38 research outputs found

    Pre-Alpine and Alpine deformation at San Pellegrino pass (Dolomites, Italy)

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    In this work, we present the geological map of the San Pellegrino pass, inserted in the spectacular scenario of the Dolomiti region (Southern Alps, Italy), at a scale of 1:10.000 and accompanied by geological cross-sections. The detailed distinction of lithological thin units allowed to achieve a consistent interpretation of the local structural setting by drawing brittle and ductile Alpine tectonic deformations. The differential deformation and structural styles within the geological map are the result of the different rheological nature of volcanic and sedimentary rocks, as well as of the superimposition of compressional Alpine tectonics over Permo-Mesozoic extensional tectonic phases, and consequent reactivation of inherited structures

    Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series

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    Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with defective cytotoxic function. The age at onset is usually young and the natural course is rapidly fatal if untreated. A later onset of the disease has been sporadically reported even in adolescents and adults. We report the results of our retrospective data collection of all cases diagnosed with FHL at an age of 18 years or older and enrolled in the Italian Registry of HLH. All cases were diagnosed with FHL based on evidence of genetic defect in one FHL-related gene. A total of 11 patients were diagnosed with FHL. They were 9 males and 2 females, from 10 unrelated families; their age ranged between 18 and 43 years (median, 23 years). Family history was unremarkable in eight families at the time of the diagnosis. Their genetic diagnoses are: FHL2 (n = 6), FHL3 (n = 2), FHL5 (n = 1), XLP1 (n = 2). Clinical, molecular and functional data are described. These data confirm that FHL may present beyond the pediatric age and up to the fifth decade. FHL2 due to perforin defect is the most frequently reported subtype. Adult specialists should consider FHL in the differential diagnosis of patients with cytopenia and liver or central nervous system disorders, especially when a lymphoproliferative disease is suspected but eventually not confirmed. FHL may turn to be fatal within a short time course even in adults. This risk, together with the continuous improvement in the transplant technique, especially in the area of transplant from matched unrelated donor, resulting in reduced treatment related mortality, might suggest a wider use of SCT in this population. Current diagnostic approach allows prompt identification of patients by flow-cytometry screening, then confirmed by the genetic study, and treatment with chemo-immunotherapy followed by stem cell transplantation

    Phenotypic effects induced by knock-down of the period clock gene in Bombyx mori.

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    SummaryThe lepidopteranBombyx moriis an insect of considerable scientific and economic importance. Recently, theB. moricircadian clock geneperiodhas been molecularly characterized. We have transformed aB. moristrain with a construct encoding aperioddouble-strand RNA in order to knock-downperiodgene expression. We observe that this post-transcriptional silencing produces a small but detectable disruption in the egg-hatching rhythm, as well as a reduction in egg-to-adult developmental time, without altering silk production parameters. Thus we show that both circadian and non-circadian phenotypes can be altered by changingperexpression, and, at a practical level, these results suggest thatperknock-down may provide a suitable strategy for improving the efficiency of rearing, without affecting silk productivity

    A B-cell receptor-related gene signature predicts survival in mantle cell lymphoma: Results from the Fondazione Italiana Linfomi MCL-0208 trial

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    Mantle cell lymphoma patients have variable clinical courses, ranging from indolent cases that do not require immediate treatment to aggressive, rapidly progressing diseases. Thus, diagnostic tools capable of stratifying patients according to their risk of relapse and death are needed. This study included 83 samples from the Fondazione Italiana Linfomi MCL-0208 clinical trial. Through gene expression profiling and quantitative real-time PCR we analyzed 46 peripheral blood and 43 formalin-fixed paraffin-embedded lymph node samples. A prediction model to classify patients was developed. By analyzing the transcriptome of 27 peripheral blood samples, two subgroups characterized by a differential expression of genes from the B-cell receptor pathway (B-cell receptor low and B-cell receptor high ) were identified. The prediction model based on the quantitative real-time PCR values of six representative genes (AKT3, BCL2, BTK, CD79B, PIK3CD, and SYK), was used to classify the 83 cases (43 B-cell receptor low and 40 B-cell receptor high ). The B-cell receptor high signature associated with shorter progression-free survival (P=0.0074), selected the mantle cell lymphoma subgroup with the shortest progression-free survival and overall survival (P=0.0014 and P=0.029, respectively) in combination with high ( extgreater30%) Ki-67 staining, and was an independent predictor of short progression-free survival along with the Mantle Cell Lymphoma International Prognostic Index-combined score. Moreover, the clinical impact of the 6-gene signature related to the B-cell receptor pathway identified a mantle cell lymphoma subset with shorter progression-free survival intervals also in an external independent mantle cell lymphoma cohort homoge-nously treated with different schedules. In conclusion, this 6-gene signature associates with a poor clinical response in the context of the MCL-0208 clinical trial. (clinicaltrials.gov identifier: 02354313)

