Miracle-dz/UniFAR-FTUs huggingface dataset:
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2)

We report on a female patient with early infantile epileptic encephalopathy and severe psychomotor disability possessing a de novo balanced translocation t(1;9)(q32;q13). The patient showed clonic convulsions of extremities 2 days after birth. Electroencephalogram (EEG) transiently showed atypical suppression‐burst pattern. The seizures evolved to brief tonic spasms, and hypsarrhythmia on EEG was noticed at age of 5 months, indicating the transition to West syndrome. By using fluorescent in situ hybridization (FISH), southern hybridization, and inverse PCR, the translocation breakpoints were successfully determined at the nucleotide level. The 1q32.1 breakpoint was located within a segmental duplication and disrupted the gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2). The 9q13 breakpoint was suggested to reside in the heterochromatin region. Srgap2 has been shown to be specifically expressed in developing brain of rodents, negatively regulate neuronal migration and induce neurite outgrowth and branching. Thus, SRGAP2 is very likely to play a role in the developing human brain. This is a first report of the SRGAP2 abnormality associated with early infantile epileptic encephalopathy. © 2011 Wiley Periodicals, Inc.
Moduli for testing implementations of the RSA cryptosystem

Comprehensive testing of any implementation of the RSA cryptosystem requires the use of a number of moduli with specific properties. It is shown how to generate a sufficient variety of these to enable testing which will justify high confidence in the correctness of both the design and the operation of hardware implementations. The tests avoid the necessity of another implementation for comparison. Many of these moduli are also suitable for testing software implementations. Furthermore, the methods apply equally well to other similar modular arithmetic based cryptosystems which use exponentiation, such as Diffie-Helman key exchange.
Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by inhibiting glycogen synthesis and whether they are pathogenic remain uncertain. We genetically eliminated brain glycogen synthesis in LD mice. This resulted in long‐term prevention of LB formation, neurodegeneration, and seizure susceptibility. This study establishes that glycogen synthesis is requisite for LB formation and that LBs are pathogenic. It opens a therapeutic window for potential treatments in LD with known and future small molecule inhibitors of glycogen synthesis. Ann Neurol 2013;74:297–300
Evolution of rDNA in Nicotiana allopolyploids: a potential link between rDNA homogenization and epigenetics.

BACKGROUND The evolution and biology of rDNA have interested biologists for many years, in part, because of two intriguing processes: (1) nucleolar dominance and (2) sequence homogenization. We review patterns of evolution in rDNA in the angiosperm genus Nicotiana to determine consequences of allopolyploidy on these processes. SCOPE Allopolyploid species of Nicotiana are ideal for studying rDNA evolution because phylogenetic reconstruction of DNA sequences has revealed patterns of species divergence and their parents. From these studies we also know that polyploids formed over widely different timeframes (thousands to millions of years), enabling comparative and temporal studies of rDNA structure, activity and chromosomal distribution. In addition studies on synthetic polyploids enable the consequences of de novo polyploidy on rDNA activity to be determined. CONCLUSIONS We propose that rDNA epigenetic expression patterns established even in F(1) hybrids have a material influence on the likely patterns of divergence of rDNA. It is the active rDNA units that are vulnerable to homogenization, which probably acts to reduce mutational load across the active array. Those rDNA units that are epigenetically silenced may be less vulnerable to sequence homogenization. Selection cannot act on these silenced genes, and they are likely to accumulate mutations and eventually be eliminated from the genome. It is likely that whole silenced arrays will be deleted in polyploids of 1 million years of age and older.
To Six Sigma : A Metric And A Methodology

Recent advancement in the manufacturing techniques and increased demand of quality products necessitate the use of error reduction techniques. Six sigma developed as such error reduction technique that broaden the limits of quality in order to reduce defects up to 3.4 million per opportunities. Origin of six sigma by Motorola industry proven as the quality assurance technique and validated over many years. Present exertion is made to lime light the importance and need of the philosophy of six sigma so as to reduce the defects in the manufacturing industries. Work represents the importance of six sigma as well methodology used for implementation and the potential benefits by using six sigma.
An outage-based fuzzy call admission control for WCDMA systems using multiuser detection

