High Prevalence Of α-thalassemia Among Individuals With Microcytosis And Hypochromia Without Anemia

In order to determine the contribution of α-thalassemia to microcytosis and hypochromia, 339 adult outpatients seen at Unicamp University Hospital (with the exception of the Clinical Hematology outpatient clinics), who showed normal hemoglobin (Hb) levels and reduced mean corpuscular volume and mean corpuscular hemoglobin, were analyzed. Ninety-eight were Blacks (28.9%) and 241 were Caucasians (71.1%). In all cases, Hb A2 and F levels were either normal or low. The most common deletional and nondeletional forms of α-thalassemia [-α3.7, -α4.2, -MED, -(α)20.5, αHphIα, αNcolα, ααNcoI and αTSAUDI] were investigated by PCR and restriction enzyme analyses. A total of 169 individuals (49.9%) presented α-thalassemia: 145 (42.8%) were heterozygous for the -α3.7 deletion (-α3.7/αα) and 18 (5.3%) homozygous (-α3.7/-α3.7), 5 (1.5%) were heterozygous for the nondeletional form αHPhlα/αα, and 1 (0.3%) was a -MED carrier (-MED/αα). Among the Blacks, 56 (57.1%) showed the -α3.7/ αα genotype, whereas 12 (12.2%) were -α3.7/-α3.7 and I (1.0%) was an αHPhlα carrier; among the Caucasians, 89 (36.9%) were -α3.7/αα, 6 (2.5%) had the -α3.7/-α3.7 genotype, 4 (1.7%) presented the nondeletional form (αHPhlα/αα), and 1 (0.4%) was a -MED carrier. These results demonstrate that α-thalassemia, mainly through the -α3.7 deletion, is an important cause of microcytosis and hypochromia in individuals without anemia. These data are of clinical relevance since these hematological alterations are often interpreted as indicators of iron deficiency.346759762Weatherall, D.J., Clegg, J.G., (1981) The Thalassaemia Syndromes. 3rd Edn., , Blackwell Scientific Publications, OxfordBunn, H.F., Forget, B.G., (1986) Hemoglobin: Molecular, Genetics and Clinical Aspects, , W.B. Saunders, PhiladelphiaHiggs, D.R., Vickers, M.A., Wilkie, A.O.M., Pretorius, I.M., Jarman, A.P., Weatherall, D.J., A review of the molecular genetics of the human α-globin gene cluster (1989) Blood, 73, pp. 1081-1104Kazazian H., Jr., The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990 (1990) Seminars in Hematology, 27, pp. 209-228Harteveld, K.L., Losekoot, M., Ajgam, H., Van Der Wielen, M., Giordano, P.C., Bernini, L.F., α-Thalassaemia in the Netherlands: A heterogeneous spectrum of both deletions and point mutations (1997) Human Genetics, 100, pp. 465-471Higgs, D.R., α-Thalassaemia (1993) Baillieres Clinical Haematology, 6, pp. 117-150Kattamis, A.C., Camaschella, C., Sivera, P., Surrey, S., Fortina, P., Human α-thalassemia syndromes: Detection of molecular defects (1996) American Journal of Hematology, 53, pp. 81-91Bianco, I., Cappabianca, M.P., Foglietta, E., Lerone, M., Deidda, G., Morlupi, L., Grisanti, P., Graziani, B., Silent thalassemias: Genotypes and phenotypes (1997) Haematologica, 82, pp. 269-280Galanello, R., Sollaino, C., Paglietti, E., Barella, S., Perra, C., Doneddu, I., Pirroni, M.G., Cao, A., α-Thalassemia carrier identification by DNA analysis in the screening for thalassemia (1998) American Journal of Hematology, 59, pp. 273-278Sonati, M.F., Costa, F.F., Hemoglobin Bart's in a Brazilian black population (1990) Brazilian Journal of Medical and Biological Research, 23, pp. 395-396Sonati, M.F., Farah, S.B., Ramalho, A.S., Costa, F.F., High prevalence of α-thalassemia in a Black population of Brazil (1991) Hemoglobin, 15, pp. 309-311Zago, M.A., Costa, F.F., Bottura, C., Hemoglobin H disease in three Brazilian families (1984) Revista Brasileira de Genética, 7, pp. 137-147Wenning, M.R.S.C., Kimura, E.M., Costa, F.F., Saad, S.T.O., Gervásio, S.A., De Jorge, S.B., Borges, E., Sonati, M.F., α-Globin genes: Thalassemic and structural alterations in a Brazilian population (2000) Brazilian Journal of Medical and Biological Research, 33, pp. 1041-1045Dodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of -α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis (1993) British Journal of Haematology, 82, pp. 105-111Bowden, D.K., Vickers, M.A., Higgs, D.R., A PCR-based strategy to detect the common severe determinants of a thalassaemia (1992) British Journal of Haematology, 81, pp. 104-108Oron-Karni, V., Filon, D., Oppenheim, A., Rund, D., Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR (1998) American Journal of Hematology, 58, pp. 306-310Hall, G.W., Thein, S.L., Newland, C.A., Chisholm, J.T.S., Kanavakis, E., Kattamis, C., Higgs, D.R., A base substitution (T→C) in codon 29 of the α2-globin gene causes α thalassemia (1993) British Journal of Haematology, 85, pp. 546-552Pearson, H.A., Ehrenkranz, R.A., Rinder, H.M., Hemosiderosis in a normal child secondary to oral iron medication (2000) Pediatrics, 105, pp. 429-43

