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A Cavalier film, health related, BBC1........

Bet, I am sorry you feel that way. But the element of uncertainty due to the occasional incorrect dog on a pedigree, especially from many, many years ago before better records were kept, would be statistically far too miniscule to make any real difference to the EBVs or the work that resulted in the MVD protocol or the role of inheritance in CM and SM. It is fairly easy these days to correct many inaccuracies too because so many people are aware of littermates and relations on pedigrees, especially for the key dogs that are most relevant to the genome work now.

Sarah Blott also does not need further MRIs to prepare her EBVs -- as the newsletter noted earlier this year, she has actually completed EBVs for every single pedigreed cavalier alive right now in the UK. The job of making those ever more accurate will depend on adding more information via MRi, but primarily by adding the results of the Canadian genome project, which will link true genetic inheritance values to the breeding values for a given dog or line. Again, the occasional incorrect dog on past pedigrees is not going to alter those EBVs.

Using cheek swabs, blood donations or whatever to link a dog and pedigree to a DNA profile is a standard that will likely come in for all dogs (I already own a dog that is DNA profiled by the breeder :)). Already many good breeders do this s best practice, to guarantee that a given dog does have the parentage claimed on the pedigree. The IKC is talking about making this mandatory for all registered dogs. But this works both ways -- A DNA test can also verify that dogs could NOT be the ones noted on the pedigree. This is why it is also unlikely that a given dog and pedigree would be totally or significantly incorrect for research as the profile would be wrong for the dog.

So there really is no issue of damaging Sarah's current funded work project even if no one submits another MRI right now, you can stop worrying about that. Also occasional inaccuracies on pedigrees will neiher have affected the accuracy of research work on MVD that led to the MVD protocol, nor to the initial genetic and DNA work that has already indicated -- as Sarah herself has noted -- that probably 70-80% of the likelihood a dog will develop SM is linked to inheritance. She will tell you this herself I am sure. However, the long term value of her EBVs once she has completed this work would depend on some people continuing to scan so that real scientific data from the scans can be added to the predictions of inheritance. There are good indications that many people will scan as many breeders have indicated an intention to obtain this data on their breeding dogs. Given the close relatedness between all cavaliers, much useful data will come from even small MRI samples.

So your work before was not in vain in terms of the results. Sadly though it may well be seen to have been in vain if breeders do not actually use the MVD protocol that resulted! As the UK CKCS Club's own cardiologist Simon Swift has said several times -- including in Pedigree Dogs Exposed -- heart statistics within the UK club have not improved AT ALL in the years the club has recommended -- rather than required -- using the MVD protocol, and that this is due solely to breeders not following the protocol (stated in his open letter to the club that was posted the the UK CKCS club site for several weeks last year. in which he asked whether the club was truly serious about improving heart statistics in the breed and if so, was it not now time to REQUIRE cardiologist heart testing only, and the use of the protocol?).

PS It is worth noting that all the pedigree information is what is in the records of the UK club, so if it were to be significantly incorrect, that would be a problem they would need to work to resolve. Nonetheless the inheritance values would not have been significantly affected over such a huge sample of pedigrees (15,000), tied to some 1500 MRIs I believe at this point, and many blood/cheek DNA samples that were donated as well. (y)
 
A Cavalier Film ,Health Related,BBC1

Thats good that Cheek Swabs were taken for the Pedigrees for the Canadian Gene Research ,its so important that they are accurate .This makes the Scientific Information valuable

Bet
 
EBV's

Karlin
Do you have any idea how long it will be before breeders can get help from Sarah?
If they are trying to find the best match for their scanned girl?

Evelyn
 
No idea -- this is what was said at the meeting:

Estimated Breeding Values (EBVs)

It was agreed that all scan results should be sent direct to Sarah Blott for her continuing research. It was noted that a consent form will be needed to allow results to be used for research, and this can be based on current forms used for hips and elbow examination. The format of the form will be agreed by the panel of neurologists and radiologists.

It was noted that first estimates of breeding values are now available for every cavalier in the UK.

