Miracle-dz/UniFAR-FTUs huggingface dataset:
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21. By using state-of-the-art genomics technologies we mapped segmental trisomies at exon-level resolution and identified discrete regions of 1.8–16.3 Mb likely to be involved in the development of 8 DS phenotypes, 4 of which are congenital malformations, including acute megakaryocytic leukemia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anus, severe mental retardation, DS-Alzheimer Disease, and DS-specific congenital heart disease (DSCHD). Our DS-phenotypic maps located DSCHD to a <2-Mb interval. Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS—i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A, or APP, in causing several severe DS phenotypes. Our study demonstrates the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
A biometric security based electronic gadget control using hand gestures

The control over electronic system using hand gestures is an innovative user interface that resolves the complications of using numerous remote controls for appliances. Founded on a unified set of hand gestures, this system interprets the user's hand gestures into pre-specified commands to control one or many devices simultaneously. However, of late, security has been of major concern among the people in using such a system, especially, at critical places like Home Entrances, Cashbox, etc. In order to minimize this issue, we have incorporated Biometric security through Iris recognition that will help in user authentication. Iris recognition, which is a relatively new biometric technology, has great advantages such as variability, stability and security. This proves to be very propitious for high security environments. This paper presents an elaboration of the methodologies employed including object recognition, artificial neural networks, and biometric security systems. All image processing was performed using NI Vision Assistant. In addition, NI LabVIEW was used to train and implement Neural Networks for Hand Gesture Classification. We have developed an automatic hand-gesture based control system that works after authentication (using Iris recognition) of the user.
Ad Recommendation for Sponsored Search Engine via Composite Long-Short Term Memory

Search engine logs contain a large amount of users' click-through data that can be leveraged as implicit indicators of relevance. In this paper we address ad recommendation problem that finding and ranking the most relevant ads with respect to users' search queries. Due to the click sparsity, the conventional methods can hardly model the both inter- and intra-relations among users, queries and ads. We utilize the long-short term memory(LSTM) network to effectively encode two kinds of sequences: the (user, query) sequence and the query word sequence to represent users' query intention in a continuous vector space and decode them as distributions over ads respectively. Further more, we combine these two LSTM networks in an appropriate way to build up a more robust model referred as composite LSTM model(cLSTM) for ad recommendation. We evaluate the proposed cLSTM on real world click-through data set comparing with two baseline methods, the results demonstrate that our proposed model outperforms two baselines and mitigate the click sparsity problem to a certain degree.
MOVING BREATHERS IN BENT DNA WITH REALISTIC PARAMETERS

Recent papers have considered moving breathers (MB) in DNA models including long range interaction due to the dipole moments of the hydrogen bonds. We have recalculated the value of the charge transfer when hydrogen bonds stretch using quantum chemical methods which takes into account the whole nucleoside pairs. We explore the consequences of this value on the properties of MBs, including the range of frequencies for which they exist and their effective masses. They are able to travel through bending points with fairly large curvatures, provided that their kinetic energy is larger than a minimum energy which depends on the curvature. These energies and the corresponding velocities are also calculated in function of the curvature.
The Where, the When, and the How of Immune Monitoring for Cancer Immunotherapies in the Era of Checkpoint Inhibition

Clinical trials with immune checkpoint inhibitors have provided important insights into the mode of action of anticancer immune therapies and potential mechanisms of immune escape. Development of the next wave of rational clinical combination strategies will require a deep understanding of the mechanisms by which combination partners influence the battle between the immune system's capabilities to fight cancer and the immune-suppressive processes that promote tumor growth. This review focuses on our current understanding of tumor and circulating pharmacodynamic correlates of immune modulation and elaborates on lessons learned from human translational research with checkpoint inhibitors. Actionable tumor markers of immune activation including CD8+ T cells, PD-L1 IHC as a pharmacodynamic marker of T-cell function, T-cell clonality, and challenges with conduct of trials that ask scientific questions from serial biopsies are addressed. Proposals for clinical trial design, as well as future applications of peripheral pharmacodynamic endpoints as potential surrogates of early clinical activity, are discussed. On the basis of emerging mechanisms of response and immune escape, we propose the concept of the tumor immunity continuum as a framework for developing rational combination strategies. Clin Cancer Res; 22(8); 1865–74. ©2016 AACR. See all articles in this CCR Focus section, “Opportunities and Challenges in Cancer Immunotherapy. ”
Military digital avionics fiber-optic network design for maintainability and supportability

