BRCA1 and BRCA2 mutations in Belgian families with a history of breast and/or ovarian

Certain familial breast and/or ovarian cancers, specially those diagnosed early, are dominantly heritable and have been linked to mutations in BRCA1 and BRCA2 genes. We have tested 30 women selected from 25 different families with specific criteria. Blood samples were always taken with the informed consent and preliminary interview of the patient by a physicologist specialized in presymptomatic testing. Mutation detection were performed by protein truncation test (PTT), gradient gel electrophoresis (DGGE) and subsequent sequencing. The results showed four frameshift mutations among which three induced truncation of the BRCA1 protein and one of the BRCA2 protein. One of the BRCA1 mutations and the only BRCA2 mutation are prevelant among caucasians. Interestingly, one BRCA1 mutation is shared both by Dutch and French families and another one has not yet been reported. Furthermore, a new unclassified varient was identified. Conclusion: by using specific selection criteria, we have been able to detect BRCA mutations in four out of the 25 families tested. One of the mutations seems to be found only in Belgium. Genetic counselling is being offered to their relatives. (C) 1998 Rapid Science Ltd

The role of animals in forest communities

BACKGROUND AND OBJECTIVE: To determine the minimal oxygen delivery and pump flow that can maintain systemic oxygen uptake during normothermic (37 degrees C) pulsatile and non-pulsatile cardiopulmonary bypass in dogs. METHODS: Eighteen anaesthetized dogs were randomly assigned to receive either non-pulsatile (Group C; n = 9) or pulsatile bypass flow (Group P; n = 9). Oxygen delivery was reduced by a progressive decrease in pump flow, while arterial oxygen content was maintained constant. In each animal, critical oxygen delivery was determined from plots of oxygen uptake vs. oxygen delivery and from plots of blood lactate vs. oxygen delivery using a least sum of squares technique. Critical pump flow was determined from plots of lactate vs. pump flow. RESULTS: At the critical point, oxygen delivery obtained from oxygen uptake was 7.7 +/- 1.1 mL min(-1) kg(-1) in Group C and 6.8 +/- 1.8 mL min(-1) kg(-1) in Group P (n.s.). These values were similar to those obtained from lactate measurements (Group C: 7.8 +/- 1.6 mL min(-1) kg(-1); Group P: 7.6 +/- 2.0 mL min(-1) kg(-1)). Critical pump flows determined from lactate measurements were 55.6 +/- 13.8 mL min(-1) kg(-1) in Group C and 60.8 +/- 13.9 mL min(-1) kg(-1) in Group P (n.s.). CONCLUSIONS: Oxygen delivery values greater than 7-8 mL min(-1) kg(-1) were required to maintain oxygen uptake during normothermic cardiopulmonary bypass with either pulsatile or non-pulsatile blood flow. Elevation of blood lactate levels during bypass helps to identify inadequate tissue oxygen delivery related to insufficient pump flo