Re: Cohen vs. DiMauro on fresh vs. frozen

[Guest guest]

Hugs Laurie...4!!! I barely got through one....I don't know how you did it.

Vivian

[Guest guest]

and reverting to an old argument (smile) did these 6 biopsies have

pain killers involved or not. Interesting timing on the discussion as last

night I dreamed I had to have another biopsy.....what muscle is preferred for

this if any? By the way I have spoken with Billy de Mauro his is a wonderfully

warm and caring man at Columbia Pres...but his specialty is mitochondrial gi.

Vivian

[Guest guest]

Since I had several frozen biopsies with differing results and the only

biopsy that came up with mito was a fresh one, I say fresh , unless you

want to take the chance of having to have another one that is fresh

after the frozen one. YMMV.

shaynapearl wrote:

>Since I'll be having a biopsy in November, I've been looking into the

>fresh vs. frozen question. I called Dr. Cohen's office and a nurse

>called back and said they only do fresh ones. They believe it's much

>better. Then I called Dr. DiMauro (who I actually spoke with

>directly). He was convinced that frozen is fine in the vast majority

>of cases.

>

>I liked Dr. DiMauro's answer better for the pragmatic, non-scientific

>reason that I'd have to travel to get a fresh biopsy and travelling is

>very difficult for me. But I know some of you have had both types

>done. Did you get different results with each type? If so, could the

>different results be attributable to the specific type of mito you

>have? Or, could it simply be that people with mito test differently

>at different points in their illnesses? Or, do you believe that the

>fresh-frozen issue was the key?

>

>Best,

>Shayna

>

>

>

>

>

>

>Medical advice, information, opinions, data and statements contained herein are

not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

>

>Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

>

>

[Guest guest]

Hi Shayna,

Our eldest daughter had a frozen biopsy first which

was nondiagnostic. Given her clinical presentation

(and the fact that several of our docs refused to

treat her for mito without confirmation) she was

referred for a fresh biopsy. Since the initial frozen

biopsy she has had TWO fresh biopsoies, one in Atlanta

and one in Cleveland. Both fresh biopsies were

POSITIVE for mitochondrial disease.

soem people do succeed in getting a diagnosis via a

frozen sample biopsy, but I can't tell you how many

families I know where the frozen result was negative

and a later Fresh biopsy was diagnostic (the number is

staggering).Traveling isn't easy but for us have been

well worth the hassle.

--- shaynapearl happyclam8@...> wrote:

> Since I'll be having a biopsy in November, I've been

> looking into the

> fresh vs. frozen question. I called Dr. Cohen's

> office and a nurse

> called back and said they only do fresh ones. They

> believe it's much

> better. Then I called Dr. DiMauro (who I actually

> spoke with

> directly). He was convinced that frozen is fine in

> the vast majority

> of cases.

>

> I liked Dr. DiMauro's answer better for the

> pragmatic, non-scientific

> reason that I'd have to travel to get a fresh biopsy

> and travelling is

> very difficult for me. But I know some of you have

> had both types

> done. Did you get different results with each type?

> If so, could the

> different results be attributable to the specific

> type of mito you

> have? Or, could it simply be that people with mito

> test differently

> at different points in their illnesses? Or, do you

> believe that the

> fresh-frozen issue was the key?

>

> Best,

> Shayna

>

>

>

>

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

--I second that. I wish I would of had a fresh biopsy the first

time. My frozen biopsy did not yield enough information. Now I need

to have a fresh one,

Dawn ANich

- In , dgregori wrote:

>

> Since I had several frozen biopsies with differing results and the

only

> biopsy that came up with mito was a fresh one, I say fresh ,

unless you

> want to take the chance of having to have another one that is

fresh

> after the frozen one. YMMV.

>

>

>

> shaynapearl wrote:

>

> >Since I'll be having a biopsy in November, I've been looking into

the

> >fresh vs. frozen question. I called Dr. Cohen's office and a

nurse

> >called back and said they only do fresh ones. They believe it's

much

> >better. Then I called Dr. DiMauro (who I actually spoke with

> >directly). He was convinced that frozen is fine in the vast

majority

> >of cases.

> >

> >I liked Dr. DiMauro's answer better for the pragmatic, non-

scientific

> >reason that I'd have to travel to get a fresh biopsy and

travelling is

> >very difficult for me. But I know some of you have had both types

> >done. Did you get different results with each type? If so, could

the

> >different results be attributable to the specific type of mito

you

> >have? Or, could it simply be that people with mito test

differently

> >at different points in their illnesses? Or, do you believe that

the

> >fresh-frozen issue was the key?

