Miracle-dz/UniFAR-FTUs huggingface dataset:
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Purpose It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. Methods DFNB31 was screened in 149 USH2, 29 USH1, six atypical USH, and 11 unclassified USH patients from diverse ethnic backgrounds. Mutation detection was performed by direct sequencing of all coding exons. Results We identified 38 different variants among 195 patients. Most variants were clearly polymorphic, but at least two out of the 15 nonsynonymous variants (p.R350W and p.R882S) are predicted to impair whirlin structure and function, suggesting eventual pathogenicity. No putatively pathogenic mutation was found in the second allele of patients with these mutations. Conclusions DFNB31 is not a major cause of USH.
Single nucleotide polymorphisms associated with abnormal coronary microvascular function

BackgroundSingle nucleotide polymorphisms (SNPs) are the most common source of genetic variation. Although microvascular pathology is associated with cardiovascular events, genetic phenotypes causing microvascular disease remain largely unknown. This study identifies sex-specific SNPs associated with coronary microvascular dysfunction. Methods and resultsSix hundred and forty-three patients without significant obstructive coronary heart disease were enrolled, referred for cardiac catheterization, and underwent invasive coronary microcirculatory assessment. Patient data were collected from 1529 autosomal SNPs and seven X chromosome SNPs, which were selected to represent the variability from 76 candidate genes with published associations with coronary vasoreactivity, angiogenesis, inflammation, vascular calcification, atherosclerosis risk factors, female hormones, blood coagulation, or coronary heart disease. Coronary flow reserve (CFR) was assessed by an intracoronary injection of adenosine. Patients were categorized according to a CFR above or below 2.5 and were stratified by sex.After adjusting for age, sex, and BMI, this study shows that SNPs within VEGFA and CDKN2B-AS1 are associated with abnormal CFR (P<0.005). SNPs within MYH15, VEGFA, and NT5E are associated with abnormal CFR in men. No SNPs were associated with abnormal CFR in women. ConclusionGenetic variations within defined regions of VEGFA and CDKN2B-AS1 genes are associated with coronary microvascular dysfunction. Furthermore, sex-specific allelic variants within MYH15, VEGFA, and NT5E are associated with an increased risk of coronary microvascular dysfunction in men.
Electrophysiological evidence for language interference in late bilinguals

The mechanism by which late bilinguals access the meaning of words presented in their second language (conceptual mediation or word association) is highly debated. Here we asked late Chinese-English bilinguals undergoing event-related potential (ERP) recordings to indicate whether pairs of English words were related or unrelated in meaning. Participants were unaware that half of the pairs concealed a repeated Chinese character when translated into Chinese. As expected, native English controls showed no sensitivity to this hidden factor. However, pairs of words unrelated in meaning and concealing form repetition through Chinese translation elicited longer reaction times, greater error rates, and larger N400 ERP shifts in Chinese participants. These findings demonstrate that Chinese participants unconsciously translate words into Chinese while reading English.
Application of joinpoint regression in determining breast cancer incidence rate change points by age and tumor characteristics in women aged 30–69 (years) and in Isfahan city from 2001 to 2010

Background and Objectives: Breast cancer is a major threat to women's health. Evaluation of the changes in trend of the incidence rate provides valuable information for the assessment and planning of development indicators of each country. The aim of the present study was to apply the JoinPoint regression model for determining changes in the trend of the breast cancer incidence rate in Isfahan. Materials and Methods: In this cross-sectional study, 3640 women with breast cancer referring to oncology and radiotherapy departments of Seyed-al-Shohada and Milad cancer treatment centers of Isfahan during 2001–2010 were studied and sampling was not done. Joinpoint regression model was used to investigate the pattern of breast cancer incidence rate. Response and independent variables were the natural logarithm of the age-standardized incidence rates and year of diagnosis of breast cancer, respectively, in which various levels of cancer tumor characteristics (P < 0.05) were analyzed. Results: The incidence rates increased annually in the age groups of 40–44 years (6.2%), 45–49 years (5.3%), and 55–59 years (5.3%). The trend of incidence rates in women with tumor size ≤2 cm (18.2%), well (moderately) differentiated tumor grade [8% (10.2%)], positive estrogen (progesterone) hormone receptor status [10.5% (6.9%)], and the proportion of positive lymph node to surgery node ≤25% (nonsignificant) was upward. Conclusion: The trend of incidence rates with tumor size ≤2 cm, well-differentiated tumor grade, moderately differentiated tumor grade, and positive estrogen and progesterone hormone receptors was upward. The pattern of breast cancer can help in cancer prevention and prognosis, and in selecting the best type of surgery.
Bayesian Inference for Spatio-temporal Spike-and-Slab Priors

