3,007 research outputs found

    Disseminated superficial porokeratosis and pyoderma gangrenosus

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    Disseminated Superficial Actinic Porokeratosis (DSAP) is usually triggered by sun exposure. In some cases sun exposure is not essential and this skin disease is related to immunosuppression. Many associated diseases are described in the literature. We report a clinical case of a patient affected by pyoderma gangrenosum, who developed DSAP

    Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

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    Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations in the nuclear or mitochondrial genome encoding proteins involved in the oxidative phosphorylation (OXPHOS) system. MDs have a wide range of symptoms, ranging from organ-specific to multisystemic dysfunctions, with different clinical outcomes. The lack of natural history information, the limits of currently available preclinical models, and the wide range of phenotypic presentations seen in MD patients have all hampered the development of effective therapies. The growing number of pre-clinical and clinical trials over the last decade has shown that gene therapy is a viable precision medicine option for treating MD. However, several obstacles must be overcome, including vector design, targeted tissue tropism and efficient delivery, transgene expression, and immunotoxicity. This manuscript offers a comprehensive overview of the state of the art of gene therapy in MD, addressing the main challenges, the most feasible solutions, and the future perspectives of the field

    Analysis of Devices for Thermal Energy Consumption Monitoring and Design of A Bench Test for their Characterization

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    Abstract The mandatory introduction in Italy of the accounting of consumption for heating and domestic hot water in centralized heating systems has determined the introduction on the market of many commercial solutions based on different measuring principles. In order to find a proper method for testing the solutions proposed by the vendors, in the present work the uncertainty of the results reachable with the different types of measuring devices has been evaluated. Based on the best theoretical results achievable with the different types of devices the scheme of a test bed for the characterization of commercial systems is proposed

    Native cattle breeds of Southern Italy: karyological profile

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    Italian typical products of animal origin are strictly linked to native breeds. Their protection requires control of their reproductive and productive abilities. Hence the need for karyological studies to identify subjects with chromosome abnormalities linked to hypofertility or sterility. We report the results of karyological analyses carried out from January 2008 to December 2008 on 145 cattle of native breeds (Agerolese, Cinisara, Modicana and Podolica) reared in Southern Italy so as to evaluate and characterize the presence of chromosome abnormalities in subjects with normal phenotypes. Besides the 128 karyologically normal subjects (2n=60, XY and 2n=60, XX), 17 were carriers of rob (1;29) and one male was a carrier of cellular chimerism 2n=60, XX/XY. According to our data there is a high frequency of rob (1;29) in Cinisara and Podolica breeds while in Agerolese there was only one case of rob (1;29) and none in Modicana

    A tool for evaluating geothermal power exploitability and its application to Ischia, Southern Italy

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    The paper proposes a method to evaluate the potential for electric power production at any site of possible geothermal interest. Accounting for geological data of the reservoirs, the method allows the computation of the available electrical power of the investigated site. Electrical energy production from geothermal sources is realized through different techniques, such as single flash and double flash, dry steam, and binary ORC plants. The technique chosen to be the most productive is determined by analyzing a specific range of geofluid properties, mainly temperature and pressure. Moreover, each plant typology has a global efficiency that may be correlated to geofluid enthalpy by empiric relations available in literature. The proposed evaluation method brings together all these correlations, yielding the power availability from a geosource, once its temperature and pressure are known. The method takes as input the geofluid available flow rate, its pressure, temperature and non-condensable gas content. It defines the best plant option from these parameters, calculates its global efficiency and finally returns the actual available power. For sites of geothermic interest, such as the volcanic island of Ischia in Southern Italy, the results of the application of this new method clearly highlight the most suitable zones for power plants installations

    An improved characterization of horse (Equus caballus, 2n=64) chromosomes by using replicating G and R banding patterns

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    Abstract Peripheral blood lymphocytes were cultured and treated for early- and late-BrdU incorporation to perform replicating G- and R-banding patterns, respectively. Slides were treated for GBG-, RBA- and RBG-banding techniques. Improved banded karyotypes at early- (350 bands) and pro-metaphase (500 bands) stage were performed and GBG- and RBA-banded prometaphase karyotypes were presented for the first time on this species. All chromosomes, including the small acrocentrics, show clear and distinguishable G- and R-banding patterns. Chromosome identification followed the latest chromosome standard nomenclature (ISCNH 1997). This study is also our contribution to further standard karyotype attempts at the prometaphase stage

    Chromosome analyses in dairy cows exposed to dioxins and dioxin-like PCBs using the SCE test

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    Peripheral blood cultures were performed to study the sister chromatid exchanges (SCE) in samples from 15 cows (Valdostana x Piedmontese crossbreds) showing average milk values of dioxins+furans+PCBs higher (18.56 pg/g of fat as WHO-TEQ) than those permitted (6.0 pg/g of dioxins+furans+PCBs as WHO-TEQ) and the results were compared with samples from 16 Valdostana dairy cows (1.75 pg/g of fat as WHO-TEQ) used as control. Significant (P<0.01) higher mean number of SCE/cell (7.10±2.8) were found in cows showing higher levels of dioxins and PCB compared to those achieved in the controls (SCE/cell=5.24±2.51)

    Chromosome fragility in dairy cows exposed to dioxins and dioxin-like PCBs

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    In this study, we compared cross-bred dairy cows in the Susa Valley (Piedmont, northern Italy), reared either near a high-temperature steel production plant (Farms A and B) or in an industry-free area (control). Exposed cows (n 5 36) were selected based on mean bulk milk toxic equivalent values of polychlorodibenzodioxins (PCDDs) and dioxin-like (DL) polychlorobiphenyls (PCBs) and polychlorodi-benzofurans (PCDFs) equal to 18.56 pg/g fat and 8.56 pg/g of fat in dairy cows from Farms A and B, respectively, exceeding both those permitted by the legislation in force (6 pg/g fat PCDDs and DL-PCDFs/PCBs), and those measured in dairy cows (n 5 19) of the farm used as control (1.75 pg/g of fat PCDDs and DL-PCDFs/PCBs). Two types of peripheral blood cell cultures were per-formed: without (normal cultures for the chromosom

    Mirrors Improve Rabbit Natural Behavior in a Free-Range Breeding System

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    The aim of this research was to evaluate the possible usefulness of mirrors in improving rabbit behavior in a free-range breeding system. Three groups (each consisting of nine replicates of three animals) were compared: isolated, isolated with mirrors and separated by a wire mesh (possible visual and olfactory contacts). Rabbits allowed to have a visual and olfactory contact showed a significantly higher expression of important natural behaviors (olfactory investigation, gnawing, alertness, stretching, locomotion) compared to the isolated rabbits (with or without mirrors); while rabbits in the mirror group showed higher allo-grooming activity than those isolated and no different locomotion activity than those separated by wire mesh. Thus, mirrors seemed to be able to modify the behavioral repertoire of isolated rabbits by acting on social perception in rabbits reared in small groups in a free-range system. Nevertheless, despite it being advisable to use a combination of different indicators in order to assess the stress level of an animal, the accuracy of serum cortisol, as well as of some secondary stress markers assay, appeared to be limited in this type of breeding
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