1,216 research outputs found
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions
No full textBackground: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have
been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON),
mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe
the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in association with LHON, leads
also to a Leigh-like phenotype.
Case presentation: A 16-year-old male suffered subacute visual loss and recurrent vomiting and vertigo associated
with bilateral brainstem lesions affecting the vestibular nuclei. His mother and one sister also presented subacute
visual loss compatible with LHON. Sequencing of the entire mtDNA revealed the homoplasmic m.4171C>A/MT-ND1
mutation, previously associated with pure LHON, on a haplogroup H background. Three additional non-synonymous
homoplasmic transitions affecting ND2 (m.4705T>C/MT-ND2 and m.5263C>T/MT-ND2) and ND6 (m.14180T>C/MT-ND6)
subunits, well recognized as polymorphisms in other mtDNA haplogroups but never found on the haplogroup H
background, were also present.
Conclusion: This case widens the phenotypic expression of the rare m.4171C>A/MT-ND1 LHON mutation, which
may also lead to Leigh-like brainstem lesions, and indicates that the co-occurrence of other ND non-synonymous
variants, found outside of their usual mtDNA backgrounds, may have increased the pathogenic potential of the
primary LHON mutation
Development of innovative amperometric biosensor useful as analytical tools for food quality control
No full text"Teen" Sense of Place. The Representation of Italian Locations in Teen Television Series
No full textScripted TV products for teens and young people have always been present in Italian television history, although they rarely reached a strong impact in audience choices and editorial logic of broadcasters. However, due to the import of US teen dramas and comedies since the Nineties and then due to the explosion of streaming platforms with their fragmentation of the consumption and the need to reach niche audiences, this genre has found new vitality among producers and players. During the last years, many titles imposed themselves as examples of an Italian way to teen drama, addressing different classic themes of adolescence universe, such as love, sex, school problems, friendship, drugs, bullying and social media dependency.
Following and replicating models of representation of other genres and mainstream TV series, Italian teen dramas are also characterized by the use of places and locations as key features interacting with the plot and bringing out different narration styles and rhetoric of urban and rural territories.
The chapter proposes different models of representation of the territory in Italian teen dramas, identified through the role and rhetoric of the locations through the narratives
Jejunal hemorrhage sindrome in dairy cattle associated with Clostridia infection”
No full textJEJUNAL HEMORRHAGE SYNDROME IN DAIRY CATTLE ASSOCIATED WITH CLOSTRIDIA INFECTION. Ceci L., Paradies P., Greco G., Buonavoglia D., Capucchio M.T.*, Guarda F.*, Carelli G.
Department of Animal Health Welfare, Faculty of Veterinary Medicine, University of Bari. Department Animal Pathology*, University of Torino, Italy
A survey based on clinical, anatomohystophatological observations and microbiological investigations was performed on 11 italian brown breed dairy cattle affected with depression, anorexia, agalaxia, ruminal hypomotility, abdominal pain and melaena. Macroscopic lesions of 8 animals consisted of hemorrhagic enteritis in the small intestine. Clostridium perfringens type A was isolated from the tissues of 7 animals and the beta2-toxin gene was detected in 4 out of 7 type A isolates. Based on these observations 8 animals were considered affected with Jejunal Hemorrhage Syndrome
Assignment And Frequency Measurement Of Rotational Transitions Of 13cd3oh By Intracavity Laser Stark Spectroscopy
