Internal medicine
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Review
Podocyte-specific Transcription Factors: Could MafB become a Therapeutic Target for Kidney Disease?
The increasing number of patients with chronic kidney disease (CKD) is being recognized as an emerging global health problem. Recently, it has become clear that injury and loss of glomerular visceral epithelial cells, known as podocytes, is a common early event in many forms of CKD. Podocytes are highly specialized epithelial cells that cover the outer layer of the glomerular basement membrane. ⋯ We previously reported that the transcription factor MafB regulates the podocyte slit diaphragm protein production and transcription factor Tcf21. We showed that the forced expression of MafB was able to prevent CKD. In this review, we discuss recent advances and offer an updated overview of the functions of podocyte-specific transcription factors in kidney biology, aiming to present new perspectives on the progression of CKD and respective therapeutic strategies.
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Case Reports
A Case of Muscle Biopsy-proven Drug-induced Microscopic Polyangiitis in a Patient with Tuberculosis.
We herein report a case of muscle biopsy-proven microscopic polyangiitis (MPA) in a patient with tuberculosis. The patient had developed a persistent fever after the initiation of treatment for tuberculosis and was positive for myeloperoxidase-antineutrophil cytoplasmic antibody (ANCA). However, because conventional symptoms were lacking, determination of the biopsy site was difficult. ⋯ The fever was alleviated by glucocorticoids. Tuberculosis and antituberculosis drugs can cause ANCA-associated vasculitis (AAV). A muscle biopsy is useful for the diagnosis of AAV.
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Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein report a case of HS with no family history harboring a novel heterozygous mutation of SPTA1, c.2161G>A (p. E721K), and a homozygous polymorphism of UGT1A1*6. ⋯ The coexistence of HS and Gilbert's syndrome increases the risk of gallstones. Therefore, splenectomy, alone or in combination with cholecystectomy, is recommended. The determination of genetic diathesis provides useful information for the management of hemolytic anemia.
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Case Reports
A Bone Histomorphometric Analysis of Hypophosphatasia-related Osteoporosis after Teriparatide Treatment.
A 79-year-old man was admitted with a compression fracture of the first lumbar vertebra. His alkaline phosphatase (ALP) level was 35 IU/L, and his dual energy X-ray absorptiometry T score was -3.7 standard deviations, indicating osteoporosis. A genetic analysis showed a mutation of the alkaline phosphatase biomineralization-associated gene encoding tissue-nonspecific alkaline phosphatase. ⋯ A bone biopsy performed after three years of teriparatide treatment showed that cancellous bone was adynamic. In cortical bone, tetracycline double-labeling indicates enhanced bone formation. Teriparatide may thus be a viable treatment option even in patients with hypophosphatasia.
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Observational Study
Rapid Evaluation of Large Vessel Occlusion for Mechanical Thrombectomy Using Carotid Duplex Ultrasound.
Objectives This study clarified the usefulness of carotid duplex ultrasound (CDU) in evaluating large vessel occlusion (LVO) in patients with acute stroke planned to be treated with mechanical thrombectomy (MT). Methods This study was single-center, prospective, observational trial. If the ratio of end-diastolic velocity in the common carotid arteries was ≥1.4, or diastolic flow in the affected internal carotid artery (ICA) was absent on CDU, patients were immediately transferred to the angio-suite without additional cerebrovascular imaging. ⋯ Among the 29 total patients treated with MT, 20 (67%) showed a modified Rankin Scale score ≤2 at 90 days. The door-to-puncture time was significantly shorter in patients evaluated by CDU alone (34 minutes) than in those evaluated by magnetic resonance angiography after CDU (47.5 minutes, p<0.001). Conclusion CDU might reduce the time metrics for early initiation of MT with good sensitivity and specificity in identifying LVO.