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Genetic, sociodemographic and lifestyle factors associated with serum 25-hydroxyvitamin D concentrations in Brazilian adults: the Pró-Saúde Study
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Bezerra, Flávia Fioruci

; Normando, Paula

; Fonseca, Ana Carolina P.

; Zembrzuski, Verônica

; Campos-Junior, Mario

; Cabello-Acero, Pedro Hernan

; Faerstein, Eduardo

Cadernos de Saúde Pública

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2022, Volume 38 Nº 1 elocation e00287820

Resumo: Pt En Es | Texto: Pt En Es | PDF: Pt | PDF: En | PDF: Es

Este estudo teve como objetivo investigar fatores associados com as concentrações séricas de 25-hidroxivitamina [25(OH)D] em adultos brasileiros de acordo com fatores sociodemográficos e de estilo de vida, assim como de polimorfismos de nucleotídeo único (SNPs) relacionados à vitamina D. Este é um estudo transversal (n = 491; 34-79 anos; 251 mulheres) aninhado em uma coorte prospectiva (Estudo Pró-Saúde). Associações entre a 25(OH)D sérica e características sociodemográficas, consumo alimentar, uso de suplementos, atividade física, estação do ano na coleta da amostra de sangue, gordura corporal, fototipo de pele, índice de exposição solar e SNPs CYP2R1-rs10741657 e GC-rs2282679, explorados por regressão multilinear. A prevalência de 25(OH)D sérica < 50nmol/L foi 55%. A concentração sérica de 25(OH)D foi menor entre mulheres (β = -4,38; IC95%: -8,02; -0,74), indivíduos com mais gordura visceral (β = -4,02; IC95%: -5,92; -2,12) e genótipos AC e CC para GC-rs2282679 (β = -6,84; IC95%: -10,09; -3,59 e β = -10,63; IC95%: -17,52; -3,74, respectivamente). Os fatores associados diretamente à 25(OH)D sérica incluíram os meses de verão (β = 20,14; IC95%: 14,38; 25,90), fototipo intermediário (β = 6,16; IC95%: 2,52; 9,80), maior exposição solar (β = 0,49; IC95%: 0,22; 0,75), ingestão de vitamina D (β = 0,48; IC95%: 0,03; 0,93) e atividade física (β = 4,65; IC95%: 1,54; 7,76). Além de atividade física, dieta e exposição solar, fatores não modificáveis, tais como variantes do gene GC devem ser considerados na avaliação da deficiência de vitamina D em populações miscigenadas. Além disso, merece atenção a associação entre a gordura visceral elevada e o pior estado de vitamina D, uma vez que ambas as condições implicam em desfechos de saúde desfavoráveis, tanto crônicos quanto agudos.

This study aims to investigate factors associated with serum 25-hydroxyvitamin D [25(OH)D] concentration in Brazilian adults considering sociodemographic and lifestyle factors, as well as vitamin D-related single nucleotide polymorphisms (SNPs). This is a cross-sectional study (n = 491; 34-79y; 251 women), nested within a prospective cohort (Pró-Saúde Study). Associations between serum 25(OH)D and sociodemographic characteristics, diet, use of supplement, physical activity, season of blood collection, body fat, skin type, sun exposure index, and SNPs CYP2R1-rs10741657 and GC-rs2282679 were explored by multiple linear regression. The prevalence of serum 25(OH)D < 50nmol/L was 55%. Serum 25(OH)D was lower among women (β = -4.38; 95%CI: -8.02; -0.74), those with higher visceral fat (β = -4.02; 95%CI: -5.92; -2.12), and those with AC and CC genotypes for GC-rs2282679 (β = -6.84; 95%CI: -10.09; -3.59; β = -10.63; 95%CI: -17.52; -3.74, respectively). Factors directly associated with serum 25(OH)D included summer (β = 20.14; 95%CI: 14.38; 25.90), intermediate skin type (β = 6.16; 95%CI: 2.52; 9.80), higher sun exposure (β = 0.49; 95%CI: 0.22; 0.75), vitamin D intake (β = 0.48; 95%CI: 0.03; 0.93), and physical activity (β = 4.65; 95%CI: 1.54; 7.76). Besides physical activity, diet, and sun exposure, non-modifiable factors, such as GC genotypes must be considered when evaluating vitamin D insufficiency in mixed-race populations. Moreover, high visceral fat in association with poorer vitamin D status deserve attention given that both conditions are unfavorably related with chronic and acute health outcomes.