Multiuser detection (MUD) can increase the system capacity. Wideband code division multiple access (WCDMA) systems adopt this new technology, but the capacity limitation still exists due to other cells' multiple access interference (MAI). We propose a fuzzy call admission control (FCAC) for WCDMA using MUD with successive interference cancellation (SIC). The FCAC considers both intra-cell and inter-cell MAI, and it is designed to maximize the benefit of MUD. Simulation results show that the FCAC with MUD can provide more accurate management of system resource than FCAC with RAKE receiver and SIR-based CAC with MUD in WCDMA systems.
CMAssist: A RoboCup@Home Team

CMAssist is a new effort in our lab, the CORAL research group, to study the research issues surrounding human-robot interaction in unmodified indoor home and office environments. Our focus is on methods for interaction between the human and the robot that are similar to natural human-human interactions. In 2006, we placed 2nd out of 11 teams in the first ever RoboCup@Home international human robot competition competition where we have demonstrated our initial
Bayesian fault identification of multistage processes

Multistage process fault identification have received much attention recently. In this article, we focus on identifying faults in multistage processes that affect the process mean vector. The new method utilizes Bayesian theory and evaluates the posterior probability of each possible fault scenarios. The scenario associated with the largest posterior probability is identified. Numerical analysis proves that the new method has satisfactory diagnosis power and accuracy.
VAMP 2007 Universes for Race Safety

Race conditions occur when two incorrectly synchronised threads simultaneously access the same object. Static type systems have been suggested to prevent them. Typically, they use annotations to determine the relationship between an object and its “guard” (another object), and to guarantee that the guard has been locked before the object is accessed. The object-guard relationship thus forms a tree similar to an ownership type hierarchy. Universe types are a simple form of ownership types. We explore the use of universe types for static identification of race conditions. We use a small, Java-like language with universe types and concurrency primitives. We give a type system that enforces synchronisation for all object accesses, and prove that race conditions cannot occur during execution of a type correct program. We support references to objects whose ownership domain is unknown. Unlike previous work, we do so without compromising the synchronisation strategy used where the ownership domain of such objects is fully known. We develop a novel technique for dealing with non-final (i.e. mutable) paths to objects of unknown ownership domain using effects.
A Framework for Distributed Human Tracking

Today, more than ever, monitoring and surveillance systems play an important role in many aspects of our lives. Technology plays a vital role in our efforts to create, store and analyze vast amounts of data for both security and commercial purposes. In this paper, we propose an application which combines research performed in computer networks, multimedia databases and computer vision. We consider the problem where a number of networks are interconnected. Each of the individual nodes (networks) are collecting, processing and storing data from several sensors (cameras). Specifically, we emphasize on how the data (images) are processed by the individual nodes and how the information is transmitted, so that queries involving multiple nodes can be answered. During this process, we also identify several challenges related to sharing voluminous content provided by visual surveillance devices.
Nasal administration of retinal antigens suppresses the inflammatory response in experimental allergic uveoretmitis

Current immunotherapy of posterior uveitis is non-specific and limited by drug toxicity and unpredictable relapses on therapy. Alternative modes of therapy being investigated using the rat model of experimental autoimmune uveoretinitis (EAU) have included the induction of tolerance with oral administration of milligram quantities of retinal antigens. In this preliminary report we demonstrate that tolerance to retinal antigens can be induced via the upper respiratory tract with microgram doses of antigen, preventing subsequent induction of EAU. (BrJ Ophthalmol 1993; 77: 171-175) Department of Ophthalmology A D Dick Y F Cheng J Liversidge
Effects of Thymol and Carvacrol, Constituents of Thymus vulgaris L. Essential Oil, on the Inflammatory Response

