941 resultados para rare allele
Resumo:
The thorium and rare-earth element (Th-REE) deposit at Morro do Ferro formed under supergene lateritic weathering conditions. The ore body consists of shallow NW-SE elongated argillaceous lenses that extend from the top of the hill downwards along its south-eastern slope. The deposit is capped by a network of magnetite layers which protected the underlying highly weathered, argillaceous host rock from excessive erosion. The surrounding country rocks comprise a sequence of subvolcanic phonolite intrusions that have been strongly altered by hydrothermal and supergene processes. From petrological, mineralogical and geochemical studies, and mass balance calculations, it is inferred that the highly weathered host rock was originally carbonatitic in composition, initially enriched in Th and REEs compared to the surrounding silicate rocks. The intrusion of the carbonatite caused fenitic alteration in the surrounding phonolites, consisting of early potassic alteration followed by a vein-type Th-REE mineralization with associated fluorite, carbonate, pyrite and zircon. Subsequent weathering has completely decomposed the carbonatite forming a residual supergene enrichment of Th and REEs. Initial weathering of the carbonatite has created a chemical environment that might have been conductive to carbonate and phosphate complexing of the REEs in groundwaters. This may have appreciably restricted the dissolution of primary REE phases. Strongly oxidic weathering has resulted in a fractionation between Ce and the other light rare earth elements (LREEs). Ce3+ is oxidized to Ce4+ and retained together with Th by secondary mineral formation (cerianite, thorianite), and by adsorption on poorly crystalline iron- and aluminium-hydroxides. In contrast, the trivalent LREEs are retained to a lesser degree and are thus more available for secondary mineral formation (Nd-lanthanite) and adsorption at greater depths down the weathering column. Seasonally controlled fluctuations of recharge waters into the weathering column may help to explain the observed repetition of Th-Ce enriched zones underlain by trivalent LREE enriched zones.
Resumo:
BACKGROUND Warthin's tumor or cystadenolymphoma (CAL) is a benign salivary gland tumor occurring almost exclusively in the parotid gland. CALs of other locations are rare. CASE PRESENTATION We report a laryngeal CAL detected in a positron emission tomography/computed tomography (PET/CT) performed for breast cancer follow-up. The tumor was successfully treated by transoral surgery. DISCUSSION Only 14 cases of laryngeal CAL are reported worldwide. These cases confirmed our experience of an uncomplicated and mostly successful transoral resection. CONCLUSION CALs of the larynx are very rare. They are characterized by hypermetabolism in PET/CT. The increasing use of PET/CT investigations in cancer patients could give rise to more incidental findings of CALs at unusual locations such as the larynx.
Resumo:
PURPOSE Small cell carcinomas of the bladder (SCCB) account for fewer than 1% of all urinary bladder tumors. There is no consensus regarding the optimal treatment for SCCB. METHODS AND MATERIALS Fifteen academic Rare Cancer Network medical centers contributed SCCB cases. The eligibility criteria were as follows: pure or mixed SCC; local, locoregional, and metastatic stages; and age ≥18 years. The overall survival (OS) and disease-free survival (DFS) were calculated from the date of diagnosis according to the Kaplan-Meier method. The log-rank and Wilcoxon tests were used to analyze survival as functions of clinical and therapeutic factors. RESULTS The study included 107 patients (mean [±standard deviation, SD] age, 69.6 [±10.6] years; mean follow-up time, 4.4 years) with primary bladder SCC, with 66% of these patients having pure SCC. Seventy-two percent and 12% of the patients presented with T2-4N0M0 and T2-4N1-3M0 stages, respectively, and 16% presented with synchronous metastases. The most frequent curative treatments were radical surgery and chemotherapy, sequential chemotherapy and radiation therapy, and radical surgery alone. The median (interquartile range, IQR) OS and DFS times were 12.9 months (IQR, 7-32 months) and 9 months (IQR, 5-23 months), respectively. The metastatic, T2-4N0M0, and T2-4N1-3M0 groups differed significantly (P=.001) in terms of median OS and DFS. In a multivariate analysis, impaired creatinine clearance (OS and DFS), clinical stage (OS and DFS), a Karnofsky performance status <80 (OS), and pure SCC histology (OS) were independent and significant adverse prognostic factors. In the patients with nonmetastatic disease, the type of treatment (ie radical surgery with or without adjuvant chemotherapy vs conservative treatment) did not significantly influence OS or DFS (P=.7). CONCLUSIONS The prognosis for SCCB remains poor. The finding that radical cystectomy did not influence DFS or OS in the patients with nonmetastatic disease suggests that conservative treatment is appropriate in this situation.