No full textWe present the results of an intracavity Stark spectroscopy experiment on the fundamental state of 13CD3OH. We use an optically pumped hybrid waveguide FIR laser, CH2F2 as active molecule, and 13CD3OH as absorbent molecule. No Brewster window is needed to separate the lasing gas from the absorbing deuterated methanol. An absorption line is assigned as E1 symmetry (n, K, J): (1,4,18) → (1,5,18) and its frequency is measured as 63.08631 cm-1 with a precision of a few parts in 107; two more absorptions are reported and a tentative assignment is given for one of them.374547551Moruzzi, G., Moraes, J.C.S., Strumia, F., (1992) Int. J. Infrared Millim. Waves, 13, pp. 1269-1312Pereira, D., Moraes, J.C.S., Telles, E.M., Scalabrin, A., Strumia, F., Moretti, A., Carelli, G., Massa, C.A., (1994) Int. J. Infrared Millim. Waves, 15, pp. 1-44Carli, B., Carlotti, M., Mencaraglia, F., Rossi, E., (1987) Appl. Opt., 26, pp. 3818-3822Inguscio, M., Ioli, N., Moretti, A., Strumia, F., D'Amato, F., (1984) Int. J. Infrared Millim. Waves, 5, pp. 1695-11639Moraes, J.C.S., Telles, E.M., Cruz, F.C., Scalabrin, A., Pereira, D., Carelli, G., Ioli, N., Strumia, F., (1992) Int. J. Infrared Millim. Waves, 13, pp. 1801-1823Inguscio, M., Moretti, A., Moruzzi, G., Strumia, F., (1981) Int. J. Infrared Millim. Waves, 2, pp. 943-986Inguscio, M., Moruzzi, G., Evenson, K.M., Jennings, D.A., (1986) J. Appl. Phys., 60, pp. R161-R192Xu, L.H., Lees, R.M., Mukhopadhyay, I., Johns, J.W.C., Moruzzi, G., (1993) J. Mol. Spectrosc., 157, pp. 447-466Moraes, J.C.S., Scalabrin, A., Pereira, D., Di Lonardo, G., Fusina, L., (1991) Infrared Phys., 31, pp. 365-372Moraes, J.C.S., Telles, E.M., Cruz, F.C., Scalabrin, A., Pereira, D., Carelli, G., Ioli, N., Strumia, F., (1991) Int. J. Infrared Millim. Waves, 12, pp. 1475-1486Telles, E.M., Moraes, J.C.S., Scalabrin, A., Pereira, D., Carelli, G., Massa, C.A., Moretti, A., Strumia, F., (1994) XIX Int. Conf. IRMMW (Sendai, Japan), pp. 524-525. , K. Sakai and T. Yoneyama edsInguscio, M., Minguzzi, P., Moretti, A., Strumia, F., Tonelli, M., (1979) Appl. Phys., 18, pp. 261-270Redon, M., Gastaud, C., Fourrier, M., (1979) IEEE J. Quantum Electron., QE-15, pp. 412-414Ioli, N., Moretti, A., Roselli, P., Strumia, F., (1986) J. Opt. Soc. Am. B, 3, pp. 867-869Inguscio, M., Ioli, N., Moretti, A., Strumia, F., D'Amato, F., (1986) Appl. Phys. B, 40, pp. 165-169Xu, L.H., (1992), PhD Thesis, University of New Brunswick, CAXu, L.H., private communicatio
Multiple-source holography for artwork erosion measurements
No full textA prototype inspection system using a holographic contouring method with computer image processing has been developed for measuring the surface materials lost from art objects by weathering and acid rain. Holographic patterns relating to marble and limestone models exposed to dilute sulfuric acid and methods that can be used to retrieve metrological information are discussed.Les AA. ont imaginé un protocole expérimental utilisant une méthode holographique de repérage des contours avec traitement informatique de l'image, pour mesurer la perte des produits de surface par altération climatique ou effet de pluie acide dans les objets d'art faits de différents matériaux. On commente les images holographiques de modèles en marbre et en calcaire, exposés à une solution d'acide sulfurique diluée pour lesquels les informations météorologiques peuvent être facilement disponible
An automatic holographic monitoring system for metal surfaces corrosion
No full textA contouring technique based on multiple-source sandwich holography is describedfor evaluation of the corrosion rate of a metal or alloy. An image processing system for automatic fringe analysis is used as a real-time inspection technique. Some experimental results obtained on models are reported
Análise do comportamento de ondas ultrassônicas em elementos fissurados de concreto e argamassa
No full textDissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia Civil, Florianópolis, 2014.Nesta pesquisa realizou-se um estudo para a ampliação do uso da técnica de ultrassom, através da definição e aplicação de parâmetros obtidos pelo formato da onda que se propaga pelo material. Pesquisadores internacionais afirmam que parâmetros do formato da onda propagada são potencialmente mais sensíveis do que a análise convencional do ultrassom (via velocidade de pulso) para diversos tipos de danos avaliados. Através dos experimentos destes autores, foi possível definir parâmetros de análise obtidos pelo formato da onda de ultrassom: velocidade de grupo, amplitude máxima, energia (inicial, total e acumulada), magnitude e pico de frequência máxima, e frequência central. O programa experimental foi determinado para