Guest guest Posted April 16, 2006 Report Share Posted April 16, 2006 Joanne, biopsy was done in St. Louis. interesting info on the false negatives. and of course they were not planning on ETC studies or anything but histology. has it happened for you or anyone else in this group that their slides showed no ragged red fibers or COX/SDH changes and yet were still later found to have mito from biochem tests? > > Hi Kent, > > Where was the biopsy done? If it was a frozen specimen, there is less than a 50% that you will get a metabolic/mitochondrial disease diagnosis, ie there are many FALSE NEGATIVES. Glycogen storage disease are inter-related. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 16, 2006 Report Share Posted April 16, 2006 Laurie, can't get the insurance co. to agree to anything but frozen biopsies. can't get into Dr. Cohen but could in the future get in to someone in Cleveland if MDA doc orders a fresh biopsy. still would have the problem of not being able to afford it unless insurance covers. kent > > Kent > > The lab doing the testing and the tests ordered are so very, very > important. My son and I had one diagnosis and my sister another based > on one of our initial biopsies (frozen) which didn't make sense > genitically. It all came together when we had fresh biopsies and mito > was diagnosed in all of us. > > laurie > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 16, 2006 Report Share Posted April 16, 2006 Hi Kent, My girls did NOT have any red ragged fibers or COX/SDH changes but definitely HAVE deficiencies in Complex I, III, IV and/or ANT on fresh biopsy. lies' initial biopsy was frozen and the ONLY abnormality identified was mitochondrial proliferation. has it happened for you or anyone else in this group that their slides showed no ragged red fibers or COX/SDH changes and yet were still later found to have mito from biochem tests? Joanne Kocourek (mom to , lies, and ) visit us at: http://www.caringbridge.org/il/annakris Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 Kent, I had no raggged red fibers or COX changes. Yet I have no complex II or III. My daughter also had no RRF or cox changes and has complex ii def. not all mito has RRF look at leighs one of the more severe diseases there are no changes in the biopsy, and often the biopsy is normal. I just read somewhere yesterday that most mito diseases show no RRF except MELAS and MERRF. Ill have to try to find it again. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 I got back a GSD dx on a frozen bx, and my fresh clearly shows complex I & II defect of the OXPHOS chain. If OXPHOS testing isn't done (which most of the time can't be done on frozen accurately), I don't see that they can tell you for sure you don't have mito. I have been told by more than one mito doc that just because a test for mito doesn't come back positive, doesn't mean you don't have mito. Did you pre-screening labs show anything before the bx was done? kent wrote: >hi all, >just got the results back from my latest mbx. showed no COX/SDH or >gomouri trichrome evidence of mito. there were some pale NADH areas, >but i'm not sure what that means. i thought that was a mito >indicator, too. they found no inclusion bodies, so this test shows i >don't have IBM either. it was down to IBM and mito, but they say i >have neither. they did see some areas that were PAS positive and are >running more tests on the same sample for glycogen. they also want to >test the same sample for dystrohy related proteins. so it looks like >i have gone from thinking we were narrowing the diagnosis down to one >of two to thinking that i have neither and finding there may be two >new possibilities. does anyone know anything about glycogen storage >diseases? even if it turns out i don't have mito, i hope you won't >mind if i stick around on this board. i have gleaned so much good >information and encouragement from so many of you. >kent > > > > > >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. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 Joanne, thanks for the info. just curious, but how do you have mito proliferation without showing rrf's? is it a matter of degree of overproduction of mito or is it from another test, like electron microscopy? kent > > Hi Kent, > initial biopsy was frozen and the ONLY abnormality identified was mitochondrial proliferation. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 Hi Kent, Mitochondrial proliferation is an over production of mitochondria. When muscle fibers are stained with Gomori trichrome stain, an abnormal accumulation of enlarged mitochondria is seen beneath the sarcolemma. These fibers are called ragged red fibers due to their unusual appearance and dark red color. Some mitochondrial myopathies do ot have ragged red fibers. However, sometimes electron microscopy of the muscle may disclose abnormal mitochondria without the presence of ragged fibers. The absence of ragged fibers does not exclude mitochondrial disorders. kent thegaffer23@...