1,784 research outputs found

    Falta de estructura genética en las poblaciones chipriotas de Alectoris chukar (Aves, Galliformes), deducida de los datos de secuenciación del ADNmt

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    The Chukar (Alectoris chukar cypriotes) is the most common game bird in Cyprus. Since 1990 the Cypriot Government has established a restocking program with captive–reared birds. However, this program has not been guaranteed by checking the genetic nature of wild and farmed samples, either in the areas controlled by the Cypriot Government or in northern Cyprus. The sequencing of both Cytochrome–b and Control Region of the mitochondrial DNA was carried out for 61 Cypriot representatives and 14 specimens of the same subspecies from Crete and Israel. Only the A. chukar maternal lineage was found. A partitioning of Cypriot specimens among different clades was not reliably supported, whereas robust bootstrap values weighted for an evolutionary divergence between Cypriot and Cretan Chukars. An overall genetic homogeny of the Cypriot populations was disclosed, whatever their status (captive vs. wild stocks) and origin (Government controlled vs. occupied areas) would be, a higher nucleotide diversity of the wild vs. captive representatives notwithstanding. Key words: Chukar, Control Region, Cytochrome–b, Genetic diversity, mtDNA, Partridges.Una subespecie de la perdiz chucar (Alectoris chukar cypriotes) es el ave de caza más común de Chipre. A partir de 1990 el gobierno chipriota estableció un programa de repoblación utilizando aves criadas en cautividad. No obstante, dicho programa no ha sido avalado mediante la comprobación de la naturaleza genética de muestras tanto de ejemplares salvajes como de granja, ni en las zonas controladas por el gobierno chipriota ni en el norte de Chipre. Se ha llevado a cabo la secuenciación del citocromo-b y de la región de control del ADN mitocondrial de 61 ejemplares chipriotas y de 14 especimenes de la misma subespecie de Creta y de Israel. Sólo se encontró el linaje materno de A. chukar. No se pudo demostrar con fiabilidad el reparto de los especimenes chipriotas en distintos clados, mientras que unos valores bootstrap muy consistentes sustentaban una divergencia evolutiva entre las perdices chucar chipriotas y cretenses. Se reveló la existencia de una homogeneidad genética en las poblaciones chipriotas, cualquiera que fuera su estatus (linajes cautivos frente a salvajes) o su origen (zonas controladas por el gobierno frente a zonas ocupadas), por más que se diera una mayor diversidad de nucleótidos de los ejemplares salvajes frente a los cautivos. Palabras clave: Perdiz chucar, Región de control, Citocromo-b, Diversidad genética, ADNmt, Perdices

    A combined crystallographic and computational study on dexketoprofen trometamol dihydrate salt

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    Dexketoprofen trometamol is the tromethamine salt of dexketoprofen [(2S)-2-(3-benzoylphenyl)propanoic acid-2-amino-2-(hydroxymethyl)propane-1,3-diol], a nonsteroidal anti-inflammatory drug (NSAID) used for the treatment of moderate- to strong-intensity acute pain. The crystal structure of the hitherto sole known hydrate phase of dexketoprofen trometamol (DK-T_2H2O), as determined by single-crystal X-ray diffraction, is presented. The water molecules are arranged in dimers included in isolated sites and sandwiched between piles of trometamol cations. The molecular and crystal structures of DK-T_2H2O are analyzed and compared to those of the parent anhydrous crystal form DK-T_A. In both the crystal structures, all the potential H-bond donors and acceptor of the dexketoprofen and trometamol ions are engaged, and both the species crystallize in the P21 space group. However, during the DK-T_A➔DK-T_2H2O hydration process, the unique symmetry axis is not conserved, i.e., the ions are arranged in a different way with respect to the screw axis, even if the two crystal structures maintain structural blocks of DK anions and T cations. Quantum mechanical solid-state calculations provide some hints for the possible intermediate structure during the crystalline–crystalline hydration/dehydration process

    The role of the multidisciplinary evaluation of interstitial lung diseases: Systematic literature review of the current evidence and future perspectives

