Miracle-dz/UniFAR-FTUs huggingface dataset:
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein. By contrast, most mutations described in FGFR2 localize to just two exons (IIIa and IIIc), encoding the IgIII domain in the extracellular region, resulting in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Interpretation of this apparent clustering of mutations in FGFR2 has been hampered by the absence of any complete FGFR2-mutation screen. We have now undertaken such a screen in 259 patients with craniosynostosis in whom mutations in other genes (e.g., FGFR1, FGFR3, and TWIST) had been excluded; part of this screen was a cohort-based study, enabling unbiased estimates of the mutation distribution to be obtained. Although the majority (61/62 in the cohort sample) of FGFR2 mutations localized to the IIIa and IIIc exons, we identified mutations in seven additional exons-including six distinct mutations of the tyrosine kinase region and a single mutation of the IgII domain. The majority of patients with atypical mutations had diagnoses of Pfeiffer syndrome or Crouzon syndrome. Overall, FGFR2 mutations were present in 9.8% of patients with craniosynostosis who were included in a prospectively ascertained sample, but no mutations were found in association with isolated fusion of the metopic or sagittal sutures. We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.
APPLICATION ASPECTS OF HYBRID PV/T SOLAR SYSTEMS

PV modules show temperature increase during their operation due to the absorption of solar radiation, as most of it is converted into heat and not into electricity. Hybrid Photovoltaic/Thermal (PV/T) solar systems combine a simultaneous conversion of solar radiation in electricity and heat. These devices consist of PV modules and heat extraction units mounted together, by which a circulating fluid of lower temperature than that of PV modules is heated by cooling them. An extensive study on water and air cooled PV/T solar systems has been conducted at the University of Patras, where hybrid prototypes have been experimentally studied. The water cooled PV/T systems consist of metallic heat exchanger placed at PV module rear surface, by which water circulating through pipes is heated. The methodology of Life Cycle Assessment (LCA) has been used to do an energetic and environmental assessment of the heat recovery system. The goal of this study, carried out at the University of Rome “ La Sapienza”, was to verify the benefits of heat recovery, implemented by a specific software for LCA, SimaPro 5.0. In this work we present the design, performance and aspects of improved PV/T systems based on the LCA results, giving guidelines for their application.
Obesity Is an Independent Risk Factor for GERD Symptoms and Erosive Esophagitis

INTRODUCTION:An association between obesity and GERD symptoms has been reported; however, study results have been inconsistent and it is not known whether an association persists after adjusting for other known GERD risk factors.METHODS:We carried out a cross-sectional study to determine the prevalence and risk factors of GERD in volunteers (VA employees). Participants completed a Gastroesophageal Reflux Questionnaire, the Block 98 Food Frequency Questionnaire, provided height and weight information, and were invited for upper endoscopy with biopsies. Associations of body mass index (BMI) with GERD symptoms and erosive esophagitis were examined separately in multiple logistic regression analyses adjusting for age, sex, race, GERD symptoms, dietary intake, education level, family history of GERD, H. pylori infection, and the presence and distribution of gastritis.RESULTS:Four hundred and fifty-three persons (mean age 44 yr, 70% women and 43% black) provided complete information on heartburn, regurgitation, and BMI (50% of 915 who received questionnaires). Of the 196 who underwent endoscopy, 44 (22%) had esophageal erosions and 118 (26%) reported at least weekly heartburn or regurgitation. A dose–response relationship between frequency of heartburn or regurgitation and higher BMI was observed. Compared to participants without weekly symptoms, a significantly larger proportion of the 118 with these symptoms were either overweight (BMI 25–30) (35% vs 32%) or obese (BMI >30) (39% vs 26%), p for linear trend 0.004. Relative to those with no esophageal erosions, those with erosions were more likely to be overweight (39% vs 26%) or obese (41% vs 32%), p= 0.04. Obese participants were 2.5 times as likely as those with normal BMI (<25) to have reflux symptoms or esophageal erosions. The association between BMI and GERD symptoms persisted in direction and magnitude after adjustment for potential confounders.CONCLUSIONS:Overweight and obesity are strong independent risk factor of GERD symptoms and esophageal erosions. The amount or composition of dietary intake does not appear to be a likely explanation for these findings.
Snow process monitoring in montane forests with time‐lapse photography

