Miracle-dz/UniFAR-FTUs huggingface dataset:
CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome

Background Otologic manifestations are one of the most consistent findings of CHARGE syndrome found in more than 90%. Since genetic analysis of the CHD7 gene has rarely been performed in previous reports dealing with ear abnormalities, the genotypic spectrum of CHD7 mutations was analyzed in deaf patients with CHARGE syndrome, and the clinical considerations concerning auditory rehabilitation were investigated. Methods Nine Korean patients with CHARGE syndrome showing profound hearing loss and semicircular canal aplasia were included. All 38 exons of CHD7 were analyzed by direct sequencing. For splice site variations, in silico and exon-trapping analyses were performed to verify the pathogenicity of nucleotide variations. Clinical features and the outcome of auditory rehabilitation were also analyzed. Results Eight of 9 patients revealed alterations of the CHD7 gene including 3 frameshift, 2 nonsense, 2 splice site, and 1 missense mutations. Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene. One familial case showed intra-familial variability. Radiologic findings suggesting cochleovestibular nerve deficiency were identified in most of the patients. Of the 8 patients who underwent cochlear implantation, 5 patients demonstrated favorable outcome. Larger diameter of the cochleovestibular nerve on imaging and absence of severe mental retardation were factors related to better outcome after cochlear implantation rather than the type of CHD7 mutations. Auditory brainstem implantation was performed in two patients who did not benefit from cochlear implantation. Conclusions Genetic analysis of the CHD7 gene should be performed in cases with semicircular canal aplasia even when other typical features of CHARGE syndrome are absent. For auditory rehabilitation in CHARGE syndrome, cochlear implantation should be strongly recommended in selected cases with favorable prognostic factors. Auditory brainstem implantation may be a viable option in patients with CHARGE syndrome who have failed to benefit from cochlear implantation.
Actin cross-linking proteins cortexillin I and II are required for cAMP signaling during Dictyostelium chemotaxis and development

Double deletion of actin-binding proteins cortexillin I and II alters the actin cytoskeleton (bundled actin filaments accumulate in the cell cortex) of Dictyostelium, substantially inhibits all molecular responses to extracellular cAMP, and completely blocks cell streaming and development of cells into mature fruiting bodies.
Cognos: crowdsourcing search for topic experts in microblogs

Finding topic experts on microblogging sites with millions of users, such as Twitter, is a hard and challenging problem. In this paper, we propose and investigate a new methodology for discovering topic experts in the popular Twitter social network. Our methodology relies on the wisdom of the Twitter crowds -- it leverages Twitter Lists, which are often carefully curated by individual users to include experts on topics that interest them and whose meta-data (List names and descriptions) provides valuable semantic cues to the experts' domain of expertise. We mined List information to build Cognos, a system for finding topic experts in Twitter. Detailed experimental evaluation based on a real-world deployment shows that: (a) Cognos infers a user's expertise more accurately and comprehensively than state-of-the-art systems that rely on the user's bio or tweet content, (b) Cognos scales well due to built-in mechanisms to efficiently update its experts' database with new users, and (c) Despite relying only on a single feature, namely crowdsourced Lists, Cognos yields results comparable to, if not better than, those given by the official Twitter experts search engine for a wide range of queries in user tests. Our study highlights Lists as a potentially valuable source of information for future content or expert search systems in Twitter.
Neutrophil Migration across Intestinal Epithelium: Evidence for a Role of CD44 in Regulating Detachment of Migrating Cells from the Luminal Surface

