Miracle-dz/UniFAR-FTUs huggingface dataset:
Next‐generation sequencing confirms the implication of SLC24A1 in autosomal‐recessive congenital stationary night blindness

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs‐electroretinogram (ERG) while patients with a signal transmission defect show a Schubert–Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs‐ERG and only one family with a disease‐causing variant in SLC24A1 have been reported. Whole‐exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SLC24A1. Indeed, re‐investigation of the clinical data corrected the diagnosis to Riggs‐form of CSNB. Targeted next‐generation sequencing (NGS) identified compound heterozygous deletions and a homozygous missense variant in SLC24A1 in two other patients, respectively. ERG abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert–Bornschein‐type of CSNB. This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. In case of unclear clinical characteristics, NGS techniques are helpful to clarify the diagnosis.
Route of exposure alters inflammation and lung function responses to diesel exhaust

Abstract Context: Mice are commonly used in studies investigating the effects of diesel exhaust exposure on respiratory health. A plethora of studies in this field has resulted in a range of exposure protocols, from inhalation of diesel exhaust, to the administration (via various routes) of diesel exhaust particles in solution. Objective: In this study, we compared the physiological consequences of short-term exposure to diesel exhaust via inhalation to those due to exposure to the same diesel exhaust particles suspended in solution and delivered intranasally. Materials and methods: Adult BALB/c mice were exposed to diesel exhaust via inhalation for 2 hours per day for 8 days. A representative, simultaneous sample of particles was collected and a second group of mice then exposed to them suspended in saline. A low and a high-dose were studied, with these matched based on respiratory parameters. Six and twenty-four hours after the last exposure we measured bronchoalveolar inflammation, lung volume, lung function and the amount of elemental carbon in alveolar macrophages. Results: Exposure via either route elicited pulmonary inflammation and changes in lung function. We identified significant differences in response between the two routes of exposure, with mice exposed via inhalation generally displaying more realistic dose-response relationships. Mice exposed via intranasal instillation responded more variably, with little influence of dose. Conclusions: Our results suggest that selection of the route of exposure is of critical importance in studies such as this. Further, inhalation exposure, while more methodologically difficult, resulted in responses more akin to those seen in humans.
Infrared camera evaluation of the cooling effect of triamcinolone acetonide aerosol.

OBJECTIVE Triamcinolone acetonide spray is a topical corticosteroid indicated for the relief of inflammatory/pruritic manifestations of corticosteroid-responsive dermatoses. There are clinical reports of an antipruritic, cooling sensation appreciated upon application. This study was designed to quantify the cryotherapeutic cooling effect of triamcinolone acetonide spray. DESIGN Using an infrared video camera, skin surface temperature was evaluated for change upon application of the triamcinolone acetonide and two comparator ingredient components of triamcinolone acetonide: ethanol alcohol in a non-aerosolized spray and triamcinolone acetonide cream. SETTING This was an open-label, single center, comparator study. PARTICIPANTS This study enrolled 20 subjects with a diagnosis of either an acute or chronic steroid-responsive dermatosis. Ten additional controls were also enrolled. MEASUREMENTS Using an infrared video camera, skin surface temperature was evaluated for change upon application of the triamcinolone acetonide and two comparator ingredient components of triamcinolone acetonide:ethanol alcohol in a non-aerosolized spray and triamcinolone acetonide cream. RESULTS Across every study cohort, the average change in skin surface temperature with triamcinolone acetonide (between 16-18°C; P<0.001 for all comparisons, Figures 1 and 2) was significantly greater than the change demonstrated by both the non-aerosolized spray (between 5-7°C) and the triamcinolone acetonide cream (between 5.0-6.5°C). CONCLUSION The transient temperature change of nearly 20°C with triamcinolone acetonide is most likely attributable to the refrigerant properties of the isobutane propellant of this product. Similar to other common cryotherapy methods, triamcinolone acetonide can achieve very low skin surface temperatures, which may result in localized relief of pruritus.
Research of Chinese manufacturing system on Game-Schily theory

