Miracle-dz/UniFAR-FTUs huggingface dataset:
Multiple sclerosis associated with duplicated CMT1A: a report of two cases

The concomitant involvement of both the peripheral and central nervous system myelin is rare and may occur in the course of inherited lysosomal storage diseases. In inflammatory autoimmune diseases of the peripheral nervous system or CNS, a mild involvement of central or peripheral myelin has sometimes been reported.1 2 In such conditions, a single pathogenetic mechanism has been tentatively considered as responsible for the nervous tissue damage and the association of peripheral nervous system and CNS demyelinating disorders due to different pathogenetic mechanisms has never been reported. We describe two patients with definite multiple sclerosis and hereditary peripheral neuropathy of Charcot-Marie-Tooth type 1A (CMT1A). Patient 1, a 38 year old woman, was admitted to hospital because of episodes of gait disturbances and optic neuritis. Neurological examination showed ataxia, lower limb weakness, bilateral Babinski’s sign, increased tendon reflexes, mild sensory loss in all four limbs, impaired bladder function, …
A Modified Approach For Information Systems Success In The Context Of Internet Banking Using Structural Equation Modelling with R: An Empirical Study From India

Modern day bankers are in immense pressure to stay in the ever-changing online business. So as to stay in the competition, they have to enhance and foresee what their client needs. There is a dearth of studies in a developing country like India, for finding the success factors of Internet Banking IB from the perspective of the expectations of the IB customer. This study intends to fill that void with the proposed framework by modelling user expectations in terms of the quality dimensions of the Information Systems IS Success model, along with security dimension. Data collected from 312 IB experienced students of a premier educational Institution in India. Structural Equation Modeling has been employed to test the hypotheses of the proposed framework. The results showed that the quality dimensions alongside security, strongly influences the confirmation of user expectations from using the IB website. The study provided a starting point to model IB user expectations. Some managerial implications and future research directions are proposed, based on the results of the study.
Propofol: Relation between Brain Concentrations, Electroencephalogram, Middle Cerebral Artery Blood Flow Velocity, and Cerebral Oxygen Extraction during Induction of Anesthesia

Background The potential benefit of propofol dose regimens that use physiologic pharmacokinetic modeling to target the brain has been demonstrated in animals, but no data are available on the rate of propofol distribution to the brain in humans. This study measured the brain uptake of propofol in humans and the simultaneous effects on electroencephalography, cerebral blood flow velocity (Vmca), and cerebral oxygen extraction. Methods Seven subjects had arterial and jugular bulb catheters placed before induction. Electroencephalography and Vmca were recorded during induction with propofol while blood samples were taken from both catheters for later propofol analysis. Brain uptake of propofol was calculated using mass balance principles, with effect compartment modeling used to quantitate the rate of uptake. Results Bispectral index (electroencephalogram) values decreased to a minimum value of approximately 4 at around 7 min from the onset of propofol administration and then slowly recovered. This was accompanied by decreases in Vmca, reaching a minimum value of approximately 40% of baseline. Cerebral oxygen extraction did not change, suggesting parallel changes in cerebral metabolism. There was slow equilibrium of propofol between the blood and the brain (t1/2keo of 6.5 min), with a close relation between brain concentrations and bispectral index, although with considerable interpatient variability. The majority of the decreases in Vmca, and presumably cerebral metabolism, corresponded with bispectral index values reaching 40–50 and the onset of burst suppression. Conclusion Description of brain distribution of propofol will allow development of physiologic pharmacokinetic models for propofol and evaluation of dose regimens that target the brain.
Catheter-based radiotherapy to inhibit restenosis after coronary stenting.

