164 research outputs found
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
No full textStaretz-Chacham O, Schlotawa L, Wormser O, et al. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine. 2020;8(9): e1167.BACKGROUND: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents.; METHODS: We collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model.; RESULTS: We report on two MSD patients-the first neonatal type reported in Israel-both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C>T, p.A348V). Functional analysis revealed that the SUMF1-encoded variant of formylglycine-generating enzyme is highly instable and lacks catalytic function.; CONCLUSION: The obtained results confirm genotype-phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc
An Entropic Estimator for Linear Inverse Problems
No full textIn this paper we examine an Information-Theoretic method for solving noisy linear inverse estimation<em> </em>problems which encompasses under a single framework a whole class of estimation methods. Under this framework, the prior information about the unknown parameters (when such information exists), and constraints on the parameters can be incorporated in the statement of the problem. The method builds on the basics of the maximum entropy principle and consists of transforming the original problem into an estimation of a probability density on an appropriate space naturally associated with the statement of the problem. This estimation method is generic in the sense that it provides a framework for analyzing non-normal models, it is easy to implement and is suitable for all types of inverse problems such as small and or ill-conditioned, noisy data. First order approximation, large sample properties and convergence in distribution are developed as well. Analytical examples, statistics for model comparisons and evaluations, that are inherent to this method, are discussed and complemented with explicit examples
Determination of elevated eosinophil to lymphocyte ratio, eosinophil to neutrophil ratio, eosinophil to monocyte ratio and its association with severe vitiligo: A retrospective cohort study.
No full textBackgroundHematological markers such as eosinophil-to-lymphocyte (ELR), eosinophil-to-neutrophil (ENR), and eosinophil-to-monocyte (EMR) ratios may be used in the assessment of skin diseases. However, the relationship with vitiligo remains unclear.ObjectivesWe investigated ELR, ENR, and EMR in vitiligo patients and the association with severe vitiligo.MethodsThis study included patients of all ages diagnosed with vitiligo between 2005-2020. ELR, EMR, and ENR were calculated from complete blood counts within 30 days of the first recorded vitiligo diagnosis and 12-18 months before the vitiligo diagnosis. We evaluated the associations between ELR, ENR, and EMR and vitiligo.Results9,826 vitiligo patients (8,398 adults and 1,428 children) and 8,951 age and sex-matched controls were included in this study. We found that ELR, EMR, and ENR were higher in children than in adults. Patients with vitiligo had higher ENR and EMR than their matched controls. Patients with severe vitiligo had higher ELR, ENR, and EMR compared to patients with mild vitiligo. Patients with increased ENR and EMR 12-18 months before the vitiligo diagnosis had a higher chance of having severe vitiligo (ENR: OR = 7.40, pConclusionELR, ENR, and EMR may be used in the assessment and prognosis of vitiligo, especially in severe cases
HANSEN: Human and AI Spoken Text Benchmark for Authorship Analysis
No full textAuthorship Analysis, also known as stylometry, has been an essential aspect of Natural Language Processing (NLP) for a long time. Likewise, the recent advancement of Large Language Models (LLMs) has made authorship analysis increasingly crucial for distinguishing between human-written and AI-generated texts. However, these authorship analysis tasks have primarily been focused on written texts, not considering spoken texts. Thus, we introduce the largest benchmark for spoken texts - HANSEN (Human ANd ai Spoken tExt beNchmark).
