Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms

INTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.

Trans-Synaptic Signaling by Activity-Dependent Cleavage of Neuroligin-1

Throughout the brain, patterns of activity in postsynaptic neurons influence the properties of synaptic inputs. Such feedback regulation is central to neural network stability that underlies proper information processing and feature representation in the central nervous system. At the cellular level, tight coupling of presynaptic and postsynaptic function is fundamental to neural computation and synaptic plasticity. The cohort of protein complexes at the pre and postsynaptic membrane allows for tight synapse-specific segregation and integration of diverse molecular and electrical signals.(...)

Trans Lineam/De Linea: Heidegger versus Jünger sobre o nihilismo

A finalidade da investigação é inquirir o modo como o problema do nihilismo se acha concebido no confronto entre Heidegger e Jünger. Para esse efeito, toma-se como ponto de partida dois textos: por um lado, o ensaio de Jünger intitulado Über die Linie, publicado em 1949, na Festschrift dedicada a Heidegger por ocasião dos seus sessenta anos; por outro lado, a “resposta” dada por Heidegger, em 1955, no seu contributo para uma Festschrift análoga, dedicada a Jünger – “resposta” originalmente publicada com o título Über »die Linie« (e posteriormente republicada com o título Zur Seinsfrage).

Trans-cultural aspects of social anxiety disorder and related conditions: a Brazilian case series and a review of international clinical studies

Cross-cultural studies have much to teach clinicians and researchers alike about psychopathology in general and about social anxiety disorder (SAD) in particular. Unfortunately, little is known about the degree and the mechanisms through which cultural environment may influence clinical manifestations of SAD. OBJECTIVE: Our objective was to identify culture-related clinical patterns in SAD and related disorders. METHODS: We described socio-demographic and clinical characteristics of a sample of 62 adult outpatients with SAD seen at a university clinic for anxiety and depressive disorders in Rio de Janeiro, Brazil, and compared them with those reported in clinical samples from North America, Europe, Asia and Oceania identified through a systematic review in Medline, PsychINFO, and LILACS. RESULTS: Our comparison of trans-cultural features of SAD lends partial support to Heimberg's (1997) contention that the majority of socio-demographic features and symptoms of this disorder are relatively independent of geographic and cultural differences. CONCLUSION: Patients with SAD were almost universally characterized by: 1) a predominance of males in clinical samples; 2) early onset of the disorder; 3) high educational attainment; and 4) great frequency of comorbidities.

Fechamento percutâneo de comunicação interatrial por punção trans-hepática

O fechamento percutâneo da comunicação interatrial (CIA) ostium secundum (OS) é procedimento bem estabelecido, sendo atualmente considerado o tratamento de escolha por seus bons resultados e sua baixa morbidade e mortalidade. O procedimento é realizado rotineiramente pela veia cava inferior (VCI). Ocasionalmente, entretanto, essa via de acesso não é possível por causa da obstrução ou da ausência congênita da VCI. Apresentaremos um caso de fechamento de CIA por punção trans-hepática decorrente de impossibilidade de uso da VCI.

Acesso trans-hepático para atriosseptostomia em neonato

Relatamos um caso de um neonato portador de transposição completa das grandes artérias que foi submetido a atrioseptostomia de Rashkind por acesso trans-hepático por interrupção congênita da veia cava inferior. Os aspectos técnicos do procedimento são discutidos.

A strange arthropod from the Mazon Creek of Illinois and the Trans Permo-Triassic Merostomoidea (Trilobitoidea) / [by] Frederick R. Schram --

v.20:no.6(1971)

Efeito da aplicação da vinhaça como fertilizante sobre os teores de ácido trans-aconítico de caldo de cana-de-açúcar (Saccharum spp)

Caldo de cana da variedade NA 56-79, em quatro estádios de maturidade (4, 6, 8 e 12 meses) fertilizada com vinhaça foi analisada para a determinação dos teores de potássio e ácido trans-aconítico. A fertilização com vinhaça provocou redução significativa nos teores de açúcares redutores totais e aumento nos teores de potássio e de ácido trans-aconítico. Uma correlação positiva significativa foi encontrada entre a produção de ácido trans-aconítico e o teor de potássio. O teor de ácido trans-aconítico foi reduzido com a maturidade das plantas.

