Miracle-dz/UniFAR-FTUs huggingface dataset:
HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

Hypoxanthine phosphoribosyltranferase (HPRT) deficiency is an X-linked disorder of purine salvage that ranges phenotypically from hyperuricaemia to Lesch–Nyhan Syndrome. Molecular testing is necessary to identify female carriers within families as a prelude to prenatal diagnosis. During the period 1999–2010 the Purine Research Laboratory studied 106 patients from 68 different families. Genomic sequencing revealed mutations in 88% of these families, 24 of which were novel. In eight patients, exon sequencing was not informative. Copy-DNA analysis in one patient revealed an insertion derived from a deep intronic sequence with a genomic mutation flanking this region, resulting in the creation of a false exon. Carrier testing was performed in 21 mothers of affected patients, out of these, 81% (17) were found to be carriers of the disease-associated mutation. Our results confirm the extraordinary variety and complexity of mutations in HPRT deficiency. A combination of genomic and cDNA sequencing may be necessary to define mutations.
Hyperexpression of recombinant CFTR in heterologous cells alters its physiological properties

Mohammad-Panah, Raha, Sophie Demolombe, David Riochet, Veronique Leblais, Gildas Loussouarn, Helene Pollard, Isabelle Baró, and Denis Escande. Hyperexpression of recombinant CFTR in heterologous cells alters its physiological properties. Am. J. Physiol. 274 (Cell Physiol. 43): C310–C318, 1998. —We investigated whether high levels of expression of the cystic fibrosis transmembrane conductance regulator (CFTR) would alter the functional properties of newly synthesized recombinant proteins. COS-7, CFPAC-1, and A549 cells were intranuclearly injected with a Simian virus 40-driven pECE-CFTR plasmid and assayed for halide permeability using the 6-methoxy-N-(3-sulfopropyl)quinolinium fluorescent probe. With increasing numbers of microinjected pECE-CFTR copies, the baseline permeability to halide dose dependently increased, and the response to adenosine 38,58-cyclic monophosphate (cAMP) stimulation decreased. In cells hyperexpressing CFTR, the high level of halide permeability was reduced when a cell metabolism poisoning cocktail was applied to decrease intracellular ATP and, inversely, was increased by orthovanadate. In CFPAC-1 cells investigated with the patch-clamp technique, CFTR hyperexpression led to a time-independent nonrectifying chloride current that was not sensitive to cAMP stimulation. CFPAC-1 cells hyperexpressing CFTR exhibited no outward rectifying chloride current nor inward rectifying potassium current either spontaneously or under cAMP stimulation. We conclude that hyperexpression of recombinant CFTR proteins modifies their properties inasmuch as 1) CFTR channels are permanently activated and not susceptible to cAMP regulation and 2) they lose their capacity to regulate heterologous ionic channels.
Surveillance of respirable crystalline silica dust using OSHA compliance data (1979-1995).

BACKGROUND The objective of this work was to estimate the percentage of workers by industry that are exposed to defined concentrations of respirable crystalline silica dust. METHODS An algorithm was used to estimate the percentage of total workers exposed to crystalline silica in 1993 at concentrations of at least 1, 2, 5, and 10 times the National Institute for Occupational Safety and Health (NIOSH) Recommended Exposure Limit (REL) of 0.05 mg/m3. Respirable crystalline silica air sampling data from regulatory compliance inspections performed by the Occupational Safety and Health Administration (OSHA), for the years 1979-1995, and recorded in the Integrated Management Information System (IMIS) were used to estimate exposures. Therefore, this work does not include industries such as mining and agriculture that are not covered by OSHA. The estimates are stratified by Standard Industrial Classification (SIC) codes. RESULTS This work found that some of the highest respirable crystalline silica dust concentrations occurred in construction (masonry, heavy construction, and painting), iron and steel foundries (casting), and in metal services (sandblasting, grinding, or buffing of metal parts). It was found that 1.8% (13,800 workers) of the workers in SIC 174--Masonry, Stonework, Tile Setting, and Plastering--were exposed to at least 10 times the NIOSH REL. For SIC 162--Heavy Construction, Except Highway and Street Construction--this number is 1.3% (6,300 workers). SIC 172--Painting and Paper Hanging--which includes construction workers involved in sandblasting was found to have 1.9% (3,000 workers) exposed to at least 10 times the NIOSH REL. The industry that was found to have the highest percentage of workers (6%) exposed to at least the NIOSH REL was the cut stone and stone products industry. CONCLUSION Not enough is being done to control exposure to respirable crystalline silica. Engineering controls should be instituted in the industries indicated by this work.
Left ventricular structure and function in children infected with human immunodeficiency virus: the prospective P2C2 HIV Multicenter Study. Pediatric Pulmonary and Cardiac Complications of Vertically Transmitted HIV Infection (P2C2 HIV) Study Group.