HANSEN encompasses meticulous curation of existing speech datasets accompanied by transcripts, alongside the creation of novel AI-generated spoken text datasets. Together, it comprises 17 human datasets, and AI-generated spoken texts created using 3 prominent LLMs: ChatGPT, PaLM2, and Vicuna13B. To evaluate and demonstrate the utility of HANSEN, we perform Authorship Attribution (AA) & Author Verification (AV) on human-spoken datasets and conducted Human vs. AI spoken text detection using state-of-the-art (SOTA) models. While SOTA methods, such as, character ngram or Transformer-based model, exhibit similar AA & AV performance in human-spoken datasets compared to written ones, there is much room for improvement in AI-generated spoken text detection. The HANSEN benchmark is available at: https://huggingface.co/datasets/HANSEN-REPO/HANSEN
Acute liver failure in a pediatric patient with congenital dyserythropoietic anemia type I treated with deferasirox
No full textCongenital dyserythropoietic anemias (CDA) represent a heterogeneous group of disorders characterized by morphological abnormalities of erythroid precursor cells and various degrees of hemolysis. Iron overload is a result of continuous hemolysis and recurrent transfusions. It is treated with iron chelators, including deferasirox. We present here a case of acute liver failure in a 12 years old girl with CDA type I treated with deferasirox and discuss the approach to treatment
Golan Haji, L'autunno, qui, è magico e immenso (raccolta poetica siriana)
No full textItalian translation of a poetry collection by Kurdish-Syrian poet Golan Haji. The author composed these prose poems in different moments of his literary career: some before the peaceful uprising that started in Syria on March 15, 2011, and was soon defaced by a fierce civil war; and the other ones between 2012 and 2013. The Italian translation is side by side the original Arabic texts
Legal Aspects of International Security in the Near East with Focus on the Golan Heights
No full textTato práce se zabývá právními aspekty mezinárodní bezpečnosti na Blízkém východě a zaměřuje se na Golanské výšiny. Cílem práce je posouzení míry vlivu mezinárodních organizací na dosažení mezinárodní bezpečnosti na Blízkém východě. Autor vychází z analýzy dostupných textů v českém jazyce i z cizojazyčné literatury. Práce sestává ze čtyř kapitol, z nichž první se zabývá otázkou mezinárodní bezpečnosti na Blízkém východě. Druhá kapitola se soustřeďuje na problematiku spojenou s Golanskými výšinami v souvislosti s bezpečnostní situací zejména po roce 1967. Třetí kapitola pojednává o roli mezinárodních organizací při zajišťování míru a bezpečnosti na Blízkém východě. Poslední kapitola sleduje mírový proces na Blízkém východě a nastiňuje perspektivy řešení blízkovýchodního konfliktu.Katedra mezinárodního právaObhájenoThe thesis looks into the issue of legal aspects of international security in the Near East with focus on the Golan Heights. The aim of the thesis is to shed light on the success/ failure of international organizations in securing and maintaining peace and international security in the Near East.The author analyses both Czech and foreign texts dealing with the topic. The thesis consists of four chapters. The first chapter examines the issue of international security in the Near East. The second chapter focuses on the situation in the Golan Heights mainly after 1967. The third chapter looks at the role played by international organizations in maintaining peace and security in the Near East. The last chapter presents the main events of the peace process in the Near East and outlines the prospects of the resolution of the Near Eastern conflict
The Word2vec Graph Model for Author Attribution and Genre Detection in Literary Analysis
No full textAnalyzing the writing styles of authors and articles is a key to supporting
various literary analyses such as author attribution and genre detection. Over
the years, rich sets of features that include stylometry, bag-of-words, n-grams
have been widely used to perform such analysis. However, the effectiveness of
these features largely depends on the linguistic aspects of a particular
language and datasets specific characteristics. Consequently, techniques based
on these feature sets cannot give desired results across domains. In this
paper, we propose a novel Word2vec graph based modeling of a document that can
rightly capture both context and style of the document. By using these Word2vec
graph based features, we perform classification to perform author attribution
and genre detection tasks. Our detailed experimental study with a comprehensive
set of literary writings shows the effectiveness of this method over
traditional feature based approaches. Our code and data are publicly available
at https://cutt.ly/svLjSgkComment: 12 pages, 6 figure
Israeli pediatricians’ confidence level in diagnosing and treating children with skin disorders: a cross-sectional questionnaire pilot study
No full textBackgroundPediatricians daily see large numbers of patients with skin disorders. However, they encounter limited guidance as a result of a marked deficiency in pediatric dermatologists. Hence, reevaluation of training opportunities during pediatric residency has become essential. Our aim was to evaluate the confidence level of pediatric residents and specialists in diagnosing and treating skin disorders in children and to determine career and training-related characteristics that influence it.MethodsConducted as a cross-sectional study, we administered a questionnaire to 171 pediatricians across Israel. We assessed respondents’ self-efficacy about their ability to diagnose and treat skin disorders and collected data regarding their previous dermatology training and preferred training methods.Results77.8% of respondents reported below or average self-efficacy scores in diagnosing and managing children with skin disorders. Older age (>40 years old; OR = 5.51, p = 0.019), treating a higher number of patients with skin disorders (OR = 2.96, p = 0.032), and having any training in dermatology, either during medical school or residency (OR = 7.16, p = 0.031, OR = 11.14, p = 0.003 respectively), were all significant parameters involved in pediatricians reporting high self-efficacy in skin disorder management.ConclusionMost pediatric residents and pediatricians have average or below-average confidence in managing pediatric skin disorders. We suggest incorporating dermatology rotations during pediatric residency to improve young pediatricians’ self-efficacy in managing skin disorders and ultimately help pediatricians provide better care for patients presenting with dermatological conditions. These findings can ultimately help refine a pilot program in dermatology that might be implemented during pediatric residency
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