Miracle-dz/UniFAR-FTUs huggingface dataset:
A novel nonsense mutation in the EYA1 gene associated with branchio‐oto‐renal/branchiootic syndrome in an Afrikaner kindred

Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder characterized by the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic (BO) syndrome is a related disorder that presents without the highly variable characteristic renal anomalies of BOR syndrome. Dominant mutations in the human homologue of the Drosophila eyes absent gene (EYA1) are frequently the cause of both BOR and BO syndromes. We report a South African family of Afrikaner descent with affected individuals presenting with pre‐auricular abnormalities and either hearing loss or bilateral absence of the kidneys. Genetic analysis of the pedigree detected a novel EYA1 heterozygous nonsense mutation in affected family members but not in unaffected family members or a random DNA panel. Through mutational analysis, we conclude that this particular mutation is the cause of BOR/BO syndrome in this family as a result of a truncation of the EYA1 protein that ablates the critical EYA homologous region. To the best of our knowledge, this is the first case of BOR/BO syndrome reported in Africa or in those of the Afrikaner descent.
Penile Rehabilitation after Pelvic Cancer Surgery

Erectile dysfunction is the most common complication after pelvic radical surgery. Rehabilitation programs are increasingly being used in clinical practice but there is no high level of evidence supporting its efficacy. The principle of early penile rehabilitation stems from animal studies showing early histological and molecular changes associated with penile corporal hypoxia after cavernous nerve injury. The concept of early penile rehabilitation was developed in late nineties with a subsequent number of clinical studies supporting early pharmacologic penile rehabilitation. These studies included all available phosphodiesterase type 5 inhibitors, intracavernosal injection and intraurethral use of prostaglandin E1 and to lesser extent vacuum erectile devices. However, these studies are of small number, difficult to interpret, and often with no control group. Furthermore, no studies have proven an in vivo derangement of endothelial or smooth muscle cell metabolism secondary to a prolonged flaccid state. The purpose of the present report is a synthetic overview of the literature in order to analyze the concept and the rationale of rehabilitation program of erectile dysfunction following radical pelvic surgery and the evidence of such programs in clinical practice. Emphasis will be placed on penile rehabilitation programs after radical cystoprostatectomy, radical prostatectomy, and rectal cancer treatment. Future perspectives are also analyzed.
Rough Set Approach to Multivariate Decision Trees Inducing

Aimed at the problem of huge computation, large tree size and over-fitting of the testing data for multivariate decision tree (MDT) algorithms, we proposed a novel rough set-based multivariate decision trees (RSMDT) method. In this paper, the positive region degree of condition attributes with respect to decision attributes in rough set theory is used for selecting attributes in multivariate tests. And a new concept of extended generalization of one equivalence relation corresponding to another one is introduced and used for construction of multivariate tests. We experimentally test RSMDT algorithm in terms of classification accuracy, tree size and computing time, using the whole 36 UCI Machine Learning Repository data sets selected by Weka platform, and compare it with C4.5, classification and regression trees (CART), classification and regression trees with linear combinations (CART-LC), Oblique Classifier 1 (OC1), Quick Unbiased Efficient Statistical Trees (QUEST). The experimental results indicate that RSMDT algorithm significantly outperforms the comparison classification algorithms with improved classification accuracy, relatively small tree size, and shorter computing time.
Nonspecific alcoholysis, a novel endonuclease activity of human immunodeficiency virus type 1 and other retroviral integrases

Retroviral integrase (IN) exhibits a previously unrecognized endonuclease activity which we have termed nonspecific alcoholysis. This action occurred at every position in nonviral DNA sequences except those near 5' ends and is clearly distinguished from, and was not predicted by, the site-specific alcoholysis activity previously described for IN at the processing site near viral DNA termini. The integrases of human immunodeficiency virus type 1, visna virus, and Rous sarcoma virus exhibited different target site preferences in this new assay. The isolated central domain of human immunodeficiency virus type 1 IN preferred the same sites as the full-length protein. Nonspecific alcoholysis may provide insights into the structure and function of IN and other endonucleases and suggests that stimulators of some activities possessed by retroviral enzymes should be sought as antiviral agents.
Decision magnitude of impact and strategic decision‐making process output: The mediating impact of rationality of the decision‐making process

