Internal medicine
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Case Reports
Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.
Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both families had repeated episodes of stroke, depression, dementia as well as T2 high-intensity lesions in the basal ganglia and periventricular white matter, but fewer white matter lesions in the temporal pole on MRI. These families provide new insights into the diagnosis and pathomechanisms of CADASIL.
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Comparative Study
Long-term intensive insulin therapy for Japanese patients with type 2 diabetes mellitus.
To determine the clinical usefulness of long-term intensive insulin therapy in Japanese patients with type 2 diabetes. ⋯ Our results indicated the clinical usefulness of intensive insulin therapy over the long term in Japanese patients with type 2 diabetes and that such therapy could be especially useful for previously untreated patients.
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Case Reports
Successful treatment of intravascular large B-cell lymphoma diagnosed by bone marrow biopsy and FDG-PET scan.
Early diagnosis of intravascular large B-cell lymphoma (IVLBCL) is difficult, but is critical for longer survival for the patients. We report a case of IVLBCL that was diagnosed with the help of FDG-PET. A 76-year-old woman was referred to us for the evaluation of her elevated serum LDH. ⋯ FDG-PET imaging showed increased uptake of FDG in the vertebra, bilateral femurs, sternum, and iliac bones. A diagnosis of IVLBCL was made by bone marrow biopsy. She was successfully treated with rituximab and modified CHOP therapy.
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We investigated whether or not "low dose" metformin could prevent weight gain induced by pioglitazone. ⋯ This study indicates potential benefits of the addition of pioglitazone to "low dose" metformin in terms of improvement of glucose and lipid metabolism without weight gain.
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A 51-year-old woman suffered from xerophthalmia and xerostomia for 3 years without being medically examined. In July 2006, she was referred to our hospital for the evaluation of chest roentgenogram showing slight pleural effusion in the right lung. A chest CT scan revealed multiple nodules, enlarged mediastinal and hilar lymph nodes, and bilateral slight pleural effusions. ⋯ Histological examination of the specimen from the nodular lesion by video-assisted thoracoscopic biopsy revealed noncaseating epithelioid cell granuloma containing giant cells, which confirmed the diagnosis of sarcoidosis. Although the coexistence of Sjögren's syndrome and sarcoidosis has been reported occasionally, cases with histological evidence of sarcoidosis have been rare. Pulmonary sarcoidosis should be considered in the differential diagnosis of pulmonary multiple nodules in patients with Sjögren's syndrome.