Miracle-dz/UniFAR-FTUs huggingface dataset:
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

OBJECTIVE To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95% carry a mutation in 1 of 3 mitochondrial DNA-encoded complex I genes. The complete mitochondrial DNA was screened for mutations in a patient with LHON without 1 of these 3 primary mutations. The heteroplasmy level and biochemical consequence of the mutation were determined. RESULTS A pathogenic 3697G>A/ND1 mutation was detected and seemed associated with an isolated complex I deficiency. This family has similar clinical characteristics as the previously described families with LHON and dystonia with an ND6 mutation. CONCLUSIONS The 3697G>A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family. This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression.
Pararenal Aortic Aneurysms: The Future of Open Repair

Recent developments in stent-graft technology have had a dramatic impact on the management of abdominal aortic aneurysms (AAAs). At this time, endovascular repair is feasible in approximately 60% of all infrarenal AAAs [1]. The most important factor in determining the feasibility of endovascular repair is the anatomy of the proximal aortic implantation site. The most common contraindication to the deployment of an endovascular stent-graft device for AAA repair is the lack on an adequate proximal implantation site due to aneurysmal degeneration of the pararenal aorta. One implication of the widespread use of stentgrafts for the repair of AAAs is that an increasing proportion of patients undergoing standard ? J? en repair will have juxtarenal aneurysms-requmng suprarenal crossclamp-suprarenal aneurysms, requiring renal artery reconstruction, or juxtarenal aneurysms with associated renal artery occlusive disease requiring treatment. Pararenal aortic aneurysm repair is characterized by more extensive mobilization of the viscera to provide extended proximal exposure of the aorta, a more proximal level of aortic crossclamping, and an obligatory period of renal ischemia. As a result of these factors, pararenal aortic aneurysm repair is associated with a higher risk of death or complications than infrarenal aortic repair due to its greater physiologic and cardiac stresses, as well as an increased risk of loss of renal function due to the obligatory period of renal ischemia. Although there have been many large referral based [2] and population based [3-6] studies that established the outcome of standard open operative repair of infrarenal aortic aneurysms, there is little
Improved model predictive current control of cascaded H-bridge multilevel converter

Model predictive control has become a promising control technology in power converter, because of the good dynamic response and accurate current tracking capability. This paper mainly analyzes and verifies the model predictive current control of a three-phase cascaded H-bridge multilevel converter. In order to solve shortcomings of the large amount of computation and difficult to control, an improved method is presented to reduce computation considering adjacent levels. And the system performance is not affected. The control algorithm is validated by the simulation results of a seven-level inverter.
Supporting Decision Making and Action Selection under Time Pressure and Uncertainty: The Case of In-Flight Icing

Operators in high-risk domains such as aviation often need to make decisions under time pressure and uncertainty. One way to support them in this task is through the introduction of decision support systems (DSSs). The present study examined the effectiveness of two different DSS implementations: status and command displays. Twenty-seven pilots (9 pilots each in a baseline, status, and command group) flew 20 simulated approaches involving icing encounters. Accuracy of the decision aid (a smart icing system), familiarity with the icing condition, timing of icing onset, and autopilot usage were varied within subjects. Accurate information from either decision aid led to improved handling of the icing encounter. However, when inaccurate information was presented, performance dropped below that of the baseline condition. The cost of inaccurate information was particularly high for command displays and in the case of unfamiliar icing conditions. Our findings suggest that unless perfect reliability of a decision aid can be assumed, status displays may be preferable to command displays in high-risk domains (e.g., space flight, medicine, and process control), as the former yield more robust performance benefits and appear less vulnerable to automation biases.
Polymorphic AES Encryption Implementation

This paper presents a hybrid hardware-software implementation of the AES encryption algorithm on the MOLEN polymorphic processor [1]. In order to combine the advantages of both the software and the hardware implementations, the application code has been divided into two computational approaches, software and hardware. Only the main ciphering function, the more computational demanding component, has been implemented in hardware in a Virtex II pro-20. The AES encryption core occupies about 20% of the available slices and utilizes 12 BRAMs. The proposed design is capable of running at a frequency above 100MHz. Even in the worst case scenario, where only one 128-bit block is encrypted, this implementation has a speedup of 43, compared to a pure software implementation running on a PowerPC at 300MHz. When encrypting a file of 16 kbits, the overhead of passing the data into the hardware (including the 1408 bits of the expanded key) is much less significant, thus a speedup of 569 times is obtained for the proposed design compared to the pure software implementation. This speedup corresponds to an increase on the encryption rate from 1.85 Mbits/s, for pure software, to 1057 Mbits/s in the polymorphic processor.
Valuation of Exotic Options under Shortselling Constraints

