Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Metastatic Testicular Germ Cell Tumor or a Chemoresponsive Liver Hemangioma?

Testicular germ cell tumors are the most common solid organ malignancy in young adult men. The presence of non-pulmonary visceral metastasis is an independent factor that places such patients into the higher risk group. Hepatic hemangiomas are the most common tumors of the liver and are entirely benign. Overlap between these entities may occur, particularly when metastases are hypervascular. We describe a case of a 27-year-old man with a testicular germ cell tumor and a nodule in the right hepatic lobe suggestive of hemangioma. After three cycles of chemotherapy, a size reduction in the hepatic nodule was confirmed, and this lesion was removed. Pathology revealed a fibrosing hemangioma. In this case report, the authors discuss the possible mechanisms for the hemangioma chemotherapy response

Non-Small Cell Lung Cancer: Screening, Diagnosis, and Staging

Lung cancer is the leading cause of cancer deaths worldwide. Tobacco consumption is the primary cause of lung cancer, accounting for more than 85% 90% of all lung cancer deaths. Non-small cell lung cancer accounts for about 85% of all lung cancers. Several studies have shown that low-dose helical CT of the lung detects more nodules and lung cancers, including early-stage cancers, than does chest radiography. The National Lung Cancer Screening Trial results show that three annual rounds of low-dose CT screening reduce mortality from lung cancer. Despite the great debate around lung cancer screening, recently the National Comprehensive Cancer Network has come out in favor of lung cancer screening in an updated set of guidelines. All patients who present with suspect lung cancer should have a complete and meticulous history and physical examination performed to identify symptoms or physical findings suggestive of locally extensive or metastatic disease, assess pulmonary health status, identify significant comorbidities, and assess overall health status. Tissue sampling is required to confirm a diagnosis in all patients with suspected lung cancer. Non-surgical approaches, surgical approaches, or both may be used to obtain a tissue sample. Evaluation of the mediastinal lymph nodes is a key step in the further staging of the patient. The best way of evaluating mediastinal lymph nodes is still a matter of debate. The tumor node metastasis (TNM) International Staging System provides useful prognostic information and is used to stage all patients with non-small cell lung cancer. Recent trials added new data on screening and diagnostic approach. Those data will be reviewed in this paper

Spatial resolution on a small animal RPC-PET prototype operating under magnetic field

It has been demonstrated in previous work that the RPC-PET technology is able to deliver radioisotope image resolutions approaching the physical limits of the PET principle. Here we study, by simulation, the effect of the magnetic field on the positron range to evaluate whether the spatial resolution of the RPC-PET could be improved by using an intense magnetic field. Six positron emitters of interest to small animal PET imaging (18F, 11C, 15O, 68G, 62Cu and 86Y) are considered. Results suggest that a three-fold improvement on the spatial resolution may be obtained under a magnetic field of 10 T for the higher energy radioisotopes like 86Y or 62Cu, and by about 20% for the lower energy ones, like 18F or 11C.http://www.sciencedirect.com/science/article/B6TVD-4KV4MR8-15/1/efa4356ba16a85fd7740937bd0e672a

Very high position resolution gamma imaging with resistive plate chambers

In this study we present experimental results from a first prototype of a positron emission tomography system based on the resistive plate chamber (RPC) technology. The system is composed of two counting heads, each one containing 16 single-gap RPC detectors capable of detecting the photon interaction point in the transaxial plane. Uniformity studies were performed for image resolution and sensitivity, yielding a rather uniform image resolution close to 0.3 mm FWHM across the field of view. The contribution of the photons noncolinearity effect to the intrinsic spatial resolution was also studied, causing a variation from 0.52 to 0.63 mm when the system diameter ranges from 60 to 120 mm, in agreement with calculations.http://www.sciencedirect.com/science/article/B6TJM-4K5HV7F-9/1/7b655e08199d2b28acc8050106c2271

Evolutionary patterns and development prospects for e-government: a Delphi-based approach to perceptions of the administrative agent

Information technology is an open door for governments to service citizens in a more timely, cost-efficient and effective manner. Even considering citizen resistance, cultural adversity or changes in the economic agents’ relationship, few would contest that concern over the state of electronic government (e-government) has increased over the years. This concern has been responsible for the emergence of a wide range of new initiatives devoted to development of the information and knowledge society, which occupies a central place in government policies and planning strategies worldwide. In this paper, we aim to analyze the evolutionary patterns of e-government in Portugal and, based on an application of the Delphi technique, provide development prospects considering the perceptions of a panel of administrative agents. Despite the low use of e-government services, our study demonstrates that the administrative agent expresses overall satisfaction with its use. Additionally, the high level of modernization allows us to forecast the increased use of information and communication technologies in terms of e-government services