There was discussion on when EBVs should be made available to breeders. It was suggested that should EBVs become available too soon, when the programme is still at a very early stage, results could be disappointing and may alienate breeders. It was agreed that more information (ie. further MVD and MRI results) should be obtained before the system is introduced, so that it is more reliable and thus more beneficial.

It was noted that dogs do not have to be scanned to be given a breeding value. There are various ways in which EBVs could be presented to breeders. The AHT will work with the Breed Clubs over the coming months to determine the best way of doing this. The breeding value of each dog will change over the years, as information is obtained on its progeny.

It was noted that Sarah Blott particularly requires information on clear dogs.

This will be a web-based scheme but available in print from AHT, to any breeder on request.

Sarah Blott agreed to produce a special leaflet for distribution to club members, explaining the scheme in layman’s terms.

The AHT data collection will be used to provide breeders with EBVs for safer breeding programmes to reduce the incidence of both MVD and SM, and could include any other condition as appropriate in the future. The EBV system will become even more reliable when permanent identification (PI) is introduced throughout all members’ breeding stock.

The full explanation from Sarah of her programme is here.

This is exciting work:

In addition to selecting away from individual known diseases, such as syringomyelia, it is important to consider the long-term health of the breed. Population diversity and maintenance of diversity is important in order to minimize the risk of future new diseases arising. We want to apply state-of-the-art genetic selection techniques that use optimal contribution theory to help avoid unequal representation of individuals in future generations or ‘genetic bottlenecks’ occurring. This ensures that increases in inbreeding and loss of diversity are minimized. Our aim is to develop internet-based tools that allow breeders to have direct access to these state-of-the-art techniques to help them make optimal selection decisions. The Cavalier King Charles Spaniel will be the first dog breed in the world for which these techniques will be available.

One might guess that using the EBVs to promote diversity will also highlight the need to stop close linebreeding.

Further background:

Data collected by Penny Knowler and Clare Rusbridge is currently being used as the basis for the population-based analysis of heritability. Their database contains clinical observations for SM and CM on around 1,400 dogs and MRI scan results for around 700 of these dogs. We have also been given access to the full UK Kennel Club pedigree records for CKCS. This enables us to estimate the heritability of SM and the genetic correlations between SM and measurements made from the MRI scans. The information obtained from this analysis then allows us to derive estimated breeding values (EBVs) for all measured dogs as well as all dogs in the pedigree. Once the results of the gene mapping studies become available it is hoped to bring this information together with the population analysis to facilitate the calculation of genomic breeding values (geBVs). Early estimates of the heritability of SM suggest it is around 0.7-0.8* or that 70-80% of the variation between individuals is genetic in origin and about 20-30% is environmental. In the case of SM not much is known about the environmental influences and these may include in-utero or developmental effects. The heritability is sufficiently high, however, that genetic selection against the disease should be very successful. Heritabilities for Chiari Malformation, Cerebellar Herniation and Medullary Kinking are also very high. Genetic correlations between these traits and SM are positive and, interestingly, less than one. This suggests that different genes may be controlling SM and CM and that it will be possible to select against SM even if dogs have the malformation (CM).

This is why supporting the Canadian genome study is crucial -- that is where the genomic info will come from:

The accuracy of the EBV increases with numbers of offspring and this may take some time to achieve. In contrast, genomic breeding values (geBVs) provide a high accuracy from birth. By looking directly at the DNA genotypes we can see which genes were inherited from the sire and from the dam, without having to wait for offspring. Genomic breeding values can be used for accurate evaluation at an early stage, before the disease phenotype may be apparent and before a dog is used for breeding.
 
