Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome

Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. Aortic aneurysm is its main complication, and along the dilation of the aorta root and its descending portion (60–100%), with secondary aortic insufficiency, it increases risk of acute aortic dissection and death. Coronary artery anomalies affect between 0.3% and 1.6% of the general population and are the second leading cause of sudden death in young adults, especially if the anomalous coronary passes through aorta and pulmonary artery. The anomalous origin of the left main coronary artery in the right Valsalva sinus has a prevalence of 0.02%–0.05% and is commonly related to other congenital cardiac anomalies, such as transposition of great vessels, coronary fistulas, bicuspid aortic valve, and tetralogy of Fallot. Its association with Marfan syndrome is not known, and there is no previous report in the literature. We describe here a case of a female with Marfan syndrome diagnosed with symptomatic anomalous origin of the left coronary artery in the right Valsalva sinus

Diagnóstico do meio físico da bacia hidrográfica do Rio do Imbé - RJ: aplicação de metodologia integrada como subsídio ao manejo de microbacias.

O Diagnóstico do Meio Físico da Bacia do Rio do Imbé (BHRI) integra os estudos que subsidiam o projeto Manejo Sustentável de Recursos Naturais em Microbacias do Norte-Noroeste Fluminense - SMH-SEAAPI/GEF (Global Enviroment Facility), cujo principal objetivo é apoiar produtores rurais de base familiar na autogestão dos recursos naturais, visando o desenvolvimento rural baseado em um modelo de agricultura socioambientalmente sustentável. A metodologia adotada partiu da integração da base cartográfica e dos dados digitais de mapeamentos temáticos do meio físico (clima, recursos hídricos, geologia, geomorfologia, solos e uso e ocupação das terras). Adotou-se no presente estudo a escala 1:250.000, compatível com a maioria dos dados secundários, que foram transformados para uma mesma projeção cartográfica e inseridos em uma base de dados digital. Inicialmente, foi realizada a síntese dos dados de solos e geomorfologia para a identificação e delimitação de unidades morfopedológicas. Em seguida, essas unidades foram agrupadas em seis zonas agroecológicas, considerando as potencialidades e fragilidades dos recursos naturais, os padrões de uso e o estado de degradação das terras. As zonas foram descritas e caracterizadas com base no conjunto de dados temáticos disponível e complementados com as informações levantadas em campo. O trabalho de campo foi orientado para verificação da diversidade dos aspectos físicos, das atividades antrópicas e dos problemas de degradação e conflitos relacionados ao uso dos recursos naturais. Foram considerados ainda o histórico socioeconômico e ambiental da região e a percepção dos atores locais com relação aos aspectos mencionados. Os resultados evidenciaram que a BHRI, face à singular interação dos aspectos fisiográficos e antrópicos, possui uma diversidade ambiental contrastante, apresentando diferentes potencialidades de uso e níveis de fragilidade. Contudo, o diagnóstico do meio físico, obtido segundo a metodologia apresentada, poderá constituir-se em um instrumento importante para subsidiar a tomada de decisões no que se refere às estratégias de planejamento, manejo adequado, monitoramento e avaliação dos recursos naturais, a serem adotados pelo projeto

IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia

IKZF1 deletion (ΔIKZF1) is an important predictor of relapse in both childhood and adult B-cell precursor acute lymphoblastic leukemia (B-ALL). Previously, we revealed that COBL is a hotspot for breakpoints in leukemia and could promote IKZF1 deletions. Through an international collaboration, we provide a detailed genetic and clinical picture of B-ALL with COBL rearrangements (COBL-r). Patients with B-ALL and IKZF1 deletion (n = 133) were included. IKZF1 ∆1-8 were associated with large alterations within chromosome 7: monosomy 7 (18%), isochromosome 7q (10%), 7p loss (19%), and interstitial deletions (53%). The latter included COBL-r, which were found in 12% of the IKZF1 ∆1-8 cohort. Patients with COBL-r are mostly classified as intermediate cytogenetic risk and frequently harbor ETV6, PAX5, CDKN2A/B deletions. Overall, 56% of breakpoints were located within COBL intron 5. Cryptic recombination signal sequence motifs were broadly distributed within the sequence of COBL, and no enrichment for the breakpoint cluster region was found. In summary, a diverse spectrum of alterations characterizes ΔIKZF1 and they also include deletion breakpoints within COBL. We confirmed that COBL is a hotspot associated with ΔIKZF1, but these rearrangements are not driven by RAG-mediated recombination

