Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Background and aim "Gain-of-function" mutations in voltage-gated sodium channel NaV1.7 have been linked to erythromelalgia (EM), characterized by painful hot and red hands and feet. We investigated the proportion of patients with EM that carry a mutation in NaV1.

Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7.

Seven patients diagnosed with erythromelalgia (EM) were investigated by microneurography to record from unmyelinated nerve fibers in the peroneal nerve. Two patients had characterized variants of sodium channel Nav1.7 (I848T, I228M), whereas no mutations of coding regions of Navs were found in 5 patients with EM.

Diffuse reflectance spectroscopy: Systemic and microvascular oxygen saturation is linearly correlated and hypoxia leads to increased spatial heterogeneity of microvascular saturation.

The microvascular oxygen saturation (SmvO(2)) in the skin and tongue (sublingual mucosa) in pigs (n=6) was characterised using diffuse reflectance spectroscopy (DRS). The correlation between arterial oxygen saturation (SaO(2)) and SmvO(2) as well as the spatial heterogeneity of SmvO(2) was examined during hypoxia. DRS uses shallow-penetrating visible light to assess microvascular oxygen saturation (SmvO(2)) in superficial tissue.