A Data Science Approach for the Identification of Molecular Signatures of Aggressive Cancers.

The main hallmarks of cancer include sustaining proliferative signaling and resisting cell death. We analyzed the genes of the WNT pathway and seven cross-linked pathways that may explain the differences in aggressiveness among cancer types. We divided six cancer types (liver, lung, stomach, kidney, prostate, and thyroid) into classes of high (H) and low (L) aggressiveness considering the TCGA data, and their correlations between Shannon entropy and 5-year overall survival (OS). Then, we used principal component analysis (PCA), a random forest classifier (RFC), and protein-protein interactions (PPI) to find the genes that correlated with aggressiveness. Using PCA, we found GRB2, CTNNB1, SKP1, CSNK2A1, PRKDC, HDAC1, YWHAZ, YWHAB, and PSMD2. Except for PSMD2, the RFC analysis showed a different list, which was CAD, PSMD14, APH1A, PSMD2, SHC1, TMEFF2, PSMD11, H2AFZ, PSMB5, and NOTCH1. Both methods use different algorithmic approaches and have different purposes, which explains the discrepancy between the two gene lists. The key genes of aggressiveness found by PCA were those that maximized the separation of H and L classes according to its third component, which represented 19% of the total variance. By contrast, RFC classified whether the RNA-seq of a tumor sample was of the H or L type. Interestingly, PPIs showed that the genes of PCA and RFC lists were connected neighbors in the PPI signaling network of WNT and cross-linked pathways.

Percurso da implantação da Política Nacional de Saúde Integral da População Negra no Brasil / Path of implementation of the National Policy for Comprehensive Healthcare of the Black Population in Brazil / Camino de implementación de la Política Nacional para la Salud Integral de la Población Negra en Brasil

Resumo A população negra é discriminada nas unidades de saúde, tanto como usuários quanto como profissionais de saúde. Tais ações aumentam a vulnerabilidade desses grupos, alargam a distância ao acesso, levam à evasão e favorecem para que o racismo institucional se manifeste por meio de impedimentos aos benefícios preventivos ou curativos dos tratamentos e medicamentos possibilitados pelas políticas públicas de saúde. Com base neste cenário, foi realizada uma revisão narrativa, bibliográfica e não sistemática, a fim de evidenciar os momentos principais dessa trajetória, no que concerne ao estabelecimento de políticas públicas, legislações e reflexões de pesquisadores decoloniais e, principalmente, à implantação da Política Nacional de Saúde Integral da População Negra. A revisão consistiu na busca de documentos técnicos e institucionais da área em base de dados nacionais, além de documentos legais, assim como os não convencionais e não comerciais ou semipublicados (literatura cinza). Este estudo destaca a necessidade de garantias concretas de participação da população negra, possibilitando dar visibilidade às iniquidades. Busca cooperar no sentido de propor mudanças na qualidade da gestão da saúde integral da população negra e outras medidas reparadoras dessa situação na luta pela conquista e garantia de direitos.

Abstract The black population experiences discrimination in health units, both as users and health professionals. These actions increase the vulnerability of these groups, the distance to access, leading to evasion, and favor institutional racism to manifest itself through impediments to access preventive or healing benefits of treatments and medicines made available by public health policies. Based on this scenario, a narrative, bibliographic and non-systematic review was carried out, in order to highlight the main moments of this trajectory with regard to the implementation of public policies, legislation and reflections of decolonial researchers, and especially the implementation of the National Policy on Comprehensive Health of the Black Population. The review consisted of searching for technical and institutional documents in the area in national databases, in addition to legal documents, as well as unconventional and non-commercial or semi-published documents (gray literature). This study highlights the need to provide real guarantees to ensure the participation of the black population, making it possible to make inequalities visible. It seeks to contribute in order to propose changes in the quality of comprehensive health management for the black population and other measures to repair this situation in the struggle to conquer and guarantee rights.