Nuestro objetivo fue investigar factores asociados con la concentración sérica 25-hidroxivitamina D [25(OH)D] en adultos brasileños, considerando factores sociodemográficos y de vida, así como también los polimorfismos de nucleótido único relacionados con la vitamina D (SNPs). Se trata de un estudio transversal (n = 491; 34-79 años; 251 mujeres), anidado dentro de una cohorte prospectiva (Estudio Pro-Salud). Se investigaron las asociaciones entre concentración sérica 25(OH)D y características sociodemográficas, ingesta alimentaria, uso de suplementos, actividad física, estación del año de recogida de muestras de sangre, grasa corporal, tipo de piel, índice de exposición al sol, y SNPs CYP2R1-rs10741657 y GC-rs2282679 mediante una regresión múltiple lineal. La prevalencia sérica 25(OH)D < 50nmol/L fue 55%. La 25(OH)D sérica fue menor entre las mujeres (β = -4,38; IC95%: -8,02; -0,74), quienes tenían alta grasa visceral (β = -4,02; IC95%: -5,92; -2,12), genotipos AC y CC para GC-rs2282679 (β = -6,84; IC95%: -10,09; -3,59 y β = -10,63; IC95%: -17,52; -3,74, respectivamente). Los factores directamente asociados con la concentración sérica 25(OH)D incluyeron verano (β = 20,14; IC95%: 14,38; 25,90), tipo de piel intermedia (β = 6,16; IC95%: 2,52; 9,80), más alta exposición al sol (β = 0,49; IC95%: 0,22; 0,75), toma de vitamina D (β = 0,48; IC95%: 0,03; 0,93) y actividad física (β = 4,65; IC95%: 1,54; 7,76). Además de la actividad física, dieta y exposición al sol, los factores no modificables, tales como genotipos GC, necesitan tenerse en cuenta cuando se está evaluando la insuficiencia de vitamina D en poblaciones mestizas. Asimismo, las implicaciones de la asociación de una alta grasa visceral con un estatus más pobre de vitamina D merece que se le preste atención, puesto que ambas condiciones de salud están relacionadas desfavorablemente con resultados de salud graves y crónicos.

https://doi.org/10.1590/0102-311x00287820

Genetic, sociodemographic and lifestyle factors associated with serum 25-hydroxyvitamin D concentrations in Brazilian adults: the Pró-Saúde Study
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Bezerra, Flávia Fioruci

; Normando, Paula

; Fonseca, Ana Carolina P.

; Zembrzuski, Verônica

; Campos-Junior, Mario

; Cabello-Acero, Pedro Hernan

; Faerstein, Eduardo

Cadernos de Saúde Pública

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2022, Volume 38 Nº 1 elocation e00287820

Resumo: Pt En Es | Texto: Pt En Es | PDF: Pt | PDF: En | PDF: Es

https://doi.org/10.1590/0102-311x00287820

Geographical origin of chronic Chagas disease patients in Brazil impacts the performance of commercial tests for anti-T. cruzi IgG
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Sáez-Alquezar, Amadeo

; Junqueira, Angela Cristina Verissimo

; Durans, Andressa da Matta

; Guimarães, André Valpassos

; Corrêa, José Abol

; Borges-Pereira, José

; Zauza, Patrícia Lago

; Cabello, Pedro Hernan

; Albajar-Viñas, Pedro

; Provance Jr, David William

; Coura, José Rodrigues

Memórias do Instituto Oswaldo Cruz

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2021, Volume 116 elocation e210032

