No abstract

BRCA1/2 mutation carriers are offered gynaecological screening with the intention to reduce mortality by detecting ovarian cancer at an early stage. We examined compliance and efficacy of gynaecological screening in BRCA1/2 mutation carriers. In this multicentre, observational, follow-up study we examined medical record data of a consecutive series of 888 BRCA1/2 mutation carriers who started annual screening with transvaginal ultrasonography and serum CA125 between 1993 and 2005. The women were annually screened for 75% of their total period of follow-up. Compliance decreased with longer follow-up. Five of the 10 incident cancers were interval tumours, diagnosed in women with a normal screening result within 3–10 months before diagnosis. No difference in stage distribution between incident screen-detected and interval tumours was found. Eight of the 10 incident cancers were stage III/IV (80%). Cancers diagnosed in unscreened family members had a similar stage distribution (77% in stage III/IV). The observed number of cases detected during screening was not significantly higher than expected (Standardized Incidence Ratio (SIR): 1.5, 95% confidence interval: 0.7–2.8). For the subgroup that was fully compliant to annual screening, a similar SIR was found (1.6, 95% confidence interval: 0.5–3.6). Despite annual gynaecological screening, a high proportion of ovarian cancers in BRCA1/2 carriers are interval cancers and the large majority of all cancers are diagnosed in advanced stages. Therefore, it is unlikely that annual screening will reduce mortality from ovarian cancer in BRCA1/2 mutation carriers.

In diabetic pregnancy, use of intermittent retrospective CGM did not reduce the risk of macrosomia. CGM provides detailed information concerning glycaemic fluctuations but, as a treatment strategy, does not translate into improved pregnancy outcome.

This article reviews the literature regarding the physiologic respiratory changes that occur during pregnancy, SDB in pregnancy, supine hypotensive syndrome (SHS), complications and current treatments for these events and potential roles for positional therapy in pregnant women whose problems may be specifically position dependent.

The aim of this study was to investigate closely the nature of premalignant lesions that occur in prophylactically removed breast tissue from patients at hereditary high risk of breast cancer. Breast tissues obtained from 41 patients who underwent prophylactic mastectomy (pM) because of a hereditary high risk of breast cancer and control tissues from 82 age-matched healthy controls who underwent breast reduction surgery were screened for premalignant lesions. Premalignant and malignant lesions were more frequent (p = 0.0016) in pM samples (5/41) than in controls (1/82). Interestingly, lobulitis, defined as more than 100 lymphocytes and/or plasma cells per lobule in more than one section in morphologically normal lobules, was encountered in 21 of 41 (51%) pM patients, in contrast to only 8 of 82 (10%) controls (p < 0.0001). Preliminary observations indicate a predominance of T-cells in these infiltrates, in agreement with the already known frequent presence of lymphocytic infiltration in hereditary ductal in situ and infiltrating ductal/medullary carcinomas. This novel finding implies an immune reaction to an as yet unidentified antigen frequently present in women at hereditary high risk of breast cancer, possibly as part of an early carcinogenic event.