Resumen La población negra es discriminada en las unidades de salud, tanto como usuaria cuanto como profesional de la salud. Estas acciones aumentan la vulnerabilidad de estos grupos, amplían la distancia de acceso, conducen a la evasión y favorecen que el racismo institucional se manifieste a través de impedimentos a los beneficios preventivos o curativos de los tratamientos y medicamentos posibilitados por las políticas públicas de salud. A partir de este escenario, se hizo una revisión narrativa, bibliográfica y no sistemática con el fin de resaltar los principales momentos de esta trayectoria, en cuanto a la implementación de políticas públicas, legislación y reflexiones de los investigadores decoloniales, y en especial la implementación del Sistema Nacional. Política de Salud Integral de la Población Negra. La revisión consistió en la búsqueda de documentos técnicos e institucionales del área en bases de datos nacionales, además de documentos legales así como documentos no convencionales y no comerciales o semipublicados (literatura gris). Este estudio destaca la necesidad de construir garantías concretas para la participación de la población negra que permitan visibilizar las inequidades. Busca cooperar para proponer cambios en la calidad de la gestión integral de la salud de la población negra y otras medidas para reparar esta situación en la lucha por la conquista y garantía de derechos.

"Falando sobre vida renal": cronicidade, subjetividade e legitimação em um podcast de saúde / "Talking about kidney life": chronicity, subjectivity and legitimation in a health podcast

O foco da presente dissertação é investigar como a experiência do adoecimento renal crônico emerge na construção de um podcast de saúde chamado Renalcast, especialmente nos sentidos atribuídos à ideia de uma vida renal. Para tanto, foram realizadas entrevistas online com os dois criadores do projeto, seguidos pela análise do material em áudio e do perfil nas redes sociais do podcast. Dessa forma, primeiro farei uma apresentação dos 26 episódios da primeira temporada do Renalcast, depois esclarecerei as peculiaridades dessa mídia digital, para finalmente abordar como ela aponta para um borramento nas fronteiras entre saberes científicos e experienciais. Constatou-se que o projeto aparece como um espaço para trocas de conhecimento, informação e luta por direitos. A pesquisa do podcast mostrou, assim, que as narrativas veiculadas buscam uma dupla legitimação, ao mesmo tempo em que convidam os ouvintes a buscarem mais conhecimentos e se autorizarem a partir de suas próprias experiências.

The focus of this dissertation is to investigate how the experience of chronic kidney disease emerges in the construction of a health podcast called Renalcast, especially in the meanings attributed to the idea of a renal life. To this end, online interviews were conducted with the two creators of the project, followed by the analysis of the audio material and the profile on the podcast's social networks. Thus, first I will make a presentation of the 26 episodes of the first season of Renalcast, then I will clarify the peculiarities of this digital media, to finally address how it points to a blurring of the borders between scientific and experiential knowledge. It was found that the project appears as a space for exchanging knowledge, information and fighting for rights. The research of the podcast showed, thus, that the transmitted narratives seek a double legitimation, at the same time that they invite the listeners to seek more knowledge and to authorize themselves from their own experiences.

Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis.

Cystic fibrosis (CF) is a rare genetic disease that affects the respiratory and digestive systems. Lung disease is variable among CF patients and associated with the development of comorbidities and chronic infections. The rate of lung function deterioration depends not only on the type of mutations in CFTR, the disease-causing gene, but also on modifier genes. In the present study, we aimed to identify genes and pathways that (i) contribute to the pathogenesis of cystic fibrosis and (ii) modulate the associated comorbidities. We profiled blood samples in CF patients and healthy controls and analyzed RNA-seq data with Weighted Gene Correlation Network Analysis (WGCNA). Interestingly, lung function, body mass index, the presence of diabetes, and chronic P. aeruginosa infections correlated with four modules of co-expressed genes. Detailed inspection of networks and hub genes pointed to cell adhesion, leukocyte trafficking and production of reactive oxygen species as central mechanisms in lung function decline and cystic fibrosis-related diabetes. Of note, we showed that blood is an informative surrogate tissue to study the contribution of inflammation to lung disease and diabetes in CF patients. Finally, we provided evidence that WGCNA is useful to analyze-omic datasets in rare genetic diseases as patient cohorts are inevitably small.

Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic disease.

AIM: To assess whether DNA methylation levels account for the noninherited phenotypic variations observed among cystic fibrosis (CF) patients. PATIENTS & METHODS: Using the 450 K BeadChip, we profiled DNA methylation in nasal epithelial cells collected from 32 CF patients and 16 controls. RESULTS: We detected substantial DNA methylation differences up to 55% (median ß change 0.13; IQR: 0.15-0.11) between CF patients and controls. DNA methylation levels differed between mild and severe CF patients and correlated with lung function at 50 CpG sites. CONCLUSION: In CF samples, dynamic changes of DNA methylation occurred in genes responsible for the integrity of the epithelium and the inflammatory and immune responses, were prominent in transcriptionally active genomic regions and were over-represented in enhancers active in lung tissues. ( Clinicaltrials.gov NCT02884622).

DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis.

BACKGROUND: Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease modifier genes, and environmental exposure. The contribution of genetic factors has been extensively investigated, whereas the mechanism whereby environmental factors modulate the lung disease is unknown. In this project, we hypothesized that (i) reiterative stress alters the epigenome in CF-affected tissues and (ii) DNA methylation variations at disease modifier genes modulate the lung function in CF patients. RESULTS: We profiled DNA methylation at CFTR, the disease-causing gene, and at 13 lung modifier genes in nasal epithelial cells and whole blood samples from 48 CF patients and 24 healthy controls. CF patients homozygous for the p.Phe508del mutation and ≥18-year-old were stratified according to the lung disease severity. DNA methylation was measured by bisulfite and next-generation sequencing. The DNA methylation profile allowed us to correctly classify 75% of the subjects, thus providing a CF-specific molecular signature. Moreover, in CF patients, DNA methylation at specific genes was highly correlated in the same tissue sample. We suggest that gene methylation in CF cells may be co-regulated by disease-specific trans-factors. Three genes were differentially methylated in CF patients compared with controls and/or in groups of pulmonary severity: HMOX1 and GSTM3 in nasal epithelial samples; HMOX1 and EDNRA in blood samples. The association between pulmonary severity and DNA methylation at EDNRA was confirmed in blood samples from an independent set of CF patients. Also, lower DNA methylation levels at GSTM3 were associated with the GSTM3*B allele, a polymorphic 3-bp deletion that has a protective effect in cystic fibrosis. CONCLUSIONS: DNA methylation levels are altered in nasal epithelial and blood cell samples from CF patients. Analysis of CFTR and 13 lung disease modifier genes shows DNA methylation changes of small magnitude: some of them are a consequence of the disease; other changes may result in small expression variations that collectively modulate the lung disease severity.

Prevalência de incontinência urinária e fatores associados em mulheres no climatério em uma unidade de atenção primária à saúde / Prevalence of urinary incontinence and associated factors in climacteric women of a primary health care unit / Prevalencia de incontinencia urinaria y los factores asociados en mujeres en el climaterio de una unidad de atención primaria a la salud

