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1.
Arq. gastroenterol ; 60(1): 132-136, Jan.-Mar. 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1439389

RESUMO

ABSTRACT The food pyramid is a pre-established nutritional education tool. The integration between the intestinal microbiome, food groups, and SCFA-producing bacteria, which benefit from the ingestion of these foods, has the potential to further improve and innovate healthy eating. The diet-microbiome interaction needs to be incorporated into nutrition science, and the food pyramid might assist in this interaction and nutritional learning. Against this context, this brief communication proposes through the food pyramid, the interactions between the intestinal microbiota, food groups, and SCFAs-producing bacteria.


RESUMO A pirâmide alimentar é uma ferramenta pré-estabelecida de educação nutricional. A integração entre microbioma intestinal, grupos de alimentos e bactérias produtoras de ácidos graxos de cadeia curta (AGCC), que se beneficiam da ingestão de carboidratos fermentáveis, tem o potencial de melhorar e inovar ainda mais a proposta de alimentação saudável. O conceito dieta-microbiota intestinal pode ser incorporado à ciência da nutrição, e a pirâmide alimentar pode auxiliar nessa interação nutricional. Diante desse contexto, esta breve comunicação propõe, por meio da pirâmide alimentar, a ampliação do conhecimento entre a microbiota intestinal, grupos alimentares e bactérias produtoras de AGCC.


HIGHLIGHTS •Integration between food pyramid and gut microbiome. •Negative and positive effects of food on the gut microbiome using the food pyramid. •SCFA-s-producing bacteria and their effects on the gut microbiome.

2.
Arq. ciências saúde UNIPAR ; 27(7): 4120-4134, 2023.
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1443183

RESUMO

Introdução: Devido à escassez de pesquisas voltadas para a situação da cobertura vacinal no Nordeste, sobretudo no Maranhão, apresenta-se a necessidade de realizar uma análise comparativa entre os estados da região nordeste do Brasil. Objetivo: Analisar a cobertura vacinal entre os estados na Região Nordeste do Brasil entre 2017 a 2021, por meio da análise de dados secundários provenientes de sistemas de informação em saúde. Metodologia: trata-se de estudo ecológico de série temporal, com uso de dados secundários provenientes de sistemas de informação em saúde. Foi realizado por meio da coleta de dados disponibilizados pelo TABNET do Departamento de Informação e Informática do SUS (DATASUS), referentes ao período entre 2017 e 2021, nos estados da Região Nordeste do Brasil. Resultados: No período de 2017 a 2021 a cobertura vacinal na Região Nordeste do Brasil foi de 64,48%, sendo uma das piores do país, perdendo apenas para Região Norte (63,30%). Cabe salientar que a média no país em todo o período analisado foi de 68,57%, estando bem abaixo do ideal (entorno de 90% a 95% a depender do imunizante). E entre os anos de 2019 a 2020 houve um declínio de 12,05% e em 2021 14,87% da cobertura vacinal na região nordeste do país. Conclusão: Este estudo permitiu realizar uma análise comparativa entre os estados da região nordeste do Brasil com ênfase no estado do maranhão quanto à cobertura vacinal, onde foi observado que, o estado do Maranhão apresenta umas das menores taxas de vacinação em comparação com outros estados da região nordeste.


Introduction: Due to the lack of research focused on the situation of vaccination coverage in the Northeast, especially in Maranhão, there is a need to carry out a comparative analysis between the states of the northeast region of Brazil. Objective: To analyze vaccination coverage among states in the Northeast Region of Brazil between 2017 and 2021, through the analysis of secondary data from health information systems. Methodology: this is an ecological time series study, using secondary data from health information systems. It was carried out by collecting data provided by the TABNET of the Department of Information and Informatics of the SUS (DATASUS), referring to the period between 2017 and 2021, in the states of the Northeast Region of Brazil. Results: In the period from 2017 to 2021, vaccination coverage in the Northeast Region of Brazil was 64.48%, being one of the worst in the country, second only to the North Region (63.30%). It should be noted that the average in the country throughout the analyzed period was 68.57%, well below the ideal (around 90% to 95% depending on the immunizer). And between the years 2019 to 2020 there was a decline of 12.05% and in 2021 14.87% of vaccination coverage in the northeast region of the country. Conclusion: This study made it possible to carry out a comparative analysis between the states of the northeast region of Brazil, with emphasis on the state of maranhão regarding vaccination coverage, where it was observed that the state of Maranhão has one of the lowest vaccination rates compared to other states in the region. northeast region.