The Integrated Assessment as the main goal for achieving an Ecosystem Approach to Management in the Western European Shelf Seas

Providing regional integrated ecosystem assessments (IEA) is a key challenge identified in the ICES Strategic Plan (2014-2018). IEAs are seen as a fundamental link between advice and ecosystem science inachieving Ecosystem Based Management (EBM).While EBM is not a new concept, difficulties in achieving such an ambitious goal have been highlighted by the extensive work conducted in this area. The implementation of new regulation policies, such as the Marine Strategy Framework Directive (MSFD) and the reformed Common Fisheries Policy (CFP) in Europe,have challenged the scientific community to rapidly react despite these difficulties and provide scientific advice to support management decisions concerning these policies. RegionalICES groups have been tasked with developing methods and tools for IEA in their corresponding ecoregions; this is the case of the Working Group on Ecosystem Assessment of Western European Shelf Seas (WGEAWESS). The role of this group is to implement, and test tools and methods for the advisory process, focusing on the North Atlantic European continental shelf, including Celtic Seas, Bay of Biscay and Iberian Waters. In this presentation we show the progress made within this WG during its initial three years of activity, in relation to some of the terms of reference already addressed. An adaptation of the ODEMM framework has been selected as a tool for identifying a) links between components, processes, pressures and states, and b) gaps in data availability and indicator implementation. Some preliminary results of a first IEA exercise will also been shownwith emphasis onthe MSFD descriptors D1 (biological diversity) and D4 (food webs)

The Azorean Biodiversity Portal: an internet database for regional biodiversity outreach

Copyright © 2010 The Natural History Museum.There is a growing interest in academia to provide biodiversity data to both the scientific community and the public. We present an internet database of the terrestrial lichens, bryophytes, vascular plants, molluscs, arthropods, vertebrates and coastal invertebrates of the Azores archipelago (Portugal, North Atlantic): the Azorean Biodiversity Portal (ABP, http://www.azoresbioportal.angra.uac.pt/). This is a unique resource for fundamental research in systematics, biodiversity, education and conservation management. The ABP was based on a regional species database (ATLANTIS), comprised of grid-based spatial incidence information for c. 5000 species. Most of the data rely on a comprehensive literature survey (dating back to the 19th century) as well as unpublished records from recent field surveys in the Azores. The ABP disseminates the ATLANTIS database to the public, allowing universal, unrestricted access to much of its data. Complementarily, the ABP includes additional information of interest to the general public (e.g. literature on Macaronesian biodiversity) together with images from collections and/or live specimens for many species. In this contribution we explain the implementation of a regional biodiversity database, its architecture, achievements and outcomes, strengths and limitations; we further include a number of suggestions in order to implement similar initiatives

