Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Fragile sites appear visually as nonstaining gaps on chromosomes that are inducible by specific cell culture conditions. Expansion of CGG/ CCG repeats has been shown to be the molecular basis of all five folate-sensitive fragile sites characterized molecularly so far, i.e., FRAXA, FRAXE, FRAXF, FRA11B, and FRA16A. In the present study we have refined the localization of the FRA10A folate-sensitive fragile site by fluorescence in situ hybridization. Sequence analysis of a BAC clone spanning FRA10A identified a single, imperfect, but polymorphic CGG repeat that is part of a CpG island in the 5'UTR of a novel gene named FRA10ACl. The number of CGG repeats varied in the population from 8 to 13. Expansions exceeding 200 repeat units were methylated in all FRA10A fragile site carriers tested. The FRA10ACl gene consists of 19 exons and is transcribed in the centromeric direction from the FRA10A repeat. The major transcript of similar to 1450 nt is ubiquitously expressed and codes for a highly conserved protein, FRA10ACl, of unknown function. Several splice variants leading to alternative 3' ends were identified (particularly in testis). These give rise to FRA10ACl proteins with altered COOH-termini. Immunofluorescence analysis of full-length, recombinant EGFP-tagged FRA10ACl protein showed that it was present exclusively in the nucleoplasm. We show that the expression of FRA10A, in parallel to the other cloned folate-sensitive fragile sites, is caused by an expansion and subsequent methylation of an unstable CGG trinucleotide repeat. Taking advantage of three cSNPs within the FRA10ACl gene we demonstrate that one allele of the gene is not transcribed in a FRA10A carrier. Our data also suggest that in the heterozygous state FRA10A is likely a benign folate-sensitive fragile site. (C) 2004 Elsevier Inc. All rights reserved.

Analysis of Detergent-Insoluble and Whole Cell Lysate Fractions of Resting Neutrophils Using High-Resolution Mass Spectrometry

Neutrophilic granulocytes play a major role in the initiation and resolution of the inflammatory response, and demonstrate significant transcriptional and translational activity. Although much was known about neutrophils prior to the introduction of proteomics, the use of MS-based methodologies has provided an unprecedented tool to confirm and extend previous findings. In the present study, we performed a Gel-LC-MS/MS analysis of neutrophil detergent insoluble and whole cell lysate fractions of resting neutrophils. We achieved a set of identifications through the use of high-resolution mass spectrometry and validation of its data. We identified a total of 1249 proteins with a wide range of intensities from both detergent-insoluble and whole cell lysate fractions, allowing a mapping of proteins such as those involved in intracellular transport (Rab and Sec family proteins) and cell signaling (S100 proteins). These results represent the most comprehensive proteomic characterization of resting human neutrophils to date, and provide important information relevant for further studies of the immune system in health and disease. The methods applied here can be employed to help us understand how neutrophils respond to various physiologic and pathophysiologic conditions and could be extended to protein quantitation after cell activation.

Causal and localizable quantum operations

We examine constraints on quantum operations imposed by relativistic causality. A bipartite superoperator is said to be localizable if it can be implemented by two parties (Alice and Bob) who share entanglement but do not communicate, it is causal if the superoperator does not convey information from Alice to Bob or from Bob to Alice. We characterize the general structure of causal complete-measurement superoperators, and exhibit examples that are causal but not localizable. We construct another class of causal bipartite superoperators that are not localizable by invoking bounds on the strength of correlations among the parts of a quantum system. A bipartite superoperator is said to be semilocalizable if it can be implemented with one-way quantum communication from Alice to Bob, and it is semicausal if it conveys no information from Bob to Alice. We show that all semicausal complete-measurement superoperators are semi localizable, and we establish a general criterion for semicausality. In the multipartite case, we observe that a measurement superoperator that projects onto the eigenspaces of a stabilizer code is localizable.

