Review of the scientific article: Fragile x syndrome and other pathologies associated with the fmr1 gene

O tema deste trabalho científico é a resenha do artigo científico denominado Síndrome X Frágil y Otras Patologías Asociadas al Gen FMR1, que aborda uma condição genética denominada Síndrome do Cromossomo X Frágil, ainda pouco divulgada no Brasil. Trata-se de uma pesquisa científica qualitativa, de natureza descritiva, fundamentada em pesquisas bibliográficas e em relatos pessoais (Gonçalves, 2015, p. 15).The theme of this scientific work is the review of the scientific article called “Síndrome X Frágil y Otras Patologías Asociadas al Gen FMR1”, which addresses a genetic condition called Fragile X Chromosome Syndrome, still little publicized in Brazil. This is qualitative scientific research, of descriptive nature, based on bibliographic research and personal reports (Gonçalves, 2015, p. 15)

Modulation of humoral immune response to oral BCG vaccination by Mycobacterium bovis BCG Moreau Rio de Janeiro (RDJ) in healthy adults

BACKGROUND: Oral administration of BCG was the route initially used by Calmette and Guérin, but was replaced by intradermal administration in virtually all countries after the Lubeck accident. However, Brazil continued to administer oral BCG Moreau RDJ, which was maintained until the mid-1970s when it was substituted by the intradermal route. Although BCG vaccination has been used in humans since 1921, little is known of the induced immune response. The aim of this study was to analyse immunological responses after oral vaccination with M. bovis BCG Moreau RDJ. METHODS: This study in healthy volunteers has measured cellular and humoral aspects of the immunological response to oral M. bovis BCG Moreau RDJ in Rio de Janeiro, Brazil. T-cell trafficking and Th(1 )and Th(2 )cytokine responses are described, as well as isotype-specific antibody production using novel techniques. RESULTS: Oral immunisation has no adverse effects. We have shown that there are cellular and humoral immunological responses after oral immunisation. Oral revaccination does not induce a positive skin test in responsive individuals and multiple booster orally was able to induce modulation in humoral immunological responses (switch from IgG to IgA) in previously immunised subjects and incapable of inducing tolerance. In contrast, the cellular immune response does not differ between vaccinated individuals with positive and negative skin test reactions. CONCLUSION: All subjects, including those who did not respond to the skin test at study commencement, were capable of mounting humoral and cellular immune response to the antigens tested

Petrology of Sítios Novos Batholith, Sergipano Orogenic System, Borborema Province, NE Brazil

