LLukas22/scidocs huggingface dataset:
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

AbstractDeficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.
LCD motion blur modeling and analysis

Compared to cathode-ray tube (CRT) devices, the current liquid crystal display (LCD) devices have advantage on many aspects but disadvantage on displaying motion contents. LCD motion blur is caused jointly by the slow LCD's temporal response and the hold-type LCD's rendering method together with the motion pursuing function of human visual system (HVS). Although LCD motion blur has been addressed extensively in the literature, there is no systematic analysis. In this paper, a general LCD motion blur model, based on the sampling and reconstruction theory, is developed. This model, covering LCD and HVS, provides a systematic tool for quantitatively analyzing the LCD motion blur problem associated with any current and emerging LCD rendering technologies.
Relevance of education and intelligence at the national level for the economic welfare of people

Cognitive abilities are important for the economic and non-economic success of individuals and societies. For international analyses, the collection of IQ-measures fromLynn andVanhanenwas supplemented andmeliorated by data from international student assessment studies (IEA-Reading, TIMSS, PISA, PIRLS). The cognitive level of a nation is highly correlated with its educational level (r=.78, N=173). In international comparisons, it also shows a high correlation with gross domestic product (GDP, r=.63, N=185). However, in cross-sectional studies, the causal relationship between intelligence and national wealth is difficult to determine. In longitudinal analyses with various samples of nations, education and cognitive abilities appear to be more important as developmental factors for GDP than economic freedom. Education and intelligence are also more relevant to economic welfare than vice versa, but at the national level the influence of economic wealth on cognitive development is still substantial. © 2007 Elsevier Inc. All rights reserved.
Randomized, controlled trial of intramuscular or intracoronary injection of autologous bone marrow cells into scarred myocardium during CABG versus CABG alone

Background Studies of the transplantation of autologous bone marrow cells (BMCs) in patients with chronic ischemic heart disease have assessed effects on viable, peri-infarct tissue. We conducted a single-blinded, randomized, controlled study to investigate whether intramuscular or intracoronary administration of BMCs into nonviable scarred myocardium during CABG improves contractile function of scar segments compared with CABG alone.Methods Elective CABG patients (n = 63), with established myocardial scars diagnosed as akinetic or dyskinetic segments by dobutamine stress echocardiography and confirmed at surgery, were randomly assigned CABG alone (control) or CABG with intramuscular or intracoronary administration of BMCs. The BMCs, which were obtained at the time of surgery, were injected into the mid-depth of the scar in the intramuscular group or via the graft conduit supplying the scar in the intracoronary group. Contractile function was assessed in scar segments by dobutamine stress echocardiography before and 6 months after treatment.Results The proportion of patients showing improved wall motion in at least one scar segment after BMC treatment was not different to that observed in the control group (P = 0.092). Quantitatively, systolic fractional thickening in scar segments did not improve with BMC administration. Furthermore, BMCs did not improve scar transmurality, infarct volume, left ventricular volume, or ejection fraction.Conclusion Injection of autologous BMCs directly into the scar or into the artery supplying the scar is safe but does not improve contractility of nonviable scarred myocardium, reduce scar size, or improve left ventricular function more than CABG alone.
Dissociation of early shock in takotsubo cardiomyopathy from either right or left ventricular systolic dysfunction.

BACKGROUND
Takotsubo cardiomyopathy (TTC) is often associated with hypotension and shock. However, development of hypotension/shock in TTC is not closely related to extent of left ventricular (LV) hypokinesis. We sought to determine whether additional right ventricular (RV) involvement in TTC might contribute to hypotension and shock development and thus to prolonged hospital stay (PHS).


METHODS
We evaluated 102 consecutive TTC patients with acute transthoracic echocardiography (TTE) to detect RV hypokinesis. Correlates of hypotension, shock and PHS were identified by univariate and multivariate analyses.