I'll post this to this thread as well:

This article is on the UK Cavaliers website, and is very insightful on linebreeding and the problems it can cause in later generations as it quotes the woman widely credited with founding the modern CKCS, the woman who bred the dog on which the breed standard is based, Ann's Son, Mrs Pitt:

as Mrs. A. Pitt the founder of the Cavalier Breed said in a Cavalier magazine here in Britain in 1957 no thought had been given as to the future health of the Cavaliers, because the breeders at that time were in-breeding over and over again to the same stud dogs. 1 do know that there were Cavaliers dying of heart trouble in the 1950's whether from M.V.D that will never be known, but quite a number of those Cavaliers were the result of in-bred pedigree backgrounds. Is this the reason why around 50% of the Cavaliers in Britain have heart murmurs by the age of 5 years of age? It's even worse in Canada where 50% have heart murmurs by 4 years age.


Since those faulty genes could have come down through the generations because of close/line breeding I suppose those figures will be much the same in America because in breeding would have taken place to get the Cavalier breed established


What this means is that for Britain 41 % of Cavaliers will be carriers of heart murmur genes and around 9% of Cavaliers will be clear of those faulty genes.

[snip]

Is this now the time for Cavalier breeders, for the future of the breed, to bite the bullet in order to widen the genetic pool of Cavaliers and start using Cavaliers for breeding that are not winning in the Show Ring?


I have been collecting quite a few hundred pedigrees of Cavaliers who have died at a young age, 5-7 years from heart trouble, mainly from Cavalier Pet Owners, like ourselves over the years and very few Cavalier Breeders in Britain can say they've had no heart trouble in their lines

One of many, many key articles written by Bet Hargreaves, who has campaigned for years for better heart health in the breed. She wrote this in 2000. :)

http://www.cavaliers.co.uk/articles/articlelonglived.htm
 
I am very concerned about a private email that is being widely crossposted by a health rep to a large CKCS club in the UK -- which publicly raises doubts about the professional capabilities of one of the most eminent neurologists in the UK, Mr Geoff Skerritt, and his abilities to produce and interpret an MRI. The email is written by a human rheumatologist in Australia (without veterinary background). It was Mr Skerritt who did the MRI on the Malvern stud dog. He has also done more MRIs for club breeders than any other single neurologist in the UK, at discount and often at club request, very deep discounts for special regional club screening days.

I am sure some of you have seen this email. The doctor who wrote the email also claimed that people should not be overly concerned at high rates of the malformation in cavaliers because the Chairi 1 malformation in humans is actually 'common' anyway.

Such a claim is extraordinary. So I tried to find out this doctor's background to be able to make such claims. He turns out to be an elderly, human rheumatologist in Australia, without any vet background, who hasn't published in his area in 30 years (going from what comes up on the publication indexes, a few papers in the late 60s and 70s).

In contrast, Mr Skerritt is well recognised in the UK as a pioneer of veterinary imaging. He is author of the textbook 'Handbook of Veterinary MRI' and RCVS Fellow and Recognised Specialist in Veterinary Neurology, Diplomate of the European College of Veterinary Neurology; he is a former President of the ECVN and current Chairman of the RCVS Small Animal Surgery and Fellowship Boards.

On the 'commoness' of Chiari 1 in humans: current research estimates likely human occurrence at 1:1200 (this figure is widely available from current published articles) -- or 0.08% of the human population, which is in medical circles definitely considered 'rare'. If only 1% of cavaliers have the malformation, then the cavalier rate is 12 times that of the human population. If it is, say, the 85% Geoff Skerritt has predicted, it is 1200 times the rate of human affectedness.

Or put it another way -- the ACKCSC's own breed health survey in 2005 came back with an MRI-diagnosed level of SM of 4% at that time, which would of course be very low compared to all the study populations so far. Nonetheless, 4% is a level that Prof Larry Glickman, head of Purdue vet school, at that time termed worryingly high compared to the the normal dog population and caused him to mark the condition as an increasing breed concern.

So, even if all the ongoing research is radically wrong and the level is actually down near the breed survey, the level would still be approaching 1 in 20 cavaliers, which to most people is not rare. That is an SM rate of 1:22, compared to the 'common' 1:1200 incidence of Chiari 1 malformation in humans. Which surely means the SM ratio, by comparison, is extremely common in cavaliers?

