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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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.
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Brugada syndrome is characterized by ST-segment elevation in the right precordial leads (V1-V3) and an episode of ventricular fibrillation (VF) in the absence of structural heart disease. A number of reports from the world have unveiled the clinical, electrocardiographic, electrophysiologic and prognostic features of Brugada syndrome, and two recent consensus reports have suggested the diagnostic criteria of Brugada syndrome and the risk stratification for the identification of high risk Brugada patients for sudden cardiac death. ⋯ On the other hand, advances in the understanding of the cellular mechanism for Brugada phenotype derived from experimental studies have suggested possibilities for the development of strategies for managing and treating patients with Brugada syndrome. In this review, the recent understanding and knowledge of Brugada syndrome will be updated.
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Review Case Reports
An autopsy case of acute pulmonary toxicity associated with gemcitabine.
Acute respiratory distress syndrome (ARDS) developed following intravenous gemcitabine monotherapy in a 75-year-old man with non-small cell lung cancer. The total dose of gemcitabine was 1,500 mg, and the latent period from starting gemcitabine to pulmonary toxicity was three days. ⋯ Postmortem examination of the lung revealed mixed exudative and fibrotic stages of diffuse alveolar damage. Pulmonary toxicity from gemcitabine can be acute and fatal.
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Review Case Reports
Segmental mediolytic arteriopathy involving celiac to splenic and left renal arteries.
A 46-year-old man presented with a huge splenic artery dissecting aneurysm that had been incidentally found and was successfully resected before rupture. The histopathologic findings were compatible with segmental mediolytic arteriopathy (SMA). ⋯ The patient was also found to have an adrenocortical adenoma, gastrointestinal stromal tumor, hepatocellular carcinoma and schizophrenia. The relationship between SMA and other accompanying diseases was discussed.