The modern enterprise needs to be managed under the strategy and the culture, in generally, the strategy and the culture lie on the top level. It is a miracle on the growth of Chinese economic in the past 30 years. How to improve the enterprise viability is the key for all the manufacture organizations. The culture and the strategy of company are the supporting elements for the enterprise running well under the humanity and harmony. For enterprise management, the game theory is the method of facing the competition among the modern manufacturers and the consumers; the Chinese ancient theory Schily (the science of doing things) is the important management thinking on dealing with the relation between the objective and human from nature. In the paper, the new manufacturing management method is derived by combining the game theory and the Schley theory. Flowing the new theory, the paper gives the conception of Game-Schley for new manufacturing system on Chinese enterprises, deduced its meaning and the frame, and explained its origination, in the end, the driving force of the manufacturing system for China enterprise is drown out.
Quantifying FITC-Labeled Latex Beads Opsonized with Photoreceptor Outer Segment Fragments: An Easy and Inexpensive Method of Investigating Phagocytosis in Retinal Pigment Epithelium Cells

The retinal pigment epithelium (RPE) is the most active phagocyte in the human body, and this function is indispensable for vision. In this study, we introduce an easy and inexpensive way to quantify RPE phagocytosis by opsonizing FITC-labeled latex beads of a defined size with a crude mixture of photoreceptor outer segment fragments, using cells of porcine origin. After performance of the desired experiment, phagocytosis can easily be quantified by counting the ingested particles. With this protocol, we combine the advantage of a natural target with the advantages of the defined properties of latex beads. Moreover, in order to conduct these phagocytosis experiments, as laboratory equipment, in addition to cell culture equipment, only a centrifuge and a simple fluorescence microscope are needed.
Neuromorphic thermal-electric circuits based on phase-change VO 2 thin-film memristor elements

In this work, we invented the Φ memristor to exhibit the direct flux-charge interaction, in which a wire carrying a controlled amount of current is strung through a magnetic core, and, simultaneously, sensing the possibly induced voltage by the switched flux. This work confirms the existence of the ideal memristor postulated almost 50 years ago. In order to study this and its positive/ negative integer-/fraction-order counterparties, the flux-charge relationship (and its approximations), the complete differential conformal transformation, and the complete triangular periodic table of elementary circuit elements are developed. The ideal Φ memristor, fractional memristor, mem-inductor/mem-capacitor, and negative memristor are predicted within the context of this new 3-in-1 memristor physics, and their new synaptic functionalities for a brain-like computer are studied experimentally. Published under license by AIP Publishing. https://doi.org/10.1063/1.5042281 I. NEW MEMRISTOR PHYSICS In this article, new memristor physics refers to the 3-in-1 physics for an ideal Φ memristor based on the direct interaction between the physical magnetic flux and the physical electric charge. The three components of this physics are the flux-charge relationship (and its approximations), the complete differential conformal transformation, and the complete triangular periodic table of elementary circuit elements. It is new as we are probably the first to design an ideal memristor using an actual magnet from a first principle or ab initio. Our developed complete differential conformal transformation is new compared with the traditional (integer-order) differential conformal transformation. Our proposed complete triangular periodic table is new compared with Chua’s rectangular periodic table of circuit elements and Wang’s triangular periodic table of circuit elements.
FACE RECOGNITION USING LOCAL BINARY PATTERN AND LINEAR DISCRIMINANT ANALYSIS

School of Electronics Engineering, VIT University, India AbstractIn our paper we are using two techniques i.e. Local binary pattern, Linear discriminate analysis for face recognition. By combining these two process face recognition can be done easily even if there are variation of lights and facial expressions. KeywordsLBP (Local Binary Pattern), PCA (Principal Component Analysis), LDA (Linear Component Analysis), Euclidean Distance
Adherence to colorectal polyp surveillance guidelines: is there a ‘scope’ to increase the opportunities for screening?