I have suggested that it is a very serious matter indeed for all club breeders who have had dogs MRId if the health representative of a major UK CKCS club is allowing Mr Skerritt's professional bona fides to be openly challenged and that this surely requires some sort of adjudication, perhaps by a neutral panel of radiologists and neurologists which the club and KC themselves proposed be established recently to view MRIs. Alternatively Mr Skerritt should be allowed to offer and defend his reading of that MRI publicly?
 
Can't conceive of a rheumatologist commenting on a neurological field. Most specialists have a hard time keeping up within their own specialty let alone invading another which leads me to believe this might be a hoax but an ugly one if it does come under that category.Saw this specific email quoted on another site and did see some belief there-some people will believe anything they see written :(
 
Note the email does not dispute Geoff Skerritt's findings. It only disputes Geoff Skerritt's professionalism by alleging a poor quality MRI that he could not read himself. So the email actually proves nothing about the content of the MRI or dog in question.

It is worth noting that vet MRIs are read differently, from different angles, than human MRIs.
 
As do I, Misty.

There was a wonderful post, by a breeder, this morning on the CKCS-SM yahoo list that helped my heart.

She is one obviously recognizing and facing the problem.

I have yet to recieve permission to crosspost, but it points out the studies which show the prevalence of SM in the breed, and a belief in the accuracy of the studies and in the scientists trying to help this breed.

I am thankful for breeders like her.

For those unfamiliar with the studies, they were of dogs voluntarily MRId but which were not showing outward signs of SM.

The results:

In the Netherlands - 56%, in France - 42%, and in North Carolina - 37% had SM.

Googling can find the studies, but as I have just been reading the French Abstract, here it is: http://www3.interscience.wiley.com/journal/120750176/abstract?CRETRY=1&SRETRY=0

For Bet, this is a published and peer reviewed paper I believe (feel free to correct me). To note from the study, "The incidence of Chiari-like malformation and syringomyelia may be high in an asymptomatic population of cavalier King Charles spaniel."

Arlene and her three: J P - Alaskan Husky, Missie - Cavalier x Tibetan Spaniel, Rocky - All Sporty Cavalier:)
 
Yes, there have been several studies, one of which, in Canada, has not yet released figures formally I believe.

  1. Couturier and others 2008 -- study of 16 dogs, none with symptoms, 43.7% affected SM
  2. Guelph (Canadian) study -- as yet unpublished
  3. South African study -- 52 dogs, 5% had signs of the disease and 52% were affected with SM
  4. USA study (US club funded) -- Cerda-Gonzalez and other 2006 (abstract) and 2008 (pending publication). 64 dogs of which 49 were fee of clinical signs of disease. 26.5% of these 49 asymptomatic dogs were affected SM - if you included the symptomatic dogs then this figure rises to 42%
  5. UK and Netherlands -- Rusbridge and others 2007. 75 dogs of which 55 were fee of clinical signs of disease. 65.4% of these 55 asymptomatic dogs were affected SM -- if you included the symptomatic dogs then this figure rises to 74.5%

None were random samples but all as noted had a high degree of asymptomatic dogs presumed to be clear, many of them breeder-owned dogs. Most of these studies have dogs aged 5 or under -- eg breeding age -- so the assumption would be that levels of affectedness are higher because SM is progressive and would be likely to be seen more in older dogs than younger.

Ideally now would be the time to fund a fully random study to MRI a larger population of cavaliers.
 
A big thank you Karlin for listing those studies.

This is the post from the breeder Laura Lang that I wrote about earlier. I now have permission to crosspost.

I post it not for the information, but because it reflects the great intentions of a breeder.

As I said, after reading through lists and posts over the last few days I'm getting a bit negative. From a breeder this is a welcomed post that warms my heart.

"Dr. Rusbridge has stated several times that about 30-50% of Cavaliers have SM. She also stated this on the documentary. I have yet to read a published percentage by Dr. Skerritt. All other studies have shown percentages in the same range. These can easily be found on the internet by doing searches.

Netherlands
Overall 56% had SM.

