Miracle-dz/UniFAR-FTUs huggingface dataset:
A recurrent de novo missense mutation in UBTF causes developmental neuroregression

UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10: g.42290219C>T, NM_014233.3: c.628G>A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2.5 to 3 years and characterized by slow progression of global motor, cognitive and behavioral dysfunction. Notable early features included hypotonia with a floppy gait, high-pitched dysarthria and hyperactivity. Later features included aphasia, dystonia, and spasticity. Speech and ambulatory ability were lost by the early teens. Magnetic resonance imaging showed progressive generalized cerebral atrophy (supratentorial> infratentorial) with involvement of both gray and white matter. Patient fibroblasts showed normal levels of UBTF transcripts, increased expression of pre-rRNA and 18S rRNA, nucleolar abnormalities, markedly increased numbers of DNA breaks, defective cell-cycle progression, and Received: August 31, 2017. Revised: November 29, 2017. Accepted: December 19, 2017 VC The Author(s) 2018. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com 691 Human Molecular Genetics, 2018, Vol. 27, No. 4 691–705 doi: 10.1093/hmg/ddx435 Advance Access Publication Date: 2 January 2018
Evaluation of Economic Benefits of DER Aggregation

The penetration of distributed energy resources (DER), including distributed generators and flexible demand, is increasing worldwide and is expected to increase further encouraged by environmental policies and decreasing costs. Due to their large number and spatial dispersion, DER's effective integration into the operation of electricity markets is a complex and demanding task. Moreover, their relatively small size makes their direct individual participation in the electricity market, although theoretically possible, highly impractical. This paper aims to quantify the benefits of the aggregated participation of DER in the electricity market via a DER Aggregator. The DER Aggregator's interactions with his customers and with the wholesale market are modeled as a bilevel programming problem: the upper level describes the DER Aggregator decision-making; the lower level encompasses the DERs’ decision model and the market clearing process. Several scenarios are examined in order to draw general conclusions regarding the conditions under which DER aggregation is beneficial for DER owners and the aggregator.
Field emission image analysis: Precise determination of emission site density and other parameters

We report a simple and detailed simulation based analysis of an experimental field emission (FE) image captured on a phosphor coated indium tin oxide (ITO)/glass plate due to the electron emission from a multiwalled carbon nanotube (MWCNT) film. Emission intensity versus effective emissive area, number of CNTs present in the film contributing emission process and number density of MWCNTs at high field (during FE process) along with other FE parameters viz. turn on field, threshold field are determined, which agrees well with experimental results. Over estimation of calculated value over experimental results is realized with creation of new emission sites at high electric field due to combined effect of divergence of electron within electrode because of electron-air molecule collision, assumption of evenly placement of emitters during calculation, damages and/or tearoff of emitters at high electric field, contribution of adsorbates of MWCNT walls and the energy loss due to absorption of phosphor atom. This analysis renders a unique way to analyze field emission data and supports the theoretical formulation to evaluate the best possible values of FE parameters. Copyright © 2016 VBRI Press.
Cognitive specialization for learning faces is associated with shifts in the brain transcriptome of a social wasp

ABSTRACT The specialized ability to learn and recall individuals based on distinct facial features is known in only a few, large-brained social taxa. Social paper wasps in the genus Polistes are the only insects known to possess this form of cognitive specialization. We analyzed genome-wide brain gene expression during facial and pattern training for two species of paper wasps (P. fuscatus, which has face recognition, and P. metricus, which does not) using RNA sequencing. We identified 237 transcripts associated with face specialization in P. fuscatus, including some transcripts involved in neuronal signaling (serotonin receptor and tachykinin). Polistes metricus that learned faces (without specialized learning) and P. fuscatus in social interactions with familiar partners (from a previous study) showed distinct sets of brain differentially expressed transcripts. These data suggest face specialization in P. fuscatus is related to shifts in the brain transcriptome associated with genes distinct from those related to general visual learning and social interactions. Highlighted Article: Comparative brain transcriptomics of Polistes paper wasps identifies molecular mechanisms associated with individual facial recognition, which function in neural signaling and signal transduction.
Metabolic Pathways and Networks Associated With Tobacco Use in Military Personnel

Objective: The aim of this study is to use high-resolution metabolomics (HRM) to identify metabolic pathways and networks associated with tobacco use in military personnel. Methods: Four hundred deidentified samples obtained from the Department of Defense Serum Repository were classified as tobacco users or nonusers according to cotinine content. HRM and bioinformatic methods were used to determine pathways and networks associated with classification. Results: Eighty individuals were classified as tobacco users compared with 320 nonusers on the basis of cotinine levels at least 10 ng/mL. Alterations in lipid and xenobiotic metabolism, and diverse effects on amino acid, sialic acid, and purine and pyrimidine metabolism were observed. Importantly, network analysis showed broad effects on metabolic associations not simply linked to well-defined pathways. Conclusions: Tobacco use has complex metabolic effects that must be considered in evaluation of deployment-associated environmental exposures in military personnel.
Optimized Power Dispatch in Wind Farms for Power Maximizing Considering Fatigue Loads

