Miracle-dz/UniFAR-FTUs huggingface dataset:
KBG syndrome involving a single-nucleotide duplication in ANKRD11

KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis. Subsequent exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which was validated by Sanger sequencing. This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in ANKRD11, thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome. Before molecular diagnosis, this syndrome was not recognized in the proband, as several key features of the disorder were mild and were not recognized by clinicians, further supporting the concept of variable expressivity in many disorders. Although a diagnosis of cerebral folate deficiency has also been given, its significance for the proband's condition remains uncertain.
Railroads and Decentralization of Chinese Cities

This paper investigates how the extent and configuration of recently expanded Chinese highway and railroad networks have influenced urban form in Chinese cities over the past 20 years. This is a period when cities experienced large population inflows and relative losses of industry to urban peripheries. In this context, we find that each radial highway displaces 4 to 5 percent of central city population to surrounding regions and the existence of a ring road displaces an additional 20 percent. While railroads have no effect on the spatial distribution of population in urban areas, each radial railroad displaces 26 percent of industrial GDP from central cities to surrounding regions. We find no effect of radial highways on the spatial distribution of GDP in urban regions, though the existence of a ring road decentralizes large amounts of industrial GDP beyond the amounts decentralized by the existence of railroads. Historical transportation infrastructure provides the identifying exogenous variation in more recent measures of such infrastructure used to measure these treatment effects. We are also grateful to Byron Moldofsky, the University of Toronto Cartography lab and the Neptis Foundation for their support and for their assistance with GIS data.
Policy-makers' views on impact of specialist and advanced practitioner roles in Ireland: the SCAPE study.

AIM To ascertain and explore the views held by key healthcare policy-makers on the impact of clinical specialist and advanced practice nursing and midwifery roles. BACKGROUND Specialist and advanced practice roles are common world-wide and were introduced in Ireland in 2000. After experiencing these roles for a decade, the views of healthcare policy-makers were sought as part of a national evaluation. METHODS A qualitative, descriptive design was used. Following ethical approval, 12 policy-makers were interviewed in 2010, using a six-part interview schedule. RESULTS Policy-makers believed that specialist and advanced practice roles resulted in better continuity of care, improved patient/client outcomes and a more holistic approach. These clinicians were also said to be leading guideline development, new initiatives in care, education of staff, audit and policy development. They lacked administrative support and research time. Budget cuts and a government-applied recruitment moratorium were said to hamper the development of specialist/advanced practice roles. CONCLUSION Healthcare policy-makers believe that specialists and advanced practitioners contribute to higher quality patient/client care, particularly at a strategic level. IMPLICATIONS FOR NURSING MANAGEMENT These roles could make an important contribution to future health service developments, particularly in relation to chronic-disease management and community care, where more advanced practitioner posts are required.
Back to basics: the untreated rabbit reticulocyte lysate as a competitive system to recapitulate cap/poly(A) synergy and the selective advantage of IRES-driven translation

Translation of most eukaryotic mRNAs involves the synergistic action between the 5′ cap structure and the 3′ poly(A) tail at the initiation step. The poly(A) tail has also been shown to stimulate translation of picornavirus internal ribosome entry sites (IRES)-directed translation. These effects have been attributed principally to interactions between eIF4G and poly(A)-binding protein (PABP) but also to the participation of PABP in other steps during translation initiation. As the rabbit reticulocyte lysate (RRL) does not recapitulate this cap/poly(A) synergy, several systems based on cellular cell-free extracts have been developed to study the effects of poly(A) tail in vitro but they generally exhibit low translational efficiency. Here, we describe that the non-nuclease-treated RRL (untreated RRL) is able to recapitulate the effects of poly(A) tail on translation in vitro. In this system, translation of a capped/polyadenylated RNA was specifically inhibited by either Paip2 or poly(rA), whereas translation directed by HCV IRES remained unaffected. Moreover, cleavage of eIF4G by FMDV L protease strongly stimulated translation directed by the EMCV IRES, thus recapitulating the competitive advantage that the proteolytic processing of eIF4G confers to IRES-driven RNAs.
The Centre Acknowledges Financial Support from the Leverhulme Trust under Programme Grant F114/bf Centre for Research on Globalisation and Labour Markets Multinational Companies and Productivity Spillovers: a Meta-analysis with a Test for Publication Bias Multinational Companies and Productivity Spi