The migration of polymorphonuclear leukocytes (PMNs) across the intestinal epithelium is a histopathological hallmark of many mucosal inflammatory diseases including inflammatory bowel disease. The terminal transmigration step is the detachment of PMNs from the apical surface of the epithelium and their subsequent release into the intestinal lumen. The current study sought to identify epithelial proteins involved in the regulation of PMN migration across intestinal epithelium at the stage at which PMNs reach the apical epithelial surface. A panel of Abs reactive with IFN-γ–stimulated T84 intestinal epithelial cells was generated. Screening efforts identified one mAb, GM35, that prevented PMN detachment from the apical epithelial surface. Microsequencing studies identified the GM35 Ag as human CD44. Transfection studies confirmed this result by demonstrating the loss of the functional activity of the GM35 mAb following attenuation of epithelial CD44 protein expression. Immunoblotting and immunofluorescence revealed the GM35 Ag to be an apically expressed v6 variant exon-containing form of human CD44 (CD44v6). ELISA analysis demonstrated the release of soluble CD44v6 by T84 cells during PMN transepithelial migration. In addition, the observed release of CD44v6 was blocked by GM35 treatment, supporting a connection between CD44v6 release and PMN detachment. Increased expression of CD44v6 and the GM35 Ag was detected in inflamed ulcerative colitis tissue. This study demonstrates that epithelial-expressed CD44v6 plays a role in PMN clearance during inflammatory episodes through regulation of the terminal detachment of PMNs from the apical epithelial surface into the lumen of the intestine.
A potential role of activated NF-κB in the pathogenesis of euthyroid sick syndrome

Euthyroid sick syndrome, characterized by low serum 3,5, 3'-triiodothyronine (T(3)) with normal L-thyroxine levels, is associated with a wide variety of disorders including sepsis, malignancy, and AIDS. The degree of low T(3) in circulation has been shown to correlate with the severity of the underlying disorders and with the prognosis. Elevated TNF-alpha levels, which accompany severe illness, are associated with decreased activity of type I 5'-deiodinase (5'-DI) in liver, leading us to speculate that high levels of this factor contribute to euthyroid sick syndrome. Here we demonstrate that the activation of NF-kappa B by TNF-alpha interferes with thyroid-hormone action as demonstrated by impairment of T(3)-dependent induction of 5'-DI gene expression in HepG2 cells. Inhibition of NF-kappa B action by a dominant-negative NF-kappa B reversed this effect and allowed T(3) induction of 5'-DI. Furthermore, we show that an inhibitor of NF-kappa B activation, clarithromycin (CAM), can inhibit TNF-alpha-induced activation of NF-kappa B and restore T(3)-dependent induction of 5'-DI mRNA and enzyme activity. These results suggest that NF-kappa B activation by TNF-alpha is involved in the pathogenesis of euthyroid sick syndrome and that CAM could help prevent a decrease in serum T(3) levels and thus ameliorate euthyroid sick syndrome.
Robustness of G Proteins in Alzheimer's Disease: An Immunoblot Study

Abstract: Many of the neurotransmitter systems that are altered in senile dementia of the Alzheimer type are known to mediate their effects via G proteins, yet the integrity of guanine nucleotide‐binding proteins (G proteins) in Alzheimer's diseased brains has received minimal investigation. The aim of this study was to establish whether the level of Gα subunits of five G proteins was altered in Alzheimer's disease. We used immunoblotting (Western blotting) to compare the amounts of Gi1, Gi2, GsH (heavy molecular weight), GSL (light molecular weight), and Go in the frontal cortex and hippocampus, two regions severely affected by the disease, and the cerebellum, which is less severely affected. The number of senile plaques was also quantified. We report that there was no significant difference in the level of these Gα subunits between Alzheimer's diseased and age‐matched postmortem brains. These results suggest that alterations in the amount of G protein α subunits are not a feature of Alzheimer's disease.
Masculinity, Socioeconomic Status, and Self-Reported Health among African American Men

The purpose of this study was to examine the influence of masculinity and socioeconomic status (i.e., income) on the self-reported health of a sample of African American men. Study participants (n = 122) were barbershop patrons from Chicago, Illinois, who ranged in age from 18 to 66. We used logistic regression to assess the relationship between masculinity and self-reported health. Masculinity was measured as the average of responses to a subset of 10 items from the Male Role Norms Inventory and the Male Attitude Norms Inventory II. Self-reported health was measured with a five point Likert scale and dichotomized as excellent versus other health status. Analyses suggested that masculinity, but not socioeconomic status, was positively associated with excellent self-reported health. Such results offer understanding of how masculinity and self-reported health impact health outcomes in African American men.
Uncertainty Increases Pain: Evidence for a Novel Mechanism of Pain Modulation Involving the Periaqueductal Gray