Objetivo: Estimar a prevalência de incontinência urinária (IU) em mulheres no climatério e investigar os fatores associados. Métodos: Trata-se de um estudo quantitativo, do tipo transversal e analítico com 233 mulheres no climatério, na faixa etária de 40 a 65 anos, atendidas em uma Unidade de Atenção Primária a Saúde (UAPS), desenvolvido no período de dezembro de 2014 a junho de 2015. Coletaram-se os dados sociodemográficos, comorbidades, clínicos (obstétricos e ginecológicos) e perfil urinário. Utilizou-se o programa SPSS 19.0 e o teste de qui-quadrado para analisar associação entre as variáveis. Adotou-se nível de significância de 5%. Resultados: A queixa de IU esteve presente em 41,2% (n=96) das mulheres. Verificou-se maior prevalência na faixa etária de 40-45 anos com 36,5% (n=35) (p=0,05), cor parda com 21,9% (n=21) (p=0,002) e escolaridade baixa (até 1º ciclo fundamental completo) com 39,6% (n=38) (p=0,627). Quanto à comorbidades autorreferidas, 38,5% (n=37) das mulheres incontinentes apresentaram hipertensão arterial sistêmica (p=0,96), 17,7% (n=17) diabetes (p=0,982) e 28,1% (n=27) constipação intestinal (p=0,101). Sobre as características clínicas, 41,7% (n=35) tiveram apenas partos do tipo vaginal (p=0,087) e 53,1% (n=51) estavam na menopausa (p=0,113). Verificou-se a IU de esforço em 85,4% (n=82) das mulheres. Conclusão: Encontrou-se elevada prevalência de incontinência urinária em mulheres climatéricas, destacando maior ocorrência nas mais jovens e de cor parda

Objective: To estimate the prevalence of urinary incontinence (UI) and investigate the associated factors. Methods: This is a quantitative, cross-sectional and analytical study with 233 women going through climacteric, in the age range of 40-65 years, seen in a Primary Health Care Unit (PHU), developed in the period from December 2014 to June 2015. Sociodemographic and clinical (obstetrical and gynecological) data, comorbidities and urinary profile were assessed. The software SPSS 19.0 and the chi-square test were employed to evaluate the association between the variables. The significance level of 5% was adopted. Results: Complaint about UI was present in 41.2% (n=96) of women. Higher prevalence was observed in the age group of 40-45 years with 36.5% (n=35) (p <0.05), brown-skinned with 21.9% (n=21) (p=0.002), and low level of education (up to complete Junior High) with 39.6% (n=38) (p=0.627). As for the self-reported comorbidities, 38.5% (n=37) of the incontinent women presented systemic arterial hypertension (p=0.96), 17.7% (n=17) had diabetes (p=0.982), and 28.1% (n=27), constipation (p=0.101). Regarding the clinical characteristics, 41.7% (n=35) had only vaginal delivery (p=0.087) and 53.1% (n=51) were going through menopause (p=0.113). The stress urinary incontinence (SUI) was found in 85.4% (n=82) of the women. Conclusion: A high prevalence of urinary incontinence in climacteric women was found, emphasizing higher frequency among the younger, brownskinned women.

Objetivo: Estimar la prevalencia de incontinencia urinaria (IU) en mujeres en el climaterio y investigar los factores asociados. Métodos: Se trata de un estudio cuantitativo del tipo transversal y analítico con 233 mujeres en el climaterio, en la franja de edad entre 40 y 65 años asistidas en la Unidad de Atención a la Salud (UAPS) desarrollado en el periodo de diciembre de 2014 a junio de 2015. Se recogieron datos sociodemográficos, de comorbidades, clínicos (obstétricos y ginecológicos) y del perfil urinario. Se utilizo el programa SPSS 19.0 y la prueba chi-cuadrado para analizar la asociación entre las variables. Se adoptó el nivel de significancia del 5%. Resultados: La queja de IU estuvo presente en el 41,2% (n=96) de las mujeres. Se verificó mayor prevalência en la franja de edad entre 40-45 años en el 36,5% (n=35) (p=0,05), color pardo en el 21,9% (n=21) (p=0,002) y baja escolaridad (hasta el 1º ciclo fundamental completo) en el 39,6% (n=38) (p=0,627). Respecto las comorbidades autorreferidas, el 38,5% (n=37) de las mujeres con incontinencia presentaron hipertensión arterial sistémica (p=0,96), el 17,7% (n=17) diabetes (p=0,982) y el 28,1% (n=27) constipación intestinal (p=0,101). Sobre las características clínicas, el 41,7% (n=35) tuvieron solamente partos del tipo vaginal (p=0,087) y el 53,1% (n=51) estaban en la menopausia (p=0,113). Se verificó la IU de esfuerzo en el 85,4% (n=82) de las mujeres. Conclusión: Se encontró elevada prevalencia de IU en mujeres en el climaterio destacando mayor ocurrencia en las jóvenes de color pardo.