Thyme (Thymus vulgaris L., Lamiaceae) is an aromatic and medicinal plant that has been used in folk medicine, phytopharmaceutical preparations, food preservatives, and as an aromatic ingredient. The effect of Thymus vulgaris essential oil (TEO) and its isolated constituents thymol and cavacrol (CVL) were studied in the following experimental models: ear edema, carrageenan-induced pleurisy, and chemotaxis in vitro. In the pleurisy model, TEO, CVL, and thymol significantly inhibited inflammatory edema. However, only TEO and CVL inhibited leukocyte migration. In the in vitro chemotaxis experiment, CVL inhibited leukocyte migration, whereas thymol exerted a potent chemoattractant effect. In the ear edema model, CVL (10 mg/ear), applied topically, reduced edema formation, exerting a topical anti-inflammatory effect. Thymol did not reduce edema formation but rather presented an irritative response, probably dependent on histamine and prostanoid release. Our data suggest that the antiinflammatory effects of TEO and CVL are attributable to the inhibition of inflammatory edema and leukocyte migration.
Predicting Systolic Blood Pressure Using Machine Learning

In this paper, a new study based on machine learning technique, specifically artificial neural network, is investigated to predict the systolic blood pressure by correlated variables (BMI, age, exercise, alcohol, smoke level etc.). The raw data are split into two parts, 80% for training the machine and the remaining 20% for testing the performance. Two neural network algorithms, back-propagation neural network and radial basis function network, are used to construct and validate the prediction system. Based on a database with 498 people, the probabilities of the absolute difference between the measured and predicted value of systolic blood pressure under 10mm Hg are 51.9% for men and 52.5% for women using the back-propagation neural network With the same input variables and network status, the corresponding results based on the radial basis function network are 51.8% and 49.9% for men and women respectively. This novel method of predicting systolic blood pressure contributes to giving early warnings to young and middle-aged people who may not take regular blood pressure measurements. Also, as it is known an isolated blood pressure measurement is sometimes not very accurate due to the daily fluctuation, our predictor can provide another reference value to the medical staff. Our experimental result shows that artificial neural networks are suitable for modeling and predicting systolic blood pressure.
A potentially hazardous interaction between erythromycin and midazolam.

Interaction between erythromycin and midazolam was investigated in two double-blind, randomized, crossover studies. In the first study, 12 healthy volunteers were given 500 mg erythromycin three times a day or placebo for 1 week. On the sixth day, the subjects ingested 15 mg midazolam. In the second study, midazolam (0.05 mg/kg) was given intravenously to six of the same subjects, after similar pretreatments. Plasma samples were collected, and psychomotor performance was measured. Erythromycin increased the area under the midazolam concentration-time curve after oral intake more than four times (p < 0.001) and reduced clearance of intravenously administered midazolam by 54% (p < 0.05). In psychomotor tests (e.g., saccadic eye movements), the interaction between erythromycin and orally administered midazolam was statistically significant (p < 0.05) from 15 minutes to 6 hours. Metabolism of both erythromycin and midazolam by the same cytochrome P450IIIA isozyme may explain the observed pharmacokinetic interaction. Prescription of midazolam for patients receiving erythromycin should be avoided or the dose of midazolam should be reduced by 50% to 75%.
Timing Synchronization with Turbo Codes on AWGN Chan- nels

This paper presents the behaviour of a turbo coding scheme when the symbol timing is not perfectly known. The algorithm for timing synchronization together with the theoretical Cramer Rao bound and the performance of an NDA ML synchronizer are presented. It is shown that synchronization can be achieved using the soft bit outputs of the turbo decoder without the need of using complex separate synchronizers prior to feeding the signal to the turbo decoder.
Hypercalcemia due to endogenous overproduction of active vitamin D in identical twins with cat-scratch disease.