Acknowledgements The authors are grateful to Salvador Barrios for helpful comments on an earlier draft. Abstract This paper presents the results of a meta-analysis of the literature on multinational companies and productivity spillovers. Studies in this literature examine spillovers usually within the framework of an econometric analysis in which labour productivity in domestic firms is regressed on a number of covariates assumed to have an effect on productivity, one of which is the presence of foreign firms. A positive and statistically significant coefficient on the foreign presence variable is then taken as evidence that spillovers exist. For a sample of published and unpublished studies, we collect the different coefficients on the foreign presence variable reported in the different studies, and their associated values of the t-statistic. We then regress the value of the t-statistics on a number of study characteristics, such as sample size, variable definitions used, etc. Some of these characteristics, namely, variable definitions, and whether it is a cross-section or panel analysis, have an effect on the size of the coefficient found in the productivity studies. Using a similar regression approach, we also find evidence that there may be publication bias in the literature on productivity spillovers.
Fiscal Policy in a Growth Framework

This paper assesses recent theorising and empirical evidence on the impact of fiscal policyâ€”taxes, public expenditures and budget deficitsâ€”on long-run growth. It considers the relevance of recent advances in growth theory for low-income countries and compares the evidence for low-income countries with that for middle-and high-income (OECD) countries. [Discussion Paper No. 2001/84]
Maximum likelihood associative memories

Associative memories are structures that store data in such a way that it can later be retrieved given only a part of its content - a sort-of error/erasure-resilience property. They are used in applications ranging from caches and memory management in CPUs to database engines. In this work we study associative memories built on the maximum likelihood principle. We derive minimum residual error rates when the data stored comes from a uniform binary source. Second, we determine the minimum amount of memory required to store the same data. Finally, we bound the computational complexity for message retrieval. We then compare these bounds with two existing associative memory architectures: the celebrated Hopfield neural networks and a neural network architecture introduced more recently by Gripon and Berrou.
Towards a Genetic Algorithm for Function Optimization

This article analyses a version of genetic algorithm (GA, Holland 1975) designed for function optimization, which is simple and reliable for most applications. The novelty in current approach is random provision of parameters, created by the GA. Chromosome portions which do not t ranslate into fitness are given function to diversify control parameters for the GA, providing random parameter setting along the way, and doing away with fine-tuning of probabilities of crossover and mutation. We test our algorithm on Royal Road functions to examine the difference between our version (GAW) and the simple GA (SGA) in the speed of discovering schema and creating building blocks. We also look at the usefulness of other standard improvements, such as non-coding segments, elitist selection and multiple crossover.
Sparse signal processing with linear and non-linear observations: A unified shannon theoretic approach

In this work we derive fundamental limits for many linear and non-linear sparse signal processing models including group testing, quantized compressive sensing, multivariate regression and observations with missing features. In general, sparse signal processing problems can be characterized in terms of the following Markovian property. We are given a set of N variables X1, X2, . , XN, and there is an unknown subset of variables S ⊂ {1, 2, . , N} that are relevant for predicting outcomes/outputs Y. In other words, when Y is conditioned on {Xn}nϵS it is conditionally independent of the other variables, {Xn}n∉S. Our goal is to identify the set S from samples of the variables X and the associated outcomes Y. We characterize this problem as a version of the noisy channel coding problem. Using asymptotic information theoretic analyses, we establish mutual information formulas that provide sufficient and necessary conditions on the number of samples required to successfully recover the salient variables. These mutual information expressions unify conditions for both linear and non-linear observations. We then compute sample complexity bounds for the aforementioned models, based on the mutual information expressions.
Determinants and Real Impact of Debt Rollover: Evidence from Debt Reclassifications

Debt rollover, as an integral aspect of firms’ financing decisions, remains relatively underexplored because it is difficult to identify empirically. Debt reclassifications, which indicate intent by firms to roll over their short-term debt on a long-term basis, provide us a unique opportunity to study debt rollover. Reclassifications are surprisingly common among S&P 1500 firms. Over the 1993-2005 period, on average, 33% of the firms reclassify short-term debt as long-term debt each year. Among firms that reclassify short-term debt, the average percentage of reclassified debt to total debt is as high as 40%. We empirically examine the factors that determine the decision of firms to roll over existing or new short-term debt via reclassification. We find that younger and smaller firms, as well as firms with intermediate and no S&P credit ratings, are more likely to roll over debt via reclassifications. Firms are also more likely to roll over debt via reclassification when they have major investment projects, market conditions are not favorable for equity and long-term debt issuance, and refinancing risk is high. Firms that reclassify overcome the financing frictions and achieve significantly higher sales and asset growth, and invest more in both fixed assets and working capital. Consistent with the idea that firms face tighter financial constraints around periods of reclassification than expected future constraints, we find that the cash flow-sensitivity of investment increases and that of cash holdings decreases at the time of debt reclassification. JEL classification: G21, G31, G32
The population of bipolar cells in the rabbit retina

