LLukas22/scidocs huggingface dataset:
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome

PURPOSE
Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined.


METHODS
Homozygosity analysis was employed to map the causative locus using DNA samples from four probands of Cree ancestry. After single nucleotide polymorphism (SNP) genotyping, data were analyzed and exported to PLINK to identify regions identical by descent (IBD) and common to the probands. Candidate genes within and adjacent to the IBD interval were sequenced to identify pathogenic variants, with analyses of potential deletions or duplications undertaken using the B-allele frequency and log(2) ratio of SNP signal intensity.


RESULTS
Although no shared IBD region >1 Mb was evident on preliminary analysis, adjusting the criteria to permit the detection of smaller homozygous IBD regions revealed one 330 Kb segment on chromosome 9p22.3 present in all 4 probands. This interval comprising 152 SNPs, lies 16 Kb downstream of FRAS1-related extracellular matrix protein 1 (FREM1), and no copy number variations were detected either in the IBD region or FREM1. Subsequent sequencing of both genes in the IBD region, followed by FREM1, did not reveal any mutations.


CONCLUSIONS
This study illustrates the utility of studying geographically isolated populations to identify genomic regions responsible for disease through analysis of small numbers of affected individuals. The location of the IBD region 16 kb from FREM1 suggests the phenotype in these patients is attributable to a variant outside of FREM1, potentially in a regulatory element, whose identification may prove tractable to next generation sequencing. In the context of recent identification of FREM1 coding mutations in a proportion of MOTA cases, characterization of such additional variants offers scope both to enhance understanding of FREM1's role in cranio-facial biology and may facilitate genetic counselling in populations with high prevalences of MOTA to reduce the incidence of this disorder.
Practical and Optimal LSH for Angular Distance

We show the existence of a Locality-Sensitive Hashing (LSH) family for the angular distance that yields an approximate Near Neighbor Search algorithm with the asymptotically optimal running time exponent. Unlike earlier algorithms with this property (e.g., Spherical LSH [1, 2]), our algorithm is also practical, improving upon the well-studied hyperplane LSH [3] in practice. We also introduce a multiprobe version of this algorithm and conduct an experimental evaluation on real and synthetic data sets. We complement the above positive results with a fine-grained lower bound for the quality of any LSH family for angular distance. Our lower bound implies that the above LSH family exhibits a trade-off between evaluation time and quality that is close to optimal for a natural class of LSH functions.
A Simple Combinatorial Proof of Duality of Multiroute Flows and Cuts

A classical flow is a nonnegative linear combination of unit flows along simple paths. A multiroute flow, first considered by Kishimoto and Takeuchi, generalizes this concept. The basic building blocks are not single paths with unit flows but rather tuples consisting of k edge disjoint paths, each path with a unit flow. A multiroute flow is a nonnegative linear combination of such tuples. We present a simple combinatorial proof of the duality theorem for multiroute flows and cuts and its corollary which characterizes multiroute flows in terms of classical flows. Specifically, we show that a (classical) flow of size F is a k-flow if and only if the flow through every edge is at most F/k. This duality then immediately yields an efficient algorithm. 1 On leave from Department of Applied Mathematics, Faculty of Mathematics and Physics, Charles University in Prague, Czech Republic Email addresses: {bagchi,amic}@ics.uci.edu (Amitabha Bagchi, Amitabh Chaudhary), kolman@cs.ucr.edu (Petr Kolman), sgall@math.cas.cz (Jǐŕı Sgall). Preprint submitted to Elsevier Science 14 March 2004
Penile injection with silicone: case report and review of the literature.

INTRODUCTION
Liquid injectable silicone (LIS) has been used for soft tissue augmentation in excess of 50 years. Until recently, all literature on penile augmentation with LIS consisted of case reports or small cases series, most involving surgical intervention to correct the complications of LIS. New formulations of LIS and new methodologies for injection have renewed interest in this procedure.


AIM
We reported a case of penile augmentation with LIS and reviewed the pertinent literature.


METHODS
Comprehensive literature review was performed using PubMed. We performed additional searches based on references from relevant review articles.


RESULTS
Injection of medical grade silicone for soft tissue augmentation has a role in carefully controlled study settings. Historically, the use of LIS for penile augmentation has had poor outcomes and required surgical intervention to correct complications resulting from LIS.


CONCLUSIONS
We currently discourage the use of LIS for penile augmentation until carefully designed and evaluated trials have been completed.
Management of Acute and Recurrent Gout: A Clinical Practice Guideline From the American College of Physicians.

Description
The American College of Physicians (ACP) developed this guideline to present the evidence and provide clinical recommendations on the management of gout.