Colorectal polyps are usually asymptomatic and are found opportunistically. Individuals with adenomata are at increased risk for cancer and therefore guidelines exist for surveillance of these lesions including those of the British Society of Gastroenterology (BSG). Deviation from these guidelines is common and increases the workload of endoscopy. We examined those individuals waiting for endoscopy for polyp surveillance to see whether strict adherence to BSG guidelines could facilitate opportunities for screening. A total of 413 patients with earlier colonic polyps were examined, of whom 50 patients were excluded based on having alternative indications for surveillance, 179 (49.3%) were appropriately scheduled for surveillance and 184 patients (55.9%) were scheduled incorrectly. Seventy-nine patients (30%) could have been discharged; of these, 59 had hyperplastic polyps. Of the remaining 105 inappropriate triages under surveillance at the wrong interval, seven patients were scheduled for too infrequent surveillance and 98 were too frequent. A total of 284 patients with adenomatous polyps were under surveillance of whom 11 patients (3.8%) were in the high-risk category and all were appropriately scheduled, and 75 patients (26.4%) were in the intermediate-risk category, of whom 48 were appropriately scheduled, 20 were incorrectly triaged as high risk and seven were triaged as low risk. A total of 198 (69.7%) patients were in the low-risk category, 117 of these were correctly triaged, 15 were incorrectly triaged as high risk and 66 were classified as intermediate risk. Over a five-year period, 318 unnecessary colonoscopies are being performed. On the basis of the data obtained from a population-based colorectal screening programme using immunohistochemical–faecal occult blood testing in our department another 1516 patients could be screened annually without requiring any additional endoscopy resources, if strict adherence to guidelines was assured.
Articulatory phonetics 5 Articulatory phonetics

The field of articulatory phonetics is concerned primarily with the question of how speech is realized through movements of body structures. While articulatory phoneticians have often described speech sounds using terms that refer to an inventory of body parts (e.g., “tongue,” “lips,” “velum,” etc.), a core challenge of articulatory phonetics is to understand how such structures function and interact to produce speech sounds. A complete understanding of articulatory phonetics thus requires that we define ways of mapping our descriptive terms onto groupings of nerves and muscles that our brains and bodies can use to produce speech movements. This chapter explores some of the ways articulatory phoneticians describe speech sounds, suggesting that a more fully embodied approach can provide novel insights into speech articulation and can help to understand links between speech and other functions of the human
Parietal activation during visual search in the absence of multiple distractors

Search for a target object embedded in a visual scene involves the posterior parietal cortex. This region is thought to play a role in visual attention by counteracting the effects of distractors on targets or by inhibiting distractors. Using fMRI, we investigated whether the parietal cortex is also engaged in visual search withour distractors. Cortical activation was compared between two ‘single object’ search tasks differing only in difficulty. Activation differences between both tasks were found in the anterior and inferior part of the intraparietal sulcus, but in neither its posterior part nor the frontal eye fields. Thus a subset of parietal regions participates in the control of visual search even in the absence of distractors.
Implementing an Integrated Health, Safety and Environmental Management System: The Case of a Construction Company

Over the past two decades, there has been an increasing trend of organizations implementing simultaneously two or more management systems. The structural similarities of these systems – despite the diversity of their fields of application, such as occupational health and safety for OHSAS 18001, and environmental management for ISO 14001 – have enabled many organizations to integrate different systems into a single one, rather than implementing them separately from one another. The purpose of this paper is to examine in depth a case of integration of the ISO 14001 and OHSAS 18001 systems, using a construction company as a research setting, in order to draw conclusions about the level of integration achieved, as well as the benefits, the problems, and the critical success factors of this endeavour. The findings of this study show that both the company's devotion to the fulfillment of the critical success factors and the identical structure of the two systems under consideration have facilitated the successful outcome of integration. However, this does not automatically imply that the company adopted the idea of full integration. Instead, the maximization of integration benefits and the elimination of related problems was achieved through the company’s conscious choice to proceed with partial integration, keeping separate manuals, policies, and risk management procedures for each system. This study will be useful in order to understand that partial integration is a perfectly acceptable and realistic solution that, under certain circumstances, may even have a better cost-benefit ratio than full integration.
Astrovirus Increases Epithelial Barrier Permeability Independently of Viral Replication

