Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

Não vício assintótico, consistência forte e uniformemente forte de estimadores do tipo núcleo para dados direcionais sobre uma esfera unitária k-dimensional

In this work we studied the asymptotic unbiasedness, the strong and the uniform strong consistencies of a class of kernel estimators fn as an estimator of the density function f taking values on a k-dimensional sphere

Influence of design parameters on linear induction motor end effect

In this paper, a factor referred to as k(f) for linear induction motor end effect analysis is presented. The mathematical model takes into account the longitudinal entry end effect. The entry end effect produces considerable distortion in magnetic field distribution. It is shown how this influence is derived from the machine-developed force that is calculated through the application of the I-D theory. The k(f) factor establishes the relationship between the longitudinal end effect and machine parameters, mainly the number of magnetic poles, secondary resistivity, and frequency.

Structural and biological characterization of three novel mastoparan peptides from the venom of the neotropical social wasp Protopolybia exigua (Saussure)

The venom of the Neotropical social wasp Protopolybia exigua(Saussure) was fractionated by RP-HPLC resulting in the elution of 20 fractions. The homogeneity of the preparations were checked out by using ESI-MS analysis and the fractions 15, 17 and 19 (eluted at the most hydrophobic conditions) were enough pure to be sequenced by Edman degradation chemistry, resulting in the following sequences:Protopolybia MPI I-N-W-L-K-L-G-K-K-V-S-A-I-L-NH2 Protopolybia-MP II I-N-W-K-A-I-I-E-A-A-K-Q-A-L-NH2 Protopolybia-MP III I-N-W-L-K-L-G-K-A-V-I-D-A-L-NH2All the peptides were manually synthesized on-solid phase and functionally characterized. Protopolybia-MP I is a hemolytic mastoparan, probably acting on mast cells by assembling in plasma membrane, resulting in pore formation; meanwhile, the peptides Protopolybia-MP II and -MP III were characterized as a non-hemolytic mast cell degranulator toxins, which apparently act by virtue of their binding to G-protein receptor, activating the mast cell degranulation. (C) 2004 Elsevier Ltd. All rights reserved.

Structural and biological characterization of two novel peptides from the venom of the neotropical social wasp Agelaia pallipes pallipes

The venom of the neotropical social wasp Agelaia pallipes pallipes was fractionated by RP-HPLC resulting in the elution of seven fractions; the last two were re-fractionated under RP-HPLC by using isocratic elution conditions and the purity of the fractions were confirmed by using ESI-MS analysis. Both fractions are constituted of peptide components, which were sequenced by Edman degradation chemistry, resulting in the following sequences:Protonectin I-L-G-T-I-L-G-L-L-K-G-L-NH2Agelaia-MP I-N-W-L-K-L-G-K-A-I-I-D-A-L-NH2Both peptides are manually synthesized on solid-phase and functionally characterized by using Wistar rats cells. Protonectin is a non-hemolytic chemotactic peptide for polymorphonucleated leukocytes (PMNL), presenting some mast cell degranulating activity and potent antimicrobial action both against Gram-positive and Gram-negative bacteria. Agelaia-MP was characterized as a hemolytic mast cell degranulator toxin, presenting a poor antimicrobial action and no chemotaxis for PMNL. (C) 2004 Elsevier Ltd. All rights reserved.

Predicting the potential distribution of the alien invasive American bullfrog (Lithobates catesbeianus) in Brazil

The non-native invasive anuran Lithobates catesbeianus is presently distributed in Brazil, especially in the Atlantic Rainforest biodiversity hotspot. Here, we use a maximum entropy ecological niche modeling algorithm (i) to model the North American native geographic distribution of this species and (ii) to project that model onto the whole of Brazil. After applying a threshold value that balances commission and omission errors, the projection results suggested high probabilities of occurrence mostly in southern and southeastern Brazil. We also present the first report on the species known distribution in Brazil, showing good agreement with model predictions. If the predictive map is interpreted as depicting invasiveness potential of L. catesbeianus, strategies to prevent further invasion in Brazil should be focused especially in the Atlantic Rainforest biodiversity hotspot.

Search for narrow resonances in dilepton mass spectra in pp collisions at root s=7 TeV CMS Collaboration

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for charge-asymmetric production of W ' bosons in t(t)over-bar + jet events from pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Measurement of the charge asymmetry in top-quark pair production in proton-proton collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for supersymmetry in pp collisions at 7 TeV in events with jets and missing transverse energy

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for heavy lepton partners of neutrinos in proton-proton collisions in the context of the type III seesaw mechanism

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for heavy long-lived charged particles in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for high-mass resonances decaying into tau-lepton pairs in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for heavy Majorana neutrinos in mu(+/-)mu(+/-) + jets and e(+/-)e(+/-) + jets events in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Search for neutral Higgs bosons decaying to tau pairs in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)