A influência das condições internas e do perfil dos colaboradores na orientação empreendedora das organizações de saúde

Nos últimos tempos, o conceito de intra-empreendedorismo tem vindo a ser conotado de maior importância, não só no meio académico, mas também nas organizações, dada a sua relevância em termos de modernização e aumento da competitividade face a outros mercados. Neste artigo, a nossa abordagem irá centrar-se na análise da influência do perfil dos profissionais de saúde dos serviços de medicina física e reabilitação (SMFR) e unidades de fisioterapia (UF) e das condições internas das organizações de saúde na orientação empreendedora da organização (OEO). A metodologia utilizada consistiu na recolha de informação primária, via inquérito por questionário aos membros das equipas dos SMFR/UF das organizações de saúde privadas, públicas e setor social da região norte e centro de Portugal. O estudo abrangeu 202 profissionais de saúde. Os resultados evidenciam que a organização das equipas dos SMFR/UF apresenta um comportamento (intra) empreendedor.info:eu-repo/semantics/publishedVersio

Statistical Model Applied To Ax By C1-x-y D Quaternary Alloys: Bond Lengths And Energy Gaps Of Alx Gay In1-x-y X (x=as, P, Or N) Systems

We extend the generalized quasichemical approach (GQCA) to describe the Ax By C1-x-y D quaternary alloys in the zinc-blende structure. Combining this model with ab initio ultrasoft pseudopotential calculations within density functional theory, the structural and electronic properties of Alx Gay In1-x-y X (X=As, P, or N) quaternary alloys are obtained, taking into account the disorder and composition effects. Results for the bond lengths show that the variation with the compositions is approximately linear and also does not deviate very much from the value of the corresponding binary compounds. The maximum variation observed amounts to 3.6% for the In-N bond length. For the variation of band gap, we obtain a bowing parameter b=0.26 eV for the (Ga0.47 In0.53 As)z (Al0.48 In0.52 As)1-z quaternary alloy lattice matched to InP, in very good agreement with experimental data. In the case of AlGaInN, we compare our results for the band gap to data for the wurtzite phase. 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The costs and benefits of packaging waste management systems in Europe: the perspective of local authorities

Local authorities are generally in charge of household packaging waste management operations, particularly in countries with Green Dot schemes or similar extended producer responsibility systems. This leads to the need of establishing a system of financial transfers between the packaging industry and the local authorities (regarding the costs involved in selective collection and sorting). In the present study, the costs and benefits of recycling from the perspective of local authorities are compared for Portugal, Belgium and Italy (in Lombardia region), adopting the same economic-financial methodology. The results show that the industry is not paying the net cost of packaging waste management. If the savings attained by diverting packaging waste from other treatment operations are not considered, it seems that the industry should increase the financial support to local authorities. However, if the avoided costs with other treatment are considered as a benefit for local authorities, the costs are generally outweighed by the benefits and the financial support could, therefore, be reduced

Evolution of 5-hydroxymethylfurfural (HMF) and furfural (F) in fortified wines submitted to overheating conditions

As furfural (F) and 5-hydroxymethylfurfural (HMF) are essentially formed from sugar dehydration, especially in food submitted to heat, they can be found in beverages, as well as fortified sweet wines. In order to assess the impact of temperature on Madeira winemaking, three traditional varieties of Madeira wines (Malvasia, Sercial and Tinta Negra Mole) were studied to evaluate the F and HMF contents. The wines were produced by two vinification processes, following traditional and modern methodologies, heated at standard conditions (30 °C and 45 °C, for 4 months) and compared with the same wines submitted to overheating conditions (55 °C, for 4 months). The RP-HPLC-DAD methodology used for the control of F and HMF during the process showed no significant changes in the wines maintained at 30 °C (canteiro) and a noticeable but controlled increase in the wines heated at 45 °C (estufagem) where values up to about 150 mg/L of HMF could be found in sweet wines. The strong relation of this compound with the sugar content and baking temperature stood out in the wines submitted to overheating conditions where values higher than 1 g/L could be found for sweeter wines, with HMF level being in general higher than F. The results clearly suggest that the amount of HMF in these fortified wines can be easily controlled when submitted to adequate conditions of heating during estufagem and storage. Furthermore, different temperatures for the baking of sweet and dry wines may be considered