BACKGROUND In animal models of coronary restenosis, intracoronary radiotherapy has been shown to reduce the intimal hyperplasia that is a part of restenosis. We studied the safety and efficacy of catheter-based intracoronary gamma radiation plus stenting to reduce coronary restenosis in patients with previous restenosis. METHODS Patients with restenosis underwent coronary stenting, as required, and balloon dilation and were then randomly assigned to receive catheter-based irradiation with iridium-192 or placebo. Clinical follow-up was performed, with quantitative coronary angiographic and intravascular ultrasonographic measurements at six months. RESULTS Fifty-five patients were enrolled; 26 were assigned to the iridium-192 group and 29 to the placebo group. Angiographic studies were performed in 53 patients (96 percent) at a mean (+/-SD) of 6.7+/-2.2 months. The mean minimal luminal diameter at follow-up was larger in the iridium-192 group than in the placebo group (2.43+/-0.78 mm vs. 1.85+/-0.89 mm, P=0.02). Late luminal loss was significantly lower in the iridium-192 group than in the placebo group (0.38+/-1.06 mm vs. 1.03+/-0.97 mm, P=0.03). Angiographically identified restenosis (stenosis of 50 percent or more of the luminal diameter at follow-up) occurred in 17 percent of the patients in the iridium-192 group, as compared with 54 percent of those in the placebo group (P= 0.01). There were no apparent complications of the treatment. CONCLUSIONS In this preliminary, short-term study of patients with previous coronary restenosis, coronary stenting followed by catheter-based intracoronary radiotherapy substantially reduced the rate of subsequent restenosis.
Identification of a Novel Rhabdovirus in Spodoptera frugiperda Cell Lines

ABSTRACT The Sf9 cell line, derived from Spodoptera frugiperda, is used as a cell substrate for biological products, and no viruses have been reported in this cell line after extensive testing. We used degenerate PCR assays and massively parallel sequencing (MPS) to identify a novel RNA virus belonging to the order Mononegavirales in Sf9 cells. Sequence analysis of the assembled virus genome showed the presence of five open reading frames (ORFs) corresponding to the genes for the N, P, M, G, and L proteins in other rhabdoviruses and an unknown ORF of 111 amino acids located between the G- and L-protein genes. BLAST searches indicated that the S. frugiperda rhabdovirus (Sf-rhabdovirus) was related in a limited region of the L-protein gene to Taastrup virus, a newly discovered member of the Mononegavirales from a leafhopper (Hemiptera), and also to plant rhabdoviruses, particularly in the genus Cytorhabdovirus. Phylogenetic analysis of sequences in the L-protein gene indicated that Sf-rhabdovirus is a novel virus that branched with Taastrup virus. Rhabdovirus morphology was confirmed by transmission electron microscopy of filtered supernatant samples from Sf9 cells. Infectivity studies indicated potential transient infection by Sf-rhabdovirus in other insect cell lines, but there was no evidence of entry or virus replication in human cell lines. Sf-rhabdovirus sequences were also found in the Sf21 parental cell line of Sf9 cells but not in other insect cell lines, such as BT1-TN-5B1-4 (Tn5; High Five) cells and Schneider's Drosophila line 2 [D.Mel. (2); SL2] cells, indicating a species-specific infection. The results indicate that conventional methods may be complemented by state-of-the-art technologies with extensive bioinformatics analysis for identification of novel viruses. IMPORTANCE The Spodoptera frugiperda Sf9 cell line is used as a cell substrate for the development and manufacture of biological products. Extensive testing has not previously identified any viruses in this cell line. This paper reports on the identification and characterization of a novel rhabdovirus in Sf9 cells. This was accomplished through the use of next-generation sequencing platforms, de novo assembly tools, and extensive bioinformatics analysis. Rhabdovirus identification was further confirmed by transmission electron microscopy. Infectivity studies showed the lack of replication of Sf-rhabdovirus in human cell lines. The overall study highlights the use of a combinatorial testing approach including conventional methods and new technologies for evaluation of cell lines for unexpected viruses and use of comprehensive bioinformatics strategies for obtaining confident next-generation sequencing results.
The Light Control Case Study: Problem Description

This document contains a range of needs and requirements concerning the construction of a light control system for a floor of a university building. A description of the building architec- ture and of some pre-installed (light-)hardware is included. This problem description was the com- mon input for all participants of the requirements engineering case study "Light Control".
Time- and dose-related effects of estradiol and diethylstilbestrol on the morphology and function of the fetal rat testis in culture.

