Abstract Introduction: Sickle cell anemia (SCA) is a Mendelian disorder with a heterogeneous clinical course. The reasons for this phenotypic diversity are not entirely established, but it is known that high fetal hemoglobin levels lead to a milder course of the disease. Additionally, genetic variants in the intergenic region HBS1L-MYB promote high levels of fetal hemoglobin into adulthood. Objective: In the present study, we investigated the HMIP1 C-839A (rs9376092) polymorphism, located at the HBS1L-MYB intergenic region block 1, in SCA patients. Method: We analyzed 299 SCA patients followed in two reference centers in Brazil. The HMIP1 C-839A (rs9376092) genotypes were determined by allele specific polymerase chain reactions. Clinical and laboratory data were obtained from patient interviews and medical records. Results: The median fetal hemoglobin levels were higher in patients with the HMIP1 C-839A (rs9376092) AA genotype (CC = 6.4%, CA = 5.6% and AA = 8.6%), but this difference did not reach significance (p = 0.194). No association between HMIP1 C-839A (rs9376092) genotypes and other clinical and laboratorial features was detected (p > 0.05). Conclusion: In summary, our data could not support the previously related association between the HMIP1 C-893A (rs9376092) polymorphism and differential fetal hemoglobin levels.

Abstract: In many agricultural crops, the number of parents used in cross breeding make it difficult to obtain all possible hybrids in diallels. Therefore, using maize as a model plant and based on traits with high and low heritabilities, the aim of the present study was to quantify the correlation estimates of the general combining ability (GCA) and specific combining ability (SCA) between a complete diallel and a circulant diallel, with and without the inclusion of parents. For the high heritability trait, the GCA estimates can be obtained with low s values, whereas for the SCA estimates, s values close to half the number of parents should be used. For the low heritability trait, information from parents must be used to obtain the SCA estimates. For the GCA estimates, considering the stabilization of r above 0.70 for s=7, s values greater than half the number of parents must be used in the circulant models.

Abstract Background: Acute coronary syndrome (ACS) is a cardiovascular disease caused by obstruction of coronary arteries by atheromatous plaque. Susceptibility to this disease may be related to genetic variations, such as single nucleotide polymorphisms (SNPs). Objective: In this study, we evaluated the relationship between SNPs in IL8 (rs4073; -251 A/T) and IL16 (rs11556218; T/G) genes and SCA in a Brazilian population. Materials and Methods: A sample of 200 patients with ACS and 50 non-ACS patients hospitalized at the Real Hospital Português, Recife - PE, Brazil, and 220 blood donors (donors) was used. Genotyping was carried out by polymerase chain reaction, and DNA sequencing. Statistical analyzes were performed using the Williams G, Chi-square and Kruskal Wallis tests, using the BioEstat 5.0 program, and the data with a value of p < 0.05 were considered significant. Results: In the IL8 gene, the AT genotype was the most frequent (p > 0.05) in all three groups. In the IL16 gene, genotypic distributions were different between patients with ACS and the donor group (p = 0.002), with the most frequent G allele in the second group (p = 0.0052). The IL-16 cytokine was higher in donors than in patients with ACS (p = 0.04) and the G (TG + GG) allele had higher values of this cytokine (p = 0.01). Conclusions: The results demonstrate the important role of the rs11556218 SNP in IL16 gene in SCA, evidencing that the G allele may be associated with a decreased risk of the disease.

Resumo Fundamento: Estudos pequenos têm relacionado níveis mais elevados de hormônio tireoestimulante (TSH) a pior prognóstico em pacientes com síndrome coronariana aguda (SCA). Tal relação, no entanto, permanece incerta. Objetivo: Analisar os desfechos de pacientes com SCA, relacionando-os aos níveis de TSH medidos no setor de emergência. Métodos: Estudo retrospectivo observacional incluindo 505 pacientes com SCA (446 no grupo I: TSH ± 4 mUI/L; 59 no grupo II: TSH > 4 mUI/L) entre maio de 2010 e maio de 2014. Dados sobre comorbidades e medicamentos usados foram obtidos. O desfecho primário foi mortalidade intra-hospitalar por todas as causas. O desfecho secundário incluiu eventos combinados (morte, angina instável não fatal ou infarto do miocárdio, choque cardiogênico, sangramento e acidente vascular encefálico). A comparação entre grupos foi realizada através de ANOVA de uma via e teste do qui-quadrado. A análise multivariada foi realizada por regressão logística, adotando-se o nível de significância de p < 0,05. Resultados: Diferenças significativas foram observadas entre os grupos I e II relacionadas ao uso de enoxaparina (75,2% vs. 57,63%; p = 0,02) e estatinas (84,08% vs. 71,19%; p < 0,0001), acidente vascular encefálico prévio (5,83% vs. 15,25%; p = 0,007), eventos combinados (14,80% vs. 27,12%, OR = 3,05; p = 0,004), choque cardiogênico (4,77% vs. 6,05%, OR = 4,77; p = 0,02) e sangramento (12,09% vs. 15,25%, OR = 3,36; p = 0,012). Conclusão: Em pacientes com SCA e TSH > 4 mUI/L à admissão hospitalar, observou-se pior prognóstico associado à maior incidência de eventos combinados intra-hospitalares, choque cardiogênico e sangramentos.