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Various types of proton-irradiated lead–bismuth eutectic (LBE) samples from the MEGAPIE prototype spallation target were analyzed concerning their content of 148Gd, 173Lu, and 146Pm by use of α- and γ-spectrometry. A radiochemical separation procedure was developed to isolate the lanthanide fraction and to prepare thin samples for α-ray measurement. The results prove a substantial depletion of these three elements in bulk samples, whereas accumulation on the LBE/steel-interfaces was observed. The amount of material accumulated on surfaces was roughly estimated by relating the values measured on the sample surfaces to the total surface of the inner target walls. The amount of 148Gd, 173Lu, and 146Pm was then quantified by summing up the contributions from every sample type. The results show a reasonable agreement with theoretical predictions. The obtained results are of utmost importance for the evaluation of the performance of high-power spallation targets, especially concerning the residual nuclide production, the physicochemical behavior of the produced radionuclides during operation, and in terms of an intermediate or final disposal.
Resumo:
Cutaneous collagenous vasculopathy (CCV) is a rare idiopathic microangiopathy of the cutaneous vasculature characterized histologically by the presence of dilated small blood vessels with flat endothelial cells and thickened walls containing hyaline material in the upper dermis. We report an elderly patient presenting with an extensive form of CCV involving the trunk, upper and lower limbs. She was treated with Multiplex PDL 595-nm/Nd:YAG 1,064-nm laser and optimized pulsed light. This approach, which has never been reported for CCV so far, resulted in a striking and almost complete clearance of the widespread lesions. We here review our knowledge about CCV and therapeutic options available with a survey of the literature.
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Stochastic simulation is an important and practical technique for computing probabilities of rare events, like the payoff probability of a financial option, the probability that a queue exceeds a certain level or the probability of ruin of the insurer's risk process. Rare events occur so infrequently, that they cannot be reasonably recorded during a standard simulation procedure: specifc simulation algorithms which thwart the rarity of the event to simulate are required. An important algorithm in this context is based on changing the sampling distribution and it is called importance sampling. Optimal Monte Carlo algorithms for computing rare event probabilities are either logarithmic eficient or possess bounded relative error.
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Aims Reintroduction has become an important tool for the management of endangered plant species. We tested the little-explored effects of small-scale environmental variation, genotypic composition (i.e. identity of genotypes), and genotypic diversity on the population survival of the regionally rare clonal plant Ranunculus reptans. For this species of periodically inundated lakeshores genetic differentiation had been reported between populations and between short-flooded and long-flooded microsites within populations.Methods We established 306 experimental test populations at a previously unoccupied lake shore, comprising either monocultures of 32 genotypes, mixtures of genotypes within populations or mixtures of genotypes between populations. In 2000, three years after planting out at the experimental site, a long-lasting flood caused the death of half of the experimental populations. In 2003, an extreme drought resulted in the lowest summer water levels ever measured.Important findings Despite these climatic extremes, 27 of the established populations survived until the end of the experiment in December 2003. The success of experimental populations largely differed between microsites. Moreover, the success of genotype monocultures depended on genotype and source population. Genetic differentiation between microsites played a minor role for the success of reintroduction. After the flood, populations planted with genotypes from different source populations increased in abundance, whereas populations with genotypes from single source populations and genotype monocultures decreased. We conclude that sources for reintroductions need to be selected carefully. Moreover, mixtures of plants from different populations appear to be the best choice for successful reintroduction, at least in unpredictably varying environments.
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Occurring for the first time in 1986 in the United Kingdom, bovine spongiform encephalopathy (BSE), the so-called “mad-cow disease”, has had unprecedented consequences in veterinary public health. The implementation of drastic measures, including the ban of meat-and-bone-meal from livestock feed and the removal of specified risk materials from the food chain has eventually resulted in a significant decline of the epidemic. The disease was long thought to be caused by a single agent, but since the introduction of immunochemical diagnostic techniques, evidence of a phenotypic variation of BSE has emerged. Reviewing the literature available on the subject, this paper briefly summarizes the current knowledge about these atypical forms of BSE and discusses the consequences of their occurrence for disease control measures.