Der p 1 and Der p 2 are dominant allergens in our population and there may be benefits in determining these molecular allergen levels in patients with a positive prick-test and a clinical indication for sIT prior to a decision of initiating sIT or not.
Introduction and objectives- A positive result after BRCA1/2 screening can represent a difficult psychological experience. Previous studies have shown that the psychological outcomes following BRCA1/2 testing vary according to the previous individual and family experiences of each person. Objectives of this study were to measure the distress caused by the disclosure of a positive BRCA1/2 test result and to analyse the degree of BRCA1/2 carriers retention of information, transmitted at the post-test counselling interview. Material and Methods-This is a prospective study. All consecutive individuals with a BRCA1/2 positive test were invited to participate, after the post-test counselling visit. Participation involved signing an informed consent form and agreeing to a structured post-test phone interview, one week and one month after disclosure of the test result. Phone interviews were done by nurses trained by the Psychological Unit of our centre. Measure instruments: 1) Emotional thermometer (ET) - analogical scale ranging from 0 (no distress) to 10 (maximum distress), measures distress during the previous week 2) Distress questionnaire (DQ)- 13 items to evaluate depression, anxiety and loss of emotional control, with a global score ranging from 3 (no distress) and 45 (maximum distress). 3) Knowledge of disease status and understanding of the individualized risk management plan- additional 4 items included at the end of DQ. Subgroup analysis was performed according to age, sex, previous cancer diagnosis and offspring existence using Wilcoxon rank sum test with continuity correction. Results-From 177 eligible carriers, 28 were not included (14 for logistical reasons; 2 deaths; 1 refused; 3 progressive symptomatic disease ). A total of 149 carriers were included: 120 women (81%) and 29 men (19%); median age 43 yrs (21-74); 67 (45%) with a previous cancer diagnosis and 82 (55%) healthy at risk; 42 (28%) had no offspring and 102 (68%) were professionally active. The mean distress scores were 3.07 (SD 2.72) and 20.13 (SD 7.88) for ET and DQ instruments, respectively. Using the NCCN (2013) guidelines for ET classification, we found that 95 (64%) of our carriers did not have clinically significant distress. For the DQ (using a cut-off <20) this proportion decreased to 54% (81 pts). Subgroup analysis: A statistically significant difference was found with both ET and DQ for higher distress levels in women than men (p=0.006 and p<0.001, respectively). There was no difference in either measure for age (≤ 50yrs vs > than 50yrs), previous cancer diagnosis or with vs no offspring. Levels of knowledge and understanding of individual risk management were high (average 18.7; maximum 20) and no correlation was found with distress levels. Twenty-eight (19%) carriers were found in need of specialized psychological/psychiatric support and were appropriately referred. Conclusions-In our BRCA1/2 carrier population clinically significant distress was not frequent and only 19% needed specialized psychological/psychiatric support. Distress was higher in women than in men. Retention of information given during counselling was high, and there was no correlation between information retention and distress levels. Citation Format: Joana Parreira, Susana Esteves, Fatima Vaz, Carla Simões, Paula Rodrigues, Ana Luis, Ana Clara, Sandra Bento, Maria Jesus Moura. Distress as a measure of the psychological impact after disclosure of a BRCA1/2 positive test result [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P4-12-14.
A deletion/insertion polymorphism (4G or 5G) in the promoter of the PAI-1 gene has been suggested to be involved in regulation of the synthesis of the inhibitor, the 4G allele being associated with enhanced gene expression, and therefore related with thrombosis. In the present work we studied the prevalence of 4G/5G polymorphism in 223 unrelated patients with history of objectively confirmed thromboembolism, and in 162 healthy unrelated controls, both groups natural from all centre regions of Portugal. In this normal cohort, the prevalence of 4G/4G is 23%, 4G/5G is 38% and 5G/5G is 39%; in the affected population is, respectively, 47%, 21.5% and 30%, which means that 4G/4G is twice more frequent in the patients with thrombosis. When we relate the age of the first thrombosis episodes in the three groups, we find no significative difference, as the respective media is 36.8; 38.6 and 35.5 years in the 4G/4G, 4G/5G and 5G/5G group, respectively. This data suggest that this polymorphism by itself, even in homozygosity, is not associated with earlier thrombosis. In our patients, we studied the presence of Lupus Anticoagulant, Factor V Leiden, Factor IIG20210A, MTHFR C677T, and also Antithrombin III, Protein S and Protein C levels. We analyse the prevalence of the three mutations in patients with DVP, PTE, ischemic and venous CVA and we only find a significative difference in the 4G/4G group: 46.2% patients with DVP and 48.2% patients with PTE (23% in normal cohort). In conclusion, in the centre region of Portugal, the prevalence of 4G/4G is 23%, 4G/5G is 38% and 5G/5G is 39%; in our cohort of unrelated patients the only significative difference is in the 4G/4G group (47%); this variation maintain in the DVP and PTE group. We did not find difference at the age of the first thrombotic episode, in the three groups.
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