Wake effects in a wind farm (WF) include the wind velocity deficit and the added turbulence. The wind velocity deficit may bring significant loss of the wind power and the added turbulence may cause extra fatigue load on the wind turbines (WTs). Inclusion of the wake effects in the wind farm control design can increase the total captured power by derating the upwind WTs. However, this may increase the turbulence and cause more fatigue load on the downwind WTs. This paper proposes an optimized active power dispatch strategy for WFs to maximize the total captured power while maintaining the fatigue load of the shafts and the towers within a certain range from the values using traditional strategy, which adopts maximum power point tracking (MPPT) control for each WT. A WT derating control strategy is included in the WT controller and the fatigue load for the tower and shaft is evaluated offline at a series of turbulence intensity, mean wind speed and active power reference to form a lookup table, which is used for the WF control. The proposed strategy is compared with WT MPPT control strategy and WF MPPT control strategy. The simulation results show the effectiveness of the proposed strategy.
A Stratified Meta-Analysis of the Association between Exposure to Environmental Tobacco Smoke during Childhood and Adulthood and Urothelial Bladder Cancer Risk

Background: Active smoking is a major risk factor for urothelial bladder cancer (UBC). However, the evidence that exposure to environmental tobacco smoke (ETS) either in childhood or adult life is also associated with UBC risk is ambiguous. With this meta-analysis, we aim to summarise how exposure to ETS is associated with UBC risk. Methods: In total, 11 studies (3 cohort studies, 8 case-control studies) were included in this meta-analysis and summary odds ratios (SORs) for UBC risk were calculated for never smokers who were exposed to ETS during childhood at home, during adulthood at home, or during adulthood in a work environment compared to never smokers who were never exposed to ETS. Sensitivity analyses were conducted to test the robustness of findings. Results: Never smokers exposed to ETS during childhood (SOR = 1.04, 95% confidence interval (CI) = 0.82–1.26), during adulthood at work (SOR = 0.98, 95% CI = 0.78–1.18) or at home (SOR = 0.99, 95% CI = 0.83–1.15) were at a similar risk of UBC compared to never smokers who were never exposed to ETS. Results for males and females were similar. Also, when pooling all estimates during both childhood and adulthood, no effect was observed (SOR = 1.00, 95% CI = 0.89–1.10). Conclusions: Although measurement of exposure to ETS was imprecise, there does not seem to be an association between UBC risk and exposure to ETS during childhood or adulthood. However, the current body of evidence mostly overlooks the duration and intensity of exposure to ETS.
Insights of Phage-Host Interaction in Hypersaline Ecosystem through Metagenomics Analyses

Bacteriophages, as the most abundant biological entities on Earth, place significant predation pressure on their hosts. This pressure plays a critical role in the evolution, diversity, and abundance of bacteria. In addition, phages modulate the genetic diversity of prokaryotic communities through the transfer of auxiliary metabolic genes. Various studies have been conducted in diverse ecosystems to understand phage-host interactions and their effects on prokaryote metabolism and community composition. However, hypersaline environments remain among the least studied ecosystems and the interaction between the phages and prokaryotes in these habitats is poorly understood. This study begins to fill this knowledge gap by analyzing bacteriophage-host interactions in the Great Salt Lake, the largest prehistoric hypersaline lake in the Western Hemisphere. Our metagenomics analyses allowed us to comprehensively identify the bacterial and phage communities with Proteobacteria, Firmicutes, and Bacteroidetes as the most dominant bacterial species and Siphoviridae, Myoviridae, and Podoviridae as the most dominant viral families found in the metagenomic sequences. We also characterized interactions between the phage and prokaryotic communities of Great Salt Lake and determined how these interactions possibly influence the community diversity, structure, and biogeochemical cycles. In addition, presence of prophages and their interaction with the prokaryotic host was studied and showed the possibility of prophage induction and subsequent infection of prokaryotic community present in the Great Salt Lake environment under different environmental stress factors. We found that carbon cycle was the most susceptible nutrient cycling pathways to prophage induction in the presence of environmental stresses. This study gives an enhanced snapshot of phage and prokaryote abundance and diversity as well as their interactions in a hypersaline complex ecosystem, which can pave the way for further research studies.
Power-Efficient Multi-Quality Multicast Beamforming Based on SVC and Superposition Coding

