Internal medicine
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The different prevalences of iron overload syndromes between Caucasians and Asians may be accounted for by the differences in genetic background. The major mutation of hemochromatosis in Celtic ancestry, C282Y of HFE, was reported in a Japanese patient. Five patients of 3 families with the hepatic transferrin receptor gene (TFR2)-linked hemochromatosis were found in different areas of Japan, suggesting that TFR2 is a major gene in Japanese people. ⋯ Another autosomal dominant SLC40A1-linked hyperferritinemia (ferroportin disease) was found in 3 patients of 2 families. Two patients with hemochromatosis were free from any mutations in the genes investigated. In conclusion, the genetic backgrounds of Japanese patients with primary iron overload syndromes were partially clarified, showing some phenotype-genotype correlations.
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Case Reports
Phosphaturic mesenchymal tumor with symptoms related to osteomalacia that appeared one year after tumorectomy.
A 45-year-old man was admitted to our hospital because of bone pain and hypophosphatemia. He had undergone surgery 2 years previously for a "benign unclassified mesenchymal tumor" in the skull, but there were no clinical symptoms related to osteomalacia. His laboratory examination revealed low serum phosphate, high alkaline phosphatase, and normal calcium levels. ⋯ Oral supplementation with phosphate and 1-25-dihydroxyvitamin D relieved his clinical symptoms and laboratory values returned to normal. However, subcutaneous administration of octreotide had no clinical effect. Clinicians and pathologists should be aware of the existence of PMTMCT especially nonphosphaturic or asymptomatic variants of this disorder.
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We report a case of spontaneous coronary artery dissection (SCAD) causing acute myocardial infarction, which was complicated by vasospastic angina (VA). The patient received intravenous administration of t-PA. Emergency coronary angiography demonstrated narrowing of the left anterior descending artery (LAD) due to SCAD. ⋯ Sublingual administration of nitroglycerin provided temporary remission. Coronary stent implantation was performed electively using intravascular ultrasound imaging. This is the first reported case of SCAD associated with vasospasm in a non-culprit coronary artery during the hospitalization.
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Case Reports
Aortic dissection associated with acute myocardial infarction and stroke found at autopsy.
It is sometimes very difficult to diagnose dissecting aortic aneurysms in the early stage. We report an autopsy case in which an acute myocardial infarction and cerebral infarction simultaneously occurred and the symptoms were transiently ameliorated in a patient with an acute aortic dissection.
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Review Case Reports
Acute-onset sarcoidosis with erythema nodosum and polyarthralgia (Löfgren's syndrome) in Japan: a case report and a review of the literature.
Löfgren's syndrome is an acute form of sarcoidosis that is characterized by erythema nodosum (EN), bilateral hilar lymphadenopathy (BHL), and polyarthralgia or polyarthritis. This syndrome is common among white people, but is considered rare among Japanese people. We present the case of a 26-year-old Japanese woman with Löfgren's syndrome. ⋯ Six Japanese cases of Löfgren's syndrome have been reported previously. Five of the seven Japanese patients with Löfgren's syndrome had normal ACE levels; all of them exhibited BHL. Löfgren's syndrome should be considered as a possibility when examining a patient with EN and articular symptoms, even if the patient is Japanese.