The use of avionics fiber optics technology is becoming more prevalent. Optical fiber is immune to electromagnetic interference, gives increased bandwidth, saves space, and reduces weight. If used smartly, fiber optics technology can effectively "future-proof" avionics networks. The Boeing 777 PlaneNet program provided a textbook example of "how to" build and deploy fiber optic networks on commercial aircraft (Anderson and Beranek, 1998). Tactical aircraft, however, do not yet have history to draw upon for operational readiness, particularly in the area of aircraft squadron fiber optic network maintainability and supportability. Military aircraft fiber optic network designs must not only consider the harsh operational and maintenance environment, but also need to be deployed in a maintainable and supportable manner. The term maintainability defines how quickly, easily, and cost effectively an avionics fiber optic network design can return to operational status (whether by preventive or corrective maintenance). Mean time to repair (MTTR) is used to quantify and measure maintainability. Supportability, on the other hand, is the degree to which the avionics fiber optic network design characteristics minimize the logistics resources (people, skill levels, parts, publications, tools, test equipment, space) required to sustain the system's operational availability (AO) at an affordable cost throughout the life of the system
The Corporate Governance of Banks - a Concise Discussion of Concepts and Evidence

The author examines the corporate governance of banks. When banks efficiently mobilize and allocate funds, this lowers the cost of capital to firms, boosts capital formation, and stimulates productivity growth. So, weak governance of banks reverberates throughout the economy with negative ramifications for economic development. After reviewing the major governance concepts for corporations in general, the author discusses two special attributes of banks that make them special in practice: greater opaqueness than other industries and greater government regulation. These attributes weaken many traditional governance mechanisms. Next, he reviews emerging evidence on which government policies enhance the governance of banks and draws tentative policy lessons. In sum, existing work suggests that it is important to strengthen the ability and incentives of private investors to exert governance over banks rather than to rely excessively on government regulators. These conclusions, however, are particularly tentative because more research is needed on how legal, regulatory, and supervisory policies influence the governance of banks.
Magic Ring: A Finger-Worn Device for Multiple Appliances Control Using Static Finger Gestures

An ultimate goal for Ubiquitous Computing is to enable people to interact with the surrounding electrical devices using their habitual body gestures as they communicate with each other. The feasibility of such an idea is demonstrated through a wearable gestural device named Magic Ring (MR), which is an original compact wireless sensing mote in a ring shape that can recognize various finger gestures. A scenario of wireless multiple appliances control is selected as a case study to evaluate the usability of such a gestural interface. Experiments comparing the MR and a Remote Controller (RC) were performed to evaluate the usability. From the results, only with 10 minutes practice, the proposed paradigm of gestural-based control can achieve a performance of completing about six tasks per minute, which is in the same level of the RC-based method.
The influence of marketing communications on the dominance of standards

Literature suggests that in battles between competing standards, ultimately one standard will emerge as the dominant one to the detriment of the others. Various factors and forces have been identified to explain this phenomenon. The factor of marketing communications is one of these. This paper addresses its influence on standards dominance by analyzing 46 different standards from the high tech industry developed by consortia. We found five determinants of marketing communications, each with a direct positive impact on standards dominance . This study is new in applying insights from marketing (communications) literature to standards battles and in empirically showing the impact of marketing communications on standards dominance. Our findings have managerial implications both for standardization consortia and for participants in these consortia.1
Rebuilding Global Fisheries

Fighting for Fisheries In the debate concerning the future of the world's fisheries, some have forecasted complete collapse but others have challenged this view. The protagonists in this debate have now joined forces to present a thorough quantitative review of current trends in world fisheries. Worm et al. (p. 578) evaluate the evidence for a global rebuilding of marine capture fisheries and their supporting ecosystems. Contrasting regions that have been managed for rebuilding with those that have not, reveals trajectories of decline and recovery from individual stocks to species, communities, and large marine ecosystems. The management solutions that have been most successful for rebuilding fisheries and ecosystems, include both large- and small-scale fisheries around the world. Catch restrictions, gear modification, and closed areas are helping to rebuild overexploited marine ecosystems. After a long history of overexploitation, increasing efforts to restore marine ecosystems and rebuild fisheries are under way. Here, we analyze current trends from a fisheries and conservation perspective. In 5 of 10 well-studied ecosystems, the average exploitation rate has recently declined and is now at or below the rate predicted to achieve maximum sustainable yield for seven systems. Yet 63% of assessed fish stocks worldwide still require rebuilding, and even lower exploitation rates are needed to reverse the collapse of vulnerable species. Combined fisheries and conservation objectives can be achieved by merging diverse management actions, including catch restrictions, gear modification, and closed areas, depending on local context. Impacts of international fleets and the lack of alternatives to fishing complicate prospects for rebuilding fisheries in many poorer regions, highlighting the need for a global perspective on rebuilding marine resources.
Using nonspeech sounds to provide navigation cues