Options with discontinuous payoffs are generally traded above their theoretical Black–Scholes prices because of the hedging difficulties created by their large delta and gamma values. A theoretical method for pricing these options is to constrain the hedging portfolio and incorporate this constraint into the pricing by computing the smallest initial capital which permits super-replication of the option. We develop this idea for exotic options, in which case the pricing problem becomes one of stochastic control. Our motivating example is a call which knocks out in the money, and explicit formulas for this and other instruments are provided.
Characterization of Barrier Properties and Inducible VEGF Expression of Several Types of Retinal Pigment Epithelium in Medium-Term Culture

Purpose: To investigate and compare the characteristics of four different types of retinal pigment epithelium (RPE) cells cultured for 2 to 5 weeks to provide guidance when choosing RPE cells for experimentation. Methods: Human cell lines ARPE-19 (ARPE) and D407, primary RPE cells from C57Bl/6 mouse (mRPE), and primary human fetal RPE (hfRPE) cells were grown in respective media previously reported to be optimal for each cell type. Two methods to obtain hfRPE were used: one isolated outside and transported to our laboratory, and one isolated primarily within our laboratory from donor human fetal eyes. Barrier function was determined by transepithelial electrical resistance (TER) and permeability and structure by localization of Na+,K+-ATPase α-1, ZO-1, and actin. VEGF expression, determined by real-time polymerase chain reaction (PCR) for mRNA and ELISA for protein, was determined after exposure to 24 h of 1% oxygen. Madin-Darby canine kidney (MDCK) cells were compared as a non-RPE epithelial cell line. Results: ARPE at passage 15, but not passage 32, maintained steady low TER measurements (up to 30 ohms*cm2) despite forming a monolayer with apical Na+,K+-ATPase α-1 labeling after 35 days. mRPE developed and maintained a TER of 30 ohms*cm2 for 2 weeks but did not localize ATPase. hfRPE showed two phenotypes. hfRPE isolated remotely and sent to us appeared more mesenchymal and undifferentiated (hfRPE-U) and had a slow but steady increase in measured TER to approximately 25 ohms*cm2, whereas hfRPE isolated from donor eyes in our laboratory showed well-differentiated monolayers (hfRPE-D) with TER measurements > 500 ohms*cm2 within 1 month of culture. TER measurements reflected permeability determined by the measurement of paracellular movement of sodium fluorescein. All human RPE cell types showed expression of VEGF mRNA and protein, and expression was upregulated by hypoxia in hfRPE and D407, but not in ARPE, which had constitutively high expression. ARPE expressed high levels of VEGF protein in media and cell lysates (777.2; 54.4 pg/mg protein, respectively), whereas hfRPE and D407 produced significantly less (media: 5.7 [p = 0.001], 323.6 pg/mg protein [p = 0.01]; lysate: 0 [p < 0.001], 3.5 pg/mg protein [p < 0.001], respectively). Conclusions: Primary RPE cells and those from cell lines had different responses to medium-term culture or hypoxic stress. Primary isolation of hfRPE cells with careful control of culture conditions to assure adequate differentiation is recommended when using this cell as an example of a highly polarized epithelium. For disease, use of RPE cells that do not require long-term culture are more efficient and may be more relevant to study certain pathologies.
Location-Based Activity Recognition with Hierarchical Dirichlet Process

We consider the problem of analyzing people's mobility and movement patterns from their location history, gathered by mobile devices. Human mobility traces can be extremely complex and unpredictable, by nature, which makes it hard to construct accurate models of mobility behavior. In this work, we present a novel high-level strategy for mobility data analysis based on Hierarchical Dirichlet process, which is a powerful probabilistic model for clustering grouped data. We evaluate our unsupervised approach on two real-world datasets.
Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13

Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant of the risk for osteoporosis in later life is bone mineral density (BMD) attained during early adulthood. BMD is a complex trait that presumably is influenced by multiple genes. Recent linkage of three Mendelian BMD‐related phenotypes, autosomal dominant high bone mass, autosomal recessive osteoporosis‐pseudoglioma, and autosomal recessive osteopetrosis to chromosome 11q12–13 led us to evaluate this region to determine if the underlying gene(s) could also contribute to variation in BMD in the normal population. We performed a linkage study in a sample of 835 premenopausal Caucasian and African–American sisters to identify genes underlying BMD variation. A maximum multipoint LOD score of 3.50 with femoral neck BMD was obtained near the marker D11S987, in the same chromosomal region as the three Mendelian traits mentioned above. Our results suggest that the gene(s) underlying these Mendelian phenotypes also play a role in determining peak BMD in the normal population and are the first using linkage methods to establish a chromosomal location for a gene important in determining peak BMD. These findings support the hypothesis that a gene responsible for one or more of the rare Mendelian BMD traits linked to chromosome 11q12–13 has an important role in osteoporosis in the general population.
cAMP-Binding Protein Epac Induces Cardiomyocyte Hypertrophy

