Miracle-dz/UniFAR-FTUs huggingface dataset:
Autoimmune nodopathy with anti-contactin 1 antibody characterized by cerebellar dysarthria: a case report and literature review

Background Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria. Methods A 25-year-old man was admitted to our hospital due to progressive dysarthria with limb tremors. The patient was initially diagnosed with peripheral neuropathy at a local hospital. Three years after onset, he was admitted to our hospital due to dysarthria, apparent limb tremor, and limb weakness. At that time, he was diagnosed with spinocerebellar ataxia. Eight years post-onset, during his second admission, his condition had notably deteriorated. His dysarthria had evolved to typical distinctive cerebellar characteristics, such as tremor, loud voice, stress, and interrupted articulation. Additionally, he experienced further progression in limb weakness and developed muscle atrophy in the distal limbs. Magnetic resonance imaging (MRI), nerve conduction studies (NCS), and autoimmune antibody tests were performed. Results The results of the NCS suggested severe demyelination and even axonal damage to the peripheral nerves. MRI scans revealed diffuse thickening of bilateral cervical nerve roots, lumbosacral nerve roots, cauda equina nerve, and multiple intercostal nerve root sheath cysts. Furthermore, anti-CNTN1 antibody titers were 1:10 in the cerebrospinal fluid (CSF) and 1:100 in the serum. After one round of rituximab treatment, the patient showed significant improvement in limb weakness and dysarthria, and the CSF antibodies turned negative. Conclusion Apart from peripheral neuropathies, cerebellar dysarthria (central nervous system involvement) should not be ignored in AN patients with CNTN1 antibodies.
Transcriptional Regulation of NF-E2 p45-related Factor (NRF2) Expression by the Aryl Hydrocarbon Receptor-Xenobiotic Response Element Signaling Pathway

The aryl hydrocarbon receptor (AHR) and NF-E2 p45-related factor (NRF2) are two distinct transcription factors involved in the regulation of drug-metabolizing enzymes. Increasing evidence from several studies implies that AHR and NRF2 have direct links, but the molecular mechanism remains unknown. In this work we demonstrate for the first time that Nrf2 gene transcription is directly modulated by AHR activation. DNA sequence analyses of the mouse Nrf2 promoter revealed one xenobiotic response element (XRE)-like element (XREL1) located at –712 and two additional XRE-like elements located at +755 (XREL2) and +850 (XREL3). Functional analysis using luciferase assay showed that XREL1, XREL2, and XREL3 are all inducible by 2,3,7,8-tetrachlorodibenzo-p-dioxin treatment, with XREL2 being the most potent. The functionality of these XRE-like elements was further confirmed by mutagenesis and gel shift experiments. Finally, we used chromatin immunoprecipitation assay to show a direct binding of AHR to the Nrf2 promoter. Cells with silenced AHR expression using siRNA also lost NRF2 mRNA induction by 2,3,7,8-tetrachlorodibenzo-p-dioxin. These new data position NRF2-antioxidant response element downstream in the AHR-XRE pathway. Moreover, direct regulation of NRF2 by AHR contributes to couple phase I and II enzymes into an integrated system facilitating more effective xenobiotic and carcinogen detoxification.
Longitudinal patterns of leukoaraiosis and brain atrophy in symptomatic small vessel disease

The relationship between white matter hyperintensity (WMH) progression and brain atrophy in small vessel disease is unclear. In a longitudinal study, Lambert et al. show that WMH progression occurs more rapidly within the long association fasciculi, and is associated with accelerated cortical atrophy. Preventing WMH progression may reduce secondary degeneration.
Cerebral Malaria

The figures of the past three years at the Tata Main Hospital, Jamshedpur, reveal that malignant tertian infection formed 31.8 per cent, 41.1 per cent and 53.4 per cent of the total malaria cases seen during the years 1947, 1948 and 1949, respectively. For the purpose of comparison of the treatment of cerebral malaria I have analysed the figures of 1945 and 1946 and compared them with the figures of 1948 and 1949. The year 1947 has been omitted as that was the year during which some of the cases were treated with the old method and some with the new.
A First Implementation of Parallel IO in Chapel for Block Data Distribution

