Miracle-dz/UniFAR-FTUs huggingface dataset:
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

Sclerosteosis is a rare bone dysplasia characterized by greatly increased bone mass, especially of the long bones and the skull. Patients are tall, show facial asymmetry and often have syndactyly. Clinical complications are due to entrapment of cranial nerves. The disease is thought to be due to loss‐of‐function mutations in the SOST gene. The SOST gene product, sclerostin, is secreted by osteocytes and transported to the bone surface where it inhibits osteoblastic bone formation by antagonizing Wnt signaling. In a small Turkish family with sclerosteosis, we identified a missense mutation (c.499T>C; p.Cys167Arg) in exon 2 of the SOST gene. This type of mutation has not been previously reported and using different functional approaches, we show that it has a devastating effect on the biological function of sclerostin. The affected cysteine is the last cysteine residue of the cystine‐knot motif and loss of this residue leads to retention of the mutant protein in the ER, possibly as a consequence of impaired folding. Together with a significant reduced ability to bind to LRP5 and inhibit Wnt signaling, the p.Cys167Arg mutation leads to a complete loss of function of sclerostin and thus to the characteristic sclerosteosis phenotype. © 2010 Wiley‐Liss, Inc.
Assessing technology use in aphasia

We report a novel and accessible questionnaire designed to examine levels of technology use in adults with severe aphasia and to assess the impact of a co-designed computer-delivered gesture therapy (GeST) on participants' wider technology use. The questionnaire is currently being used in a group study of 30 participants with severe aphasia. Early outcomes indicate that people with severe aphasia are able to use the questionnaire effectively to report levels of technology use. Data from 11 participants suggests low levels of use for many items of everyday technology prior to therapy. Presented work will further examine the effect of GeST therapy on individuals' reported technology-use and also examine correlations between questionnaire outcomes and three other factors: performance on measures of cognition; and the amount and diversity of GeST-use.
Non‐synaptic Localization of the Glutamate Transporter EAACI in Cultured Hippocampal Neurons

It has been postulated for several years that the high affinity neuronal glutamate uptake system plays a role in clearing glutamate from the synaptic cleft. Four different glutamate transporter subtypes are now identified, the major neuronal one being EAAC1. To be a good candidate for the reuptake of glutamate at the synaptic cleft, EAAC1 should be properly located at synapses, either at pre‐ or postsynaptic sites. We have investigated the distribution of EAAC1 in primary cultures of hippocampal neurons, which represent an advantageous model for the study of synaptogenesis and synaptic specializations. We have demonstrated that EAAC1 immunoreactivity is segregated in the somatodendritic compartment of fully differentiated hippocampal neurons, where it is localized in the dendritic shaft and in the spine neck, outside the area facing the active zone. No co‐localization of EAAC1 immunoreactivity with the stainings produced by typical presynaptic and postsynaptic markers was ever observed, indicating that EAAC1 is not to be considered a synaptic protein. Accordingly, the developmental pattern of expression of EAAC1 was found to be different from that of typical synaptic markers. Moreover, EAAC1 was expressed in the somatodendritic compartment of hippocampal neurons already at stages preceding the formation of synaptic contacts, and was also expressed in GABAergic interneurons with identical subcellular distribution. Taken together, these data rule against a possible role for EAAC1 in the clearance of glutamate from within the cleft and in the regulation of its time in the synapse. They suggest an unconventional non‐synaptic function of this high‐affinity glutamate carrier, not restricted to glutamatergic fibres.
A wireless SoC for alimentary canal pH value continuously monitoring

A wireless system-on-chip (SoC) dedicated for detecting the pH value of human alimentary canal is presented in this paper. All the necessary circuit functions for a swallowable miniature pH monitoring device is integrated in this SoC except the electrochemical sensor. The whole chip is composed of four major parts which are analog front end (AFE), power management (PM), digital controller and the RF transceiver. A novel pH sensor interface structure is also proposed in this paper, which can read the pH sensor output precisely. The SoC is fabricated in 0. 18µm CMOS process and occupies 2.0*1.6mm2.
The calmodulin‐dependent protein phosphatase catalytic subunit (calcineurin A) is an essential gene in Aspergillus nidulans.

