A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.Conclusion: This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

Diminuição do teor de óxido de crômio (III) usado como marcador externo

A sensibilidade do método espectrofotométrico da s-difenilcarbazida de determinação do crômio permite que esse metal possa ser determinado em teores e em massas de amostras tão pequenas que as concentrações atualmente usadas de óxido de crômio (III) como marcador externo em ensaios biológicos poderiam ser drasticamente diminuídas. Utilizando-se do piauçu (Leporinus macrocephalus) para um estudo sobre o coeficiente de digestibilidade aparente (CDA) da fração protéica, seis níveis de óxido de crômio (III) - 0,01% - 0,02% - 0,03% - 0,05% - 0,1% e 0,2% - foram incorporados em dietas isoprotéica e isoenergética, objetivando-se verificar se o cálculo do CDA seria afetado pela variação do teor do marcador. Os seis tratamentos foram dispostos em um delineamento em blocos inteiramente casualisados, sendo as fezes coletadas durante 16 dias. Verificou-se que os resultados do coeficiente de digestibilidade aparente da fração protéica não apresentaram diferenças estatísticas significativas devidas aos teores incorporados do marcador à ração e aos dias de coleta. Conseqüentemente, e em experimentos dessa natureza, nada impede que seja reduzido o teor de óxido de crômio (III) ao menos até 0,01%: além da economia relativa ao consumo do mesmo e da facilidade na manipulação de menor quantidade de amostras de fezes, o método espectrofotométrico da s-difenilcarbazida permite dosar esse nível (e até menor do que 0,01%) de modo simples e rápido, com precisão e exatidão.

The use of transitional implants to support provisional prostheses during the healing phase: a literature review

Objective: Transitional implants are indicated for cases in which immediate loading is counter-indicated because a healing period is necessary for osseointegration of the definitive implants. These provisional implants were developed to support an implant-supported fixed prosthesis or overdenture to provide retention, stability, and support. The aim of this article was to conduct a literature review on transitional implants to highlight the characteristics of the transitional implants and their advantages, indications, and contraindications, including the level of osseointegration of such implants according to the functional period. Method and Materials: The present literature review was based on the OldMedline and Medline databases from 1999 to 2010 using the key words "transitional implants" and "temporary implants." Fourteen articles were found: 11 clinical studies or techniques and three histologic and histomorphometric studies. Results: The transitional immediate prostheses were worn by completely and partially edentulous patients. Advantages of transitional implants include complete denture retention, stability, and support; maintenance of chewing, phonetics, and patient comfort; protection of bone grafts; vertical stop during healing period; easy and fast surgical and prosthetic procedures; lower cost in comparison to the definitive implant; and reestablishment of esthetics. The success of transitional implants as conservative treatment for conventional immediate loading is a reality if correctly indicated. Conclusion: Transitional implants are a provisional treatment alternative for completely and partially edentulous patients. However, additional studies are required to evaluate the level of remodeling and repair of the transitional implants under loading. (Quintessence Int 2011; 42: 19-24)

Modelling the dynamics of dengue real epidemics

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

Desenvolvimento das gônadas de Dermatobia hominis (Diptera: Cuterebridae)

O trabalho descreve o desenvolvimento das gônadas do berne (D. hominis) durante o período pupal. As pupas desenvolvidas de larvas com peso superior a 650 mg, deram imagos fêmeas, enquanto que as desenvolvidas daquelas pesando entre 500 e 650 mg deram macho, tendo havido um erro ao redor de 5%. Até o oitavo dia de pupação os testículos crescem mais que os ovários; a partir daí diminui o desenvolvimento, parando de crescer entre o vigésimo e vigésimo quinto dias. A espermatogênese inicia por volta do sétimo dia de pupa quando é grande o número de espermatócitos. No décimo dia alguns testículos apresentam considerável número de espermátides e os espermatozóides começam a aparecer por volta do vigésimo dia. A espermiogênese desenvolve-se sem interrupção e ao final da pupação quase toda loja testicular está repleta de espermatózóides. Os machos começam a nascer dois dias antes das fêmeas. Nessas, os ovaríolos aparecem formados por volta do oitavo dia de pupa; os folículos se individualizam por volta do vigésimo dia de pupa onde se distingue os trofócitos com núcleos politênicos e citoplasmas bem basófilos, enquanto o ovócito tem citoplasma mais acidófilo e núcleo com cromatina bastante frouxa. A vitelogênese tem início ao redor do vigésimo quinto dia de pupa e se completa ao nascimento da imago. A ligação das gônadas com suas respectivas estruturas somáticas acontece ao redor do décimo terceiro dia de pupação.

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Post-Embryonic Development of Larvae of the Weaver Ant Camponotus textor (Hymenoptera: Formicidae)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Caminho da fé: reflexões sobre lazer e ambiência

This study, of qualitative nature, it aimed to investigate attitudes capable to foment pro-environmental behaviour, during one walked. The "Caminho da Fe" was chosen, with 425 km-itinerary trail between Tamba and Aparecida/SP, which attracts tourists, physical activities performers and religious persons. After a literature review on the thematic one, was made an exploratory research, with a random sample, of seven adults, of both sexes, using a mixed questionnaire and "Thompson e Barton's Scale of Ecocentrism and Anthropocentrism", applied in the stop places, or three times: at the beginning, in the middle of the way and at the end of the itinerary. The qualitative analysis was made by the use of "Thematic Content Analysis", with results also presented in a percentile way, to illustrate. As conclusion, it is inferred that, even the stimulation has ceased with the ending of the hike, the intensity, amount and quality of the experience had stimulated reflection processes, associated to variations on physical and social environmental conditions, the predispose to the dialogue and the symbolic identification, at which, had collaborated so that the participants had been able to perceive possibilities of conduction and transitions of values and new senses for their lives.