RESULTS
Of the 102 patients evaluated, 33% had RV hypokinesis but only 9% had extensive RV involvement. Within the first 24 hours of admission, severe hypotension (systolic blood pressure (SBP) ≤ 90 mmHg) occurred in 21% of the patients and shock (hypotension + peripheral organ hypo-perfusion) in 16.6% of cases. RV involvement was a univariate but not a multivariate correlate of either hypotension or shock and did not result in PHS. On the other hand, RV involvement predicted more extensive LV hypokinesis and LV systolic dysfunction.


CONCLUSIONS
In TTC, RV hypokinesis occurs in approximately 33% of cases and correlates with more severe LV wall motion abnormality but not with development of hypotension or shock. These data therefore reinforce previous findings that hypotension/shock in TTC are not purely by impaired cardiac output.
A randomized phase 2a efficacy and safety trial of the topical Janus kinase inhibitor tofacitinib in the treatment of chronic plaque psoriasis

BACKGROUND
Tofacitinib (CP-690,550) is a novel Janus kinase inhibitor in development as an oral formulation for the treatment of several inflammatory diseases including psoriasis.


OBJECTIVES
This phase 2a study aimed to assess the efficacy, systemic safety, local tolerability and systemic pharmacokinetics of topical tofacitinib in mild-to-moderate plaque psoriasis.


METHODS
Two tofacitinib ointment formulations were evaluated in this multicentre, double-blind, vehicle-controlled trial (NCT01246583). Seventy-one patients were randomized 2 : 1 : 2 : 1 to 2% tofacitinib ointment 1, vehicle 1, 2% tofacitinib ointment 2 and vehicle 2, each administered twice daily for 4 weeks to a single fixed 300 cm(2) treatment area containing a target plaque with or without one or more nontarget plaques and normal skin.


RESULTS
The primary endpoint of percentage change from baseline in the Target Plaque Severity Score at week 4 demonstrated statistically significant improvement for ointment 1 [least squares mean (LSM) -54.4%] vs. vehicle 1 (LSM -41.5%), but not ointment 2 (LSM -24.2%) vs. vehicle 2 (LSM -17.2%). Secondary endpoints (target plaque area and Itch Severity Item) improved similarly for tofacitinib ointment vs. corresponding vehicle. Adverse event (AE) occurrence was similar across treatment groups. All AEs were mild or moderate and none were serious or led to subject discontinuation. One application-site AE (erythema) was reported. Tofacitinib mean systemic exposure was minimal and was greater for ointment 1 than for ointment 2.


CONCLUSIONS
Tofacitinib ointment 1 was well tolerated and efficacious compared with vehicle for the treatment of plaque psoriasis. Further study of topical tofacitinib for psoriasis treatment is warranted.
The allegorical text and history: J.M. Coetzee's Waiting for the Barbarians

Summary This article attempts to move beyond what are perceived to be the limitations of both Lukacsian Marxist and Deconstructionist accounts of J.M. Coetzee's Waiting for the Barbarians. If a Lukacsian Marxism has correctly introduced the category of “history” into the analyses of the novel, it has done so only to berate Coetzee for its absence. Teresa Dovey's Deconstructionist analyses have helpfully focused attention on the novel's intertextual critique of the South African liberal novel. However, her criticism is deformed by its inability to confront the complexities of the text's meditation upon its relationship with “history”. The linguistic theory of Saussure, and Walter Benjamin's theory of allegory, are used to analyse that relationship. While the allegoric form acts as a critique of “classic realist” writing, this does not signal the text's refusal of “history”. Rather, it affirms its location as a signifying “interpretation” of the real that recognises its discursive specificity. The novel exa...
Performance on the continuous performance test in children with ADHD is associated with sleep efficiency.

STUDY OBJECTIVE
To examine whether the level of sleep efficiency of children diagnosed with ADHD moderates their performance on the Continuous Performance Test (CPT) while receiving a placebo and while receiving methylphenidate (MPH).


