Month: October 2014

Invariant Natural Killer T (iNKT) cell development is highly regulated, starting at stage 0, where DP thermocytes become committed to the iNKT cell lineage, and ending as fully mature stage 3 iNKT cells, which are capable of illiciting an immune response. iNKT cells are a subtype of T-cells that can recognise bacterial infections, viruses, and … Read more

The majority of research on FLCN is within the context of BHD syndrome, which is caused by heterozygous germline mutations in the FLCN gene. However, two recent papers have reported that somatic FLCN mutations may be a factor in the development of sporadic tumours. Sirintrapun et al. (2014) describe the case of a 74 year … Read more

Although 90% of BHD patients develop lung cysts, there is very little information about the natural history of BHD lung cysts. In order to determine how lung cysts change over time, Johannesma et al. (2014a) compared the results of two CT scans taken at separate intervals, from six BHD patients, five of whom had suffered … Read more

Kidney cancer patients face a number of challenges, such as lack of awareness both by patients and their doctors, difficulty getting a diagnosis, limited access to treatment, inappropriate treatment, lack of information and lack of support. Given that there were an estimated 338,000 new cases of kidney cancer diagnosed in 2012 alone, this is a … Read more

In many cases, early diagnosis means treatments are more effective, cost less and save more lives. Screening programmes aid early diagnosis and can be used to screen whole populations, such as the fetal anomaly screening given to all pregnant women in the UK, or smaller groups of people with specific risk factors or symptoms, such … Read more