Introducción: Debido a la falta de investigaciones centradas en la situación de las coberturas de vacunación en el Nordeste, especialmente en Maranhão, surge la necesidad de realizar un análisis comparativo entre los estados de la región Nordeste de Brasil. Objetivo: Analizar las coberturas de vacunación entre los estados de la Región Nordeste de Brasil entre 2017 y 2021, a través del análisis de datos secundarios de los sistemas de información en salud. Metodología: se trata de un estudio de series temporales ecológicas, utilizando datos secundarios de los sistemas de información en salud. Fue realizado a partir de la recopilación de datos facilitados por el TABNET del Departamento de Información e Informática del SUS (DATASUS), referentes al período comprendido entre 2017 y 2021, en los estados de la Región Nordeste de Brasil. Resultados: En el período de 2017 a 2021, la cobertura de vacunación en la Región Nordeste de Brasil fue del 64,48%, siendo una de las peores del país, superada solo por la Región Norte (63,30%). Cabe señalar que el promedio en el país durante todo el período analizado fue de 68,57%, muy por debajo del ideal (alrededor de 90% a 95% dependiendo del inmunizador). Y entre los años 2019 a 2020 hubo un descenso de 12,05% y en 2021 de 14,87% de las coberturas de vacunación en la región nororiental del país. región nordeste. PALABRAS CLAVE: Cobertura de Vacunación; Vacunas; Enfermedades Prevenibles por Vacunas.

3.
Am J Clin Nutr ; 116(6): 1515-1529, 2022 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-36205549

RESUMO

BACKGROUND: Gut microbiota profiles are closely related to cardiovascular diseases through mechanisms that include the reported deleterious effects of metabolites, such as trimethylamine N-oxide (TMAO), which have been studied as diagnostic and therapeutic targets. Moderate red wine (RW) consumption is reportedly cardioprotective, possibly by affecting the gut microbiota. OBJECTIVES: To investigate the effects of RW consumption on the gut microbiota, plasma TMAO, and the plasma metabolome in men with documented coronary artery disease (CAD) using a multiomics assessment in a crossover trial. METHODS: We conducted a randomized, crossover, controlled trial involving 42 men (average age, 60 y) with documented CAD comparing 3-wk RW consumption (250 mL/d, 5 d/wk) with an equal period of alcohol abstention, both preceded by a 2-wk washout period. The gut microbiota was analyzed via 16S rRNA high-throughput sequencing. Plasma TMAO was evaluated by LC-MS/MS. The plasma metabolome of 20 randomly selected participants was evaluated by ultra-high-performance LC-MS/MS. The effect of RW consumption was assessed by individual comparisons using paired tests during the abstention and RW periods. RESULTS: Plasma TMAO did not differ between RW intervention and alcohol abstention, and TMAO concentrations showed low intraindividual concordance over time, with an intraclass correlation coefficient of 0.049 during the control period. After RW consumption, there was significant remodeling of the gut microbiota, with a difference in ß diversity and predominance of Parasutterella, Ruminococcaceae, several Bacteroides species, and Prevotella. Plasma metabolomic analysis revealed significant changes in metabolites after RW consumption, consistent with improved redox homeostasis. CONCLUSIONS: Modulation of the gut microbiota may contribute to the putative cardiovascular benefits of moderate RW consumption. The low intraindividual concordance of TMAO presents challenges regarding its role as a cardiovascular risk biomarker at the individual level. This study was registered at clinical trials.gov as NCT03232099.


Assuntos
Microbioma Gastrointestinal , Vinho , Masculino , Humanos , Pessoa de Meia-Idade , Cromatografia Líquida , RNA Ribossômico 16S , Espectrometria de Massas em Tandem , Metilaminas , Metaboloma
4.
Obes Surg ; 30(12): 4958-4966, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32915360