Methods
Using the ACP grading system, the committee based these recommendations on a systematic review of randomized, controlled trials; systematic reviews; and large observational studies published between January 2010 and March 2016. Clinical outcomes evaluated included pain, joint swelling and tenderness, activities of daily living, patient global assessment, recurrence, intermediate outcomes of serum urate levels, and harms.


Target Audience and Patient Population
The target audience for this guideline includes all clinicians, and the target patient population includes adults with acute or recurrent gout.


Recommendation 1
ACP recommends that clinicians choose corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), or colchicine to treat patients with acute gout. (Grade: strong recommendation, high-quality evidence).


Recommendation 2
ACP recommends that clinicians use low-dose colchicine when using colchicine to treat acute gout. (Grade: strong recommendation, moderate-quality evidence).


Recommendation 3
ACP recommends against initiating long-term urate-lowering therapy in most patients after a first gout attack or in patients with infrequent attacks. (Grade: strong recommendation, moderate-quality evidence).


Recommendation 4
ACP recommends that clinicians discuss benefits, harms, costs, and individual preferences with patients before initiating urate-lowering therapy, including concomitant prophylaxis, in patients with recurrent gout attacks. (Grade: strong recommendation, moderate-quality evidence).
Marketing strategy: taxonomy and frameworks

Purpose – The purpose of this paper is to present taxonomy of marketing strategy concepts and integrative frameworks that differentiate and integrate its formulation and implementation processes. Design/methodology/approach – The paper is conceptual based on a review of academic literature on marketing strategy chronicled in major marketing journals January 1990-April 2006. We present selected references classified by key marketing strategy topics for further pursuit by interested readers. Also, the paper reflects our experience and views based on practices chronicled in corporate case studies and trade journals. Findings – The literature casts marketing strategy formulation and implementation in the context of strategic planning and marketing strategy process models. The focus of the strategic planning model is on achieving corporate financial objectives through the implementation of product, pricing, promotion, and place (distribution) programs. The focus of the marketing strategy process model is on the formulation of segmentation, targeting, differentiation, and positioning strategies to create, communicate, and deliver the value to the customer resulting in gaining customer satisfaction and loyalty; i.e. marketing objectives. Practical implications – The propositions and frameworks constitute guidelines useful in the process of marketing strategy formulations and implementation by practitioners and establish bases for academic researchers to test concept validity, examine concept differences, and explore concept relationships. Originality/value – This paper advances propositions that clearly differentiate, but interrelate, marketing strategy formulation and implementation processes and recast the strategic planning financial-oriented model and the marketing strategy process models into a set of frameworks to demonstrate that: the road to healthy financial results must first be paved by sound marketing strategies; explicitly state and underscore the role of branding and organizational strategies in mediating formulated marketing strategy into actionable marketing programs; and broaden the concept of firm orientation to reflect its role in mediating corporate strategy into a set of functional strategies including marketing.
Clinical characteristics of Pneumocystis pneumonia in non-HIV patients and prognostic factors including microbiological genotypes

BACKGROUND
The number of patients with non-HIV Pneumocystis pneumonia (PCP) is increasing with widespread immunosuppressive treatment. We investigated the clinical characteristics of non-HIV PCP and its association with microbiological genotypes.


METHODS
Between January 2005 and March 2010, all patients in 2 university hospitals who had been diagnosed with PCP by PCR were enrolled in this study. Retrospective chart review of patients, microbiological genotypes, and association with 30-day mortality were examined.


RESULTS
Of the 82 adult patients investigated, 50 patients (61%) had inflammatory diseases, 17 (21%) had solid malignancies, 12 (15%) had hematological malignancies, and 6 (7%) had received transplantations. All patients received immunosuppressive agents or antitumor chemotherapeutic drugs. Plasma (1→3) β-D-glucan levels were elevated in 80% of patients, and were significantly reduced after treatment in both survivors and non-survivors. However, β-D-glucan increased in 18% of survivors and was normal in only 33% after treatment. Concomitant invasive pulmonary aspergillosis was detected in 5 patients. Fifty-six respiratory samples were stored for genotyping. A dihydropteroate synthase mutation associated with trimethoprim-sulfamethoxazole resistance was found in only 1 of the 53 patients. The most prevalent genotype of mitochondrial large-subunit rRNA was genotype 1, followed by genotype 4. The most prevalent genotype of internal transcribed spacers of the nuclear rRNA operon was Eb, followed by Eg and Bi. Thirty-day mortality was 24%, in which logistic regression analysis revealed association with serum albumin and mechanical ventilation, but no association with genotypes.