BACKGROUND The frequency of, course of, and factors associated with cardiovascular abnormalities in pediatric HIV are incompletely understood. METHODS AND RESULTS A baseline echocardiogram (median age, 2.1 years) and 2 years of follow-up every 4 months were obtained as part of a prospective study on 196 vertically HIV-infected children. Age- or body surface area-adjusted z scores were calculated by use of data from normal control subjects. Although 88% had symptomatic HIV infection, only 2 had CHF at enrollment, with a 2-year cumulative incidence of 4.7% (95% CI, 1.5% to 7.9%). All mean cardiac measurements were abnormal at baseline (decreased left ventricular fractional shortening [LV FS] and contractility and increased heart rate and LV dimension, mass, and wall stresses). Most of the abnormal baseline cardiac measurements correlated with depressed CD4 cell count z scores and the presence of HIV encephalopathy. Heart rate and LV mass showed significantly progressive abnormalities, whereas FS and contractility tended to decline. No association was seen between longitudinal changes in FS and CD4 cell count z score. Children who developed encephalopathy during follow-up had depressed initial FS, and FS continued to decline during follow-up. CONCLUSIONS Subclinical cardiac abnormalities in HIV-infected children are common, persistent, and often progressive. Dilated cardiomyopathy (depressed contractility and dilatation) and inappropriate LV hypertrophy (elevated LV mass in the setting of decreased height and weight) were noted. Depressed LV function correlated with immune dysfunction at baseline but not longitudinally, suggesting that the CD4 cell count may not be a useful surrogate marker of HIV-associated LV dysfunction. However, the development of encephalopathy may signal a decline in FS.
A calcium‐channel blocker, benidipine, improves forearm reactive hyperemia in patients with essential hypertension

The pathophysiological role of endothelial cells is important in the mechanism of progression of atherosclerosis and improvement of endothelial function may be important for cardiovascular morbidity. Calcium antagonists are reported to have protective effects on the endothelium in vitro and in vivo. In this clinical study, we investigated the effect of calcium antagonist, benidipine, on endothelial function in the patients with essential hypertension, which causes endothelial dysfunction. Twenty‐five patients with hypertension without other risk factors for atherosclerosis were treated with monotherapy (8 mg benidipine, n = 25) for 8 weeks. Blood pressure was reduced significantly. Endothelial function was evaluated using forearm blood flow by strain‐gauge plethysmography after 8 weeks of treatment. Changes in vasodilator response to reactive hyperemia were significantly improved (p<0.01), while the response to nitroglycerin was not changed, suggesting the improvement of endothelial function. Moreover, we focused on hepatocyte growth factor (HGF), which is a novel angiogenic growth factor with an anti‐apoptotic action on endothelial cells, and evaluated involvement of HGF in improvement of endothelial function. Serum HGF concentration in subjects treated with benidipine was significantly elevated at 8 weeks (p<0.05). Overall, these results demonstrated that benidipine improved endothelial dysfunction in patients with hypertension. Interestingly, an increase in serum HGF concentration by benidipine might contribute to the improvement of endothelial dysfunction.
Campaign Foci in European Parliamentary Elections: Determinants and Consequences