RESUMO

INTRODUCTION: The relationship between late post-bariatric surgery weight regain and gut microbiota is not completely understood. OBJECTIVE: To analyze the profile of gut microbiota among patients with and without late weight regain after post-Roux-en-Y gastric bypass (RYGB) and to compare it with a control group (CG) comprised of obese Brazilian individuals. METHODS: This is a cross-sectional study which enrolled 34 morbidly obese women divided into 3 groups: post-Roux-en-Y gastric bypass without (RYGB_non-regain), and with weight regain (RYGB_regain) at least 5 years after surgery, and a CG of preoperative individuals. Gut microbiota was determined by metagenomic analyses. RESULTS: The alpha diversity was higher in groups RYGB non-regain and RYGB regain when compared with CG (p < 0.05). Both RYGB non-regain and RYGB regain groups showed a lower abundance of the phylum Bacteroidetes when compared with CG (p < 0.01). The genera Bacteroides and SMB53 were increased in CG (p < 0.05). Group RYGB non-regain showed more abundance of the Akkermansia genus when compared with CG and group RYGB regain (p < 0.05). RYGB non-regain showed a greater abundance of the Phascolarctobacterium genus and lower of the SMB53 genus when compared with CG (p < 0.05). RYGB non-regain showed a greater abundance of the Phascolarctobacterium genus and a lower of the SMB53 genus when compared with CG (p < 0.05). CONCLUSION: The gut microbiota of individuals which presented late weight regain after RYGB was significantly different in comparison to individuals with a successful weight loss, a finding that points towards a significant role of gut microbiota on weight loss and maintenance after surgery.


Assuntos
Derivação Gástrica , Microbioma Gastrointestinal , Obesidade Mórbida , Brasil , Estudos Transversais , Feminino , Humanos , Obesidade Mórbida/cirurgia , Aumento de Peso
5.
Tempus (Brasília) ; v. 14(n. 3): 135-142, set. 2020.
Artigo em Português | LILACS | ID: biblio-1425421

RESUMO

Imigração é um assunto que tem recebido atenção nos últimos anos, cerca de 774.000 imigrantes foram registrados até o ano de 2018, e dentre as nacionalidades mais frequentes está a haitiana. O objetivo deste estudo foi relatar o aperfeiçoamento da atenção odontológica ao paciente haitiano e melhoria no acesso à Unidade de Básica de Saúde por meio de tradução dos termos odontológicos. Inicialmente foi realizado o reconhecimento territorial da área de abrangência da UBS, onde constatou-se que a Unidade Básica de Saúde assistia 470 imigrantes haitianos. A equipe elaborou e distribuiu a população cartilhas e panfletos para que a população em geral conhecesse sobre a cultura haitiana, simultaneamente realizou-se a tradução fichas de agendamento, anamnese, placas de identificação do consultório e de normas de segurança além de uma ficha de auto percepção do paciente sobre sua saúde bucal, sendo que estas foram aplicadas durante os atendimentos clínicos. Após seis meses foi realizado um levantamento com imigrantes e profissionais de saúde e constatou-se que à partir desta experiência houve redução significativa da barreira de comunicação, e consequentemente houve melhora no acolhimento dos pacientes. O aperfeiçoamento dos serviços e a adequação dos servidores foi de extrema importância para melhorar o contato entre profissionais da saúde e imigrantes, além da formação interprofissional, e fortalecimento da integração ensino-serviço-comunidade. (AU)


Nowadays immigration has been received much attention, circa of 774,000 immigrants has been registered until 2018, and one of the most frequently nationality registered is the Haitian. The aim of this study is to report the improvement of dental care and access to the Health Basic Unit to Haitian patients. At first, we did a territorial recognition, and verified that the Health Basic Unit assisted 470 Haitian immigrants. The team elaborated and distributed flyers to the general population containing informations about Haitian culture, and translated to Haitian dialect, schedule sheets, anamneses sheets, identification e security plates, and oral health self-perception sheets, and applied them to the dental consultations. After six months through an interview with immigrants and health team, we verified that from this experience promoted significant communication barrier reduction, and improvement of embracement of patients. The development of health services and health team was important to improve the professional-patient relationship, promoted interprofessional training and teaching-service-community strengthening. (AU)


La inmigración es un tema que ha recibido atención en los últimos años, alrededor de 774,000 inmigrantes se registraron hasta 2018, y una de las nacionalidades más frecuentes es la haitiana. El objetivo de este estudio fue informar la mejora de la atención dental para pacientes haitianos y un mejor acceso a la Unidad Básica de Salud a través de la traducción de términos dentales. Inicialmente, se realizó el reconocimiento territorial del área de cobertura de la UBS, donde se descubrió que la Unidad Básica de Salud asistió a 470 inmigrantes haitianos. El equipo preparó y distribuyó los folletos y folletos de la población para que la población en general pudiera aprender sobre la cultura haitiana, al mismo tiempo que se llevó a cabo la traducción de las hojas de programación, anamnesis, identificación de la oficina y placas de seguridad y un formulario de registro de automóviles. percepción del paciente sobre su salud bucal, que se aplicaron durante la atención clínica. Después de seis meses, se realizó una encuesta con inmigrantes y profesionales de la salud y se descubrió que a partir de esta experiencia hubo una reducción significativa en la barrera de comunicación y, en consecuencia, hubo una mejora en la recepción de pacientes. La mejora de los servicios y la adecuación de los funcionarios públicos fue extremadamente importante para mejorar el contacto entre los profesionales de la salud y los inmigrantes, además de la capacitación interprofesional y el fortalecimiento de la integración de la enseñanza-servicio-comunidad.