A new and primitive early Oligocene horse from Trans-Pecos Texas / Paul O. McGrew, Dept. of Geology, The University of Wyoming.

v.10:no.15(1953)

The human genetic mutant cell repository : list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository / Institute for Medical Research, Camden, New Jersey.

4th ed.

Creating the Gorizia-Goriska euroregion: an European cross-border administrative model for integrated socio-economic development in the upper adriatic. Crossborder co-operation as a tool for trans-national integration and conflict resolution

Contribució al Seminari: "Les Euroregions: Experiències i aprenatges per a l’Euroregió Pirineus-Mediterrània", 15-16 de desembre de 2005

Species distribution models reveal apparent competitive and facilitative effects of a dominant species on the distribution of tundra plants

Abiotic factors are considered strong drivers of species distribution and assemblages. Yet these spatial patterns are also influenced by biotic interactions. Accounting for competitors or facilitators may improve both the fit and the predictive power of species distribution models (SDMs). We investigated the influence of a dominant species, Empetrum nigrum ssp. hermaphroditum, on the distribution of 34 subordinate species in the tundra of northern Norway. We related SDM parameters of those subordinate species to their functional traits and their co-occurrence patterns with E. hermaphroditum across three spatial scales. By combining both approaches, we sought to understand whether these species may be limited by competitive interactions and/or benefit from habitat conditions created by the dominant species. The model fit and predictive power increased for most species when the frequency of occurrence of E. hermaphroditum was included in the SDMs as a predictor. The largest increase was found for species that 1) co-occur most of the time with E. hermaphroditum, both at large (i.e. 750 m) and small spatial scale (i.e. 2 m) or co-occur with E. hermaphroditum at large scale but not at small scale and 2) have particularly low or high leaf dry matter content (LDMC). Species that do not co-occur with E. hermaphroditum at the smallest scale are generally palatable herbaceous species with low LDMC, thus showing a weak ability to tolerate resource depletion that is directly or indirectly induced by E. hermaphroditum. Species with high LDMC, showing a better aptitude to face resource depletion and grazing, are often found in the proximity of E. hermaphroditum. Our results are consistent with previous findings that both competition and facilitation structure plant distribution and assemblages in the Arctic tundra. The functional and co-occurrence approaches used were complementary and provided a deeper understanding of the observed patterns by refinement of the pool of potential direct and indirect ecological effects of E. hermaphroditum on the distribution of subordinate species. Our correlative study would benefit being complemented by experimental approaches.

Flippase (FLP) recombinase-mediated marker recycling in the dermatophyte Arthroderma vanbreuseghemii.

Biological processes can be elucidated by investigating complex networks of relevant factors and genes. However, this is not possible in species for which dominant selectable markers for genetic studies are unavailable. To overcome the limitation in selectable markers for the dermatophyte Arthroderma vanbreuseghemii (anamorph: Trichophyton mentagrophytes), we adapted the flippase (FLP) recombinase-recombination target (FRT) site-specific recombination system from the yeast Saccharomyces cerevisiae as a selectable marker recycling system for this fungus. Taking into account practical applicability, we designed FLP/FRT modules carrying two FRT sequences as well as the flp gene adapted to the pathogenic yeast Candida albicans (caflp) or a synthetic codon-optimized flp (avflp) gene with neomycin resistance (nptII) cassette for one-step marker excision. Both flp genes were under control of the Trichophyton rubrum copper-repressible promoter (PCTR4). Molecular analyses of resultant transformants showed that only the avflp-harbouring module was functional in A. vanbreuseghemii. Applying this system, we successfully produced the Ku80 recessive mutant strain devoid of any selectable markers. This strain was subsequently used as the recipient for sequential multiple disruptions of secreted metalloprotease (fungalysin) (MEP) or serine protease (SUB) genes, producing mutant strains with double MEP or triple SUB gene deletions. These results confirmed the feasibility of this system for broad-scale genetic manipulation of dermatophytes, advancing our understanding of functions and networks of individual genes in these fungi.