CONCLUSIONS
In non-HIV PCP, poorer general and respiratory conditions at diagnosis were independent predictors of mortality. β-D-glucan may not be useful for monitoring the response to treatment, and genotypes were not associated with mortality.
Toward dynamic ensembles: the BAGA approach

Summary form only given. Existing studies on ensemble classifiers typically take a static approach in assembling individual classifiers, in which all the important features are specified in advance. In this paper, we propose a new concept, dynamic ensemble, as an advanced classifier that could have dynamic component classifiers and have dynamic configurations. Toward this goal, we have substantially expanded the existing "overproduce and choose" paradigm for ensemble construction. A new algorithm called BAGA is proposed to explore this approach. Taking a set of decision tree component classifiers as input, BAGA generates a set of candidate ensembles using combined bagging and genetic algorithm techniques so that component classifiers are determined at execution time. Empirical studies have been carried out on variations of the BAGA algorithm, where the sizes of chosen classifiers, effects of bag size, voting function and evaluation functions on the dynamic ensemble construction, are investigated.
Gender Classification Using Local Directional Pattern (LDP)

In this paper, we present a novel texture descriptor Local Directional Pattern (LDP) to represent facial image for gender classification. The face area is divided into small regions, from which LDP histograms are extracted and concatenated into a single vector to efficiently represent the face image. The classification is performed by using support vector machines (SVMs), which had been shown to be superior to traditional pattern classifiers in gender classification problem. Experimental results show the superiority of the proposed method on the images collected from FERET face database and achieved 95.05% accuracy.
Devanagari Isolated Character Recognition by using Statistical features ( Foreground Pixels Distribution, Zone Density and Background Directional Distribution feature and SVM Classifier)

In this paper, we present a methodology for off-line Isolated handwritten Devanagari character recognition. The proposed methodology relies on a three feature extraction techniques. The first technique is based on recursive subdivisions of the character image so that the resulting sub-images at each iteration have balanced (approximately equal) numbers of foreground pixels, as far as this is possible. Second technique is based on the zone density of the pixel and third is based on the directional distribution of neighboring background pixels to foreground pixels. The 314 sized feature vector is form from the three feature extraction techniques for a handwritten Devanagari character. The dataset (12240 samples) of handwritten Devanagari Character, have been prepared by writing the different – 2 people who belongs to different age group and obtained the 94.89 % recognition accuracy. KeywordsDavanagari Character Recognition, Forground pixel, Zone density, Background directional distribution, Support Vector Machine
Multi-modal Capsule Routing for Actor and Action Video Segmentation Conditioned on Natural Language Queries

In this paper, we propose an end-to-end capsule network for pixel level localization of actors and actions present in a video. The localization is performed based on a natural language query through which an actor and action are specified. We propose to encode both the video as well as textual input in the form of capsules, which provide more effective representation in comparison with standard convolution based features. We introduce a novel capsule based attention mechanism for fusion of video and text capsules for text selected video segmentation. The attention mechanism is performed via joint EM routing over video and text capsules for text selected actor and action localization. The existing works on actor-action localization are mainly focused on localization in a single frame instead of the full video. Different from existing works, we propose to perform the localization on all frames of the video. To validate the potential of the proposed network for actor and action localization on all the frames of a video, we extend an existing actor-action dataset (A2D) with annotations for all the frames. The experimental evaluation demonstrates the effectiveness of the proposed capsule network for text selective actor and action localization in videos, and it also improves upon the performance of the existing state-of-the art works on single frame-based localization. Figure 1: Overview of the proposed approach. For a given video, we want to localize the actor and action which are described by an input textual query. Capsules are extracted from both the video and the textual query, and a joint EM routing algorithm creates high level capsules, which are further used for localization of selected actors and actions.
Sedative and anxiolytic effects of methanolic extract from the leaves of Passiflora actinia

Leaves from several Passiflora species are largely employed in the Brazilian folk medicine as anxiolytic and sedative. In this work the anxiolytic, sedative-lik e properties and liquid chromatography analysis of methanolic extract of Passiflora actinia were evaluated. The methanol extract and all of it s fractions presented significant sedative-like effect in elevated plus-maze and open field tests. Only the aqueous fraction of the meth anol extract showed selective anxiolytic activity (30 mg/kg). Ch romatographic analysis of the active fractions show ed the presence of isovitexin and absence of the classical Passiflora β-carboline alkaloids or flavonoids such as vitexin, rutin, swertisin, hesperidin and orientin. The tinc ure obtained from P. actinia leaves presented 0.27 mg/ml of isovitexin and absence of vitexin.
Acute torsion of uterine leiomyoma: CT features