The gene encoding the homologue of the catalytic subunit of the Ca2+/calmodulin‐regulated protein phosphatase 2B (calcineurin A) has been isolated from Aspergillus nidulans. This gene, cnaA+, is essential in this fungal system. Analysis of growth‐arrested cells following gene disruption by homologous recombination reveals that they are blocked early in the cell cycle. The cnaA+ gene encodes a 2.5 kb mRNA and the deduced protein sequence is highly homologous to the calcineurin A subunit of other species. The mRNA varies in a cell cycle‐dependent manner with maximal levels found early in G1 and considerably before the G1/S boundary. As calmodulin is also essential for A.nidulans cell cycle progression and levels rise before the G1/S boundary, our data suggest that calcineurin may represent a primary target for calmodulin at this cell cycle transition point.
Endoscopic mucosal resection outcomes and prediction of submucosal cancer from advanced colonic mucosal neoplasia.

BACKGROUND & AIMS Large sessile colonic polyps usually are managed surgically, with significant morbidity and potential mortality. There have been few prospective, intention-to-treat, multicenter studies of endoscopic mucosal resection (EMR). We investigated whether endoscopic criteria can predict invasive disease and direct the optimal treatment strategy. METHODS The Australian Colonic Endoscopic (ACE) resection study group conducted a prospective, multicenter, observational study of all patients referred for EMR of sessile colorectal polyps that were 20 mm or greater in size (n=479, mean age, 68.5 y; mean lesion size, 35.6 mm). We analyzed data on lesion characteristics and procedural, clinical, and histologic outcomes. Multiple logistic regression analysis identified independent predictors of EMR efficacy and recurrence of adenoma, based on findings from follow-up colonoscopy examinations. RESULTS Risk factors for submucosal invasion were as follows: Paris classification 0-IIa+c morphology, nongranular surface, and Kudo pit pattern type V. The most commonly observed lesion (0-IIa granular) had a low rate of submucosal invasion (1.4%). EMR was effective at completely removing the polyp in a single session in 89.2% of patients; risk factors for lack of efficacy included a prior attempt at EMR (odds ratio [OR], 3.8; 95% confidence interval, 1.77-7.94; P=.001) and ileocecal valve involvement (OR, 3.4; 95% confidence interval, 1.20-9.52; P=.021). Independent predictors of recurrence after effective EMR were lesion size greater than 40 mm (OR, 4.37; 95% confidence interval, 2.43-7.88; P<.001) and use of argon plasma coagulation (OR, 3.51; 95% confidence interval, 1.69-7.27; P=.0017). There were no deaths from EMR; 83.7% of patients avoided surgery. CONCLUSIONS Large sessile colonic polyps can be managed safely and effectively by endoscopy. Endoscopic assessment identifies lesions at increased risk of containing submucosal cancer. The first EMR is an important determinant of patient outcome-a previous attempt is a significant risk factor for lack of efficacy.
Induction Chemotherapy With Carboplatin–Paclitaxel Followed by Standard Radiotherapy With Concurrent Daily Low-Dose Cisplatin Plus Weekly Paclitaxel for Inoperable Non-Small-Cell Lung Cancer

Both induction chemotherapy and concurrent platinating agents have been shown to improve results of thoracic irradiation in the treatment of locally advanced non-small-cell lung cancer (NSCLC). This phase II study investigated activity and feasibility of a novel chemoradiation regimen, including platinum and paclitaxel, both as induction chemotherapy and concurrently with thoracic radiotherapy. Previously untreated patients with histologically/cytologically proven unresectable stage I–III NSCLC were eligible. Induction chemotherapy consisted of 2 courses of 200 mg/m2 paclitaxel and carboplatin at AUC of 6 mg/mL/min every 3 weeks. From day 43, continuous thoracic irradiation (60 Gy in 30 fractions radiotherapy for 6 weeks) was given concurrently with daily cisplatin at a dose of 5 mg/m2 intravenously and weekly paclitaxel at a dose of 45 mg/m2 for 6 weeks. Fifteen patients were accrued in the first stage of the trial. According to the previous statistical considerations, accrual at the second stage of the study was halted as a result of the achievement an insufficient number of successes. Major toxicity of combined chemoradiation was grade III–IV esophagitis requiring hospitalization for artificial nutrition, which occurred in 58% of patients. Other toxicities included grade II–IV fatigue in 75% of patients and grade I–IV neuromuscular toxicity in 67%. Only 7 patients completed the treatment program as scheduled. Eight patients (53.3%; 95% confidence interval, 26.5–78.7%) had a major response (5 partial response, 3 complete response), 2 patients had disease progression, and 1 was stable at the end of treatment. Four patients died early. With a median follow up of 38 months, the median survival was 12 months. A combined chemoradiation program, including platinum and paclitaxel, appears difficult to deliver at full dose as a result of toxicity, mainly esophagitis. More active and less toxic combined modality treatments need to be developed for inoperable NSCLC.
An Empirical Investigation of Destination Branding: The Case of the City of Rio de Janeiro, Brazil