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    The opportunity of a multidisciplinary evaluation for the diagnosis of interstitial pneumonias highlighted a major change in the diagnostic approach to diffuse lung disease. The new American Thoracic Society, European Respiratory Society, Japanese Respiratory Society, and Latin American Thoracic Society guidelines for the diagnosis of idiopathic pulmonary fibrosis have reinforced this assumption and have underlined that the exclusion of connective tissue disease related lung involvement is mandatory, with obvious clinical and therapeutic impact. The multidisciplinary team discussion consists in amoment of interaction among the radiologist, pathologist and pulmonologist, also including the rheumatologist when considered necessary, to improve diagnostic agreement and optimize the definition of those cases in which pulmonary involvement may represent the first or prominent manifestation of an autoimmune systemic disease. Moreover, the proposal of classification criteria for interstitial lung disease with autoimmune features (IPAF) represents an effort to define lung involvement in clinically undefined autoimmune conditions. The complexity of autoimmune diseases, and in particular the lack of classification criteria defined for pathologies such as anti-synthetase syndrome, makes the involvement of the rheumatologist essential for the correct interpretation of the autoimmune element and for the application of classification criteria, that could replace clinical pictures initially interpreted as IPAF in defined autoimmune disease, minimizing the risk of misdiagnosis. The aim of this review was to evaluate the available evidence about the efficiency and efficacy of different multidisciplinary team approaches, in order to standardize the professional figures and the core set procedures that should be necessary for a correct approach in diagnosing patients with interstitial lung disease

    A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

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    We reported a 21 months-old boy with a complex epilepsy phenotype, developmental delay, and hyperkinetic movement disorders, associated with a deletion of the whole sodium channel gene cluster. Whether this unusual phenotype results from leading to haploinsufficiency of either SCN1A or SCN2A, or the combination of both, remains subject of speculation. However, nobody of the numerous reported patients with truncating mutations in SCN1A has ever manifested such a clinical phenotyp

    Ultra-high-field targeted imaging of focal cortical dysplasia: The intracortical black line sign in type IIB

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    BACKGROUND AND PURPOSE: Conventional MR imaging has limitations in detecting focal cortical dysplasia. We assessed the added value of 7T in patients with histologically proved focal cortical dysplasia to highlight correlations between neuropathology and ultra-high-field imaging. MATERIALS AND METHODS: Between 2013 and 2019, we performed a standardized 7T MR imaging protocol in patients with drug-resistant focal epilepsy. We focused on 12 patients in whom postsurgical histopathology revealed focal cortical dysplasia and explored the diagnostic yield of preoperative 7T versus 1.5/3T MR imaging and the correlations of imaging findings with histopathology. We also assessed the relationship between epilepsy surgery outcome and the completeness of surgical removal of the MR imaging-visible structural abnormality. RESULTS: We observed clear abnormalities in 10/12 patients using 7T versus 9/12 revealed by 1.5/3T MR imaging. In patients with focal cortical dysplasia I, 7T MR imaging did not disclose morphologic abnormalities (n = 0/2). In patients with focal cortical dysplasia II, 7T uncovered morphologic signs that were not visible on clinical imaging in 1 patient with focal cortical dysplasia IIa (n = 1/4) and in all those with focal cortical dysplasia IIb (n = 6/6). T2*WI provided the highest added value, disclosing a peculiar intracortical hypointense band (black line) in 5/6 patients with focal cortical dysplasia IIb. The complete removal of the black line was associated with good postsurgical outcome (n = 4/5), while its incomplete removal yielded unsatisfactory results (n = 1/5). CONCLUSIONS: The high sensitivity of 7T T2*-weighted images provides an additional tool in defining potential morphologic markers of high epileptogenicity within the dysplastic tissue of focal cortical dysplasia IIb and will likely help to more precisely plan epilepsy surgery and explain surgical failures

    Smart rogaining for computer science orientation

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    In this paper, we address the problem of designing new formats of computer science orientation activities to be offered during high school students internships in Computer Science Bachelor degrees. In order to cover a wide range of computer science topics as well to deal with soft skills and gender gap issues, we propose a teamwork format, called smart rogaining, that offer engaging introductory activities to prospective students in a series of checkpoints dislocated along the different stages of a rogaine. The format is supported by a smart mobile and web application. Our proposal is aimed at stimulating the interest of participants in different areas of computer science and at improving digital and soft skills of participants and, as a side effect, of staff members (instructors and university students). In the paper, we introduce the proposed format and discuss our experience in the editions organized at the University of Genoa before the COVID-19 pandemic (2019 and 2020 waves)
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