DESIGN
Nightly sleep actigraphic assessment during a double-blind, placebo-controlled, crossover clinical study (1 week of 0.5 mg/kg MPH; 1 week of placebo) were obtained on 37 children between 6 and 12 years of age with a DSM-IV diagnosis of ADHD. Subjects were divided into 2 groups based on the mean sleep efficiency score during the placebo condition, with subjects above and below the mean placed in the Poor Sleep Group (PSG) and Good Sleep Group (GSG), respectively.


SETTING
Vigilance testing was conducted in the laboratory; sleep was assessed in the home.


MEASUREMENTS
Sleep was monitored using actigraphy for 2 weeks. In addition, parents were asked to complete nightly sleep logs and a sleep questionnaire. The Conners' Continuous Performance Test (CPT) was used to assess vigilance.


RESULTS
Significant interaction of Sleep Group with Medication was found on 1 CPT factor.


CONCLUSIONS
The findings of the present study support the hypothesis that sleep moderates performance on CPT in children with ADHD while receiving placebo or MPH.
Using Imageability and Topic Chaining to Locate Metaphors in Linguistic Corpora

The reliable automated identification of metaphors still remains a challenge in metaphor research due to the ambiguity between the semantic and contextual interpretation of individual lexical items. In this article, we describe a novel approach to metaphor identification which is based on three intersecting methods: imageability, topic chaining, and semantic clustering. Our hypothesis is that metaphors are likely to use highly imageable words that do not generally have a topical or semantic association with the surrounding context. Our method is thus the following: (1) identify the highly imageable portions of a paragraph, using psycholinguistic measures of imageability, (2) exclude imageability peaks that are part of a topic chain, and (3) exclude imageability peaks that show a semantic relationship to the main topics. We are currently working towards fully automating this method for a number of languages.
Global, regional, and national prevalence of overweight and obesity in children and adults during 1980–2013: a systematic analysis for the Global Burden of Disease Study 2013

BACKGROUND
In 2010, overweight and obesity were estimated to cause 3·4 million deaths, 3·9% of years of life lost, and 3·8% of disability-adjusted life-years (DALYs) worldwide. The rise in obesity has led to widespread calls for regular monitoring of changes in overweight and obesity prevalence in all populations. Comparable, up-to-date information about levels and trends is essential to quantify population health effects and to prompt decision makers to prioritise action. We estimate the global, regional, and national prevalence of overweight and obesity in children and adults during 1980-2013.


METHODS
We systematically identified surveys, reports, and published studies (n=1769) that included data for height and weight, both through physical measurements and self-reports. We used mixed effects linear regression to correct for bias in self-reports. We obtained data for prevalence of obesity and overweight by age, sex, country, and year (n=19,244) with a spatiotemporal Gaussian process regression model to estimate prevalence with 95% uncertainty intervals (UIs).


FINDINGS
Worldwide, the proportion of adults with a body-mass index (BMI) of 25 kg/m(2) or greater increased between 1980 and 2013 from 28·8% (95% UI 28·4-29·3) to 36·9% (36·3-37·4) in men, and from 29·8% (29·3-30·2) to 38·0% (37·5-38·5) in women. Prevalence has increased substantially in children and adolescents in developed countries; 23·8% (22·9-24·7) of boys and 22·6% (21·7-23·6) of girls were overweight or obese in 2013. The prevalence of overweight and obesity has also increased in children and adolescents in developing countries, from 8·1% (7·7-8·6) to 12·9% (12·3-13·5) in 2013 for boys and from 8·4% (8·1-8·8) to 13·4% (13·0-13·9) in girls. In adults, estimated prevalence of obesity exceeded 50% in men in Tonga and in women in Kuwait, Kiribati, Federated States of Micronesia, Libya, Qatar, Tonga, and Samoa. Since 2006, the increase in adult obesity in developed countries has slowed down.


INTERPRETATION
Because of the established health risks and substantial increases in prevalence, obesity has become a major global health challenge. Not only is obesity increasing, but no national success stories have been reported in the past 33 years. Urgent global action and leadership is needed to help countries to more effectively intervene.


