Miracle-dz/UniFAR-FTUs huggingface dataset:
Distinct phenotypes distinguish the molecular classes of Angelman syndrome

BACKGROUND Angelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted domain located on 15q11-q13. Most patients acquire AS by one of five mechanisms: (1) a large interstitial deletion of 15q11-q13; (2) paternal uniparental disomy (UPD) of chromosome 15; (3) an imprinting defect (ID); (4) a mutation in the E3 ubiquitin protein ligase gene (UBE3A); or (5) unidentified mechanism(s). All classical patients from these classes exhibit four cardinal features, including severe developmental delay and/or mental retardation, profound speech impairment, a movement and balance disorder, and AS specific behaviour typified by an easily excitable personality with an inappropriately happy affect. In addition, patients can display other characteristics, including microcephaly, hypopigmentation, and seizures. METHODS We restricted the present study to 104 patients (93 families) with a classical AS phenotype. All of our patients were evaluated for 22 clinical variables including growth parameters, acquisition of motor skills, and history of seizures. In addition, molecular and cytogenetic analyses were used to assign a molecular class (I-V) to each patient for genotype-phenotype correlations. RESULTS In our patient repository, 22% of our families had normal DNA methylation analyses along 15q11-q13. Of these, 44% of sporadic patients had mutations withinUBE3A, the largest percentage found to date. Our data indicate that the five molecular classes can be divided into four phenotypic groups: deletions, UPD and ID patients,UBE3A mutation patients, and subjects with unknown aetiology. Deletion patients are the most severely affected, while UPD and ID patients are the least. Differences in body mass index, head circumference, and seizure activity are the most pronounced among the classes. CONCLUSIONS Clinically, we were unable to distinguish between UPD and ID patients, suggesting that 15q11-q13 contains the only significant maternally expressed imprinted genes on chromosome 15.
The Wage Expectations of European College Students

Expected earnings and expected returns to education are seen by labor economists as a major determinant of educational attainment. In spite of this, the empirical knowledge about expectations and their formation is scarce. In this paper we report the results of the first systematic study of the wage expectations of European college students. Our data are based on the replies to the same questionnaire by more than 6000 college students all over Europe. We study the determinants of wage expectations and expected employment probabilities, the variability of these expectations within a field of study and their variation across universities and fields. We also examine the trade-off between expected starting wages and wage growth. In the final section of the paper, we contrast expected returns to education with actual returns estimated from country-specific micro-data. In line with U.S. studies we find that students overestimate returns to education.
THE INTERTEMPORAL DIMENSION OF NEOCLASSICAL PRODUCTION THEORY

The aim of this survey paper is to provide a guide to the literature on optimal dynamic factor demands to the non-specialist reader interested in applied work. We start with the distinction between variable and quasi-fixed factors of production and use these to characterize the firm's temporary equilibrium. We then review the optimal intertemporal behaviour of the firm, using the notion of adjustment costs as a means to solve the firm's optimization problem. This process gives rise to a system of interrelated dynamic factor demands in a flexible accelerator format. Theoretical difficulties and empirical limitations of this model are discussed. This fact leads us to review the theory of intertemporal duality. We next analyze the issue of expectations in this class of dynamic models. A section reviewing the empirical work on dynamic factor demands follows, after which we offer some concluding remarks. Copyright 1996 by Blackwell Publishers Ltd
Vulnerability: A Micro Perspective

High downside risk to income and livelihoods is part of life in developing countries. Climatic risks, economic fluctuations, and a large number of individual-specific shocks leave these households vulnerable to severe hardship. The paper explores the links between risk, vulnerability and poverty, taking a micro-level perspective. Risk does not just result in variability in living standards. There is increasing evidence that the lack of means to cope with risk and vulnerability is in itself a cause of persistent poverty and poverty traps. Risk results in strategies that avoid taking advantage of profitable but risky opportunities. Shocks destroy human, physical and social capital limiting opportunities further. The result is that risk is an important constraint on broad-based growth in living standards in many developing countries. It is a relatively ignored part when designing anti-poverty policies and efforts to attain the Millennium Development Goals. The paper discusses conceptual issues, the evidence and the policy implications.
Changes in the Terms of Trade and Canada's Productivity Performance

Using new data from Statistics Canada, the paper shows that the productivity performance of the business sector of the Canadian economy has been reasonably satisfactory over the past 46 years. In particular, traditional gross income Total Factor Productivity (TFP) growth averaged 1.14 percentage points per year over the period 1961-2006 and when a net income framework was used, TFP growth averaged 1.26 percentage points per year. The focus of the study is on the real income generated by the business sector of the Canadian economy. Two concepts of income are used: a gross concept that includes depreciation as a part of income and a more appropriate net concept where depreciation is excluded from income. In both the gross and net income frameworks, the growth of quality adjusted labour input growth was the main driver of growth in real income followed by TFP growth, followed by growth in capital input and then by falling real import prices. However, in recent years, the contribution of falling real import prices turned out to be more than twice as important as capital deepening. The study encountered many data problems which should be addressed in future work on Canadian business sector productivity performance.
Staphylococcus Aureus Nasal Carriage: Role in Continuous Ambulatory Peritoneal Dialysis-Associated Infections