    Espécies e atividade de alumínio na solução de solo arenoso com adição de dejetos líquidos de suínos

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    The application of slurry may reducing the bioavailability the aluminum (Al), by increasing the concentration of soluble ligands. The study aimed to assess how the long-term use of pig slurry is able to modify the exchangeable Al content, activity, and distribution of chemical species of Al in soil solution. Soil samples of Typic Hapludalf were obtained from an experiment conducted for eight years with 19 pig slurry applications of 0, 20, 40 and 80 m3 ha-1 at the Federal University of Santa Maria, in Santa Maria, Rio Grande do Sul (RS), Brazil. The soil samples was collected stratified in layers, to determine exchangeable Al content and extract the solution. The soil solution concentrations of the main cations, anions, dissolved organic carbon and pH were assessed. The distribution of the chemical species of Al and the activity of the Al3+ species was obtained through Visual Minteq software. The history of pig slurry applications did not modify the exchangeable Al content and had little impact on Al3+ activity in soil solution. Pig slurry applications reduce the phytotoxic potential of Al by increasing the concentration of soluble inorganic ligands, thus increasing the proportion of AlHPO4+ and AlSO4+ in soil solutionO objetivo deste trabalho foi avaliar o efeito das aplicações de dejetos líquidos de suínos no teor de Al trocável, na atividade e na distribuição das espécies químicas de Al na solução do solo. Amostras de um Argissolo foram obtidas de um experimento conduzido durante oito anos, com 19 aplicações de 0, 20, 40 e 80 m3 ha-1 de dejetos líquidos de suínos. As amostras de solo foram coletadas em camadas, para determinação do Al trocável e extração da solução do solo pelo método da pasta de saturação. Na solução, foram determinados as concentrações dos principais cátions e ânions, o carbono orgânico dissolvido e o pH. A distribuição das espécies químicas de Al e a atividade da espécie Al3+ foram obtidas pelo programa Visual Minteq. A aplicação de dejetos líquidos de suínos não altera o teor de Al trocável no solo e a atividade de Al3+ na solução do solo. A baixa atividade de Al3+ nas camadas superficiais não apresenta risco de toxidez para a maioria das culturas. A adição de dejetos líquidos de suínos aumenta a proporção das espécies AlHPO4+ e AlSO4+ na solução do solo, por incrementar a concentração de ligantes inorgânicos solúveis

    How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

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    COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p < 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p < 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p < 0.0001) or urgent (20.4% vs. 38.5%; p < 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p < 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

    The clock gene period in the housefly, Musca domestica : a molecular analysis

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    The period gene (per) of Drosophila melanogaster, which lies at the core of the fly's circadian clock, controls a number of biological rhythms, including the circadian periodicity of locomotor activity and adult emergence from the pupal case. Levels of per gene products cycle with a 24 hour period, as required for a clock molecule. Furthermore, a temporal delay between the peak expression of per mRNA and protein suggests the existence of a negative feedback loop through which Per protein regulates the synthesis of its own mRNA.;In an attempt to determine the extent to which clock molecules and mechanisms are conserved among dipterans, I cloned the per homologue from the housefly, Musca domestica. The Musca per gene encodes a protein of 1072 amino acids in which areas of high similarity with Drosophila per are interspersed by non-conserved stretches. Areas of high conservation include the amino terminus, the PAS domain and the region surrounding the per5 mutation site of D. melanogaster. Successively I assessed Musca per functionality in the D. melanogaster circadian machinery. Behavioural analysis of transgenic per0 fruit flies expressing the Musca per homologue, demonstrates that the housefly per is able to replace endogenous per functions in the host's clock system.;Expression of per products was investigated in both housefly and transgenic fruitfly. Housefly per transcript levels display daily changes in abundance, similar to those observed in wild-type D. melanogaster. Circadian oscillations were also found in per levels in D. melanogaster transformants, albeit with a lower amplitude than those described for wild type. Expression of Per protein in both housefly and D. melanogaster transformants does not show the daily fluctuation characteristic of wild type D. melanogaster Per.;This comparative study suggests that the current model based on the negative feedback loop may be inadequate to explain the molecular mechanism underlying the circadian clock
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