In this work, we address the problem of solving a series of underdetermined linear inverse problems subject to a sparsity constraint. We generalize the spike-and-slab prior distribution to encode a priori correlation of the support of the solution in both space and time by imposing a transformed Gaussian process on the spike-and-slab probabilities. An expectation propagation (EP) algorithm for posterior inference under the proposed model is derived. For large scale problems, the standard EP algorithm can be prohibitively slow. We therefore introduce three different approximation schemes to reduce the computational complexity. Finally, we demonstrate the proposed model using numerical experiments based on both synthetic and real data sets.
Improving the Quality of Prediction Intervals Through Optimal Aggregation

Neural networks (NNs) are an effective tool to model nonlinear systems. However, their forecasting performance significantly drops in the presence of process uncertainties and disturbances. NN-based prediction intervals (PIs) offer an alternative solution to appropriately quantify uncertainties and disturbances associated with point forecasts. In this paper, an NN ensemble procedure is proposed to construct quality PIs. A recently developed lower-upper bound estimation method is applied to develop NN-based PIs. Then, constructed PIs from the NN ensemble members are combined using a weighted averaging mechanism. Simulated annealing and a genetic algorithm are used to optimally adjust the weights for the aggregation mechanism. The proposed method is examined for three different case studies. Simulation results reveal that the proposed method improves the average PI quality of individual NNs by 22%, 18%, and 78% for the first, second, and third case studies, respectively. The simulation study also demonstrates that a 3%-4% improvement in the quality of PIs can be achieved using the proposed method compared to the simple averaging aggregation method.
A hardware-in-the-loop simulation of AGC for large scale wind-gas coordinating power generation

With more wind power integrated into grid, wind-gas coordinating power generation attracts extensive attention, and it's no longer appropriate to validate automatic generation control (AGC) algorithm for large scale wind-gas generation with a single tool. First, this paper proposes an AGC simulation architecture that combines Real Time Digital Simulator (RTDS) and other off-the-shelf devices to implement the hardware-in-the-loop (HIL) simulation. Then the concept of wind-gas coordinating equivalent power plant (WGPP) is adopted to participate in power system dispatching, and several AGC strategies are proposed accordingly. Case study validates the feasibility of the AGC simulation platform, and demonstrates the WGPP concept can improve the tie-line control.
Quality in qualitative evaluation: A framework for assessing research evidence. A quality framework.

This document presents a framework for appraising the quality of qualitative evaluations. It was developed with particular reference to evaluations concerned with the development and implementation of social policy programmes and practice. The framework was devised as part of a programme of research conducted on behalf of the Cabinet Office.The research on which the framework was built involved: a comprehensive review of the literature on qualitative research methods relating to standards in qualitative research; a review of qualitative research methods used in Government funded evaluation studies; a review of existing frameworks for assessing quality in qualitative research; exploratory interviews with a range of people who have an interest in quality assessment of qualitative research and/or policy-related evaluations. These included academics who have written about qualitative research from either a theoretical or empirical perspective; authors of existing frameworks; research practitioners; commissioners and funders; and policy-makers who have used qualitative research evidence in the development and evaluation of policies; a workshop involving the above groups to refine the framework initially developed; a trial application of the framework to a small number of studies. All these strands of activity have heavily influenced the content of the framework and the premises that surround its operation.
Bar code localization using texture analysis

Automatically locating a bar code on an object (e.g., a consumer product, postal mial, etc.) is an important step in an optical bar code recognition system. The authors present an approach for automatic bar code localization, which is based on the multichannel Gabor filtering technique. Both supervised and unsupervised methods are discussed. These methods are rotation-invariant and are able to locate bar codes on planar and curved surfaces. <<ETX>>
Modeling the Costs of Hospital-Acquired Infections in New Zealand