The primary reservoir of Staphylacaccus aureus is the anterior nares (1). From the nares, the organism can be spread to the skin and into the air (1). Persons carrying large numbers of S. aureus in their anterior nares are more likely to disseminate the organism than those with only a few colonies isolated from quantitative cultures (1-3). Prevalence surveys of healthy persons have reported carriage rates of 110/065% (4). Similar studies of persons with chronic breaks in their skin related to illness (e.g., eczema) or to foreign bodies such as needles or catheters (insulin-dependent diabetics, intravenous drug abusers, and patients on hemodialysis or peritoneal dialysis) have reported carriage rates of 32% -81% (5-7). The role of nasal carriage in the subsequent development of S. aureus infection has been a subject of investigated since the 1950s. Studies of surgical patients demonstrated rates of wound infection in nasal carriers that were 2.4-7.1 times higher than those in noncarriers (Table 1) (2,3,8-13). Phage typing and antimicrobial susceptibility testing indicated that 45%-100% of the patients were infected with strains carried in their nares (2,3,8-13). Patients on hemodialysis have high rates of both S. aureus nasal carriage and infection. Rates of S. aureus nasal carriage appear to vary with the duration of hemodialysis (from 44% at less than one month to 75% at 13-18 months) (7) and with the population evaluated (32%-81 %) (6,7,1416). Furthermore, S. aureus accounts for 700/0-92% of vascular access site infections (6). In their classic study Yu et al. demonstrated that patients who were nasal carriers of S. aureus were at increased risk of staphylococcal infec
Polymorphisms in Genes Related to Oxidative Stress (CAT, MnSOD, MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer

Purpose: Because radiotherapy exerts cytotoxic effects via generation of massive oxidative stress, we hypothesized that catalase, manganese superoxide dismutase, myeloperoxidase (MPO), and endothelial nitric oxide synthase (eNOS) genotypes might result in greater risk of radiotoxicity. Experimental Design: Cases (n = 446) were Caucasian women with breast cancer who received radiotherapy following lumpectomy. Genotypes were determined by matrix-assisted laser desorption/ionization time-of-flight. The development of acute reactions (moist desquamation) associated with genotypes was modeled using the Cox proportional hazards model, accounting for cumulative biologically effective radiation dose. Results: Genotypes associated with higher levels of reactive oxygen species (ROS) were not associated with risk of radiotoxicity. However, relationships between overweight/obesity [body mass index (BMI), >25] and radiotoxicity risk seemed to be modified by eNOS and MPO genotypes associated with higher generation of nitric oxide and ROS, respectively. Women with high BMI (>25) and eNOS GG genotypes were at more than a 6-fold increase in risk (hazard ratio, 6.39; 95% confidence interval, 2.53-16.15) compared with those with BMI <25, and for MPO, those with high BMI (>25) and GG genotypes also had greater risk of radiotoxicity (hazard ratio, 3.61; 95% confidence interval, 1.78-7.35) compared with those with BMI <25. Overweight/obesity was not a strong risk factor among women with other eNOS and MPO genotypes. Exploratory analysis using classification and regression trees indicated that total number of risk alleles contributed, in part, to acute toxicity outcomes among a subgroup of women. Conclusions: Associations between BMI and radiotoxicity risk may be most apparent among women with genotypes related to higher levels of oxidative stress. Regression trees may be useful in future studies to examine the contributions of multiple factors to individual susceptibility to adverse effects of cancer treatment.
Mammalian defensins: structures and mechanism of antibiotic activity

Antibiotic peptides are important effector molecules in host‐parasite interactions throughout the living world. In vertebrates, they function in first‐line host defense by antagonizing a wide range of microbes including bacteria, fungi, and enveloped viruses. The antibiotic activity is thought to be based on their cationic, amphipathic nature, which enables the peptides to impair vital membrane functions. Molecular details for such activities have been elaborated with model membranes; however, there is increasing evidence that these models may not reflect the complex processes involved in the killing of microbes. For example, the overall killing activity of the bacterial peptide antibiotic nisin is composed of independent activities such as the formation of target‐mediated pores, inhibition of cell‐wall biosynthesis, formation of nontargeted pores, and induction of autolysis. We studied the molecular modes of action of human defense peptides and tried to determine whether they impair membrane functions primarily and whether additional antibiotic activities may be found. We compared killing kinetics, solute efflux kinetics, membrane‐depolarization assays, and macromolecular biosynthesis assays and used several strains of Gram‐positive cocci as test strains. We found that membrane depolarization contributes to rapid killing of a significant fraction of target cells within a bacterial culture. However, substantial subpopulations appear to survive the primary effects on the membrane. Depending on individual strains and species and peptide concentrations, such subpopulations may resume growth or be killed through additional activities of the peptides. Such activities can include the activation of cell‐wall lytic enzymes, which appears of particular importance for killing of staphylococcal strains.
Not for the Profit, But for the Satisfaction? - Evidence on Worker Well-Being in Non-Profit Firms