Personalization of politics is a major topic in discussions about elections and electoral behavior. Does the personalization of politics imply an individualization of campaigning as well? Up to now, this question has not been sufficiently dealt with. On basis of the 2009 European Election Candidate Study carried out in all 27 member countries of the EU, three main research questions are addressed: (1) Are there significant differences with regard to candidate- and party-centered campaign strategies between countries or party families? (2) Which factors account for such differences? (3) Do preferences for a campaign strategy have consequences for campaign efforts of candidates and the means they use? Results show that the dominant feature is party-centered campaigning, but close to one-fifth of the candidates prefer candidate-centered campaigning. A number of hypotheses are tested with a multi-level model showing that candidates react to electoral and institutional incentives. It is a strategic choice to go for a more personalized campaign. This choice has consequences for campaign efforts and means used.
Temperature, aggression, and the negative affect escape model.

This article addresses Bell's (1992) comments on Anderson's (1989) review of the temperature-aggression literature. At a global level, all agree that geographic region studies and most time period studies do not cleanly address the question ofthe functional shape relating temperature to aggression. In addition, all agree that the negative affect escape model warrants additional empirical investigation. At a more specific level, however, numerous inaccuracies and misinterpretations are noted and corrected. The conclusions of the original review are confirmed
Creativity and Entrepreneurial Intention in Young People

The authors examine the link between creativity and entrepreneurial intention in young people and the roles that family and education may play in encouraging this link. The results from a survey of 180 undergraduate business school students show that the more creative young people consider themselves to be, the higher are their entrepreneurial intentions. Students' creativity also fully mediates the effect of family support for creativity on their entrepreneurial intention. Support for creativity in the university is found to have no effect on their creativity or on their entrepreneurial intention. Entrepreneurship course attendance moderates the effect of individual creativity on entrepreneurial intention.
Neighborhood Socioeconomic Status and Health: Context or Composition?

Does neighborhood socioeconomic status (SES) have a significant positive effect on health over and above the personal and household socioeconomic status of the residents who live there, and, if it does, what is its relative importance compared to an individual's own SES? Resolution of this question has been impeded by lack of conceptual clarity in the definitions of socioeconomic status on the micro– and macro–levels, and unreliable and noncomprehensive adjustment for micro–level socioeconomic status. Using the Community, Crime and Health Survey (CCH), based on a representative sample of Illinois households with linked census tract information, we find that, with adjustment for personal socioeconomic status, residents of socioeconomically disadvantaged neighborhoods have significantly higher levels of physical impairment than do residents of more advantaged neighborhoods. The neighborhood effect is small compared to individual socioeconomic status, especially education, employment status, household income, and economic hardship, all of which have larger associations with health than does neighborhood socioeconomic status (measured as home ownership, college–educated adults, and poverty). in comparison, home ownership on the micro–level does not have a significant effect on physical functioning. We conclude that about 40 percent of the association between neighborhood socioeconomic status and individual health is contextual and about 60 percent is compositional.
Absence Makes the Mind Grow Sharper: Effects of Element Omission on Subsequent Recall

The authors investigate the memorial consequences of deliberately omitting crucial elements from an advertisement. Research on the self-generation effect in cognitive psychology indicates that such element omission may actually lead to an improvement in recall. Support for this perspective is obtained in a series of experiments that explores the effects of feature omission in the context of both overt omission (in which the omission is highlighted by the advertiser) and implicit omission (in which the omission, though not highlighted in the advertisement, is noticed because of prior expectations for that ad type). Even under highly constrained processing conditions (e.g., exposure times as short as four seconds), an advertisement that omits a key element is shown to produce better recall than an equivalent advertisement that contains the element. The authors find that this recall improvement occurs along dimensions that are specifically related to the omitted element; therefore, leaving out an element related only to the product category (but not the brand) produces an improvement only in category recall, whereas brand recall is improved by the omission of an element related to the brand name. The authors discuss theoretical and managerial implications of these findings.
Assessment of Hyperacusis in Egyptian patients: Evaluation of the Arabic version of the Khalfa questionnaire