Purpose – The purpose of this paper is to identify the role of the rationality of the strategic decision‐making process between decision magnitude of impact and the quality of the decision process output.Design/methodology/approach – From analysis of alternative research approaches, a field survey seems to be the most appropriate methodological choice. This is a field study of real strategic decision‐making process rather than an artificial setting. The questionnaire consists of items measuring the variables of primary interest; namely the independent, mediator, and dependent variables. The study was conducted in Pinang, Malaysia, involving small, medium, and large‐sized private manufacturing firms. To test and eliminate ambiguous or biased items and to improve the format, both for ease of understanding and to facilitate data analysis, a pilot study was conducted by computing Cronbach's reliability alpha.Findings – The results of regression analysis indicate that the decision magnitude of impact is signif.
Biometric Authentication: A Review

Advances in the field of Information Technology also make Information Security an inseparable part of it. In order to deal with security, Authentication plays an important role. This paper presents a review on the biometric authentication techniques and some future possibilities in this field. In biometrics, a human being needs to be identified based on some characteristic physiological parameters. A wide variety of systems require reliable personal recognition schemes to either confirm or determine the identity of an individual requesting their services. The purpose of such schemes is to ensure that the rendered services are accessed only by a legitimate user, and not anyone else. By using biometrics it is possible to confirm or establish an individual’s identity. The position of biometrics in the current field of Security has been depicted in this work. We have also outlined opinions about the usability of biometric authentication systems, comparison between different techniques and their advantages and disadvantages in this paper.
Appearance-based Brake-Lights recognition using deep learning and vehicle detection

Vehicle following is one of the fundamental functions of an autonomous driving system. Detection and recognition of tail light signal is important to prevent an autonomous vehicle from rear-end collisions or accidents. Although sensors like acoustic sonar or commercialized Advanced Driving Assistance System (ADAS) products such as mobileye could be used for rear-end collision warning, a cost-effective approach is expected. In this paper, we have developed a novel two-stage approach to detect vehicles and recognize brake lights from a single image in real-time. Unlike previous approaches where pair taillight has to be extracted explicitly, we use vehicle rear appearance image instead. On a large database, “Brake Lights Patterns” (BLP) are learned by a multi-layer perception neural network. Given an image, the vehicles can be classified as “brake” or “normal” using the deep classifier. The vehicle can be detected quickly and robustly by combining multi-layer lidar (IBEO Lux fusion system) and a camera. Road segmentation and a novel vanishing point region of interest (ROI) determination method are explored to further speed up the detection and improve the robustness. The experimental results conducted on some real on-road videos have shown the robustness and efficiency of the proposed approach.
17.11 A 0.65ns-response-time 3.01ps FOM fully-integrated low-dropout regulator with full-spectrum power-supply-rejection for wideband communication systems

High performance low-dropout regulators (LDOs) are indispensable in a systemon-a-chip (SoC) due to their low output noise, fast transient response and good power supply rejection (PSR) characteristics. In general, differential analog circuit loads need an LDO with high PSR, digital circuit loads need an LDO with fast load transient response, while single-ended analog/RF circuit loads need an LDO with both high PSR and fast transient response. Figure 17.11. 1 shows an LDO embedded in an optical receiver that helps improve the sensitivity of the front-end system. On-chip LDOs with PSR in the GHz range are in high demand for wideband optical communication systems because there is only one photo detector in the optical receiver and supply voltage variations would degrade its sensitivity severely.
Comparing Italian parsers on a common Treebank: the EVALITA experience