CONTEXT The extrarenal synthesis of active vitamin D sterols has a central causative role in the hypercalcemia associated with various granulomatous diseases. OBJECTIVE To study the calcium metabolism in patients with cat-scratch disease who have hypercalcemia. DESIGN Case report. SETTING University hospital in Barcelona, Spain. PATIENTS Two identical twins who developed asymptomatic hypercalcemia during the acute phase of cat-scratch disease. MAIN OUTCOME MEASURES Serial measures of calcium homeostasis and metabolism over a 2-month period. RESULTS On admission and 6 and 7 days later, both patients were found to have increased levels of serum and urinary calcium, serum phosphate, and serum 1,25-dihydroxyvitamin D [1,25(OH)2D], whereas they had normal values of serum 25-hydroxyvitamin D and urinary cyclic adenosine monophosphate and decreased serum concentrations of intact parathyroid hormone. Sixteen and 20 days after admission, these abnormalities had resolved without treatment. A direct correlation was observed between the serum 1,25(OH)2D levels and both the serum and 24-hour urinary calcium concentrations. Also, the concentrations of calcium and 1,25(OH)2D paralleled the clinical activity of the infectious disease over the period these parameters were measured. CONCLUSIONS Our cases provide evidence that cat-scratch disease can produce hypercalcemia through the unregulated production of the metabolite 1,25(OH)2D. Cat-scratch disease should be added to the list of granuloma-forming diseases that are responsible for 1,25(OH)2D-mediated hypercalcemia.
Effects of Dietary Isoflavone Aglycones on the Reproductive Tract of Male and Female Mice

We assessed the effects of dietary consumption of soy isoflavone aglycones on the reproductive tract of sexually mature male and female mice. Isoflavone concentrates with a ratio of 10:1, 2:1 or 1:10 genistein:daidzein (G:D) were added to provide 120 mg total isoflavones/1800 Calories (approximately 40 mg/kg body weight) to diets having either casein/lactalbumin or soy protein isolate as the source of protein. After 16 weeks, mice were necropsied and gross and histopathologic assessments of uterus, vagina, testes and accessory sex glands were completed. Effects of the 10G:1D isoflavone concentrates were absent or minimal in females but in males included atrophy of accessory sex glands. In contrast, the 2G:1D and 1G:10D concentrates caused dramatic estrogenic effects in both male and female mice. Effects in females included endometritis and effects typical of estrogenic stimulation (i.e., uterine enlargement, keratinization of vaginal epithelium, increased height of endometrial surface epithelial cells, and uterine squamous metaplasia). Effects in males included reduced plasma testosterone concentrations, atrophy of seminiferous epithelium, atrophy of accessory sex glands, and squamous metaplasia of seminal vesicles. Some effects varied with protein source. We conclude that a diet containing approximately 40 mg/kg soy isoflavone aglycones with a genistein:daidzein ratio of 2:1 or less has marked estrogenic effects on the reproductive system of male and female mice.
Community Systems Research at Yahoo! Community Systems Group

The web and its continued evolution present unprecedented opportunities for database researchers and practitioners to deliver unique user experiences that are not possible traditionally, e.g., mass collaborations through (automatically) established online communities and exploration of large scale structured information. Along with these opportunities, however, come signiﬁcant challenges. The challenges are two-fold: systems , the infrastructures that allow us to deliver information at scale; and community , the applications that deliver the next generation of web experiences centered around people and social networks. In this paper, we describe the ongoing research eﬀorts within the Community Systems group here at Yahoo! Research to address these challenges.
Emerging role of CCN family proteins in tumorigenesis and cancer metastasis (Review)

The CCN family of proteins comprises the members CCN1, CCN2, CCN3, CCN4, CCN5 and CCN6. They share four evolutionarily conserved functional domains, and usually interact with various cytokines to elicit different biological functions including cell proliferation, adhesion, invasion, migration, embryonic development, angiogenesis, wound healing, fibrosis and inflammation through a variety of signalling pathways. In the past two decades, emerging functions for the CCN proteins (CCNs) have been identified in various types of cancer. Perturbed expression of CCNs has been observed in a variety of malignancies. The aberrant expression of certain CCNs is associated with disease progression and poor prognosis. Insight into the detailed mechanisms involved in CCN-mediated regulation may be useful in understanding their roles and functions in tumorigenesis and cancer metastasis. In this review, we briefly introduced the functions of CCNs, especially in cancer.
Diffraction-limited 76mas speckle masking observations of the core of NGC 1068 with the SAO 6m telescope ?

