299 research outputs found
A Rare Case of Mediastinal Mass: Thymoma and Thymic Tumor
Thymomas and thymic carcinomas are rare mediastinal neoplasms arising from thymic epithelial cells, and the presence of synchronous or metachronous primary thymic neoplasms in a single patient is an extremely rare event. Thymoma patients appear to have an inherent predisposition toward developing additional neoplasms. This additionally presents a diagnostic challenge, revealing the importance of multidisciplinary expertise to the management of these patients. This is a case report of a patient with a thymoma and thymic carcinoma, submitted to surgical resection and postoperative radiotherapyinfo:eu-repo/semantics/publishedVersio
Chromosomal organization of the 18S and 5S rRNAs and histone H3 genes in Scarabaeinae coleopterans: insights into the evolutionary dynamics of multigene families and heterochromatin
<p>Abstract</p> <p>Background</p> <p>Scarabaeinae beetles show a high level of macro-chromosomal variability, although the karyotypic organization of heterochromatin and multigene families (rDNAs and histone genes) is poorly understood in this group. To better understand the chromosomal organization and evolution in this group, we analyzed the karyotypes, heterochromatin distribution and chromosomal locations of the rRNAs and histone H3 genes in beetles belonging to eight tribes from the Scarabaeinae subfamily (Coleoptera, Scarabaeidae).</p> <p>Results</p> <p>The number of 18S rRNA gene (a member of the 45S rDNA unit) sites varied from one to 16 and were located on the autosomes, sex chromosomes or both, although two clusters were most common. Comparison of the 45S rDNA cluster number and the diploid numbers revealed a low correlation value. However, a comparison between the number of 45S rDNA sites per genome and the quantity of heterochromatin revealed (i) species presenting heterochromatin restricted to the centromeric/pericentromeric region that contained few rDNA sites and (ii) species with a high quantity of heterochromatin and a higher number of rDNA sites. In contrast to the high variability for heterochromatin and 45S rDNA cluster, the presence of two clusters (one bivalent cluster) co-located on autosomal chromosomes with the 5S rRNA and histone H3 genes was highly conserved.</p> <p>Conclusions</p> <p>Our results indicate that the variability of the 45S rDNA chromosomal clusters is not associated with macro-chromosomal rearrangements but are instead related to the spread of heterochromatin. The data obtained also indicate that both heterochromatin and the 45S rDNA loci could be constrained by similar evolutionary forces regulating spreading in the distinct Scarabaeinae subfamily lineages. For the 5S rRNA and the histone H3 genes, a similar chromosomal organization could be attributed to their association/co-localization in the Scarabaeinae karyotypes. These data provide evidence that different evolutionary forces act at the heterochromatin and the 45S rDNA loci compared to the 5S rRNA and histone H3 genes during the evolution of the Scarabainae karyotypes.</p
Clinical and Epidemiological Correlates of Task-Specific Dystonia in a Large Cohort of Brazilian Music Players
Musician's dystonia is a task-specific dystonia (TSD) worldwide disabling disorder, and most of the affected individuals may have severe difficulty to play their instrument. Many professional music players may have to quit working as a player. The objective of the present study was to evaluate the clinical characteristics and frequency of TSD in Brazilian music players and to promote awareness of this condition among musicians. We visited orchestras and music schools delivering lectures on TSD and about the scope of our survey. Musicians were invited to answer a questionnaire, and those with possible neurological dysfunction associated with musical performance were recorded by video while playing the instrument. We visited 51 orchestras and music schools in 19 Brazilian cities between March 2013 and March 2015. We collected 2,232 questionnaires, and 72 subjects with suspicion of dystonia were video recorded during specific tasks and evaluated regarding motor impairment. Forty-nine individuals (2.2%) were diagnosed as having TSD (mean age 36.4 years92% male). The instruments most associated with TSD were acoustic guitar (36.7%) and