> >

> >Best,

> >Shayna

> >

> >

> >

> >

> >

> >

> >Medical advice, information, opinions, data and statements

contained herein are not necessarily those of the list moderators.

The author of this e mail is entirely responsible for its content.

List members are reminded of their responsibility to evaluate the

content of the postings and consult with their physicians regarding

changes in their own treatment.

> >

> >Personal attacks are not permitted on the list and anyone who

sends one is automatically moderated or removed depending on the

severity of the attack.

> >

> >

[Guest guest]

--I second that. I wish I would of had a fresh biopsy the first

time. My frozen biopsy did not yield enough information. Now I need

to have a fresh one,

Dawn ANich

- In , dgregori wrote:

>

> Since I had several frozen biopsies with differing results and the

only

> biopsy that came up with mito was a fresh one, I say fresh ,

unless you

> want to take the chance of having to have another one that is

fresh

> after the frozen one. YMMV.

>

>

>

> shaynapearl wrote:

>

> >Since I'll be having a biopsy in November, I've been looking into

the

> >fresh vs. frozen question. I called Dr. Cohen's office and a

nurse

> >called back and said they only do fresh ones. They believe it's

much

> >better. Then I called Dr. DiMauro (who I actually spoke with

> >directly). He was convinced that frozen is fine in the vast

majority

> >of cases.

> >

> >I liked Dr. DiMauro's answer better for the pragmatic, non-

scientific

> >reason that I'd have to travel to get a fresh biopsy and

travelling is

> >very difficult for me. But I know some of you have had both types

> >done. Did you get different results with each type? If so, could

the

> >different results be attributable to the specific type of mito

you

> >have? Or, could it simply be that people with mito test

differently

> >at different points in their illnesses? Or, do you believe that

the

> >fresh-frozen issue was the key?

> >

> >Best,

> >Shayna

> >

> >

> >

> >

> >

> >

> >Medical advice, information, opinions, data and statements

contained herein are not necessarily those of the list moderators.

The author of this e mail is entirely responsible for its content.

List members are reminded of their responsibility to evaluate the

content of the postings and consult with their physicians regarding

changes in their own treatment.

> >

> >Personal attacks are not permitted on the list and anyone who

sends one is automatically moderated or removed depending on the

severity of the attack.

> >

> >

[Guest guest]

Shayna

I had 4 frozen biopsies that were not diagnostic for mito and then 2

fresh that were. For me, the fresh was necessary. I'm glad there

shouldn't be anymore biopsies since they are repeating them in the

same muscle now, although a different spot.

laurie

> Since I'll be having a biopsy in November, I've been looking into the

> fresh vs. frozen question. I called Dr. Cohen's office and a nurse

> called back and said they only do fresh ones. They believe it's much

> better. Then I called Dr. DiMauro (who I actually spoke with

> directly). He was convinced that frozen is fine in the vast majority

> of cases.

>

> I liked Dr. DiMauro's answer better for the pragmatic, non-scientific

> reason that I'd have to travel to get a fresh biopsy and travelling is

> very difficult for me. But I know some of you have had both types

> done. Did you get different results with each type? If so, could the

> different results be attributable to the specific type of mito you

> have? Or, could it simply be that people with mito test differently

> at different points in their illnesses? Or, do you believe that the

> fresh-frozen issue was the key?

>

> Best,

> Shayna

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

>

>

[Guest guest]

Well, as you have gathered, this is a controversial subject, and some people

have strong feelings one way or the other. Personally, I have never heard of

an individual case where the mitochondrial respiratory chain enzymes were

measured and found normal in a frozen biopsy and later measured and found

deficient in a fresh biopsy.

The reason most frozen biopsies have been non-diagnostic is that the correct

tests simply weren't done--that is, the respiratory enzymes were not assayed

at all. You can't diagnose mitochondrial respiratory chain deficiencies

without assaying those enzymes. Too many frozen biopsies have been ordered

by physicians who don't know enough about these disorders to know which

tests to order. If the initial electron microscopy looks " normal, " then

often further tests are not performed.

DiMauro did my original CPT diagnosis via frozen tissue in 1983. It has

since been validated by two other well-known researchers in two different

labs. My respiratory chain deficiencies diagnosis was also done on frozen

tissue. HOWEVER, it is very important that the frozen tissue be handled

correctly, shipped properly, and tested by one of a handful of experts whose

work is reliable. My results from 6 biopsies (most for research) have held

up under scrutiny and retesting in cultured fibroblasts.