ABSTRACT Astrovirus infection in a variety of species results in an age-dependent diarrhea; however, the means by which astroviruses cause diarrhea remain unknown. Studies of astrovirus-infected humans and turkeys have demonstrated few histological changes and little inflammation during infection, suggesting that intestinal damage or an overzealous immune response is not the primary mediator of astrovirus diarrhea. An alternative contributor to diarrhea is increased intestinal barrier permeability. Here, we demonstrate that astrovirus increases barrier permeability in a Caco-2 cell culture model system following apical infection. Increased permeability correlated with disruption of the tight-junction protein occludin and decreased the number of actin stress fibers in the absence of cell death. Additionally, permeability was increased when monolayers were treated with UV-inactivated virus or purified recombinant human astrovirus serotype 1 capsid in the form of virus-like particles. Together, these results demonstrate that astrovirus-induced permeability occurs independently of viral replication and is modulated by the capsid protein, a property apparently unique to astroviruses. Based on these data, we propose that the capsid contributes to diarrhea in vivo.
Identification of calcium‐inducible genes in primary keratinocytes using suppression‐subtractive hybridization

Abstract: Terminal differentiation in epidermal keratinocytes involves major biochemical changes including the expression of many new differentiation‐specific genes. To further understand this process, we performed suppression‐subtractive hybridization of keratinocytes cultured under high‐calcium condition, known to induce differentiation in vitro. We randomly isolated 300 clones representing 90 different genes. By reverse Northern blot analyses, 20 different genes were found to be overexpressed, of which 13 were confirmed as differentially expressed genes during keratinocyte differentiation by Northern blot analysis. Of those, five genes, transglutaminase 1, keratin 6, interleukin‐1 receptor antagonist, kallikrein 7, and heat shock protein 27, are known to be up‐regulated during epidermal differentiation. Six genes, ferritin‐L chain, ribosomal protein S6, tumor‐associated calcium signal transducer 2, neuroendocrine secretory protein 55, phosphoserine aminotransferase, and neutrophil gelatinase‐associated lipocalin, heretofore were not known to be up‐regulated during keratinocyte differentiation. We also identified two novel genes. One of these maps to chromosome 1q21 of the epidermal differentiation complex, and its expression level was strongly increased in differentiating keratinocytes. These differentially expressed genes may provide significant opportunities for further understanding of the epidermal keratinocyte differentiation.
Elevated sister chromatid exchange frequencies in dividing human peripheral blood lymphocytes exposed to 50 Hz magnetic fields

The in vitro cytomolecular technique, sister chromatid exchange (SCE), was applied to test the clastogenic potentiality of extremely low frequency (ELF) electromagnetic fields (EMFs) on human peripheral blood lymphocytes (HPBLs). SCE frequencies were scored in dividing peripheral blood lymphocytes (PBLs) from six healthy male blood donors in two rounds of experiments, R1 and R2, to determine reproducibility. Lymphocyte cultures in the eight experiments conducted in each round were exposed to 50 Hz sinusoidal (continuous or pulsed) or square (continuous or pulsed) MFs at field strengths of 1 µT or 1 mT for 72 h. A significant increase in the number of SCEs/cell in the grouped experimental conditions compared to the controls was observed in both rounds. The highest SCE frequency in R1 was 10.03 for a square continuous field, and 10.39 for a square continuous field was the second highest frequency in R2. DNA crosslinking at the replication fork is proposed as a model which could explain the mechanistic link between ELF EMF exposure and increased SCE frequency. Bioelectromagnetics 28:281–288, 2007. © 2006 Wiley‐Liss, Inc.
Trends in Antifungal Use and Epidemiology of Nosocomial Yeast Infections in a University Hospital

