LLukas22/scidocs huggingface dataset:
Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289). Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. However, analysis of additional patients with nonsyndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis. Citation: Radner FPW, Marrakchi S, Kirchmeier P, Kim G-J, Ribierre F, et al. (2013) Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans. PLoS Genet 9(6): e1003536. doi:10.1371/journal.pgen.1003536 Editor: Andrew O. M. Wilkie, University of Oxford, United Kingdom Received December 18, 2012; Accepted April 15, 2013; Published June 6, 2013 Copyright: 2013 Radner et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: This study was supported in part by the Centre Nationale de Génotypage (CNG) in Evry, and the Institute of Human Genetics at the University Medical Center Freiburg. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Competing Interests: The authors have declared that no competing interests exist. * E-mail: judith.fischer@uniklinik-freiburg.de . These authors contributed equally to this work.
Organizational climate for innovation and organizational performance : the mediating effect of innovative work behavior

Despite a plethora of literature on organizational climate for innovation and the persuasive arguments establishing its link to organizational performance, few studies hitherto have explored innovative work behavior of managers. Specifically, limited attention has been paid to explaining how organizations perceive the importance of stimulating innovative work environments. Drawing from organizational climate theory, this study investigates the mediating effects of innovative work behavior on the relationship between organizational climate for innovation and organizational performance. Our findings from a survey of 202 managers working in Malaysian companies demonstrate that innovative work behavior plays a mediating role in the relationship between organizational climate for innovation and organizational performance. Implications of these findings and avenues for future research are discussed.
A new role for sphingosine: Up-regulation of Fam20C, the genuine casein kinase that phosphorylates secreted proteins.

Fam20C is an atypical kinase implicated in bio-mineralization and phosphate homeostasis disorders, and has recently been shown to account for the activity of an orphan enzyme ("genuine casein kinase", G-CK) previously characterized for its ability to phosphorylate casein and a plethora of secreted proteins at serine residues specified by the S-x-E/pS motif. Fam20C/G-CK activity is only appreciable in the presence of high Mn2+ concentration (>1 mM), and is negligible if Mn2+ is replaced by physiological Mg2+ concentrations. Here we show that sphingosine (but not its biological precursor ceramide) not only stimulates several-fold Fam20C activity in the presence of Mn2+, but also confers a comparable activity to Fam20C assayed with Mg2+. Activation by sphingosine is evident using a variety of substrates, and is accounted for by both higher Vmax and decreased KmATP, as judged from kinetics run with the β(28-40) substrate peptide and a physiological substrate, BMP-15. Sphingosine also protects Fam20C from thermal inactivation. Consistent with the in vitro results, by treating Fam20C expressing HEK293T cells with myriocin, a potent inhibitor of the sphingosine biosynthetic pathway, the activity of Fam20C released into the conditioned medium is substantially decreased corroborating the concept that sphingosine (or related metabolite(s)) is a co-factor required by Fam20C to optimally display its biological functions. None of the small molecule kinase inhibitors tested so far were able to inhibit Fam20C. Interestingly however fingolimod, an immunosuppressive drug structurally related to sphingosine, used for the treatment of multiple sclerosis, is a powerful activator of Fam20C, both wild type and its pathogenic, loss of function, T268M mutant. This article is part of a Special Issue entitled: Inhibitors of Protein Kinases.
Local feature extraction and matching on range images: 2.5D SIFT

Article history: Received 23 May 2008 Accepted 10 June 2009 Available online 18 August 2009
From External to Internal Regret

External regret compares the performance of an online algorithm, selecting among N actions, to the performance of the best of those actions in hindsight. Internal regret compares the loss of an online algorithm to the loss of a modified online algorithm, which consistently replaces one action by another. In this paper we give a simple generic reduction that, given an algorithm for the external regret problem, converts it to an efficient online algorithm for the internal regret problem. We provide methods that work both in the full information model, in which the loss of every action is observed at each time step, and the partial information (bandit) model, where at each time step only the loss of the selected action is observed. The importance of internal regret in game theory is due to the fact that in a general game, if each player has sublinear internal regret, then the empirical frequencies converge to a correlated equilibrium. For external regret we also derive a quantitative regret bound for a very general setting of regret, which includes an arbitrary set of modification rules (that possibly modify the online algorithm) and an arbitrary set of time selection functions (each giving different weight to each time step). The regret for a given time selection and modification rule is the difference between the cost of the online algorithm and the cost of the modified online algorithm, where the costs are weighted by the time selection function. This can be viewed as a generalization of the previously-studied sleeping experts setting.
The errors, insights and lessons of famous AI predictions - and what they mean for the future

