Internal medicine
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We herein report a 20-year-old woman who developed eosinophilic granulomatosis with polyangiitis (EGPA) and portal vein thrombosis (PVT). EGPA was diagnosed based on the patient's history of asthma, hypereosinophilia, and mononeuritis complex. ⋯ As patients with EGPA often suffer from asthma, they can be hesitant to undergo CECT. However, if patients with EGPA show uncertain thrombocytopenia with liver dysfunction, a further evaluation using CECT is warranted to detect PVT.
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Case Reports
Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia.
Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p. G528E) and c.1873T>G (p. ⋯ CS is usually diagnosed in childhood with well-defined facial characteristics and photosensitivity. This case report describes rare cases of adulthood CS with a primary presentation of slowly progressing deafness and cerebellar ataxia. CS should be considered in adults with characteristic facial and skin findings, deafness, and cerebellar ataxia.
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Eosinophils are important effector cells in airway inflammation, as pleiotropy and heterogeneity can be linked to various pathophysiologies in asthma and chronic obstructive pulmonary disease (COPD). Sputum eosinophils can reflect the heterogeneity of airway inflammation, and owing to their traits, blood eosinophils can be a surrogate and potential biomarker for managing both conditions. ⋯ Thus, there is growing interest in the use of blood eosinophils for the management of these diseases. Compiling recent evidence, we herein review the significance of measuring blood eosinophils in asthma and COPD.
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An 84-year-old Japanese man was diagnosed with blastic plasmacytoid dendritic cell neoplasm (BPDCN). We administered combination therapy using venetoclax and azacytidine. ⋯ After six cycles of treatment, the BPDCN abnormal cells in the bone marrow specimen almost disappeared, and atypical cells were not detected in a skin biopsy. We propose venetoclax combined with azacytidine as a useful treatment approach in elderly patients, although clinicians should be mindful that therapeutic modifications may be essential to minimize and/or avoid adverse events.
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Objective Sarcopenia is characterized by a loss of muscle mass and strength, which leads to frailty and mortality. Rheumatoid arthritis (RA) is considered to be a cause of sarcopenia. The present study assessed the effectiveness of biological disease-modifying antirheumatic drugs (bDMARDs) on sarcopenia. ⋯ The proportion of patients diagnosed with sarcopenia decreased significantly after 12 months of bDMARDs (43.8% vs. 27.1%, p=0.039). Among the 21 patients who were diagnosed with sarcopenia when starting bDMARDs, the skeletal muscle index was significantly increased after 12 months of bDMARDs. [5.22 (4.76-5.43) kg/m2 vs. 5.44 (4.84-5.77), p=0.039]. Conclusion Biologics may be useful in the treatment of sarcopenia through mechanisms such as improving the disease activity, physical activity and nutritional status.