The EVALITA 2007 Parsing Task has been the first contest among parsing systems for Italian. It is the first attempt to compare the approaches and the results of the existing parsing systems specific for this language using a common treebank annotated using both a dependency and a constituency-based format. The development data set for this parsing competition was taken from the Turin University Treebank, which is annotated both in dependency and constituency format. The evaluation metrics were those standardly applied in CoNLL and PARSEVAL. The results of the parsing results are very promising and higher than the state-of-the-art for dependency parsing of Italian. An analysis of such results is provided, which takes into account other experiences in treebank-driven parsing for Italian and for other Romance languages (in particular, the CoNLL X & 2007 shared tasks for dependency parsing). It focuses on the characteristics of data sets, i.e. type of annotation and size, parsing paradigms and approaches applied also to languages other than Italian.
Excitation-Contraction Coupling between Human Atrial Myocytes with Fibroblasts and Stretch Activated Channel Current: A Simulation Study

Myocytes have been regarded as the main objectives in most cardiac modeling studies and attracted a lot of attention. Connective tissue cells, such as fibroblasts (Fbs), also play crucial role in cardiac function. This study proposed an integrated myocyte-I sac-Fb electromechanical model to investigate the effect of Fbs and stretch activated ion channel current (I sac) on cardiac electrical excitation conduction and mechanical contraction. At the cellular level, an active Fb model was coupled with a human atrial myocyte electrophysiological model (including I sac) and a mechanical model. At the tissue level, electrical excitation conduction was coupled with an elastic mechanical model, in which finite difference method (FDM) was used to solve the electrical excitation equations, while finite element method (FEM) was used for the mechanics equations. The simulation results showed that Fbs and I sac coupling caused diverse effects on action potential morphology during repolarization, depolarized the resting membrane potential of the human atrial myocyte, slowed down wave propagation, and decreased strains in fibrotic tissue. This preliminary simulation study indicates that Fbs and I sac have important implications for modulating cardiac electromechanical behavior and should be considered in future cardiac modeling studies.
Intravenous magnesium sulfate treatment for acute asthma in the emergency department: a systematic review of the literature.

STUDY OBJECTIVES There is some evidence that magnesium, when infused into asthmatic patients, can produce bronchodilation in addition to that obtained from standard treatments. This systematic review examined the effect of intravenous magnesium sulfate used for patients with acute asthma managed in the emergency department. METHODS Only randomized controlled trials were eligible for inclusion. Studies were included if patients presented with acute asthma and were treated with intravenous magnesium sulfate versus placebo. Trials were identified from the Cochrane Airways Review Group register, which consists of a combined search of EMBASE, MEDLINE, and CINAHL databases and hand-searching of 20 key respiratory journals. Bibliographies from included studies and known reviews were searched. Primary authors and content experts were contacted. Data were extracted and methodologic quality was assessed independently by 2 reviewers. Missing data were obtained from authors. RESULTS Seven trials (5 adult, 2 pediatric) involving a total of 668 patients were included. Overall, admission to hospital was not statistically reduced using magnesium sulfate (odds ratio [OR] 0.31, 95% confidence interval [CI] 0.09 to 1.02). In the severe subgroup, admissions were reduced in those receiving magnesium sulfate (OR 0.10, 95% CI 0.04 to 0.27). Overall, patients receiving magnesium sulfate demonstrated nonsignificant improvements in peak expiratory flow rates (PEFR) when all studies were pooled (weighted mean difference [WMD] 29 L/min, 95% CI -3 to 62). In studies of patients with severe acute asthma, PEFR WMD improved by 52 L/min (95% CI 27 to 78) favoring magnesium sulfate treatment. The absolute FEV(1) also improved by 10% predicted (95% CI 4 to 16) in patients with severe acute asthma. No clinically important changes in vital signs or side effects were reported. CONCLUSION Current evidence does not clearly support routine use of intravenous magnesium sulfate in all patients with acute asthma presenting to the ED. However, magnesium sulfate appears to be safe and beneficial for patients who present with severe acute asthma. Practice guidelines need to be changed to reflect these results.
Imatinib Mesylate Effectiveness in Chronic Myeloid Leukemia with Additional Cytogenetic Abnormalities at Diagnosis among Black Africans