A camera network with hourly resolution was used to monitor the complex snow processes in montane forest environments. We developed a semi‐automatic procedure to interpret snow depths from the digital images, which exhibited high consistency with manual measurements and station‐based recordings. To extract snow interception dynamics, six binary classification methods were compared. The MaxEntropy classifier demonstrated better performance than the other methods under conditions of varying illumination and was therefore selected as the method used for quantifying snow in tree canopies. Snow accumulation and ablation on the ground, as well as snow loading and unloading in the forest canopies, were investigated using snow parameters derived from the time‐lapse photography monitoring. The influences of meteorologic conditions, forest cover, and elevation on the snow processes were also considered. Time‐lapse photography proved to be an effective and low‐cost approach for collecting useful information on snow processes and facilitating the set‐up of hydrological models.
Improving duplicate elimination in storage systems

Minimizing the amount of data that must be stored and managed is a key goal for any storage architecture that purports to be scalable. One way to achieve this goal is to avoid maintaining duplicate copies of the same data. Eliminating redundant data at the source by not writing data which has already been stored not only reduces storage overheads, but can also improve bandwidth utilization. For these reasons, in the face of today's exponentially growing data volumes, redundant data elimination techniques have assumed critical significance in the design of modern storage systems.Intelligent object partitioning techniques identify data that is new when objects are updated, and transfer only these chunks to a storage server. In this article, we propose a new object partitioning technique, called fingerdiff, that improves upon existing schemes in several important respects. Most notably, fingerdiff dynamically chooses a partitioning strategy for a data object based on its similarities with previously stored objects in order to improve storage and bandwidth utilization. We present a detailed evaluation of fingerdiff, and other existing object partitioning schemes, using a set of real-world workloads. We show that for these workloads, the duplicate elimination strategies employed by fingerdiff improve storage utilization on average by 25%, and bandwidth utilization on average by 40% over comparable techniques.
Discrimination of spatial and temporal parameters in electrocutaneous stimulation

This study aimed to investigate the human ability in discrimination of spatial and temporal parameters in electrocutaneous stimulation. Three surface electrodes were positioned on the ventral forearm of 14 able-bodied subjects. The subjects were instructed to discriminate between: (1) six different stimulation sites or site pairs, or (2) five different stimulation frequencies, or (3) hybrid parameters including both stimulation site and frequency, in three respective experiments. The results showed that two-site discrimination had a significantly lower success rate than one-site discrimination with a mean difference up to 12.1% (p<0.01). Temporal (frequency) discrimination appeared more challenging compared to spatial (site) discrimination. Moreover, the female subjects’ performance was noticeably better than the males in all the three discrimination tasks with the mean difference up to 11.9% (p<0.01), 15.4% (p<0.01), and 16.7% (p<0.001), respectively. The findings may provide an insight into building an effective sensory feedback strategy in relation to development of functional hand prostheses and treatment of phantom limb pain.
Teaching consistency of UML specifications

Consider the situation that you have a data model, a functional model and a process model of a system, perhaps made by different analysts at different times. Are these models consistent with each other? A relevant question in practice - and therefore we think it should also be addressed in our courses. However, UML modelling textbooks don't discuss it, so we developed our own teaching materials. In this position paper we explain why and how.
Bargaining Outcomes as the Result of Coordinated Expectations

Experimental studies of two-person sequential bargaining demonstrate that the concept of subgame perfection is not a reliable predictor of actual behavior. Alternative explanations argue that fairness influences outcomes and that bargainer expectations matter and are likely not to be coordinated at the outset. This study examines the process by which bargainers in dyads coordinate their expectations on a bargaining convention and how this convention is supported by the seemingly empty threat of rejecting positive but small subgame perfect offers. To organize the data from this experiment, a Markov model of adaptive expectations and bounded rationality is developed. The model predicts actual behavior quite closely.
Report on INEX 2013

INEX investigates focused retrieval from structured documents by providing large test collections of structured documents, uniform evaluation measures, and a forum for organizations to compare their results. This paper reports on the INEX 2013 evaluation campaign, which consisted of four activities addressing three themes: searching professional and user generated data (Social Book Search track); searching structured or semantic data (Linked Data track); and focused retrieval (Snippet Retrieval and Tweet Contextualization tracks). INEX 2013 was an exciting year for INEX in which we consolidated the collaboration with (other activities in) CLEF and for the second time ran our workshop as part of the CLEF labs in order to facilitate knowledge transfer between the evaluation forums. This paper gives an overview of all the INEX 2013 tracks, their aims and task, the built test-collections, and gives an initial analysis of the results.
C57BL/6J, DBA/2J, and DBA/2J.Gpnmb+ mice have different visual signal processing in the inner retina