FUNDING
Bill & Melinda Gates Foundation.
Integrating metaheuristics and Artificial Neural Networks for improved stock price prediction

Stock market price is one of the most important indicators of a country’s economic growth. That’s why determining the exact movements of stock market price is considerably regarded. However, complex and uncertain behaviors of stock market make exact determination impossible and hence strong forecasting models are deeply desirable for investors’ financial decision making process. This study aims at evaluating the effectiveness of using technical indicators, such as simple moving average of close price, momentum close price, etc. in Turkish stock market. To capture the relationship between the technical indicators and the stock market for the period under investigation, hybrid Artificial Neural Network (ANN) models, which consist in exploiting capabilities of Harmony Search (HS) and Genetic Algorithm (GA), are used for selecting the most relevant technical indicators. In addition, this study simultaneously searches the most appropriate number of hidden neurons in hidden layer and in this respect; proposed models mitigate well-known problem of overfitting/underfitting of ANN. The comparison for each proposed model is done in four viewpoints: loss functions, return from investment analysis, buy and hold analysis, and graphical analysis. According to the statistical and financial performance of these models, HS based ANN model is found as a dominant model for stock market forecasting. © 2015 Elsevier Ltd. All rights reserved. ( d t o t y m p i A w H a i s f i
A diagnostic algorithm combining clinical and molecular data distinguishes Kawasaki disease from other febrile illnesses

BACKGROUND
Kawasaki disease is an acute vasculitis of infants and young children that is recognized through a constellation of clinical signs that can mimic other benign conditions of childhood. The etiology remains unknown and there is no specific laboratory-based test to identify patients with Kawasaki disease. Treatment to prevent the complication of coronary artery aneurysms is most effective if administered early in the course of the illness. We sought to develop a diagnostic algorithm to help clinicians distinguish Kawasaki disease patients from febrile controls to allow timely initiation of treatment.


METHODS
Urine peptidome profiling and whole blood cell type-specific gene expression analyses were integrated with clinical multivariate analysis to improve differentiation of Kawasaki disease subjects from febrile controls.


RESULTS
Comparative analyses of multidimensional protein identification using 23 pooled Kawasaki disease and 23 pooled febrile control urine peptide samples revealed 139 candidate markers, of which 13 were confirmed (area under the receiver operating characteristic curve (ROC AUC 0.919)) in an independent cohort of 30 Kawasaki disease and 30 febrile control urine peptidomes. Cell type-specific analysis of microarrays (csSAM) on 26 Kawasaki disease and 13 febrile control whole blood samples revealed a 32-lymphocyte-specific-gene panel (ROC AUC 0.969). The integration of the urine/blood based biomarker panels and a multivariate analysis of 7 clinical parameters (ROC AUC 0.803) effectively stratified 441 Kawasaki disease and 342 febrile control subjects to diagnose Kawasaki disease.


CONCLUSIONS
A hybrid approach using a multi-step diagnostic algorithm integrating both clinical and molecular findings was successful in differentiating children with acute Kawasaki disease from febrile controls.
Test Case Generation from Behavioral UML Models

We propose an integrated approach to generate test cases from UML sequence and activity diagrams. We first transform these UML diagrams into a graph. Then, we propose an algorithm to generate test scenarios from the constructed graph. Next, the necessary information for test case generation, such as method-activity sequence, associated objects, and constraint conditions are extracted from test scenario. Our approach reduces the number of test cases and still achieves adequate test coverage. We achieve message-activity path coverage and category partitioning method for each predicate conditions found in the specific path of the design model.
An unfermented gel component of psyllium seed husk promotes laxation as a lubricant in humans.

BACKGROUND
In addition to increasing stool weight, supplements of psyllium seed husk produce stools that are slick and gelatinous.


OBJECTIVE
Our purpose was to test the hypothesis that a gel-forming fraction of psyllium escapes microbial fermentation and is responsible for the characteristics that enhance laxation.


DESIGN
Fifteen healthy adults consumed controlled diets for two 7-d periods, one of which included 8.8 g dietary fiber provided by 15 g/d of a psyllium seed husk preparation. All stools were collected and evaluated and diet was monitored throughout.