UNLABELLED The mechanisms underlying the action of estrogens in the fetal testis are still largely obscure. In particular, whether this action is direct or indirect remains largely unexplored. This study was aimed at investigating the effect of estradiol (E2) and diethylstilbestrol (DES) on the testis from 14.5-day-old rat fetuses in culture, at concentrations ranging from 4 x 10(-10) M (Kd of E2 for the estrogen receptors [ER]: 1-4 x 10(-10) M) to 4 x 10(-6) M (concentration previously shown in the literature to affect in vitro gonocyte proliferation). Exposure to DES and E2 decreased gonocyte number, the effects of DES being much more drastic than those of E2. Gonocyte number decreased in a concentration-dependent manner (day 3: -5%, -16%, and -80% at 4 x 10(-10) M, 4 x 10(-8) M, and 4 x 10(-6)M of DES, respectively), as well as in a time-dependent manner (at 4 x 10(-6) M DES: -31% on day 1, -60% on day 2, and -80% on day 3). This was due to a decrease in the gonocyte mitotic index and a dramatic increase in apoptosis. Importantly, in the presence of the anti-estrogen ICI 182.780 (ICI), the effect of DES was abolished. Sertoli cell number subsequently decreased (day 3), although the rate of apoptosis did not increase. These changes were less dramatic than those observed with gonocytes and were due to a decrease in Sertoli cell proliferation, which was not antagonized by ICI. Addition of 4 x 10(-6) M DES had no effect on basal Sertoli cell cyclic adenosine 5'-monophosphate (cAMP) levels or on follicle-stimulating hormone (FSH)-stimulated cAMP production after adjustment for Sertoli cell number. Finally, estrogens reduced both Leydig cell number (-26% on day 3, 4 x 10(-6) M DES) and basal and luteinizing hormone (LH)-stimulated testosterone production. The latter effects were antagonized by ICI. IN CONCLUSION 1) E2 and DES induce alterations in the germ line and in somatic cells; 2) gonocyte alteration was the first event detected, and the action of estrogens at this level was mediated by ER, as is the case in Leydig cells; and 3) these data should help us to understand estrogen effects on the fetus and should be considered in the context of the debate on environmental estrogens.
Statistics: What Seems Natural?

Which statistical data seem easier to understand, 10 cases in 100, or 10%? In their Policy Forum “Communicating statistical information” ( Science 's Compass, 22 Dec., p. [2261][1]), U. Hoffrage and colleagues offer persuasive evidence that both experts and novices find it to be the former. When
Isotope partitioning in the adenosine 3',5'-monophosphate dependent protein kinase reaction indicates a steady-state random kinetic mechanism.

Isotope partitioning beginning with the binary E.MgATP and E.N-acetyl-Leu-Arg-Arg-Ala-Ser-Leu-Gly (Ser-peptide) complexes indicates that the kinetic mechanism for the adenosine 3',5'-monophosphate dependent protein kinase is steady-state random. A total of 100% of the initial radioactive E.MgATP complex is trapped as phospho-Ser-peptide at infinite Ser-peptide concentration at both low and high concentration of uncomplexed Mg2+, suggesting that the off-rate of MgATP from the E.MgATP. Ser-peptide complex is slow relative to the catalytic steps. Km for Ser-peptide in the trapping reaction decreases from 17 microM at low Mg2+ to 2 microM at high Mg2+, indicating that Mg2+ decreases the off-rate for MgATP from the E.MgATP complex. A total of 100% of the radioactive E.Ser-peptide complex is trapped as phospho-Ser-peptide at low Mg2+, but only 40% is trapped at high Mg2+ in the presence of an infinite concentration of MgATP, suggesting that the off-rate for Ser-peptide from the central complex is much less than catalysis at low but not at high Mg2+. In support of this finding, the Ki for Leu-Arg-Arg-Ala-Ala-Leu-Gly (Ala-peptide) increases from 0.27 mM at low Mg2+ to 2.4 mM at high Mg2+. No trapping was observed at either high or low Mg2+ for the E.MgADP complex up to a phospho-Ser-peptide concentration of 5 mM. Thus, it is likely that in the slow-reaction direction the kinetic mechanism is rapid equilibrium. (ABSTRACT TRUNCATED AT 250 WORDS)
Gut Colonization of Mice withactA-Negative Mutant of Listeria monocytogenesCan Stimulate a Humoral Mucosal Immune Response