Imatinib mesylate provides good results in the treatment of CML in general. But what about the results of this treatment in CML associated with additional cytogenetic abnormalities at diagnosis among black Africans? For this, we retrospectively studied 27 cases of CML associated with additional cytogenetic abnormalities, diagnosed in the department of clinical hematology of the University Hospital of Yopougon in Côte d'Ivoire, from May 2005 to October 2011. The age of patients ranged from 13 to 68 years, with a mean age of 38 years and a sex ratio of 2. Patients were severely symptomatic with a high Sokal score of 67%. CML in chronic phase accounted for 67%. The prevalence of additional cytogenetic abnormalities was 29.7%. There were variants of the Philadelphia chromosome (18.5%), trisomy 8 (14.8%), complex cytogenetic abnormalities (18.5%), second Philadelphia chromosome (14.8%), and minor cytogenetic abnormalities (44.4%). Complete hematologic remission was achieved in 59%, with 52% of major cytogenetic remission. The outcome was fatal in 37% of patients. Death was related in 40% to hematologic toxicity and in 30% to acutisation. The median survival was 40 months.
XMM-Newton EPIC observations of 21 low-redshift PG quasars

We present an X-ray spectral analysis of 21 low redshift quasars observed with XMM-Newton EPIC. All the sources are Palomar Green quasars with redshifts between 0.05 and 0.4 and have low Galactic absorption along the line-of-sight. A large majority of quasars in the sample (19/21) exhibit a significant soft excess below ∼1-1.5 keV, whilst two objects (PG 1114+445 and I Zw1) show a deficit of soft X-ray flux due to the presence of a strong warm absorber. Indeed, contrary to previous studies with ASCA and ROSAT, we find that the presence of absorption features near 0.6-1.0 keV is common in our sample. At least half of the objects appear to harbor a warm absorber, as found previously in Seyfert 1 galaxies. We find significant detections of Fe Kα emission lines in at least twelve objects, whilst there is evidence for some broadening of the line profile, compared to the EPIC-pn resolution, in five of these quasars. The determination of the nature of this broadening (e.g., Keplerian motion, a blend of lines, relativistic effects) is not possible with the present data and requires either higher S/N or higher resolution spectra. In seven objects the line is located between 6.7-7 keV, corresponding to highly ionized iron, whereas in the other five objects the line energy is consistent with 6.4 keV, i.e. corresponding to near neutral iron. The ionized lines tend to be found in the quasars with the steepest X-ray spectra. We also find a correlation between the continuum power law index Γ and the optical Hβ width, in both the soft and hard X-ray bands, whereby the steepest X-ray spectra are found in objects with narrow Hβ widths, which confirms previous ROSAT and ASCA results. The soft and hard band X-ray photon indices are also strongly correlated, i.e. the steepest soft X-ray spectra correspond the steepest hard X-ray spectra. We propose that a high accretion rate and a smaller black hole mass is likely to be the physical driver responsible for these trends, with the steep spectrum objects likely to have smaller black hole masses accreting near the Eddington rate.
Leptin and vascular function: Friend or foe?

