Miracle-dz/UniFAR-FTUs huggingface dataset:
Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

Familial tooth agenesis (FTA), distinguished by developmental failure of selected teeth, is one of the most prevalent craniofacial anomalies in humans. Mutations in genes involved in WNT/β-catenin signaling, including AXIN2 WNT10A, WNT10B, LRP6, and KREMEN1, are known to cause FTA. However, mutational interactions among these genes have not been fully explored. In this study, we characterized four FTA kindreds with LRP6 pathogenic mutations: p.(Gln1252*), p.(Met168Arg), p.(Ala754Pro), and p.(Asn1075Ser). The three missense mutations were predicted to cause structural destabilization of the LRP6 protein. Two probands carrying both an LRP6 mutant allele and a WNT10A variant exhibited more severe phenotypes, suggesting mutational synergism or digenic inheritance. Biallelic LRP6 mutations in a patient with many missing teeth further supported the dose-dependence of LRP6-associated FTA. Analysis of 21 FTA cases with 15 different LRP6 loss-of-function mutations revealed high heterogeneity of disease severity and a distinctive pattern of missing teeth, with maxillary canines being frequently affected. We hypothesized that various combinations of sequence variants in WNT-related genes can modulate WNT signaling activities during tooth development and cause a wide spectrum of tooth agenesis severity, which highlights the importance of exome/genome analysis for the genetic diagnosis of FTA in this era of precision medicine.
A steady-state throughput analysis of cluster tools: dual-blade versus single-blade robots

An analysis of throughput in a cluster tool with a dual-blade robot operating in steady-state mode is presented. The analysis is based on a single-wafer serial processing cluster tool. Two types of schedules are distinguished, called transport-bound schedules and process-bound schedules. In a transport-bound schedule changes in process times do not affect the throughput of the cluster tool, and denotes the maximum throughput achievable in the cluster tool. In a process-bound schedule, the process time predominates the effect on the throughput. The analysis indicates that a dual-blade robot improves the throughput of the cluster tool over a single-blade robot under process-bound conditions. Under process-bound conditions, a cluster tool with a single-blade robot would need to double the speed of the robot, compared with a dual-blade robot of equivalent speed, to achieve similar throughput. Under transport-bound conditions, the throughput of the cluster tool is the same for both dual-blade and single-blade cluster tools.
ARMADA: Assessing reliable measurement in Alzheimer’s disease and cognitive aging project methods

Early detection of cognitive decline in older adults is a public health priority. Advancing Reliable Measurement in Alzheimer's Disease and Cognitive Aging (ARMADA), a multisite study, is validating cognition, emotion, motor, and sensory modules of the National Institutes of Health Toolbox for Assessment of Neurological and Behavioral Function (NIHTB) in the aging spectrum from cognitively normal to dementia of the Alzheimer's type (DAT).
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

Background Pierre Robin Sequence (PRS) affects approximately 1 per 8500 to 14000 new-borns worldwide. Although the clinical entity is well deﬁned, the pathogenesis of PRS is debated. The present study aims to understand the contribution of genomic imbalances and genetic variants in patients clinically diagnosed of PRS. Methodology A total of 7 independent patients with nonsyndromic PRS thoroughly evaluated by a medical geneticist at a tertiary care hospital, were included in the study. Blood samples were collected from these patients and their family members. Array CGH was performed on all 7 patients and their respective family members for detection of underlying cytogenetic defects. Whole exome sequencing (WES) was performed for 5 families to capture single nucleotide variants or small indels. Results Cytogenetic analyses did not detect any previously reported gross chromosomal aberrations for PRS in the patient cohort. However, copy number variations (CNVs) of size <1 Mb were detected in patients which may have implications in PRS. The present study provided evidence for the occurrence of de novo deletions at 7p14.1 locus in PRS patients: further validating the candidate loci susceptibility in oral clefts. WES data identified LOXL3 as candidate gene, carrying novel deleterious variant, which is suggestive of the role of point mutations in the pathogenesis of PRS. Conclusion The present study offered considerable insight into the contribution of cytogenetic defects and novel point mutation in the etiology of nonsyndromic PRS. Studies comprising large number of cases are required to fully elucidate the genetic mechanisms underlying the PRS phenotype.
Research on Optimization Design for Reinforcing Method of Irregular Cross-Section Arch