Assuntos
Emigração e Imigração , Assistência Odontológica , Sociedade Receptora de Migrantes
6.
Sci Rep ; 9(1): 13263, 2019 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-31520001

RESUMO

Previous studies have demonstrated that patients with Crohn's disease (CD) in remission do not exhibit an improvement in gut microbiota composition, which might trigger relapses. The present study investigated the dysbiosis and mucins production in CD patients during remission. We performed an analytical cross-sectional single center study, which recruited 18 CD patients and 18 healthy controls (CG) residing in the same home, meaning that all of the participants experienced the same environmental factors, with similar hygiene status, diet, pollution and other common lifestyle characteristics that may influence the composition of the gut microbiota. When compared to healthy controls, the CD patients exhibited lower microbial α-diversity (p = 0.047), a greater abundance of the Proteobacteria phylum (p = 0.037) and a reduction in the Deltaproteobacteria class (p = 0.0006). There was also a reduction in the Akkermansia (p = 0.002) and Oscillospira (p = 0.024) genera and in the proportion of the yeast Saccharomyces cerevisiae (p = 0.01). Additionally, CD patients in remission presented increased neutral (p = 0.001) and acid mucin (p = 0.002) concentrations. The reductions in the proportions of Oscollospira and Akkermansia genera, sulfate-reducing bacteria and Saccharomyces cerevisiae, observed in the CD group, may account for the increased mucins production observed in these patients.


Assuntos
Bactérias/isolamento & purificação , Doença de Crohn/microbiologia , Disbiose/prevenção & controle , Microbioma Gastrointestinal , Mucinas/metabolismo , Adulto , Bactérias/classificação , Bactérias/genética , Estudos de Casos e Controles , Doença de Crohn/terapia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Indução de Remissão , Adulto Jovem
7.
Artigo em Inglês | MEDLINE | ID: mdl-30214428

RESUMO

In obesity, insulin resistance (IR) and diabetes, there are proteins and hormones that may lead to the discovery of promising biomarkers and treatments for these metabolic disorders. For example, these molecules may impair the insulin signaling pathway or provide protection against IR. Thus, identifying proteins that are upregulated in IR states is relevant to the diagnosis and treatment of the associated disorders. It is becoming clear that hepatocyte growth factor (HGF) is an important component of the pathophysiology of IR, with increased levels in most common IR conditions, including obesity. HGF has a role in the metabolic flux of glucose in different insulin sensitive cell types; plays a key role in ß-cell homeostasis; and is capable of modulating the inflammatory response. In this review, we discuss how, and to what extent HGF contributes to IR and diabetes pathophysiology, as well as its role in cancer which is more prevalent in obesity and diabetes. Based on the current literature and knowledge, it is clear that HGF plays a central role in these metabolic disorders. Thus, HGF levels could be employed as a biomarker for disease status/progression, and HGF/c-Met signaling pathway modulators could effectively regulate IR and treat diabetes.

8.
Hematol., Transfus. Cell Ther. (Impr.) ; 40(1): 5-11, Jan.-Mar. 2018. tab, ilus
Artigo em Inglês | LILACS | ID: biblio-953798

RESUMO

Abstract Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations. Method: Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations. A non-affected group of Brazilian individuals were also screened for the most commonly reported variants (c.1456C>T and c.1529G>A). Results: Ten different variants were identified in the PKLR gene, of which three are reported here for the first time: p.Leu61Gln, p.Ala137Val and p.Ala428Thr. All the three missense variants involve conserved amino acids, providing a rationale for the observed enzyme deficiency. The allelic frequency of c.1456C>T was 0.1% and the 1529G>A variant was not found. Conclusion: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The results allowed us to correlate the severity of the clinical phenotype with the identified variants.