Resumo: En | Texto: En | PDF: En

BACKGROUND Chagas disease, caused by Trypanosoma cruzi, affects nearly six million people worldwide. Various serological tests have been developed for its diagnosis. OBJECTIVE Examine the performance of a set of commercial immunological assays in relation to the geographical origin of the patient sample comparing four states of Brazil: Amazonas (AM), Mato Grosso do Sul (MS), Minas Gerais (MG) and Piauí (PI). METHODS Seven immunoassays were employed to detect anti-T. cruzi IgG antibodies in 379 patient samples that had been previously diagnosed using the two-step protocol required by the Brazilian Ministry of Health. FINDINGS A significant variation in the percent reactive was calculated for the samples from AM and MS, while the PI and MG showed a significant variation in the percent non-reactive. The average reactivity index was significantly higher for samples from the states of PI and MG states than AM and MS. MAIN CONCLUSIONS All tests presented a satisfactory performance overall. Yet, variations were observed that were associated to the region of origin of the samples. Our analyses suggest that future evaluations of immunoassays should include a sampling of sera from regions where the test will be applied in addition to the available International Biological Reference Standards.

https://doi.org/10.1590/0074-02760210032 138 downloads

Genetic variants in the fat mass and obesity-associated (FTO) gene confer risk for extreme obesity and modulate adiposity in a Brazilian population
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Fonseca, Ana Carolina Proença da

; Marchesini, Bruna

; Zembrzuski, Verônica Marques

; Voigt, Danielle Dutra

; Ramos, Vivianne Galante

; Carneiro, João Regis Ivar

; Nogueira Neto, José Firmino

; Cabello, Giselda Maria Kalil de

; Cabello, Pedro Hernán

Genetics and Molecular Biology

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2020, Volume 43 Nº 1 elocation e20180264

Resumo: En | Texto: En | PDF: En

Abstract Obesity is a major public health problem worldwide. It has a complex etiology, influenced by environmental and genetic factors. FTO has been recognized as an important genetic factor for obesity development. This study evaluated the contribution of FTO polymorphisms (rs9939609 and rs17817449) for extreme obesity in terms of the period of obesity onset, anthropometric, and biochemical parameters. The haplotype and the combined effects of FTO risk alleles on obesity susceptibility were evaluated. We investigated 169 normal-weight subjects (body mass index, BMI: 22.8 [21.0; 24.0] kg/m2) and 123 extremely obese individuals (BMI: 47.6 [44.1; 53.1] kg/m2). Genotyping was performed by real time PCR. Our results showed a strong association between FTO variants and extreme obesity. Carriers of the AT haplotype had an increased risk for extreme obesity. Gene scores suggested that the risk of developing extreme obesity was increased 1.37-fold per risk allele added. Both polymorphisms also influenced BMI and body weight. Additionally, rs17817449 influenced triglyceride levels. No effect of FTO variants on the period of obesity onset was found. In conclusion, the FTO polymorphisms showed a strong association with development of extreme phenotype of obesity and adiposity modulation in a Brazilian population.

https://doi.org/10.1590/1678-4685-gmb-2018-0264 1270 downloads

Application of WHO International Biological Reference Standards to evaluate commercial serological tests for chronic Chagas disease
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Sáez-Alquezar, Amadeo

; Junqueira, Angela Cristina Verissimo

; Durans, Andressa da Matta

; Guimarães, André Valpassos

; Corrêa, José Abol

; Provance Jr, D William

; Cabello, Pedro Hernan

; Coura, José Rodrigues

; Viñas, Pedro Albajar

Memórias do Instituto Oswaldo Cruz

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2020, Volume 115 elocation e200214

