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I was contacted and told the preliminary results of the biopsy. It is clearly abnormal (in the words of the doctor) and there was a suspicion of myositis, which was subsequently ruled out. I'm now waiting for the full results.

The problem is that there is a very thin line that separates genuinely excessive worry from normal levels of worrying that is judged excessive due to ignorance of what normal should be like in that particular situation or due not having a complete picture of the situation, or from an inability...

One of the SNPs more strongly associated with orthostatic hypotension in this study is a gene that plays a role in B cells and is exploited by the Epstein-Barr virus. The mechanism by which this SNP causes orthostatic hypotension could be autoimmunity. The gene is also associated with lymphoma...

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3442958/

I speak slowly to hide the difficulty I have in constructing sentences at normal speed. In part this is word finding difficulties.

I was curious what the data on genes in ME/CFS was like. One of the databases they used was disgenet.org. disgenet.org. reports an association with the FURIN gene. Unfortunately the database contains garbage. Just look at this https://www.disgenet.org/browser/0/1/1/C0015674/ Amusingly, the...

I'm pretty sure there is something abnormal going on with the joints of a subgroup of patients but it's not showing up in controlled studies designed to detect an assocation between hypermobility and ME/CFS. That could mean it's a very small subgroup or that there is no association with ME/CFS...

Isn't it strange how the people who reduce every problem to "wrong thoughts and behaviour" also mention "biomedical reductionism" a lot? Also, it's not a competition to produce the most complex or holistic hypothesis, but one to prove a hypothesis correct and find a working treatment.

Not sure if this qualifies as extensively but I've had a workup that included thyroid tests, and two stimulation tests to see if the pituitary and adrenal gland were responsive. A cortisol curve over the day, 24 hour catecholamines, pituitary homones. MRI of the head which found a flattened...

Having seen more of the content in this book now, the author is depicting ME, POTS and fibromyalgia very negatively. One patient is a faker, another a bully. A person on Twitter said the way these illnesses are described is also inaccurate.

My Nebula Genomics report said that I have more risk factor variants for MS than almost everyone else in their database. I doubt they have a large database but still.

Out of curiosity, I looked at the SNPs and I have 8 out of 14. These are all very common SNPs. I didn't study statistics and so I'm not able to do a sophisticated statistical analysis to find out whether this is reliably above chance level or not. Still being very curious, the best I could do...

Do they say anything about PEM? Is PEM found in these other illnesses?

Sequence Variant Nomenclature This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean. Ensembl This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background. ClinVar A public archive of the...

I have read in two different articles that beta-adrenergic signalling is linked to peroxisome activity. People with a genetic disorder that impacts peroxisome formation have more beta-adrenergic receptors on their cells. In cell cultures, beta-adrenergic stimulation also reduces peroxisome gene...

I have questions: Do they think that plasmalogens could be a useful drug target? I noticed that there is some interest in treating other diseases with plasmalogen replacement. Do they think carnitine supplement could be an effective treatment? Do they have any thoughts on what could be...

The authors are labeling adolescents that are SARS-CoV-2 negative as having long covid. In table 1 they report 28% prevalence of long covid in this group while the prevalence should be 0% if they used a definition of long covid that required being SARS-CoV-2 positive. They also measured...

This seems to have been the CLOCK study's originally intended definition of long covid: https://adc.bmj.com/content/107/7/674 It's not very clear but it seems that this definition of long covid was then used in this study Did the authors engage in case definition switching or am I...

Why is it garbage?

Some genes have a large number of variants. For example my HLA-DQA1 gene has 1244 :eek:. Here the software highlights 17 of them as being of possible interest. None of these are probably doing anything significant. The HLA genes seem to be the among worst in terms of sheer number of mutations...