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.

The genetic mechanisms that regulate CFTR, the gene responsible for cystic fibrosis, have been widely investigated in cultured cells. However, mechanisms responsible for tissue-specific and time-specific expression are not completely elucidated in vivo. Through the survey of public databases, we found that the promoter of CFTR was associated with bivalent chromatin in human embryonic stem (ES) cells. In this work, we analyzed fetal (at different stages of pregnancy) and adult tissues and showed that, in digestive and lung tissues, which expressed CFTR, H3K4me3 was maintained in the promoter. Histone acetylation was high in the promoter and in two intronic enhancers, especially in fetal tissues. In contrast, in blood cells, which did not express CFTR, the bivalent chromatin was resolved (the promoter was labeled by the silencing mark H3K27me3). Cis-regulatory sequences were associated with lowly acetylated histones. We also provide evidence that the tissue-specific expression of CFTR is not regulated by dynamic changes of DNA methylation in the promoter. Overall, this work shows that a balance between activating and repressive histone modifications in the promoter and intronic enhancers results in the fine regulation of CFTR expression during development, thereby ensuring tissue specificity.

De novo transcriptome analysis of Hevea brasiliensis tissues by RNA-seq and screening for molecular markers.

BACKGROUND: The rubber tree, Hevea brasiliensis, is a species native to the Brazilian Amazon region and it supplies almost all the world's natural rubber, a strategic raw material for a variety of products. One of the major challenges for developing rubber tree plantations is adapting the plant to biotic and abiotic stress. Transcriptome analysis is one of the main approaches for identifying the complete set of active genes in a cell or tissue for a specific developmental stage or physiological condition. RESULTS: Here, we report on the sequencing, assembling, annotation and screening for molecular markers from a pool of H. brasiliensis tissues. A total of 17,166 contigs were successfully annotated. Then, 2,191 Single Nucleotide Variation (SNV) and 1.397 Simple Sequence Repeat (SSR) loci were discriminated from the sequences. From 306 putative, mainly non-synonymous SNVs located in CDS sequences, 191 were checked for their ability to characterize 23 Hevea genotypes by an allele-specific amplification technology. For 172 (90%), the nucleotide variation at the predicted genomic location was confirmed, thus validating the different steps from sequencing to the in silico detection of the SNVs. CONCLUSIONS: This is the first study of the H. brasiliensis transcriptome, covering a wide range of tissues and organs, leading to the production of the first developed SNP markers. This process could be amplified to a larger set of in silico detected SNVs in expressed genes in order to increase the marker density in available and future genetic maps. The results obtained in this study will contribute to the H. brasiliensis genetic breeding program focused on improving of disease resistance and latex yield.

Predisposition to idiopathic thrombocytopenic purpura maps close to the major histocompatibility complex class I chain-related gene A.

Idiopathic thrombocytopenic purpura (ITP) is an autoimmune condition with poorly known etiology, characterized by platelet destruction. Genetic association studies of this disease are scarce, discrepant, and restricted to major histocompatibility complex (MHC) polymorphisms. Hence, a case-control study was conducted with an aim to map the MHC to IPT susceptibility using HLA-B and nine microsatellite loci encompassing MHC class I, II, and III regions. We compared the allelic frequencies in samples of unrelated healthy controls and ITP patients. After correction for multiple tests, only allele MICA*183, also known as A5.1, demonstrated an association, resulting in the identification of a major predisposing region close to STR-MICA. This result may highlight the putative functional role of MICA in the immune response to ITP.