cAMP is one of the most important second messenger in the heart. The discovery of Epac as a guanine exchange factor (GEF), which is directly activated by cAMP, raises the question of the role of this protein in cardiac cells. Here we show that Epac activation leads to morphological changes and induces expression of cardiac hypertrophic markers. This process is associated with a Ca2+-dependent activation of the small GTPase, Rac. In addition, we found that Epac activates a prohypertrophic signaling pathway, which involves the Ca2+ sensitive phosphatase, calcineurin, and its primary downstream effector, NFAT. Rac is involved in Epac-induced NFAT dependent cardiomyocyte hypertrophy. Blockade of either calcineurin or Rac activity blunts the hypertrophic response elicited by Epac indicating these signaling molecules coordinately regulate cardiac gene expression and cellular growth. Our results thus open new insights into the signaling pathways by which cAMP may mediate its biological effects and identify Epac as a new positive regulator of cardiac growth.
Numerical Remarks on the Estimation of the Option Price

The computation of the European options price in a Black-Scholes market, characterized by the presence of no arbitrage condition, is an important applicative problem. In this paper we are interested in highlighting some numerical issues related to this problem. The proposed procedure is mainly divided into three parts: the test of the lognomality of the risk asset, the estimation of the volatility of the underlying and, finally, the determination of the price. As concerns the first point, we propose the adoption of the the Shapiro-Wilk test, in the second one we suggest to estimate the volatility by the sample standard deviation and in the third point we apply the Black-Scholes formula and we introduce an approximation for a Normal function value by means of a quadrature formula.
ODR Range Using Exponentially Graded Refractive Index Profile of GaAs Based 1 D Photonic Crystal

A one dimensional semiconductor multilayer structure having refractive index profile of exponentially graded material has been proposed. The theoretical result shows that the proposed structure works as an optical mirror within a certain wavelength range (1550 nm). In order to calculate the reflection properties a transfer matrix method (TMM) has been used. This property shows that one dimensional graded photonic crystal structures have widened omnidirectional reflector bandgap.
Two Microcatheter Technique for Embolization of Arteriovenous Fistula with Liquid Embolic Agent

Problem with embolization of arteriovenous fistula (AVF) with liquid embolic agent is its over-penetration into the veins or regurgitation to the proximal feeder without reaching the shunt point. We present a technique that controls the flow of AVF during embolization. Two microcatheter technique consists of positioning one microcatheter close to the AVF for embolization, and with another microcatheter at the proximal feeding artery to control the AVF flow by coiling. Selective angiograms obtained using a distally positioned microcatheter before and after coiling, were compared how much stagnant effect was achieved. Using two microcatheter technique, AVF occlusion was achieved with good penetration of glue to the venous side of the AVF. Its advantage is the ability to push glue into the shunt without causing over-penetration of glue or its reflux along the feeder. Two microcatheter technique was safe and effective in glue embolization of AVF and also expected to be applied with other liquid embolic agent like Onyx.
Experience report: a do-it-yourself high-assurance compiler

Embedded domain-specific languages (EDSLs) are an approach for quickly building new languages while maintaining the advantages of a rich metalanguage. We argue in this experience report that the "EDSL approach" can surprisingly ease the task of building a high-assurance compiler. We do not strive to build a fully formally-verified tool-chain, but take a "do-it-yourself" approach to increase our confidence in compiler-correctness without too much effort. Copilot is an EDSL developed by Galois, Inc. and the National Institute of Aerospace under contract to NASA for the purpose of runtime monitoring of flight-critical avionics. We report our experience in using type-checking, QuickCheck, and model-checking "off-the-shelf" to quickly increase confidence in our EDSL tool-chain.
Making Smart Grids Smarter by Using Machine Learning

The huge amounts of data required by Smart grids operation are impossible to be processed by human operators in a timely manner. New intelligent systems should provide a clear decision regarding the system state. This paper proposes a new methodology based on supervised learning using AdaBoost and CARTs as decision support system for power system state classification. The methodology proves to be time efficient and precise, with low false negative rates. This approach could help in Smart Grids design and deployment, as it could be easily integrated into the existing EMS/SCADA systems.
Measures vs. analytic evaluation of response time of Networked Automation Systems