Abstract Background: Some small studies have related higher levels of thyrotropin (TSH) to potentially worse prognosis in acute coronary syndromes. However, this relationship remains uncertain. Objective: To analyze the outcomes of patients with acute coronary syndromes in relation to the value of TSH at admission. Methods: Observational and retrospective study with 505 patients (446 in group I [TSH ≤ 4 mIU/L] and 59 in group II [TSH > 4 mIU/L]) with acute coronary syndromes between May 2010 and May 2014. We obtained data about comorbidities and the medications used at the hospital. The primary endpoint was in-hospital all-cause death. The secondary endpoint included combined events (death, non-fatal unstable angina or myocardial infarction, cardiogenic shock, bleeding and stroke). Comparisons between groups were made by one-way ANOVA and chi-square test. Multivariate analysis was determined by logistic regression. Analyses were considered significant when p < 0.05. Results: Significant differences between groups I and II were observed regarding the use of enoxaparin (75.2% vs. 57.63%, p = 0.02) and statins (84.08% vs. 71.19%, p < 0.0001), previous stroke (5.83% vs. 15.25%, p = 0.007), combined events (14.80% vs. 27.12%, OR = 3.05, p = 0.004), cardiogenic shock (4.77% vs. 6.05%, OR = 4.77, p = 0.02) and bleeding (12.09% vs. 15.25%, OR = 3.36, p = 0.012). Conclusions: In patients with acute coronary syndromes and TSH > 4 mIU/L at admission, worse prognosis was observed, with higher incidences of in-hospital combined events, cardiogenic shock and bleeding.

Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.

Fundamento:Síndrome coronariana aguda (SCA) é definida como um “grupo de sintomas clínicos compatíveis com isquemia miocárdica aguda”, representando a principal causa de óbito no mundo, com elevado impacto clínico e financeiro. Nesse sentido, o desenvolvimento de estudos econômicos que avaliem os custos despendidos no tratamento da SCA deve ser considerado.Objetivo:Avaliar custos e tempo de internação hospitalar entre grupos de pacientes que trataram SCA, submetidos a procedimentos de angioplastia com ou sem implante de stent (stent+ / stent-), revascularização (Revasc) e tratados apenas clinicamente (Clínico), sob a perspectiva do sistema de saúde suplementar (SSS) brasileiro.Métodos:Realizou-se uma análise retrospectiva de contas médicas de beneficiários de planos de saúde considerando dados de custos de internação e tempo de permanência hospitalar para o manejo de pacientes submetidos a diferentes tipos de tratamento para SCA, no período entre 1/2010 e 6/2012.Resultados:Os custos médios por paciente foram de R$ 18.261,77, R$ 30.611,07, R$ 37.454,94 e R$ 40.883,37 nos grupos Clínico, stent-, stent+ e Revasc, respectivamente. Os custos médios por dia de internação foram de R$ 1.987,03, R$ 4.024,72, R$ 6.033,40 e R$ 2.663,82, respectivamente. Os tempos médios de internação foram de 9,19 dias, 7,61 dias, 6,19 dias e 15,20 dias nesses mesmos grupos. As diferenças foram estatisticamente significativas entre todos os grupos, exceto Clínico e stent- e entre os grupos stent + e Revasc, para a análise de custos.Conclusão:O custo hospitalar da SCA é elevado no SSS brasileiro e significativamente mais alto quando há a necessidade da realização de procedimentos intervencionistas.