Diagnóstico do meio físico das bacias hidrográficas do entorno da Mata do Carvão (BHMC), Noroeste do Estado do Rio de Janeiro.

bitstream/CNPS-2010/14876/1/doc78-2005-mata-carvao.pd

Diagnóstico do meio físico da bacia hidrográfica do Rio Muriaé.

bitstream/CNPS-2010/14873/1/doc83-2005-diagnostico-muriae.pd

The lack of knowledge on acute stroke in Brazil: A cross-sectional study with children, adolescents, and adults from public schools

Objective: Stroke is an important cause of disability and death in adults worldwide. However, it is preventable in most cases and treatable as long as patients recognize it and reach capable medical facilities in time. This community-based study investigated students' stroke knowledge, Emergency Medical Services (EMS) activation, associated risk factors, warning signs and symptoms, and prior experience from different educational levels in the KIDS SAVE LIVES BRAZIL project. Methods: The authors conducted the survey with a structured questionnaire in 2019‒2020. Results: Students from the elementary-school (n = 1187, ∼13 y.o., prior experience: 14%, 51% women), high-school (n = 806, ∼17 y.o., prior experience: 13%, 47% women) and University (n = 1961, ∼22 y.o., prior experience: 9%, 66% women) completed the survey. Among the students, the awareness of stroke general knowledge, associated risk factors, and warning signs and symptoms varied between 42%‒66%. When stimulated, less than 52% of the students associated stroke with hypercholesterolemia, smoking, diabetes, and hypertension. When stimulated, 62%‒65% of students recognized arm weakness, facial drooping, and speech difficulty; only fewer identified acute headache (43%). Interestingly, 67% knew the EMS number; 81% wanted to have stroke education at school, and ∼75% wanted it mandatory. Women, higher education, and prior experience were associated with higher scores of knowing risk factors (OR = 1.28, 95% CI: 1.10‒1.48; OR = 2.12, 95% CI: 1.87‒2.40; OR = 1.46, 95% CI: 1.16‒1.83; respectively), and warning signs- symptoms (OR = 2.22, 95% CI: 1.89‒2.60; OR = 3.30, 95% CI: 2.81‒3.87; OR = 2.04, 95% CI: 1.58‒2.63; respectively). Conclusion: Having higher education, prior experience, and being a woman increases stroke-associated risk factors, and warning signs and symptoms identification. Schoolchildren and adolescents should be the main target population for stroke awareness

Long-Term Prospective Study of the Influence of Estrone Levels on Events in Postmenopausal Women with or at High Risk for Coronary Artery Disease

Background. The link between endogenous estrogen, coronary artery disease (CAD), and death in postmenopausal women is uncertain. We analyzed the association between death and blood levels of estrone in postmenopausal women with known coronary artery disease (CAD) or with a high-risk factor score for CAD. Methods. 251 postmenopausal women age 50–90 years not on estrogen therapy. Fasting blood for estrone and heart disease risk factors were collected at baseline. Women were grouped according to their estrone levels (<15 and ≥15 pg/mL). Fatal events were recorded after 5.8 ± 1.4 years of followup. Results. The Kaplan-Meier survival curve showed a significant trend (P = 0.039) of greater all-cause mortality in women with low estrone levels (<15 pg/mL). Cox multivariate regression analysis model adjusted for body mass index, diabetes, dyslipidemia, family history, and estrone showed estrone (OR = 0.45; P = 0.038) as the only independent variable for all-cause mortality. Multivariate regression model adjusted for age, body mass index, hypertension, diabetes, dyslipidemia, family history, and estrone showed that only age (OR = 1.06; P = 0.017) was an independent predictor of all-cause mortality. Conclusions. Postmenopausal women with known CAD or with a high-risk factor score for CAD and low estrone levels (<15 pg/mL) had increased all-cause mortality