Acute torsion of a subserosal leiomyoma is a rare acute condition that is infrequently diagnosed preoperatively. It is a recognized surgical emergency, especially when additional systemic symptoms are associated. There are two main differential diagnoses: ovary/adnexal torsion and massive infarct inside a common leiomyoma. The diagnosis can be established by computed tomographic features. Ultrasound examination is less sensitive.
The Quest to Automate Fact-checking

The growing movement of political fact-checking plays an important role in increasing democratic accountability and improving political discourse [7, 3]. Politicians and media figures make claims about “facts” all the time, but the new army of fact-checkers can often expose claims that are false, exaggerated or half-truths. The number of active fact-checking websites has grown from 44 a year ago to 64 this year, according the Duke Reporters’s Lab. 1 The challenge is that the human fact-checkers frequently have difficulty keeping up with the rapid spread of misinformation. Technology, social media and new forms of journalism have made it easier than ever to disseminate falsehoods and half-truths faster than the fact-checkers can expose them. There are several reasons that the falsehoods frequently outpace the truth. One reason is that fact-checking is an intellectually demanding and laborious process. It requires more research and a more advanced style of writing than ordinary journalism. The difficulty of fact-checking, exacerbated by a lack of resources for investigative journalism, leaves many harmful claims unchecked, particularly at the local level. Another reason is that fact-checking is time-consuming. It takes about one day to research and write a typical article, which means a lot of time can lapse after the political message. Even if the fact-check has already been published, the voter must undertake research to look it up. This “gap” in time and availability limits the effectiveness of fact-checking. Computation may hold the key to far more effective and efficient fact-checking, as Cohen et al. [1, 2] and Diakopolous 2 have pointed out. Over and over again, computing has reshaped journalism. Tasks that required huge amounts of manual labor such as analyzing data and finding patterns and relationships are now accomplished with ease. There
Estimating quality adjusted progression free survival of first-line treatments for EGFR mutation positive non small cell lung cancer patients in The Netherlands

BACKGROUND
Gefitinib, a tyrosine kinase inhibitor, is an effective treatment in advanced non-small cell lung cancer (NSCLC) patients with an activating mutation in the epidermal growth factor receptor (EGFR). Randomised clinical trials showed a benefit in progression free survival for gefitinib versus doublet chemotherapy regimens in patients with an activated EGFR mutation (EGFR M+). From a patient perspective, progression free survival is important, but so is health-related quality of life. Therefore, this analysis evaluates the Quality Adjusted progression free survival of gefitinib versus three relevant doublet chemotherapies (gemcitabine/cisplatin (Gem/Cis); pemetrexed/cisplatin (Pem/Cis); paclitaxel/carboplatin (Pac/Carb)) in a Dutch health care setting in patients with EGFR M+ stage IIIB/IV NSCLC. This study uses progression free survival rather than overall survival for its time frame in order to better compare the treatments and to account for the influence that subsequent treatment lines would have on overall survival analysis.


METHODS
Mean progression free survival for Pac/Carb was obtained by extrapolating the median progression free survival as reported in the Iressa-Pan-Asia Study (IPASS). Data from a network meta-analysis was used to estimate the mean progression free survival for therapies of interest relative to Pac/Carb. Adjustment for health-related quality of life was done by incorporating utilities for the Dutch population, obtained by converting FACT-L data (from IPASS) to utility values and multiplying these with the mean progression free survival for each treatment arm to determine the Quality Adjusted progression free survival. Probabilistic sensitivity analysis was carried out to determine 95% credibility intervals.


RESULTS
The Quality Adjusted progression free survival (PFS) (mean, (95% credibility interval)) was 5.2 months (4.5; 5.8) for Gem/Cis, 5.3 months (4.6; 6.1) for Pem/Cis; 4.9 months (4.4; 5.5) for Pac/Carb and 8.3 (7.0; 9.9) for gefitinib.


CONCLUSIONS
In the Dutch health care setting, the previously established progression free survival benefit of first-line gefitinib in advanced NSCLC EGFR M+ patients in comparison to standard doublet chemotherapy is further supported by the Quality Adjusted PFS, which takes into account the additional health-related quality of life benefits of gefitinib over doublet chemotherapy.
Ethical hackers: putting on the white hat

“Web applications have become increasingly complex and highly vulnerable,” says Peter Wood, member of the ISACA Security Advisory Group and CEO of First Base Technologies. “Social networking sites, consumer technologies – smartphones, tablets etc – and cloud services are all game changers this year. More enterprises are now requesting social engineering tests, which shows an increased awareness of threats beyond website attacks.”