Also regarding quality control, my long-time physician came to OR himself in

scrubs (with his research assistant in tow) and personally oversaw the

freezing of all my tissue. He says surgeons are too busy with surgery to be

trusted to handle the tissue with meticulous care. This routine has paid off

for me.

DiMauro and Vladutiu acknowledge that there can be problems in handling

frozen tissue, but a good lab will have protocols in place to test the

tissue and make sure it is viable. DiMauro and Vladutiu also point out that

there can be problems in handling fresh tissue. One issue, as I recall, is

that putting fresh cells in the centrifuge can sometimes break up cells and

result in false positives.

In fresh or frozen, there can be false positives and false negatives. The

science isn't perfect. Bottom line IMO is that who is doing the testing and

the ordering of tests is more important than whether the tissue is fresh or

frozen. You need a reputable expert handling the tissue period, and that is

your best bet for getting accurate results.

Barbara

> Cohen vs. DiMauro on fresh vs. frozen

>

> Since I'll be having a biopsy in November, I've been looking into the

> fresh vs. frozen question. I called Dr. Cohen's office and a nurse

> called back and said they only do fresh ones. They believe it's much

> better. Then I called Dr. DiMauro (who I actually spoke with

> directly). He was convinced that frozen is fine in the vast majority

> of cases.

>

> I liked Dr. DiMauro's answer better for the pragmatic, non-scientific

> reason that I'd have to travel to get a fresh biopsy and travelling is

> very difficult for me. But I know some of you have had both types

> done. Did you get different results with each type? If so, could the

> different results be attributable to the specific type of mito you

> have? Or, could it simply be that people with mito test differently

> at different points in their illnesses? Or, do you believe that the

> fresh-frozen issue was the key?

>

> Best,

> Shayna

[Guest guest]

Vivian

Actually I had six in all. The interesting thing is that the two fresh

ones are in the same muscle. I didn't realize that until just now. I

was re-organizing my medical notebook today and I had my first biopsy

in 83 - doesn't seem like it was that long ago. I have also had a

couple of breast biopsies. I'm just a body covered in scars and mine

are nasty looking. The Ehuler Danlos Syndrome causes large ugly scars.

Since I don't have a bikini figure, who cares about the scars.

I had with me when I had the two fresh ones which was nice. Of

course, I don't get after surgery like she does. Sorry, sis!

laurie

> Hugs Laurie...4!!! I barely got through one....I don't know how you did it.

> Vivian

>

[Guest guest]

Vivian

I think the preferred muscle in most cases is the front to side of the

upper leg. I've had four there, one on the lower leg and one on my

upper arm.

I had locals for 4, one with skin anesthesia only (very painful) and 2 spinals.

I hope you don't have to have the dream come true.

laurie

> and reverting to an old argument (smile) did these 6 biopsies have

> pain killers involved or not. Interesting timing on the discussion as last

> night I dreamed I had to have another biopsy.....what muscle is preferred for

> this if any? By the way I have spoken with Billy de Mauro his is a

wonderfully

> warm and caring man at Columbia Pres...but his specialty is mitochondrial gi.

> Vivian

>

>

>

[Guest guest]

I was told that since an oxidative phoshorylation defect was most

likely in my case, based on my symptoms and similarity to MELAS (but

not MELAS), I needed a fresh muscle biopsy in order to test the

oxidative phosphorylation " chain " .

I've heard that argument from C-P before, and as a scientist, I don't

buy it. Saying that the activity of a protein complex is unaffected

by freezing seems doubtful at best.

However, if you're up for possibly repeating the muscle biopsy, why

not try the most local option, then see if that shows results? I

decided not to go to C-P, which is relatively local for me, and went

to Atlanta instead for the fresh muscle biopsy (why I noted above).

The result was positive for a complete Complex I defect. Has anyone

had that (or a similar) dx/conclusion from C-P (do they say that they

measure complex activity)?

Take care,

RH

>

> Since I'll be having a biopsy in November, I've been looking into

the

> fresh vs. frozen question. I called Dr. Cohen's office and a nurse

> called back and said they only do fresh ones. They believe it's

much

> better. Then I called Dr. DiMauro (who I actually spoke with

> directly). He was convinced that frozen is fine in the vast

majority

> of cases.