A High Density Integrated Genetic Linkage Map of Soybean and the Development of a 1536 Universal Soy Linkage Panel for Quantitative Trait Locus Mapping

Single nucleotide polymorphisms (SNPs) are the marker of choice for many researchers due to their abundance and the high-throughput methods available for their multiplex analysis. Only recently have SNP markers been available to researchers in soybean [Glycine max (L.) Merr.] with the release of the third version of the consensus genetic linkage map that added 1141 SNP markers to the map. Our objectives were to add 2500 additional SNP markers to the soybean integrated map and select a set of 1536 SNPs to create a universal linkage panel for high-throughput soybean quantitative trait locus (QTL) mapping. The GoldenGate assay is one high-throughput analysis method capable of genotyping 1536 SNPs in 192 DNA samples over a 3-d period. We designed GoldenGate assays for 3456 SNPs (2956 new plus 500 previously mapped) which were used to screen three recombinant inbred line populations and diverse germplasm. A total of 3000 workable assays were obtained which added about 2500 new SNP markers to create a fourth version of the soybean integrated linkage map. To create a “Universal Soy Linkage Panel” (USLP 1.0) of 1536 SNP loci, SNPs were selected based on even distribution throughout each of the 20 consensus linkage groups and to have a broad range of allele frequencies in diverse germplasm. The 1536 USLP 1.0 will be able to quickly create a comprehensive genetic map in most QTL mapping populations and thus will serve as a useful tool for high-throughput QTL mapping

Identification and quantification of microplastics in wastewater using focal plane array-based reflectance micro-FT-IR imaging

Microplastics (<5 mm) have been documented in environmental samples on a global scale. While these pollutants may enter aquatic environments via wastewater treatment facilities, the abundance of microplastics in these matrices has not been investigated. Although efficient methods for the analysis of microplastics in sediment samples and marine organisms have been published, no methods have been developed for detecting these pollutants within organic-rich wastewater samples. In addition, there is no standardized method for analyzing microplastics isolated from environmental samples. In many cases, part of the identification protocol relies on visual selection before analysis, which is open to bias. In order to address this, a new method for the analysis of microplastics in wastewater was developed. A pretreatment step using 30% hydrogen peroxide (H2O2) was employed to remove biogenic material, and focal plane array (FPA)-based reflectance micro-Fourier-transform (FT-IR) imaging was shown to successfully image and identify different microplastic types (polyethylene, polypropylene, nylon-6, polyvinyl chloride, polystyrene). Microplastic-spiked wastewater samples were used to validate the methodology, resulting in a robust protocol which was nonselective and reproducible (the overall success identification rate was 98.33%). The use of FPA-based micro-FT-IR spectroscopy also provides a considerable reduction in analysis time compared with previous methods, since samples that could take several days to be mapped using a single-element detector can now be imaged in less than 9 h (circular filter with a diameter of 47 mm). This method for identifying and quantifying microplastics in wastewater is likely to provide an essential tool for further research into the pathways by which microplastics enter the environment.This work is funded by a NERC (Natural Environment Research Council) CASE studentship (NE/K007521/1) with contribution from industrial partner Fera Science Ltd., United Kingdom. The authors would like to thank Peter Vale, from Severn Trent Water Ltd, for providing access to and additionally Ashley Howkins (Brunel University London) for providing travel and assistance with the sampling of the Severn Trent wastewater treatment plant in Derbyshire, UK. We are grateful to Emma Bradley and Chris Sinclair for providing helpful suggestions for our research