Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model

Fabry disease is secondary to deficiency of the lysosomal enzyme α-galactosidase A, leading to altered glycosphingolipid metabolism and accumulation that is often associated with endothelial dysfunction. Current evidence suggests that there is impairment of the vascular nitric oxide pathway, with abnormalities evident in the cerebral circulation and in the dermal vasculature of patients with Fabry disease. Some of these findings have been confirmed in a mouse model of Fabry disease. The murine model, however, allows investigation of Fabry disease at a non-clinical level and a near complete investigation of biological processes within an affected tissue. This is of particular utility in allowing gene expression analysis of clinically inaccessible tissues such as the aorta.
Conclusion: Future developments in array technology for proteins and DNA single nucleotide polymorphism analysis, together with gene expression microarray analysis, may open a new chapter in our understanding of the biology of lysosomal storage disorders.     

The heart string: a simple, inexpensive exposure of the heart during coronary artery operations

A method of heart retraction during coronary artery bypass operations is described. The technique improves exposure of the coronary arteries, especially of the circumflex and posterior descending coronary branches during grafting. In addition, it is simple, safe, and inexpensive. Furthermore, this technique can be applied for off-pump coronary artery bypass surgery.     

Update on muscle disease

Journal of Neurology - In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital...     

Colorectal smartphone apps: opportunities and risks

Aim The increased utilization of smartphones within the clinical environment together with connected applications (apps) provides opportunity for doctors, including coloproctologists, to integrate such technology into clinical practice. However, the reliability of unregulated medical apps has recently been called into question. Here, we review contemporary medical apps specifically themed towards colorectal diseases and assess levels of medical professional involvement in their design and content. Method The most popular smartphone app stores (iPhone, Android, Blackberry, Nokia, Windows and Samsung) were searched for colorectal disease themed apps, using the disease terms colorectal cancer, Crohn’s disease, ulcerative colitis, diverticulitis, haemorrhoids, anal fissure, bowel incontinence and irritable bowel syndrome. Results A total of 68 individual colorectal themed apps were identified, amongst which there were five duplicates. Only 29% of colorectal apps had had customer satisfaction ratings and 32% had named medical professional involvement in their development or content. Conclusion The benefits of apps are offset by lack of colorectal specification. There is little medical professional involvement in their design. Increased regulation is required to improve accountability of app content.