This paper presents our preliminary implementations of parallel IO routines in Chapel, a high-productivity parallel language for large-scale systems. The IO functions are implemented using standard Chapel features, taking POSIX as the IO middleware layer and Lustre as the target parallel file system. In this work, we focus on the Chapel Block data distribution, for which we propose different algorithms to perform the file read and write operations. We pay particular attention to the collective writing operation, for which we evaluate different strategies. Our algorithms take into account some of the Lustre file system parameters that can have an impact on the write operation performance. Through our evaluation we find that a more careful selection of the stripe pattern (a feature of the Lustre system), as well as the appropriate selection of the number of IO processes that perform the IO calls, should be taken into account to better tune the performance. In addition, we compare our implementations with the ROMIO library, the de facto parallel IO standard, finding that we achieve comparable results with our higher level approach.
Soluble CD163 and mannose receptor associate with chronic hepatitis B activity and fibrosis and decline with treatment

Liver macrophages are activated in chronic hepatitis B virus (CHB) infection and play a pivotal role in hepatic inflammation and fibrosis. However, their role during antiviral treatment is unclear. The soluble (s) macrophage activation markers, sCD163 and mannose receptor (sMR), are released during liver damage, and their serum levels reflect liver disease severity and portal hypertension. We aimed to investigate associations between sCD163 and sMR and histopathological activity and fibrosis and changes in sCD163, sMR, and hepatic CD163‐expression following antiviral treatment in CHB patients.
Zertifizierte Fortbildung

1 Institut für Pharmazie, Freie Universität Berlin, Berlin, Deutschland 2 Arzneimittelkommission der Deutschen Apotheker (AMK), Berlin, Deutschland 3 Department Universitäts-Herzzentrum, Klinik für Kardiologie und Angiologie, Klinische Pharmakologie, Universitätsklinikum Freiburg, Bad Krozingen, Deutschland 4 Klinik und Poliklinik für Kardiologie, Universitätsklinikum Leipzig, Leipzig, Deutschland
Genomic Imprinting

BACKGROUND: Genomic imprinting is the inheritance out of Mendelian borders. Many of inherited diseases and human development violates Mendelian law of inheritance, this way of inheriting is studied by epigenetics. AIM: The aim of this review is to analyze current opinions and options regarding to this way of inheriting. RESULTS: Epigenetics shows that gene expression undergoes changes more complex than modifications in the DNA sequence; it includes the environmental influence on the gametes before conception. Humans inherit two alleles from mother and father, both are functional for the majority of the genes, but sometimes one is turned off or “stamped” and doesn’t show in offspring, that gene is imprinted. Imprinting means that that gene is silenced, and gene from other parent is expressed. The mechanisms for imprinting are still incompletely defined, but they involve epigenetic modifications that are erased and then reset during the creation of eggs and sperm. Genomic imprinting is a process of silencing genes through DNA methylation. The repressed allele is methylated, while the active allele is unmethylated. The most well-known conditions include Prader- Willi syndrome, and Angelman syndrome. Both of these syndromes can be caused by imprinting or other errors involving genes on the long arm of chromosome 15. CONCLUSIONS: Genomic imprinting and other epigenetic mechanisms such as environment is shown that plays role in offspring neurodevelopment and autism spectrum disorder.
Immunogenicity and Safety of an Investigational Hexavalent Diphtheria-tetanus-acellular Pertussis-inactivated Poliovirus-hepatitis B-Haemophilus influenzae B Conjugate Combined Vaccine in Healthy 2-, 4-, and 6-month-old Argentinean Infants