Desenvolvimento de recurso de animação como suporte informativo na incontinência urinária / Development of animation resource as information support in urinary incontinence

Esta pesquisa buscou descrever as etapas do desenvolvimento de um recurso de animação como suporte informativo no tratamento da incontinência urinária, culturalmente adaptado em termos de linguagem, características e necessidades de mulheres idosas. Realizou-se estudo descritivo em serviço de atenção à saúde secundária. Subgrupo determinado entre março e abril de 2007. Levantou-se através de formulário, na primeira fase do trabalho, dados sobre variáveis sociodemográficas e antecedentes pessoais relacionados à perda urinária. Para a segunda fase utilizou-se a técnica de associação livre de palavras buscando conhecer o vocabulário empírico adotado pelas participantes para anatomia dos órgãos genitais e assoalho pélvico. Simultaneamente, trabalhou-se junto ao G 1000 para elaboração da tecnologia com imagens animadas e associadas às expressões culturais. Destacam-se 8 mulheres com história de incontinência urinária, destas 04 corresponderam ao subgrupo. A idade variou de 63 a 78 anos. Observou-se número elevado de gestações e de partos vaginais, o tempo de perda urinária variou de 1 a 8 anos, sendo que os episódios semanais aconteciam diariamente. Obteve-se uma diversidade de expressões que auxiliaram o processo de elaboração do recurso com o G1000. O recurso de animação poderá contribuir como estratégia de abordagem clínica na incontinência urinária pelo profissional de saúde.

iThis research project sought to describe the steps in the development of an animation resource with informative support for the treatment of urinary incontinence, culturally adapted in terms of language, characteristics, and the needs of older women. A descriptive study was carried out in a secondary health service. Subgroup determined between March and April of 2007. Data concerning socio-demographic variables and personal history related to urinary loss were surveyed by a questionnaire in the first phase of the study. For the second phase, the technique of free word association was used to learn the empirical vocabulary used by the participants for the anatomy of the genitals and pelvic region. At the same time, a partnership was formed with the G-1000 to develop technology with animated images associated with cultural expressions. Eight women were chosen with a history of urinary incontinence, four of which corresponded to the subgroup. Ages varied from 63 to 78 years. A high number of gestations and vaginal childbirths were observed, and the time of urinary leakage varied from one to eight years, since the weekly episodes happened daily. A wealth of expressions were collected which helped in developing the resource with the G-1000. The animation resource will be able to contribute strategically to the clinical approach to urinary incontinence by the health professional.

Prevalência de lesões ósteo-mio-articulares e fatores de risco associados em atletas amadores de tênis / Prevalence of injuries osteo-mio-articulate and the risk factors associated in amateur athletes of tennis

O tênis é um esporte que exige condicionamento físico, força, flexibilidade, agilidade e coordenação motora. Não havendo uma programação de preparação física, os praticantes realizam movimentos e adaptações inadequadas, provocando lesões e queda no rendimento. A presente pesquisa enfocou uma temática pouco estudada pelos profissionais de saúde em Fortaleza, diante do crescente número de praticantes de tênis. Procurou-se através deste trabalho investigar a prevalência de lesões ósteo-mio-articulares em atletas amadores de tênis e os fatores de risco associado, identificando as regiões do corpo mais acometidas e os tipos de lesões mais freqüêntes. O estudo realizado foi do tipo observacional, realizado em duas academias de tênis, em Fortaleza, de junho a setembro de 2005. Foi aplicado um questionário junto a 53 atletas amadores, com intuito de colher dados que contemplassem os objetivos do estudo. Concluiu-se que a prevalência de lesões foi significativa (75%), acometendo as articulações do cotovelo (18 atletas), ombro e joelho (13), sendo o tennis elbow (18), o entorse de joelho (11) e a tendinite do supra-espinhoso (10) os tipos de lesões mais freqüentes, tendo como principal fator de risco a inexistência de orientação quanto à postura, técnica e biomecânica correta nos gestos esportivos. Outro fator de risco identificado foi a ausência de supervisionamento na execusão da modalidade preventiva, podendo a mesma ser realizada de maneira indevida, perdendo sua eficácia na prevenção de lesões.

