Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.

Copy number of P elements, KP/full-sized P element ratio and their relationships with environmental factors in Brazilian Drosophila melanogaster populations

The P transposable element copy numbers and the KP/full-sized P element ratios were determined in eight Brazilian strains of Drosophila melanogaster. Strains from tropical regions showed lower overall P element copy numbers than did strains from temperate regions. Variable numbers of full-sized and defective elements were detected, but the full-sized P and KP elements were the predominant classes of elements in all strains. The full-sized P and KP element ratios were calculated and compared with latitude. The northernmost and southernmost Brazilian strains showed fewer full-sized elements than KP elements per genome, and the strains from less extreme latitudes had many more full-sized P than KP elements. However, no clinal variation was observed. Strains from different localities, previously classified as having P cytotype, displayed a higher or a lower proportion of KP elements than of full-sized P elements, as well as an equal number of the two element types, showing that the same phenotype may be produced by different underlying genomic components of the P-M system.

HB D Los Angeles in a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Molecular screening of Plasmodium sp. asymptomatic carriers among transfusion centers from Brazilian Amazon region

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

IL-1ra anti-inflammatory cytokine polymorphism is associated with risk of gastric cancer and chronic gastritis in a Brazilian population, but the TNF-beta pro-inflammatory cytokine is not

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Cytogenetic characterization reveals differences in nuclear organization of cystic cells among Brazilian species of Triatoma (Heteroptera, Reduviidae)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Isolation and molecular identification of wine yeasts from a Brazilian vineyard

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Pectinase production by a Brazilian thermophilic fungus Thermomucor indicae-seudaticae N31 in solid-state and submerged fermentation

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Polymorphisms of the TLR2 and TLR4 genes are associated with risk of gastric cancer in a Brazilian population

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The prevalence of human papillomavirus in the oropharynx in healthy individuals in a Brazilian population

Oncogenic human papillomavirus (HPV), a causative agent of uterine cervical cancer, has also been detected in head and neck squamous cell cancers, especially in squamous cell carcinomas of the tonsils. However, the true HPV prevalence in normal and neoplasic oropharyngeal mucosa remains uncertain. To determine the prevalence of HPV DNA in normal oropharyngeal mucosa of cancer-free individuals, a study was carried out on 50 Brazilian subjects. PCR was performed to identify HPV DNA in samples from four sites in the oropharynx (tonsils, soft palate, base of the tongue, and back wall of the pharynx). For amplification of the HPV DNA, MY09/11 consensus primerswere used, and specific genotypes were identified by dot-blot hybridization or cloning and sequencing. HPV DNA was present in 14.0% of the individuals, and the identified genotypes were 16, 18, 52, and 61. All these types are considered high-risk (HR) HPV. The tonsils and the soft palate were the sites with the highest HPV prevalence. This study shows the prevalence of HR HPV in the oropharynx of normal individuals. However, the prevalence of HPV is still unclear, and if HPV infection in a healthy it is not known individual predisposes to HPV-associated disease such as oropharyngeal cancer. Thus, it is important to assess the prevalence of HPV in cancer-free individuals, in order to compare it with the HPV prevalence in oropharyngeal carcinomas and to attempt to determine the true role of HPV in the development of head and neck squamous cell cancers. (c) 2006 Wiley-Liss, Inc.

An epidemiologic study of headaches in brazilian schoolchildren with a focus on pain frequency

O objetivo deste estudo foi avaliar a prevalência e frequência de cefaléia em escolares brasileiros. Um estudo transversal foi conduzido entre Março e Novembro de 2004 em São José do Rio Preto, Estado de São Paulo, Brasil. Uma amostra de 5.232 crianças das escolas foi selecionada utilizando método de amostragem estratificada proporcional. Para a coleta dos dados, um questionário foi entregue nas escolas aos estudantes para ser respondida pelos pais e/ou responsáveis. do total de respostas recebidas, 84,2% relataram cefaléia durante o último ano. Houve diferenças significativas na frequência da queixa de cefaléia entre meninos e meninas. As meninas relataram cefaléias mais frequentes do que os meninos, com prevalência de cefaléias diárias duas vezes maior em meninas. Uma maior frequência de cefaléia foi também relatada com o aumento da idade. O estudo demonstrou que a prevalência de cefaléia foi alta, com uma maior frequência (mensais, semanais e diárias) em meninas e no grupo etário mais velho.

Effect of grape pre-drying and static pomace contact on physicochemical properties and sensory acceptance of Brazilian (Bordo and Isabel) red wines

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Fatty acids and bioactive compounds of the pulps and kernels of Brazilian palm species, guariroba (Syagrus oleraces), jeriva (Syagrus romanzoffiana) and macauba (Acrocomia aculeata)

BACKGROUND: Bioactive compounds are capable of providing health benefits, reducing disease incidence or favoring body functioning. There is a growing search for vegetable oils containing such compounds. This study aimed to characterize the pulp and kernel oils of the Brazilian palm species guariroba (Syagrus oleracea), jeriva (Syagrus romanzoffiana) and macauba (Acrocomia aculeata), aiming at possible uses in several industries.RESULTS: Fatty acid composition, phenolic and carotenoid contents, tocopherol composition were evaluated. The majority of the fatty acids in pulps were oleic and linoleic; macauba pulp contained 526 g kg(-1) of oleic acid. Lauric acid was detected in the kernels of all three species as the major saturated fatty acid, in amounts ranging from 325.8 to 424.3 g kg(-1). The jeriva pulp contained carotenoids and tocopherols on average of 1219 mu g g(-1) and 323.50 mg kg(-1), respectively.CONCLUSION: The pulps contained more unsaturated fatty acids than the kernels, mainly oleic and linoleic. Moreover, the pulps showed higher carotenoid and tocopherol contents. The kernels showed a predominance of saturated fatty acids, especially lauric acid. The fatty acid profiles of the kernels suggest that these oils may be better suited for the cosmetic and pharmaceutical industries than for use in foods. (C) 2011 Society of Chemical Industry