Assuntos
Humanos , Masculino , Feminino , Piruvato Quinase/deficiência , Eritrócitos , Anemia Hemolítica , Mutação
9.
Chemosphere ; 182: 267-275, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28500971

RESUMO

The aim of this work was to investigate the effects of glyphosate on the antioxidant system, as well as the neurotoxic effects on the larvae of Rhamdia quelen. A completely randomized design was implemented with the eggs of silver catfish distributed in 48 containers with 300 mL of water, which were subdivided randomly into two groups: control and treated with 6.5 mg L of glyphosate. These groups were evaluated at four time points (12 h, 24 h, 48 h, and 72 h), each with six replications. The survival rate of eggs/larvae (%) was evaluated, and samples were collected for antioxidant system analysis (catalase - CAT, glutathione transferase - GST, glutathione reductase - GR, and lipoperoxidation - LPO), and neurotoxic evaluation (cholinesterase - ChE). Throughout the 72 h of experimentation, there was a higher survival rate among the animals treated with glyphosate. The highest value of integrated biomarkers response (IBR = 1.26) was at 12 h, presenting induction of the cholinesterase (ChE) enzyme and GR. At 24 h, the value of IBR was -2.56, with inhibition of ChE and induction of GR. At 48 h, the value was -0.76, with induction of LPO. The lowest value of IBR was at 72 h (-4.65), with induction of GST and inhibition of all other biomarkers. Finally, it was possible to detect an acute effect of glyphosate throughout the early development of R. quelen, with a decrease in the antioxidant system control and neurotoxic effects.


Assuntos
Peixes-Gato , Glicina/análogos & derivados , Larva/efeitos dos fármacos , Praguicidas/toxicidade , Animais , Antioxidantes/análise , Antioxidantes/farmacologia , Biomarcadores/metabolismo , Catalase/metabolismo , Colinesterases/metabolismo , Glutationa Redutase/metabolismo , Glutationa Transferase/metabolismo , Glicina/farmacologia , Larva/metabolismo , Neurotoxinas/farmacologia , Oxirredução , Praguicidas/química , Taxa de Sobrevida , Poluentes Químicos da Água/toxicidade , Glifosato
10.
Acta Haematol ; 134(4): 248-54, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26159458

RESUMO

Early reduction of BCR-ABL1 transcript levels has been associated with improved outcome in chronic myeloid leukemia (CML) treatment. We evaluated 54 chronic-phase CML patients treated with imatinib who switched therapy to dasatinib (n = 33) or nilotinib (n = 21). BCR-ABL1 transcript levels were measured in peripheral blood using real-time quantitative PCR (RQ-PCR) every 3 months from the start of second-line treatment. Patients with BCR-ABL transcript levels >10% at 3 months and >1% at 6 months had significantly inferior progression-free (PFS) and event-free survival (EFS) than patients with RQ-PCR <10% at 3 months and <1% at 6 months (66 vs. 100%, p = 0.01, and 33 vs. 73%, p = 0.02, respectively). Patients with RQ-PCR <10% at 3 months and >1% at 6 months also had inferior PFS and EFS than patients with RQ-PCR <10% at 3 months and <1% at 6 months (48 vs. 100%, p = 0.002, and 25 vs. 73%, p < 0.0001, respectively). Two measurements of BCR-ABL levels were better than a single one to stratify chronic-phase CML patients as failure after second-line therapy.


Assuntos
Proteínas de Fusão bcr-abl/sangue , Mesilato de Imatinib/administração & dosagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , RNA Mensageiro/sangue , RNA Neoplásico/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Falha de Tratamento
11.
Blood Cells Mol Dis ; 53(4): 246-52, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25153905

RESUMO

Pyrimidine-5'-nucleotidase type I (P5'NI) deficiency is an autosomal recessive condition that causes nonspherocytic hemolytic anemia, characterized by marked basophilic stippling and pyrimidine nucleotide accumulation in erythrocytes. We herein present two African descendant patients, father and daughter, with P5'N deficiency, both born from first cousins. Investigation of the promoter polymorphism of the uridine diphospho glucuronosyl transferase 1A (UGT1A) gene revealed that the father was homozygous for the allele (TA7) and the daughter heterozygous (TA6/TA7). P5'NI gene (NT5C3) gene sequencing revealed a further change in homozygosity at amino acid position 56 (p.R56G), located in a highly conserved region. Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity of the UGT1A polymorphism was responsible for the more severe clinical features in the father. Moreover, our results show how the clinical expression of hemolytic anemia is influenced by epistatic factors and we describe a new mutation in the P5'N gene associated with enzyme deficiency, iron overload, and severe gallstone formation. To our knowledge, this is the first description of P5'N deficiency in South Americans.


