ABSTRACT
The BRCAPRO, Couch, Myriad I and II, Ontario Family History Assessment Tool (FHAT), and Manchester models have been used to predict BRCA1 or BRCA2 mutation carrier status of women at high risk for developing the heritable form of breast and ovarian cancers. We have evaluated these models for their accuracy in classifying 224 French Canadian families with at least three cases of breast cancer (diagnosed before the age of 65 years), ovarian cancer, or male breast cancer where mutation status was known for an index affected case used to assess the model. This series includes 44 BRCA1 and 52 BRCA2 mutation-positive families. Using receiver operator characteristics analyses, the C-statistics were found to be 0.81, 0.80, 0.79, and 0.74 for the BRCAPRO, FHAT, Manchester, and Myriad II models, respectively, when incorporating both BRCA1 and BRCA2 mutation carrier predictions. For the BRCAPRO model, 75% scored greater than a 0.43 probability in the mutation-positive group and 75% scored less than 0.50 in the mutation-negative group. Only 38 of 128 (30%) mutation-negative group had a probability greater than 0.43 with the BRCAPRO model. While all models were highly predictive of carrier status, the BRCAPRO model was the most accurate where a cut-off of 10% would have eliminated 60 of 128 (47%) mutation-negative families for genetic testing and only miss 10 of 96 (10%) mutation-positive families. A review of the cancer phenotypes with high BRCAPRO probabilities showed that significantly more metachronous bilateral breast cancer cases occurred in BRCA1/2 mutation carrier families in comparison to mutation-negative families, a feature which is not discriminated in the BRCAPRO model.
Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Models, Genetic , Ovarian Neoplasms/genetics , Breast Neoplasms/ethnology , Breast Neoplasms, Male/ethnology , Breast Neoplasms, Male/genetics , Canada , Female , Genetic Predisposition to Disease/ethnology , Germ-Line Mutation , Humans , Male , Middle Aged , Ovarian Neoplasms/ethnology , Pedigree , Probability , Quebec , ROC CurveABSTRACT
BACKGROUND: Although the connection between diet, lifestyle and hormones suggests that nutritional and lifestyle factors may exert an influence in the etiology of breast cancer (BC), it is not clear whether these factors operate in the same way in women with BRCA1 and BRCA2 (BRCA) gene mutations who already have an elevated BC risk. METHODS: A case-control study was conducted within a cohort of 80 French-Canadian families with 250 members involving 89 carriers of mutated BRCA gene affected with BC and 48 non-affected carriers. A validated semi-quantitative food frequency questionnaire was used to ascertain dietary intake, and a lifestyle core questionnaire, to gather information on physical activity and other lifestyle risk factors. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in unconditional logistic regression models. RESULTS: After adjustment for age, maximum lifetime body mass index (BMI) and physical activity, a positive association was found between total energy intake and BRCA-related BC risk. OR was 2.76 (95%CI: 1.10-7.02; p=0.026 for trend), when comparing the highest tertile of intake with the lowest. The intake of other nutrients and dietary components was not significantly associated with the risk of BC. Age at the time the subjects reached maximum BMI was significantly related to an elevated BC risk (OR=2.90; 95%CI: 1.01-8.36; p=0.046 for trend). In addition, a direct and significant relationship was noted between maximum weight gain since both age 18 and 30 years and BC risk. The ORs were 4.64 (95%CI: 1.52-14.12; p=0.011 for trend) for weight gain since age 18 years and 4.11 (95%CI: 1.46-11.56; p=0.013 for trend) for weight gain since age 30 years, respectively. No overall association was apparent between BRCA-related BC risk and BMI, smoking, and physical activity. CONCLUSION: The results of this preliminary study suggest that weight control in adulthood through dietary energy intake restriction is an important factor for the prevention of BRCA-related BC risk.