O Batólito Sítios Novos (110 km2) é uma intrusão alongada na direção NE-SW, com idade de 631 ± 4 Ma, cuja forma concorda com a orientação regional, e se localiza na região sul do Domínio Poço Redondo, Sistema Orogênico Sergipano. Esse batólito é constituído de monzogranitos leucocráticos com textura alotriomórfica equigranular e inequigranular, e ocasionalmente por diques pegmatíticos. Enclaves máficos são raros. A região sul do batólito é afetada por zona de cisalhamento regional, e os monzogranitos adquirem estruturas milonítica e gnáissica. Oligoclásio e albita são os plagioclásios presentes nesses granitos, e a microclina ocasionalmente é pertítica. A biotita é o mineral máfico dominante e a sua composição indica afinidade com suítes orogênicas (cálcio-alcalina e peraluminosa). Zircão, titanita, magnetita, ilmenita, apatita, torita, allanita e monazita ocorrem como minerais acessórios. Bastanesita e barita ocupam frequentemente microfraturas nessas rochas. A geoquímica dos monzogranitos evidencia que são rochas fracionadas (SiO2 > 68%), peraluminosas a metaluminosas, e alocam-se em diagramas geoquímicos no campo dos granitos do Tipo I. Os espectros dos elementos terras raras apresentam fracionamento moderado (15 < LaN/YbN < 70), com anomalia negativa em Eu sugestivo de fracionamento de plagioclásio. Em diagramas multielementares, as amostras desse batólito apresentam vales pronunciados em Nb, P, Ba e Ti, e picos mais ou menos acentuados em Th, Pb e Zr. Essa assinatura geoquímica é característica de magmas orogênicos. A fonte provável para os monzonitos estudados é uma crosta de composição tonalítica. The Sítios Novos Batholith (110 km2) is an NE-SW elongated intrusion, with an age of 631 ± 4 Ma (which agrees with the regional orientation) and is located in the southern part of the Poço Redondo Domain, in the Sergipano Orogenic System. This batholith is constituted by leucocratic monzogranites with equigranular and unequigranular allotriomorphic texture, which occasionally present pegmatitic dikes. Mafic enclaves are rare. The batholith’s southern region is affected by the regional shear zone and the monzogranites developing milonitic and gneissic structures. Oligoclase and albite are the plagioclase present in these granites and the microcline is occasionally perthitic. Biotite is the dominant mafic mineral and its composition indicates affinity with orogenic suites (calcic-alkaline and peraluminous). Zircon, titanite, magnetite, ilmenite, apatite, thorite, allanite and monazite occur as accessory minerals. Bastnaesite and barite often occupy microfractures in these rocks. The monzogranites’ geochemistry shows that they are fractionated rocks (SiO2 > 68%), peraluminous to metaluminous and are allocated in geochemical diagrams in the field of I-type granites. The REE spectra present moderate fractionation (15 < LaN/YbN < 70), with negative anomaly in Eu, indicating plagioclase fractionation. In multielementary diagrams, the samples of this batholith have pronounced valleys in Nb, P, Ba and Ti, and more or less accentuated peaks in Th, Pb and Zr. This geochemical signature is characteristic of orogenic magmas. These monzogranites have as probable source the partial melting of tonalitic crust

Essential role of small bowel capsule endoscopy in reclassification of colonic inflammatory bowel disease type unclassified

AIM To evaluate the role of small bowel capsule endoscopy (SBCE) on the reclassification of colonic inflammatory bowel disease type unclassified (IBDU). METHODS We performed a multicenter, retrospective study including patients with IBDU undergoing SBCE, between 2002 and 2014. SBCE studies were reviewed and the inflammatory activity was evaluated by determining the Lewis score (LS). Inflammatory activity was considered significant and consistent with Crohn's disease (CD) when the LS >= 135. The definitive diagnosis during follow-up (minimum 12 mo following SBCE) was based on the combination of clinical, analytical, imaging, endoscopic and histological elements. RESULTS Thirty-six patients were included, 21 females (58%) with mean age at diagnosis of 33 +/- 13 (15-64) years. The mean follow-up time after the SBCE was 52 +/- 41 (12-156) mo. The SBCE revealed findings consistent with significant inflammatory activity in the small bowel (LS >= 135) in 9 patients (25%); in all of them the diagnosis of CD was confirmed during follow-up. In 27 patients (75%), the SBCE revealed no significant inflammatory activity (LS = 135 at SBCE had a sensitivity = 90%, specificity = 100%, positive predictive value = 100% and negative predictive value = 94% for the diagnosis of CD. CONCLUSION SBCE proved to be fundamental in the reclassification of patients with IBDU. Absence of significant inflammatory activity in the small intestine allowed exclusion of CD in 94% of cases.info:eu-repo/semantics/publishedVersio

Exploring the cross-sectional association between outdoor recreational facilities and leisure-time physical activity: the role of usage and residential self-selection.