Background and Aims: Assessment of a new, fully liquid, investigational hexavalent DTaP-IPV-Hep B-PRP-T vaccine (Hexaxim, Sanofi Pasteur), containing the same active ingredients as Pentaxim (DTaP-IPV//PRT-T) and 10 &mgr;g Hansenula polymorpha-derived recombinant hepatitis B (Hep B) surface antigen, Sanofi Pasteur, in Argentinean infants. Methods: Infants born to Hep B surface antigen seronegative mothers were randomized to receive the DTaP-IPV-Hep B-PRP-T vaccine or Pentaxim and Engerix B Pediatrico (Hep B monovalent) vaccines at 2, 4, 6 months of age. Antibody titers were measured before and 1 month after 3-month primary vaccination. Noninferiority analyses were performed on seroprotection/seroconversion rates. Safety was evaluated descriptively up to 1 month after primary vaccination. Results: A total of 624 participants were enrolled, 312 participants were randomized to each group, and 604 participants completed the trial. The DTaP-IPV-Hep B-PRP-T vaccine was demonstrated as noninferior to the Pentaxim and Hep B monovalent vaccines with seroprotection/seroconversion rates 1 month postdose 3 for each valence. The anti-Hep B geometric mean titer 1-month postdose 3 for the investigational DTaP-IPV-Hep B-PRP-T primary series was similar to the monovalent Hep B control. The overall incidence of adverse events was similar among the 2 groups. Conclusions: The new, fully liquid, investigational DTaP-IPV-Hep B-PRP-T vaccine (Hexaxim) is highly immunogenic and safe when compared with licensed comparators, warranting further development.
Global Point-to-hyperplane ICP: Local and global pose estimation by fusing color and depth

RGB-D view registration has been widely studied by the robotics and computer vision community. The well known Iterative Closest Points (ICP) method and its variants prevail for estimating the relative pose between sensors. However, the optimization is performed locally and by consequence it can get trapped in local minima. Global registration methods have been introduced as an approach to solve the local minima problem by exploiting the geometric structure of SE(3), and accelerated with local approaches. In this paper, a local hybrid approach named Point-to-hyperplane ICP has been combined with a global Branch and Bound strategy in order to estimate the 6DOF (degrees of freedom) pose parameters. Registration is performed by considering color and geometry at both, the matching and the error minimization stages. Results in real and synthetic environments demonstrate that the proposed method can improve global registration under challenging conditions such as partial overlapping and noisy datasets.
Intelligent Distributed Computing

Billions of computing elements continuously collect data and elaborate information nowadays. They range from personal computers to high-performance machines, from virtual machines to physical clusters and from smartphones to embedded systems. Most of them are connected, and this number increases continuously. Such an unlimited amount of spread resources offers challenging opportunities for building new kinds of computing overlay, for inferring collective knowledge and for developing emergent applications. In this context, the emergent field of Intelligent Distributed Computing focuses on the development of a new generation of intelligent distributed systems. It faces the challenges of adapting and combining research in the fields of Intelligent Computing and Distributed Computing. Intelligent Computing develops methods and technology ranging from classical artificial intelligence, computational intelligence and multi-agent systems to game theory. The field of Distributed Computing develops methods and technology to build systems that are composed of interacting and collaborating components. The International Symposium on Intelligent Distributed Computing (IDC) has a special interest in (but will not be limited to) novel architectures, systems and methods that facilitate distributed/ parallel/multi-agent biocomputing for solving complex computational and real-life problems. The eighth edition of this conference was held in 2014 in Madrid under the auspicious of Autonomous University of Madrid (www.uam.es). A careful selection from some of the best paper presented at IDC2014 welcomes focused on ‘Intelligent Distributed Computing’ that were selected and invited to be extended for its potential publication at Concurrency and Computation: Practice and Experience journal. The special issue received submissions of original papers on all aspects of IDC ranging from concepts and theoretical developments to advanced technologies and innovative applications; some of the most relevant areas cover by this special issue includes the following: Intelligent Distributed High-performance Architectures; Organization and Management of Intelligent Distributed Systems; Intelligent Distributed Knowledge Representation and Processing; Networked and Distributed Intelligence and Intelligent Distributed Applications and Case Studies. From the received papers, those with the highest quality were selected and finally accepted. In the next section, a short description of final accepted papers is briefly outlined.
Bronchial hyperresponsiveness, airway inflammation, and reversibility in patients with chronic obstructive pulmonary disease