Interim Report of the Working Group on Ecosystem Assessment of Western European Shelf Seas

The ICES Working Group on Ecosystem Assessment of Western European Shelf Seas (WGEAWESS) meeting was held in Lisbon (Portugal), on 24–28 April 2017. The meeting was attended by 8 participants from 4 countries and chaired by Steven Beggs, Northern Ireland (UK). This was the first year of the new 3-year Terms of Reference (ToR) for WGEAWESS. The main activities for the group at the 2017 meeting were to discuss progress and further development of work towards the ToRs a) Continue metadata compilation for all ecosystem components available for IEA development, b) Continue evaluation of data and trends for a regional Integrated Ecosystem Assessment (IEA). Identify ecosystem trends relevant to stock assessment and management. As an outcome of specific objectives to integrate the activities of WGEAWESS with sister IEA groups, the meeting was held back to back with both the ICES/HELCOM Working Group on Integrated Assessments of the Baltic Sea (WGIAB) and the Working Group on Comparative Analyses between European Atlantic and Mediterranean marine ecosystems to move towards an Ecosystem-based Approach to Fisheries (WGCOMEDA). This back to back meeting had many advantages and provided much opportunity for group integration and future collaboration

Neurocitoma central: relato de dois casos

Neurocitoma central é um tumor neuroectodérmico raro, geralmente localizado nos ventrículos laterais. Uma mulher de 26 anos e um homem de 33 anos apresentaram-se com hipertensão intracraniana. Exames de imagem revelaram tumor intraventricular heterogêneo, que impregnava por contraste, ocupando os ventrículos laterais e causando hidrocefalia. A mulher faleceu no pós-operatório e o homem está livre de recidiva após três anos. Ambos os tumores eram sólidos, com células arredondadas, lembrando oligodendroglia, positivas para sinaptofisina, cromogranina e NSE e algumas para GFAP, vimentina e proteína S-100. Microscopia eletrônica mostrou neurópilo entre os corpos celulares, mas sinapses eram raras63410841089Central neurocytomas are rare neuroectodermal tumors believed to arise from the subependymal matrix of the lateral ventricles. Case reports: A 26-year-old woman and a 33-year-old man each had a large, heterogeneous, contrast enhancing mass in the lateral ventricles at the foramen of Monro causing bilateral hydrocephalus. The woman died after surgery, but the man is asymptomatic after three years. Histopathology: Both tumors were composed of isomorphic rounded cells positive for synaptophysin, chromogranin and NSE, while some reacted for GFAP, vimentin and S-100 protein. Electron microscopy revealed neuropil-like tissue between cells, but synapses were rar

Practical issues affecting the utility of field survey data for biodiversity monitoring

There is growing emphasis on monitoring biodiversity in European waters not least due to the EC’s recent Marine Strategy Framework Directive (MSFD) listing biodiversity as one descriptor of ‘Good Environmental Status’ (GES). Member States already have various monitoring surveys in place, in particular groundfish and other fisheries surveys, which may provide a cost-effective way of assessing some elements of biodiversity. The MSFD recognises the “need to ensure, as far as possible, compatibility with existing programmes”. Although existing field surveys are a potential source of quantitative data for examining spatial and temporal biodiversity patterns, it must be acknowledged that such surveys were often not originally designed to monitor ‘biodiversity’, and long-term surveys may have had changes in survey design at some point, and/or subtle changes in survey protocols over time. Field surveys for infauna and plankton typically collect and preserve samples at sea, and subsequent laboratory work includes the use of reference collections, quality assurance and longer-term sample storage. Surveys with towed gears can collect large amounts of complex biological material which is typically processed at sea, and so different forms of quality assurance are required. The taxonomic knowledge, experience and enthusiasm of sea-going staff can also influence the biodiversity information collected (e.g. time spent sorting complex catches, species identification). Hence, matrices of species-station data can contain ‘artefacts’ that need to be understood and addressed before deriving biodiversity metrics, and may even necessitate some degree of data filtering. This paper uses field data from selected surveys to illustrate how various factors can affect ‘biodiversity information’