This paper conducts a study on brand image formation. In this sense, this research was developed to contribute to the tourism sector, and to do so, it had two major aims. The first one was to evaluate if destination branding factors influence the image assessment of a specific tourist destination: the Brazilian city of Rio de Janeiro. The second aim was to estimate if the image of this tourist destination is directly related to loyalty. Therefore, this paper provides a theoretical and an empirical contribution to the theme by using a set of destination branding dimensions to evaluate the image of Rio de Janeiro and to test its influence on destination loyalty. This research follows a quantitative exploratory approach, and in order to reach the designated aims, two research techniques were used: exploratory factor analysis and confirmatory factor analysis. The results confirmed four out of the five hypotheses established a priori in the proposed model. It can be concluded that the structural model is a reliable model.
Quantitative cross-species comparison of GO annotations: advantages and limitations of semantic similarity measure

We highlight the various kinds of difficulties arising when comparing two sets of GO annotations using either the intersection of sets of annotations or semantic similarity measures. We illustrate our approach by comparing the GO annotations of Apolipoprotein A-5 (apoa5) and Apolipoprotein A-1 (apoa1) respectively between human (hsa) and mice (mmu). Apoa5 is involved in similar biological processes in the two species [1], whereas Apoa1 is known to be significantly different [2]. For each gene product, we retrieved the annotations for each species using the GOA database from the EBI. We also retrieved the evidence codes and modifiers of these annotations in order to take negation into account [3, 4]. The Gene Ontology provided the hierarchy between the annotations. We used the daily version.
Multimodal communication in chimpanzees

A fundamental characteristic of human language is multimodality. In other words, humans use multiple signaling channels concurrently when communicating with one another. For example, people frequently produce manual gestures while speaking, and the words a person perceives are impacted by visual information. For this study, we hypothesized that similar to the way that humans regularly couple their spoken utterances with gestures and facial expressions, chimpanzees regularly produce vocalizations in conjunction with other communicative signals. To test this hypothesis, data were collected from 101 captive chimpanzees living in mixed‐sex social groupings of seven to twelve individuals. A total of 2,869 vocal events were collected. The data indicate that approximately 50% of the vocal events were produced in conjunction with another communicative modality. In addition, approximately 68% were directed to a specific individual, and these directed vocalizations were more likely to include a signal from another communicative modality than were vocalizations that were not directed to a specific individual. These results suggest that, like humans, chimpanzees often pair their vocalizations with signals from other communicative modalities. In addition, chimpanzees appear to use their communicative signals strategically to meet specific socio‐communicative ends, providing support for the growing literature that indicates that at least some chimpanzee vocal signaling is intentional. Am. J. Primatol. 77:1143–1148, 2015. © 2015 Wiley Periodicals, Inc.
Measuring Cognitive Processes Underlying Picture Naming in Alzheimer's and Cerebrovascular Dementia: A General Processing Tree Approach