ABSTRACT We used Listeria monocytogenes, a gram-positive, facultative intracellular bacterium, to study the gut mucosal immune responses following oral infection. We employed a germfree (GF) mouse model to try to accentuate the development of a humoral mucosal immune response in the gut, and we used oral colonization with one of the mutants, actA-negative (ΔactA) L. monocytogenes, to restrict infection largely to the gut. The ΔactA mutant was able to colonize the intestinal mucosa of formerly GF mice for long periods of time without causing disease while eliciting secretory immunoglobulin A (IgA) responses, as evidenced by gut tissue fragment culture assays. Flow cytometric analyses and immunohistochemical methods showed the development of only minimal germinal center reactions (GCR) in Peyer's patches and more robust GCR in mesenteric lymph nodes. Pronounced increases in total (natural) IgA production occurred in gut tissues by day 7 and were maintained for up to 90 days. Levels of specific IgA were modest in gut tissues on day 14, increased until day 76, and stabilized at day 90. We also observed a significant rise in serum IgA and IgG1 levels following oral infection by listeriae. Upon colonization, the organisms mainly infected the intestines and intestinal lumen, and we only sporadically observed few colony-forming bacteria in the liver and spleen. We observed a marked rise in IgA-secreting cells, including listeria-specific IgA antibody-secreting cells, in the lamina propria of the small intestine by enzyme-linked immunospot assays. To ascertain whether some of the IgA was specific for listeriae, we performed Western blot analysis to test the reactivity of IgA from fragment cultures to antigens in sonicates of L. monocytogenes. We detected IgA binding to antigenic proteins with molecular masses of 96, 60, 40, and 14 kDa in theListeria sonicates.
Autosomal recessive congenital ichthyoses in the Czech Republic

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of disorders of epidermal cornification. Nine genes have been identified to be causative of ARCI, including TGM1 1,2 , ABCA12 3 , NIPAL4 4 , CYP4F22 5 , ALOX12B, ALOXE3 6 , PNPLA1 7 , LIPN 8 , and CERS3 9 . ARCI is rare, with a reported prevalence 1 in 200,000 in European and northern American populations 10 . We started DNA analysis of ARCI in 2012 when PCR-direct sequencing of the TGM1, ALOX12B, ALOXE3, NIPAL4, and CYP4F22 genes was introduced and patients were analysed step by step for mutations in these genes.
Analysis of TID failure modes in SRAM-based FPGA based on gamma-ray and synchrotron X-ray irradiation

Total ionizing dose effect in SRAM-based FPGA is studied by means of common gamma-ray irradiation and synchrotron X-ray irradiation. In the whole-chip irradiation experiment, TID analysis of SRAM-based FPGA is implemented using on-line test system and IC parameter analyzer. The corresponding TID failure modes can be summarized as inability to be reconfigured and to be powered up. In the synchrotron X-ray irradiation experiment, functional error resulting from failure of POR component is observed, which prove that the specified zone in POR circuit is very sensitive to TID, and the failure of POR (Power-on Reset) circuit could be related to the failure mode inability to be powered up. Circuit simulation is executed to better understand the failure phenomenon.
Impact of temporal resolution of precipitation forcing data on modelled urban‐atmosphere exchanges and surface conditions