Abstract Objective: To model the economic costs of hospital-acquired infections (HAIs) in New Zealand, by type of HAI. Design: Monte Carlo simulation model. Setting: Auckland District Health Board Hospitals (DHBH), the largest publicly funded hospital group in New Zealand supplying secondary and tertiary services. Costs are also estimated for predicted HAIs in admissions to all hospitals in New Zealand. Patients: All adults admitted to general medical and general surgical services. Method: Data on the number of cases of HAI were combined with data on the estimated prolongation of hospital stay due to HAI to produce an estimate of the number of bed days attributable to HAI. A cost per bed day value was applied to provide an estimate of the economic cost. Costs were estimated for predicted infections of the urinary tract, surgical wounds, the lower and upper respiratory tracts, the bloodstream, and other sites, and for cases of multiple sites of infection. Sensitivity analyses were undertaken for input variables. Results: The estimated costs of predicted HAIs in medical and surgical admissions to Auckland DHBH were $10.12 (US $4.56) million and $8.64 (US $3.90) million, respectively. They were $51.35 (US $23.16) million and $85.26 (US $38.47) million, respectively, for medical and surgical admissions to all hospitals in New Zealand. Conclusions: The method used produces results that are less precise than those of a specifically designed study using primary data collection, but has been applied at a lower cost. The estimated cost of HAIs is substantial, but only a proportion of infections can be avoided. Further work is required to identify the most cost-effective strategies for the prevention of HAI.
A 12-b, 30-MS/s, 2.95-mW Pipelined ADC Using Single-Stage Class-AB Amplifiers and Deterministic Background Calibration

A 12-b 30-MS/s pipelined ADC is realized using single-stage, low-gain, class-AB amplifiers, which can dynamically provide the load currents without large static currents. In addition, the amplifiers are power cycled and turned on only during residue amplification to enable further power savings. Nonlinear errors due to finite gain are addressed using a deterministic digital background calibration scheme. The amplifier's transfer function is piecewise modeled in our calibration scheme using three third-order polynomial functions (splines) for low computational overhead. The presented ADC occupies an active area of 0.36 mm2 in 90-nm CMOS. It dissipates 2.95 mW from a 1.2-V supply and achieves an SNDR of 64.5 dB for inputs near Nyquist. The corresponding figure of merit is 72 fJ/conversion-step.
Monoclonal Antibodies Recognize Distinct Conformational Epitopes Formed by Polyglutamine in a Mutant Huntingtin Fragment*

Huntington disease (HD) is a neurodegenerative disorder caused by an expansion of a polyglutamine (polyQ) domain in the N-terminal region of huntingtin (htt). PolyQ expansion above 35–40 results in disease associated with htt aggregation into inclusion bodies. It has been hypothesized that expanded polyQ domains adopt multiple potentially toxic conformations that belong to different aggregation pathways. Here, we used atomic force microscopy to analyze the effect of a panel of anti-htt antibodies (MW1–MW5, MW7, MW8, and 3B5H10) on aggregate formation and the stability of a mutant htt-exon1 fragment. Two antibodies, MW7 (polyproline-specific) and 3B5H10 (polyQ-specific), completely inhibited fibril formation and disaggregated preformed fibrils, whereas other polyQ-specific antibodies had widely varying effects on aggregation. These results suggest that expanded polyQ domains adopt multiple conformations in solution that can be readily distinguished by monoclonal antibodies, which has important implications for understanding the structural basis for polyQ toxicity and the development of intrabody-based therapeutics for HD.
CONTRÔLE BARORÉFLEXE DE L'ACTIVITÉ NERVEUSE SYMPATHIQUE CHEZ LE RAT

