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Distribution of the CCR2-64I allele in three Brazilian ethnic groups
Acosta, Angelina Xavier;Sampaio, Rogério Grimaldi;Spínola, Juliana Lima;Galv？o-Castro, Bernardo;
Genetics and Molecular Biology , 2003, DOI: 10.1590/S1415-47572003000300004
Abstract: ccr2 is a member of the superfamily of seven transmembrane domain g protein-coupled receptors, the largest receptor superfamily in the human genome. ccr2 acts as a receptor for mcp-1 (cc chemokine) and as a co-receptor for hiv-1 cell-target entry. the gene encoding this receptor is mapped to the chromosome band 3p21. a g-to-a transition at position 190 characterizes the ccr2-64i mutation, causing valine to isoleucine substitution in codon 64. this mutation has been identified as an important factor for delaying progression to aids. here, we determined the prevalence of this allele in three different brazilian populations: 261 amerindians inhabiting an isolated region in northern brazil (82 samples from the waiampi tribe, and 179 samples from the tiriyó tribe); 89 german descendents from joinville, a city in southern brazil; and 305 individuals of predominantly african ancestry, from salvador, a city in northeast brazil. the ccr2-64i mutant allele was identified in 26% of the tiryió and 30% of waiampi samples, in 18% of the joinville samples, and in 14% of the salvador samples.
Exposición laboral a hongos en una planta de procesamiento de café
Alonso Espadalé,Rosa María; Solans Lampurlanés,Xavier; Constans Aubert,Angelina;
Medicina y Seguridad del Trabajo , 2008, DOI: 10.4321/S0465-546X2008000200005
Abstract: the green coffee, depending on the treatment that receives after the crop can reach the processing plants contaminated by fungi. this exposure may produce some effects on the workers health, causing allergic reactions and respiratory diseases. objectives: the aim of this study was to determinate the fungi concentrations which are exposed to the workers in the different operations that are done in a coffee processing plant. materials and methods: the environmental samples were obtained by plate impactation with the m air t millipore sampler. there was determined total fungi concentration and predominant fungi were identified. results: airbone fungal concentrations higher than 12000 ufc/m3 have been found over coffee beans unloading operations. the fungi genera identified were aspergillus (a. flavus, a. niger y a. ochraceus), fusarium, moniliella, mucor, rhizopus, scopulariopsis and syncephalastrum racemosum. conclusions: workers at coffee processing plants may be exposed to high environmental fungi concentrations during coffee beans unloading operations. furthermore, due to the presence of toxigenic fungi species, a potential exposure to the mycotoxins produced by these fungi may not be dismissed.
Achados oculares em pacientes com mucopolissacaridoses
Villas-B？as, Flávia Silva;Fernandes Filho, Dilson José;Acosta, Angelina Xavier;
Arquivos Brasileiros de Oftalmologia , 2011, DOI: 10.1590/S0004-27492011000600010
Abstract: purpose: the objective of this study was to determine the prevalence and severity of ocular complications in patients with mucopolysaccharidosis (mps). methods: twenty-nine patients with diagnosis of mucopolysaccharidosis were studied. age, gender, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, central corneal thickness and ocular echography were assessed for each individual. results: there were three patients with mps i (12%), eleven patients with mps ii (37.9%), one patient with mps iii (3.4%) and fourteen patients with mps vi (48.3%). mean age was 9.5 years (ranged from 1.2 to 20 years, dp 5.5). refraction was available in 26 patients, from which 88.5% (23 patients) were hyperopic, and 53.8% (14 patients) presented astigmatism. best corrected visual acuity was available in 18 patients and the mean was 0.45 logmar (dp 0.68). the mean spherical equivalent was +3.57 d (sd 2.46) and intraocular pressure was 17 mmhg (sd 3.9). the most common findings were: eyelid thickening in 24.1% (7 patients); corneal opacity in 55.2% of cases (16 patients); optic nerve atrophy in 23.1% (6 patients); and radial folds in the retina in 24% (7 patients). the fundus was examined in 26 out of 29 patients because corneal opacity avoided the exam in 3 of them. the average thickness of the complex sclera-retina-choroid (src was 1.78 mm (sd 0.51). conclusion: the most prominent ophthalmologic findings were eyelid thickening, decreased visual acuity, high hyperopia, corneal opacity, perimacular radial folds in the retina and optic nerve atrophy.
Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
Steiner, Carlos Eduardo;Acosta, Angelina Xavier;Guerreiro, Marilisa Mantovani;Marques-de-Faria, Antonia Paula;
Arquivos de Neuro-Psiquiatria , 2007, DOI: 10.1590/S0004-282X2007000200003
Abstract: we describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (pku) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. homozygosity for the ivs10nt11g/a (ivs10nt546) was found in all. this is the first report of molecular findings in subjects with pku also presenting with autistic features. the authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated pku individuals.
Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia
Amorim, Tatiana;Boa-Sorte, Ney;Leite, Maria Efigênia Q;Acosta, Angelina Xavier;
Revista Paulista de Pediatria , 2011, DOI: 10.1590/S0103-05822011000400022
Abstract: objective:to describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the neonatal screening reference service of bahia, brazil. method:cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. results: the incidence of hyperphenylalaninemia in bahia was one case per 16,334 live births, covering 91% of them. among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. the classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. among those screened, the median age at first consultation was 39.5 days. among the patients, 34% had symptoms at the first medical consultation, none of them with delayed neurodevelopment. consanguinity was reported in 32% of patients. affected individuals were predominantly classified as white (63%). the parents had low education and low income. among the 417 municipalities of bahia, 15% had at least one case, with a concentration in the northeast (10%) and in the capital of the state (14%). conclusions: the results showed elevated age at the beginning of the treatment, which may compromise the program results. presence of consanguinity and familial recurrence were also noted. careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.
Distribution of the CCR2-64I allele in three Brazilian ethnic groups
Acosta Angelina Xavier,Sampaio Rogério Grimaldi,Spínola Juliana Lima,Galv？o-Castro Bernardo
Genetics and Molecular Biology , 2003,
Abstract: CCR2 is a member of the superfamily of seven transmembrane domain G protein-coupled receptors, the largest receptor superfamily in the human genome. CCR2 acts as a receptor for MCP-1 (CC chemokine) and as a co-receptor for HIV-1 cell-target entry. The gene encoding this receptor is mapped to the chromosome band 3p21. A G-to-A transition at position 190 characterizes the CCR2-64I mutation, causing valine to isoleucine substitution in codon 64. This mutation has been identified as an important factor for delaying progression to AIDS. Here, we determined the prevalence of this allele in three different Brazilian populations: 261 Amerindians inhabiting an isolated region in northern Brazil (82 samples from the Waiampi tribe, and 179 samples from the Tiriyó tribe); 89 German descendents from Joinville, a city in southern Brazil; and 305 individuals of predominantly African ancestry, from Salvador, a city in northeast Brazil. The CCR2-64I mutant allele was identified in 26% of the Tiryió and 30% of Waiampi samples, in 18% of the Joinville samples, and in 14% of the Salvador samples.
Exposición laboral a hongos en una planta de procesamiento de café
Rosa María Alonso Espadalé,Xavier Solans Lampurlanés,Angelina Constans Aubert
Medicina y Seguridad del Trabajo , 2008,
Abstract: El café verde, en función del tratamiento que recibe después de la cosecha, puede llegar a las plantas de procesamiento contaminado por hongos, pudiendo producir efectos sobre la salud de los trabajadores que manipulan café, principalmente en forma de reacciones alérgicas y enfermedades respiratorias. Objetivos: El objetivo de este estudio es determinar la concentración ambiental de hongos a los que están expuestos los trabajadores en las diferentes operaciones que se realizan en una planta de procesamiento de café. Material y métodos: Las muestras ambientales se obtuvieron por el método de impactación en placa con el equipo M Air T de Millipore. Se determinó la concentración de hongos totales y se identificaron los géneros fúngicos mayoritarios. Resultados: Se ha obtenido una concentración fúngica ambiental superior a 12000 ufc/m3 durante las operaciones de descarga del café. Los géneros mayoritarios identificados han sido Aspergillus (A. flavus, A. niger y A. ochraceus), Fusarium, Moniliella, Mucor, Rhizopus, Scopulariopsis y Syncephalastrum racemosum. Conclusión: Los trabajadores de las plantas de procesamiento de café pueden estar expuestos a elevadas concentraciones ambientales de hongos durante las operaciones de descarga del café. Además, debido a la presencia de especies fúngicas toxigénicas, no se puede descartar una potencial exposición a las micotoxinas producidas por estos hongos. The green coffee, depending on the treatment that receives after the crop can reach the processing plants contaminated by fungi. This exposure may produce some effects on the workers health, causing allergic reactions and respiratory diseases. Objectives: The aim of this study was to determinate the fungi concentrations which are exposed