>

> I liked Dr. DiMauro's answer better for the pragmatic, non-

scientific

> reason that I'd have to travel to get a fresh biopsy and travelling

is

> very difficult for me. But I know some of you have had both types

> done. Did you get different results with each type? If so, could

the

> different results be attributable to the specific type of mito you

> have? Or, could it simply be that people with mito test

differently

> at different points in their illnesses? Or, do you believe that

the

> fresh-frozen issue was the key?

>

> Best,

> Shayna

>

[Guest guest]

> DiMauro and Vladutiu acknowledge that there can be problems in

> handling frozen tissue, but a good lab will have protocols in place

> to test the tissue and make sure it is viable. DiMauro and Vladutiu

> also point out that there can be problems in handling fresh tissue.

> One issue, as I recall, is that putting fresh cells in the

> centrifuge can sometimes break up cells and

> result in false positives.

Having talked to both Dr. Shoffner and lab personnel at C-P, I'm

feeling that there is a bit of competition between the " frozen "

vs. " fresh " camps, namely that C-P thinks that their lab is capable

enough to test on frozen samples, and other labs " aren't " .

The push for me NOT to go to C-P was that three years ago, when I had

my muscle biopsy, they had a complete overhaul of their lab personnel

(I was told this by a lab worker and my C-P neuro, backed up by my

MDA neuro) and stopped doing muscle biopsies for a while (months from

what I heard). Hopefully everything is hunky-dory now, but I didn't

want to wait for them to get themselves in order and hope the new

personnel knew what they were doing.

Now that it has been three years, I would hope they are now back on

track with their muscle biopsies. But I wasn't overall impressed

with C-P, and I was told that Dr. DiMauro did not see patients so was

seeing a general neuro there.

It is interesting to think that C-P has methods available to test

frozen tissue for complex activity, but other labs " need " to use

fresh tissue for such tests (or is that an incorrect

interpretation?). I see so many posts about Dr. Shoffner's lab in

Atlanta, how many (in addition to Barbara) have been dx'd at C-P in

NYC I wonder?

Take care,

RH

[Guest guest]

We were offered a frozen biopsy by a neuro who worked

under Cohen at one time. She insisted that frozen is

better. Now, I must tell you that she's the only

person I've heard say that. We refused. From what I

understand, frozen biopsies offer accurate results

about half the time. Those odds are just not good

enough for us. We have not yet had biopsies but are

treating my son with the mito cocktail. He's had a

remarkable clinical improvement.

Mom to the two best kids in the world!

http://www.caringbridge.org/visit/thomasandkatie

__________________________________

Start your day with Yahoo! - Make it your home page!

http://www.yahoo.com/r/hs

[Guest guest]

Both Dr. Shoffner's lab and Dr. Hoppel's lab will

analyze frozen tissue that has been properly prepared

for RTC activity. They each admit, though, that the

freeze thaw process is affected and may affect the

results.

I do know of others that have been diagnoised at

COlumbia via frozen specimen but the number is small.

I also know of a number who received a negative result

from there and later had fresh biopsies in either

Atlanta or Cleveland and received confirmation of

diagnosis.

And, there are major political issues between some of

the centers/physicians in regards to testing and

diagnosis. We've gotten caught in some of those

political issues. inadvertently, which is part of the

reason one of my daughters has now had three muscle

biopsies.

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

[Guest guest]

I had frozen and got my diagnosis and everything went fine, The muscle was

shipped back to Vladitiu.

she did an excellent job. She was referred to me by UCSD.

[Guest guest]

(laughing) unlike so many here and my heart goes out to them especially when

children are involved mine was done properly from the very first under

Shoffner's direction and so my diagnosis was rapid (again unusual) I did,

however

choose my upper left arm as a site since I use my legs for insulin injections.

The surgeon was not very happy to be that close to me. I too just had a local

and it was all I could do to stay on the table. Vivian

[Guest guest]

I was also diagnosed by Dr. DiMauro through a frozen sample. They tested

some of the muscle locally, but did not know what they were looking for.

The rest was shipped to Dr. DiMauro right away and he found mito. This

was back in 1995, so probably before the reshuffling of the lab people.

The diagnosis has been confirmed by skin biopsies.

Smiles,

a

On Thu, 13 Oct 2005 03:29:04 -0000 " ohgminion " rakshasis@...>

writes:

> DiMauro and Vladutiu acknowledge that there can be problems in

> handling frozen tissue, but a good lab will have protocols in place

> to test the tissue and make sure it is viable. DiMauro and Vladutiu

> also point out that there can be problems in handling fresh tissue.

> One issue, as I recall, is that putting fresh cells in the

> centrifuge can sometimes break up cells and

> result in false positives.