BACKGROUND: The availability of outdoor recreational facilities is associated with increased leisure-time physical activity (PA). We investigated how much of this association is attributable to selection effects, and explored whether usage of recreational facilities was an explanatory mechanism. METHODS: We analysed data from 5199 participants in the SPOTLIGHT survey residing in five European urban regions. Adults completed a survey and a Google Street View-based virtual audit was conducted to objectively measure the availability of outdoor recreational facilities in the residential neighbourhood. We used negative binomial GEE models to examine the association between objective and subjective availability of outdoor recreational facilities and leisure-time PA, and explored whether this association was attenuated after adjustment for socioeconomic status and preference for neighbourhoods with recreational facilities (as indicators of self-selection). We examined whether reported use of recreational facilities was associated with leisure-time PA (as explanatory mechanism), and summarized the most important motivations for (not) using recreational facilities. RESULTS: Subjective - but not objective - availability of outdoor recreational facilities was associated with higher levels of total leisure-time PA. After adjustment for self-selection (which attenuated the association by 25%), we found a 25% difference in weekly minutes of total leisure-time PA between individuals with and without self-reported availability of outdoor recreational facilities. For our study population, this translates to about 28 min per week. Participants who reported outdoor recreational facilities to be present but indicated not to use them (RR = 1.19, 95% CI = 1.03;1.22), and those reporting outdoor recreational facilities to be present and to use them (RR = 1.33, 95% CI = 1.22, 1.45) had higher levels of total leisure-time PA than those who reported outdoor recreational facilities not to be present. Proximity to outdoor recreational facilities was the most important motivation for use. CONCLUSION: The modest attenuation in the association between availability of outdoor recreational facilities and self-reported leisure-time PA suggests that individuals' higher activity levels may be due more to the perceived availability of outdoor recreational facilities than to self-selection. The use of these facilities seemed to be an important underlying mechanism, and proximity was the main motivator for using recreational facilities

Educação transdisciplinar: Escolas Criativas e Transformadoras.

EDUF

Detecção de genes toxigênicos, susceptibilidade antimicrobiana e antagonismo in vitro de Staphylococcus spp. isolados de queijos artesanais

Staphylococcus spp. isolated from samples of Minas cheese traditionally manufactured following artisan procedures were identified using molecular techniques and further analyzed using PCR and specific primers for the detection of classic enterotoxins (SEA, SEB, SEC, SED, and SEE) and toxic shock syndrome toxin-1 (TSST-1). Specific sea, sec, sed, and see genes were identified using multiplex PCR, whereas seb and tst genes were detected by uniplex PCR. In vitro antagonism with Lactobacillus spp. was evaluated to assess antimicrobial susceptibility. Classic enterotoxins and TSST-1 genes were not detected. The antimicrobials sulfonamide, penicillin, ceftzadime, and oxacillin showed higher resistance rates in the antibiogram (100%, 80%, 60%, and 40%, respectively), whereas other antimicrobials were effective in percentages above 70%. Lactobacillus spp. were able to inhibit Staphylococcus spp. in vitro. Thus, our results indicated that the isolated Staphylococcus spp. were sensitive to the most common antimicrobials tested and were inhibited by Lactobacillus spp.Cepas de Staphylococcus spp. molecularmente identificadas foram submetidas à Reação em Cadeia da Polimerase (PCR), utilizando-se iniciadores específicos para a detecção de genes codificadores de enterotoxinas clássicas (SEA, SEB, SEC, SED, SEE) e da Toxina-1 da Síndrome do Choque Tóxico (TSST-1). Foi realizada PCR-Multiplex para detecção dos genes sea, sec, sed e see. Para seb e tst, foram realizadas PCR-Uniplex. Além disso, foi analisado o perfil de susceptibilidade das cepas a antimicrobianos de diferentes classes e foi verificado antagonismo in vitro entre Lactobacillus spp. e as cepas estudadas. Genes codificadores de enteroxinas clássicas, assim como de TSST-1, não foram encontrados. Em relação ao antibiograma, Sulfonamida, Penicilina, Ceftazidima e Oxacilina apresentaram os maiores percentuais de resistência (100, 80, 60 e 40%, respectivamente). Os demais antimicrobianos foram eficientes em percentuais acima de 70%. Lactobacillus spp. foram capazes de inibir o desenvolvimento in vitro de Staphylococcus spp. Conclui-se que as cepas estudadas não possuem genes codificadores da produção de enterotoxinas clássicas e TSST-1, são sensíveis à maioria dos antimicrobianos e são inibidos por bactérias do gênero Lactobacillus