Chez le rat, un index spontane de mesure de la sensibilite du controle baroreflexe de l'activite nerveuse sympathique (ANS) a ete developpe, valide et applique. Il est fonde sur le calcul du gain de la fonction de transfert entre la pression arterielle et l'ANS, a la frequence cardiaque. L'entrainement cardiaque, chez l'animal anesthesie, revele que ce gain n'est pas influence par les variations du rythme cardiaque. En mesurant l'ANS renale chez des rats vigils ayant des barorecepteurs intacts ou partiellement denerves, il est montre que cet index est positivement correle a la sensibilite baroreflexe mesuree par methode pharmacologique. L'interet fonctionnel de cet index est confirme par l'existence d'une relation inverse avec la variabilite tensionnelle. Chez des rats intacts, l'application aigue d'un stress emotionnel par jet d'air sensibilise le controle baroreflexe de l'ANS renale, et ceci quelle que soit la methode d'evaluation utilisee. Cet index, calcule sur des periodes successives d'une minute, chez des rats eveilles, revele que la sensibilite du controle baroreflexe de l'ANS renale fluctue spontanement au cours du temps. Le calcul de cet index au moyen des ANSs renale et lombaire, enregistrees simultanement chez des rats vigils, suggere une regulation baroreflexe homogene des ANS regionales.
Minimum Wages and Youth Employment: Evidence from the Finnish Retail Trade Sector

Following an agreement between the trade unions and the employer organizations in 1993, Finnish employers could temporarily pay less than the existing minimum wage for young workers. We examine the effects of these minimum wage exceptions by comparing the changes in wages and employment of the groups whose minimum wages were reduced with simultaneous changes among slightly older workers for whom the minimum wages remained unchanged. Our analysis is based on payroll record data and minimum wage agreements from the retail trade sector. The results show that average wages in the eligible group declined only modestly. We find no significant effects on employment.
The impact of genome wide supported microRNA‐137 (MIR137) risk variants on frontal and striatal white matter integrity, neurocognitive functioning, and negative symptoms in schizophrenia

Although genome wide association studies have highlighted MicroRNA 137 (MIR137) as a novel susceptibility gene for schizophrenia, the mechanisms by which MIR137 risk variants mediate the neurobiology of schizophrenia are not clear. Based on extant data linking MIR 137 gene with structural brain anomalies and functional brain activations in schizophrenia, we hypothesized that MIR137 risk variants rs1625579 and rs1198588 would be associated with reduced fractional anisotropy in frontostriatal brain regions, impaired neurocognitive functioning and worse psychotic symptoms in schizophrenia patients compared with healthy controls. A total of 147 Chinese participants (84 patients with DSM‐IV diagnosis of schizophrenia (SCZ) and 63 healthy controls (HC)) were genotyped using blood samples and underwent diffusion tensor imaging. Neurocognitive domains and psychotic symptoms were assessed using The Brief Assessment of Cognition Battery for Schizophrenia and Positive and Negative Syndrome Scale respectively. We found significant diagnosis‐genotype interactions in the right orbitofrontal regions (rs1625579: F = 5.44, P = 0.021; rs1198599: F = 7.55, P = 0.005), left striatum (rs1625579: F = 8.09, P = 0.007; rs1198599: F = 9.56, P = 0.002), and negative symptoms (rs1625579: t = 2.45, P = 0.016; rs1198588: t = 2.29, P = 0.024). Specifically, SCZ carrying the risk TT genotype had worse negative symptoms and decreased FA in the fronto‐striatal regions compared to G and A allele carriers for rs1625579 and rs1198588 respectively, and worse attention and processing speed compared with G‐allele for rs1625579. Our findings suggested that the MI137 risk variants were associated with decreased fronto‐striatal brain white matter integrity which may underlie poorer attention, processing speed, and greater negative symptoms in schizophrenia. © 2015 Wiley Periodicals, Inc.
Endothelial Dysfunction of the Peripheral Vascular Bed in the Acute Phase after Ischemic Stroke