avaliar a eficiência destes parâmetros na investigação do estado de fissuração em estruturas de concreto e argamassa. Para isso, fez-se uma análise comparativa entre os resultados dos diversos parâmetros em placas de concreto e de argamassa, fissuradas e não fissuradas por retração plástica, e uma análise da evolução da fissuração ao longo de ensaio de flexão em vigas de concreto armado. Com base nos resultados obtidos, percebeu-se que nem todos os parâmetros mostraram-se adequados para as análises propostas. No entanto, alguns deles revelaram-se promissores na avalição de fissuras, independentemente de suas características. Dentre os parâmetros que manifestaram sensibilidade, em geral, os resultados obtidos foram mais eficientes do que os de velocidade de pulso, confirmando a hipótese de que o formato da onda ultrassônica pode trazer respostas importantes quanto ao comportamento fissurado dos materiais.Abstract : This research, presents the possibility to enhance expanding ultrasound applications in concrete structures by applying using some waveform parameters other than the conventional ultrasound analysis (pulse velocity). According to international researchers, these waveform parameters are potentially more sensitive when damaged concrete is to be evaluated. Some of waveform parameters used by these researchers were: group velocity, maximum amplitude, (initial, total and cumulative) energy, magnitude and maximum frequency, and central frequency. The experimental program presented in this research was defined to evaluate the efficiency of these waveform parameters to evaluate the extent of cracking in concrete and mortar specimens. A comparative analysis was performed between several waveform parameters both in concrete and mortar slabs, subjected to plastic shrinkage cracking; and also in the development of flexural cracks in reinforced concrete beams. Based on the obtained results, it was noticed that not all the parameters were appropriate for the proposed analysis. However, some of them have revealed to be capable in the evaluation of cracking, regardless their characteristics. Among the parameters that presented overall sensibility, the results were more efficient than the pulse velocity, confirming the hypothesis that the ultrasonic waveform can bring important responses to the cracked behavior of the materials
The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity
No full textLeber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors. Indeed, the mtDNA background defined as haplogroup J is known to increase the penetrance of the 11778/ND4 and 14484/ND6 mutations. Recently it was also documented that the professional exposure to n-hexane might act as an exogenous trigger for LHON. Therefore, we here investigate the effect of the n-hexane neurotoxic metabolite 2,5-hexanedione (2,5-HD) on cell viability and mitochondrial function of different cell models (cybrids and fibroblasts) carrying the LHON mutations on different mtDNA haplogroups. The viability of control and LHON cybrids and fibroblasts, whose mtDNAs were completely sequenced, was assessed using the MTT assay. Mitochondrial ATP synthesis rate driven by complex I substrates was determined with the luciferine/luciferase method. Incubation with 2,5-HD caused the maximal loss of viability in control and LHON cells. The toxic effect of this compound was similar in control cells irrespective of the mtDNA background. On the contrary, sensitivity to 2,5-HD induced cell death was greatly increased in LHON cells carrying the 11778/ND4 or the 14484/ND6 mutation on haplogroup J, whereas the 11778/ND4 mutation in association with haplogroups U and H significantly improved cell survival. The 11778/ND4 mutation on haplogroup U was also more resistant to inhibition of complex I dependent ATP synthesis by 2,5-HD. In conclusion, this study shows that mtDNA haplogroups modulate the response of LHON cells to 2,5-HD. In particular, haplogroup J makes cells more sensitive to its toxic effect. This is the first evidence that an mtDNA background plays a role by interacting with an environmental factor and that 2,5-HD may be a risk element for visual loss in LHON. This proof of principle has broad implications for other neurodegenerative disorders such as Parkinson's disease
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