brass instruments (30.6%). We concluded that Brazilian TSD music players are mainly male, classical music professionals, around 30 years of age, with arms, hands, or oromandibular muscles affected. TSD is a neurological condition that can impair musical performance and should receive more attention from musicians, teachers, and health professionals.FAPESP (Sao Paulo State Research Foundation)CAPES (Brazil)Univ Fed Sao Paulo UNIFESP, Escola Paulista Med, Movement Disorders Unit, Dept Neurol & Neurosurg, Sao Paulo, BrazilHosp Israelita Albert Einstein, Sao Paulo, BrazilUniv Estadual Paulista UNESP, Inst Arte, Sao Paulo, BrazilUniv Fed Sao Paulo UNIFESP, Escola Paulista Med, Movement Disorders Unit, Dept Neurol & Neurosurg, Sao Paulo, BrazilFAPESP: 2012/10544-5CAPES: 1604/2015Web of Scienc
Chromosomal mapping of rDNAs and H3 histone sequences in the grasshopper rhammatocerus brasiliensis (acrididae, gomphocerinae): extensive chromosomal dispersion and co-localization of 5S rDNA/H3 histone clusters in the A complement and B chromosome
<p>Abstract</p> <p>Background</p> <p>Supernumerary B chromosomes occur in addition to standard karyotype and have been described in about 15% of eukaryotes, being the repetitive DNAs the major component of these chromosomes, including in some cases the presence of multigene families. To advance in the understanding of chromosomal organization of multigene families and B chromosome structure and evolution, the distribution of rRNA and H3 histone genes were analyzed in the standard karyotype and B chromosome of three populations of the grasshopper <it>Rhammatocerus brasiliensis</it>.</p> <p>Results</p> <p>The location of major rDNA was coincident with the previous analysis for this species. On the other hand, the 5S rDNA mapped in almost all chromosomes of the standard complement (except in the pair 11) and in the B chromosome, showing a distinct result from other populations previously analyzed. Besides the spreading of 5S rDNA in the genome of <it>R. brasiliensis </it>it was also observed multiple sites for H3 histone genes, being located in the same chromosomal regions of 5S rDNAs, including the presence of the H3 gene in the B chromosome.</p> <p>Conclusions</p> <p>Due to the intense spreading of 5S rRNA and H3 histone genes in the genome of <it>R. brasiliensis</it>, their chromosomal distribution was not informative in the clarification of the origin of B elements. Our results indicate a linked organization for the 5S rRNA and H3 histone multigene families investigated in <it>R. brasiliensis</it>, reinforcing previous data concerning the association of both genes in some insect groups. The present findings contribute to understanding the organization/evolution of multigene families in the insect genomes.</p
Um Laboratório Comum - Dois Centros em Rede
Integrados numa rede nacional de Centros para a promoção da cultura Ciêntifica, os Centros Ciência Viva de Tavira e do Algarve têm uma localização única dada a sua proximidade com a Ria Formosa. Sendo Centros de reduzidas dimensões, âmbos têm enorme potencial para a diversificação das actividades fora dos Centros. tirando partido do Laboratório Natural que é este ecossistema Único. As estratégias destes centros têm passado por não se limitarem a uma exploração das respectivas exposições interactivas, mas por uma crescente dinamização de iniciativas fora de portas, em que o trabalho de campo na Ria Formosa é considerado como uma ferramenta essencial para incentivar diferentes tipologias de público-alvo para a importância deste ecossistema.Assim, os dois centros têm concertado estratégias e abordagens de modo a melhor integrarem as iniciativas desenvolvidas no âmbito de alguns programas comuns. A recém criada "semana da Ria Formosa" é um excelente exemplo de colaboração entre os centros e também outras instituições; são apresentadas algumas das iniciativas que foram desenhadas numa base comum e colaborativa entre estas entidades. Esta estratégia comum permite realçar a missão geral dos centros Ciência Viva e ao mesmo revelar a complementaridade das duas instituições numa ótica de partilha de conhecimentos e de parceria.SFRH/BGCT/52704/2014 - REFORÇO DA INTERAÇÃO COM ENTIDADES EXTERNAS E RENOVAÇÃO DE ACTIVIDADES E DE CONTEÚDOS (SFRH/BGCT/52704/2014)info:eu-repo/semantics/publishedVersio