> wrote: Joanne, thanks for the info. just curious, but how do you have mito proliferation without showing rrf's? is it a matter of degree of overproduction of mito or is it from another test, like electron microscopy? kent > > Hi Kent, > initial biopsy was frozen and the ONLY abnormality identified was mitochondrial proliferation. > > 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. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 , aldolase, SGPT, monocytes and eosinophylls were high (inflamatory myopathy?). acylcarnitines were slightly up, while carnitine and free carnitine were normal (FOD?). alpha 2 proteins were low. glucose in cerebral spinal fluid was slightly high. pyruvate was slightly up with lactate in the low end of the normal range (yes, you read that right, i didn't type it backwards. l/p ratio of 7). Sed rate was high 7 years ago but went lower, then back to 10 (out of 0-15) with recent worsening of symptoms. muscle biopsy (also frozen) seven years ago showed " minimal increae of subsarcolemmel staining of many " type 1 and some type 2 fibers with NADH, COX and SDH (complex III?) while many fibers, mainly type 2, showed lack of staining in the center. even though my new MDA neuro is great, he admits he doesn't know much about mito. getting insurance to cover a fresh biopsy has proven very hard so far and i don't know if the new ins company will be any better about ref for fresh either. kent > > Did you pre-screening > labs show anything before the bx was done? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 Joanne, great info, confirming some things I already knew and some i suspected. is the passage below a quote from a source that i could take to my docs? if not, is there a source that has this info in print? (not that they won't believe you and me, but you know how docs loved to be told info by other docs). btw they said they were going to do EM seven years ago but i have no record that they ever did. kent > > > Some mitochondrial myopathies do ot have ragged red fibers. However, sometimes electron microscopy of the muscle may disclose abnormal mitochondria without the presence of ragged fibers. The absence of ragged fibers does not exclude mitochondrial disorders. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 I located it in a PubMed search. When I have more time I'll look and see if I can find the specific article again. I've got to run and see several of my patients now. kent thegaffer23@...> wrote: Joanne, great info, confirming some things I already knew and some i suspected. is the passage below a quote from a source that i could take to my docs? if not, is there a source that has this info in print? (not that they won't believe you and me, but you know how docs loved to be told info by other docs). btw they said they were going to do EM seven years ago but i have no record that they ever did. kent > > > Some mitochondrial myopathies do ot have ragged red fibers. However, sometimes electron microscopy of the muscle may disclose abnormal mitochondria without the presence of ragged fibers. The absence of ragged fibers does not exclude mitochondrial disorders. > > 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. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 Joanne, i found the quote. it is from an MDA ask the experts answer by Dr. A. , MDA Clinic Dir. in New Orleans " Most mitochondrial myopathies do have ragged red fibers. However, sometimes electron microscopy of the muscle may disclose abnormal mitochondria without the presence of ragged fibers. The absence of ragged fibers does not exclude mitochondrial disorders. " thanks, kent > > > > > > Some mitochondrial myopathies do ot have ragged red fibers. > However, sometimes electron microscopy of the muscle may disclose > abnormal mitochondria without the presence of ragged fibers. The > absence of ragged fibers does not exclude mitochondrial disorders. > > > > > > > > > > > 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. > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 17, 2006 Report Share Posted April 17, 2006 My fresh muscle biopsy didn't show any ragged red fibers, yet a complete Complex I defect was found in their lab tests. I had some other cell changes, but none specific to mito. Take care, RH > > > > Hi Kent, > > > > Where was the biopsy done? If it was a frozen specimen, there is > less than a 50% that you will get a metabolic/mitochondrial disease > diagnosis, ie there are many FALSE NEGATIVES. Glycogen storage disease > are inter-related. > Quote Link to comment Share on other sites More sharing options...
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