Search results for "CYP"
showing 10 items of 480 documents
A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.
2011
Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…
Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up
2013
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.
Risk profiles for re-profiling sovereign debt
2015
Purpose – This paper aims to use a risk management approach for re-profiling of sovereign debt. It develops profiles that trade off expected cost of financing alternative debt structures against their risk. The risk profiles are particularly informative for countries facing sovereign debt crisis, as they allow us to identify, with high probability, debt unsustainability. Risk profiles for two eurozone countries with excessive debt, Cyprus and Italy, were developed. In addition, risk profiles were developed for a proposal to impose debt sanctions in the Ukrainian crisis and it was shown that the financial impact could be substantial. Design/methodology/approach – Using scenario analysis, a r…
Benthic hydroids from the south of Livingston Island (South Shetland Islands, Antarctica) collected by the Spanish Antarctic expedition Bentart 94
2006
Twenty-five species of benthic hydroids were collected during the Spanish Antarctic expedition Bentart 94 from the south of Livingston Island (Antarctica). All species are considered regarding autecology and geographical distribution. The systematic position amongst allied species is discussed when considered necessary. Antarctoscyphus asymmetricus and Symplectoscyphus nesioticus are reported for the second and the third time, respectively.
Multifaceted contributions of epidermal langerhans cells to cutaneous carcinogenesis.
2015
Cutaneous squamous cell carcinoma (SCC) is the most prevalent invasive malignancy with metastatic potential. The epidermis is exposed to a variety of environmental DNA-damaging chemicals, principal among which are polyaromatic hydrocarbons (PAH) ubiquitous in the environment, tobacco smoke, and broiled meats. Langerhans cells (LC) comprise a network of dendritic cells situated adjacent to basal, suprabasal, and follicular infundibular keratinocytes that when mutated can give rise to SCC, and LC-intact mice are markedly more susceptible than LC-deficient mice to chemical carcinogenesis provoked by initiation with the model PAH, 7,12-dimethylbenz[a]anthracene (DMBA). LC rapidly internalize an…
Effect of epidermal papillomatosis on survival of the freshwater fish Rutilus rutilus.
2004
Epidermal papillomatosis occurs in several marine and freshwater fish species. Previously, papillomatosis has been shown to induce mortality in juvenile carp. We studied the effect of epidermal papillomatosis on the survival of adult male roach Rutilus rutilus by caging naturally diseased, marked (by us) fish in the field. Within the constraints of the experimental design, there was no difference in survival between healthy, slightly diseased and heavily diseased fish. Therefore, we conclude that the possible effect of epidermal papillomatosis on the mortality of wild roach is relatively minor.
Selection of sampling adsorbents and optimisation and validation of a GC-MS/MS method for airborne pesticides
2017
ABSTRACTA methodology for the sampling and determination of airborne pesticides has been developed. The trapping efficiency of three adsorbents, namely XAD-2,XAD-4 and a sandwich sorbent (PUF-XAD2-PUF), was tested for 34 pesticides and the latter was selected because it presented the highest retention capacity without breakthrough. Pesticides were determined by gas chromatography coupled to an ion trap mass spectrometer in tandem. The method showed recoveries ranging from 70% to 120% with limits of quantification in the range of 16.1–322.6 pg m−3 when 155 m3 were sampled. This analytical strategy was applied to 10 indoor air samples collected in dwellings from the Valencian Region. Six pest…
Metabolic activation of dibenzo[a,l]pyrene by human cytochrome P450 1A1 and P450 1B1 expressed in V79 Chinese hamster cells.
1999
Metabolic activation of the strongly carcinogenic polycyclic aromatic hydrocarbon (PAH) dibenzo[a,l]pyrene (DB[a,l]P) and its trans-8,9-dihydrodiol (trans-8,9-diol) catalyzed by human cytochromes P450 (P450) 1A1 and 1B1 was investigated. DNA binding of DB[a,l]P in mammalian cell lines has previously been shown to be preferentially mediated by fjord region DB[a,l]P-11,12-dihydrodiol 13,14-epoxides (DB[a,l]PDE). In order to elucidate different capabilities of both P450 enzymes for metabolic activation of DB[a, l]P V79 Chinese hamster cells, stably expressing human P450s 1A1 or 1B1 have been exposed to the parent PAH or its racemic trans-8, 9-diol. For this purpose, synthesis and spectroscopic…
Unisexual flowers as a robust synapomorphy in Cariceae (Cyperaceae)? Evidence for bisexual flowers in Schoenoxiphium
2012
Abstract Cariceae, the largest tribe within Cyperaceae, comprises about 2000 species in five genera. Cariceae is usually considered to be distinct from other Cyperaceae by the presence of exclusively unisexual flowers and by the arrangement of the pistillate flowers in single-flowered spikelets that are enclosed by the flask-like spikelet prophyll (utricle or perigynium). The nature of several morphological features of the Cariceae inflorescence remains controversial. The staminate reproductive units, as well as earlier reported bisexual reproductive units in Schoenoxiphium have been considered to be reduced partial inflorescences, or flowers. Aims of this study are to test both interpretat…
Distribution of graminoids in open habitats in Tajikistan and Kyrgyzstan
2022
Aims: Landscapes of Middle Asia are exposed to human influence due to long-lasting pastoral tradition, and now are largely dominated by non-forest vegetation. Graminoids perform key ecosystem functions, and constitute an important feed source for livestock. We studied the distribution patterns of graminoids cover under climatic and grazing pressure gradients in different open vegetation types. Study area: Tajikistan, Kyrgyzstan. Methods: 1,525 vegetation plots representing five open vegetation types (mires, salt marshes, tall-forb communities, pseudosteppes and steppes) were extracted from the Vegetation of Middle Asia Database. We assessed the relative cover of graminoid species in each ve…