The population of bipolar cells in the rabbit retina was studied using Golgi impregnation and photocatalyzed filling of single cells with dihydrorhodamine, a quantitative sampling technique. The Golgi method revealed the morphology and stratification of cells in detail. The photofilling method allowed us to estimate the frequency of the cell types. From a sample of 243 Golgi‐impregnated bipolar cells and 107 photofilled cells, we identified 1 type of rod bipolar cell and 12 types of cone bipolar cells. An analysis based on retinal coverage indicates that this number of types could be contained within the number of bipolar cells known to exist. The dendrites of most cone bipolars contacted all the cones within the individual cone bipolar cell's dendritic field. Types of bipolar cell were encountered at roughly similar frequency, without any one type predominating. The rabbit retina thus contains about a dozen parallel and roughly equipotent through‐pathways. J. Comp. Neurol. 472:73–86, 2004. © 2004 Wiley‐Liss, Inc.
Direct Cranial Nerve Involvement by Gliomas: Case Series and Review of the Literature

SUMMARY: Malignant gliomas are characterized by infiltrative growth of tumor cells, including along white matter tracts. This may result in clinical cranial neuropathy due to direct involvement of a cranial nerve rather than by leptomeningeal spread along cranial nerves. Gliomas directly involving cranial nerves III–XII are rare, with only 11 cases reported in the literature before 2014, including 8 with imaging. We present 8 additional cases demonstrating direct infiltration of a cranial nerve by a glioma. Asymmetric cisternal nerve expansion compared with the contralateral nerve was noted with a mean length of involvement of 9.4 mm. Based on our case series, the key imaging feature for recognizing direct cranial nerve involvement by a glioma is the detection of an intra-axial mass in the pons or midbrain that is directly associated with expansion, signal abnormality, and/or enhancement of the adjacent cranial nerves.
Attitude Examination Related to Breast Cancer Among Women in Bács-Kiskun County, Hungary

Abstract Breast cancer is the most commonly diagnosed type of cancer and a leading cause of mortality among women both in developed and developing countries all over the world. Our research questions were the following: 1. What is the ratio of women participating in mammography screening? 2. What factors influence the attendance of the screening? A quantitative, cross-sectional, and descriptive study (2013) examined women aged 35-65 without a history of breast cancer from Kecskemét City and its region. Non-random, convenience sampling method was applied in the study. The self-edited and self-administered questionnaire included the following groups of questions: socio-demographic data, attitude examination related to screening, reasons for absence. Besides SPSS Statistics, 20.00 test, x2 test, t-test, and ANOVA were used (p<0.05). During the Principal Component Analysis, 23 variables of the motivational scale were grouped into six theoretical subgroups, and the Cronbach-alpha value was 0.758. The mean age of the participants was 49.96±8.91 years.71% of the interviewees never attended breast cancer screening. Regarding the sample, the mean age of women participating in the screening for the first time was 39.66±12.21 years. Women with college/university degree attained high scores on the knowledge test (p<0.05). A significant part of women went to the screening because they feel responsibility for their health status or due to the family history of breast cancer. Fear, shame, or inconveniencies during examination did not affect participation in screening. Prevention programs play a significant role in the improvement of the health status of the Hungarian population. Mortality and morbidity indicators can be reduced by regularly organized, preventive activities based on appropriate knowledge. Thus, the number of healthy years can be increased.
Token-Based Mutual Exclusion Algorithm in Mobile Cellular Networks

The mutual exclusion (MX) paradigm can be used as a building block in many practical problems such as group communication, atomic commitment and replicated data management where the exclusive use of an object might be useful. The problem has been widely studied in the research community since one reason for this wide interest is that many distributed protocols need a mutual exclusion protocol. However, despite its usefulness, to our knowledge there is no work that has been devoted to this problem in a mobile computing environment. In this paper, we describe a solution to the mutual exclusion problem from mobile computing systems. This solution is based on the token-based mutual exclusion algorithm.
Closing the Vocabulary Gap for Computing Text Similarity and Information Retrieval

