ABSTRACT
ABSTRACT Sickle cell anemia (SCA) is a common genetic blood disorder, affecting millions worldwide. According to current evidence, individuals with SCA have more than 300 times greater risk to develop bacterial meningitis (BM) than the general population. Herein we have described the characteristics of a series of BM cases in SCA patients in Salvador, Brazil, during 13 years of hospital-based surveillance. Data on clinical presentation, laboratory parameters and outcomes were collected retrospectively by reviewing medical records. From 1999 to 2011, ten SCA patients were identified among the 2511 cases of BM (10/2511; 0.40%). These patients were more likely to be male (90%) and to be younger (median age 8.5 years). The causative agents were Streptococcus pneumoniae (n = 5) and Haemophilus influenzae (n = 1). The most frequent pneumococcal serotypes were 23 F (2 cases), 14, 18 F, 23B (one case each). Common medical complications were stroke (n = 3); heart failure (n = 2), respiratory problems (n = 2), renal dysfunctions (n = 2) and leg ulcers (n = 1). This study highlights the importance of S. pneumoniae as a causative agent of meningitis in individuals with SCA and shows the diversity of comorbidities associated with this condition.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Pneumococcal Infections , Haemophilus influenzae , Meningitis, Bacterial , Anemia, Sickle CellABSTRACT
Resumo As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.
Abstract Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.
Subject(s)
Humans , Male , Female , Sickle Cell Trait/epidemiology , Hemoglobins/genetics , Ethnicity/genetics , Anemia, Sickle Cell/epidemiology , Sickle Cell Trait/genetics , Genetic Variation , Brazil/epidemiology , Prevalence , Surveys and Questionnaires , Chromatography, High Pressure Liquid/methods , Consanguinity , Amino Acid Substitution/genetics , Black or African American/genetics , Gene Frequency , Anemia, Sickle Cell/geneticsABSTRACT
Studies on human genetic variations are a useful source of knowledge about human immunodeficiency virus (HIV)-1 infection. The Langerin protein, found at the surface of Langerhans cells, has an important protective role in HIV-1 infection. Differences in Langerin function due to host genetic factors could influence susceptibility to HIV-1 infection. To verify the frequency of mutations in the Langerin gene, 118 samples from HIV-1-infected women and 99 samples from HIV-1-uninfected individuals were selected for sequencing of the promoter and carbohydrate recognition domain (CRD)-encoding regions of the Langerin gene. Langerin promoter analysis revealed two single nucleotide polymorphisms (SNPs) and one mutation in both studied groups, which created new binding sites for certain transcription factors, such as NFAT5, HOXB9.01 and STAT6.01, according to MatInspector software analysis. Three SNPs were observed in the CRD-encoding region in HIV-1-infected and uninfected individuals: p.K313I, c.941C>T and c.983C>T. This study shows that mutations in the Langerin gene are present in the analysed populations at different genotypic and allelic frequencies. Further studies should be conducted to verify the role of these mutations in HIV-1 susceptibility.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Antigens, CD/genetics , HIV Infections/genetics , HIV-1 , Lectins, C-Type/genetics , Mutation , Mannose-Binding Lectins/genetics , Polymorphism, Single Nucleotide/genetics , Promoter Regions, Genetic/genetics , Brazil , Genotype , Gene Frequency/genetics , Genetic Predisposition to Disease/genetics , Hydrophobic and Hydrophilic Interactions , Homeodomain Proteins/genetics , Polymerase Chain Reaction , Sequence Analysis, DNA , /genetics , Transcription Factors/geneticsABSTRACT
INTRODUÇÃO: O diabetes mellitus (DM) é considerado um problema importante de saúde pública; possui prevalência elevada e nos últimos anos observa-se aumento progressivo na sua incidência. OBJETIVO: verificar possíveis variações na concentração de hemoglobina (Hb) glicada (HbA1c) na presença de Hbs S e C e avaliar o impacto da redução da HbA1c na avaliação clínica e no monitoramento do paciente diabético. MATERIAL E MÉTODOS: Foram incluídos no estudo, 150 indivíduos diabéticos oriundos da cidade de Salvador, Bahia, de ambos os gêneros, com idade média de 56 anos. Foram determinadas a glicemia de jejum e a HbA1c por metodologia de oxidase-peroxidase e cromatografia líquida de alta eficiência (CLAE), respectivamente. RESULTADOS: Foram observadas variações na concentração da HbA1c em função da presença de variantes de Hb, como 7,85%, AA; 7,30%, AS e 7,15%, AC. DISCUSSÃO E CONCLUSÃO: A metodologia analítica a ser utilizada para determinação de HbA1c deve ser escolhida com base nas características gerais da população atendida e nas comorbidades associadas, pois a presença de Hbs S e C ocasiona reduções significativas de glicação. Essa redução pode levar a interpretações clínicas inadequadas relativas ao controle glicêmico dos pacientes.