Leptin is the protein product of the adipocyte ob gene. Leptin levels are related to the amount of body fat, and leptin was viewed primarily as a modulator of appetite control and energy homeostasis. However, leptin receptors have been also identified in various peripheral tissues, including in the cardiovascular system and in human coronary arteries. Although the exact role of leptin in cardiac and vascular homeostasis is still not fully understood, most clinical studies consistently support the notion of leptin as a cardiovascular risk factor, with higher leptin levels associated with worse cardiovascular prognosis. For example, two nested case-referent studies reported that leptin might be a risk factor for myocardial infarction and stroke.1,2 Although no association between leptin levels and coronary events was found in the Quebec Cardiovascular Study population,3 leptin was reported to be an independent predictor of coronary events (myocardial infarction or coronary revascularization) over a 5-year follow-up in the larger WOSCOPS population.4 This prospective study examined leptin's interaction with cardiovascular outcomes in moderately hypercholesterolaemic men, without a history of myocardial infarction or any other major manifestations of CAD. In addition to being predictive of outcome in the relatively low-risk WOSCOPS population, leptin was also found to have prognostic implications in higher risk patients with established and angiographically confirmed coronary atherosclerosis. Wolk et al . 5 studied 382 subjects undergoing clinically indicated coronary angiography and followed up for a median of 4 years. Leptin (both unadjusted and adjusted for body mass) had a significant association with … *Corresponding author. Tel: +1 507 255 1144; fax: +1 507 255 7070. E-mail address : somers.virend{at}mayo.edu
Honest Government: An Ethics Guide for Public Service

Foreword by Senator Howard Baker Preface Introduction A Philosophy of Public Service Financing Election Campaigns Campaigning Elected Officials Appointed Officials Public Employees Lobbyists Paying Public Servants The Revolving Door Lawyers In Public Life The Private Lives of Public Officials Enforcing Public Service Ethics Competent or Ethical? Appendix: Model Code of Ethics for Public Officials Selected Bibliography Index
Evaluation of Distributed Event Notification Protocols in Highly Unstable MANETs

In the Ad-Hoc Infoware project, we design middleware services for emergency and rescue scenarios in MANETs. In these scenarios, the MANETs can be highly unstable, with frequent network partitioning and merging, and resources can be scarce. In this paper, we present three protocols for a distributed event notification service (DENS) that address these concerns. We describe the protocols, their implementation in the emulation environment NEMAN and their evaluation.
An Examination of the Differential Impact of Monetary Policy Announcements and Explanatory Minutes Releases on the Australian Interest Rate Futures Market

Unlike US and European jurisdictions, Australian monetary policy announcements are not followed promptly by projections materials or statements that explain the decision process. This information is disclosed two weeks later when the explanatory minutes of the Reserve Bank board meeting are released. This paper is therefore the first study to exploit the unique features of the Australian monetary policy environment in order to examine the differential impact of monetary policy announcements and explanatory statements on the Australian interest rate futures market. We find that both monetary policy announcements and explanatory minutes releases have a significant impact on the returns and volatility of Australian interest rate futures contracts. When this impact is differentiated, the informational content of explanatory minutes releases is shown to elicit a larger response in returns. Further, the impact of monetary policy announcements is demonstrated to be affected by conditioning on the state of the economy. Specifically, returns respond asymmetrically to interest rate changes, intensify during the Global Financial Crisis, and are moderated by sentiment.
An Analysis of Auditory Manifestations in a Group of Adults with AIDS Prior to Antiretroviral Therapy

The chief objective of the current study was to investigate the auditory status in a group of adults with AIDS before commencing antiretroviral therapy (ART) in a hospital outpatient clinic in Gauteng, South Africa. A total sample of 150 participants, aged between 20 and 46 years, was assessed following a prospective qualitative research design. All participants underwent case history interviews and medical record reviews, otoscopy and tympanometry, as well as conventional pure tone audiometry testing. Descriptive statistics was used to analyse data obtained. Prevalence, type, degree, configuration, and symmetry of the auditory manifestations; as well as type of onset of hearing loss and the possible causes of the auditory manifestations were analysed. Findings indicated that auditory manifestations in adults with AIDS are varied in nature and are possibly due to a number of causes. Manifestations including hearing loss, tinnitus and vertigo (in varied combinations) were found; with the types of hearing loss being mainly sensorineural in nature. The severity of hearing loss ranged from mild to severe, occurred either unilaterally or bilaterally; with the type of onset being mainly gradual and progressive in nature. The varied causes of hearing loss included HIV infection or AIDS illness as a primary cause, opportunistic infections, and various ototoxic therapies that the patients had undergone. Implications for future research as well as future assessment and management of patients with AIDS are raised.