This article describes 3 experiments that investigate the possibiity of using structured nonspeech audio messages called earcons to provide navigational cues in a menu hierarchy. A hierarchy of 27 nodes and 4 levels was created with an earcon for each node. Rules were defined for the creation of hierarchical earcons at each node. Participants had to identify their location in the hierarchy by listening to an earcon. Results of the first experiment showed that participants could identify their location with 81.5% accuracy, indicating that earcons were a powerful method of communicating hierarchy information. One proposed use for such navigation cues is in telephone-based interfaces (TBIs) where navigation is a problem. The first experiment did not address the particular problems of earcons in TBIs such as “does the lower quality of sound over the telephone lower recall rates,” “can users remember earcons over a period of time. ” and “what effect does training type have on recall? ” An experiment was conducted and results showed that sound quality did lower the recall of earcons. However; redesign of the earcons overcame this problem with 73% recalled correctly. Participants could still recall earcons at this level after a week had passed. Training type also affected recall. With personal training participants recalled 73% of the earcons, but with purely textual training results were significantly lower. These results show that earcons can provide good navigation cues for TBIs. The final experiment used compound, rather than hierarchical earcons to represent the hierarchy from the first experiment. Results showed that with sounds constructed in this way participants could recall 97% of the earcons. These experiments have developed our general understanding of earcons. A hierarchy three times larger than any previously created was tested, and this was also the first test of the recall of earcons over time.
Mathematical Model of a Proposed Carbon Nanotube Sensor for Ultra Sensitive Acetone Sensing

Abstract: In recent years, MEMS/NEMS (Micro-/Nano Electro Mechanical Systems) sensors have attracted tremendous interest among researchers due to their low cost, quick response time, as well as high sensitivity and selectivity. In this paper, an ultra sensitive acetone sensor based on carbon nanotube (CNT) structure is proposed. In this device, a carbon nanotube is anchored to a substrate in one end, and the other end is free-standing. Piezoelectric activation is used to activate the vibration of such a carbon nanotube cantilever structure. If an acetone molecule is attached to the carbon nanotube, the resonant frequency of the cantilever will be changed for a certain amount. By sensing this certain resonant frequency change, the existence of a single acetone molecule can be detected. A theoretical model is developed to describe the vibration of the carbon nanotube cantilever structure. The resonant frequency change of the cantilever due to attached mass is analyzed. The proposed acetone sensor can achieve extremely high sensitivity in molecular level. It can be potentially used for sensing the trace acetone concentration in human breath, which leads to a quick, convenient, accurate and painless breath diagnosis of diabetics. Such breath diagnosis can greatly reduce the risk of blood-transmitted diseases in the traditional blood testing of diabetic’s diagnosis.
Clinical Relevance of Nontuberculous Mycobacteria Isolated from Sputum in a Gold Mining Workforce in South Africa: An Observational, Clinical Study

Background. The clinical relevance of nontuberculous mycobacteria (NTM), detected by liquid more than solid culture in sputum specimens from a South African mining workforce, is uncertain. We aimed to describe the current spectrum and relevance of NTM in this population. Methods. An observational study including individuals with sputum NTM isolates, recruited at workforce tuberculosis screening and routine clinics. Symptom questionnaires were administered at the time of sputum collection and clinical records and chest radiographs reviewed retrospectively. Results. Of 232 individuals included (228 (98%) male, median age 44 years), M. gordonae (60 individuals), M. kansasii (50), and M. avium complex (MAC: 38) were the commonest species. Of 38 MAC isolates, only 2 (5.3%) were from smear-positive sputum specimens and 30/38 grew in liquid but not solid culture. MAC was especially prevalent among symptomatic, HIV-positive individuals. HIV prevalence was high: 57/74 (77%) among those tested. No differences were found in probability of death or medical separation by NTM species. Conclusions. M. gordonae, M. kansasii, and MAC were the commonest NTM among miners with suspected tuberculosis, with most MAC from smear-negative specimens in liquid culture only. HIV testing and identification of key pathogenic NTM in this setting are essential to ensure optimal treatment.
Piezoelectric performance enhancement of ZnO flexible nanogenerator by a CuO–ZnO p–n junction formation

