140 research outputs found

    Bilateral internal carotid artery dissection associated with prior syphilis: a case report and review of the literature

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    Bilateral internal carotid artery dissection is a rare entity, and its presentation may include cerebral ischemia. We describe the case of a 69-year-old man with ischemic stroke and radiological evidence of intimal flap of both internal carotid arteries suggestive for dissection. During the hospitalization, our patient was found positive for a previous syphilis infection. We conducted a review of the literature, with evidence of a few cases of ischemic stroke presumably related to a prior syphilis. The absence of major cardiovascular risk factors in our patient leads us to believe that an etiopathogenetic link may exist between these two conditions

    A worksite intervention to reduce the cardiovascular risk: proposal of a study design easy to integrate within Italian organization of occupational health surveillance

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    BACKGROUND: Despite the substantial amount of knowledge on effectiveness of worksite health promotion (WHP) in reducing cardiovascular disease (CVD) risk, WHP programs are not systematically applied in Italy. The aim was to design an intervention easy to integrate within the Italian organization of workplace health surveillance. METHODS: We used the “pretest-posttest design”. Workers were employed in multiple occupations and resident in Veneto region, Italy. Occupational physicians (OPs) performed all examinations, including laboratory evaluation (capillary blood sampling and measure of glycaemia and cholesterolemia with portable devices), during the normal health surveillance at worksite. CVD risk was computed based on sex, age, smoking habit, diabetes, systolic pressure and cholesterol level. After excluding those with <40 years of age, missing consent, CVD diagnosis or current therapy for CVD, missing information, CVD risk <5%, out of 5,536 workers 451 underwent the intervention and 323 male workers were re-examined at 1 year. CVD risk was the most compelling argument for changing lifestyle. The counseling was based on the individual risk factors. Individuals examined at posttest were a small fraction of the whole (6% = 323/5,536). In these workers we computed the ratio pretest/posttest of proportions (such as percent of subjects with cardiovascular risk >5%) as well as the exact McNemar significance probability or the exact test of table symmetry. RESULTS: CVD risk decreased by 24% (McNemar p = 0.0000) after the intervention; in a sensitivity analysis assuming that all subjects lost to follow-up kept their pretest cardiovascular risk value, the effect (−18%) was still significant (symmetry p < 0.0000). Each prevented CVD case was expected to cost about 5,700 euro. CONCLUSIONS: The present worksite intervention promoted favorable changes of CVD risk that were reasonably priced and consistent across multiple occupations

    Electrochromism in Electrolyte-Free and Solution Processed Bragg Stacks

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    Achieving an active manipulation of colours has huge implications in optoelectronics, as colours engineering can be exploited in a number of applications, ranging from display to lightning. In the last decade, the synergy of the highly pure colours of 1D photonic crystals, also known as Bragg stacks, with electro-tunable materials have been proposed as an interesting route to attain such a technologically relevant effect. However, recent works rely on the use of liquid electrolytes, which can pose issues in terms of chemical and environmental stability. Here, we report on the proof-of-concept of an electrolyte free and solution-processed electrochromic Bragg stack. We integrate an electro-responsive plasmonic metal oxide, namely indium tin oxide, in a 1D photonic crystal structure made of alternating layers of ITO and TiO2 nanoparticles. In such a device we observed 15 nm blue-shift upon application of an external bias (5 V), an effect that we attribute to the increase of ITO charge density arising from the capacitive charging at the metal oxide/dielectric interface and from the current flowing throughout the porous structure. Our data suggest that electrochromism can be attained in all-solid state systems by combining a judicious selection of the constituent materials with device architecture optimisation

    Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

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    Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive form of the disease, carrying a missense pathogenic variant in FUS gene. We reprogrammed somatic cells using an established Sendai virus protocol and we obtained clones of iPSC. We confirmed their stemness and further generated embryoid bodies, showing their potential of differentiating in all three germ layers. This iPSC line, carrying a pathogenic FUS variant, is a valuable tool to deeply investigate pathogenic mechanisms leading to ALS

    Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

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    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS/FTD patient. The patient had a familial form of the disease and a missense variant in TARDBP gene. We used an established protocol based on Sendai virus to reprogram fibroblasts. We confirmed the stemness and the pluripotency of the iPSC clones, thus generating embryoid bodies. We believe that the iPSC line carrying a TARDBP mutation could be a valuable tool to investigate TDP-43 proteinopathy linked to ALS

