BHD causes pneumothoraces during childhood in rare cases

Birt-Hogg-Dubé Syndrome is caused by inactivating mutations in the FLCN gene, characterised by skin lesions on the face and upper body; lung cysts and predisposition to pneumothorax; and kidney cancer. Although symptoms typically appear in the third and fourth decade of life, Johannesma et al. (2014) suggest that pneumothorax in patients under the age of … Read more

Intratumoral peripheral small papillary tufts might be a diagnostic clue of BHD

Contrary to other hereditary kidney cancer conditions, BHD-associated renal tumours are known to be histologically diverse and discordant within families, meaning that members of the same family do not necessarily get the same type of kidney tumour (Pavlovich et al., 2005). Kuroda et al. (2014) recently reported on the histology of tumours from six BHD … Read more

FLCN is important for cardiomyocyte development

Cardiac hypertrophy is an adaptive response that occurs following increased stress on the heart wall, and can be caused by strenuous exercise, hypertension, heart attack or heart valve disease. In some cases, this can lead to heart failure. Although the biological mechanism underlying cardiac hypertrophy is not fully elucidated, dysregulation of the AMPK–mTOR signalling pathway … Read more

Public awareness of cancer and federal funding of research in the US is affected by how cancer is reported in the American media

The link between having a good understanding of your health and of disease (health literacy) and health outcomes is well documented (Berkman et al., 2011). However, access to accurate and unbiased information is required for the public to be able to accurately assess their health risks. A recent study by Jensen et al. (2014) sought … Read more