Non-profit firms are often seen as workplaces where people not only work for money, but also find substantial satisfaction in the kind of work they do. Studies looking at compensating wage differentials, however, have only found limited support for this notion. In this paper, a novel approach is undertaken to compare the utilities of non-profit and for-profit employees, by using measures of job satisfaction. The results show that in both the United States and Great Britain over the 1990's, non-profit workers were generally more satisfied with their jobs than for-profit workers. The robustness of the results is explored in detail, and implications for the governance of non-profit firms are shortly discussed. Copyright 2005 Blackwell Publishing Ltd.
Appropriation, Formal and Informal Sectors, and Efficient Endowment Distribution

By adding an informal sector whose output is not subject to appropriative interactions and assuming complementarity in the inputs for market production, this paper investigates how possible asymmetries in conflict affect the allocation of resources. It is shown that when the existing gap in relative appropriative skills is being closed, more resources are allocated to appropriative activities in the economy. We are, in this case, more likely to see a reduction in market activities but an increase in home activities. A poorer party is a natural producer rather than a natural fighter, which is the usual characterization of a less endowed party in the conflict analysis. By conducting a welfare analysis, this paper shows that a market-output-maximizing initial distribution of resources endowment is such that when one party has a comparative advantage in market production over appropriation, its initial fraction of total resource endowment should be greater than its relative productivity in market production.
Activation of NADPH oxidase in Alzheimer's disease brains.

The present study is the first to show that superoxide (O(-)(2)) forming NADPH oxidase is activated in Alzheimer's disease (AD) brains by demonstrating the marked translocation of the cytosolic factors p47-phox and p67-phox to the membrane. In conjunction with a recent in vitro study showing that amyloid beta activates O(-)(2) forming NADPH oxidase in microglia, where these phox proteins are localized in this study, the present results suggest that, in AD, NADPH oxidase is activated in microglia, resulting in the formation of reactive oxygen species which can be toxic to neighboring neurons in AD.
Nonnegative Wealth, Absence of Arbitrage, and Feasible Consumption Plans

A restriction to nonnegative wealth is sufficient to preclude all arbitrage opportunities in financial models that have risk neutral probabilities that are valid for all simple strategies. Imposing nonnegative wealth does not constrain agents from making the choice they would make under the standard integrability condition. This conclusion does not depend on whether the markets are complete.
Understanding college drinking: assessing dose response from survey self-reports.

OBJECTIVE One of the most difficult challenges confronting alcohol researchers is the assessment of specific risks associated with specific drinking levels (one, two or three or more drinks). In this article, a model-based method is presented that provides specific measures of dose, exposures and risks related to drinking and enables adequate assessment of dose-response relationships using survey data. METHOD Survey data collected from 2,102 college students on drinking patterns and related problems were analyzed using a mathematical model that extracts separable measures of dose (number of drinks consumed per occasion) and exposures (numbers of occasions) for every respondent. A constrained class of quadratic risk models was estimated that relates units of exposure at each dose (e.g., number of occasions drinking five drinks) to problem outcomes (e.g., number of hangovers). The resulting dose-response functions provided an estimate of the rate of problems produced on each occasion of drinking at a given drinking level. Population risks were estimated by reintegrating dose response with the population distribution of drinking exposures. RESULTS The distribution of drinking exposures among college drinkers was markedly peaked at a modal dose of two drinks, with variations in light and heavy drinking between demographic groups. Multivariate analyses showed relative rates of heavier drinking were greatest among white male freshmen and unrelated to residential settings. Most drinking problems showed a marked dose-response relationship to drinking levels. Population risks, however, were typically unimodal, with many problems reported at moderate drinking levels (two or three drinks). CONCLUSIONS Distributed across a large number of drinkers and drinking occasions, problems reported by students occurred most often at moderate drinking levels (two to three drinks). Nevertheless, heavier drinking remained substantively related to many drinking problems. These observations encourage aview of college drinking that supports interventions related to both moderate and heavy drinking.
Goodwill, triggering events, and impairment accounting

