Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control

OBJECTIVES: Although pain is a common complication of the hypermobile type of Ehlers-Danlos syndrome, its underlying mechanisms are still an issue of controversy. In this psychophysical study, we aimed at testing small-fiber function and the endogenous pain inhibitory control in patients with pain due to Ehlers-Danlos syndrome. METHODS: In 22 patients with pain due to Ehlers-Danlos syndrome and 22 healthy participants, matched for age and sex, we tested small-fiber function using quantitative sensory testing and the endogenous pain inhibitory control using the conditioned pain modulation (CPM) protocol. As quantitative sensory testing methods, we included thermal pain and mechanical pain thresholds and the wind-up ratio. The CPM protocol consisted of two heat painful stimuli, that is, a test stimulus and a conditioning stimulus. RESULTS: All patients complained of widespread pain. Quantitative sensory testing revealed no small-fiber deficit; in the area of maximum pain, we found an increased wind-up ratio. Whereas in the healthy participants the CPM protocol showed that the test stimulus rating was significantly reduced during conditioning, in patients with pain due to hEDS, the test stimulus rating increased during conditioning. CONCLUSIONS: Our psychophysical study showing that patients with pain due to hEDS have an increased wind-up ratio in the area of maximum pain and abnormal CPM protocol suggests that in this condition, pain is associated with central sensitization, possibly due to deficit of the endogenous pain inhibitory control. These data might be relevant to pharmacological treatment

Small‐fibre damage is associated with distinct sensory phenotypes in patients with fibromyalgia and small‐fibre neuropathy

Background: In this clinical and psychophysical study, we aimed to verify whether patients with fibromyalgia with and without small-fibre pathology and patients with pure small-fibre neuropathy share common sensory phenotypes. Methods: Using an algorithm based on quantitative sensory testing variables, we grouped 64 consecutive patients with fibromyalgia (20 with small-fibre pathology, 44 without) and 30 patients with pure small-fibre neuropathy into different sensory phenotypes: sensory loss, thermal hyperalgesia, mechanical hyperalgesia and healthy phenotypes. Results: We found that the frequency of the different sensory phenotypes differed markedly between patients with fibromyalgia and patients with small-fibre neuropathy. In patients with fibromyalgia, with and without small-fibre pathology, healthy and hyperalgesia phenotypes (both thermal and mechanical) were similarly represented, whilst sensory loss and mechanical hyperalgesia phenotypes were the most frequent phenotypes in patients with small-fibre neuropathy. Conclusions: Our findings indicate that small-fibre damage is associated with distinct sensory phenotypes in patients with fibromyalgia and in patients with small-fibre neuropathy. The lack of phenotype differences between patients with fibromyalgia with and without small-fibre pathology and the relatively high frequency of the healthy phenotype in these patients highlight a complex relationship between small-fibre pathology and pain in patients with fibromyalgia

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Objective: To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy. Methods: We investigated by Sanger and targeted resequencing the SYN1 gene in 12 individuals from 10 different families presenting with seizures triggered primarily by bathing or showering. An additional 12 individuals with hot-water epilepsy were also screened. Results: In all families with bathing epilepsy, we identified 8 distinct pathogenic or likely pathogenic variants and 2 variants of unknown significance in SYN1, 9 of which are novel. Conversely, none of the individuals with hot-water epilepsy displayed SYN1 variants. In mutated individuals, seizures were typically triggered by showering or bathing regardless of the water temperature. Additional triggers included fingernail clipping, haircutting, or watching someone take a shower. Unprovoked seizures and a variable degree of developmental delay were also common. Conclusion: Bathing epilepsy is genetically distinct reflex epilepsy caused mainly by SYN1 mutations.Sin financiación9.910 JCR (2020) Q1, 12/208 Clinical Neurology2.587 SJR (2021) Q1, 15/378 Neurology (clinical)No data IDR 2020UE

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

Objectiv

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

To describe the clinical and genetic findings in a cohort of subjects with bathing epilepsy, a rare form of reflex epilepsy

Incidence of 'Candidatus Liberibacter europaeus' and phytoplasmas in Cacopsylla species (Hemiptera: Psyllidae) and their host/shelter plants

Psyllids, as vectors of phloem-restricted plant pathogens, are serious agricultural pests. Fruit tree phytoplasmas are transmitted by different Cacopsylla spp., while other psyllids are known vectors of liberibacters. Recently, the bacterium \u2018Candidatus Liberibacter europaeus\u2019 was found in pear trees and in Cacopsylla pyri (Linnaeus), the vector of \u2018Ca. Phytoplasma pyri\u2019. This new species does not cause symptoms in plants and is probably a symbiont rather than a pathogen. Based on these findings and the assumption that \u2018Ca. Liberibacter europaeus\u2019 is widespread, we studied its distribution in the genus Cacopsylla and in the respective host and shelter plants (where psyllids aestivate and overwinter), as well as its possible copresence with \u2018Ca. Phytoplasma\u2019 spp. We tested 14 Cacopsylla species and 11 plant species from northwestern Italy, Hungary and Israel, characterized by warm oceanic, temperate continental and warm Mediterranean climatic conditions, respectively. \u2018Ca. Liberibacter europaeus\u2019 was common within the Cacopsylla genus, being present in nine of the 14 species screened as well as in most host plants, whereas none of the shelter plants tested positive for this bacterium. Altogether, these findings indicate the presence of \u2018Ca. Liberibacter europaeus\u2019 in continental zones, whereas it does not seem to be widespread in the Mediterranean region. Furthermore, lack of specific symptoms in all infected plants confirms an endophytic relationship with this bacterium, while its abundance in insects suggests a beneficial role for the host. Co-infections with phytoplasmas, observed in insects and plants, require further study to evaluate the possible interactions between them