    Tamm Plasmon Resonance as Optical Fingerprint of Silver/Bacteria Interaction

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    Incorporation of responsive elements into photonic crystals is an effective strategy for building up active optical components to be used as sensors, actuators and modulators. In these regards, Tamm Plasmon (TP) modes have arisen recently as powerful optical tools for the manipulation of light-matter interaction and for building sensors/actuators. These emerge at the interface between a dielectric mirror and a plasmonic layer and, interestingly, can be excited at normal incidence angle with relatively high quality factors. Although its field is located at the interface between the dielectric mirror and the metal, recent studies have demonstrated that corrugation at the nanoscale permits to access the TP mode from the outside, opening new exciting perspectives for many real-life applications. Here, we show that the TP resonance obtained by capping a distributed Bragg reflector with a nanostructured layer of silver is sensitive to the presence of bacteria. We observed that nanoscale corrugation is essential for accessing the TP field, while the well-known bio-responsivity of silver nanostructures renders such a localised mode sensible to the presence of Escherichia Coli. Electrodoping experiments confirm the pivotal role of nanostructuration, as well as strengthening our hypothesis that the modifications of the TP mode upon exposure to bacteria are related to the accumulation of negative charge due to the bacterial-driven removal of Ag+ ions from its lattice. Finally, we devised a case study in which we disentangled optically the presence of proliferative and non-proliferative bacteria using the TP resonance as a read-out, thus making these devices as promising simple all-optical probes for bacterial metabolic activity, including their response against drugs and antibiotics

    Expert knowledge for translating land cover/use maps to General Habitat Categories (GHC)

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    Monitoring biodiversity at the level of habitats and landscape is becoming widespread in Europe and elsewhere as countries establish international and national habitat conservation policies and monitoring systems. Earth Observation (EO) data offers a potential solution to long-term biodiversity monitoring through direct mapping of habitats or by integrating Land Cover/Use (LC/LU) maps with contextual spatial information and in situ data. Therefore, it appears necessary to develop an automatic/semi-automatic translation framework of LC/LU classes to habitat classes, but also challenging due to discrepancies in domain definitions. In the context of the FP7 BIO_SOS (www.biosos.eu) project, the authors demonstrated the feasibility of the Food and Agricultural Organization Land Cover Classification System (LCCS) taxonomy to habitat class translation. They also developed a framework to automatically translate LCCS classes into the recently proposed General Habitat Categories classification system, able to provide an exhaustive typology of habitat types, ranging from natural ecosystems to urban areas around the globe. However discrepancies in terminology, plant height criteria and basic principles between the two mapping domains inducing a number of one-to-many and many-to-many relations were identified, revealing the need of additional ecological expert knowledge to resolve the ambiguities. This paper illustrates how class phenology, class topological arrangement in the landscape, class spectral signature from multi-temporal Very High spatial Resolution (VHR) satellite imagery and plant height measurements can be used to resolve such ambiguities. Concerning plant height, this paper also compares the mapping results obtained by using accurate values extracted from LIght Detection And Ranging (LIDAR) data and by exploiting EO data texture features (i.e. entropy) as a proxy of plant height information, when LIDAR data are not available. An application for two Natura 2000 coastal sites in Southern Italy is discussed

    Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype

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    Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 (6/12)-year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, moderate ID, coarse face, hypertrichosis and hypoplastic nails. However, recent studies have provided evidence that they give rise to a distinct neurodevelopmental disorder. To date, SOX11 variants are associated with a variable phenotype, which has been described to resemble CSS in some cases, but never PTHS. By reviewing both clinically and genetically 32 out of 82 subjects reported in the literature with SOX11 variants, for whom detailed information are provided, we found that 7/32 (22%) had a clinical presentation overlapping PTHS. Furthermore, we made a confirmation that overall SOX11 abnormalities feature a distinctive disorder characterised by severe ID, high incidence of microcephaly and low frequency of congenital malformations. Purpose of the present report is to enhance the role of clinical genetics in assessing the individual diagnosis after WES results

    New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis

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    Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly among patients. A number of genes have been identified and associated to familial and sporadic forms of ALS but the majority of cases remains still unexplained. Recent breakthrough discoveries have demonstrated that clinical manifestations associated with ALS-related genes are not circumscribed to motor neurons involvement. In this view ALS appears to be linked to different conditions over a continuum or spectrum in which overlapping phenotypes may be identified. In this review, we aim to examine the increasing number of spectra, including ALS/Frontotemporal Dementia and ALS/Myopathies spectra. Considering all these neurodegenerative disorders as different phenotypes of the same spectrum can help to identify common pathological pathways and consequently new therapeutic targets in these incurable diseases. This article is protected by copyright. All rights reserved
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