AbstractBackground:Acute coronary syndrome (ACS) is defined as a “group of clinical symptoms compatible with acute myocardial ischemia”, representing the leading cause of death worldwide, with a high clinical and financial impact. In this sense, the development of economic studies assessing the costs related to the treatment of ACS should be considered.Objective:To evaluate costs and length of hospital stay between groups of patients treated for ACS undergoing angioplasty with or without stent implantation (stent+ / stent-), coronary artery bypass surgery (CABG) and treated only clinically (Clinical) from the perspective of the Brazilian Supplementary Health System (SHS).Methods:A retrospective analysis of medical claims of beneficiaries of health plans was performed considering hospitalization costs and length of hospital stay for management of patients undergoing different types of treatment for ACS, between Jan/2010 and Jun/2012.Results:The average costs per patient were R$ 18,261.77, R$ 30,611.07, R$ 37,454.94 and R$ 40,883.37 in the following groups: Clinical, stent-, stent+ and CABG, respectively. The average costs per day of hospitalization were R$ 1,987.03, R$ 4,024.72, R$ 6,033.40 and R$ 2,663.82, respectively. The average results for length of stay were 9.19 days, 7.61 days, 6.19 days and 15.20 days in these same groups. The differences were significant between all groups except Clinical and stent- and between stent + and CABG groups for cost analysis.Conclusion:Hospitalization costs of SCA are high in the Brazilian SHS, being significantly higher when interventional procedures are required.

A hidroxiuréia (HU) constitui o avanço mais importante no tratamento da anemia falciforme (AF) por prevenir complicações e aumentar a qualidade de vida dos pacientes. Entretanto, alguns aspectos do tratamento com HU permanecem obscuros, incluindo a sua ação e potencial toxicidade em outras células sanguíneas, tais como neutrófilos. Este estudo utilizou a mensuração da lactato desidrogenase (LDH) e do metil tiazoltetrazólio (MTT) e o ensaio do cometa para investigar a citotoxicidade e índice de dano (ID) ao DNA em neutrófilos de pacientes com AF em uso do medicamento. Nos ensaios de LDH e MTT, observou-se além de ausência de toxicidade, uma ação citoprotetora no grupo de pacientes tratados, Grupo SSHU (n=21, 11 mulheres e 10 homens, com idades entre 19-63 anos), quando comparados aos pacientes sem tratamento, Grupo SS (n=20, 13 mulheres e 07 homens, 18-69 anos), e grupo de indivíduos saudáveis (AA) usado como controle (n=52, 28 mulheres e 24 homens, 19-60 anos), com redução significativa (p<0,001) na atividade de LDH e aumento no percentual de células viáveis pelo MTT (p<0,001). Entretanto, o grupo SSHU apresentou valores de ID significativamente elevados (49,57±6,0 U/A), quando comparados ao grupo AA (7,43 ± 0,94U/A) e grupo SS (22,73 ±5,58 U/A) (p<0,0001), especialmente quando tratados por períodos mais longos (>20 meses), demonstrando que apesar dos efeitos citoprotetores quanto à viabilidade celular, o uso da HU pode induzir lesão ao DNA de neutrófilos.

Hydroxyurea (HU) is the most important advance in the treatment of sickle cell anaemia (SCA) for preventing complications and improving quality of life for patients. However, some aspects of treatment with HU remain unclear, including their effect on and potential toxicity to other blood cells such as neutrophils. This study used the measurement of Lactate Dehydrogenase (LDH) and Methyl ThiazolTetrazolium (MTT) and the comet assay to investigate the cytotoxicity and damage index (DI) of the DNA in the neutrophils of patients with SCA using HU.In the LDH and MTT assays, a cytoprotective effect was observed in the group of patients treated, as well as an absence of toxicity. When compared to patients without the treatment, the SS group (n=20, 13 women and 07 men, aged 18-69 years), and the group of healthy individuals (AA) used as a control group (n=52, 28 women and 24 men, aged 19-60 years), The SSHU group (n=21, 11 women and 10 men, aged 19-63 years) showed a significant reduction (p<0.001) in LDH activity and an increase in the percentage of viable cells by the MTT (p<0.001). However, the SSHU group presented significantly higher DI values (49.57±6.0 U/A) when compared to the AA group (7.43 ± 0,94U/A) and the SS group (22.73 ±5.58 U/A) (p<0.0001), especially when treated for longer periods (>20 months), demonstrating that despite the cytoprotective effects in terms of cell viability, the use of HU can induce DNA damage in neutrophils.

