Juntendo University

education 📍 Tokyo, Japan
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Juntendo University
2
EM Publications
15
EM Researchers

Associated Institutions

Nerima General Hospital
related
Juntendo University Hospital
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Erythromelalgia Researchers

Ando M
2 EM publications • h-index: 14
Wada A
2 EM publications • h-index: 45
Furuya C
1 EM publication • h-index: 5
Hashimoto Y
1 EM publication • h-index: 16
Morishita S
1 EM publication • h-index: 19
Fukuda Y
1 EM publication • h-index: 9
Inano T
1 EM publication • h-index: 9
Ochiai T
1 EM publication • h-index: 11
Shirane S
1 EM publication • h-index: 12
Edahiro Y
1 EM publication • h-index: 17
Araki M
1 EM publication • h-index: 25
Komatsu N
1 EM publication • h-index: 50
Tominaga M
1 EM publication • h-index: 30
Toyama S
1 EM publication • h-index: 13
Takamori K
1 EM publication • h-index: 52

Publications

A higher V617F allele burden may be a risk factor for hemorrhagic events in younger patients with polycythemia vera.

Furuya C, Hashimoto Y, Morishita S, Fukuda Y, Inano T , et al.
Hematology (Amsterdam, Netherlands) •

Hemorrhagic events are a rare but potentially fatal complication in patients with polycythemia vera (PV). We analyzed the characteristics of hemorrhagic events in 267 patients with PV. A median follow-up of 4.8 years revealed that 23 (8.6%) hemorrhagic events occurred. Significantly more hemorrhagic events occurred in younger patients aged below 60 years (n = 72) than in older patients aged 60 years or above (n = 191) (n = 12 [16.7%] vs. n = 11 [5.8%], respectively,  = 0.012). In univariate analysis among the younger patients, white blood cell (WBC) count ≥ 15 × 10/L (hazard ratio [HR] = 7.746, 95% confidence interval [CI] 2.082-28.830,  = 0.002), palpable splenomegaly (HR = 5.629, 95% CI 1.193-26.550,  = 0.029), and V617F allele burden ≥ 80% (HR = 22.850, 95% CI 2.885-181.00,  = 0.003) were associated with an increased risk of hemorrhagic events. In multivariate analysis, V617F allele burden ≥ 80% (HR = 9.394, 95% CI 1.046-84.380,  = 0.046) was a significant risk factor. There is an increased risk of hemorrhagic events after diagnosis in younger PV patients with a high V617F allele burden, high WBC count or palpable splenomegaly. It is important to consider treatment options that aim to avoid hemorrhagic events by reducing the V617F allele burden in younger PV patients.

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A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.

Watabe D, Tominaga M, Toyama S, Takamori K, Nakano H , et al.
The Journal of dermatology •

Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by the SCN9A are responsible for PEM. The pathophysiology of PEM is unclear, but the involvement of neurogenic and vasogenic mechanisms has been suggested. Here we report a case of severe PEM in a 9-year-old child with a novel SCN9A mutation and examine the distribution of nerve fibers and expression of neuropeptides in the affected skin. Gene mutation analysis revealed a novel mutation p.L951I (c.2851C>A) in the heterozygous form of the SCN9A. An immunofluorescence study showed that intraepidermal nerve fibers were decreased in the affected leg, suggesting small fiber neuropathy. There was no increase in the expression of substance P (SP) or calcitonin gene-related peptide (CGRP) in the lesional skin tissue. These findings suggest SP and CGRP do not play a major role in the pathophysiology of primary erythromelalgia.

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