Assuntos
5'-Nucleotidase/deficiência , Anemia Hemolítica Congênita/genética , Colestase/genética , Doença de Gilbert/genética , Glicoproteínas/genética , Sobrecarga de Ferro/genética , Cirrose Hepática/genética , 5'-Nucleotidase/genética , Adulto , Alelos , Anemia Hemolítica Congênita/complicações , Anemia Hemolítica Congênita/enzimologia , Anemia Hemolítica Congênita/patologia , Criança , Colestase/complicações , Colestase/enzimologia , Colestase/patologia , Consanguinidade , Epistasia Genética , Feminino , Doença de Gilbert/complicações , Doença de Gilbert/enzimologia , Doença de Gilbert/patologia , Heterozigoto , Homozigoto , Humanos , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/enzimologia , Sobrecarga de Ferro/patologia , Fígado/enzimologia , Fígado/patologia , Cirrose Hepática/complicações , Cirrose Hepática/enzimologia , Cirrose Hepática/patologia , Masculino , Regiões Promotoras Genéticas , Análise de Sequência de DNA
12.
Campinas; s.n; 2011. 189 p. ilus, tab, graf, mapas.
Tese em Português | LILACS | ID: lil-617593

RESUMO

Uma complicação decorrente do tratamento da hemofilia é a formação de anticorpos neutralizadores da atividade coagulante do fator VIII ou IX (inibidores). Diversos fatores estão relacionados com o desenvolvimento desses inibidores em indivíduos com hemofilia, incluindo fatores genéticos e ambientais. Entre os fatores genéticos, a mutação associada ao diagnóstico da hemofilia é um fator de risco bem documentado. Recentemente foi observada a maior ocorrência de inibidores em indivíduos da etnia negra. O objetivo deste trabalho foi analisar os aspectos genéticos e não genéticos envolvidos no desenvolvimento de inibidores. Foram incluídos nesse estudo 411 pacientes hemofílicos, sendo 321 com hemofilia A (HA) (238 famílias) e 99 com hemofilia B (HB) (59 famílias). A presença de inibidores foi constatada apenas entre os pacientes HA graves. Do total de 220 HA graves desse estudo, 46 (20,9%) apresentaram inibidor detectado em pelo menos uma ocasião após sua inclusão no estudo. Mutações consideradas de alto-risco para o desenvolvimento de inibidores foram identificadas em 125/220 pacientes HA graves (58,8%), e 33 deles desenvolveram inibidores (26,4%). Considerando o grupo étnico de acordo com traços físicos e ancestralidade, 38% dos pacientes HA graves foram classificados como negros. A incidência de inibidores foi maior nesse grupo de pacientes (31% do total de pacientes HA graves classificados como negros) quando comparada aos pacientes caucasóides (20% do total de pacientes HA graves classificados como caucasóides). Recentemente, foi observado que a maior incidência de inibidores em uma população norte-americana de pacientes com HA, estava relacionada com a presença de determinados haplótipos no gene do fator VIII...


The most serious complication of the treatment of hemophilia is the development of neutralizing antibodies to coagulation activity of factor VIII or IX (inhibitors). Several risk factors are related to the development of these inhibitors in patients with hemophilia, including genetic and environmental factors. Among genetic factors, the mutation associated with the diagnosis of hemophilia is a risk factor well documented. Recently, it was observed a higher incidence of inhibitors in African ancestry patients. The aim of this study was to analyze the genetic and non-genetic factors involved in the development of inhibitors. The study included 411 hemophilia patients, of which 321 with hemophilia A (HA) and 99 with hemophilia B (HB), belonging to a total of 238 and 59 families, respectively. The inhibitors were observed only in severe HA patients. From the 220 severe HA, 46 (20.9%) had inhibitor. The high risk mutation for the development of inhibitors were identified in 125 / 220 (58.8 %) severe HA patients, and 33 (26.4 %) of them developed inhibitors. Considering the ethnic group according to physical traits and ancestry, 38 % of severe HA patients were classified as black. The incidence of inhibitors is higher in this group of patients (31%) when compared to Caucasian patients (20%). The higher risk of inhibitor among African-Brazilians, could not be explained by the presence of the distinct factor VIII haplotypes, such as H3 and H4, as suggested in previous study.


Assuntos
Humanos , Masculino , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Haplótipos , Hemofilia A/genética , Hemofilia A/imunologia , Hemofilia B/genética , Hemofilia B/imunologia , Brasil , Etnicidade , Fator IX , Fator VIII , Genótipo , Sistema Imunitário/imunologia
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