Resumo: En | Texto: En | PDF: En

BACKGROUND Chagas disease, resulting from Trypanosoma cruzi infections, continues to be a health concern mainly in Latin American countries where the parasite is endemic. The laboratory diagnosis of a chronic infection is determined through serological assays for antibodies against T. cruzi and several tests are available that differ in key components, formats and methodologies. To date, no single test meets the criteria of a gold standard. The situation is further complicated by the difficulties associated with performance comparisons between different immunoassays or methodologies executed at different times and geographical areas. OBJECTIVE To improve the diagnosis of Chagas disease, the WHO coordinated the development of two International Biological Reference Standards for antibodies against anti-T. cruzi: NIBSC 09/186 and NIBSC 09/188 that respectively represent geographical regions with the highest prevalence of TcII and TcI lineages of the parasite. METHODS The principle goal of this study was to verify the behavior of these standards when assayed by several commercially available serological tests that employ different methods to capture and detect human anti-T. cruzi antibodies. FINDINGS AND MAIN CONCLUSIONS The results reinforce the recommendation that these standards be considered for performance evaluations of commercialised immunoassays and should be an integral step in the development of new test components or assay paradigms.

https://doi.org/10.1590/0074-02760200214 828 downloads

Consenso sobre accidente cerebrovascular isquémico agudo
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Pigretti, Santiago G

; Alet, Matías J

; Mamani, Carlos E

; Alonzo, Claudia

; Aguilar, Martín

; Álvarez, Héctor J

; Ameriso, Sebastián

; Andrade, María G

; Arcondo, Florencia

; Armenteros, Cristian

; Arroyo, José

; Beigelman, Ricardo

; Bonardo, Pablo

; Bres Bullrich, María

; Cabello, Cecilia

; Camargo, Gonzalo

; Camerlingo, Sebastián

; Cárdenas, Rolando

; Cháves, Hernán

; Ciardi, Celina

; Ciarrochi, Nicolas

; Cirio, Juan

; Claverie, Santiago

; Colla Machado, Pedro

; Costilla, Marcelo

; Díaz, María F

; Dossi, Daiana

; Estrella Gimenez, María

; Giber, Fabiana

; Gómez Schneider, Maia

; González, Leonardo

; Hlavnika, Alejandro

; Ioli, Pablo

; Isaac, Cristian F

; Izaguirre, Andrés

; Klein, Francisco

; Kuschner, Pablo

; Lerman, Damián

; López, Rossana

; Marquevich, Victoria

; Miranda, Juan C

; Murgieri, Margarita

; Odzak, Andrea

; Pahnke, Perla

; Persi, Gabriel

; Pizzorno, José

; Pollan, Javier

; Pujol Lereis, Virginia

; Requejo, Flavio

; Robledo, Laura

; Rosales, Julieta

; Rubin, Romina

; Sabio, Rodrigo

; Tejada Jacob, Virginia

; Tumino, Leandro

; Valdez, Pascual

; Videtta, Walter

; Vilela, Andrés

; Villaroel Saavedra, Víctor

; Winkel, Martín

; Zurrú, Maria C

Medicina (Buenos Aires)

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Mai 2019, Volume 79 Supl. 2 Páginas 1 - 46

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

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Characterization of a foodborne outbreak caused by Salmonella Enteritidis in Aracaju, State of Sergipe, Brazil
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Carneiro, Maria Regina Pires

; Cabello, Pedro Hernan

; Albuquerque-Junior, Ricardo Luiz Cavalcanti

; Jain, Sona

; Candido, Alexandre Luna

Revista da Sociedade Brasileira de Medicina Tropical

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Jun 2015, Volume 48 Nº 3 Páginas 334 - 337

Resumo: En | Texto: En | PDF: En

INTRODUCTION: In December 2001, an outbreak of foodborne gastroenteritis infected 114 of 161 people who ate at a restaurant in Aracaju, State of Sergipe, Brazil. METHODS: The epidemiological and microbiological aspects of the outbreak were characterized. RESULTS: Potato salad made with homemade mayonnaise and stored at unsuitable temperatures was associated with increased risk of foodborne infection. Salmonella Enteritidis was isolated from the diarrheal stools of the hospitalized patients, and genotyping of the fecal samples generated identical randomly amplified polymorphic deoxyribonucleic acid (DNA) profiles. CONCLUSIONS : To the best of our knowledge, this is the first and the only record of a gastrointestinal outbreak in Sergipe.

https://doi.org/10.1590/0037-8682-0260-2014 3157 downloads

Human glutathione S-transferase polymorphisms associated with prostate cancer in the Brazilian population
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Sá, Renata Almeida de