This article makes finite-element simulation and analysis on a reinforced two-way curved arch bridge by means of ANSYS, a tool of finite element numerical analysis. Through comparison with the testing results after reinforced, it validates feasibility and reasonability to analysze a reinforced two-way curved arch bridge using a physical unit of ANSYS. On basis of this, it brings forward an idea of optimization design and researches the real two bridges for optimization of reinforcement using ANSYS analyzing and mathematically statistical method. Through effects after and prior optimization, it demonstrates necessity for optimization design of reinforcement and attains some significant conclusions which provide theoretical basis to direct production in the future.
A low-phase-noise 18-GHz-band frequency synthesizer with low frequency step size

Due to development of both wireless communication users and communication line users, utilization of high-speed communications has become a vital essence. High speed digital microwave radios have a great contribution in wireless telecommunications. Having a different and high capacitance, these radios can transmit and receive data in point to point links in far distances up to 30 km. Considering the high rate of utilization such digital microwave radios have in lower bands, it is imperative to utilize such kind of radios in upper bandsfor accessing more channels. One of the radios that plays a significant role in communications is digital microwave radio 18 GHz. Through using a proper modulation in this band, transmitting data with high rate is achievable. In this paper, frequency synthesizer of this radio has been analyzed, designed and implemented. By applying proper changes, this synthesizer can be used as a frequency sweeper either. In this project in order to have a stable local oscillator and a good phase noise of output signal, a phase locked DRO was designed and implemented. This stable signal will be mixed with an L-band synthesized signal and it will generate signal in the band 17.7 GHz -19.7 GHz with step 0.25 MHz. The stable output signal of this synthesizer has a very good phase noise at 18 GHz. We have achieved to phase noise up to -88 dBc/Hz @10 kHz in 18 GHz which is a proper phase noise for using different modulations such as QPSK, 16QAM,64QAMand.
Mechanical Design of the Jasper Mobile Manipulator

This paper describes the mechanical design and analysis of a mobile-manipulator system comprised of a robot manipulator and a mobile base. The combination of the two is known as a mobile manipulator and combines the maneuverability of the mobile base with the accuracy of the robot manipulator. The mechanical design of a new mobile-manipulator system with the robot manipulator mounted on the front is discussed. The device features an innovative 2-DOF (degree-of-freedom) parallelogram coupling device that allows the base of the robot manipulator to translate vertically and roll longitudinally relative to the mobile base. The coupling device has dampers to reduce the vibrations caused by the motion of the mobile base on the robot manipulator and vice versa. The design features the use of omni-wheels that eliminate the problems inherent with traditional caster wheels.Copyright © 2008 by ASME
Benefits Estimation Framework for Automated Vehicle Operations

Automated vehicles have the potential to bring about transformative safety, mobility, energy, and environmental benefits to the surface transportation system. They are also being introduced into a complex transportation system, where second-order impacts, such as the possibility of increased vehicle-miles traveled, are of significant concern. Given the complexity of the impacts, a modeling framework is needed to ensure that they are adequately captured. This report presents a framework for estimating the potential benefits and dis-benefits of technologies contributing to the automation of the Nation’s surface transportation system. Components of the framework include (1) Safety: exposure to near-crash situations, crash prevention, and crash severity reduction; (2) Vehicle mobility: vehicle throughput, both in car following situations and at intersections; (3) Energy / environment: fuel consumption and tailpipe emissions; (4) Accessibility: personal mobility, for motorists and nonmotorists; (5) Transportation system usage: response of travelers to changes in mobility and accessibility, as well as potential new modes of transportation such as increased car sharing; (6) Land use: effects of automation on land use, and (7) Economic analysis: the macro-economic impacts of all of the above changes.
Enhancement of interleukin-2 production by bovine peripheral blood mononuclear cells treated with the combination of anti-programmed death-ligand 1 and cytotoxic T lymphocyte antigen 4 chimeric monoclonal antibodies

