The afternoon session kicked off with a genetics session, having studied molecular genetics at uni this really appealed to me, even if I was not sure on their main aspects as I was more molecular cell biology person and the statistics is a bit daunting.
Of course for Dupuytren’s this is vital as there is some genetic elements to the condition and if you know the genetics you can in theory more easily predict the biology that you need to look at to get results that are relevant to the condition.
There was some great background in the first talk which I am happy to say I remembered in good detail. Details on things such as SNPs and alleles. A good background for many and certainly will help when the presentations are published on-line.
One of the papers put the genetic risk at 80% (not inheritance there is a difference) leaving room to talk about trauma.They found some interesting results including the Wnt pathway, inflammation and transcription factors. One of the genes they mentioned was SFRP4. From a quick Google this looks interesting as it has previously been shown to play a role in cancer and apoptosis and a change in apoptosis could easily be relevant to any tumour. Must admit that this session didn’t give me as much of a buzz as the previous session, but this may of been because I was expecting some sort of genetic break-through but if we knew that then we would all know about that.
EPDR1 is another protein they mentioned. All I could tell from this section was that the protein is highly conserved and highly expressed throughout meaning that it is important, especially in those with European heritage which links nicely with Dupuytren’s and that their future work will hopefully unveil a functional reason for them pinning down this protein.
“The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion.” http://www.ncbi.nlm.nih.gov/gene/54749
Of course the bottom line is that we still cannot determine the current genetic risk. The other factor that I found interesting was a sibling based study which I had missed seeing before, this showed that if you have the condition your siblings have a much greater chance (around 5x the risk) of getting the condition compared to the general population.
There is of course also the trauma side as I mention above, there was a study in this session looking at hockey players and I reckon you would see the same when looking at other sports such as cricket players and it has been previously shown that rock climbers have an increase. Interestingly the results were actually looked at from the point of view of vibrations causing an increase in risk rather than trauma, I would have thought that it was a combination of the the 2 and to be fair they did cover this in their discussion.
Associated factors was also looked at, with diabetes being looked at in this case. They raised some interesting points, again having to age control the control group. Their results were done from collating data from previous studies and analysing them to statistically correct for different factors. Basically for now their conclusion was that diabetes and Dupuytren’s are linked.
There was then a conversation on whether splinting was good or not. Can it be used to prevent contracture or post-op to make sure the finger stays straight and what sort of splinting should be used. If this is something that you think would be good for you to view I recommend watching the YouTube Video. Interesting that the surgeons are so happy to readily admit the high recurrence (can’t exactly deny it) yet it is still the main treatment option used around the world.
Not sure that I am going to have too much more to write up on this session because a lot of the information was very specific and the outcome was the result of a lot of statistical analysis which I don’t intend to go into in any detail.
The next session was on Collagenase, this session added to my frustrations in terms of lack of mention of Ledderhose. Mine is the only Ledderhose specific talk and throughout the day it was barely mentioned by anyone else other than in passing. There was the same number of talks on frozen shoulder as there was on Ledderhose, I don’t mind that but there could have done with being a few more on both, but then again the talks were really crammed in and it is amazing that so many people are available to talk on these conditions in the first place.
It was interesting to hear, that as in a lot of things, it came around by accident. The treatment was initially suggested for something else but went to the right person at the right time and that the act of snapping the cord came about when after treatment with CCH the fingers hadn’t straightened and the doctor went to shake a patient's hand and the cord popped. There is also part of the political side, that the drugs needs commercialisation and money to get off the ground, the drug needs to be able to make money, we all know that but interesting to hear another side of things. One of the things that shocked me the most was the gender bias in one of the studies. A whopping 83% of the people getting CCH injections were men, so either the men progress more with Dupuytren’s than in our survey or men really are significantly more lazy and aren’t doing the survey. Also lots of videos of fingers being released after injections, the pop of the finger is not the most pleasant of sounds! He did cover the side effects including skin tears and recurrence, which was at least 13% after a few years.There were many interesting points about the different factors such as dose, use of local anaesthetic and time from injection to finger extension.
One person used the presence of Ledderhose in 43% of patients as a case for them being severe cases, at least that was how it came across, that is certainly a high number but I think if all DD patients were checked we would find a high number of Ledderhose patients.
There are still concerns about the quality of data in the USA for radiotherapy, which is something that I know that there are many patient groups trying to address and it sounded like the doctors here wanted to address it as well. The doctors here all actually seemed positive about radiotherapy and it is just the geographical distribution of the surveys that are the issue.
Overall I think that an entire session on these injections was overkill, nevertheless is was still very informative and I appreciate that since the last symposium in 2010 there has been the most development in this treatment option.
Looking forward to tomorrow now with my talk to be given in the afternoon and hopefully I can convince a few people that radiotherapy is a great treatment option for Ledderhose and if I can’t then perhaps I’ll run round the room a few times to prove my point?
The whole day was fantastic and every talk was interesting and all the presenters did a great job.
(My picture wouldn't upload!)
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