Representative precipitation data sets are very difficult to obtain due to the inherent spatial and temporal variability of rainfall. Gridded rainfall products exist at various scales, but temporal resolution is coarse (daily or, at best, a few hours). This study demonstrates the impact of low temporal resolution precipitation forcing data (PFD) on modelled energy fluxes, runoff and surface conditions, which could have implications for a range of applications including flood forecasting, irrigation scheduling and epidemiology. An evaporation‐interception model originally developed for forests is applied here within the framework of the Surface Urban Energy and Water balance Scheme (SUEWS). The model is forced with rainfall data representative of a range of temporal resolutions (from 5 min to 3 h). Taking the highest resolution case as a reference, differences in model output are found as the temporal resolution of PFD decreases, depending on the timing of rainfall occurrence, intensity and duration. Modelled evaporation, runoff and surface wetness deviate from the reference case, which affect other variables such as the turbulent sensible heat flux. The largest impacts are seen on days with greatest daily total rainfall and, even on days with no rain, differences in antecedent conditions (soil moisture or surface wetness) can cause deviations from the reference case. Errors can be reduced by applying a disaggregation scheme that provides a more realistic distribution of rainfall, importantly, one that allows for intermittent rainfall.
LOGAN: A framework for LOssless Graph-based ANalysis of high throughput sequence data

Recent massive growth in the production of sequencing data necessitates matching improve-ments in bioinformatics tools to effectively utilize it. Existing tools suffer from limitations in both scalability and applicability which are inherent to their underlying algorithms and data structures. We identify the key requirements for the ideal data structure for sequence analy-ses: it should be informationally lossless, locally updatable, and memory efficient; requirements which are not met by data structures underlying the major assembly strategies Overlap Layout Consensus and De Bruijn Graphs. We therefore propose a new data structure, the LOGAN graph, which is based on a memory efficient Sparse De Bruijn Graph with routing information. Innovations in storing routing information and careful implementation allow sequence datasets for Escherichia coli (4.6Mbp, 117x coverage), Arabidopsis thaliana (135Mbp, 17.5x coverage) and Solanum pennellii (1.2Gbp, 47x coverage) to be loaded into memory on a desktop computer in seconds, minutes, and hours respectively. Memory consumption is competitive with state of the art alternatives, while losslessly representing the reads in an indexed and updatable form. Both Second and Third Generation Sequencing reads are supported. Thus, the LOGAN graph is positioned to be the backbone for major breakthroughs in sequence analysis such as integrated hybrid assembly, assembly of exceptionally large and repetitive genomes, as well as assembly and representation of pan-genomes.
Intelligent Probing for Locality Sensitive Hashing: Multi-Probe LSH and Beyond

The past decade has been marked by the (continued) explosion of diverse data content and the fast development of intelligent data analytics techniques. One problem we identified in the mid-2000s was similarity search of feature-rich data. The challenge here was achieving both high accuracy and high efficiency in high-dimensional spaces. Locality sensitive hashing (LSH), which uses certain random space partitions and hash table lookups to find approximate nearest neighbors, was a promising approach with theoretical guarantees. But LSH alone was insufficient since a large number of hash tables were required to achieve good search quality. Building on an idea of Panigrahy, our multi-probe LSH method introduced the idea of intelligent probing. Given a query object, we strategically probe its neighboring hash buckets (in a query-dependent fashion) by calculating the statistical probabilities of similar objects falling into each bucket. Such intelligent probing can significantly reduce the number of hash tables while achieving high quality. In this paper, we revisit the problem motivation, the challenges, the key design considerations of multi-probe LSH, as well as discuss recent developments in this space and some questions for further research.
Fluorescein studies of patients with macular edema and papilledema following cataract extraction.

and optic neuritis.6'8 The results of this study provide evidence that the pathogenesis of the visual disturbance involves leakage of serous exudate from the capillary network within the macular portion of the retina and/or the optic nerve head. This extravasation into the macular region, which may be associated with small intraretinal hemorrhages, produces a cystoid 'swelling of the retina which may be completely reversible or which, if it persists, may lead to permanent cystic changes and loss of macular function. The extravasation of exudate into the optic nerve head results in the clinical picture of papilledema. This may also be only a transient phenomenon, but in some cases optic atrophy and reduction in visual acuity may ensue. We have been unable to demonstrate any fluorescein angiographic evidence of alterations in the permeability of the choriocapillaris in this syndrome.