Our previous studies demonstrate the therapeutic efficacy against bovine diseases of an anti-bovine programmed death-ligand 1 (PD-L1) chimeric antibody. In humans, PD-1 and PD-L1 antibodies are more effective when combined with an antibody targeting cytotoxic T lymphocyte antigen 4 (CTLA-4) and these combination therapies are therefore clinically used. Here we generated an anti-bovine CTLA-4 chimeric antibody (chAb) to enhance the therapeutic efficacy of the PD-L1 antibody. We further analyzed the effects of dual blockade of CTLA-4 and PD-1 pathways on T-cell responses. The established anti-bovine CTLA-4 chAb showed comparable blocking activity on the binding of bovine CTLA-4 to CD80 and CD86 as the anti-bovine CTLA-4 mouse monoclonal antibody. Anti-bovine CTLA-4 chAb also significantly increased IL-2 production from bovine peripheral blood mononuclear cells (PBMCs). Further, the combination of anti-CTLA-4 chAb with anti-PD-L1 chAb significantly upregulated IL-2 production by PBMCs. These results suggest that the combination of antibodies have higher potential to enhance immune responses against pathogens compared with single administration.
Experimental and Analytical Studies of the Effect of Non-Standard Waveshapes on the Impulse Strength of External Insulation

Various analytical methods are available for predicting the performance of insulation stressed by lightning voltages of non-standard waveshape. This paper describes experimental and analytical studies for evaluating the effectiveness of the prediction methods. Flashover characteristics of typical line insulation were determined using standard and non-standard impulse waves viz., long front, partially chopped and oscillatory impulses. The standard impulse data were used to calibrate the analytical models, which were then used to predict the performance of the insulation stressed by non-standard impulses for comparison with the experimental data.
From pleasure in use to preservation of meaningful memories: a closer look at the sustainability of clothing via longevity and attachment

The short life span of clothing is problematic from the viewpoint of sustainable development, making the study of ways to extend garment use time worthwhile. This current study focuses on person–product attachments to clothing items and the context of attachment. The hypothesis in this study is that deep attachment to clothing offers opportunities to extend the owning and using time of garments. Hence, fostering person–product attachment would be one way to postpone disposal of garments. This study investigates the clothing lifecycle stages where pleasurable use experiences and meaningful memories encourage attachment. In this way, the study contributes to the sustainable design field by providing new research information about person–product attachments to clothing items.
Bio-Ingeniería Computacional en el Estudio de la Hemodinámica y su Interacción con Arterias

This article deals with the importance of studying hemodynamics as an outstanding factor for prediction of vascular diseases. First the governing equations to study arteries and hemodynamics are given. Next discretization of the governing equations for its solution with the fi nite element method are exposed. Finally an effi cient and robust algorithm to analyze the fl uid-structure interaction of blood circulation in arteries is explained. Several example problems are presented showing the capabilities of the formulation presented.
Multivariate statistical monitoring system for microbial population dynamics

Microbiomes in their natural environments vary dynamically with changing environmental conditions. The detection of these dynamic changes in microbial populations is critical for understanding the impact of environmental changes on the microbial community. Here, we propose a novel method to detect time-series changes in the microbiome, based on multivariate statistical process control. By focusing on the interspecies structures, this approach enables the robust detection of time-series changes in a microbiome composed of a large number of microbial species. Applying this approach to empirical human gut microbiome data, we accurately traced time-series changes in microbiota composition induced by a dietary intervention trial. This method was also excellent for tracking the recovery process after the intervention. Our approach can be useful for monitoring dynamic changes in complex microbial communities.
Research Prevention of Reeling Cocoon Sinking for Automatic Silk Reeling Machine

