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- Determination of trace elements in agglomerated cork stoppers using inductively Coupled Plasma Mass Spectrometry (ICP-MS)Publication . Gueifão, Sandra; Nascimento, Ana Cláudia; André, Catarina; Coelho, Inês; Castanheira, IsabelQuercus Suber L. is a native species of the Mediterranean region yielding a thick bark, known as cork, used mainly in the production of wine stoppers. The levels of trace elements are an important component of quality, safety and origin of the agglomerated corks stoppers in contact with food. In the present work the concentration of the following elements was determined: Chromium (Cr), Nickel (Ni), Arsenic (As), Cadmium (Cd), Selenium (Se), Lead (Pb), Iron (Fe), Zinc (Zn), Copper (Cu) and Manganese (Mn). Since almost no published work can be found on this subject it was necessary to study all stages of the process. Sampling was made by the producer who sent representative bagged samples to the laboratory. Subsequently it was necessary to have a reliable sample preparation method before the analysis. To do so the sample preparation step was optimized by employing and comparing two distinct methods to destroy the organic matrix: dry ashing and microwave digestion. Afterwards samples were analysed by two different techniques, trace elements were determined by Inductively Coupled Plasma Mass Spectrometry (ICP-MS) and the remaining ones by Inductively Coupled Plasma Optical Emission Spectrometry (ICP-OES). Both techniques enable the quantification of elements with ICP-MS allowing lower detection limits (ppb and/or ppt) than ICP-OES (ppm) in a complex matrix such as agglomerated cork stoppers. Several elements were found in the sample. These elements may originate from the cork or by contamination of the manufacturing process of agglomerated cork stoppers. Microwave digestion proved to be the best sample preparation method since the results from reproducibility and repeatability were better than the ones obtained from dry ashing.
- Complicated Meningitis caused by a rare serotype of Haemophilus influenzae in PortugalPublication . Calado, Rita; Betencourt, Célia; Gonçalves, Helder; Cristino, Nuno; Calhau, Paulo; Bajanca Lavado, PaulaWe report a case of meningitis due to Haemophilus influenzae serotype d strain in an infant. As far as we know, this is the first report of a serotype d strain, responsible for childhood invasive disease in Europe, demonstrating an emerging of H. influenzae non-b serotype, in the post-vaccination era.
- Estimates of pandemic influenza vaccine effectiveness in Europe, 2009-2010: results of Influenza Monitoring Vaccine Effectiveness in Europe (I-MOVE) multicentre case-control studyPublication . Valenciano, Marta; Kissling, Esther; Cohen, Jean-Marie; Oroszi, Beatrix; Barret, Anne-Sophie; Rizzo, Caterina; Nunes, Baltazar; Pitigoi, Daniela; Larrauri Cámara, Amparro; Mosnier, Anne; Horvath, Judith K.; O'Donnell, Joan; Bella, Antonino; Guiomar, Raquel; Lupulescu, Emilia; Savulescu, Camelia; Ciancio, Bruno C.; Kramarz, Piotr; Moren, AlainA multicentre case-control study based on sentinel practitioner surveillance networks from seven European countries was undertaken to estimate the effectiveness of 2009-2010 pandemic and seasonal influenza vaccines against medically attended influenza-like illness (ILI) laboratory-confirmed as pandemic influenza A (H1N1) (pH1N1).
- Identificação de factores de susceptibilidade para os Distúrbios do Espectro do AutismoPublication . Moura Vicente, Astrid
- Clostridium difficile infection in Europe: a hospital-based surveyPublication . Bauer, MP; Notermans, DW; van Benthem, BH; Brazier, JS; Wilcox, MH; Rupnik, M; Monnet, DL; van Dissel, JT; Kuijper, EJ; Machado, JorgeBACKGROUND: Little is known about the extent of Clostridium difficile infection in Europe. Our aim was to obtain a more complete overview of C difficile infection in Europe and build capacity for diagnosis and surveillance. METHODS: We set up a network of 106 laboratories in 34 European countries. In November, 2008, one to six hospitals per country, relative to population size, tested stool samples of patients with suspected C difficile infection or diarrhoea that developed 3 or more days after hospital admission. A case was defined when, subsequently, toxins were identified in stool samples. Detailed clinical data and stool isolates were collected for the first ten cases per hospital. After 3 months, clinical data were followed up. FINDINGS: The incidence of C difficile infection varied across hospitals (weighted mean 4·1 per 10,000 patient-days per hospital, range 0·0-36·3). Detailed information was obtained for 509 patients. For 389 of these patients, isolates were available for characterisation. 65 different PCR ribotypes were identified, of which 014/020 (61 patients [16%]), 001 (37 [9%]), and 078 (31 [8%]) were the most prevalent. The prevalence of PCR-ribotype 027 was 5%. Most patients had a previously identified risk profile of old age, comorbidity, and recent antibiotic use. At follow up, 101 (22%) of 455 patients had died, and C difficile infection played a part in 40 (40%) of deaths. After adjustment for potential confounders, an age of 65 years or older (adjusted odds ratio 3·26, 95% CI 1·08-9·78; p=0·026), and infection by PCR-ribotypes 018 (6·19, 1·28-29·81; p=0·023) and 056 (13·01; 1·14-148·26; p=0·039) were significantly associated with complicated disease outcome. INTERPRETATION: PCR ribotypes other than 027 are prevalent in European hospitals. The data emphasise the importance of multicountry surveillance to detect and control C difficile infection in Europe.