ABSTRACT This report describes both the trends in antifungal use and the epidemiology of nosocomial yeast infections at the University of Iowa Hospitals and Clinics between fiscal year (FY) 1987–1988 and FY 1993–1994. Data were gathered retrospectively from patients’ medical records and from computerized databases maintained by the Pharmacy, the Program of Hospital Epidemiology, and the Medical Records Department. After fluconazole was introduced, use of ketoconazole decreased dramatically but adjusted use of amphotericin B decreased only moderately. However, the proportion of patients receiving antifungal therapy who were treated with amphotericin B declined markedly. In FY 1993–1994, 26 patients of the gastrointestinal surgery service received fluconazole. Among these patients, fluconazole use was prophylactic in 16 (61%), empiric in 3 (12%), and directed to a documented fungal infection in 7 (27%). Rates of nosocomial yeast infection in the adult bone marrow transplant unit increased from 6.77/1,000 patient days in FY 1987–1988 to 10.18 in FY 1989–1990 and then decreased to 0 in FY 1992–1993. Rates of yeast infections increased threefold in the medical and surgical intensive care units, reaching rates in FY 1993–1994 of 6.95 and 5.25/1,000 patient days, respectively. The rate of bloodstream infections increased from 0.044/1,000 patient days to 0.098, and the incidence of catheter-related urinary tract infections increased from 0.23/1,000 patient days to 0.68. Although the proportion of infections caused by yeast species other than Candida albicans did not increase consistently, C. glabrata became an important nosocomial pathogen.
Umbrella: a deployable SDN-enabled IXP Switching Fabric

Software Defined internet eXchange Points (SDXs) are a promising solution to the long-standing limitations and problems of interdomain routing. While proposed SDX architectures have improved the scalability of the control plane, these solutions have ignored the underlying fabric upon which they should be deployed. This work makes the case for a new fabric architecture that proposes stronger control and data plane separation.
Information Architecture as an Enabler for Business Development: A Case Study

Intelligence involves knowing information about some competitive factors like competitors’ profitability and turnover rate. Information technology can help organizations to seize the information available. In this chapter we will present the solution architected and developed for a Portuguese company with a starting scenario that showed characteristics like dispersed information, concentration of knowledge in a single individual, no defined architecture for data or information, simple changes involving huge efforts and lack of agility. We found that business decision makers had problems of relying on the results, as the system was like a black box and often provided not accurate data. We will describe how we solved the problem, designing and implementing a business intelligence solution and the impact of having an information architecture.
Lactobacillus paracasei CBA L74 interferes with gliadin peptides entrance in Caco-2 cells

Abstract Several recent reports describe a role of probiotics as a therapeutic approach for celiac disease (CD). Two undigested A-gliadin peptides, P31-43 and P57-68, are central to CD pathogenesis, inducing an innate and an adaptive immune response, respectively. They enter enterocytes and localize to vesicular compartment to induce their toxic/immunogenics effects. In this article, we tested the effect of probiotic Lactobacillus paracasei (LP) CBA L74 (International Depository Accession Number LMG P-24778), its supernatant and LP-fermented cereals on gliadin peptides, P31-43 and P57-68, entrance in Caco-2 cells. Both LP CBA L74 and its supernatant inhibit P31-43 (intensity of fluorescence; FI: 75%) and P57-68 (FI: 50%) entrance in Caco2 cells, indicating that this biological effect is due to some product included in LP CBA L74 supernatant. This effect was present also after fermentation of cereals. This study describes a novel effect of probiotics in the prevention of undigested gliadin peptides toxic effects.