32 research outputs found

    MELISSA: System Description and Spectral Features of Pre- and Post-Midnight F-Region Echoes

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    Most of the low‐latitude ionospheric radar observations in South America come from the Jicamarca Radio Observatory, located in the western longitude sector (∌75°W). The deployment of the 30 MHz FAPESP‐Clemson‐INPE (FCI) coherent backscatter radar in the magnetic equatorial site of SĂŁo Luis, Brazil, in 2001 allowed observations to be made in the eastern sector (∌45°W). However, despite being operational for several years (2001–2012), FCI only made observations during daytime and pre‐midnight hours, with a few exceptions. Here, we describe an upgraded system that replaced the FCI radar and present results of full‐night F‐region observations. This radar is referred to as Measurements of Equatorial and Low‐latitude Ionospheric irregularities over SĂŁo LuĂ­s, South America (MELISSA), and made observations between March 2014 and December 2018. We present results of our analyses of pre‐ and post‐midnight F‐region echoes with focus on the spectral features of post‐midnight echoes and how they compare to spectra of echoes observed in the post‐sunset sector. The radar observations indicate that post‐midnight F‐region irregularities were generated locally and were not a result of “fossil” structures generated much earlier in time (in other longitude sectors) and that drifted into the radar field‐of‐view. This also includes cases where the echoes are weak and that would be associated with decaying equatorial spread F (ESF) structures. Collocated digisonde observations show modest but noticeable F‐region apparent uplifts prior to post‐midnight ESF events. We associate the equatorial uplifts with disturbed dynamo effects and with destabilizing F‐region conditions leading to ESF development

    Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

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    [EN] The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. Methods All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed. Most individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.- 183G>A and c.-514C>T were also present in 10/37 concordant patients. The variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.SIThis study received financial support from Fundo de Incentivo à Pesquisa e Eventos/Hospital de Clínicas de Porto Alegre (FIPE-HCPA) for research materials and publication fee. Post Graduate Program in Genetics and Molecular Biology (Universidade Federal do Rio Grande do Sul) funded the translation. ECN has a commercial affiliation (CTN Diagnósticos) which did not have any role or financial contribution to this research. TB have fellowship from the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Capes). FS had fellowship from the Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS). IVDS, MRSC and PASF have fellowships from the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). HB receives a research grant of Orphan Europe. The funders did no provide support in the form of salaries for any author, and did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section

    Predictors of cardiac involvement in idiopathic inflammatory myopathies

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    Copyright © 2023 Bandeira, Dourado, Melo, Martins, Fraga, Ferraro, Saraiva, Sousa, Parente, Soares, Correia, Almeida, Dinis, Pinto, Oliveira Pinheiro, Rato, BeirĂŁo, SamĂ”es, Santos, Mazeda, ChĂ­charo, Faria, Neto, Lourenço, Brites, Rodrigues, Silva-Dinis, Dias, AraĂșjo, Martins, Couto, Valido, Santos, Barreira, Fonseca and Campanilho-Marques. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Objectives: Idiopathic inflammatory myopathies (IIM) are a group of rare disorders that can affect the heart. This work aimed to find predictors of cardiac involvement in IIM. Methods: Multicenter, open cohort study, including patients registered in the IIM module of the Rheumatic Diseases Portuguese Register (Reuma.pt/Myositis) until January 2022. Patients without cardiac involvement information were excluded. Myo(peri)carditis, dilated cardiomyopathy, conduction abnormalities, and/or premature coronary artery disease were considered. Results: 230 patients were included, 163 (70.9%) of whom were females. Thirteen patients (5.7%) had cardiac involvement. Compared with IIM patients without cardiac involvement, these patients had a lower bilateral manual muscle testing score (MMT) at the peak of muscle weakness [108.0 ± 55.0 vs 147.5 ± 22.0, p=0.008] and more frequently had oesophageal [6/12 (50.0%) vs 33/207 (15.9%), p=0.009] and lung [10/13 (76.9%) vs 68/216 (31.5%), p=0.001] involvements. Anti-SRP antibodies were more commonly identified in patients with cardiac involvement [3/11 (27.3%) vs 9/174 (5.2%), p=0.026]. In the multivariate analysis, positivity for anti-SRP antibodies (OR 104.3, 95% CI: 2.5-4277.8, p=0.014) was a predictor of cardiac involvement, regardless of sex, ethnicity, age at diagnosis, and lung involvement. Sensitivity analysis confirmed these results. Conclusion: Anti-SRP antibodies were predictors of cardiac involvement in our cohort of IIM patients, irrespective of demographical characteristics and lung involvement. We suggest considering frequent screening for heart involvement in anti-SRP-positive IIM patients.info:eu-repo/semantics/publishedVersio