Subject(s)
Breast Neoplasms/genetics , Diet , Genes, BRCA1 , Genes, BRCA2 , Mutation , Body Mass Index , Breast Neoplasms/diagnosis , Breast Neoplasms/ethnology , Breast Neoplasms/pathology , Canada , Case-Control Studies , Cohort Studies , Female , Humans , Life Style , Odds Ratio , Risk , Risk FactorsABSTRACT
En este estudio se evaluó el diagnóstico de la leishmaniasis cutánea por el laboratorio mediante la técnica de la Reacción en Cadena de la Polimerasa (PCR) en comparación con los métodos actualmente recomendados: examen microscópico en frotis, cultivo en medio específico e histopatología en biopsia. El estudio se realizó en 72 individuos con lesiones cutáneas sospechosas de infección por Leishmania spp., procedentes del cnatón El Carmen, provincia de Manabí, Ecuador. La PCR, con oligonucleótidos específicos para el complejo braziliensis fue más sensitiva (90.9 por ciento) que cualquiera de los otros 3 métodos empleados. el cultivo en medio Novy-MacNeal-Nicolle (NNN), en el que 19 por ciento de muestras de desecharon por contaminación bacteriana o micótica, alcanzó el 45.5 por ciento de sesitividad...
Subject(s)
Leishmaniasis, Cutaneous/diagnosis , Polymerase Chain Reaction , EcuadorABSTRACT
Se estudió la sensibilidad de la vía auditiva a través del registro de los potenciales auditivos de tallo cerebral en 10 anfibios sanos de la especie Rana catesbiana. Las respuestas auditivas se efectuaron a 70, 50, 40 y 30 dB NA, en dos grupos de diferente peso. El primero de 17 a 27 gr y el otro grupo de 36 a 86.5 gr, los electrodos fueron insertados subcutáneamente y la estimulación fue por clicks en campo libre dentro de una cámara sonoamortiguada. A 70 dB las respuestas fueron de dos ondas en los primeros milisegundos, a 50 dB la onda II se separó en dos subcomponentes (IIa y IIb). El umbral electrofisiológico se estableció en 40 dB
Subject(s)
Animals , Female , Auditory Threshold/radiation effects , Evoked Potentials, Auditory, Brain Stem/radiation effects , Methods , Rana catesbeiana/anatomy & histologyABSTRACT
Eleven placentas from seropositive women for HIV, were analyzed. In three cases the material came from first trimester abortions and the other eight from term pregnancies. In five cases retroviruses were identified, similar to HIV in the placental tissue. It was demonstrated for the first time the internalization of a retrovirus and its presence in the syncytiotrophoblast. It is communicated for the first time the presence of one cell in the placental stroma different to Hofbauer's by its granules type.
Subject(s)
HIV Infections/pathology , HIV Seropositivity , Placenta/microbiology , Pregnancy Complications, Infectious/microbiology , Apgar Score , Female , Gestational Age , HIV/isolation & purification , Humans , Infant, Newborn , Male , Maternal-Fetal Exchange , Microscopy, Electron , Placenta/ultrastructure , Pregnancy , Trophoblasts/ultrastructureABSTRACT
PIP: Transmission of human immunodeficiency virus (HIV) from an infected mother to the fetus has been shown to occur. The route of infection is probably through the placenta, yet the exact mechanism of how this occurs is still unclear. Researchers in Mexico report in this article their findings on placental tissue taken from 9 HIV-seropositive women. The placentas from new deliveries were sectioned and the tissue fixed and embedded in plastic. Thin sections were cut, stained, and examined using transmission electron microscopy (TEM). HIV-like particles were found near or inside the trophoblastic villi in 4 placental specimens examined. In one case these particles were found in the endothelium of the umbilical artery. Mast-like cells were found in the free villous stroma in 2 tissue samples. Vertical transmission of HIV has been a major source of HIV infections in Europe and the US. On the other hand, Mexico doesn't report similar findings. The authors suggest that this is the case because of lower female drug use. It is still unclear why some babies from HIV-seropositive mothers become infected while others do not.^ieng