The American journal of the medical sciences
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Review Case Reports
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Hemophagocytic lymphohistiocytosis(HLH) is a rare highly-fatal disease presenting with fever, hepatosplenomegaly, and pancytopenia and has a poor prognosis. Homozygous or semi-zygous or complex heterozygous variants can cause familial HLH and heterozygous carriers are frequently seen in secondary HLH. A 42-year-old male patient was admitted to the hospital for persistent fever, fatigue, and splenomegaly. ⋯ After a brief remission with dexamethasone and etoposide-based therapy, the disease relapsed quickly, and an allogeneic hematopoietic stem cell transplant was performed to achieve complete remission. To date, the patient's condition was in complete remission. Our study detected a rare missense mutation in the PRF1 gene in a patient with HLH disease and the c.674G>A mutation may be rated as a possible pathogenic variant.
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The aim of this study was to investigate the serum level of uric acid (UA) in male patients with androgenetic alopecia (AGA) and to compare the level with that of men without AGA. In addition, the comparison of the serum level of uric acid (UA) before and after treatment with finasteride was performed. ⋯ We found that AGA has a relationship with hyperuricemia, and the level of serum UA can decrease with the treatment of finasteride.
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Apolipoprotein B (apoB) is a crucial component that directly reflects the number of atherogenic lipoprotein particles and is closely related to atherosclerosis. However, there was an inconsistency among previous studies in its relationship with mortality. Using nationally representative data, we aimed to investigate the association of apoB with cardiovascular and all-cause mortality. ⋯ ApoB was linearly associated with increased risk of cardiovascular mortality and non-linearly associated with all-cause mortality in a U-shaped manner, independently of other cardiovascular risk factors.