Purpose - The purpose of this paper is to examine the assessment process for goodwill impairment. The paper evaluates compliance with goodwill impairment tests required under the Statement of Financial Accounting Standard 142 and International Accounting Standard 36, highlighting challenges encountered in complying with these standards. The paper explores areas in which improvements might be made in both goodwill-impairment compliance and disclosures and identifies areas for future research. Design/methodology/approach - The method is exploratory in nature. A combination of data collection, analysis, and interpretation is employed. Findings - The research highlights a number of features of the impairment testing and measurement process that make implementation a challenge. Triggering events are many and vary greatly in significance and severity. Different valuation models are used and there is little conformity in the selection of discount rates. In some cases, though not consistently, control premiums are used to enhance the indicated market values of reporting units. Some firms may even deny the need for an indicated impairment charge. In all of the cases examined, the paper notes the need for judgmental estimates and the possibility that these estimates might be managed to alter or avoid goodwill impairments, limiting the comparability of results across firms. Practical implications - The findings will provide feedback to standard setters and practicing professionals in an effort to improve practice. For investors and creditors, the results should prove helpful in evaluating the likelihood of goodwill impairments. For researchers, the paper identifies certain questions that may provide fruitful avenues for further investigation. Originality/value - The findings are based on an examination of a large sample of current filings of public companies that has yet to be performed. The observed richness and variation in the practices employed and disclosures provided both broaden and deepen our understanding of goodwill impairment accounting.
Modelling Poverty in Sub-Saharan Africa and Policy Implications for Poverty Reduction: Evidence from Ghana

ABSTRACT This study examines the causes of poverty in sub-Saharan Africa by reviewing the relevant literature on poverty and using the Ghanaian economy to shed light on the poverty situation. Using data from the 1998–99 Ghana living standards survey and probit and OLS models, we find that higher levels of education unambiguously reduce the incidence and depth of poverty. Household characteristics, type of economic activity, physical capital ownership, and financial capital accessibility are all important determinants of poverty. These results are true not only for our national model but also for the disaggregated model for wage employment and self-employment.
Lotteries for Education: Windfall or Hoax?

THE 1980s AND 1990s have seen a flurry of lottery adoptions. As declining rates of federal fund transfers and increasing numbers of tax revolts squeeze states’ budgets (Sears and Citrin 1982), state legislatures have looked for relatively painless ways to raise revenue. To legislators and governors, lotteries prove to be particularly attractive methods of producing revenue because they are a voluntary form of taxation: individuals pay the tax because they want to pay the tax. State policy makers have attempted to make the lottery even more palatable to voters by earmarking the funds for a particular purpose. For instance, in Indiana, the lottery’s proceeds go to a “Build Indiana” fund to repair the state’s transportation infrastructure. Education, however, has been the most popular recipient of lottery funds. Historically, states have played a major role in funding schools, a role that is consistent with tradition and, therefore, deemed acceptable. Further, state funding can partially counter the regressive
A comprehensive electrothermal GaN HEMT model including nonlinear thermal effects

A novel nonlinear high-power Gallium Nitride (GaN) High Electron-Mobility Transistor (HEMT) equivalent circuit model is described. Features of the model include a nonlinear thermal subnetwork extracted using straightforward measurement techniques, and a modified Angelov/Chalmers single function drain current equation. The model can very accurately predict the Pulsed IV (PIV) curves at different pulse widths and duty cycles from isothermal up to the safe-operating area (SOA) limit, with high voltage drain-source pulses. Large-signal one-tone-test results are presented and show good fidelity with measurements for the first three harmonics, as well as accurate prediction of bias point shifting with increasing input power.
The Influence of COX-2 Single Nucleotide Polymorphisms on Abdominal Aortic Aneurysm Development and the Associated Inflammation

Introduction: Cyclooxygenase (COX)-2 influences cardiovascular disease and serum concentration of high-sensitivity C-reactive protein (hsCRP). The study purpose was to determine the influence of single nucleotide polymorphisms (SNPs) of the COX-2 gene on abdominal aortic aneurysm (AAA) development and serum hsCRP concentrations. Patients and Methods: Patients with AAA and disease-free controls were recruited. High-sensitivity C-reactive protein was measured by an enzyme-linked immunosorbent assay (ELISA) test. The distributions of COX-2 SNPs were investigated (rs20417 and rs4648307). The influence of the COX-2 SNPs on the hsCRP serum concentration was assessed.Results: A total of 230 patients with AAA and 279 controls were included. No difference was found in the genotype distribution of the COX-2 SNPs rs20417 (P = .26) and rs4648307 (P = .90). They did not influence the hsCRP concentration (P = .24 and P = .61, respectively). Haplotype analysis of COX-2 SNPs revealed no difference. Conclusion: These COX-2 SNPs do not play any role in AAA development and do not influence serum hsCRP. These results differentiate AAA development from atherosclerotic diseases.