Predicting the development of artificial intelligence (AI) is a difficult project – but a vital one, according to some analysts. AI predictions already abound: but are they reliable? This paper will start by proposing a decomposition schema for classifying them. Then it constructs a variety of theoretical tools for analysing, judging and improving them. These tools are demonstrated by careful analysis of five famous AI predictions: the initial Dartmouth conference, Dreyfus’s criticism of AI, Searle’s Chinese Room paper, Kurzweil’s predictions in the ‘Age of Spiritual Machines’, and Omohundro’s ‘AI Drives’ paper. These case studies illustrate several important principles, such as the general overconfidence of experts, the superiority of models over expert judgement, and the need for greater uncertainty in all types of predictions. The general reliability of expert judgement in AI timeline predictions is shown to be poor, a result that fits in with previous studies of expert competence.//
Evaluation of eye-gaze interaction methods for security enhanced PIN-entry

Personal identification numbers (PINs) are one of the most common ways of electronic authentication these days and used in a wide variety of applications, especially in ATMs (cash machines). A non-marginal amount of tricks are used by criminals to spy on these numbers to gain access to the owners' valuables. Simply looking over the victims' shoulders to get in possession of their PINs is a common one. This effortless but effective trick is known as shoulder surfing. Thus, a less observable PIN entry method is desirable. In this work, we evaluate three different eye gaze interaction methods for PIN-entry, all resistant against these common attacks and thus providing enhanced security. Besides the classical eye input methods we also investigate a new approach of gaze gestures and compare it to the well known classical gaze-interactions. The evaluation considers both security and usability aspects. Finally we discuss possible enhancements for gaze gestures towards pattern based identification instead of number sequences.
Design of permanent magnets to chaoize doubly salient permanent magnet motors for electric compaction

This article proposes and implements a class of chaotic motors for electric compaction. The key is to develop a design approach for the permanent magnets PMs of doubly salient PM DSPM motors in such a way that chaotic motion can be naturally produced. The bifurcation diagram is employed to derive the threshold of chaoization in terms of PM flux, while the corresponding phase-plane trajectories are used to characterize the chaotic motion. A practical three-phase 12/8-pole DSPM motor is used for exemplification. The proposed chaotic motor is critically assessed for application to a vibratory soil compactor, which is proven to offer better compaction performance than its counterparts. Both computer simulation and experimental results are given to illustrate the proposed chaotic motor. © 2006 American Institute of Physics. DOI: 10.1063/1.2165783
Offline RSA algorithms for elastic optical networks with dedicated path protection consideration

In this article, we address the problem of static routing and spectrum allocation (RSA) in an elastic optical network (EON) with dedicated path protection (DPP) consideration. We formulate RSA-DPP as an Integer Linear Programming (ILP) problem. Since RSA is a difficult problem, we propose an Adaptive Frequency Assignment with Dedicated Path Protection (AFA-DPP) heuristic algorithm to provide near-optimal solutions to the problem. We investigate the efficiency of AFA-DPP for a set of network scenarios. Evaluation results show that the proposed algorithm outperforms other reference algorithms.
Peripheral artery disease, diabetes, and reduced lower extremity functioning.

OBJECTIVE
To characterize lower extremity function and dysfunction in peripheral artery disease (PAD) patients with and without diabetes.


RESEARCH DESIGN AND METHODS
In this cross-sectional study, 460 men and women with PAD (147 with diabetes) were recruited from three academic medical centers. Assessments included ankle brachial index (ABI), neuropathy score, 6-min walk distance, 4-m walking velocity, Walking Impairment Questionnaire (0-100 scale, 100 = best), and summary performance score (SPS) (0-12 scale, 12 = best).


RESULTS
The mean ABI was similar in PAD patients with and without diabetes. PAD patients with diabetes were younger, had a higher BMI, had a worse neuropathy score, and had a greater number of cardiovascular comorbidities compared with those without diabetes. Participants with diabetes were less likely to report classical symptoms of intermittent claudication and more likely to report exertional leg pain, which sometimes started at rest. After adjusting for age, those with diabetes had a shorter mean 6-min walk distance (1,040 vs. 1,168 feet, P < 0.001), slower fast-pace 4-m walk velocity (0.83 vs. 0.90 m/sec, P < 0.001), and a lower SPS (7.3 vs. 8.6, P < 0.001) than those without diabetes. Patients with diet-controlled diabetes performed better than those on diabetes medications. Differences in lower extremity functioning between patients with and without diabetes were largely attenuated but not abolished for SPS and fast-pace 4-m walk velocity after adjustment for type of exertional leg pain, neuropathy score, and number of cardiovascular comorbidities.