RESULTS
Psyllium significantly increased the apparent viscosity of an aqueous stool extract, stool moisture, and wet and dry stool weights. A very viscous fraction, not present in low-fiber stool and containing predominantly 2 sugars that are also found in abundance in psyllium husk, was isolated from psyllium stool.


CONCLUSIONS
In contrast with other viscous fibers that are fermented completely in the colon, a component of psyllium is not fermented. This gel provided lubrication that facilitated propulsion of colon contents and produced a stool that was bulkier and more moist than were stools resulting with use of comparable amounts of other bowel-regulating fiber sources.
Automatic language identification

Automatic language identification is the process by which the language of a digitized speech utterance is recognized by a computer. In this paper, we will describe the set of available cues for language identification and discuss the different approaches to building working systems. This overview includes a range of historic approaches, contemporary systems that have been evaluated on standard databases, as well as promising future approaches. Comparative results are also reported.
in situ measurement of pavement thickness and dielectric permittivity by GPR using an antenna array

We present a ground penetrating radar (GPR) system, which uses an antenna array for in situ measurements of the thickness and dielectric permittivity of an asphalt pavement layer. We calibrated the antenna array by considering the antenna phase center and the antenna offset. The results of the laboratory measurements demonstrate that the proposed calibration method can greatly improve the accuracy of the velocity and thickness estimations when compared with the conventional method. A field measurement conducted on a highway pavement shows that the error of the thickness estimation of the asphalt layer is less than 6 mm (10%). & 2014 Elsevier Ltd. All rights reserved.
Clinical evaluation of AZD1152, an i.v. inhibitor of Aurora B kinase, in patients with solid malignant tumors.

BACKGROUND
To determine, for each of two dosing schedules, the dose-limiting toxicity (DLT) and maximum-tolerated dose (MTD) of AZD1152, an Aurora B kinase inhibitor, and to evaluate its safety, biologic activity and pharmacokinetics (PK).


PATIENTS AND METHODS
Patients with advanced solid malignancies were treated with escalating doses (100-650 mg) of AZD1152, administered as a 2-h infusion every 7 days (A) or 14 days (B). Adverse events (AEs), PK variables and tumor response were assessed.


RESULTS
Fifty-nine patients were treated; 19 in schedule A and 40 in schedule B. The MTDs were 200 and 450 mg, respectively. Neutropenia (with/without fever) was the most frequent AE and DLT in each schedule. Common Terminology Criteria of Adverse Events version 3.0 grade ≥3 neutropenia and leukopenia occurred in 58% and 11% of patients, respectively, in schedule A and 43% and 20%, respectively, in schedule B. No objective tumor responses were observed at any dose or schedule, although stable disease, as defined by RECIST, was achieved in 15 patients (25%) overall. Systemic exposure to AZD1152-hQPA (active drug) was observed by 1 h into the infusion and exhibited linear PK.


CONCLUSIONS
AZD1152 was generally well tolerated with neutropenia being the most frequently reported AE and DLT. Exposure to AZD1152-hQPA, the active drug of AZD1152, was linear.
Gait-Watch: A Context-Aware Authentication System for Smart Watch Based on Gait Recognition

With recent advances in mobile computing and sensing technology, smart wearable devices have pervaded our everyday lives. The security of these wearable devices is becoming a hot research topic because they store various private information. Existing approaches either only rely on a secret PIN number or require an explicit user authentication process. In this paper, we present Gait-watch, a context-aware authentication system for smart watch based on gait recognition. We address the problem of recognizing the user under various walking activities (e.g., walking normally, walking with calling the phone), and propose a sparse fusion method to improve recognition accuracy. Extensive evaluations show that Gait-watch improves recognition accuracy by up to 20% by leveraging the activity information, and the proposed sparse fusion method is 10% better than several state-of-the-art gait recognition methods. We also report a user study to demonstrate that Gait-watch can accurately authenticate the user in real world scenarios and require low system cost.