Ma L

First Affiliated Hospital of Zhengzhou University

OpenAlex Profile
2
EM Publications
6
h-index
(151 citations, 9 total works)

Research Topics

Pain Mechanisms and Treatments (4) Paleontology and Evolutionary Biology (3) Ichthyology and Marine Biology (3) Trigeminal Neuralgia and Treatments (2) Facial Nerve Paralysis Treatment and Research (2)

Erythromelalgia Publications

Spinal Cord Stimulation in the Treatment of Pediatric Erythromelalgia.

Fan X, Bu H, Wen Y, Ma L, Huang C , et al.
World neurosurgery •

In children, erythromelalgia is a rare but difficult to manage condition that results in bilateral episodic pain and redness in distal extremities. It is heat intolerant and relieved by cooling. Management of erythromelalgia is difficult and requires a complex multidisciplinary approach. We present a case of successful treatment of erythromelalgia with short-term spinal cord stimulation in a 12-year-old girl. The patient had severe burning pain, having undergone trials of multiple medical therapies before presenting to our department. Dual-lead spinal cord stimulator electrodes were successfully implanted without complication, leading to excellent pain control, now 8 months postimplant. This case spurs interest for future research in neuromodulation as part of the multimodal regimen to treat pediatric erythromelalgia.

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

Yang Y, Wang Y, Li S, Xu Z, Li H , et al.
Journal of medical genetics •

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations in the two candidate genes, SCN9A and GCA, in the family and a sporadic patient. Linkage analysis yielded a maximum lod score of 2.11 for both markers D2S2370 and D2S2330. Based on critical recombination events in two patients in the family, we further limited the genetic region to 5.98 cM between D2S2370 and D2S2345. We then identified two missense mutations in SCN9A in the family (T2573A) and the sporadic patient (T2543C). Our data suggest that mutations in SCN9A cause primary erythermalgia. SCN9A, encoding a voltage-gated sodium channel alpha subunit predominantly expressed in sensory and sympathetic neurones, may play an important role in nociception and vasomotor regulation.

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