Explain the existing device to avoid reeling cocoon sinking in automatic silk reeling machine, research the prevention of cocoon sinking automatically, and provide the integrated solution to keep cocoons in arrangement for reeling. In general, stop motion rod sends a signal when a minor fault occurs in each end, takes the initiative to prevent fault spread to knotty fault which causes a series of bad effects. Then coordinate with interlocked equilibrium, through end feeding cam to control separating plate, ensure the process safe in the most economical way for the industrial market demand. Operators need not handle the system manually while treating the faults, then removing hidden trouble and raising labor efficiency, so higher grade raw silk can be produced. This technique used can improve machine performances, it is the basis on which silk reeling machine should continue to develop.
Recurrence of Sub-Synchronous Oscillation Accident of Hornsea Wind Farm in UK and Its Suppression Strategy

A large-scale power system breakdown in the United Kingdom caused blackouts in several important cities, losing about 3.2 percent of the load and affecting nearly 1 million power users on 9 August 2019. On the basis of the accident investigation report provided by the UK National Grid, the specific reasons for the sub-synchronous oscillation of Hornsea wind farm were analyzed. The Hornsea wind power system model was established by MATLAB simulation software to reproduce the accident. To solve this problem, based on the positive and negative sequence decomposition, the control strategy of grid-side converter of doubly-fed induction generator is improved to control the positive sequence voltage of the generator terminal, which can quickly recover the voltage by compensating the reactive power at the grid side. Consequently, the influence of the fault is weakened on the Hornsea wind farm system, and the sub-synchronous oscillation of the system is suppressed. The simulation results verify the effectiveness of the proposed control strategy in suppressing the sub-synchronous oscillation of weak AC wind power system after being applied to doubly-fed induction generator, which serves as a reference for studying similar problems of offshore wind power.
Volunteer Service after the Volunteer Service: The Sector of Employment and Veteran Volunteering

The purpose of this article is to illustrate how changes in institutional environment may impact veteran volunteering. We argue that veterans are likely to adapt to new institutional environment as they start working for different sectors such as private, public and nonprofit. Findings suggest that regardless of the sector of employment, veterans are more likely to volunteer than non-veterans. Additionally, veterans in the federal government, nonprofit sector and those who are self-employed are more likely to volunteer than veterans working in the private sector. However, no difference exists between veterans in the local government, state government and the private sector. Inversely, state and local government employment increases the likelihood of volunteering for the non-veterans, but federal employment has no influence. This study aims to fill the gap in our understanding of institutional environment and its impact on veteran volunteering. Implications for practitioners and future research are discussed at the end.
Green Approach for Synthesis of Manganese Nanoparticle using Banana Peel (Musa paradiasca) and its Characterization

This research mainly aims at implementing green approach for synthesizing multifunctional manganese nanoparticles (MnNPs) using aqueous extract of banana peel (Musa paradiasca) and potassium permanganate (KMnO4) as the precursor. As synthesized MnNPs were conﬁrmed initially by a color change and later on characterized by UV-visible (UV-vis) Spectrophotometer, Energy Dispersive Spectroscopy (EDX), X-ray Diﬀraction Spectroscopy (XRD) and Fourier Transform Infrared Spectroscopy (FT-IR). Green approach was carried at various parameters like concentration of precursor solution, reaction time, temperature, etc for optimization. The formation of MnNPs was conﬁrmed by the presence of surface plasmon absorbance band (450 nm) and band at 6 and 6.5 keV of EDX spectrum. Likewise, so formed MnNPs were crystalline nature depicted from the sharp peak observed at 28. 5º and 41° in X-ray diﬀraction pattern. Various types of biomolecules associated with the banana peel extract acting as natural reducer and stabilizer were analyzed from characteristic absorption bands present in the FT-IR spectrum.
Study of self-heating effects, temperature-dependent modeling, and pulsed load-pull measurements on GaN HEMTs