France
With this group, 43% of clinically normal champion breeding dogs (genitors) had SM

North Carolina
MRI Findings: 37% had SM

Of the MRIs sent to me and put up on the Cavalier InfoCenter site, the results are also in the same range. 42% had SM.

These were breeding dogs voluntarily MRId by their owners--not clinical cases. I have heard of no studies showing a lower incidence. Possibly a higher incidence however. I believe Dr. Rusbridge uses those statistics because not only is that what she has found, it has also been backed up by every other study done worldwide.

For those who don't know what SM is--it means there is a significant pocket of fluid inside the spinal cord called a syrinx. Significant means the syrinx has to have a diameter wider than 2mm. This is not a normal finding in any human or animal. 80% of humans who have SM have symptoms. The primary symptom of SM is pain--headaches and a burning sensation being some of the most common forms of pain. Lots of it mild, some much more severe. Maybe some expect that dogs are not in any pain unless they are rolling around screaming but quite honestly unless the pain is really severe--few of us would roll around and/or scream while in pain! Humans will tell others they are in pain and will take pain meds when needed, both of which dogs are not capable of. Therefore, there is no way I could state with any certainty at all that my dogs are free of all pain and therefore have no symptoms of SM. I cringe when I hear breeders flat-out stating none of their dogs have symptoms for this reason.

I also cringe when I hear someone say CM may be a normal finding in the breed. No way can I believe it is 'normal' to have one's cerebellum squashed to half it's normal size! And crammed up against the foramen magnum all the time. The fluid that the brain and spinal cord floats in needs to move back and forth with every heartbeat and if it can't--no way can this be a good thing. No one will ever convince me it is.

Common sense--this should be common sense.

I believe in my heart that these stats are somewhat accurate. Maybe, hopefully a bit on the high side, but still close enough. As accurate as the stat that 50% of all Cavaliers have a murmur by age 5 or 6 and most by age 10 or 11. No one would be happier if many more people would MRI their dogs and it would show that the 30-50% stat is not correct and that the percentage of affected is actually much lower than that. I hope that happens but my heart tells me research is way beyond the point of questioning stats and now moving towards getting answers.

I do not believe it is all gloom and doom however. If I did I wouldn't still be here. I think something can and should be done. I know I'm doing all I can--using every clue. I have no idea if I'm doing the right thing, but I am doing something. Something that makes good common sense to me. I'm hoping to reduce the amount of CM in my line and breeding towards that end. I do not believe CM is normal so I don't want my dogs to have it. I feel that if the fluid is moving freely between the brain and spinal cavities, it will be better for my dogs. MRIing is part of that picture. By the end of the year I hope to have most of the dogs in my house that are still in my breeding program that are 3 years old and older MRId. I also hope that by 2010 their MRIs will show that I have been somewhat successful towards achieving little to no CM. SM or not, I do not want my dogs' cerebellums squashed or free-flow of fluid blocked much of the time! I wouldn't want it in my own head or my childrens' heads. So I also don't want it in my dogs' heads!

I have to follow my own conscience and what I believe is common sense.

Laura Lang"

Arlene and her three :)
 
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UK Neurologist Geoff Skerritt has said he feels he has the right of reply to the email from Dr Ingpen criticising the quality of his MRIs on the Malvern dog (and thus by implication questioning a diagnosis of syringomyelia referred to on Pedigree Dogs Exposed).

The email was posted widely by the health representative to the Southern CKCS Club, Veronica Hull, who referred to the email as "fascinating and balanced" Dr Ingpen as an 'unbiased' source ("a true perspective from an unbiased source who has expertise in this subject"). Dr Ingpen, it turns out, is married to a cavalier breeder in Australia who is also listed as their puppy referral contact. Dr Ingpen is also a human rheumatologist without veterinary background. Veronica Hull is the breeder who is questioned amongst the group of women at the very end of the BBC film.

This is the portion of his email that Geoff Skerritt is responding to:

6. Whilst in the UK in 2007 I was invited to examine a number of MRI images
relating to this problem. There was one which was clearly diagnostic and it
is my understanding that the breeder took responsible action. I also had the
opportunity to view the MRI referred to in the BBC programme. I think the
images were poor, inadequate and certainly not diagnostic anatomically.