A Genetic Code Alteration Is a Phenotype Diversity Generator in the Human Pathogen Candida albicans
BACKGROUND: The discovery of genetic code alterations and expansions in both prokaryotes and eukaryotes abolished the hypothesis of a frozen and universal genetic code and exposed unanticipated flexibility in codon and amino acid assignments. It is now clear that codon identity alterations involve sense and non-sense codons and can occur in organisms with complex genomes and proteomes. However, the biological functions, the molecular mechanisms of evolution and the diversity of genetic code alterations remain largely unknown. In various species of the genus Candida, the leucine CUG codon is decoded as serine by a unique serine tRNA that contains a leucine 5'-CAG-3'anticodon (tRNA(CAG)(Ser)). We are using this codon identity redefinition as a model system to elucidate the evolution of genetic code alterations. METHODOLOGY/PRINCIPAL FINDINGS: We have reconstructed the early stages of the Candida genetic code alteration by engineering tRNAs that partially reverted the identity of serine CUG codons back to their standard leucine meaning. Such genetic code manipulation had profound cellular consequences as it exposed important morphological variation, altered gene expression, re-arranged the karyotype, increased cell-cell adhesion and secretion of hydrolytic enzymes. CONCLUSION/SIGNIFICANCE: Our study provides the first experimental evidence for an important role of genetic code alterations as generators of phenotypic diversity of high selective potential and supports the hypothesis that they speed up evolution of new phenotypes
International Law Association\u27s Guidelines on Intellectual Property and Private International Law ( Kyoto Guidelines ): Applicable Law
The chapter “Applicable Law” of the International Law Association’s Guidelines on Intellectual Property and Private International Law (“Kyoto Guidelines”) provides principles on the choice of law in international intellectual property matters. The Guidelines confirm the traditional principle of the lex loci protectionis for the existence, transferability, scope and infringement of intellectual property rights. The law applicable to the initial ownership of registered rights is governed by the lex loci protectionis whereas the law of the closest connection is applied to determine the ownership of copyright. For contracts, freedom of choice is acknowledged. With regard to ubiquitous or multi-state infringement and collective rights management in the field of copyright, the Guidelines suggest innovative solutions. Finally, the chapter contains a Guideline on the law applicable to the arbitrability of disputes
Phenotypic variability among pumpkin accessions in the Brazilian semiarid
The aim of this study was to estimate the phenotypic divergence among fourteen pumpkins accessions of the cucurbits Germplasm Active Bank of Embrapa Semiárido, in order to support breeding program to these species. Nine morphoagronomic descriptors were analyzed by the principal components and by UPGMA techniques. In the analysis of principal components, the formation of three contrasting clusters was observed, each one composed of two accessions. There occurred also the formation of one core group composed of five accessions, being the accessions called 683 and 684 collected in Bahia and the other in Maranhão. The most divergent accessions were 620, 624 and 748. The variables of the greatest contribution to the genetic divergence were diameter, weight and average length of the fruit. In the UPGMA analysis, obtained from the symmetric matrices generated by the Mahalanobis distance for the nine descriptors, there was the formation of one core group, composed of ten accessions, whose similarity was 45.71%, with geographically divergent accessions presenting the greatest similarity. Three accessions were not clustered with others. The study identified phenotypic variability for the analyzed characters and the absence of relationship between place of collection and phenotypic diversity
Mitral Annulus Disjunction: A Comprehensive Cardiovascular Magnetic Resonance Phenotype and Clinical Outcomes Study
Background:
Clinical importance of mitral annulus disjunction (MAD) is not well established.
//
Purpose:
Characterize a population of MAD all-comers diagnosed by cardiac magnetic resonance imaging (MRI).
