Spontaneous pyohaemothorax in a teenager with von Willebrand disease: a case report and review of literature.

An 18-year-old man with a history of type 3 von Willebrand disease (VWD) presented with a spontaneous pyohaemothorax. Type 3 VWD may present with both mucocutaneous and deep-seated bleeds, such as visceral haemorrhages, intracranial bleeds and haemarthrosis. There have been very few cases described in children of spontaneous pyohaemothorax. Management of this patient was challenging due to risks of bleeding following surgical drainage, requiring constant replacement with von Willebrand factor concentrate, while monitoring factor VIII levels to balance the risks of thrombosis.

Cancer genetic predisposition: information needs of patients irrespective of risk level.

Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identify information needs of patients concerned about a genetic predisposition to cancer, and explore how this varied according to risk perception, cancer worry, personal motivation and demographics. Stage 1 used semi-structured telephone interviews pre and post participants' genetic risk assessment. The findings informed stage two, a structured questionnaire survey of 1,112 patients, pre and post their genetic risk assessment. Participants were stratified by risk level and included those concerned about an inherited predisposition to breast, ovarian or colorectal cancer. About 512 (46%) responded with equal proportions of responders and non-responders across the risk categories. Findings indicated that irrespective of a person's actual or perceived level of risk, cancer worry, demographic background or personal motivation; priorities in the type of information required were similar. Greatest emphasis focused on information provision about how risk was assessed. Least important was acquiring an understanding about genes and inheritance patterns. Most participants reported difficulties accessing or finding information. Peoples' information needs are consistent irrespective of their risk level and therefore generalised information packages could be developed for anyone requesting cancer genetic risk assessment. Better information is likely to assist patients' understanding and ultimately increase concordance with recommended screening and preventative measures.

Psychosocial impact of the lack of information given at referral about familial risk for cancer.

We aimed to identify patient' information and communication needs irrespective of their risk level, when they are referred for genetic risk assessment and genetic counselling for a predisposition to cancer. Semi-structured telephone interviews were conducted with a purposive sample of individuals referred to a clinical genetics unit for a risk assessment of their genetic predisposition to either breast, ovarian or colorectal cancer and stratified by their level of risk. Triangulation was achieved by focus groups conducted with specialist genetic health professionals. Twenty-three participants were interviewed pre- and post-genetic counselling or risk assessment. A further 11 completed a single interview, five pre-assessment and six post-assessment. Three focus groups were conducted with the genetic health professionals. The results showed that many participants were unaware they had been referred for genetic counselling and as a consequence they felt this caused difficulties in coping with the genetic risk information received. Health professionals corroborated these findings of people's lack of awareness about their referral. This work raises important questions about the psychosocial consequences of inadequate information provision at the point of referral by clinicians in primary and hospital-based healthcare that are responsible for referring the majority of people to clinical genetics units.

Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers.

High breast density as measured on mammograms is a strong risk factor for breast cancer in the general population, but its effect in carriers of germline BRCA1 and BRCA2 mutations is unclear. We obtained mammograms from 206 female carriers of BRCA1 or BRCA2 mutations, 96 of whom were subsequently diagnosed with breast cancer and 136 relatives of carriers who were themselves noncarriers. We compared the mammographic densities of affected carriers (cases) and unaffected carriers (controls), and of mutation carriers and noncarriers, using a computer-assisted method of measurement and visual assessment by two observers. Analyses were adjusted for age, parity, body mass index, menopausal status, and hormone replacement therapy use. There was no difference in the mean percent density between noncarriers and carriers. Among carriers, increasing mammographic density was associated with an increased risk of breast cancer (P(trend) = 0.024). The odds ratio (OR; 95% confidence interval) for breast cancer associated with a density of > or =50% was 2.29 (1.23-4.26; P = 0.009). The OR did not differ between BRCA1 and BRCA2 carriers or between premenopausal and postmenopausal carriers. The results suggest that the distribution of breast density in BRCA1 and BRCA2 carriers is similar to that in non-carriers. High breast density in carriers is associated with an increased risk of breast cancer, with the relative risk being similar to that observed in the general population. Use of mammographic density could improve individual risk prediction in carriers.