Green Tobacco Sickness among Brazilian farm workers and genetic polymorphisms.

Objective: Green Tobacco Sickness (GTS) is an occupational illness caused by dermal absorption of nicotine from tobacco leaves. It affects thousands of farm workers worldwide. Brazil is the second tobacco producer in the world; despite this, there are few studies on GTS among Brazilian harvesters.

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

Neurofibromatosis 1 (NF1) is one of the most common genetic disorders and is caused by mutations in the gene. gene mutational analysis presents a considerable challenge because of its large size, existence of highly homologous pseudogenes located throughout the human genome, absence of mutational hotspots, and diversity of mutations types, including deep intronic splicing mutations. We aimed to evaluate the use of hybridization capture-based next-generation sequencing to screen coding and noncoding regions.

A segment of rbcL gene as a potential tool for forensic discrimination of Cannabis sativa seized at Rio de Janeiro, Brazil.

Cannabis sativa, known by the common name marijuana, is the psychoactive drug most widely distributed in the world. Identification of Cannabis cultivars may be useful for association to illegal crops, which may reveal trafficking routes and related criminal groups. This study provides evidence for the performance of a segment of the rbcL gene, through genetic signature, as a tool for identification for C.

Epidermal growth factor receptor gene polymorphisms are associated with prognostic features of breast cancer.

Background: The epidermal growth factor receptor (EGFR) is differently expressed in breast cancer, and its presence may favor cancer progression. We hypothesized that two EGFR functional polymorphisms, a (CA)n repeat in intron 1, and a single nucleotide polymorphism, R497K, may affect EGFR expression and breast cancer clinical profile.

Methods: The study population consisted of 508 Brazilian women with unilateral breast cancer, and no distant metastases.

Evaluation of Bcl-2, Bcl-x and cleaved caspase-3 in malignant peripheral nerve sheath tumors and neurofibromas.

Aims: To study the expression of Bcl-2, Bcl-x, as well the presence of cleaved caspase-3 in neurofibromas and malignant peripheral nerve sheath tumors. The expression of Bcl-2 and Bcl-x and the presence of cleaved caspase 3 were compared to clinicopathological features of malignant peripheral nerve sheath tumors and their impact on survival rates were also investigated.

Materials And Methods: The evaluation of Bcl-2, Bcl-x and cleaved caspase-3 was performed by immunohistochemistry using tissue microarrays in 28 malignant peripheral nerve sheath tumors and 38 neurofibromas.

[Endometrial osseous metaplasia: clinical presentation and follow-up].

Purpose: to describe the clinical signs and symptoms of patients with bone metaplasia and to assess the risk factors for changes in these symptoms after removal of the bone fragment.

Methods: a cross-sectional study was conducted on 16 patients with a diagnosis of bone fragments in the uterine cavity during the period comprising July 2006 to January 2009. The inclusion criterion was the detection of a bone fragment removed from the uterine cavity.

Genetic analysis of the cause of endometrial osseous metaplasia.

Objective: To analyze solitary bone fragments from the uterine cavity through DNA genotyping, thus elucidating whether they originate from metaplasia, from previous abortion, or both.

Methods: We conducted a case series study on 14 patients, of whom eight yielded bone DNA. The patients selected had histopathologic diagnoses of bone fragments inside the uterine cavity or previously removed samples available for analysis.

Genetic data on 15 STR autosomal loci for a sample population of the Northern Region of the State of Rio de Janeiro, Brazil.

Allele frequencies data, paternity and forensic parameters for 15 autosomal short tandem repeat (STR) autosomal markers (D8S1179, D21S11, D7S820, CSF1PO, D5S818, D3S1358, TH01, D13S317, D16S539, D2S1338, TPOX, D19S433, vWA, D18S51, FGA) were determined for a sample of 494 unrelated individuals undergoing kinship analysis and molecular cytogenetic testing from the population of the city of Campos dos Goytacazes, Northern State of Rio de Janeiro, Brazil. The loci with the highest polymorphism information content were D18S51 (0.874), D2S1338 (0.

Genetic data on 12 STRs (F13A01, F13B, FESFPS, LPL, CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317, D5S818) from four ethnic groups of São Paulo, Brazil.

Allelic frequencies for 12 short tandem repeats (STRs) (F13A01, F13B, FESFPS, LPL, CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317 and D5S818) were estimated, also as forensic parameters, from a sample of 916 unrelated Brazilian subjects classified into four ethnic groups: European-derived, African-derived, Brazilian Mulattos and Asian-derived.

DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.

Approximately 30% of Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene and it is difficult to identify single nucleotide variations in genomic DNA using current diagnostic techniques. This represents a great obstacle in genetic analysis of these patients and genetic counselling of their families. In this work we performed denaturing gradient gel electrophoresis analysis to search for Duchenne muscular dystrophy mutations.