FUNDAMENTO: Em pacientes com Síndromes Coronarianas Agudas (SCA) sem Supradesnivelamento do Segmento ST (SST), sugere-se que uma série de marcadores (células inflamatórias, hiperglicemia e função renal) é capaz de identificar indivíduos com maior risco para eventos cardiovasculares. OBJETIVO: Avaliar o impacto desses parâmetros laboratoriais em desfechos intra-hospitalares de pacientes com SCA sem SST. MÉTODOS: Foram avaliados prospectivamente 195 pacientes admitidos consecutivamente com SCA sem SST. Foram registrados dados clínicos, demográficos e laboratoriais ao longo do período de internação no hospital, em relação à ocorrência ou não de eventos combinados. RESULTADOS: A idade média foi de 67 ± 12 anos, e 52% eram homens. Na análise da área sob a curva ROC, somente a razão neutrófilo/linfócito (AUC: 70%, IC95%: 56%-82%, p = 0,006) e a creatinina (AUC: 62%, IC95%: 50%-80%, p = 0,03) discriminaram aqueles pacientes com SCA sem SST que apresentaram algum desfecho. Os pacientes que sofreram algum evento adverso durante a internação apresentaram menores contagens de linfócitos (1502 ± 731 / mm³ vs. 2020 ± 862 / mm³; p = 0,002), menores taxas de filtração glomerular (51 ± 27 mL/min vs. 77±34 mL/min; p < 0,001) e maiores níveis séricos de creatinina (2,1 ± 2,7 mg/dL vs. 1,1 ± 1,3 mg/dL; p = 0,047) do que aqueles que tiveram uma hospitalização sem intercorrências. A análise de regressão logística demonstrou que as variáveis que permaneceram como preditores independentes e significativos foram: taxa de filtração glomerular (OR: 1,03; IC95%: 1,00-1,13; p = 0,002), e contagem de linfócitos (OR: 1,02; IC95%: 1,01-1,04; p = 0,03). CONCLUSÃO: A avaliação da função renal e a contagem de linfócitos fornecem uma informação potencialmente útil para a estratificação prognóstica em doentes com SCA sem SST.

BACKGROUND: In patients with acute coronary syndromes (ACS) without ST segment elevation (SSE), it is suggested that a series of markers (inflammatory cells, hyperglycemia and renal function) can identify individuals with increased risk for cardiovascular events. OBJECTIVE: To evaluate the impact of these laboratory parameters on intra-hospital outcomes of patients with ACS with no SSE. METHODS: We prospectively evaluated 195 patients consecutively admitted with ACS with no SSE. Demographic and clinical laboratory data were recorded during the course of the hospitalization period in relation to the occurrence of combined events. RESULTS: Mean age was 67 ± 12 years, and 52% were men. In analyzing the area under the ROC curve, only neutrophil/lymphocyte ratios (AUC: 70%, CI 95% 56%-82%, p = 0.006) and creatinine (AUC: 62%, CI 95% 50%-80%, p = 0.03) discriminated those patients with ACS with no SSE who presented an adverse outcome. The patients who suffered an adverse event during hospitalization had lower lymphocyte counts (1502 ± 731/mm ³ vs. 2020 ± 862/mm³; p = 0.002), lower glomerular filtration rates (51 ± 27 mL / min vs. 77 ± 34 mL/min; p < 0,001) and higher serum creatinine levels (2.1 ± 2.7 mg/dL vs. 1.1 ± 1.3 mg/dL; p = 0.047) than those who progressed through hospitalization without incident. The logistic regression analysis showed that variables remaining as independent and significant predictors were: glomerular filtration rate (OR: 1.03; CI 95%: 1.00 - 1.13, p = 0.002), and lymphocyte count (OR: 1.02; CI95%: 1.01 to 1.04, p = 0.03). CONCLUSION: Assessment of renal function and lymphocyte count provide potentially useful information for the prognostic stratification in patients with ACS with no SSE (Arq Bras Cardiol. 2013; [online].ahead print, PP.0-0).

Anastrepha serpentina (Wiedemann) is recorded for the first time in citrus (Rutaceae) in Brazil. Specimens were obtained from sweet orange (Citrus sinensis) sampled in the municipalities of Belém and Capitão Poço, and from mandarin orange (Citrus reticulata) from Tomé-Açu, state of Pará, Brazil.