OBSTACLE STEPPING and BODY SCALE MODULATING PARAMETERS

The purpose of this study was to investigate gait spatial parameters at the point of departure, with obstacle heights adjusted to individual body scale. Undergraduate student volunteers (M age=22.4 yr., SD=2.1; 6 women, 1 man) were asked to step once, then cross over an obstacle and stop. This behavior was video recorded to extract kinematic data. The obstacle heights corresponded to high (knee-height) and low obstacles (half the knee-height). Points of departure corresponded to far (length of the lower limb) and close (half the length of the lower limb). The close point of departure influenced the trailing foot's placement ahead of the obstacle as well as step length. The high obstacle influenced the trailing foot's toe clearance. An interaction between factors was observed for leading foot toe clearance. Results indicate that body scale affected the participants' locomotor behavior during the obstacle-avoidance task.

Edge detection and noise removal by use of a partial differential equation with automatic selection of parameters

This work deals with noise removal by the use of an edge preserving method whose parameters are automatically estimated, for any application, by simply providing information about the standard deviation noise level we wish to eliminate. The desired noiseless image u(x), in a Partial Differential Equation based model, can be viewed as the solution of an evolutionary differential equation u t(x) = F(u xx, u x, u, x, t) which means that the true solution will be reached when t ® ¥. In practical applications we should stop the time ''t'' at some moment during this evolutionary process. This work presents a sufficient condition, related to time t and to the standard deviation s of the noise we desire to remove, which gives a constant T such that u(x, T) is a good approximation of u(x). The approach here focused on edge preservation during the noise elimination process as its main characteristic. The balance between edge points and interior points is carried out by a function g which depends on the initial noisy image u(x, t0), the standard deviation of the noise we want to eliminate and a constant k. The k parameter estimation is also presented in this work therefore making, the proposed model automatic. The model's feasibility and the choice of the optimal time scale is evident through out the various experimental results.

Caracterização da região 3'-terminal do genoma de um isolado brasileiro do Southern bean mosaic virus

O presente trabalho caracteriza a região 3'-terminal do genoma de um isolado do Southern bean mosaic virus encontrado no Estado de São Paulo (SBMV-SP). O RNA foi extraído de partículas virais purificadas e submetido a RT-PCR usando oligonucleotídeos desenhados para amplificar 972 nt da região 3'-terminal do RNA viral. Foi obtido fragmento de tamanho esperado que inclui o gene da proteína capsidial e a região 3'-terminal não codificadora. O gene da proteína capsidial (ORF4) contém 801 nucleotídeos, incluindo-se o códon de terminação UGA, com seqüência deduzida de 266 aminoácidos e massa molecular estimada de 28.800 Da. Sessenta e um aminoácidos terminais da ORF2 estão sobrepostos na ORF4. O sinal de localização nuclear, encontrado dentro do Domínio R na região 5'-terminal da ORF4 de alguns sobemovírus, não foi identificado no SBMV-SP. Esse dado pode explicar a ausência de partículas virais do SBMV-SP no núcleo celular. A seqüência do SBMV-SP apresentou identidade de nucleotídeos e aminoácidos de, respectivamente, 91% e 93% com o isolado Arkansas (SBMV-ARK) descrito nos EUA. Os resultados obtidos indicam que o SBMV-SP e o SBMV-ARK são isolados muito proximamente relacionados.

Strangeness data with light projectiles from a hydrodynamical point of view

The usual particle emission scenario used in hydrodynamics presupposes that particles instantaneously stop interacting (freeze-out) once they reach some three-dimensional surface. Another formalism has recently been developed where particle emission occurs continuously during the whole expansion of thermalized matter. Here we compare both mechanisms in a simplified hydrodynamical framework and show that they lead to a drastically different interpretation of data.

Search for stopped gluinos from p(p)over-bar collisions at root s=1.96 TeV

Long-lived, heavy particles are predicted in a number of models beyond the standard model of particle physics. We present the first direct search for such particles' decays, occurring up to 100 h after their production and not synchronized with an accelerator bunch crossing. We apply the analysis to the gluino (g), predicted in split supersymmetry, which after hadronization can become charged and lose enough momentum through ionization to come to rest in dense particle detectors. Approximately 410 pb(-1) of p (p) over bar collisions at root s = 1.96 TeV collected with the D0 detector during Run II of the Fermilab Tevatron collider are analyzed in search of such stopped gluinos decaying into a gluon and a neutralino ((chi) over tilde (0)(1)). Limits are placed on the (gluino cross section) x (probability to stop) x [BR((g) over tilde -> g (chi) over tilde (0)(1))] as a function of the gluino and (chi) over tilde (0)(1) masses, for gluino lifetimes from 30 mu s-100 h.

Search for Stopped Gluinos in pp Collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)