1,147 research outputs found

    The effect of coolant flow on surface roughness in metal cutting

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    The object of this thesis is to evaluate the effect of flood and spray mist application of a cutting fluid upon surface roughness in metal cutting

    Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)

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    Recent development of next-generation DNA sequencing (NGS) techniques is changing the approach to search for mutations in human genetic diseases. We applied NGS to study an A-T patient in which one of the two expected mutations was not found after DHPLC, cDNA sequencing and MLPA screening. The 160-kb ATM genomic region was divided into 31 partially overlapping fragments of 4–6 kb and amplified by long-range PCR in the patient and mother, who carried the same mutation by segregation. We identified six intronic variants that were shared by the two genomes and not reported in the dbSNP(132) database. Among these, c.1236-405C>T located in IVS11 was predicted to be pathogenic because it affected splicing. This mutation creates a cryptic novel donor (5′) splice site (score 1.00) 405 bp upstream of the exon 12 acceptor (3′) splice site. cDNA analysis showed the inclusion of a 212-bp non-coding ‘pseudoexon' with a premature stop codon. We validated the functional effect of the splicing mutation using a minigene assay. Using antisense morpholino oligonucleotides, designed to mask the cryptic donor splice-site created by the c.1236-405C>T mutation, we abrogated the aberrant splicing product to a wild-type ATM transcript, and in vitro reverted the functional ATM kinase impairment of the patients' lymphoblasts. Resequencing is an effective strategy for identifying rare splicing mutations in patients for whom other mutation analyses have failed (DHPLC, MLPA, or cDNA sequencing). This is especially important because many of these patients will carry rare splicing variants that are amenable to antisense-based correction

    The de Morton Mobility Index (DEMMI) provides a valid method for measuring and monitoring the mobility of patients making the transition from hospital to the community: an observational study

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    QuestionIsthe de Morton Mobility Index (DEMMI) valid for measuring the mobility of patients making the transition from hospital to the community?DesignObservational cohort study.Participants696 consecutive patients admitted to 11 Transition Care Programs for multidisciplinary care in Victoria and Tasmania during a 6-month period. The DEMMI and Modified Barthel Index were administered within 5 working days of admission and discharge from the Transition Care Program.Outcome measuresThe DEMMI and Modified Barthel Index.ResultsNeither the DEMMI nor the Modified Barthel Index had a floor or ceiling effect. Similar evidence of convergent, discriminant and known-groups validity were obtained for each instrument. The DEMMI was significantly more responsive to change than the Modified Barthel Index using criterion- and distribution-based methods. The minimum clinically important difference estimates represented similar proportions of the scale width for the DEMMI and Modified Barthel Index and were similar using criterion- and distribution-based estimates. Rasch analysis identified the DEMMI as essentially unidimensional in a Transition Care Program cohort and therefore can be applied to obtain interval level measurement. Rasch analysis demonstrated that the DEMMI was administered similarly by physiotherapists and allied health assistants under the direction of a physiotherapist.ConclusionThe DEMMI and Modified Barthel Index are both valid measures of activity limitation for Transition Care Program patients. The DEMMI has a broader scale width, provides interval level measurement, and is significantly more responsive to change than the Modified Barthel Index for measuring the mobility of Transition Care Program patient

    Evolution of innovation policy in Emilia-Romagna and Valencia: Similar reality, similar results?

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    This is an author's accepted manuscript of an article published in: “European Planning Studies"; Volume 22, Issue 11, 2014; copyright Taylor & Francis; available online at: http://dx.doi.org/10.1080/09654313.2013.831398[EN] This paper examines the evolution of regional innovation policy in Emilia-Romagna and Valencia, two regions with similar economic features that implemented close innovation policies in the 1970s and 1980s. We investigate whether their similarities have led to parallel targets, policy tools and governance developments. We show that innovation policy in both regions suffered from the effects of privatization, budget constraints and changes to manufacturing during the 1990s and we highlight the consequences. Although Emilia-Romagna experienced deeper changes to its innovation policy, privatizations and/or the replacement of public funds promoted commercial approaches and induced market failures in both regions. The worst effects of these policies were the implementation of less-risky innovation projects, the shift towards extraregional projects and markets, and the favouring of large firms.López Estornell, M.; Barberá Tomás, JD.; Garcia Reche, A.; Mas Verdú, F. (2013). Evolution of innovation policy in Emilia-Romagna and Valencia: Similar reality, similar results?. European Planning Studies. 22(11):2287-2304. doi:10.1080/09654313.2013.831398S22872304221