We present the rst K-band bispectrum speckle in- terferometry of NGC1068 with an angular resolution of 76mas ( 5:5pc). This angular resolution allows us to attribute the measured flux to only one of the nuclear sources seen at ra- dio wavelengths. The observed decreasing visibility function suggests that the dominant central core is probably not an un- resolved point source, but slightly resolved with a FWHM di- ameter of 30mas 2pc for an assumed Gaussian intensity distribution. This 30mas object is possibly the nuclear torus and/or a scattering halo. We discuss different contributions to the observed K band flux. Between 5GHz and the K-band the spectrum of this com- ponent is close to a 1=3 proportionality. In addition to the stan- dard interpretation of a hot dust torus surrounding the nucleus of NGC1068, one cannot exclude the possibility that a sizeable fraction of the nuclearflux reaches us via a scattering halo. This then would allow us to determine physical parameters of the nuclear source.
Filtered backprojection algorithm can outperform iterative maximum likelihood expectation‐maximization algorithm

The iterative maximum‐likelihood expectation‐maximization (ML‐EM) algorithm is an excellent algorithm for image reconstruction and usually provides better images than the filtered backprojection (FBP) algorithm. However, a windowed FBP algorithm can outperform the ML‐EM in certain occasions, when the least‐squared difference from the true image, that is, the least‐squared error (LSE), is used as the comparison criterion. Computer simulations were carried out for the two algorithms. For a given data set the best reconstruction (compared to the true image) from each algorithm was first obtained, and the two reconstructions are compared. The stopping iteration number of the ML‐EM algorithm and the parameters of the windowed FBP algorithm were determined, so that they produced an image that was closest to the true image. However, to use the LSE criterion to compare algorithms, one must know the true image. How to select the optimal parameters when the true image is unknown is a practical open problem. For noisy Poisson projections, computer simulation results indicate that the ML‐EM images are better than the regular FBP images, and the windowed FBP algorithm images are better than the ML‐EM images. For the noiseless projections, the FBP algorithms outperform the ML‐EM algorithm. The computer simulations reveal that the windowed FBP algorithm can provide a reconstruction that is closer to the true image than the ML‐EM algorithm. © 2012 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 22, 114–120, 2012
Pyrolysis- GC/MS Determination of Biomedical Components of the Pyrolyzate from Fruit Hull and Kernel Hull of Camellia Oleifera Fruit

The fruit hull and kernel hull of Camellia oleifera are still underutilized and hence abandoned to pollute environment. Therefore, Pyrolysis- GC/MS was used to analyze the top value- added biomedical components from the fruit hull and kernel hull of C. oleifera fruit. After treated with freeze-drying, the fresh fruit hull and kernel hull were pyrolyzed in Helium atmosphere at 590degC respectively, then the two pyrolyzates were analyzed by online linked GC/MS. Relative content of each component was determined by area normalization. 48 compounds representing 98.29 % of fruit hull pyrolyzate were identified from 61 peaks, and the main constituents are acetic acid (18.79%), 2- propanone,1-(1-methylethoxy)- (8.88%), acetic acid, methyl ester (9.12%), 2-propanone,l-hydroxy- (5.39%), 2- furancarboxaldehyde (5.37%), cyclobutanol (3.01%), etc. 38 compounds representing 97.28 % of kernel hull pyrolyzate were identified from 47 peaks, and the main constituents are ethyne,fluoro- (21.95%), acetic acid (23.53%), butane (11.85%), acetaldehyde,hydroxy- (5.63%), 2-propanone,1-hydroxy- (5.59%), heptadecane,9-octyl- (4.00%), propane (3.54%), nonacosane (3.39%), heptadecane (2.62%), etc. As the first report here, the Pyrolysis- GC/MS result showed that the pyrolyzates of fruit hull and kernel hull of C. oleifera contain abundant components of rare medicinal materials and byproducts which can be developed into two value-added materials of high-grade cosmetic, bioenergy, and industrial chemical and solvent.