Background: Bronchial hyperresponsiveness (BHR), sputum eosinophilia, and bronchial reversibility are often thought to be a hallmark of asthma, yet it has been shown to occur in COPD as well. Objectives: To evaluate the relationship between BHR, lung function, and airway inflammation in COPD patients. Methods: Thirty-one, steroid-free patients with stable, mild and moderate COPD were studied. The following tests were carried out: baseline lung function, reversibility, provocative dose of methacholine causing a 20% fall in forced expiratory volume in 1 second, a COPD symptom score, and sputum induction. Results: Twenty-nine patients completed the procedures. About 41.4% had BHR, 31.0% had increased sputum eosinophils, and 37.9% had bronchial reversibility. Some of the patients had only one of these characteristics while others had two or the three of them. Patients with BHR had higher sputum eosinophils than patients without BHR ( P = 0.046) and those with sputum eosinophils $ 3% had more exacerbations in the previous year and a higher COPD symptom score than patients with sputum eosinophils , 3% ( P = 0.019 and P = 0.031, respectively). In patients with BHR, the cumulative dose of methacholine was negatively related to the symptom score and the number of exacerbations in the previous year. When patients with bronchial reversibility were considered, bronchodilation was positively related to sputum eosinophils. Conclusion: Our study showed that BHR, sputum eosinophilia, and bronchial reversibility were not clustered in one single phenotype of COPD but could be present alone or together. Of interest, BHR and airway eosinophilia were associated with clinical data in terms of exacerbations and symptoms. Further investigation is needed to clarify this topic.
PRECISION INTRAUTERINE CONTRACEPTION MAY SIGNIFICANTLY INCREASE CONTINUATION OF USE ̶ A REVIEW OF LONG-TERM CLINICAL EXPERIENCE WITH FRAMELESS COPPER-RELEASING IUCDs

Objective: The purpose of this paper is to review the experience with the frameless, anchored, GyneFix, copper-releasing intrauterine contraceptive devices (IUCD/IUD), and to demonstrate their high acceptability and low rate of discontinuation of use which could contribute to current efforts that aim to radically reduce the high number of unintended pregnancies and induced abortions, particularly in young women. Materials and Methods: The paper is based on studies that examined the differences in uterine volume and cavity size, related to age and parity, and on original clinical research data and practical experience with frameless copper intrauterine devices, as well as on literature data on the IUD-endometrial cavity relationship of conventional IUDs, with special reference to side effects and user discontinuation. Results: The mean transverse diameter in nulliparous and parous women is significantly less than the length of the transverse arm of the TCu380A IUD (ParaGard) or the levonorgestrel intrauterine system (LNG-IUS) (Mirena). Small, frameless, flexible and unidimensional copper IUDs appear to be well tolerated, with less impact on menstrual bleeding, resulting in low discontinuation rates when compared with standard size conventional IUDs which often result in increased expulsion rates, complaints of pain and erratic or increased menstrual bleeding and subsequent high rates of discontinuation, particularly in young women.
Essential Hypertension and &bgr;2-Adrenergic Receptor Gene: Linkage and Association Analysis

A region on human chromosome 5 (5q31.1-qter) contains several genes that encode important blood pressure regulators and thus is a good candidate for analysis of linkage and association with hypertension. We recruited 638 individuals from 212 Polish pedigrees with clustering of essential hypertension. These subjects were genotyped for 11 microsatellite markers that span this region to test for linkage to essential hypertension and systolic and diastolic blood pressures. The segment of this region of ≈7 cM delineated by D5S1480 and D5S500 markers was linked to blood pressures in multipoint analysis. In 2-point analysis, D5S1480—the marker in close proximity to &bgr;2-adrenergic receptor gene—reached the maximal linkage to essential hypertension and adjusted systolic and diastolic blood pressures, implicating this gene as a positional candidate for further association studies. Arg16Gly, Gln27Glu, and Thr164Ile—3 functional single nucleotide polymorphisms within the &bgr;2-adrenergic receptor gene—were tested for association with essential hypertension. None of these polymorphisms showed a significant association with essential hypertension, separately or in the haplotype analysis. This study provided evidence of linkage of 5q31.1-5qter region to essential hypertension in the European population. Moreover, it implicated the chromosomal segment in close proximity to D5S1480 and D5S500. The detailed analysis of 3 single nucleotide polymorphisms does not support the role of the &bgr;2-adrenergic receptor gene as a major causative gene for the detected linkage.
Robust repetitive control of a dual stage actuator system

