About time for an Update:

Things have been fairly quiet on the blog recently, this is not because of a lack of motivation or anything like that but purely because there is not a huge amount to do nor do I have much time at the moment to give to the blog, though I am always finding time to help any patients that contact me.

I am still busy and active on the Facebook groups, both the Dupuytren’s Contracture one and the Dupuytren’s, Ledderhose and related conditions group. Both are full of useful and helpful patients that are making a different to other patients and all share a lot of information. There is also progress on the patient survey analysis. The Ledderhose section is now all but finished with just a few minor tweaks required. The results are interesting and the symposium is starting to approach rapidly.

Many people of the group raise some interesting questions and some good points, one of the end results of this is that we have created another survey. This is only a short survey and it is just looking at conditions related to Dupuytren’s and Ledderhose. Many people think that there may be links between other conditions that they have and Dupuytren’s, I would guess that in many cases it is just going to be that they are mostly conditions associated with people over the age of 40 and this could be the link. Please fill out the survey at the below address:

http://goo.gl/forms/hZXa5q2HRk

The symposium is in May and the details can all be found on the International Dupuytren’s Symposium website and there is now a schedule as to who is going to talk when, I am one of the last talks so better make sure that my talk is interesting enough to hold their attention at the end of the second day.

http://dupuytrensymposium.com/2015/

http://dupuytrensymposium.com/2015/InternationalDupuytrenConference_Programme_V3.pdf

I now have my flights booked, accommodation booked and I have plans on what trains I am going to get etc. The conference should allow me to make some really helpful connections and have access to the current research.

In fact the location looks really good and I am looking forward to doing the presentation, even if it will be in front of a lot of doctors. Hopefully there will be more surveys on the way or some other way we can all collaborate to generate useful data that is going to help patients. Touching on the location again there is a park nearby so I am hoping to get out for a run whilst I am over there.

On to me…

The running has been going really well since Christmas and combined with a low-carb diet I have not only smashed my 1mile and 3m(/5km) personal bests but I have also lost nearly 4 ½ stone (I still have a little way to go to get down to my target weight but very pleased with my progress so far). I cannot claim that all the excess weight was due to my foot but the weight I am now I have not been since my foot got bad and in another 7lbs I will be the lowest I have ever been as an adult.

I have been very impressed with how well my foot has coped with the excess demands that I have placed onto it and on only last week did it struggle. To put things into perspective in 2012 I couldn't walk without a stick and significant pain, even last year I could feel it after most runs (perhaps to some extent due to the weight?) and last week I managed the following: Saturday: 30 minute hill runs, Sunday: 2 hours badminton playing 1 hour coaching, Monday: 20 minute run, Tuesday: 2 hours walking and 2 hours badminton, Wednesday 30 minute run, Thursday 1 ½ hours badminton, Friday 2 hours badminton.

At the end of that not only was my foot hurting the most it has in a long time but I was knackered, luckily the weekend was mostly spent resting and now (3 days later) my foot feels fully recovered and I am having no pain at all and will try a short run today and I have badminton again on Thursday. To be fair it is unusual for me to do quite that much and although I am getting fitter it is a good reminder that I need to take my foot into consideration and as much as I want to run a marathon one day I have to make sure that I build up gradually and know that it is something that I may not be able to do. My target for this year is still to run a 10k in memory of my Nan in October, hopefully with continued weight loss and a gradual increase in training I will be able to run this and finish physical pain free.

On the more personal side of life it is hard to believe that in under 2 months my daughter will be 2 years old. Of course I am biased but everyone says what a happy, clever and well behaved girl she is. To us she is amazing and she clearly loves music, dance, sport (watching on TV and me playing badminton) and of course in the Night Garden is a huge hit. I don’t know if knowledge that these is a genetic element helps to drive me to look into this or not but I do know that I don’t want anyone to have to experience what I did with this condition let alone my daughter (something I don’t even want to think about).

As always feel free to contact me about anything relating to these conditions, although the blog is not getting updated as often as I would like I am still here, the patients series will be going still although it looks like I might just update it once a quarter or when I have the time. 

Dupuytren's cells used in another scientific paper

Fibroblasts from phenotypically normal palmar fascia exhibit molecular profiles highly similar to fibroblasts from active disease in Dupuytren's Contracture: 

BMC Med Genomics. 2012; 5: 15.Published online 2012 May 4. doi:  10.1186/1755-8794-5-15

PMCID: PMC3375203

The introduction to this paper starts with the normal spiel about the things associated with this disease and I didn't really learn anything new there. There was also the usual talk about it coming back and this again is of unknown cause but likely because of genetics or sufficient disease tissue being left behind to cause regrowth. 

In this paper they are looking at cells from Dupuytren's and carpel tunnel patients as well as normal uninvolved tissue to use as a comparison. For those with limited understanding of science or those that fancy a refresh have a quick look at this post  -- Analysis of Duputren's cells -- I will try and explain the science here but reading the previous post will probably help. 

In this paper they are using a technique that is called a micro-array this allows them compare the levels of thousands of different read outs from the different types of cells are compare them. This means that if they have 4 different cells lines (i.e. 4 different groups of cells derived from different patients) they can build up a profile of what the cells from patients with this condition look like and see how they are the same and how they are different from 'normal' cells. This is a big deal for something like Dupuytren's where of course they do not know what the cause is, they have some idea of the pathways involved 

• Can scar formation be used as a useful model for Ledderhose and Dupuytren's?

• IGF-2 and its relationship to Dupuytren's

The advantage of a micro-array is that it allows you to look at allow the changes that are happening in all the pathways in the cells that have come directly from patients. 

The Results:

I will stick to looking at what they found for the Dupuytren's tissue rather than bog down the post with the carpel tunnel stuff, When comparing DC and normal cells they found out that there were 308 transcripts that were different between the two cell types, they also show lots of other data saying that there is some difference between the two different sets of cells. 

They next go on to look at identification of biological pathways that are altered among these different cell types. When looking at the pathways altered in the different cell types for Dupuytren's and normal cells were related to cell death, cell growth and proliferation (speed and control of growth) which of course makes sense when you see less cell death and too much cell growth and division in Dupuytren's cells. The analysis also suggested that there was some involvement of the regulation of things called microRNAs. These results were then validated using another technique which showed that the results were reliable. 

They conclude by saying that the progression and recurrence of DC could be based upon similar theories to those applied to tumour biology (in no way are they suggesting it is cancerous). They say that perhaps there is an inherited mutation but that it takes a second mutation to cause the disease to become active, this kind of fits with the fact that the disease appears to be dominant but with a variable hit rate as the dominant factor is the initial mutation but the variable bit is acquiring the second one. Again this also fits with the disease normally happening later in life as this would give time for the additional mutation to occur.  

They have a lot more information in that paper which is why I have linked to it above. Hopefully research continues into these conditions so that a better and more successful treatment / cure can be found.