INTRODUCTION: Diabetes mellitus (DM) is considered an important public health problem. It is highly prevalent and its incidence has progressively increased in recent years. OBJECTIVE: To verify possible variations of glycated hemoglobin (HbA1c) concentration in the presence of Hb S and Hb C and to evaluate the impact of HbA1c reduction on clinical evaluation and monitoring of diabetic patients. MATERIAL AND METHODS: This study comprised 150 diabetic individuals from Salvador city, Bahia, from both genders and average age of 56 years old. Fast blood glucose and HbA1c were determined by oxidase-peroxidase and high-performance liquid chromatography (HPLC) methods, respectively. RESULTS: There were variations in the concentration of HbA1c in the presence of hemoglobin variants such as AA (7.85%), AS (7.30%), and AC (7.15%). DISCUSSION AND CONCLUSION: The analytical method used to determine HbA1c needs to be chosen according to the general population characteristics and associated comorbidities, since the presence of hemoglobin S and C causes significant reductions in hemoglobin glycation, which may lead to clinical misinterpretation of patients' glycemic control.
Subject(s)
Diabetes Mellitus/diagnosis , Glycated Hemoglobin/analysisABSTRACT
Amoebiasis is an infection caused by Entamoeba histolytica and is a potential health risk in countries in which health barriers are inappropriate. Since the discovery of Entamoeba dispar, the prevalence of amoebiasis has been modified. OBJECTIVE: This study has standardized the PCR technique applied for the diagnosis of different species of the E. histolytica/E. dispar complex and has evaluated the prevalence of infection among patients attending private and public clinical laboratories in Salvador City, Bahia State, Brazil. RESULTS: Analysis of 52,704 stool samples by microscopic examination demonstrated that 1,788 (3.4 percent) were positive for the E. histolytica/E. dispar complex and infection occurred more often in samples originated from public clinical laboratories (5.0 percent) than those that came from private laboratories (3.2 percent). PCR performed in approximately 15 percent (262) E. histolytica/E. dispar complex positive samples, randomly chosen, amplified 227 samples (86.6 percent), all of them positive for E. dispar. The non-amplified 35 samples (13.4 percent) were also negative for E. histolytica-specific galactose adhesin. Moreover, to exclude a probable infection caused by E. hartmanni, morphometric analysis demonstrated that non-amplified samples had cyst sizes comparable to E. histolytica/E. dispar (>10 µm). CONCLUSION: The absence of amplification of these samples indicates the presence of PCR inhibitors in the stool samples or the presence of DNA from Entamoeba species other than E. dispar, E. histolytica or E. hartmanni.
