Search results

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...

I have a low allele frequency mutation in the gene for the first step in the synthesis of plasmalogens. It could be a coincidence but it's also suspicious. Also a mutation in a choline transporter that is involved in the synthesis of phospholipids and acetylcholine. Affordable whole genome...

It seems that lipid accumulation or abnormalities that suggest lipid accumulation might be occurring keep coming up in various studies. A patient here on the forum also had a muscle biopsy which showed increased lipids and was not definitive enough for another diagnosis.

Lately I've had concerning levels of some kind of breathing problem or air hunger. Undoubtedly in part caused by the hot summer, but I also noticed how it got worse during physical activity and lasted a day. Maybe a return of my childhood asthma, now in more insidious and chronic form instead...

I found something that might be part of the genetics of ME/CFS or associated illnesses. The chance that this is important is probably low but it's still encouraging. We should be studying more families where people have ME/CFS and associated illnesses like POTS or orthostatic hypotension. I'm in...

Is it depression if someone with an incurable illness that is not taken seriously does not feel hopeful about the future? Or just a realistic assessment, and when that hopelessness is expressed to another person, a way to communicate that help is needed? Why pathologize that? It seems cruel and...

I'm not getting the impression that the authors are biased towards psychogenic explanations. The questionnaire they used initially was developed for somatization. Maybe they were expecting to find evidence for psychogenic causes but changed their mind as the data came in? Anyway, one concern is...

Another interesting mutation in the PRKAG3 gene, although difficult to interpret and not clearly pathogenic.

I'm assuming that by "significant differences" they mean those that were statistically significant. These were: Self-reported EDS Family history of EDS Self-reported POTS Loss of balance, unsteadiness on feet when standing or inability to focus vision There are some other differences listed...