Abstract Objectives: Hyperacusis appears to be a subjective phenomenon, which is not easily defined or quantified by objective measurements. The primary aim of this work was to evaluate the Arabic version of the Khalfa questionnaire for hyperacusis on a sample of normal hearing Egyptians complaining of hyperacusis. The secondary aim was to compare the audiological criteria of this group of hyperacusis patients (with or without tinnitus) with a control group of similar age and gender. Study design: The study group comprised 60 adult patients (age range 19–45 years) having normal hearing and complaining of hyperacusis with or without tinnitus. The control group comprised 20 normal hearing age and gender-matched individuals. All patients were subjected to full history-taking, otological examination, pure tone audiometry, immittance audiometry, uncomfortable loudness levels (ULLs) assessment, a transient evoked otoacoustic emissions (TEOAEs) test and, in addition, to the Arabic version of the Khalfa hyperacusis questionnaire. Results: The uncomfortable loudness levels indicated a markedly contracted dynamic range in the hyperacusis group, with the majority of individuals showing ULLs less than 90dB HL. Hyperacusis patients with tinnitus showed significantly lower TEOAEs amplitudes, with overall echo level and reproducibility percent lower than for hyperacusis patients without tinnitus or for the control group. Hyperacusis patients had higher means of total, attentional, social, and emotional scores on the Khalfa questionnaire compared to the control group. The emotional parameter of the questionnaire had the highest score for the hyperacusis patients. Both the emotional and attentional dimension scores were higher in females, while attentional scores were higher for males. The total and social dimensions were affected by age. Conclusions: The emotional impact of noise exposure was more severe than the attentional and social impact in hyperacusis patients. There was a gender difference evident in the results of the Khalfa questionnaire in hyperacusis patients. The Arabic version of the Khalfa hyperacusis questionnaire seems to be a fairly effective tool for the assessment of hyperacusis patients.
PRIORI ESTIMATES AND REGULARITY OF SOLUTIONS TO BOUNDARY-DEGENERATE ELLIPTIC LINEAR SECOND-ORDER PARTIAL DIFFERENTIAL EQUATIONS

We establish Schauder a priori estimates and regularity for solutions to a class of boundary-degenerate elliptic linear second-order partial differential equations. Furthermore, given a C∞-smooth source function, we prove C∞-regularity of solutions up to the portion of the boundary where the operator is degenerate. Boundary-degenerate elliptic operators of the kind described in our article appear in a diverse range of applications, including as generators of affine diffusion processes employed in stochastic volatility models in mathematical finance [10, 25], generators of diffusion processes arising in mathematical biology [3, 11], and the study of porous media [7, 8].
Metal nanoparticle-induced micronuclei and oxidative DNA damage in mice

Several mechanisms regarding the adverse health effects of nanomaterials have been proposed. Among them, oxidative stress is considered to be one of the most important. Many in vitro studies have shown that nanoparticles generate reactive oxygen species, deplete endogenous antioxidants, alter mitochondrial function and produce oxidative damage in DNA. 8-Hydroxy-2'-deoxyguanosine is a major type of oxidative DNA damage, and is often analyzed as a marker of oxidative stress in human and animal studies. In this study, we focused on the in vivo toxicity of metal oxide and silver nanoparticles. In particular, we analyzed the induction of micronucleated reticulocyte formation and oxidative stress in mice treated with nanoparticles (CuO, Fe3O4, Fe2O3, TiO2, Ag). For the micronucleus assay, peripheral blood was collected from the tail at 0, 24, 48 and 72 h after an i.p. injection of nanoparticles. Following the administration of nanoparticles by i.p. injection to mice, the urinary 8-hydroxy-2'-deoxyguanosine levels were analyzed by the HPLC-ECD method, to monitor the oxidative stress. The levels of 8-hydroxy-2'-deoxyguanosine in liver DNA were also measured. The results showed increases in the reticulocyte micronuclei formation in all nanoparticle-treated groups and in the urinary 8-hydroxy-2'-deoxyguanosine levels. The 8-hydroxy-2'-deoxyguanosine levels in the liver DNA of the CuO-treated group increased in a dose-dependent manner. In conclusion, the metal nanoparticles caused genotoxicity, and oxidative stress may be responsible for the toxicity of these metal nanoparticles.
Market Reaction to Security Breach Announcements: Evidence from South Korea