This paper extends the application of a robust repetitive controller to a dual stage actuator (DSA) system with nonlinearities. An existing robust repetitive control (RC) structure is applied to the DSA system to compensate for non-linear friction and other uncertainties within a known range. A comprehensive study of the new application of the robust RC and a comparison study will be presented in this paper. Simulation results also will be presented to support the analysis and verify the effectiveness of the applied control method.
Medication Adherence Among Pediatric Patients With Sickle Cell Disease: A Systematic Review

OBJECTIVES: Describe rates of adherence for sickle cell disease (SCD) medications, identify patient and medication characteristics associated with nonadherence, and determine the effect of nonadherence and moderate adherence (defined as taking 60%–80% of doses) on clinical outcomes. METHODS: In February 2012 we systematically searched 6 databases for peer-reviewed articles published after 1940. We identified articles evaluating medication adherence among patients <25 years old with SCD. Two authors reviewed each article to determine whether it should be included. Two authors extracted data, including medication studied, adherence measures used, rates of adherence, and barriers to adherence. RESULTS: Of 24 articles in the final review, 23 focused on 1 medication type: antibiotic prophylaxis (13 articles), iron chelation (5 articles), or hydroxyurea (5 articles). Adherence rates ranged from 16% to 89%; most reported moderate adherence. Medication factors contributed to adherence. For example, prophylactic antibiotic adherence was better with intramuscular than oral administration. Barriers included fear of side effects, incorrect dosing, and forgetting. Nonadherence was associated with more vaso-occlusive crises and hospitalizations. The limited data available on moderate adherence to iron chelation and hydroxyurea indicates some clinical benefit. CONCLUSIONS: Moderate adherence is typical among pediatric patients with SCD. Multicomponent interventions are needed to optimally deliver life-changing medications to these children and should include routine monitoring of adherence, support to prevent mistakes, and education to improve understanding of medication risks and benefits.
Inhibition of abscission layer formation by an interaction of two seed-shattering loci, sh4 and qSH3, in rice.

Loss of seed shattering was one of the key phenotypic changes selected for in the domestication of many crop species. Asian cultivated rice, Oryza sativa L. , was domesticated from its wild ancestor, O. rufipogon, and three seed-shattering loci, qSH1, sh4 and qSH3, have been reported to be involved in the loss of seed shattering in cultivated rice. Here, we analysed the seed-shattering behaviour of wild rice using introgression lines carrying the cultivated alleles from O. sativa Nipponbare in the genetic background of wild rice, O. rufipogon W630. We first carried out fine mapping of the qSH3 region and found that the qSH3 locus is localized in an 850-kb region on chromosome 3. We then analysed the effects of the Nipponbare alleles at sh4 and qSH3 on seed-shattering behaviour in wild rice, as a mutation at qSH1 was not commonly found in rice cultivars. Seed-shattering behaviour did not change in the two types of introgression line independently carrying the Nipponbare-homozygous alleles at sh4 or qSH3 in the genetic background of wild rice. However, the introgression lines having the Nipponbare-homozygous alleles at both sh4 and qSH3 showed a reduction in the degree of seed shattering. Histological and scanning electron microscopy analyses revealed that abscission layer formation was inhibited around the vascular bundles in these lines. Since the qSH3 region, as well as sh4, has been shown to be under artificial selection, the interaction of mutations at these two loci may have played a role in the initial loss of seed shattering during rice domestication.
Domain ontology based class diagram generation from functional requirements

Domain ontology formally represents knowledge as a set of concepts within a domain, and the relationships among those concepts. This paper proposes a method to generate class diagram from functional requirement specification which is written in natural language by using Domain ontology and Natural language processing techniques. Major steps in this method are identification of nouns and verbs from requirement specification statements and linking them with the ontology. From the ontology we get information about core concepts and relationships among those concepts. Thus domain ontology helps in the identification of classes, attributes and relationships for the particular domain for which the system is to be developed.