Search results

: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...

Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic imbalance and clinical disease. However, reality has never been quite that simple, and the classic...

In this study, the authors reported that "those with ME/CFS have fewer mildly deleterious [mitochondrial DNA] variants than controls". One of the possible interpretations of this is that those with deleterious mtDNA variants are more likely to be removed from the category of ME/CFS (for example...

https://bcmj.org/articles/mitochondrial-disease-clinical-manifestations-overview This has some comments on adult-onset mitochondrial disease which is relevant to ME/CFS in my opinion. The authors say that: Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age...

If one were to measure the harm and costs caused by neglecting sick people at the level of whole society, it might end up costing more than what is saved. But nobody has done this kind of calculation I think. Neglecting sick people soon results in the sick becoming very sick and needing even...

We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated that clinical disease can result from heterozygous mutations in more than one gene in single or related metabolic pathways. Mice with combinations of...

Inborn errors of metabolism show considerable variation in the severity of symptoms. This is often ascribed to the differential effects of specific muta- tions on gene/enzyme function; however, such geno- type/phenotype correlations are usually imprecise. In addition, in some patients with...

I bought a month of access to an online tool that can do "gene panels". It is called gene.iobio

Small update on the fatty acid oxidation mutation. After applying a healthy dose of skepticism and doing some research, I think this a genuine finding, with a real impact on enzyme activity (I found a paper with a patient that had the same kind of heterozygous mutation where enzyme activity was...