Subject(s)
Humans , Entamoeba/genetics , Entamoebiasis/diagnosis , Entamoebiasis/parasitology , Polymerase Chain Reaction/methods , Brazil/epidemiology , Diagnosis, Differential , DNA, Protozoan/analysis , Entamoeba histolytica/genetics , Entamoeba histolytica/isolation & purification , Entamoeba/classification , Entamoeba/isolation & purification , Entamoebiasis/epidemiology , Feces/parasitology , Prevalence , Sensitivity and SpecificityABSTRACT
A ocorrência de hematuria foi investigada prospectiva e retrospectivamente em uma amostra de 50 pacientes adultos, portadores de anemia falciforme, hemoglobinopatia SC ou S/beta-talassemia. A origem glomerular ou pós-glomerular da hematuria foi determinada pela investigaçäo do dimorfismo eritrocitário. Durante um ano de seguimento, constatou-se a ocorrência de um ou mais episódios de hematuria em 11/50 (22%) dos pacientes, sendo a origem glomerular dessa manifestaçäo reconhecida em 2/10 (20%) dos casos. Os pacientes com lesäo glomerular manifestaram hematuria contínua, enquanto que aqueles com lesäo pós-glomerular manifestaram hematuria episódica. A frequência de hematuria näo diferiu significativamente entre os pacientes SS e SC, nem entre os falcêmicos e os pacientes de uma amostra geral controle do mesmo hospital. Episódios antecedentes de hematuria confirmada laboratorialmente foram vewrificados em 18/50 (36%) dos casos, variando. no entanto, com o tempo de seguimento ambulatorial
Subject(s)
Adult , Anemia, Sickle Cell , Hematuria/epidemiology , Hemoglobinopathies , Kidney Glomerulus , Thalassemia , BrazilABSTRACT
Säo analisados os resultados de reticulócitos, da contagem global de leucócitos e do parasitológico de fezes de 185 estudantes universitários clínicamente assintomáticos e sintomáticos. Existiu maior proporçäo de indivíduos com reticulócitos elevados no grupo assintomático com parasitológico de fezes patogênico
Subject(s)
Humans , Male , Female , Parasitic Diseases/diagnosis , Erythrocyte Count , Feces/parasitology , Leukocyte CountABSTRACT
Säo analisados os resultados de hemoglobina fetal apresentados por 112 indivíduos com estigma para hemoglobina S e comparados com os resultados de hemoglobina fetal encontrados em 112 indivíduos com homozigose para hemoglobina A. Os estigmas para hemoglobina S foram pareados com os homozigotos de hemoglobina A através do sexo, idade, dosagem de hemoglobina total e hematócrito. A hemoglobina fetal com valores elevados (acima de 1,3%) somente foi encontrada naqueles que possuíam a seguinte associaçäo: estigma para hemoglobina S e dosagem de hemoglobina total igual ou acima de 13,7 g/100 ml para os homens e 12,4 g/100 ml para as mulheres
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Fetal Hemoglobin/genetics , Homozygote , Hemoglobin A/genetics , Hemoglobin, Sickle/geneticsABSTRACT
As concentraçöes de hemoglobina fetal de 42 indivíduos com estigma para hemoglobina C e de cinco indivíduos com homozigose para hemoglobina C foram confrontadas com as concentraçöes de hemoglobina fetal de 47 indivíduos com homozigose para hemoglobina A. Os estigmas e homozigotos para hemoglobina C foram pareados com os homozigotos para hemoglobina A, através de sexo, idade, dosagem de hemoglobina total e hematócrito. Os homens com estigma para hemoglobina C (81,8%) apresentaram valores de hemoglobina fetal acima de 1% de anemia discreta, o mesmo näo se verificando com as mulheres com estigma para hemoglobina C
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Male , Female , Anemia/blood , Fetal Hemoglobin/analysis , Hemoglobin C/analysisABSTRACT
Neste trabalho analisamos a hemoglobina fetal através dos resultados encontrados pelas técnicas da desnaturaçäo alcalina e da eluiçäo ácida em 646 indivíduos. A amostra estudada foi constituída de indivíduos normais (AA), com talassemia minor, com estigma para hemoglobina S (AS), com estigma para hemoglobina C (AC) e anemia falciforme (SS). Sugerimos que os resultados das técnicas em estudo säo conseqüência de fatores biológicos distintos. A eluiçäo ácida está relacionada com o desenvolvimento intra-uterino do sistema eritropoiético, refletindo portanto a maturidade ou imaturidade deste sistema. O método da desnaturaçäo alcalina somente informa a quantidade de hemoglobina F que foi produzida