- Identification of SOX3 as an XX male sex reversal gene in mice and humansPublication . Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Gonçalves, João; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, PaulSex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad.
- Preparation and validation of the first WHO international genetic reference panel for Fragile X syndromePublication . Hawkins, M.; Boyle, J.; Wright, K.E.; Elles, R,; Ramsden, S.C.; O'Grady, A.; Sweeney, M.; Barton, D.E.; Burgess, T.; Moore, M.; Burns, C.; Stacey, G.; Gray, E.; Metcalfe, P.; Hawkins, J.R.Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5¢ untranslated region of the FMR1 gene, resulting in promoter hypermethylation and suppression of FMR1 transcription. Additionally, pre-mutation alleles in carrier males and females may result in Fragile X tremor ataxia syndrome and primary ovarian insufficiency, respectively. Fragile X is one of the most commonly requested molecular genetic tests worldwide. Quality assessment schemes have identified a wide disparity in allele sizing between laboratories. It is therefore important that clinical laboratories have access to characterized reference materials (RMs) to aid accurate allele sizing and diagnosis. With this in mind, a panel of genotyping RMs for Fragile X syndrome has been developed, which should be stable over many years and available to all diagnostic laboratories. Immortalized cell lines were produced by Epstein–Barr virus transformation of lymphocytes from consenting patients. Genomic DNA was extracted in bulk and RM aliquots were freeze-dried in glass ampoules. Twenty-one laboratories from seventeen countries participated in a collaborative study to assess their suitability. Participants evaluated the samples (blinded, in triplicate) in their routine methods alongside in-house and commercial controls. The panel of five genomic DNA samples was endorsed by the European Society of Human Genetics and approved as an International Standard by the Expert Committee on Biological Standardization at the World Health Organization
- Um novo mecanismo molecular para a regulação do transportador de glicose GLUT1Publication . Mendes, A.I.; Matos, P.; Moniz, S.; Jordan, P.One mechanism by which cells regulate the uptake of glucose is the number of glucose transporter proteins (GLUT) present at the plasma membrane. In insulin-responsive cells types, GLUT4 is released from intracellular storage vesicles through inactivation of the Rab GTPase activating protein TBC1D4, also known as AS160. Using protein biochemical techniques we analysed complex formation between TBC1D4 and protein kinase WNK1 in human embryonic kidney (HEK293) cells. We found that WNK1 associates in a protein complex with TBC1D4 and phosphorylates TBC1D4 in vitro. This resulted in increased expression levels of the constitutive glucose transporter GLUT1 at the cell surface. WNK1 was found to increase the binding of TBC1D4 to regulatory 14-3-3 proteins while reducing its interaction with the exocytic small GTPase Rab8A. These effects were dependent on the catalytic activity because expression of a kinase-dead WNK1 mutant had no effect on binding of 14-3-3 and Rab8A, or on surface GLUT1 levels. Together, the data describe a molecular pathway regulating constitutive glucose uptake via GLUT1, the expression level of which is related to several human diseases. This pathway may be important in the cellular response to insulin.
- NanoLINEN: Nanotoxicology Link Between India and European NationsPublication . Dhawan, Alok; Shanker, Rishi; Laffon, Blanca; Tajes, Juan Fernandez; Fuchs, Dietmar; van der Laan, Gert; van Broekhuizen, Pieter; Becker, Heidi; Moriske, Heinz-Jorn; Teixeira, João Paulo; Carriere, Marie; Herlin-Boime, Nathalie; Engin, Ayse Basak; Coskun, Erdem; Karahalil, BensuNanotoxicology link between India and European Nations (NanoLINEN) is a consortium of 7 European laboratories and Indian Institute of Toxicology Research (CSIR Laboratory) from India to strengthen the research ties in the area of Nanomaterial Toxicology. The goal of this project is to develop robust risk assessment methodologies that will be useful for the community manufacturing and using nano-products.
- Second Annual Meeting of the Invasive Bacterial Diseases Surveillance Network in Europe: meeting reportPublication . European Center for Disease Control and PreventionThe invasive bacterial diseases (IBD) surveillance network is coordinated by the surveillance unit at the European Centre for Disease Prevention and Control (ECDC). During the meeting, held over 16–17 November 2010, an overview of general surveillance—including TESSy activities—was presented, ranging from a presentation on the ECDC programme and goals for the coming years to development of the new IBD metadataset in TESSy and the progress of laboratory surveillance activities in the EU.
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