Event studies have been used to assess the financial impact of cyber incidents on firms since the methodology is believed to reflect tangible, intangible and potential gains/losses. While most prior studies examined the impact of security breach announcements on the United States? market reaction, our study examines the South Korean market's reaction to similar events. Investor protection theory suggests that different markets react differently to similar events. Specifically stronger investor protection leads to lower information asymmetry, which in turn results in a more efficient market valuation. Korea's investor protection index is lower than that of the U.S., suggesting higher information asymmetry and less efficient market valuation. Our study found that the Korean market reaction to cyber incidents was relatively slow, supporting the above assertion. In addition, regulated industries experienced significant negative abnormal returns post-2007 when privacy laws were enacted in South Korea. The study also found that Korea? s market reaction to security incident announcements varied over time as the nature of cyber attacks and attackers changed. For example, while the negative market reaction to denial-of-service and corruption of data events were significant pre-2007, the negative reaction to disclosure of private information was significant post-2007.
Optimal follow-up time after continuous renal replacement therapy in actual renal failure patients stratified with the RIFLE criteria.

BACKGROUND We wished to determine the optimal duration of follow-up for patients with acute renal failure (ARF) treated with continuous renal replacement therapy (CRRT) and tested the hypothesis that a 6 month follow-up would be the minimum to catch most of the mortalities. In addition, we evaluated the association between mortality and the RIFLE classification in the same patients. METHODS We analysed the data of 8152 consecutive patients who had been admitted to the intensive care unit (ICU) of a Swedish university hospital between 1995 and 2001. Of that population, 207 patients were treated with CRRT, excluding 16 treated for non-renal indications. RESULTS ICU mortality in this cohort was 34.8% and 30 day and in-hospital mortalities were 45.9% and 50.2%, respectively. The cohort's all-cause mortality 6 months after inclusion was 59.9%, but 54.6% died as early as after 60 days. Patients in the more severe RIFLE category, F (failure), had a 30 day mortality of 57.9% compared with 23.5% for those in the RIFLE-R (risk) category and 22.0% for RIFLE-I (injury) patients. CONCLUSIONS In our opinion, a 60 day follow-up is sufficient to catch the majority of deaths in ARF patients treated with CRRT. The patients in the RIFLE-F category had a significantly higher mortality than RIFLE-R and -I patients.
Effect of reducing the n-6:n-3 long-chain PUFA ratio during pregnancy and lactation on infant adipose tissue growth within the first year of life: an open-label randomized controlled trial.

BACKGROUND The composition of long-chain PUFAs (LCPUFAs) in the maternal diet may affect obesity risk in the mother's offspring. OBJECTIVE We hypothesized that a reduction in the n-6 (omega-6):n-3 (omega-3) LCPUFA ratio in the diet of pregnant women and breastfeeding mothers may prevent expansive adipose tissue growth in their infants during the first year of life. DESIGN In a randomized controlled trial, 208 healthy pregnant women were randomly assigned to an intervention (1200 mg n-3 LCPUFAs as a supplement per day and a concomitant reduction in arachidonic acid intake) or a control diet from the 15th wk of pregnancy to 4 mo of lactation. The primary outcome was infant fat mass estimated by skinfold thickness (SFT) measurements at 4 body sites at 3-5 d, 6 wk, and 4 and 12 mo postpartum. Secondary endpoints included sonographic assessment of abdominal subcutaneous and preperitoneal fat, fat distribution, and child growth. RESULTS Infants did not differ in the sum of their 4 SFTs at ≤1 y of life [intervention: 24.1 ± 4.4 mm (n = 85); control: 24.1 ± 4.1 mm (n = 80); mean difference: -0.0 mm (95% CI: -1.3, 1.3 mm)] or in growth. Likewise, longitudinal ultrasonography showed no significant differences in abdominal fat mass or fat distribution. CONCLUSIONS We showed no evidence that supplementation with n-3 fatty acids and instructions to reduce arachidonic acid intake during pregnancy and lactation relevantly affects fat mass in offspring during the first year of life. Prospective long-term studies are needed to explore the efficacy of this dietary approach for primary prevention. This trial was registered at clinicaltrials.gov as NCT00362089.