In this paper, we consider multi-quality multicast of a video stream from a multi-antenna base station (BS) to multiple single-antenna users requiring the video at different quality levels, using scalable video coding (SVC). Leveraging the layered structure of SVC and exploiting superposition coding (SC) as well as successive interference cancelation (SIC), we propose a power-efﬁcient layer-based multi- quality multicast beamforming scheme. To reduce the computational complexity, we also propose a power- efﬁcient quality-based multi-quality multicast beamforming scheme, which further utilizes the layered structure of SVC and quality requirements of all users. Under each scheme, for given quality requirements of all users, we formulate the corresponding beamforming design as a non-convex power minimization problem, and obtain a globally optimal solution for a class of special cases as well as a locally optimal solution for the general case. Then, we show that the minimum total transmission power of the quality-based optimization problem is the same as that of the layer-based optimization problem, although the former requires a lower computational complexity. Finally, numerical results show that the proposed solutions achieve better performance than existing solutions.
Focal Correction of Severe Fixed Kyphosis with Single Level Posterior Ponte Osteotomy and Interbody Fusion

Objective: To report the successful correction of a severe, fixed kyphotic deformity utilizing a combination posterior lumbar interbody fusion (PLIF) and Ponte osteotomy at the site of acute kyphosis. Summary of Background Data: There have been no reports on the experience and surgical strategy of combined one-level focal PLIF and Ponte osteotomy for fixed severe kyphotic deformity. Typically, these corrections would need a pedicle subtraction osteotomy or a vertebrectomy. Methods: A 24-year-old man presented with progressive back pain and a fixed severe thoracolumbar kyphosis centered at the L2-L3 disc space seven years after removal of instrumentation for intractable infection following correction of Scheuermann's Kyphosis. The patient also demonstrated pseudoarthrosis of the posterior thoracolumbar fusion bed. The original operative plan was to perform a vertebral column resection (VCR) of L2 to correct his severe kyphosis. During preparation for the VCR, the patient’s deformity corrected completely after insertion of blunt distraction paddles for the interbody fusion after the Ponte osteotomy at L2-L3. A VCR was avoided, and the construct was able to be completed with simple rod insertion and posterolateral fusion. Results: The described technique achieved 69 degrees of correction at the L2-L3 disc space without any remodeling of the surrounding vertebrae. The C7 plumb line was normalized, and the patient was able to stand upright with horizontal gaze and without pre-existing discomfort. At the six-month follow-up, the patient reported a significant improvement in pain and was able to resume normal activities.
Bacteria-based repair and self-healing of concrete

Durability problems in concrete can often be linked to a high permeability, which is either caused by a high matrix permeability or the presence of cracks. Therefore, treatments that reduce the permeability of the matrix, or that close the crack from ingress of aggressive agents carried by water or air, would substantially enhance the service life of a concrete structure. Several chemical products are currently in use for consolidation and crack repair, but a new technique that has been the focus of much research efforts over the last decade is the bacteria-based calcium carbonate precipitation. This technique is now slowly making its way towards practical applications. The principles of the technique, the important influential parameters and the recent advances related to its use for consolidation, surface protection, external crack repair, and self-healing of cracks in concrete are discussed in this article. Also the wider applicability for mechanical strengthening and consolidation of natural stone and soils is shortly treated.
Economic Inefficiency of Passive Transmission Rights in Congested Electricity Systems with Competitive Generation

The main thesis of this paper is that passive transmission rights such as Transmission Congestion Contracts (TCCs) that are compensated ex-post based on nodal prices resulting from optimal dispatch by an Independent System Operator (ISO) will be preempted by the strategic bidding of the generators. Thus, even when generation is competitive, rational expectations of congestion will induce implicit collusion enabling generators to raise their bids above marginal costs and capture the congestion rents, leaving the TCCs uncompensated. These conclusions are based on a Cournot model of competition across congested transmission links where an ISO dispatches generators optimally based on bid prices. We characterize the Cournot equilibrium in congested electricity networks with two and three nodes. We show that absent active transmission rights trading, the resulting equilibrium may be at an inefficient dispatch and congestion rents will be captured by the generators. We also demonstrate how active trading of transmission rights in parallel with 42 competitive energy market can prevent the price distortion and inefficient dispatch associated with passive transmission rights.
Seismic response estimation of steel plate shear walls using nonlinear static methods