CONCLUSIONS
Subjects with PAD and diabetes have poorer lower extremity function than those with PAD alone. This difference in functioning appears to be largely explained by diabetes-associated neuropathy, differences in exertional leg symptoms, and greater cardiovascular disease in patients with diabetes.
Combination of molluscicides with attractant carbohydrates and amino acids in bait formulation against the snail Lymnaea acuminata.

AIM
Fascioliasis is an important helminth disease caused by Fasciola (F.) hepatica and F gigantica of Asia and Africa. This disease belongs to the plant-borne trematode zoonoses. Human infection has been reported in 51 different countries from 5 continents. One of the possible approaches to control this problem is to interrupt the life cycle of the parasitic trematodes by eliminating the snail.


MATERIALS AND METHODS
Snails attractant pellets (SAP) were prepared from binary combination of carbohydrate + amino acid (20 mM) in 2% agar solution with active molluscicidal component Ferula asafoetida (ferulic acid, umbelliferone), Syzygium aromaticum (eugenol), Carum carvi (limonene). Attraction of snails to different combinations was studied by using clear glass aquaria having diameter of 30 cm. Each aquarium was divided into four concentric zones; zone-3 (central zone), zone-2 and zone-1 (middie zone) and zone-0 (outer zone) had a diameter of 13, 18, 24, and 30 cm, respectively. The behavioral responses of snails to these binary combinations of carbohydrate and amino acid in bait formulation were examined. The fraction of snails that was in contact with the SAP at different times was used as a measure of attraction.


RESULTS
Among all the binary combination of carbohydrate+amino acid+molluscicide after 2h of experiment, highest attraction of snail (54.71%) was observed towards the SAP containing starch+histidine+limolene. Limonene+ starch+histidine containing SAP emerged as the strongest bait formulation (96h LC50 0.74%) against Lymnaea acuminata.


CONCLUSIONS
The present study suggested that the molluscicides of plant origin could be used with varying degrees of success in bait formulation.
Joint crisis plans for people with psychosis: economic evaluation of a randomized controlled trial

OBJECTIVE
To investigate the cost effectiveness of joint crisis plans, a form of advance agreement for people with severe mental illness.


DESIGN
Single blind randomised controlled trial.


SETTING
Eight community mental health teams in southern England.


PARTICIPANTS
160 people with a diagnosis of psychotic illness or non-psychotic bipolar disorder who had been admitted to hospital at least once within the previous two years.


INTERVENTION
Joint crisis plan formulated by the patient, care coordinator, psychiatrist, and project worker containing contact information, details of illnesses, treatments, relapse indicators, and advance statements of preferences for care for future relapses. Control group was standardised service information.


MAIN OUTCOME MEASURES
Admission to hospital; service use over 15 months.


RESULTS
Use of a joint crisis plan was associated with less service use and lower costs on average than in the standardised service information group, but differences were not significant. Total costs during follow-up were 7264 pounds sterling (10,616 euros, 13,560 dollars) for each participant with a joint crisis plan and 8359 pounds sterling (12,217 euros, 15,609 dollars) for each participant with standardised service information (mean difference 1095 pounds sterling; 95% confidence interval -2814 to 5004). Cost effectiveness acceptability curves, used to explore uncertainty in estimates of costs and effects, suggest there is a greater than 78% probability that joint crisis plans are more cost effective than standardised service information in reducing the proportion of patients admitted to hospital.


CONCLUSION
Joint crisis plans produced a non-significant decrease in admissions and total costs. Though the cost estimates had wide confidence intervals, the associated uncertainty suggests there is a relatively high probability of the plans being more cost effective than standardised service information for people with psychotic disorders.
Mapping API Elements for Code Migration with Vector Representations

Problem. Code migration between languages is challenging partly because different languages require developers to use different software libraries and frameworks. For example, in Java, Java Development Kit library (JDK) is a popular toolkit while .NET is the main framework used in C# software development. Code migration requires not only the mappings between the language constructs (e.g., statements, expressions) but also the mappings among the APIs of the libraries/frameworks used in two languages. For example, in Java, to write to a file, one can use FileWriter.write of FileWriter, and in C#, one can achieve the same function with StreamWriter.Write of StreamWriter. Such mapping is called API mapping.
Development and validation of a risk scoring model to predict net adverse cardiovascular outcomes after primary percutaneous coronary intervention in patients pretreated with 600 mg clopidogrel: rationale and design of the RISK-PCI study.

BACKGROUND
No comprehensive primary PCI (pPCI) risk model to predict net adverse cardiovascular events (NACE) has been reported with the use of clopidogrel 600 mg, which is now considered the standard loading dose. The primary hypothesis of the RISK-PCI trial is that an accurate risk prediction may be achieved by using clinical, angiographic, and procedural variables available at the time of intervention.