Characterizing mixing and measurement in quantum mechanics

What fundamental constraints characterize the relationship between a mixture rho = Sigma (i)p(i)rho (i) of quantum states, the states rho (i) being mixed, and the probabilities p(i)? What fundamental constraints characterize the relationship between prior and posterior states in a quantum measurement? In this paper we show that then are many surprisingly strong constraints on these mixing and measurement processes that can be expressed simply in terms of the eigenvalues of the quantum states involved. These constraints capture in a succinct fashion what it means to say that a quantum measurement acquires information about the system being measured, and considerably simplify the proofs of many results about entanglement transformation.

Nutritional status of children of urban low-income communities, Brazil (1986)

During the second half of 1986 the health and nutritional status of 254 children aged up to six years was studied, as well as the socio-economic situation of their parents in two favelas (shantytowns) in Belo Horizonte, Brazil. The nutritional status of the children was characterized by stunting (Z-score: 20.1% < -2) but not by wasting (Z-score: 3.7% < -2). Consideration was also given to how far stunting was caused by high morbidity such as acute respiratory infections (point prevalence: 38.5%), diarrheal diseases (point prevalence: 11.5%) and parasitosis (point prevalence: 70.3%). Furthermore, anemia (point prevalence: 29.7%) appeared as another health problem. The most important determinant of anthropometric indices turned out to be the mother's schooling. From the present data it can be hypothesized that the nutritional status of the children was limited less by the lack of food than by their poor health status.

The impact of improvement of water supply and sanitation facilities on diarrhea and intestinal parasites: a Brazilian experience with children in two low-income urban communities

During the second half of 1986 the impact of the improvement of water supply and excreta disposal facilities on diarrheal diseases and intestinal parasitosis was studied in 254 children up to six years of age from two favelas (shanty towns) of Belo Horizonte, Brazil. The estimated incidence of diarrhea was 6.2 episodes/child year and the estimated period prevalence reached 31.0 episode days/ child/ year. The point prevalence of parasitosis was 70.7% (Ascaris lumbricoides: 55.4%, Trichuris trichiura: 19.6%, Giardia lamblia: 17.9%). The estimated prevalence of diarrhea decreased with improvement of water supply and sanitation facilities to 45% and 44% respectively, but no statistically significant impact was observed in the case of parasitosis. School education and weaning practice were found to be other important determinants of diarrhea.

A STR mutation in a heteropaternal twin case

A heteropaternal male twin case with two men being alleged fathers was investigated as requested by the Court. Up to 37 PCR-based polymorphic DNA systems were studied in this case which was complicated by a paternal ACTBP2 mutation detected in one twin. This is the first report on a STR mutation in a double paternity case where both biological fathers were indisputably identified. The STR systems enable the resolution of these complex genetic relationships even in a case where a mutation in one STR locus was encountered.

Experimental design methodologies for the identification of Michaelis-Menten type kinetics

The main objective of this work was to investigate the application of experimental design techniques for the identification of Michaelis-Menten kinetic parameters. More specifically, this study attempts to elucidate the relative advantages/disadvantages of employing complex experimental design techniques in relation to equidistant sampling when applied to different reactor operation modes. All studies were supported by simulation data of a generic enzymatic process that obeys to the Michaelis-Menten kinetic equation. Different aspects were investigated, such as the influence of the reactor operation mode (batch, fed-batch with pulse wise feeding and fed-batch with continuous feeding) and the experimental design optimality criteria on the effectiveness of kinetic parameters identification. The following experimental design optimality criteria were investigated: 1) minimization of the sum of the diagonal of the Fisher information matrix (FIM) inverse (A-criterion), 2) maximization of the determinant of the FIM (D-criterion), 3) maximization of the smallest eigenvalue of the FIM (E-criterion) and 4) minimization of the quotient between the largest and the smallest eigenvalue (modified E-criterion). The comparison and assessment of the different methodologies was made on the basis of the Cramér-Rao lower bounds (CRLB) error in respect to the parameters vmax and Km of the Michaelis-Menten kinetic equation. In what concerns the reactor operation mode, it was concluded that fed-batch (pulses) is better than batch operation for parameter identification. When the former operation mode is adopted, the vmax CRLB error is lowered by 18.6 % while the Km CRLB error is lowered by 26.4 % when compared to the batch operation mode. Regarding the optimality criteria, the best method was the A-criterion, with an average vmax CRLB of 6.34 % and 5.27 %, for batch and fed-batch (pulses), respectively, while presenting a Km’s CRLB of 25.1 % and 18.1 %, for batch and fed-batch (pulses), respectively. As a general conclusion of the present study, it can be stated that experimental design is justified if the starting parameters CRLB errors are inferior to 19.5 % (vmax) and 45% (Km), for batch processes, and inferior to 42 % and to 50% for fed-batch (pulses) process. Otherwise equidistant sampling is a more rational decision. This conclusion clearly supports that, for fed-batch operation, the use of experimental design is likely to largely improve the identification of Michaelis-Menten kinetic parameters.