On-wafer RF and IV characterizations are performed for the first time on power GaN high electron-mobility transistors (HEMTs) under pulse and continuous conditions at different temperatures. These measurements give an in-depth understanding of self-heating effects and allow one to investigate the possibility of improving heat-dissipation mechanisms. A pulsed load-pull system that measures the power gain of the device-under-test (DUT) under pulsed RF and bias condition has been developed. To the best of our knowledge, this is the first time that the reflected power at the DUT is measured under the pulse mode of operation. Additionally, an improved small-signal model for power GaN HEMTs that incorporates the geometry of the device is developed at various temperatures. This is the basis for empirical large-signal modeling.
AN improved method of optimization for electrical machines

Methods of optimizing the design of electrical machines are discussed. The augmented Lagrangian multiplier method is described, and an algorithm for this method is introduced. The method is compared with the more familiar exterior penalty function method using, as an example, the cost optimization of permanent magnetic variable-speed drive motors. The improved method is shown to be superior, both in its ability to reach an optimum consistently and in the number of required iterations. >
Acoustics flow analysis in circular duct using sound intensity and dynamic mode decomposition

Sound intensity generation in hard-walled duct with acoustic flow (no mean-flow) is treated experimentally and shown graphically. In paper, numerous methods of visualization illustrating the vortex flow (2D, 3D) can graphically explain diffraction and scattering phenomena occurring inside the duct and around open end area. Sound intensity investigation in annular duct gives a physical picture of sound waves in any duct mode. In the paper, modal energy analysis are discussed with particular reference to acoustics acoustic orthogonal decomposition (AOD). The image of sound intensity fields before and above "cut-off" frequency region are found to compare acoustic modes which might resonate in duct. The experimental results show also the effects of axial and swirling flow. However acoustic field is extremely complicated, because pressures in non-propagating (cut-off) modes cooperate with the particle velocities in propagating modes, and vice versa. Measurement in cylindrical duct demonstrates also the cut-off phenomenon and the effect of reflection from open end. The aim of experimental study was to obtain information on low Mach number flows in ducts in order to improve physical understanding and validate theoretical CFD and CAA models that still may be improved.
A comparison of two instructional approaches in teaching underground rock bolt installation with a Jackleg Drill

An integrated hypermedia training tool on underground rock bolting was evaluated using qualitative and quantitative methodologies to compare it with the traditional method of training underground rock bolters. Usability experiments performed underscore the need to evaluate a new product to ensure that it meets the requirements of users. Statistical results from comparative experiment indicate that a task must be sufficiently complex in order to render a traditional paper-based method less effective than a computer-based method. Additionally, participants in the computer-based group (n = 25) rated the training effectiveness more positively than those in the paper-based group (n = 25).
Dentin hardness differences across various mammalian taxa

Differences in dentin microstructure have been used as a tool for dietary reconstruction; however, the extent that diet is associated with this aspect of dental morphology has yet to be empirically tested. We conducted microhardness tests of mammalian dentin sections, hypothesizing that species with adaptations to particularly hard diets would have softer dentin, owing to a higher proportion of soft intertubular dentin. Species adapted to abrasive diets, in contrast, should have harder dentin, resulting from a higher proportion of hypermineralized peritubular dentin. We examined molar dentin hardness in ten mammalian taxa with durophagous diets, abrasive diets, and a comparative “control” group of mechanical generalists. Samples included six primate taxa and four non‐primate species representing various dietary regimes. Our results reveal significant variation among taxa in overall hardness, but the data do not distinguish between hard and abrasive diets. Several taxa with generalized (i.e., mechanically diverse) diets resemble each other in exhibiting large variance in hardness measurements and comparably soft dentin. The high variation in these species appears to be either a functional signal supporting the niche variation hypothesis or indicate the absence of sustained unidirectional selective pressure. A possible phylogenetic signal of dentin hardness in the data also holds promise for future systematic investigations.