There is no doubt that the problem has to be looked at seriously but in my
view at least the evidence available does not support the propaganda. I
sometimes wonder which 'bitch is on the end of the lead'.

Geoff Skerritt's response:

Dear All,

Thank-you for your support. I am surprised by the impertinence of this man! Considering that I lectured in veterinary anatomy for 20 years, pioneered veterinary MRI, was a founder of the European College of Veterinary Neurology and currently have one of the largest caseloads of veterinary MRI in the world, it is surprising that a man with no applicable qualifications should think that he knows more than I about a study that has occupied me for 10 years. The many students that I have examined would find Dr Ingpen's questioning of my ability most amusing. Much of my early work, including publications and presentations, were with Charlie Davies, Consultant Neurosurgeon at the Preston Hospital (human!) allowing parallel study of Chiari in human patients.

Dr Ingpen should know that the best MRI material for interpretation is on the VDU of the scanner -- my reports are so-based. Original hardcopy film is OK but any other reproduction is for illustrative purposes only. I don't know which films he thought he saw but it sounds as if he needs some lessons in basic interpretation.
I have viewed about 1000 scans of Cavaliers ---- I think I know what I am looking at! On both T1 and T2 weighted images there can be little doubt about the presence of syringomyelia; enlarged lateral ventricles are often obvious but I have always conceded that they can be present as a completely separate entity. The most difficult feature to assess is herniation of the cerebellum into/through the foramen magnum; however, if you compare likely abnormals with definite normals ( the same and other breeds ) caudal protrusion of the vermis ( not the tonsils of the human patient ) is clear but you must be able to identify the bone of the occiput ( not easy since it is black not white as on a radiograph ).

I would appreciate an apology, Dr Ingpen.

Regards

Geoff Skerritt
 
Well done, Mr.Skerritt. I doubt he expected that type of fallout from the BBC program. The Southern Club seems a little to the left, or is it to the right, of distinguished leadership. You'd need tough skin to approach some of them about a puppy-I didn't say all--just some. :p
 
The more I've read the past few days, the sadder I become :(
So do I. This isn't a chess game; we're talking about the health and well-being of cavaliers AND the families these dogs are members of. Sadly it's like watching a Greek tragedy sometimes lately. :(

Arlene, thank you for your observations and inspiring us with cross-posts from breeders like Laura Lang. Her approach to cavalier health is awesome. I'm sure there are more breeders like her who are doing their best to eradicate SM using a common sense approach. (y) What would we do without people like her?!
 
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Cathy, it is very self serving of me. I hate Greek tragedies. I am much more of a comedy fan! If I didn't find that post I'd still be crying into my cereal about this situation. It feels good to pass it along.

I have a question. As I have been bumping around on these threads the last few days I once came across a post about someone being close to a genetic marker. I lost it and haven't been able to find it.

If someone else here has read it can they point me in the right direction please?

Arlene and her three: J P - Alaskan Husky, Missie - Cavalier x Tibetan Spaniel mix, Rocky - All Sporty Cavalier:)
 
This is probably Zoha Kubar/Guy Rouleau's info on the genome project.

There is info summarised from Guy's presentation here and some from Sarah Blott:

http://www.cavaliercanada.com/documents/VETERINARY_SATELLITE_MEETING_-_Website[1].pdf

Also check the Q&A as Guy was asked further ant this. He is an eminent geneticist who has done this type of groundbreaking work for several diseases.

Paper 2 here from Clare Rusbridge summarised the genetic findings so far:

http://sm.cavaliertalk.com/research/london/london06.html

In one of the Rusbridge newsletters there's a summary from Zoha but Clare Riusbridge's paper above gives that info in more detail and at a later point in the research.

Sarah Blott is dependent on the Rouleau work (which is the genome project initiated by Rusbridge/Knowler) to be able to offer the most accurate estimated breeding values, so much rides on that particular project.

Dur
 
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