Predictions about sensory input exert a dominant effect on what we perceive, and this is particularly true for the experience of pain. However, it remains unclear what component of prediction, from an information-theoretic perspective, controls this effect. We used a vicarious pain observation paradigm to study how the underlying statistics of predictive information modulate experience. Subjects observed judgments that a group of people made to a painful thermal stimulus, before receiving the same stimulus themselves. We show that the mean observed rating exerted a strong assimilative effect on subjective pain. In addition, we show that observed uncertainty had a specific and potent hyperalgesic effect. Using computational functional magnetic resonance imaging, we found that this effect correlated with activity in the periaqueductal gray. Our results provide evidence for a novel form of cognitive hyperalgesia relating to perceptual uncertainty, induced here by vicarious observation, with control mediated by the brainstem pain modulatory system.
Analysis of coincident failing ensembles in multi-version systems

Multi-version programming is a well-known method to increase the reliability of critical software. It relies on the use multiple functionally equivalent programs or versions to provide, hopefully, a better result than that of any single version. The analysis and use of this type of system has been based on the individual reliabilities of the versions and the assumption of independence between them. However, versions might fail simultaneously and the gain from the use of diversity completely depends on the degree of dependence between the failure processes of the versions, not only on their individual reliabilities. In this paper, we present an empirical study of the correlation of code complexity measures of the versions and their coincident failures.
ICD Social Codes: An Underutilized Resource for Tracking Social Needs

Background: Social determinants of health (SDH) data collected in health care settings could have important applications for clinical decision-making, population health strategies, and the design of performance-based incentives and penalties. One source for cataloging SDH data is the International Statistical Classification of Diseases and Related Health Problems (ICD). Objective: To explore how SDH are captured with ICD Ninth revision SDH V codes in a national inpatient discharge database. Materials and Methods: Data come from the 2013 Healthcare Cost and Utilization Project (HCUP) National Inpatient Sample, a national stratified sample of discharges from 4363 hospitals from 44 US states. We estimate the rate of ICD-9 SDH V code utilization overall and by patient demographics and payer categories. We additionally estimate the rate of SDH V code utilization for: (a) the 5 most common reasons for hospitalization; and (b) the 5 conditions with the highest rates of SDH V code utilization. Results: Fewer than 2% of overall discharges in the National Inpatient Sample were assigned an SDH V code. There were statistically significant differences in the rate of overall SDH V code utilization by age categories, race/ethnicity, sex, and payer (all P<0.001). Nevertheless, SDH V codes were assigned to <7% of discharges in any demographic or payer subgroup. SDH V code utilization was highest for major diagnostic categories related to mental health and alcohol/substance use-related discharges. Conclusions: SDH V codes are infrequently utilized in inpatient settings for discharges other than those related to mental health and alcohol/substance use. Utilization incentives will likely need to be developed to realize the potential benefits of cataloging SDH information.
Thrombolytic therapy for central retinal vein occlusion: results of a pilot study.

OBJECTIVE To evaluate the feasibility of conducting a randomized, controlled trial of thrombolytic therapy for central retinal vein occlusion (CRVO) using tissue plasminogen activator (TPA); to establish relative efficacy and safety of various dosing regimens. DESIGN AND PATIENTS Ninety-six patients with CRVO were treated with TPA between May 1986 and December 1992. Prior to patient enrollment, a standardized, detailed protocol was developed for evaluation and treatment of all patients. This included standard protocols for determining eligibility, reporting complications, performing photography and electroretinography, and measuring visual acuity. MAIN OUTCOME MEASURES Best corrected visual acuity at 6 months, systemic and ophthalmic treatment complications. RESULTS At 6 months' follow-up, 42% (n = 89) of eyes gained three or more lines of vision from pretreatment levels (average gain, 5.1 lines), 37% remained stable, and 21% lost three or more lines. Of eyes with 20/100 or worse pretreatment vision (n = 32), 59% gained three or more lines vision (average gain, 6.4 lines), 31% remained stable, and 9% lost three or more lines. One patient suffered a fatal stroke. Three patients developed intraocular bleeding during TPA administration. CONCLUSION Thromobolytic therapy with TPA appears to be a promising, albeit risky, new treatment; conclusive evaluation of safety and efficacy awaits a multicenter, randomized, clinical trial; feasibility of such a trial has been established by this study.
MMR vaccine and idiopathic thrombocytopaenic purpura.