; Moreira, Aline dos Santos

; Cabello, Pedro Hernan

; Ornellas, Antonio Augusto

; Costa, Eduardo Butinhão

; Matos, Cintia da Silva

; Alves, Gilda

; Hatagima, Ana

International braz j urol

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Ago 2014, Volume 40 Nº 4 Páginas 463 - 473

Resumo: En | Texto: En | PDF: En

Objective To evaluate the influence of polymorphisms in GSTA1, GSTM1, GSTT1, and GSTP1 in the risk of developing Prostate Cancer (PCa) in a population of Rio de Janeiro and compare the distribution of allele and genotype frequencies of the polymorphisms analyzed in the present study population with other regions in the country and different ethnic groups. Materials and Methods We analyzed a sample of the Brazilian population, comprising 196 patients with PCa treated by the urology services of the Brazilian National Cancer Institute (INCA) and Mario Kroeff Hospital (HMK), and 208 male blood donors from the Clementino Fraga Filho Hospital, Federal University of Rio de Janeiro (UFRJ). The polymorphisms were determined in DNA, extracted from peripheral blood leucocytes using the Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP). Results Our results showed that the distribution of polymorphisms can vary significantly according to the Brazilian region and ethnic groups. The distribution of allele and genotype frequencies of the polymorphism GSTA1 was statistically different between cases and controls. Genotypes (A / B + B / B) were associated with protection (OR = 0.61, 95 % CI = 0.40-0.92) for PCa in comparison to genotype A / A. Conclusion The distribution of genotype frequencies of the polymorphism GSTA1 was statistically different between the case and control groups (p = 0.023), and the presence of genotypes A / B and B / B suggests a protective role against the risk of PCa compared to genotype A / A. This is the first study that reports the genotypic frequency of this polymorphism and its association with PCa in a Brazilian population sample.

https://doi.org/10.1590/S1677-5538.IBJU.2014.04.04 2262 downloads

HLA-A*01 allele: a risk factor for dengue haemorrhagic fever in Brazil's population
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Monteiro, Sérgio Pereira

; Brasil, Pedro Emmanuel Alvarenga Americano do

; Cabello, Giselda Maria Kalil

; Souza, Rogério Valls de

; Brasil, Patrícia

; Georg, Ingebourg

; Cabello, Pedro Hernan

; De Castro, Liane

Memórias do Instituto Oswaldo Cruz

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Mar 2012, Volume 107 Nº 2 Páginas 224 - 230

Resumo: En | Texto: En | PDF: En

Severe forms of dengue, such as dengue haemorrhagic fever (DHF) and dengue shock syndrome, are examples of a complex pathogenic mechanism in which the virus, environment and host immune response interact. The influence of the host's genetic predisposition to susceptibility or resistance to infectious diseases has been evidenced in several studies. The association of the human leukocyte antigen gene (HLA) class I alleles with DHF susceptibility or resistance has been reported in ethnically and geographically distinct populations. Due to these ethnic and viral strain differences, associations occur in each population, independently with a specific allele, which most likely explains the associations of several alleles with DHF. As the potential role of HLA alleles in the progression of DHF in Brazilian patients remains unknown, we then identified HLA-A alleles in 67 patients with dengue fever and 42 with DHF from Rio de Janeiro, Brazil, selected from 2002-2008 by the sequence-based typing technique. Statistical analysis revealed an association between the HLA-A*01 allele and DHF [odds ratio (OR) = 2.7, p = 0.01], while analysis of the HLA-A*31 allele (OR = 0.5, p = 0.11) suggested a potential protective role in DHF that should be further investigated. This study provides evidence that HLA class I alleles might be important risk factors for DHF in Brazilian patients.