Os objetivos deste estudo foram identificar linhagens e híbridos de milho-pipoca promissores quanto à resistência genética à ferrugem tropical (Ftrop, Physopella zeae) em cruzamentos dialélicos, envolvendo nove linhagens derivadas de uma grande parte do germoplasma brasileiro de milho-pipoca, e estimar parâmetros genéticos envolvendo a resistência à Ftrop. Cruzamentos e testemunhas foram testados em delineamento de blocos ao acaso, sob condições de casa-de-vegetação e inoculação artificial. As parcelas consistiram de um vaso de 14 litros, com quatro plantas. A Ftrop foi avaliada pela severidade e pela área abaixo da curva de progresso da doença. Os dados foram analisados pelo modelo dialélico de Griffing e parâmetros genéticos foram estimados. As estimativas de herdabilidade foram médias. A capacidade específica de combinação-CEC teve efeito significativo (P<0,10) para a resistência e foi oito a nove vezes maior que a capacidade geral de combinação-CGC (P>0,10). Isso indicou que os efeitos gênicos não aditivos foram mais importantes. Em geral, as possibilidades de melhoramento foram restritas. A linhagem 9 (L7.4) teve a mais destacada CGC para a resistência e os híbridos 1×7 e 3×6 tiveram destacada CEC e foram recomendados para melhoramento.

The objectives of this study were to identify promising popcorn lines and hybrids for genetic resistance to tropical rust (Tr, Physopella zeae) in diallel crosses of nine lines derived from a large part of Brazilian popcorn germplasm and to estimate genetic parameters for Tr resistance. Crosses and checks were tested in a random block design, with artificial inoculations under greenhouse conditions. Plots consisted of a single 14-L pot, with four plants. Tr was measured by severity and area under the disease progress curve. Data was analyzed by Griffing's diallel model, and genetic parameters were estimated. Heritability estimates to Tr resistance was medium. Specific combining ability-SCA had significant effects (P<0.10) for resistance, and was eight to nine times larger than general combining ability-GCA (P>0.10). This indicated the major importance of non additive gene effects. In general, breeding possibilities for resistance was restricted. The line 9 (L7.4) had the most outstanding GCA for resistance to Tr, and hybrids 1×7 and 3×6 had outstanding SCA and were recommended for breeding.

Ataxia espinocerebelar tipo 1 (SCA1), ataxia espinocerebelar tipo 2 (SCA2) e doença de Machado-Joseph ou ataxia espinocerebelar tipo 3 (MJD/SCA3) são três formas de ataxia espinocerebelar (SCA) que apresentam herança genética autossômica dominante. Nessas três doenças foi encontrada uma expansão instável de trinucleotídeo CAG localizada na região codificadora dos genes responsáveis pelas três doenças. Portanto, para SCA 1, SCA2 e MJD/SCA3 o diagnóstico molecular é agora possível. A atrofia dentatorubropalidoluisiana (DRPLA) é também causada pela expansão de trinucleotídeos CAG e pode por vezes se apresentar como uma SCA. Nós investigamos a freqüência das mutações responsáveis por SCA1, SCA2, MJD/SCA3 e DRPLA em um grupo de 328 pacientes brasileiros com SCA pertencentes a 90 famílias não aparentadas. Esses pacientes apresentavam padrões diferentes de herança genética e eram provenientes de várias regiões do Brasil. Nós identificamos mutações em 35 famílias, 32 das quais com herança claramente autossômica dominante. A freqüência da mutação SGA1 foi de 3% no grupo total de pacientes, e 6% nos pacientes com herança autossômica dominante. Nós encontramos a mutação SCA2 em 6% de todas as famílias e em 9% das famílias com herança autossômica dominante. A mutação MJD/SCA3 foi encontrada em 30% de todos os pacientes, e em 44% quando consideramos somente os pacientes com herança autossômica dominante. Nenhuma mutação DRPLA foi encontrada. Nós observamos também variabilidade na freqüência das diferentes mutações em pacientes provenientes de diferentes regiões geográficas, o que provavelmente se correlaciona com os padrões distintos de colonização do Brasil. Nossos resultados sugerem que os casos de SCA no Brasil podem ser causados ocasionalmente pela mutação SCA1 e SCA2, mas que a causa mais freqüente de SCA de herança autossômica dominante no Brasil é a mutação MJD/SCA3.

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.