One of the major components for performance based seismic design is accurate estimation of critical seismic demand parameters. While nonlinear seismic analysis is the most appropriate analysis method for estimation of seismic demand parameters, this method is very time consuming and complex. Single mode pushover analysis method, N2 method and multi-mode pushover analysis method, modal pushover analysis (MPA) are two nonlinear static methods that have recently been used for seismic performance evaluation of few lateral load-resisting systems. This paper further investigates the applicability of N2 and MPA methods for estimating the seismic demands of ductile unstiffened steel plate shear walls (SPSWs). Three different unstiffened SPSWs (4-, 8-, and 15-storey) designed according to capacity design approach were analysed under artificial and real ground motions for Vancouver. A comparison of seismic response quantities such as, height-wise distribution of floor displacements, storey drifts estimated using N2 and MPA methods with more accurate nonlinear seismic analysis indicates that both N2 and MPA procedures can reasonably estimates the peak top displacements for low-rise SPSW buildings. In addition, MPA procedure provides better predictions of inter-storey drifts for taller SPSW. The MPA procedure has been extended to provide better estimate of base shear of SPSW.
Microwave Permittivity of Trace sp2 Carbon Impurities in Sub-Micron Diamond Powders

Microwave dielectric loss tangent measurements are demonstrated as a method for quantifying trace sp2-hybridized carbon impurities in sub-micron diamond powders. Appropriate test samples are prepared by vacuum annealing at temperatures from 600 to 1200 °C to vary the sp2/sp3 carbon ratio through partial surface graphitization. Microwave permittivity measurements are compared with those obtained using X-ray photoelectron spectroscopy (XPS), Raman spectroscopy, and electron energy loss spectroscopy (EELS). The average particle size remains constant (verified by scanning electron microscopy) to decouple any geometric dielectric effects from the microwave measurements. After annealing, a small increase in sp2 carbon was identified from the XPS C 1s and Auger spectra, the EELS σ* peak in the C 1s spectra, and the D and G bands in Raman spectroscopy, although a quantifiable diamond to G-band peak ratio was unobtainable. Surface hydrogenation was also evidenced in the Raman and XPS O 1s data. Microwave cavity perturbation measurements show that the dielectric loss tangent increases with increasing sp2 bonding, with the most pertinent finding being that these values correlate with other measurements and that trace concentrations of sp2 carbon as small as 5% can be detected.
Thermally Tunable Ultrasensitive Infrared Absorption Spectroscopy Platforms Based on Thin Phase-Change Films

The thermal tunability of the optical and electrical properties of phase-change materials has enabled the decades-old rewritable optical data storage and the recently commercialized phase-change memory devices. Recently, phase-change materials, in particular, Ge2Sb2Te5 (GST), have been considered for other thermally configurable photonics applications, such as active plasmonic surfaces. Here, we focus on nonplasmonic field enhancement and demonstrate the use of the phase-change materials in ultrasensitive infrared absorption spectroscopy platforms employing interference-based uniform field enhancement. The studied structures consist of patternless thin GST and metal films, enabling simple and large-area fabrication on rigid and flexible substrates. Crystallization of the as-fabricated amorphous GST layer by annealing tunes (redshifts) the field-enhancement wavelength range. The surfaces are tested with ultrathin chemical and biological probe materials. The measured absorption signals are found to be compa.
An Ultralow Loss Inductorless $dv/dt$ Filter Concept for Medium-Power Voltage Source Motor Drive Converters With SiC Devices

In this paper, a novel <inline-formula><tex-math notation="LaTeX">$dv/dt$</tex-math></inline-formula> filter is presented targeted for 100-kW to 1-MW voltage source converters using silicon carbide (SiC) power devices. This concept uses the stray inductance between the power device and the converter output as a filter component in combination with an additional small <italic>RC</italic>-link. Hence, a lossy, bulky, and costly filter inductor is avoided and the resulting output <inline-formula><tex-math notation="LaTeX">$dv/dt$</tex-math></inline-formula> is limited to 5–10 kV/<inline-formula><tex-math notation="LaTeX">$\mu$</tex-math></inline-formula>s independent of the output current and switching speed of the SiC devices. As a consequence, loads with <inline-formula> <tex-math notation="LaTeX">$dv/dt$</tex-math></inline-formula> constraints, e.g., motor drives can be fed from SiC devices enabling full utilization of their high switching speed. Moreover, a filter-model is proposed for the selection of filter component values for a certain <inline-formula><tex-math notation="LaTeX">$dv/dt$</tex-math> </inline-formula> requirement. Finally, results are shown using a 300-A 1700-V SiC metal–oxide–semiconductor field-effect transistor (<sc>mosfet</sc>). These results show that the converter output <inline-formula><tex-math notation="LaTeX">$dv/dt$</tex-math></inline-formula> can be limited to 7.5 kV/ <inline-formula><tex-math notation="LaTeX">$\mu$</tex-math></inline-formula>s even though values up to 47 kV/ <inline-formula><tex-math notation="LaTeX">$\mu$</tex-math></inline-formula>s were measured across the SiC <sc>mosfet </sc> module. Hence, the total switching losses, including the filter losses, are verified to be three times lower compared to when the <sc>mosfet</sc> <inline-formula><tex-math notation="LaTeX">$dv/dt$</tex-math></inline-formula> was slowed down by adjusting the gate driver.