In this paper, we present a study that deals with response time of Networked Automation Systems (NAS). The main aim is to verify experimentally the validity of an analytic formulation of NAS response time, obtained in our past investigations [12]. To that purpose, we carried out, under different conditions, a lot of measurements on a laboratory facility. Each time, we compared the observed measures to the predicted values. Overall, the study reveals clear agreement between the real observations and the theoretic predictions of our formula. It therefore promotes the formula to be used confidently for NAS response time evaluation while avoiding tedious and onerous experiments.
Codebook prediction: a nonlinear signal modeling paradigm

A nonlinear generalization of the family of autoregressive signal models is introduced. This generalization can be viewed as an autoregressive model with state-varying parameters. For such signals, minimum mean-square error prediction can be reformulated as an interpolation problem. A novel interpretation of the signal as a codebook for its own prediction leads to an interpolation strategy resembling a predictive counterpart to vector quantization. The applicability of this model is then demonstrated empirically for a variety of signals. <<ETX>>
Living with a Kidney Transplant

Research has shown that transplantation improves quality of life for patients with end stage renal disease (ESRD), although it does not return to pre-kidney failure levels. This study used focus groups to explore the experience of living with a transplanted kidney. The data were analysed, using thematic analysis, and the following themes were identified: medicalization; fear; gratitude; and coping. These may necessitate constant vigilance, reduced spontaneity and preoccupation with self-care to maintain the kidney's health; being treated differently from others; pressure not to let themselves and others down; and the urge to increase their knowledge about their condition. It was found that these themes pervade the lives of the recipients and that the psychosocial effects of transplantation are long-lasting.
Quality of Service Issues in Wireless Mesh Networks

In this paper the Quality of Service Issues in Wireless Mesh Networks has been described. Several access points may be put into wireless Ad Hoc networks for people connecting to WWW or other Internet services. This kind of wireless network is called wireless mesh networks (WMNs). Quality of service is largely lacking. For improving the performance of QoS in face of unreliable wireless medium, a new cross layer routing metric called expected transmission efficiency (ETE), which aims to find high throughput and low delay paths. Access points are placed in an wireless mesh network for maximizing cell coverage. However, larger coverage of an AP leads to lower throughput and longer delay in the access link as well as in the relay link. To find the optimal tradeoffs among delay, capacity, and coverage, Routing protocol design is critical to the performance and reliability of wireless mesh networks. Consequently, the overall performance of the network are poor even the total traffic load is far below the system capacity. Packet losses and delay due to interference in a multiple-hop mesh network with limited capacity . The wireless routers in the mesh network implemented. For improving performance of QoS. We can use traffic balancing.
Recovery after high-intensity intermittent exercise in elite soccer players using VEINOPLUS sport technology for blood-flow stimulation.

CONTEXT Electric muscle stimulation has been suggested to enhance recovery after exhaustive exercise by inducing an increase in blood flow to the stimulated area. Previous studies have failed to support this hypothesis. We hypothesized that the lack of effect shown in previous studies could be attributed to the technique or device used. OBJECTIVE To investigate the effectiveness of a recovery intervention using an electric blood-flow stimulator on anaerobic performance and muscle damage in professional soccer players after intermittent, exhaustive exercise. DESIGN Randomized controlled clinical trial. SETTING National Institute of Sport, Expertise, and Performance (INSEP). PATIENTS OR OTHER PARTICIPANTS Twenty-six healthy professional male soccer players. INTERVENTION(S) The athletes performed an intermittent fatiguing exercise followed by a 1-hour recovery period, either passive or using an electric blood-flow stimulator (VEINOPLUS). Participants were randomly assigned to a group before the experiment started. MAIN OUTCOME MEASURES(S) Performances during a 30-second all-out exercise test, maximal vertical countermovement jump, and maximal voluntary contraction of the knee extensor muscles were measured at rest, immediately after the exercise, and 1 hour and 24 hours later. Muscle enzymes indicating muscle damage (creatine kinase, lactate dehydrogenase) and hematologic profiles were analyzed before and 1 hour and 24 hours after the intermittent fatigue exercise. RESULTS The electric-stimulation group had better 30-second all-out performances at 1 hour after exercise (P = .03) in comparison with the passive-recovery group. However, no differences were observed in muscle damage markers, maximal vertical countermovement jump, or maximal voluntary contraction between groups (P > .05). CONCLUSIONS Compared with passive recovery, electric stimulation using this blood-flow stimulator improved anaerobic performance at 1 hour postintervention. No changes in muscle damage markers or maximal voluntary contraction were detected. These responses may be considered beneficial for athletes engaged in sports with successive rounds interspersed with short, passive recovery periods.