//
Study Type:
Retrospective.
//
Population:
MAD confirmed in 222 patients, age of 49.2 ± 19.3 years, 126 (56.8%) males.
//
Field Strength/Sequence:
1.5 T and 3 T/steady-state free precession and inversion recovery.
//
Assessment:
Clinical history, outcomes, imaging, and arrhythmia data. MAD defined as a separation ≥2 mm between left ventricular myocardium and mitral annulus. Presence and pattern of late gadolinium enhancement (LGE) were analyzed. LGE in the papillary muscles and adjacent to MAD were identified as MAD related. Ventricular arrhythmias (VA) were grouped into non-sustained ventricular arrhythmias (NSVA) or sustained. Cardiovascular death assessed.
//
Statistical Tests:
Differences between baseline characteristics were compared. Univariate regression was used to investigate possible associations between ventricular arrhythmia and cardiovascular death with characteristics associated with the severity of MAD. A multivariable logistic regression included significant variables from the univariate analysis and was performed for MAD-related and global LGE.
//
Results:
MAD extent 5.0 ± 2.6 mm. MV annulus expanded during systole for MAD ≥6 mm. Systolic expansion associated with prolapse, billowing, and curling. LGE present in 82 patients (36.9%). Twenty-three patients (10.4%) showed MAD-related LGE by three different observers. No association of LGE with MAD extent (P = 0.545) noted. Follow-up 4.1 ± 2.4 years. No sustained VA observed. In univariable analysis, NSVA was more prevalent in patients with MAD ≥6 mm (33.3% vs. 9.9%), but this was attenuated on multivariate analysis (P = 0.054). The presence of NSVA was associated with global LGE but not MAD-related LGE in isolation (P = 0.750). Three patients died of cardiovascular causes (1.4%) and none had MAD-related LGE. None died of sudden cardiac arrest.
//
Conclusion:
In patients referred for cardiac MRI, mitral valve dysfunction was associated with MAD severity. Scar was not related to the extent of MAD, but associated with NSVA. The risk of sustained arrhythmias and cardiovascular death was low in this population.
//
Evidence Level:
4
//
Technical Efficacy:
Stage
Identification of a cytokine network sustaining neutrophil and Th17 activation in untreated early rheumatoid arthritis
© 2010 Cascão et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Introduction: Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease characterized by sustained
synovitis. Recently, several studies have proposed neutrophils and Th17 cells as key players in the onset and
perpetuation of this disease. The main goal of this work was to determine whether cytokines driving neutrophil
and Th17 activation are dysregulated in very early rheumatoid arthritis patients with less than 6 weeks of disease
duration and before treatment (VERA).
Methods: Cytokines related to neutrophil and Th17 activation were quantified in the serum of VERA and
established RA patients and compared with other very early arthritis (VEA) and healthy controls. Synovial fluid (SF)
from RA and osteoarthritis (OA) patients was also analyzed.
Results: VERA patients had increased serum levels of cytokines promoting Th17 polarization (IL-1b and IL-6), as
well as IL-8 and Th17-derived cytokines (IL-17A and IL-22) known to induce neutrophil-mediated inflammation. In
established RA this pattern is more evident within the SF. Early treatment with methotrexate or corticosteroids led
to clinical improvement but without an impact on the cytokine pattern.
Conclusions: VERA patients already display increased levels of cytokines related with Th17 polarization and
neutrophil recruitment and activation, a dysregulation also found in SF of established RA. 0 Thus, our data suggest
that a cytokine-milieu favoring Th17 and neutrophil activity is an early event in RA pathogenesis.This work was supported by a grant from Sociedade Portuguesa de Reumatologia/Schering-Plough 2005. RAM and RC were funded by Fundação para a Ciência e a Tecnologia (FCT) SFRH/BD/30247/2006 and
SFRH/BD/40513/2007, respectively. MMS-C was funded by Marie Curie Intra-European Fellowship PERG-2008-239422 and a EULAR Young Investigator Award
- …