    Preterm Neonates with Respiratory Distress Syndrome: Ventilator-Induced Lung Injury and Oxidative Stress

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    Ventilator-induced lung injury is well recognized, and appropriate arterial saturation target is unknown, so gentle modes of ventilation and minimizing oxidative stress have been well studied. Our objective was to analyze any association between the oxygen levels at blood sampling and plasma levels of the interleukins IL-6, IL-1ÎČ, IL-10, and IL-8 and TNF-α in preterm newborns under mechanical ventilation (MV) in their first two days. Methods. Prospective cohort including neonates with severe respiratory distress. Blood samples were collected right before and 2 hours after invasive MV. For analysis purposes, newborns were separated according to oxygen requirement: low oxygen (≀30%) and high oxygen (>30%) groups. Interleukins were measured using a commercially available kit. Results. 20 neonates (gestational age 32.2 ± 3 weeks) were evaluated. Median O2 saturation levels pre-MV were not different in both oxygen groups. In the high oxygen group, IL-6, IL-8, and TNF-α plasma levels increased significantly after two hours under MV. Conclusions. Despite the small sample studied, data showed that there is a relationship between VILI, proinflammatory cytokines, and oxygen-induced lung injury, but a study considering oxidative marker measurements is needed. It seems that less oxygen may keep safer saturation targets playing a less harmful role

    Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations

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    Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability in serum enzyme activities and discrepancies with mutation analyses were probably due to inappropriate handling and storage of samples sent to the laboratory. Obtaining an appropriate control serum at the same time as that of the suspected child will undoubtedly decrease the false-positive rate (0.09%). Mutation analysis can be used to confirm the genotype of these children. The estimated incidence of biotinidase deficiency in Brazil is about 1 in 9,000, higher than in most other countries. Screening and treatment of biotinidase deficiency are effective and warranted. These results strongly suggest that biotinidase deficiency should be included in the newborn mass screening program of Brazil

    Physical and chemical changes in soil fertilized with poultry manure with and without chiseling

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    ABSTRACT Poultry manure and mechanical management may influence the distribution of nutrients in the soil profile. The objective was to evaluate physical and chemical changes in a soil with palisade grass ( Brachiaria brizantha cv. Marandu) fertilized with doses of poultry manure with and without use of soil chiseling, after 180 days of application. The design was a randomized blocks with four replicates, in a 5 x 2 factorial arrangement with five doses of manure (0, 1.073, 2.074, 4.148 and 6.222 Mg ha-1), with and without soil chiseling at 0.20 m. Soil chiseling caused physical changes with an increase of macroporosity in the layer of 0-0.2 m and reduction in soil density and increase in macroporosity and total porosity in the layer of 0.2-0.4 m. With manure doses, pH in the layer of 0-0.1 m showed quadratic fit with maximum value of 7.2. The increases in Ca and Zn in the layer of 0-0.1 m were, respectively, 0.61 cmolc dm-3 and 2.99 mg dm-3. In the interaction of Dose x Management, without soil chiseling, K showed a linear fit and increased 1.39 times; while in the interaction of Dose x Management, with soil chiseling in the layers of 0.1-0.2 and 0.2-0.4 m, P increased by 8.10 and 3.95 mg dm-3, respectively. In the contrast between the dose zero and manure dose, there was significance for pH, Ca, P and Zn in the layer of 0-0.1 m
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