AIMS To estimate the relationship between idiopathic thrombocytopaenic purpura (ITP) and the measles, mumps and rubella (MMR) vaccination in children; calculating the relative risk estimate for ITP with in 6 weeks after MMR vaccination and the attributable risk of ITP within 6 weeks after MMR vaccination. METHODS Using the General Practice Research Database we identified children with a first-time diagnosis of ITP from a base population of children aged less than 6 years between January 1988 and December 1999. After describing the characteristics of all the children identified with ITP, we focused on cases aged 13-24 months to perform a population-based, case-control analysis to estimate the relative risk of developing ITP within 6 weeks after MMR vaccination. We also calculated the risk of ITP attributable to the MMR vaccination. RESULTS Sixty-three children with a first time diagnosis of ITP were identified; 23 cases were between 13 and 24 months old. The relative risk estimate for ITP within 6 weeks after MMR vaccination, compared to the combined group of unvaccinated children and children vaccinated with MMR more than 26 weeks previously was 6.3 (95% CI 1.3-30.1). The attributable risk of developing ITP within 6 weeks after MMR vaccination was estimated to be 1 in 25,000 vaccinations (95% confidence interval 21,300, 89,400). CONCLUSION This study confirms the increased risk of ITP within 6 weeks after MMR vaccination. However, the attributable risk of ITP within 6 weeks after MMR vaccination is low.
Vesicles-mediated resistance to antibiotics in bacteria

During the past few decades, antibiotic-resistance of bacteria has assumed the proportion of a global crisis. The discovery of new antibiotics is not matching the rate of emergence of resistant strains thus narrowing the scope of chemotherapy. Notwithstanding the fact that emergence of resistance is facilitated by the use of antibiotics (Levy, 2002) exposure to antibiotics is not a pre-requisite for it. Antibiotic-resistance is detected even in bacteria occurring in places detached from the human civilization for millions of years (Bhullar et al., 2012). The various mechanisms responsible for antibiotic-resistance of bacteria were discussed in this journal some time back (Lin et al., 2015). Outer Membrane Vesicles (OMVs) are spherical bag-like structures (20–300 nm) released predominantly by gram-negative bacteria in the outer environment. They help the producer cells in communication with other cells, secretion, pathogenesis, acquisition of nutrients, and self-defense (Kulkarni and Jagannadham, 2014). Recent evidences indicate that they protect bacteria not only from phages and various environmental stress factors but also some antibiotics. The nature of vesicle-mediated antibiotic-resistance, known so far, is dealt with in this article.
Is Timely and Appropriate Antifungal Drug Enough for Survival of Adult Cases with Candidaemia? Five-year Experience.

OBJECTIVE Candidaemia is the fourth most common cause of nosocomial bloodstream infections. The objective of this paper was to evaluate the risk factors associated with mortality in patients with candidaemia with respect to Candida species and their susceptibilities, retrospectively. METHODS All consecutive patients who developed candidaemia at an 800-bed training and research hospital were enrolled in this retrospective, observational, single centre study during the period June 2006 to December 2011. RESULTS A total of 97 candidaemia episodes were identified in 97 patients during the study period with an overall incidence of four episodes/10 000 admissions in adults. Crude 30-day mortality rates among patients with candidaemia were 56% (55 of 97 cases). Urinary catheterization, immunosuppressive therapy, acute physiology and chronic health evaluation (APACHE) II score (≥ 16) and hypoalbuminaemia were found to be independent risk factors for fatal candidaemia. CONCLUSIONS Adult cases with candidaemia who have risk factors associated with mortality are more likely to have poor prognosis despite appropriate and timely initiated antifungal drug treatment. Empiric antifungal drug should be tailored according to the severity of the patients' conditions and local antifungal susceptibility.
The Role of Spatial Attention in Nonconscious Processing