Comportamento cardíaco dos pacientes com de insuficiência mitral antes e após a reconstrução valvar / Cardiac behavior of patients with mitral regurgitation before and after valve reconstruction

Esta pesquisa buscou avaliar o comportamento cardíaco dos portadores de Insuficiência Mitral antes e após a reconstrução valvar (protocolo de MIRACLE) no Hospital de Messejana do Coração. Tratou-se de um estudo em prontuários, de 10 pacientes, independente do sexo e da idade, que se submeteram à cirurgia no período de 1999 a 2006. Os dados foram coletados através de uma ficha de avaliação, baseada no Formulário de Registro (Plastia/Troca de válvula mitral em pacientes com disfunção severa do ventrículo esquerdo), contendo aspectos sobre o perfil populacional e exames complementares, e analisados pela estatística inferencial. Os resultados do estudo mostraram predominância do sexo feminino e 2 realizaram transplante cardíaco. Observou-se que 4 pacientes permaneceram na mesma classe funcional (CF) no pós-operatório e 6 evoluíram para CF menor. Os diâmetros sistólico e diastólico reduziram 3,70 mm e 0,50 mm, respectivamente. A fração de ejeção aumentou em 4%. Não se observou diferença significativa quanto à análise da variabilidade da freqüência cardíaca através do Eletrocardiograma. Conclui-se que, após a cirurgia de reconstrução valvar, há melhora da CF e diâmetro sistólico. Sugere-se inserir esses pacientes em programa de reabilitação cardíaca para observar maior melhora no comportamento cardíaco.

This study aimed to evaluate the cardiac behavior of patients with mitral regurgitation before and after valve reconstruction (MIRACLE protocol) at the Hospital Messejana do Coração. It was based on a study of 10 patients, regardless of gender and age, who underwent surgery in the period of 1999 to 2006. The data was collected through an evaluation sheet, based on a Register Form (Repair/Change of Mitral Valve in Patients with Severe Left Ventricle Dysfunction), containing population’s profile aspects and complementary exams, and analyzed by inferential statistics. The patients were mainly female and two of the patients had undergone a cardiac transplant. It was observed that 4 patients staid at the same functional class (FC) during the recovering period and 6 developed minor FC. The systolic and diastolic diameters reduced 3,70 mm and 0,50 mm respectively. The ejection fraction raised 4%. It was not observed any significant difference regarding the cardiac frequency variability by means of electrocardiograph monitoring. It was concluded that there is an improvement of FC and systolic diameter after valve reconstruction surgery. It is suggested to place these patients in cardiac rehabilitation program so that the cardiac behavior improvement may be observed.

Amazonian Amerindians exhibit high variability of KIR profiles.

Natural killer cell immunoglobulin-like receptors (KIRs) mediate cell lysis through the recognition of human leukocyte antigen class I complexes in target cells, playing an important role in innate immune response. In this context, disease-based selective pressures could be relevant, leaving signatures detected by population studies. However, most population studies on KIR variability have focused on Europe and Asia, while Americas, Oceania, and Africa remain poorly studied. The aim of this study was to analyze the variability of KIR genes in Amerindian tribes from the Amazon region to infer about their evolutionary history. KIR profiles were estimated in 40 individuals from six Amazonian Amerindian tribes using single specific primer polymerase chain reaction. Twenty-five different profiles were identified, and surprisingly, the haplogroup A frequency was the lowest observed in human populations (16%). Results showed also that KIR variability was higher in this group in contrast to Venezuelan Amerindians. Principal components analysis evidenced that Amerindians formed a separated group from other worldwide populations and showed a higher intraethnic differentiation in comparison to other ethnic groups. Such pattern may reflect small effective size and intense genetic drift. However, because of the role of KIR in immune response, selective pressures cannot be entirely ruled out.