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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...

:eek:

I spoke to a neurologist who agreed with everything I said about the possibility of "medium chain acyl-CoA dehydrogenase deficiency". He believes it would show up on my muscle biopsy. I'm waiting for the results of that. PS: and based on what I've read, this disease would not be able to explain...

Abstract Ephs and ephrins are membrane-bound proteins that interact to modulate axon growth and neuronal function. We tested the hypothesis that eph/ephrin interactions affected the growth and function of vascular sympathetic innervation. Using RT-PCR analyses, we detected both classes of ephs...

Mold exposure doesn't seem to have any credible evidence behind it as far as I know. I wouldn't mind if a good study was conducted, it just seems a bit odd to highlight this topic. Mast cells and and hypermobility / connective tissue problems seem to be speculative and perhaps relevant only to...

My summary In CFS subjects, phenylephrine reduces the decrease in cerebral blood flow that occurs during head up tilt testing. This had a positive impact on performance in a cognitive test. The study might hint at how to treat ME/CFS and at the underlying mechanisms of reduced cerebral blood...

Did you know that we all have a huge amount of genetic mutations? In some of my genes I have hundreds of mutations, in others just five or so. The difficulty is figuring out what these mutations do, and which ones are relevant to the problem we're trying to solve. We don't seem to know what the...

Small update: The fatty acid oxidation mutation found is in the gene corresponding to the disease "medium chain acyl-CoA dehydrogenase deficiency". As mentioned this is an autosomal recessive disease which would not be expected to manifest when only one of the two inherited genes is affected...

Generally speaking, having a mutation that is expected to cause disease does not mean that it will necessarily do so. I've read about this happening in various other diseases. Knowing that a person has a mutation is often not sufficient to diagnose a disease, one must also look at symptoms...

Some patient advocates are just incompetent. This also seems to be tied to the belief that ME/CFS is a continued infection by one specific virus. The antiviral Ampligen fits with that belief, and that the results are really weak, with terrible cost-benefit profile doesn't seem to register. If...

Society should accept too that we're disabled. Part of why patients find it difficult to accept that they're disabled is that society generally has a high resistance to accept that people with this illness are disabled. We ended up in the absurd situation where the patient's belief that they...

I think this is a good piece that uses mildly provocative language about giving up hope to first attract some attention, and then in the end, really say that patients need support and treatments.

It turns out cadherins and integrins play a role in the body's response to upright posture. If I understand all this right, a problem with these or more generally cell-cell adhesion could plausibly lead to orthostatic intolerance. And the body might respond to that problem by dumping lots of...