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Archive for June, 2013

A very unique cyclist

18 Jun, 13 | by Dr Dean Jenkins

Cyclist Tom Staniford from Exeter has a particularly rare form of Type 2 diabetes associated with absent subcutaneous fat and hearing loss.

“Although he was born a normal weight, he lost all the fat around his face and limbs during his childhood, and yet his body still thinks he is obese, meaning he has type 2 diabetes. His hearing also deteriorated when he was 10 and he has worn hearing aids since.

Staniford’s condition had never been identified – until recently, when a research team set about mapping and analysing his DNA to pinpoint the precise gene mutation responsible.

Finally, Staniford has discovered he is one of just eight people in the world with MDP syndrome.”

http://www.bbc.co.uk/news/health-22903537

Lucky then that he lives in a city with one of the world’s leading research centres for genetic forms of diabetes as his case was investigated by Andrew Hattersley’s team at Exeter University [1]. Hopefully with recognition of his condition suitable arrangements can be made for his paracycling competitions.

Tom Staniford Paracyclist

1. Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O’Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 2013 Jun;advance online publication Available from: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2670.html

Case report of Fibrous Dysplasia 120,000 years post mortem

6 Jun, 13 | by Dr Dean Jenkins

PLoS One has published archeological evidence of a possible primary rib cancer in a Neanderthal era human from over 120,000 years ago. (1)

This, clearly, is a very long time to wait for the publication of a case report!

The authors provide photographic and radiographic evidence of the tumour and presume it to be a primary bone tumour – fibrous dysplasia, “a benign disease of bone with rare potential for malignant transformation” (2). They go on to discuss the possible environmental factors associated with this type of abnormal growth / malignancy and that tumours can occur in the unpolluted environment of our ancient human ancestors.

 

1. Monge J, Kricun M, Radovčić J, Radovčić D, Mann A, Frayer DW. Fibrous Dysplasia in a 120,000+ Year Old Neandertal from Krapina, Croatia. PLoS ONE 2013 Jun;8(6):e64539. Available from: http://dx.doi.org/10.1371/journal.pone.0064539

2. Riddle ND, Bui MM. Fibrous dysplasia. Arch. Pathol. Lab. Med. 2013 Jan;137(1):134–138. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23276185

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