(1997). β-Thalassemia Mutations in Japanese and Koreans. Hemoglobin: Vol. 21, No. 2, pp. 191-200.
Kurume Institute of Technology
Publishes on Hemoglobinopathies and Related Disorders, Iron Metabolism and Disorders, Eosinophilic Disorders and Syndromes. 33 papers and 195 citations.
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(1997). β-Thalassemia Mutations in Japanese and Koreans. Hemoglobin: Vol. 21, No. 2, pp. 191-200.
(1992). Two β-Thalassemia Mutations in Japan: Codon 121 (Gaa→Taa) and IVS-I-130 (G→C) Hemoglobin: Vol. 16, No. 4, pp. 295-302.
Ten unstable hemoglobins have been identified in 14 Japanese families (Table I). Five of them which have never been found in other countries are Hb Hirosaki, Hb Iwata, Hb Tochigi, Hb Mizuho, and Hb Toyoake. Hb Köln has been found in four independent families. Eight cases (57% of the total number of families) appear to have occurred by de novo mutation. We will briefly describe two new unstable hemoglobins, Hb Toyoake and Hb Iwata.
Panniculitis is an uncommon skin eruption observed in patients with dermatomyositis (DM)/clinically amyopathic dermatomyositis (CADM), especially in anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive DM. We present here a 51-year-old Japanese woman with an anti-MDA5 antibody-positive DM who initially had cellulitis-like erythema on her right mandible. Histopathological findings showed a subcutaneous lobular infiltration of lymphocytes. The patient developed typical skin eruptions of DM/CADM, rapidly progressive interstitial lung disease, and severe muscle weakness 2 weeks after the first visit. After the diagnosis of anti-MDA5 antibody-positive DM, she was treated with intravenous steroid pulse therapy (methylprednisolone, 1,000 mg/day for 3 days), oral prednisolone at 1.0 mg/kg/day, and tacrolimus at 4.0 mg/day. The lesions of panniculitis associated with DM/CADM typically present on the buttocks, thighs, arms, and abdomen. This is the first DM/CADM case with localized panniculitis on the face. Panniculitis and myositis usually show simultaneous improvement during treatment. Although panniculitis disappeared with steroid and tacrolimus treatment and did not recur, muscle weakness was intractable and recurred in this case. This indicates that the clinical courses of panniculitis and myositis of DM/CADM do not always change in parallel.