It is interesting to think that C-P has methods available to test

frozen tissue for complex activity, but other labs " need " to use

fresh tissue for such tests (or is that an incorrect

interpretation?). I see so many posts about Dr. Shoffner's lab in

Atlanta, how many (in addition to Barbara) have been dx'd at C-P in

NYC I wonder?

Take care,

RH

Medical advice, information, opinions, data and statements contained

herein are not necessarily those of the list moderators. The author of

this e mail is entirely responsible for its content. List members are

reminded of their responsibility to evaluate the content of the postings

and consult with their physicians regarding changes in their own

treatment.

Personal attacks are not permitted on the list and anyone who sends one

is automatically moderated or removed depending on the severity of the

attack.

[Guest guest]

Both of my biopsies were frozen. I still don't have results from my 2nd one.

And , I did not have any pain meds- just a little local ansethesia to numb the

skin but not the muscle and it was VERY painful! I really would not want to have

a third one.

Vcgpg@... wrote:

and reverting to an old argument (smile) did these 6 biopsies have

pain killers involved or not. Interesting timing on the discussion as last

night I dreamed I had to have another biopsy.....what muscle is preferred for

this if any? By the way I have spoken with Billy de Mauro his is a wonderfully

warm and caring man at Columbia Pres...but his specialty is mitochondrial gi.

Vivian

[Guest guest]

One thing my MDA neuro said is that she didn't expect macroscopic

changes in my mitochondria, changes like ragged red fibers, or changes

in size or distribution. That kind of info can be gotten from a

frozen muscle biopsy sample. Indeed, my results didn't show any

macroscopic changes typical of mito, although they did see dead tissue

(necrosis) which made them wonder but they don't have an answer as to

why that might be.

I really did find that Shoffner's office was very good about

supporting me and my family in terms of trip planning, giving

information on disabled rates for public transportation and the local

Mc house, as well as Angel Flights info. The support of

my husband and family helped a lot to get the procedure done, and I'll

have to look up the surgeon that did the muscle biopsy, as it was

painful, but not ridiculously so (and he added local anesthetic when I

mentioned feeling pain at the site during the procedure).

As I may have mentioned before, I used the trip to Atlanta as an

excuse to go to Florida and have a bit of a vacation too.

Take care,

RH

>

> I had frozen and got my diagnosis and everything went fine, The

muscle was

> shipped back to Vladitiu.

> she did an excellent job. She was referred to me by UCSD.

>

>

>

>

[Guest guest]

Do you remember how many cuts were made when you had this done. They

only made six cuts - three muscle fibers. I was told later, much

later, that they can't do a respiratory chain test on so little a

sample. They got more tissue with the needle biopsy - I asked to see

it.

laurie

> Both of my biopsies were frozen. I still don't have results from my 2nd one.

And , I did not have any pain meds- just a little local ansethesia to numb the

skin but not the muscle and it was VERY painful! I really would not want to have

a third one.

>

>

>

> Vcgpg@... wrote:

> and reverting to an old argument (smile) did these 6 biopsies have

> pain killers involved or not. Interesting timing on the discussion as last

> night I dreamed I had to have another biopsy.....what muscle is preferred for

> this if any? By the way I have spoken with Billy de Mauro his is a

wonderfully

> warm and caring man at Columbia Pres...but his specialty is mitochondrial gi.

> Vivian

>

>

>

[Guest guest]

Laurie,

They took about 3 good size pieces - Athena said they needed 100 mg of

tissue-whatever that is. But it really hurt .I am hoping my results will be in

soon.

Laurie Fitzgerald laurie.fitzgerald@...> wrote:

Do you remember how many cuts were made when you had this done. They

only made six cuts - three muscle fibers. I was told later, much

later, that they can't do a respiratory chain test on so little a

sample. They got more tissue with the needle biopsy - I asked to see

it.

laurie

> Both of my biopsies were frozen. I still don't have results from my 2nd one.

And , I did not have any pain meds- just a little local ansethesia to numb the

skin but not the muscle and it was VERY painful! I really would not want to have

a third one.

>

>

>

> Vcgpg@... wrote:

> and reverting to an old argument (smile) did these 6 biopsies have

> pain killers involved or not. Interesting timing on the discussion as last

> night I dreamed I had to have another biopsy.....what muscle is preferred for

> this if any? By the way I have spoken with Billy de Mauro his is a

wonderfully

> warm and caring man at Columbia Pres...but his specialty is mitochondrial gi.

> Vivian

>

>

>