit nestlings reared in that forest. The parameters used to estimate nestling condition were weight, haematocrit and the presence of haemoparasites. The results suggest that mature forests produced nestlings in better condition but with a higher prevalence of haemoparasites than young forest, possibly because mature forests are a good habitat for both the bird and the parasite vector.
Awareness and knowledge of diabetes in Chennai--the Chennai Urban Rural Epidemiology Study [CURES-9].

BACKGROUND AND AIM There are virtually no epidemiological studies from India assessing the level of awareness of diabetes in a whole population. The aim of the present study was to assess the awareness of diabetes in an urban south Indian population in Chennai. METHODS The Chennai Urban Rural Epidemiology Study (CURES) is an ongoing population based study conducted using a systematic sampling method on a representative population (aged > or = 20 years - 26001 individuals) of Chennai [formerly Madras], the largest city in Southern India. A structured questionnaire was used to obtain information related to demography, education and medical history. The questionnaire included five questions on diabetes awareness. RESULTS Of the total 26,001 individuals, only 75.5% (19642/26001) of the whole population reported that they knew about a condition called diabetes or conversely nearly 25% of the Chennai population was unaware of a condition called diabetes. 60.2% (15656/26001) of all participants and 76.7% (1173/1529) of the self reported diabetic subjects knew that the prevalence of diabetes was increasing in India. Only 22.2% (5764/ 26001) of the whole population and 41.0% (627/1529) of the known diabetic subjects were aware that diabetes could be prevented. Knowledge of the role of obesity and physical inactivity in producing diabetes was very low, with only 11.9% (3083/26001) of study subjects reporting these as risk factors for diabetes. Only 19.0% (4951/26001) of whole population knew that diabetes could cause complications. Even among the self reported diabetic subjects, only 40.6% (621/1529) were aware that diabetes could produce some complications. CONCLUSION Awareness and knowledge regarding diabetes is still grossly inadequate in India. Massive diabetes education programmes are urgently needed both in urban and rural India.
Social Dominance and Male Breeding Success in Captive White-Tailed Deer

Abstract Management strategies that incorporate the social behavior of wildlife may be more efficient in achieving population objectives. Our current knowledge of white-tailed deer (Odocoileus virginianus) social behaviors may not be adequate for application to management. Using captive white-tailed deer, we investigated the long-held assumption that relatively few dominant males sire most offspring and, thus, prevent subordinates from breeding. Although this assumption influences population predictions and management strategies, empirical studies of the relationship between dominance and male breeding success in deer are lacking. We determined male dominance rank and genetic paternity through 6 breeding trials. Although dominant males sired most offspring, subordinates sired offspring in 5 of 6 trials and multiple paternity (siring of offspring by 2 males) occurred in ˜24% of compound litters. Further, male dominance ranks were not necessarily predictable or stable during the breeding season. This study indicates that the relationship between social dominance and male breeding success may be more complex than previously thought. Our findings also are consistent with recent studies of parentage in wild deer, providing additional evidence that social dominance does not necessarily equate to breeding success. Conceptual models of deer breeding behaviors should account for considerable individual heterogeneity among males in their ability to sire offspring.
Detection of Underwater Targets Using a Subspace-Based Method With Learning

This paper introduces a new subspace-based detection method for multichannel (high frequency and broadband) synthetic aperture sonar (SAS) imagery. An image-dependent dictionary learning method is applied to form the appropriate dictionary matrices for representing target and nontarget image snippets. The hypothesis testing is done by forming a test statistic that relies on the residual error power ratio in representing an unknown image snippet using the target and nontarget dictionary matrices. To avoid the computational bottleneck in most dictionary learning methods, a new recursive method is introduced which does not require any matrix inversion or singular value decomposition (SVD). The proposed detection method was then implemented and benchmarked against a matched subspace detection method for detecting mine-like objects. Results are then presented on two sonar imagery data sets collected in two geographically disparate locations.
Scalable Bilinear π Learning Using State and Action Features

Approximate linear programming (ALP) represents one of the major algorithmic families to solve large-scale Markov decision processes (MDP). In this work, we study a primal-dual formulation of the ALP, and develop a scalable, model-free algorithm called bilinear $\pi$ learning for reinforcement learning when a sampling oracle is provided. This algorithm enjoys a number of advantages. First, it adopts (bi)linear models to represent the high-dimensional value function and state-action distributions, using given state and action features. Its run-time complexity depends on the number of features, not the size of the underlying MDPs. Second, it operates in a fully online fashion without having to store any sample, thus having minimal memory footprint. Third, we prove that it is sample-efficient, solving for the optimal policy to high precision with a sample complexity linear in the dimension of the parameter space.