Background: Endothelial dysfunction (ED) is relevant for the development of cerebrovascular and cardiovascular diseases. Asymmetric dimethylarginine (ADMA) competes with L-arginine and has been implicated in the development of ED. Increased levels of ADMA have been found in chronic heart failure (CHF). We hypothesized that peripheral ED in acute ischemic stroke is associated with increased ADMA levels. Methods: We evaluated 60 patients with acute stroke in the territory of the middle cerebral artery. Stroke patients were classified according to the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) classification. We compared these patients with patients of similar age without known cardiovascular disease (negative controls, n = 23) and patients with stable, ambulatorily treated CHF (n = 46, left ventricular ejection fraction = 33.8 ± 10.9) with known ED (positive controls). Peripheral endothelial function was assessed by EndoPAT2000 technology using the reactive hyperemia index (RHI). Results: RHI was significantly decreased in stroke and in CHF compared to controls (1.8 ± 0.3 vs. 1.8 ± 0.4 vs. 2.2 ± 0.4, respectively, ANOVA p = 0.01). A decreased RHI was observed in cardioembolic and lacunar infarcts and stroke of undetermined etiology (1.7 ± 0.4, 1.8 ± 0.5 and 1.7 ± 0.3, p < 0.0001). The L-arginine/ADMA ratio was significantly decreased in stroke and in CHF (147.6 ± 31.7 and 126.1 ± 37.9 vs. controls: 161.5 ± 26.1, p < 0.0001) and was lowest in stroke patients in the cardioembolic group (133.0 ± 29.4, p < 0.0001). A lower L-arginine/ADMA ratio was associated with ED in cardioembolic stroke and CHF (r = 0.324, p < 0.05 and r = 0.429, p < 0.0001). Conclusion: Peripheral ED occurs to a similar degree in acute ischemic stroke and CHF. The impaired vasodilator capacity of peripheral arteries reflects the TOAST classification. ADMA may play a role in ED in both acute ischemic stroke and CHF.
Color of Rhythm – A 3-D Visual Representation

Rhythm is needed for all coordinated movements to be performed accurately and, without exception, sports skills are considered rhythmic in nature. Mature motor skill patterns have a definite stable rhythmic structure. Of all sensory systems, vision alone provides human beings with more than half of the information. Contrary to the fluidity of rhythm itself, static images, such as charts and figures have been used to illustrate the limited visual representations of rhythm. Present study explored the possibility of creating a 3-D visual representation of color-coded rhythm.
Animal Models of Atopic Dermatitis

Atopic dermatitis (AD) is a chronic, recurrent eczematous skin disease with itching. Many AD patients have a family history of asthma, allergic rhinitis, and a tendency to IgE overproduction. AD is recognized as a form of persistent antigen- specific dermatitis with a Th2 cytokine profile. Various antigens induce AD, but uniformity of their clinical manifestations suggest the involvement of a common non- antigen-specific pathway. We have generated a keratinocyte-specific caspase-1 transgenic mouse (KCASP1Tg) using the keratin 14 promoter. KCASP1Tg over- secreted IL-1alpha/beta and IL-18 from the skin and developed persistent itching dermatitis with marked serum IgE and histamine elevation at age 8 weeks in specific pathogen-free conditions. We also produced a keratin 14-driven mature IL-18 transgenic mouse (KIL-18Tg). KIL-18Tg developed similar AD-like skin changes with IgE elevation at 24 weeks. KCASP1Tg crossed with stat6-/- devel- oped skin manifestations at age 8 weeks without IgE elevation; however, KCASP1Tg crossed with IL-18-/- did not develop dermatitis. KCASP1Tg crossed with IL-1alpha/beta-/- developed dermatitis at age 24 weeks. Thus, epidermal IL-18 secretion induces AD-like dermatitis, and epidermal IL-1s enhances AD-like changes. Both KCASP1Tg and KIL-18Tg showed Th2-type cytokine profiles and satisfied the human AD criteria. These mice models indicated the involvement of an antigen-independent innate-type pathway in addition to the antigen-specific acquired-type pathway in AD. These models responded to various therapeutic agents for AD, and are ideal, potent tools for the development of gene therapy and other new therapies for AD.
Structural Breaks in the Game: The Case of Major League Baseball

To search for eras in a sports league, we utilize time series tests with structural breaks to identify eras in Major League Baseball performance. Using data from 1871-2010, the mean and standard deviation of four different performance measures are examined to test if deterministic or stochastic trends and structural breaks are present. Throughout, we identify breaks endogenously from the data. Perhaps most notable among our findings, we identify a deterministic trend in the mean slugging percentage in 1921 and 1992, which coincides with the early years of the free swinging (Babe Ruth) era and the modern steroid era, respectively.