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Genetic polymorphisms of NAT2, CYP2E1 and GST enzymes and the occurrence of antituberculosis drug-induced hepatitis in Brazilian TB patients
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Teixeira, Raquel Lima de Figueiredo

; Morato, Renata Gomes

; Cabello, Pedro Hernan

; Muniz, Ligia Mayumi Kitada

; Moreira, Adriana da Silva Rezende

; Kritski, Afrânio Lineu

; Mello, Fernanda Carvalho Queiroz

; Suffys, Philip Noel

; Miranda, Antonio Basilio de

; Santos, Adalberto Rezende

Memórias do Instituto Oswaldo Cruz

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Set 2011, Volume 106 Nº 6 Páginas 716 - 724

Resumo: En | Texto: En | PDF: En

Isoniazid (INH), one of the most important drugs used in antituberculosis (anti-TB) treatment, is also the major drug involved in hepatotoxicity. Differences in INH-induced toxicity have been attributed to genetic variability at several loci, such as NAT2, CYP2E1, GSTM1 and GSTT1, that code for drug-metabolising enzymes. Our goal was to examine the polymorphisms in these enzymes as susceptibility factors to anti-TB drug-induced hepatitis in Brazilian individuals. In a case-control design, 167 unrelated active tuberculosis patients from the University Hospital of the Federal University of Rio de Janeiro, Brazil, were enrolled in this study. Patients with a history of anti-TB drug-induced acute hepatitis (cases with an increase to 3 times the upper limit of normal serum transaminases and symptoms of hepatitis) and patients with no evidence of anti-TB hepatic side effects (controls) were genotyped for NAT2, CYP2E1, GSTM1 and GSTT1 polymorphisms. Slow acetylators had a higher incidence of hepatitis than intermediate/rapid acetylators [22% (18/82) vs. 9.8% (6/61), odds ratio (OR), 2.86, 95% confidence interval (CI), 1.06-7.68, p = 0.04). Logistic regression showed that slow acetylation status was the only independent risk factor (OR 3.59, 95% CI, 2.53-4.64, p = 0.02) for the occurrence of anti-TB drug-induced hepatitis during anti-TB treatment with INH-containing schemes in Brazilian individuals.

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11.

Análise combinada de fatores genéticos e ambientais na hipertensão essencial em um município da região Amazônica
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Freitas, Silvia Regina Sampaio

; Cabello, Pedro Hernan

; Moura-Neto, Rodrigo Soares

; Dolinsky, Luciana Cresta

; Bóia, Marcio Neves

Arquivos Brasileiros de Cardiologia

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Abr 2007, Volume 88 Nº 4 Páginas 447 - 451

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

OBJETIVO: Este estudo avaliou a contribuição de seis polimorfismos genéticos presentes em genes do sistema renina-angiotensina-aldosterona (SRAA) e fatores de risco clínicos para o desenvolvimento da hipertensão arterial essencial em um município da região Amazônica. MÉTODOS: Oitenta e dois indivíduos hipertensos e setenta e oito indivíduos normotensos foram genotipados quanto à presença de polimorfismos REN-G1051A (renina), AGT-M235T (angiotensinogênio), ECA-Alu I/D (enzima conversora de angiotensina I), AGTR1-A1166C (receptor tipo 1 da angiotensina II) e CYP11B2-C344T (aldosterona sintetase) pela técnica de reação em cadeia da polimerase (PCR), com análise de restrição quando necessário. A influência de polimorfismos genéticos e fatores de risco clínicos na variação da pressão arterial foi avaliada por meio de regressão linear stepwise. RESULTADOS: Relatamos a co-ocorrência de fatores de risco clínicos e polimorfismo do gene da enzima conversora de angiotensina (ECA) na população de um município da região amazônica. Nossos resultados mostram que a elevação da pressão arterial sistólica é favorecida pelo alelo D do polimorfismo de inserção/deleção do gene da ECA e pelo aumento da idade, enquanto consumo de bebida alcoólica e envelhecimento estão associados ao aumento da pressão arterial diastólica (PAD). CONCLUSÃO: Esses achados indicam que os moradores de Santa Isabel do Rio Negro que possuem o alelo D da ECA ou têm o hábito de beber apresentam valores mais elevados de PAS e PAD, respectivamente, com o passar dos anos.

