Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte

Cardiac-Oxidized Antigens Are Targets of Immune Recognition by Antibodies and Potential Molecular Determinants in Chagas Disease Pathogenesis

Trypanosoma cruzi elicits reactive oxygen species (ROS) of inflammatory and mitochondrial origin in infected hosts. In this study, we examined ROS-induced oxidative modifications in the heart and determined whether the resultant oxidized cardiac proteins are targets of immune response and of pathological significance in Chagas disease. Heart biopsies from chagasic mice, rats and human patients exhibited, when compared to those from normal controls, a substantial increase in protein 4-hydroxynonenal (4-HNE), malondialdehyde (MDA), carbonyl, and 3-nitrotyrosine (3-NT) adducts. To evaluate whether oxidized proteins gain antigenic properties, heart homogenates or isolated cardiomyocytes were oxidized in vitro and one- or two-dimensional gel electrophoresis (2D-GE)/Western blotting (WB) was performed to investigate the proteomic oxidative changes and recognition of oxidized proteins by sera antibodies in chagasic rodents (mice, rats) and human patients. Human cardiomyocytes exhibited LD50 sensitivity to 30 µM 4-HNE and 100 µM H2O2 at 6 h and 12 h, respectively. In vitro oxidation with 4-HNE or H2O2 resulted in a substantial increase in 4-HNE- and carbonyl-modified proteins that correlated with increased recognition of cardiac (cardiomyocytes) proteins by sera antibodies of chagasic rodents and human patients. 2D-GE/Western blotting followed by MALDI-TOF-MS/MS analysis to identify cardiac proteins that were oxidized and recognized by human chagasic sera yielded 82 unique proteins. We validated the 2D-GE results by enzyme-linked immunosorbent assay (ELISA) and WB and demonstrated that oxidation of recombinant titin enhanced its immunogenicity and recognition by sera antibodies from chagasic hosts (rats and humans). Treatment of infected rats with phenyl-α-tert-butyl nitrone (PBN, antioxidant) resulted in normalized immune detection of cardiac proteins associated with control of cardiac pathology and preservation of heart contractile function in chagasic rats. We conclude that ROS-induced, cardiac-oxidized antigens are targets of immune recognition by antibodies and molecular determinants for pathogenesis during Chagas disease

The meaning of being a man with intestinal stoma due to colorectal cancer: an anthropological approach to masculinities El significado de ser un hombre com estoma intestinal por cáncer de colorectal: un abordaje antropológico de la masculinidad Os sentidos de ser homem com estoma intestinal por câncer colorretal: uma abordagem na antropologia das masculinidades

This study analyzes the meanings that men with intestinal stoma attribute to their colorectal cancer experience and its treatment. The medical anthropology framework, gender identity and the ethnographic methods were used. A total of 16 men from 40 to 79 years of age, residents in Ribeirão Preto and neighboring cities, SP, Brazil participated in the study. Data collection was carried out through participant observation and semi-structured interviews. Two groups of meanings were selected through inductive data analysis: acknowledging the severity of the disease and the distress of having cancer, and being submitted to surgery and suffering from a stoma. These meanings revealed the tension that develops between traditional patterns of masculinity and the new identities resulting from the experience. The understanding of these meanings from a cultural perspective favors nurse-patient communication and enables planning of care appropriate to these patients' needs.<br>El estudio tuvo como objetivo analizar el significado que los hombres, con estoma intestinal, atribuyen a la experiencia de la enfermedad y al tratamiento de cáncer de colorectal. Fueron utilizadas las referencias teóricas de la antropología médica, de la masculinidad y del método etnográfico. Participaron del estudio 16 hombres en el intervalo de edad de 40 a 79 años, residentes en Ribeirao Preto, SP, y región. La recolección de los datos fue realizada por medio de observaciones participantes y entrevistas semiestructuradas. Por medio del análisis inductivo de los datos, se seleccionó de los núcleos de significados: el reconocimiento de la gravedad de la enfermedad y el sufrimiento de tener cáncer, someterse a la cirugía y al estoma. Esos significados revelan la tensión que se desarrolla entre los estándares tradicionales de masculinidad y las nuevas formas de identidad provocadas por la experiencia. Conocer esos significados, bajo la perspectiva cultural, facilita la comunicación entre enfermero y paciente y permite planificar los cuidados adecuados a sus necesidades.<br>O estudo teve como objetivo analisar os sentidos que homens com estoma intestinal atribuem à experiência da doença e do tratamento do câncer colorretal. Foram utilizados os referencias teóricos da antropologia médica, das masculinidades e do método etnográfico. Participaram do estudo 16 homens na faixa etária de 40 a 79 anos, moradores de Ribeirão Preto, SP, e região. A coleta dos dados foi realizada por meio de observações participantes e entrevistas semiestruturadas. Pela análise indutiva dos dados, selecionou-se dois núcleos de sentidos: o reconhecimento da gravidade da doença e o sofrimento de ter câncer, submeter-se à cirurgia e ao estoma. Esses sentidos revelam a tensão que se desenvolve entre os padrões tradicionais de masculinidade e as novas formas de identidades provocadas pela experiência. Conhecer esses sentidos, sob a perspectiva cultural, facilita a comunicação enfermeiro-paciente e permite o planejamento de cuidados adequados às suas necessidades

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (&#946;) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the &#946;-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of &#946;S haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management