Purpose To characterize differences in retinal ganglion cell (RGC) function in mouse strains relevant to disease models. C57BL/6J (B6) and DBA/2J (D2) are the two most common mouse strains; D2 has two mutated genes, tyrosinase-related protein 1 (Tyrp1) and glycoprotein non-metastatic melanoma protein B (Gpnmb), causing iris disease and intraocular pressure (IOP) elevation after 6 months of age that results in RGC degeneration, and is the most widely used model of glaucoma. DBA/2J.Gpnmb+ (D2.Gpnmb+) is the wild type for the Gpnmb mutation and does not develop IOP elevation and glaucoma. Methods Young (2–4 months of age) B6, D2, and D2.Gpnmb+ mice (n=6 for each group) were tested with pattern electroretinogram (PERG) in response to different contrasts and spatial frequencies. PERG amplitude and latency dependencies on stimulus parameters (transfer functions) were established for each mouse strain, together with corresponding thresholds for contrast and spatial resolution. Results PERG analysis showed that B6, D2, and D2.Gpnmb+ mice had comparable contrast threshold and spatial resolution. Suprathreshold spatial contrast processing, however, had different characteristics in the three strains. PERG amplitude and latency changes with increasing contrast were different between B6 and D2 as well as between D2 and D2.Gpnmb+. Conclusions B6, D2, and D2.Gpnmb+ mice have different characteristics of PERG spatial contrast processing consistent with different mechanisms of contrast gain control. This may imply differences in the activity of underlying PERG generators and synaptic circuitry in the inner retina.
Classifying Music Audio with Timbral and Chroma Features

Music audio classification has most often been addressed bymodeling the statistics of broad spectral features, which, by design, exclude pitch information and reflect mainly instrumentation. We investigate using instead beat-synchronous chroma features, designed to reflect melodic and harmonic content and be invariant to instrumentation. Chroma features are less informative for classes such as artist, but contain information that is almost entirely independent of the spectral features, and hence the two can be profitably combined: Using a simple Gaussian classifier on a 20-way pop music artist identification task, we achieve 54% accuracy with MFCCs, 30% with chroma vectors, and 57% by combining the two. All the data and Matlab code to obtain these results are available. 1
Submarine Deep‐Water Lava Flows at the Base of the Western Galápagos Platform

To investigate the initial phases of magmatism at the leading edge of the upwelling mantle plume, we mapped, photographed, and collected samples from two long, deep‐water lava flows located at the western base of the Galápagos Platform using the remotely operated vehicle Hercules. Lavas were recovered from four areas on the seafloor west of Fernandina volcano, including the western flow fronts of two deep‐water flows, heavily sedimented terrain between the two flows, and the eastern, shallower end of one flow. The sediment cover and morphologies are distinct between the western flow fronts and the eastern region based on seafloor imagery, suggesting that the long lava flows are not a single eruptive unit. Major and trace element concentrations reveal both tholeiitic and alkalic compositions and support the interpretation that multiple eruptive units comprise the deep‐water flows. Alkalic lavas have higher [La/Sm]N ratios (2.05–2.12) and total alkali contents (5.18–5.40) compared to tholeiitic lavas, which have [La/Sm]N ratios ranging from 1.64 to 1.68 and total alkali contents ranging from 3.07 to 4.08 wt%. Radiogenic isotope ratios are relatively homogeneous, suggesting a similar mantle source. We use petrologic models to assess three alternative mechanisms for the formation of the alkalic magmas: (1) high‐pressure crystallization of clinopyroxene, (2) mixing of high silica and mafic magmas, and (3) variable extents of melting of the same mantle source. Our modeling indicates that the alkalic samples form from lower extents of melting compared to the tholeiitic lavas and suggests that the deep‐water alkalic lavas are analogous to the initial, preshield building phase observed south of Hawaii and at the base of Loihi Seamount.
Mutations in Cytochrome Assembly and Periplasmic Redox Pathways in Bordetella pertussis

ABSTRACT Transposon mutagenesis of Bordetella pertussis was used to discover mutations in the cytochrome c biogenesis pathway called system II. Using a tetramethyl-p-phenylenediamine cytochrome c oxidase screen, 27 oxidase-negative mutants were isolated and characterized. Nine mutants were still able to synthesize c-type cytochromes and possessed insertions in the genes for cytochrome c oxidase subunits (ctaC, -D, and -E), heme a biosynthesis (ctaB), assembly of cytochrome c oxidase (sco2), or ferrochelatase (hemZ). Eighteen mutants were unable to synthesize all c-type cytochromes. Seven of these had transposons in dipZ (dsbD), encoding the transmembrane thioreduction protein, and all seven mutants were corrected for cytochrome c assembly by exogenous dithiothreitol, which was consistent with the cytochrome c cysteinyl residues of the CXXCH motif requiring periplasmic reduction. The remaining 11 insertions were located in the ccsBA operon, suggesting that with the appropriate thiol-reducing environment, the CcsB and CcsA proteins comprise the entire system II biosynthetic pathway. Antiserum to CcsB was used to show that CcsB is absent in ccsA mutants, providing evidence for a stable CcsA-CcsB complex. No mutations were found in the genes necessary for disulfide bond formation (dsbA or dsbB). To examine whether the periplasmic disulfide bond pathway is required for cytochrome c biogenesis in B. pertussis, a targeted knockout was made in dsbB. The DsbB− mutant makes holocytochromes c like the wild type does and secretes and assembles the active periplasmic alkaline phosphatase. A dipZ mutant is not corrected by a dsbB mutation. Alternative mechanisms to oxidize disulfides in B. pertussis are analyzed and discussed.
CT Appearance of Adrenal Cortical Carcinoma