Existing data from the Boston Naming Test were analyzed using standard statistical methods and with a General Processing Tree (GPT) model in an attempt to differentiate between patients with Alzheimer's Disease (AD) and Cerebrovascular dementia (CVD), matched for severity, and age-matched healthy controls. The GPT approach enables the estimation of parameters reflecting underlying cognitive processes (e.g., perceptual analysis, lexical access) based on categorical data. Compared to traditional analyses of proportion correct and of errors, the analysis with the GPT model was more sensitive in detecting differences between patient groups, as well as the source of these differences. Among the differences were two, evident in a comparison between very mild AD and very mild CVD patients: standard analyses did not reveal a significant difference between these groups; but the GPT analysis revealed that the CVD patients had significantly higher estimates than the AD patients on parameters reflecting lexical access and phonological realization.
Analysis of industry risk premium with MVS three dimensions vector factor model

Abstract It is very important to identify deviation mechanism of price volatility of an industry asset and the affecting factors, and it is important to give the reasonable explanation and measurement to the abnormality of price volatility of the industry asset. This paper adopts heterogeneous panel and exploratory factor analysis methods, measuring industry risk by industry risk premium index, and constructs an industry MVS three dimensions vector factor model to analyze the factors consistent and affecting extent to industry risk. Furthermore, this paper analyzes simultaneously the linkage effect and working mechanism of multi-industries risks and gives an empirical research to determinants mechanism affecting industry risk.
An asynchronous algorithm for providing energy efficient coverage and connectivity in Wireless Sensor Networks

There are two major requirements for any surveillance application of Wireless Sensor Networks (WSN) — coverage and connectivity. In the design of any algorithm for WSN, the major constraint is limited battery life time of the sensor nodes. Most of the existing work on combined problem of coverage and connectivity either require the clocks of the nodes to be synchronized or require exact location information of the nodes to be known. In this paper, we present an Asynchronous Algorithm which is Energy Efficient and provides integrated Coverage and Connectivity, called (AAEECC). Our algorithm does not require clock synchronization of nodes at any stage neither does it require exact location information of the nodes. It is low cost, fully distributed and scalable. In the following, we discuss the approach used. First, we build a minimum hopcount graph for connectivity. Second, we propose a scheduling algorithm for providing desired coverage. Third, we define a fault tolerant connectivity maintenance algorithm (FTCM) to re-ensure connectivity as network may become disconnected due to scheduling.
Disparate Binding of Three Types of Vitellogenin to Multiple Forms of Vitellogenin Receptor in White Perch1

Three types of white perch (Morone americana) vitellogenin (VtgAa, VtgAb, and VtgC) were purified, labeled with digoxigenin (DIG), and subjected to Vtg receptor (Vtgr) binding assays in 96-well plates coated with perch ovarian membrane proteins or to ligand blotting procedures. Binding specificity was evaluated by incubating membrane protein preparations with constant amounts of DIG-Vtg tracer (VtgAa, VtgAb, VtgC, or a mixture of VtgAa and VtgAb [VtgAa/b]) alone or in the presence of unlabeled Vtg ligands. At 250-fold excess molar concentration relative to the tracer, VtgAa and VtgAb were each able to displace only approximately 50% of bound DIG-VtgAa/b, but VtgAa/b could fully displace DIG-VtgAa and DIG-VtgAb under the same conditions. Over a broad range of excess molar ratios, unlabeled VtgAa and VtgAb each displaced their respective DIG-Vtg tracer much more effectively than each did the heterologous tracer (DIG-VtgAb and DIG-VtgAa, respectively). Ligand blotting revealed three forms of Vtgr, a large receptor (>212 kDa) that bound only to VtgAa and two smaller receptors (∼116 and ∼110.5 kDa) that bound preferentially to VtgAb. The VtgC did not specifically bind to ovarian membrane proteins in either assay. Collectively, these results indicate the presence of a system of multiple ovarian Vtgrs with disparate binding to the three types of Vtg present in higher-order teleosts (Acanthomorpha). To our knowledge, this is the first report on binding of multiple types of Vtg to multiple forms of Vtgr in any vertebrate.
Energy and performance evaluation of a dimension order routing algorithm for Mesh-of-Tree based Network-on-Chip architecture

This paper proposes a new dimension order routing algorithm for Mesh-of-Tree based Network-on-Chip design. It simplifies the router design as well. It results in significant saving in the energy consumed by the network. For uniform traffic, the saving is as high as 63%. It offers the flexibility of designing routers of different sizes for mapping of applications.
A new deployment mechanism for reflector antennas