Non-colorectal intestinal tract carcinomas in inflammatory bowel disease: results of the 3rd ECCO Pathogenesis Scientific Workshop (II)

Patients with inflammatory bowel diseases (IBD) have an excess risk of certain gastrointestinal cancers. Much work has focused on colon cancer in IBD patients, but comparatively less is known about other more rare cancers. The European Crohn's and Colitis Organization established a pathogenesis workshop to review what is known about these cancers and formulate proposals for future studies to address the most important knowledge gaps. This article reviews the current state of knowledge about small bowel adenocarcinoma, ileo-anal pouch and rectal cuff cancer, and anal/perianal fistula cancers in IBD patients.

Airborne fungi in the city of Porto Alegre, Rio Grande do Sul, Brazil

Knowledge of anemophilous fungi in a given city or region is important for the ecological diagnosis and specific treatment of allergic manifestations induced by inhaled allergens. In order to diagnose the presence of anemophilous fungi, several qualitative and quantitative techniques are used depending on the study place. This study of fungal air spores was performed with a Rotorod Sampler®, an equipment which samples the air through a plastic rod attached to an electric engine that makes it spin fast enough to collect the particles in the air. The samples were collected once a week during 24 hours using the standard cycle of the manufacturers. A total of 52 samples were obtained from April 2000 through March 2001. The results revealed prevalence of ascosporos (50.49%), Cladosporium (17.86%), Aspergillus/Penicillium (15.03%), basidiosporos (3.84%), rusts (3.82%), and Helminthosporium (2.49%), and a lesser frequency of Botrytis (1.22%), Alternaria (1.19%), smuts (0.90%), Curvularia (0.87%), Nigrospora (0.61%), and Fusarium (0.08%). Also, 1.59% of the spores detected here could not be identified by the systematic key used. More fungal spores were observed during the summer than during the autumn.

Caracterização metalúrgica e do tempo de vida em contactos eléctricos de relés

Dissertação para obtenção do Grau de Mestre em Engenharia de Materiais

Hepatology - A Clinical Textbook, Fifth Edition

Hepatology is an ever - changing field. The editors and authors of Hepatology − A Clinical Textbook have made every effort to provide information that is accurate and complete as of thedate of publication. However, in view of the rapid changes occurring in medical science, as well as the possibility of human error, this book may contain technical inaccuracies, typographical or other errors. Readers are advised to check the product information currently provided by the manufacturer of each drug to be administered to verify the recommen ded dose, the method and duration of administration, and contraindications. It is the responsibility of the treating physician who relies on experience and knowledge about the patient to determine dosages and the best treatment for the patient. The informa tion contained herein is provided "as is" and without warranty of any kind. The editors and Flying Publisher & Kamps disclaim responsibility for any errors or omissions or for results obtained from the use of information contained herein.

The Word Brain - A Short Guide to Fast Language Learning

How long does it take to learn another language? How many words do you need to learn? Are languages within the reach of everybody? Which teachers would you choose and which teachers should you avoid? These are some of the questions you ask yourself when you start learning a new language.The Word Brain provides the answers. If you have learned foreign languages in the past, consider reading it. If you or your children need to learn languages in the future, you must read it. What you will discover in two hours will change for ever the way you see languages and language learning. The principles of The Word Brain are timeless. Our children’s grandchildren will follow them when they discover the people of our planet.