This paper studies the integration of lexical semantic knowledge in two related semantic computing tasks: ad-hoc information retrieval and computing text similarity. For this purpose, we compare the performance of two algorithms: (i) using semantic relatedness, and (ii) using a conventional extended Boolean model [13] with additional query expansion. For the evaluation, we use two different test collections in the German language especially suitable to study the vocabulary gap problem: (i) GIRT [5] for the information retrieval task, and (ii) a collection of descriptions of professions built to evaluate a system for electronic career guidance in the information retrieval and text similarity tasks. We found that integrating lexical semantic knowledge increases the performance for both tasks. On the GIRT corpus, the performance is improved only for short queries. The performance on the collection of professional descriptions is improved, but crucially depends on the accurate preprocessing of the natural language essays employed as topics.
Single-session therapy in outpatient mental health services: Examining the effect on mental health symptoms and functioning

ABSTRACT Single-session therapy is being implemented in a number of mental health settings to increase the accessibility and efficiency of services, despite limited evidence supporting its utility. This study evaluated a new single-session therapy program offered to adults at an outpatient community mental health clinic in Northwestern Ontario, Canada. The purpose of the study was to determine if clients’ satisfaction with the service and outcomes after attendance supported continued implementation of single-session therapy We hypothesized that after attending the session, clients would (1) be satisfied with the service, (2) experience a decrease in their symptom severity, (3) experience less impairment related to their symptoms, and (4) report improvements in their ability to manage their presenting problem. Participants (n = 109, 63% women, Mage = 38.95, SD = 13.96) completed measures related to their satisfaction with the service, symptom severity, impairment, and their ability to manage their presenting problem before the session, after the session, and at one-month follow-up. The majority of participants rated the session favourably, and experienced a decrease in their symptom severity and associated impairment after attending the session. Moreover, they reported improvements in their ability to manage their presenting problem in terms of the stress it has caused them, their understanding of the cause, their ability to cope, and their knowledge of supporting resources. The single-session therapy service also provided access to services sooner than traditional individual therapy within the clinic. The current findings support continued implementation of single-session therapy.
Examination of Personality Traits as Predictors of Career Success

This study was designed to investigate the relationships between personality traits (Big Five Personality Traits) and career success and aimed to determine if the personality traits can predict career success variables. Personality traits are measured by five characteristics: neuroticism, extroversion, openness, agreeableness and conscientiousness, whereas career success comprise of objective or extrinsic (e.g., pay) and subjective or intrinsic (e.g., job satisfaction and career satisfaction) 118 employees from the general sector located in Damascus are given questionnaires and their responses are analyzed by SPSS program. Results show that, all personality dimensions are significantly related to career success but with different levels.
The relation between cultural values and condom use among Latino gay men

ABSTRACT Latino men who have sex with men (MSM) are the second largest group to be affected by human immunodeficiency virus (HIV). Latino cultural values may influence sexual behaviors that can result in HIV acquisition. This study explored the relations among traditional machismo, caballerismo, familismo, unprotected anal intercourse (UAI), and the appeal of sex without condoms (ASWC) among Latino gay men. Results indicated that higher levels of familial honor and traditional machismo predicted higher levels of ASWC. These findings suggest that exploration of gender roles and family are important factors to be included in HIV prevention and intervention programs.
#familygoals: Family Influencers, Calibrated Amateurism, and Justifying Young Digital Labor

Following in the celebrity trajectory of mommy bloggers, global micro-microcelebrities, and reality TV families, family Influencers on social media are one genre of microcelebrity for whom the “anchor” content in which they demonstrate their creative talents, such as producing musical covers or comedy sketches, is a highly profitable endeavor. Yet, this commerce is sustained by an undercurrent of “filler” content wherein everyday routines of domestic life are shared with followers as a form of “calibrated amateurism. ” Calibrated amateurism is a practice and aesthetic in which actors in an attention economy labor specifically over crafting contrived authenticity that portrays the raw aesthetic of an amateur, whether or not they really are amateurs by status or practice, by relying on the performance ecology of appropriate platforms, affordances, tools, cultural vernacular, and social capital. In this article, I consider the anatomy of calibrated amateurism, and how this practice relates to follower engagement and responses. While some follower responses have highlighted concerns over the children’s well-being, a vast majority overtly signal their love, support, and even envy toward such parenting. I draw on ethnographically informed content analysis of two group of family Influencers on social media to illustrate the enactment and value of calibrated amateurism in an increasingly saturated ecology and, investigate how such parents justify the digital labor in which their children partake to produce viable narratives of domestic life.