    Da depositi invisibili a risorse visibili. Il GIS per la gestione dei depositi di materiale archeologico

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    The paper presents a GIS platform for the management of archaeological warehouses located in the territory of the IV Municipality of Rome. The need to create a GIS was owed to the distribution of archaeological material in at least 15 different stores. The contents and provenance of the boxes and their archaeological material have been recorded. A GIS platform has been developed, based on QGIS Desktop (version 3.0) and a geodatabase built on PostgreSQL/ PostGIS. As a cartographic base, both the existing cartography in the WMS format and the free downloadable cartography in .shp format were used. Further, a single table was created, merging the existing tables of different formats from the various warehouses examined

    A renewable energy community of DC nanogrids for providing balancing services

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    The massive expansion of Distributed Energy Resources and schedulable loads have forced a variation of generation, transmission, and final usage of electricity towards the paradigm of Smart Communities microgrids and of Renewable Energy Communities. In the paper, the use of multiple DC microgrids for residential applications, i.e., the nanogrids, in order to compose and create a renewable energy community, is hypothesized. The DC Bus Signaling distributed control strategy for the power management of each individual nanogrid is applied to satisfy the power flow requests sent from an aggregator. It is important to underline that this is an adaptive control strategy, i.e., it is used when the nanogrid provides a service to the aggregator and when not. In addition, the value of the DC bus voltage of each nanogrid is communicated to the aggregator. In this way, the aggregator is aware of the regulation capacity that each nanogrid can provide and which flexible resources are used to provide this capacity. The effectiveness of the proposed control strategy is demonstrated via numerical experiments. The energy community considered in the paper consists of five nanogrids, interfaced to a common ML-LV substation. The nanogrids, equipped with a photovoltaic plant and a set of lithium-ion batteries, participate in the balancing service depending on its local generation and storage capacity. © 2021 by the authors. Licensee MDPI, Basel, Switzerland

    Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study

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    Recent studies suggested that epigenetic mechanisms, including DNA methylation, may be involved in migraine pathogenesis. The calcitonin gene-related peptide (CGRP), encoded by calcitonin gene-related peptide 1 (CALCA) gene, plays a key role in the disease. The aim of the study was to evaluate DNA methylation of CALCA gene in patients with episodic migraine. 22 patients with episodic migraine (F/M 15/7, mean age 39.7 ± 13.4 years) and 20 controls (F/M 12/8, mean age 40.5 ± 14.8 years) were recruited. Genomic DNA was extracted from peripheral blood. Cytosine-to-thymine conversion was obtained with sodium bisulfite. The methylation pattern of two CpG islands in the promoter region of CALCA gene was analyzed. No difference of methylation of the 30 CpG sites at the distal region of CALCA promoter was observed between migraineurs and controls. Interestingly, in patients with episodic migraine the methylation level was lower in 2 CpG sites at the proximal promoter region (CpG −1461, p = 0.037, and −1415, p = 0.035, respectively). Furthermore, DNA methylation level at different CpG sites correlates with several clinical characteristics of the disease, as age at onset, presence of nausea/vomiting, depression and anxiety (p < 0.05). In conclusion, we found that DNA methylation profile in two CpG sites at the proximal promoter region of CALCA is lower in migraineurs when compared to controls. Intriguingly, the −1415 hypomethylated unit is located at the CREB binding site, a nuclear transcription factor. In addition, we found a correlation between the level of CALCA methylation and several clinical features of migraine. Further studies with larger sample size are needed to confirm these results
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