Recent findings from the masked priming paradigm have revealed a surprising influence of higher-level cognitive systems (i.e., attention) on nonconscious cognitive processes. These data have effectively undermined the long-standing assumption in cognitive science that nonconscious processes are carried out independently of attention and have quickly led to the opposite view that attention is a prerequisite for nonconscious processes. Here we present evidence for a middle position by showing that the dependence of nonconscious processes on attention varies with the type of information to be processed. Specifically, we found that nonconsciously perceived faces engaged cognitive processes regardless of attention, whereas nonface stimuli engaged cognitive processes only when attended. These qualitatively different patterns suggest two distinct processing routes: one that is modulated by visual attention and one that is not.
Üniversite Öğrencilerinin Gelecek Kaygısı / The Future Anxiety of the University Students

Bu arastirmanin amaci, Ahi Evran Universitesi 4. sinifta ogrenim goren ogrencilerin kaygi duzeylerini bazi sosyodemografik degiskenler acisindan incelemektir. Bu degiskenler baslica ogrencilerin universiteye giris yili, cinsiyeti, ogrenim gordugu fakulte/yuksekokul, agirlikli genel not ortalamasi, anne-baba tutumu, ailesinin ortalama aylik geliri ve barindiklari yerlerden olusmaktadir. Arastirmanin evreni 2013-2014 Egitim-Ogretim Yili Bahar Yariyili’nda Ahi Evran Universitesi’ne bagli 4 yillik egitim veren fakulte ve yuksekokullarin 4. siniflarinda ogrenim goren 2489 ogrencinin tamamindan olusmaktadir. Arastirma dogrudan evren uzerinde yapildigindan orneklem alma yoluna gidilmemistir. Verilerin toplanmasi asamasinda arastirmaci tarafindan olusturulan Kisisel Bilgi Formu, Spielberger ve Gorsuch tarafindan gelistirilen toplam 40 sorudan olusan Durumluk-Surekli Kaygi Olcegi’nin surekli kaygiyi olcen 20 soruluk kismi kullanilmistir. Veriler analiz edilirken frekans, yuzde, t-testi, varyans analizi ve Bonferroni testinden yararlanilmistir. Arastirmanin sonuclarina gore; cinsiyet, fakulte/yuksekokul, anne-baba tutumu, ailenin ortalama aylik geliri ve barinilan yer degiskenlerine gore ogrencilerin surekli kaygi duzeyleri arasinda istatistiksel acidan anlamli farkliliklarin oldugu, universiteye giris yili ve agirlikli genel not ortalamalarina gore surekli kaygi duzeyleri arasinda istatistiksel olarak anlamli bir farklilik olmadigi tespit edilmistir.
GPla Polymorphisms Are Associated with Outcomes in Patients at High Cardiovascular Risk

Background Platelet membrane glycoprotein receptors mediate thrombus formation. GP Ia/IIa is an essential platelet integrin receptor. Single-nucleotide polymorphisms (SNPs) of the GP Ia/IIa gene alter GP Ia/IIa expression; however, their influence on cardiovascular disease remains unclear. This study aimed to investigate the effect of the GP Ia/IIa SNPs rs1126643 and rs1062535 on clinical outcomes in a large collective including high-risk patients with cardiovascular disease. Methods and results GP Ia SNP analysis was performed in 943 patients with symptomatic coronary artery disease. All patients were tracked for all-cause death, myocardial infarction, and ischemic stroke for 360 days. Homozygous carriers of the minor allele showed significantly worse event-free survival when compared with major allele carriers in the complete collective as well as in the subset of high-risk patients (carrying all of the following three risk factors: diabetes type II, hypertension, and hyperlipidemia). There was no significant difference in the subset of low-risk patients (carrying none of the three risk factors). Conclusions GPla SNPs are associated with cardiovascular prognosis especially in high-risk patients. Identification of GPIa SNPs is of importance to tailor therapies in patients at already high cardiovascular risk.