to the workers in the different operations that are done in a coffee processing plant. Materials and methods: The environmental samples were obtained by plate impactation with the M Air T Millipore sampler. There was determined total fungi concentration and predominant fungi were identified. Results: Airbone fungal concentrations higher than 12000 ufc/m3 have been found over coffee beans unloading operations. The fungi genera identified were Aspergillus (A. flavus, A. niger y A. ochraceus), Fusarium, Moniliella, Mucor, Rhizopus, Scopulariopsis and Syncephalastrum racemosum. Conclusions: Workers at coffee processing plants may be exposed to high environmental fungi concentrations during coffee beans unloading operations. Furthermore, due to the presence of toxigenic fungi species, a potential exposure to the mycotoxins produced by t
Modelling the Impact of Stages of HIV Progression on Estimates  [PDF]
Angelina Mageni Lutambi
Advances in Infectious Diseases (AID) , 2015, DOI: 10.4236/aid.2015.53012
Abstract: HIV/AIDS is a public health problem especially in sub-Saharan Africa where majority of infections and deaths occur. Despite the large number of studies and efforts made in covering the data gap using mathematical models, little is known on how model estimates are confounded by the transmission variabilities that exist in stages of HIV progression. This work investigates the impact of including stages of HIV transmission in HIV/AIDS models. A deterministic HIV/AIDS model is developed and extended to include stages of HIV progression of infected individuals. Theoretical investigation of the models and numerical analyses indicate that the two models produce different estimates, with the model without stages producing lower estimates than the staged model. These results call for a careful consideration in evaluating the efficiency of HIV/AIDS models that are used to estimate and project the burden of HIV/AIDS disease.
Study of the CCR5-m303 mutation in three different ethnic groups from Brazil
Grimaldi, Rogério;Acosta, Angelina Xavier;Cabral-Oliveira, Fernando Cézar;Brites, Carlos;Galv？o-Castro, Bernardo;
Genetics and Molecular Biology , 2005, DOI: 10.1590/S1415-47572005000200006
Abstract: the main coreceptor gene involved in hiv-1 infection is ccr5 b chemokine receptor gene for which several mutations have been described, some of which have correlated with hiv-1 infection, acquired immune deficiency syndrome (aids), or both. deletion of 32bp in the ccr5 gene (d32) has been shown to confer resistance to infection by hiv-1 r5 strains. another mutation, characterized by a thymine to adenine (t to a) nucleotide substitution at position 303 (m303), has shown the same effects as the d32 mutation, with previous studies having shown that the allele frequency of the ccr5-m303 mutation is 0.014 in african-american and 0.007 in french populations. the brazilian population is known to be genetically diverse, because of which we investigated the allele frequency of the ccr5-m303 mutation in three different brazilian ethnic groups containing individuals who were not infected with hiv-1 and also in a cohort of hiv-1 long-term non-progressors. we used the polymerase chain reaction (pcr) and hincii restriction fragment length polymorphisms (rflp) to investigate these populations and found that none of the 566 individuals examined the mutant ccr5-m303 allele. these results are in accordance with the previously reported allelic frequencies for african-american and caucasian populations and may reflect the real prevalence of the m303 mutation in brazil.
A importancia da avalia？？o otorrinolaringológica de pacientes com mucopolissacaridose
Bicalho, Cibele Gomes;Rezende, Morena Morais;Nogueira, Ana Maria Carrilho Moinhos;Paulon, Roberta Melo Calvoso;Acosta, Angelina Xavier;
Arquivos Internacionais de Otorrinolaringologia , 2011, DOI: 10.1590/S1809-48722011000300004
Abstract: introduction: mucopolysaccharidosis (mps) is a group of rare diseases caused by the deficit of lysosomal enzymes, causing an accumulation of glycosaminoglycans (gag) in organs and tissues responsible for the multi-systemic clinical, chronic and progressive status. objective: describe the profile of the otorhinolaryngologic clinical evaluation in patients submitted to enzyme replacement therapy (ert) and suggest an algorithm to otorhinolaryngolgically follow up with these patients. method: a study with a number of cases was performed, including 21 patients having mps i, ii and vi. results: the most common otorhinolaryngological complaints were nasal obstruction, snore, and mouth-breathing. apnea was reported in 31% of the cases. in the physical examination, macroglossia was the main alteration (41%) of oral pharyngoscopy. at otoscopy, the retraction of the tympanic membrane was found in 33% and hearing loss was found in 45%. conclusion: it is important to evaluate the complaints, physical examination and the impact of alterations associated with mps-produced breathing and hearing, for purposes of better following up with these patients and preventing consequential chronic alterations such as hearing loss, sleep disorder, and mouth breathing, thus, enhancing these patients' quality of life.
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