METHODS
The present single-center, longitudinal, cohort study will include 1,750 consecutive patients with ST-elevation myocardial infarction (STEMI), undergoing pPCI after pretreatment with 300 mg aspirin and 600 mg clopidogrel. The primary end-points of the trial (NACE) include major adverse cardiovascular events (MACE) and major bleeding. A logistic regression model will be developed to predict 30-day and 1-year NACE after pPCI. A risk score derived from study set data will be validated using validation set data.


RESULTS
Until June 1, 2008, 1,166 patients have been enrolled. Thirty-day follow-up is available in 1,007 patients.


CONCLUSIONS
The RISK-PCI study is designed to develop an accurate risk scoring system, using variables available at the time of intervention, to predict long-term adverse outcomes after pPCI.
Emergency preparedness and public health systems lessons for developing countries.

Low- and middle-income countries, where emerging diseases often make their debut, are also likely to bear the harshest consequences of a potential influenza pandemic. Yet public health systems in developing countries are underfunded, understaffed, and in many cases struggling to deal with the existing burden of disease. As a result, developed countries are beginning to expand assistance for emergency preparedness to the developing world. Given developing countries' weak infrastructure and many competing public health priorities, it is not clear how to best direct these resources. Evidence from the U.S. and other developed countries suggests that some investments in bioterror and pandemic emergency preparedness, although initially implemented as vertical programs, have the potential to strengthen the general public health infrastructure. This experience may hold some lessons for how global funds for emergency preparedness could be invested in developing countries to support struggling public health systems in responding to current health priorities as well as potential future public health threats.
Pulmonary hemorrhage: Imaging with a new magnetic resonance blood pool agent in conjunction with breathheld three-dimensional magnetic resonance angiography

Purpose: To describe the three-dimensional magnetic resonance angiography (3D MRA) imaging appearance of the pulmonary arteries following administration of a superparamagnetic iron oxide blood pool agent to human volunteers, and to demonstrate in an animal model (pigs) how this technique can be used to detect pulmonary parenchymal hemorrhage. Methods: Two volunteers were examined following the intravenous administration of a superparamagnetic iron oxide blood pool agent (NC100150 Injection, Nycomed Amersham Imaging, Wayne, PA, USA). T1-weighted 3D gradient recalled echo (GRE) image sets (TR/TE 5.1/1.4 msec, flip angle 30°) were acquired breathheld over 24 sec. To assess the detectability of pulmonary bleeding with intravascular MR contrast, pulmonary parenchymal injuries were created in two animals under general anesthesia, and fast T1-weighted 3D GRE image sets collected before and after the injury. Results: Administration of the intravascular contrast in the two volunteers resulted in selective enhancement of the pulmonary vasculature permitting complete visualization and excellent delineation of central, segmental, and subsegmental arteries. Following iatrogenic injury in the two animals, pulmonary hemorrhage was readily detected on the 3D image sets. Conclusion: The data presented illustrate that ultrafast 3D GRE MR imaging in conjunction with an intravenously administered intravascular blood pool agent can be used to perform high-quality pulmonary MRA as well as to detect pulmonary hemorrhage.
Self-monitoring and psychoeducation in bipolar patients with a smart-phone application (SIMPLe) project: design, development and studies protocols

BACKGROUND
New technologies have recently been used for monitoring signs and symptoms of mental health illnesses and particularly have been tested to improve the outcomes in bipolar disorders. Web-based psychoeducational programs for bipolar disorders have also been implemented, yet to our knowledge, none of them have integrated both approaches in one single intervention. The aim of this project is to develop and validate a smartphone application to monitor symptoms and signs and empower the self-management of bipolar disorder, offering customized embedded psychoeducation contents, in order to identify early symptoms and prevent relapses and hospitalizations.


METHODS/DESIGN
The project will be carried out in three complementary phases, which will include a feasibility study (first phase), a qualitative study (second phase) and a randomized controlled trial (third phase) comparing the smartphone application (SIMPLe) on top of treatment as usual with treatment as usual alone. During the first phase, feasibility and satisfaction will be assessed with the application usage log data and with an electronic survey. Focus groups will be conducted and technical improvements will be incorporated at the second phase. Finally, at the third phase, survival analysis with multivariate data analysis will be performed and relationships between socio-demographic, clinical variables and assessments scores with relapses in each group will be explored.


DISCUSSION
This project could result in a highly available, user-friendly and not costly monitoring and psychoeducational intervention that could improve the outcome of people suffering from bipolar disorders in a practical and secure way.


TRIAL REGISTRATION
Clinical Trials.gov: NCT02258711 (October 2014).