Oct. 18th, 2016 04:56 pm
rainbow: drawing of a pink furred cat person with purple eyes and heart shaped glasses. their name is catastrfy. (Default)
[personal profile] rainbow
oh man, this is FASCINATING -- a genetic link: duplication or triplication of a gene called TPSAB1, which leads to high tryptase levels.

Mental Floss reported on it yesterday here.

"The latest study, led by Joshua Milner at the National Institute of Allergy and Infectious Diseases, involved 96 people with EDS-HT and mast cell issues. POTS symptoms were common, especially gut problems like Irritable Bowel Syndrome.

The study participants had another thing in common: higher-than-normal levels of a protein called tryptase in their blood. Tryptase is part of the immune system’s reaction and has been linked to a handful of core EDS-HT and POTS symptoms, Milner says.

"Tryptase can contribute to pain sensitivity," he told me. "It can contribute to blood vessels doing funny things, and it can contribute to how your connective tissue, your bones and joints, are made."

Most people with mast cell issues actually have normal levels of tryptase, so the group Milner and his colleagues tested represented just a small subset of mast cell patients. But that subset did seem to have a unique genetic signature: an extra copy of a gene called TPSAB1. Under normal circumstances, TPSAB1 makes a form of tryptase called alpha-tryptase. People with a double dose of the gene are getting a double dose of the protein, too."

The article is available at nature.com here

"Elevated basal serum tryptase levels are present in 4–6% of
the general population, but the cause and relevance of such
increases are unknown. Previously, we described subjects
with dominantly inherited elevated basal serum tryptase levels
associated with multisystem complaints including cutaneous
flushing and pruritus, dysautonomia, functional gastrointestinal
symptoms, chronic pain, and connective tissue abnormalities,
including joint hypermobility. Here we report the identification
of germline duplications and triplications in the TPSAB1 gene
encoding a-tryptase that segregate with inherited increases
in basal serum tryptase levels in 35 families presenting with
associated multisystem complaints. Individuals harboring alleles
encoding three copies of a-tryptase had higher basal serum levels
of tryptase and were more symptomatic than those with alleles
encoding two copies, suggesting a gene-dose effect. Further, we
found in two additional cohorts (172 individuals) that elevated
basal serum tryptase levels were exclusively associated with
duplication of a-tryptase–encoding sequence in TPSAB1, and
affected individuals reported symptom complexes seen in our
initial familial cohort. Thus, our findings link duplications in
TPSAB1 with irritable bowel syndrome, cutaneous complaints,
connective tissue abnormalities, and dysautonomia"

table one? is me except for the beighton score (i was dxed with eds in 72, before the beighton scale was developed) and i had only a "poor man's tilt table test", which was positive.

i found the compass-31 scale online and took it -- raw 51.5, weighted 70.1. i couldn't find a reference scale, but i'mpretty sure that's more than a bit high.

i am FASCINATED by this. so much so that i emailed one of the authors askingif SNPs had been identified that i could look up in my autosomal dna results.
rainbow: drawing of a pink furred cat person with purple eyes and heart shaped glasses. their name is catastrfy. (Default)
[personal profile] rainbow

REVIEW: ChiroDoc Memory Foam Coccyx Cushion

photo )

I really like this cushion; it's much, much better than the plain foam cusions I've been using.

This one is memory foam and is split at the back to avoid pressure on the coccyx. I am able to sit longer with less pain than I could before! (I have Ehlers-Danlos Syndrome, so I still have a lot of pain. But being able to sit comfortably for longer is fabulous!).

My husband also really loves it; when he sits at his computer using his plain foam cushions, he gets low back pain very quickly. When he used my computer with this cusion, no low back pain!

The cover is a velour sort of fabric. It slides around on my chair if it's on the leather, but on top of the afghan my grandmother made years ago, it stays in place perfectly. I'm also pleased that there's no odor to it.

There was an issue with shipping via UPS (who lost the original package), but ChiroDoc was wonderful about Fed-Exing a replacement that got to me SUPER fast.

4.5 stars! (and 5 from the husband-cat!)

ChiroDoc sent me this cushion at no cost and asked me to give it an honest review. Thank you, ChiroDoc!

You can find it here: http://www.amazon.com/ChiroDoc-Coccyx-Cushion-Breathable-Ergonomic/dp/B01B7EULE2

#ChiroDoc #SeatCushion #Coccyx


dee_burris: (Default)
Dee Burris Blakley

October 2016


Shakin' the Family Tree on Facebook

Most Popular Tags

Style Credit

Expand Cut Tags

No cut tags
Page generated Oct. 28th, 2016 03:58 pm
Powered by Dreamwidth Studios