OBJECTIVE: In the present study, we evaluated the contribution of six genetic polymorphisms of the Renin-Angiotensis-Aldosterone system (RAAS) and clinical risk factors in the development of essential hypertension in a Brazilian rural population in the Amazon region. METHODS: Eighty-two hypertensive patients and seventy-eight normotensive individuals were evaluated. Genotyping for renin (REN G1051A), angiotensinogen (AGT) M235T, insertion/deletion of angiotensin-converting enzyme (ACE I/D), angiotensin II type 1 receptor (AGTR1) A1166C and aldosterone synthase (CYP11B2) C344T polymorphisms were performed using polymerase chain reaction, with further restriction analysis when required. The influence of genetic polymorphisms and clinical risk factors on blood pressure variation was assessed by stepwise linear regression. RESULTS: We report the co-occurrence of clinical risk factors and angiotensin-converting enzyme (ACE) gene polymorphism in a Brazilian rural population in the Amazon region. Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D- D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP). CONCLUSION: These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.

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12.

Circulation of Campylobacter spp. in rhesus monkeys (Macaca mulatta) held in captivity: a longitudinal study
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Andrade, Márcia Cristina Ribeiro

; Gabeira, Sanny Cerqueira de Oliveira

; Abreu-Lopes, Danielle

; Esteves, Wagner Thadeu Cardoso

; Vilardo, Mônica de Castro Britto

; Thomé, Jacqueline D'arc da Silva

; Cabello, Pedro Hernan

; Lauria-Filgueiras, Ana Luzia

Memórias do Instituto Oswaldo Cruz

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Fev 2007, Volume 102 Nº 1 Páginas 53 - 57

Resumo: En | Texto: En | PDF: En

Campylobacteriosis is an extremely important zoonosis, circulating freely in the environment. In nonhuman primates kept in open facilities and bred for experimental purposes, the presence of Campylobacter spp. could cause severe damage to the production and interfere with the results of scientific research. In this paper, we assessed the circulation of Campylobacter spp. in a colony of clinically healthy rhesus monkeys (Macaca mulatta) destined to research. The analysis was carried out during seven non-consecutive years. Data showed that despite several changes made in animal management along the studied years in order to control this zoonosis, reduction of bacterial charge did not occur. Significant differences among the age groups and sex were observed. Infants showed higher susceptibility than adult animals. In general males were more infected than females. Modifications adopted in the handling techniques need to be reviewed with the intent of improving the production, reducing bacterial infection of the stock and avoiding undesirable cross reactions in the research carried out with these animals. Therefore, this paper alerts professionals that work directly with captive rhesus monkeys about the risks of Campylobacter spp. infection and possible interference on the experimental procedures.

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13.

CYP1A1 and CYP2E1 polymorphism frequencies in a large Brazilian population
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Coura, Renata dos Santos

; Marques, Christiane de Fátima Silva

; Koifman, Rosalina J.

; Koifman, Sergio

; Cabello, Pedro Hernan

; Hatagima, Ana

Genetics and Molecular Biology

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2007, Volume 30 Nº 1 Páginas 1 - 5

Resumo: En | Texto: En | PDF: En

The enzymes encoded by the polymorphic genes CYP1A1 and CYP2E1 play an important role in the activation and inactivation of xenobiotics. These enzymes have been associated with xenobiotic-induced diseases, such as cancer, therapeutic failure and adverse effects of drugs. The aim of the present study was to determine the allelic and genotypic frequencies of these polymorphisms in a large, ethnically mixed Brazilian population sample from Rio de Janeiro. Polymorphisms CYP1A1 and CYP2E1 were determined in 870 unrelated individuals by PCR-RFLP analysis in peripheral blood DNA. The observed allelic frequencies were 0.90 for CYP1A1*1A and 0.95 for CYP2E1*1A, in the total sample. The allelic frequency of CYP1A1*2C in "pardos" (0.13) and Brazilian whites (0.11) was higher than in Caucasians (0.05), which may be a result of the Amerindian genetic component, that presents the highest frequency of this allele observed up to now. The genotype distributions for both polymorphisms were in Hardy-Weinberg equilibrium and were statistically different between males and females, and among ethnic groups.

