Internal medicine
-
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.
-
Most cases of liver dysfunction in pregnancy are pregnancy-related, but the onset of systemic autoimmune diseases is also differentiated. A 24-year-old woman presented with liver dysfunction at 28 weeks' gestation with suspected autoimmune hepatitis and started taking ursodeoxycholic acid. ⋯ Since the patient had major symptoms during the puerperium, she was diagnosed with adult-onset Still's disease. When encountering a patient with liver dysfunction during pregnancy, we should also consider the onset of autoimmune diseases.
-
Generalized subcutaneous edema is rare in dermatomyositis. We herein report an 82-year-old woman with dermatomyositis who presented with generalized subcutaneous edema. Three weeks before admission, she first noticed facial edema, and the symptoms exacerbated, with limb edema occurring. ⋯ Her muscle enzyme levels were elevated, and serum anti-transcriptional intermediary factor 1-γ antibody was detected. She was diagnosed with dermatomyositis and treated with corticosteroids and tacrolimus, which improved her muscle weakness, muscle enzymes, and edema. Thus, generalized subcutaneous edema can occur during dermatomyositis, with facial edema as the initial symptom.
-
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.
-
Objective The extracellular volume (ECV) calculated based on contrast-enhanced computed tomography (CT) has been reported as a novel imaging parameter reflecting the morphological change of fibrosis in several parenchymal organs. Our retrospective study assessed the validity of the ECV fraction for diagnosing pancreatic fibrosis and the appropriate imaging condition as the "equilibrium phase". Methods In 27 patients undergoing multiphasic CT and subsequent pancreaticoduodenectomy, we investigated pathological fibrotic changes related to the ECV fraction and conducted analyses using the value obtained by subtracting the equilibrium CT value of the portal vein from that of the abdominal aorta (Ao-PVequilibrium) to estimate eligibility of the equilibrium phase. ⋯ Conclusion The ECV fraction is a possible predictive factor for histopathological pancreatic fibrosis. In its clinical application, the eligibility of the "equilibrium phase" may affect the diagnostic capability. It will be necessary to verify the imaging conditions in order to improve the accuracy of the diagnosis.