The computed tomographic (CT) findings in eight patients with proven primary adrenal cortical carcinoma are presented. The tumors ranged in size from 9 to 22 cm in diameter and all exhibited central necrosis. Contrast enhancement was irregular in all cases and associated tumor calcification was present in three cases. The CT appearance of a huge adrenal mass with central necrosis is typical of adrenal cortical carcinoma hut can occasionally he seen with pheochromocytoma or a large metastasis to the adrenal gland.
Perspectives on Requirements Understandability -- For Whom Does the Teacher's Bell Toll?

Software development decision makers use many different information sources as a basis for their decisions. One of these sources is the requirements specification, which is used in a large number of processes throughout the software development cycle. In order to make good decisions, the quality and completeness of the available information is important. Hence, requirements must be written in a way that is understandable for the different decision makers. However, requirements are rarely written with an explicit perception of how to make them understandable for different target usages. In this study we investigate the implicit assumptions of current and future requirements engineers and their teachers regarding which usages they perceive as most important when creating requirements. This is contrasted with industrial viewpoints of the relative importance of different requirements usages. The results indicate that the teachers and future requirements engineers have a strong focus towards in-project perspectives, and very little in common with the perspectives of industry managers. Thus, we are training students to serve as software developers, and not software engineering managers.
Sunspot series prediction using a Multiscale Recurrent Neural Network

A prediction scheme for sunspot series using a Multiscale Bilinear Recurrent Neural Network (M-BRNN) is proposed in this paper. The recurrent neural network adopted in this scheme is the Bilinear recurrent neural network. The M-BRNN is a combination of several Bilinear Recurrent Neural Network (BRNN) models. Each BRNN predicts a signal at a certain resolution level obtained by the wavelet transform. In order to evaluate the performance of the proposed M-BRNN-based predictor, experiments are conducted on the Wolf sunspot series number data and the resulting prediction accuracy is compared with those of conventional MultiLayer Perceptron Type Neural Network (MLPNN)-based and BRNN-based predictors. The results show that the proposed M-BRNN-based predictor outperforms the MLPNN-based and BRNN-based predictors in terms of the Normalized Mean Squared Error (NMSE).
Extending bufferless on-chip networks to high-throughput workloads

Bufferless networks-on-chip (NoC) has been proposed to reduce network cost by removing router input buffers and improve energy-efficiency. However, bufferless NoC has some limitations that include lower network throughput caused by deflection routing at high load. In addition, the longer router critical path impacts the router frequency, which reduces the amount of bandwidth provided by the network router. These limitations reduce any benefit of bufferless NoC - especially for high-throughput workloads such as GPGPU. In this work, we first provide a simple analysis into how the benefit of bufferless NoC can be reduced for high throughput workloads, especially in terms of energy-efficiency. We then propose clumsy flow control (CFC) - a congestion control mechanism that can reduce the amount of deflection and improve the efficiency of bufferless NoC. The clumsy flow control enables the allocation to be simplified and we propose a novel switch allocation (randomized-deterministic allocation) which significantly reduces the router critical path. The combination of these two techniques result in our bufferless NoC to exceed the system performance of buffered network by approximately 7% (up to 22%) while reducing network area by 53% and energy by 52%.
Studying Assignment Size and Student Performance Using Propensity Score Matching

Teachers and instructors assign students homework of varying lengths. There is considerable evidence that factors such as cognitive load play a role in student performance and learning, but there has not been sufficient study of how these phenomena play out in the specific case of the length of homework. In this paper, we study the impact of assignment size on student performance. This paper represents the first attempt we are aware of to study how long assignments should be, in real-world data, in order to maximize student performance and learning. However, natural assignments of different lengths often vary in other ways. We control for this limitation using propensity score matching (PSM), an approach that helps to control for variables affecting outcome besides the intervention of interest. As such, we can conduct our analysis on large-scale data naturalistically collected through a digital educational platform. We use PSM to study the effect of assignment size on student performance while controlling for assignment difficulty, discrimination and reliability. We find that shorter assignments result in higher performance. These results can be used as a guideline for instructors and instructional designers when designing course assignments.