The piezoelectric potential screening by large excess electrons in nominally undoped ZnO has limited the energy conversion efficiency of the ZnO nanogenerators (NGs). In this study, we report a simple and effective approach to enhance the piezoelectric output performance of the ZnO NGs by forming a CuO–ZnO heterostructure. By depositing a ZnO thin film on the pre-deposited CuO thin film, which forms a p–n junction, excess electrons in ZnO can be effectively reduced. Thus, the piezoelectric potential generated in ZnO by an applied force can be less affected. Using this approach, we obtained an output voltage up to ∼7.5 V and a maximum current of 4.5 μA cm−2 measured under the forward connection, which is a 7-fold higher output voltage and an approximately one order of magnitude higher current density by comparison to the ZnO NGs without a CuO layer. Our results clearly demonstrate the effectiveness of a CuO–ZnO heterostructure for realizing high performance flexible energy harvesting devices.
Comprehensive Utilization Research Progress of a High Mg Phosphate Tailings in China

A high Mg phosphate tailings comprehensive utilization research is essentially leaching to remove the magnesium and phosphorus in it and eventually made containing magnesium and phosphorus or other nutrients compound fertilizer. Phosphate tailings utilization in China were introduced, focused on a high Mg phosphate tailings chemistry, phase composition and reaction characteristics and kinetics of the dissolution results. High Mg phosphate tailings comprehensive utilization to achieve industrialization needs more extensive and deeper researches.
A New Method of Activated Carbon Loading MnO2 to Formaldehyde Degradation

The major indoor air pollution-formaldehyde has been a serious threat to our lives to our lives, and accordingly the formaldehyde degradation has turned into a concerned issue of public. This paper has based on a number of degradation methods and combined the adsorption effect of activated carbon with the catalytic effect of MnO2 to remove formaldehyde. The results show that the Nano-MnO2 particles loaded the surface of activated carbon particles possesses smaller sizes, better dispersion and no agglomeration, and consequently the AC/MnO2 compounds degraded formaldehyde effectively.
Automated 3-D reconstruction of the surface of live early-stage amphibian embryos

Although three-dimensional (3-D) reconstructions of the surfaces of live embryos are vital to understanding embryo development, morphogenetic tissue movements and other factors have prevented the automation of this task. Here, we report an integrated set of software algorithms that overcome these challenges, making it possible to completely automate the reconstruction of embryo surfaces and other textured surfaces from multiview images. The process involves: 1) building accurate point correspondences using a robust deformable template block matching algorithm; 2) removing outliers using fundamental matrix calculations in conjunction with a RANSAC algorithm; 3) generating 3-D point clouds using a bundle adjustment algorithm that includes camera position and distortion corrections; 4) meshing the point clouds into triangulated surfaces using a Tight Cocone algorithm that produces water tight models; 5) refining surfaces using midpoint insertion and Laplacian smoothing algorithms; and 6) repeating these steps until a measure of convergence G, the rms difference between successive reconstructions, is below a specified threshold. Reconstructions were made of 2.2-mm diameter, neurulation-stage axolotl (amphibian) embryos using 44 multiview images collected with a robotic microscope. A typical final model (sixth iteration) contained 3787 points and 7562 triangles and had an error measure of G=5.9 /spl mu/m.
Quantitative Horizon Scanning for Mitigating Technological Surprise: Detecting the Potential for Collaboration at the Interface

‘The identification of potential breakthroughs before they happen’ is a vague data analysis problem and ‘the scientific literature’ is a massive, complex dataset. Hence QHS for MTS might seem to be prototypical of the data miner's lament: ‘Here's some data we have… can you find something interesting? ’ Nonetheless, the problem is real and important, and we develop an innovative statistical approach thereto—not a final etched‐in‐stone approach, but perhaps the first complete quantitative methodology explicitly addressing QHS for MTS. © 2012 Wiley Periodicals, Inc. Statistical Analysis and Data Mining5: 178–186, 2012
Service-Oriented Computing: a Research Roadmap

Service-Oriented Computing (SOC) is a new computing paradigm that utilizes services as the basic constructs to support the development of rapid, low-cost and easy composition of distributed applications even in heterogeneous environments. The promise of Service-Oriented Computing is a world of cooperating services where application components are assembled with little effort into a network of services that can be loosely coupled to create flexible dynamic business processes and agile applications that may span organizations and computing platforms. The subject of Service-Oriented Computing is vast and enormously complex, spanning many concepts and technologies that find their origins in diverse disciplines that are woven together in an intricate manner. In addition, there is a need to merge technology with an understanding of business processes and organizational structures, a combination of recognizing an enterprise's pain points and the potential solutions that can be applied to correct them. The materi.