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14.

Aspects of peridomiciliary ecotopes in rural areas of Northeastern Brazil associated to triatomine (Hemiptera, Reduviidae) infestation, vectors of Chagas disease
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Sarquis, Otília

; Sposina, Ricardo

; Oliveira, Tiago Guedes de

; Mac Cord, José Roberto

; Cabello, Pedro Hernan

; Borges-Pereira, José

; Lima, Marli Maria

Memórias do Instituto Oswaldo Cruz

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Mar 2006, Volume 101 Nº 2 Páginas 143 - 147

Resumo: En | Texto: En | PDF: En

Artificial ecotopes of 121 peridomiciliary environments in four rural localities in the state of Ceará, Brazil, were studied and the type of material of the ecotopes was identified as triatomine infestation. Two thousand two hundred and four Triatoma brasiliensis Neiva, 340 Triatoma pseudomaculata Corrêa and Espínola, 121 Rhodnius nasutus Stall, and 5 Panstrongylus lutzi (Neiva and Pinto) were captured. Out of the 323 ecotopes found (X =2.0 ± 1.8 per dwelling) such as pigpens, henhouses, corrals, perches, dovecotes, piles of roofing tiles, bricks, wood, and straw 30.3% were infested by triatomines in all different developmental stages, including eggs. A substantial number of triatomines were found in perches, however the largest infestation took place in roofing materials used in the construction of goat/sheep corrals, henhouses, and pigpens, where 98% of them were captured: 1372 triatomines were located in the roofing tile covers, 285 in the straw, 187 in the perches, 77 in the coverings of roofing tiles and straw, and 13 in the straw and wood. Among all the different pile of materials, roofing tiles were the most infested (50%) followed by bricks (38.9%) and woods (36.1%). T. brasiliensis colonized mainly brick piles (chi2=16.539; p < 0.05) and roofing tiles (chi2=5,090.58; p < 0.05); T. pseudomaculata preferred wood perches (chi2= 472.39; p < 0.05) and woodpiles (chi2=126.0 p < 0.05), and R. nasutus was principally found in roofing straw (chi2=384.43; p < 0.05). These findings suggest that triatomines tend to colonize peridomiciliary ecotopes similar to their original habitats.

2132 downloads Citado 18 vezes em SciELO

15.

Dificuldades diagnósticas na atrofia muscular espinhal
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Araújo, Alexandra Prufer de Q-C.

; Ramos, Vivianne Galante

; Cabello, Pedro Hernán

Arquivos de Neuro-Psiquiatria

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Mar 2005, Volume 63 Nº 1 Páginas 145 - 149

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

OBJETIVO: Descrever o perfil clínico e laboratorial de pacientes com atrofia muscular espinhal (AME) com deleção no gene da proteína sobrevivência do neurônio motor (SMN). MÉTODO: Estudo descritivo de uma série de casos confirmados pela presença da deleção no gene SMN. Determinação da freqüência da positividade dos critérios clínicos e laboratoriais revisados. RESULTADOS: Foram incluídos no estudo 22 casos. Em todos havia paresia simétrica, sendo a localização difusa predominante nos casos de início antes de 6 meses (75 %), enquanto nos demais havia predominância de localização proximal e/ou em membros inferiores (67 %). Fasciculações e atrofia foram freqüentes (82 %). Os exames complementares tiveram resultados variáveis, sendo a positividade da eletroneuromiografia (ENMG) de 57 % e da biopsia muscular de 58 %. CONCLUSÃO: A presença de deleção no gene SMN pode ajudar a confirmar o diagnóstico de casos indefinidos .

OBJECTIVE: To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion. METHOD: Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria. RESULTS: All of the 22 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 6 months of age (75 %), and either proximal or predominant in lower limbs in the remaining group (67 %). Fasciculations and atrophy were both frequent findings (82 %). Laboratory tests findings were variable, with a positivity of 57 % for electrophysiology and of 58 % for muscle biopsy. CONCLUSION: The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.

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