A new mechanism for deploying reflector antennas is herein introduced, and its functionality demonstrated for VSAT and satellite TV reception systems. The prototype, herein referred to as DRSAT (deployable reflector for satellite applications), was constructed using sheet aluminum, a fine metal mesh, an existing feed and low noise block, and a directionally adjustable base. The DRSAT design employs a 39-cm offset reflector antenna, which when collapsed occupies less than 0.03 m/sup 3/. Computer simulations performed with the program PRAC (parabolic reflector analysis code) were conducted to validate the design and assess the impact of surface errors during manufacturing.
Comparative Analysis of Sharpe and Sortino Ratio with reference to Top Ten Banking and Finance Sector Mutual Funds

Mutual fund represents a way of investing money into a professionally managed and diversified pool of securities that hopefully will provide a good return on unit holder’s money for the purpose of making an investment in mutual fund, fund manager prepare a professionally managed set of portfolios. A portfolio is defined as a collection of investments. As it is not desirable for any investor to invest all its funds in one individual security. Hence the performance of mutual funds takes very important role. There are various ratios to analyse the performance of mutual fund. Here with my analysis i want give an understanding of Sharpe ratio and Sortino ratio. As we know within the last few year considerable progresses has been made in three closely related areas-the theory of portfolio selection, the theory of the pricing of capital asset under the condition of risk, and the general behaviour of stock market prices. Result obtained in all three areas is relevant for evaluating mutual fund performance. However with this reference, i want to analyse the performance of mutual fund with the help of Sharpe ratio and Sortino ratio which are used for the portfolio evaluation and also want to give comparative analysis of Sortino ratio and Sharpe ratio.
Nophoto navigation technique for craniocerebral operation

Every mapping can all be divided into three kind CT MRI and anatomic figure. Orientation to observe takes to can be divided into the cross section and arrow section and coronary section. The Image can be contracted to put, filled comments as well as corrected etc. Intraoperative imaging is used more frequently today since this enables the neurosurgeon to localize structures inside the brain more accurately and helps to detect shape changes.This paper highlights recent and ongoing research related to applications of Computer-assisted navigation technique in the neurosurgical operation. The purpose is to provide an overview for those reviewing research proposals and no image guidance in this field. It also provides a general introduction to virtual reality especially as it relates to health care. Based on a set of feature points, an initial sparse estimate of the displacement field is found by optimizing a local cost function. A nonlinear elastic model is then used to infer the volumetric deformation across the image. Inhomogeneous elasticity parameters are generated using empirically observed variability of the brain from a dataset of more than 200 adults. Initial results are generated on intraoperative image sequences showing brain shift. The direction of surgical operation should be constantly changed, especially in brain operation. Owing to the fact that the form is different from every patient, the positron that will be observed is narrow and small, the instrument of tradition makes doctor see the real direction in the operation very hard.
Mutant forms of the Escherichia coliβ sliding clamp that distinguish between its roles in replication and DNA polymerase V‐dependent translesion DNA synthesis

The Escherichia coliβ sliding clamp is proposed to play an important role in regulating DNA polymerase traffic at the replication fork. As part of an ongoing effort to understand how organisms manage the actions of their multiple DNA polymerases, we examined the ability of several mutant forms of the β clamp to function in DNA polymerase V‐ (pol V‐) dependent translesion DNA synthesis (TLS) in vivo. Our results indicate that a dnaN159 strain, which expresses a temperature sensitive form of the β clamp, was impaired for pol V‐dependent TLS at the permissive temperature of 37°C. This defect was complemented by a plasmid that expressed near‐physiological levels of the wild‐type clamp. Using a dnaN159 mutant strain, together with various plasmids expressing mutant forms of the clamp, we determined that residues H148 through R152, which comprise a portion of a solvent exposed loop, as well as position P363, which is located in the C‐terminal tail of the β clamp, are critically important for pol V‐dependent TLS in vivo. In contrast, these same residues appear to be less critical for pol III‐dependent replication. Taken together, these findings indicate that: (i) the β clamp plays an essential role in pol V‐dependent TLS in vivo and (ii) pol III and pol V interact with non‐identical surfaces of the β clamp.