Internal Medicine最新文献

MYC amplification and overexpression are uncommon in acute myeloid leukemia (AML). An 82-year-old man developed leukocytosis during monoclonal gammopathy of renal significance. A chromosomal analysis revealed 46,XY,+r(8)[20]. Amplified MYC signals were detected on chromosome 8. The patient was diagnosed with AML and administered venetoclax and azacitidine. After the third course, clones with ring chromosome 8 had decreased in number, but clones unrelated to t(8;21)(q22;q22) had subsequently emerged. After the sixth course, the white blood cell count had markedly increased, and a chromosome analysis showed replacement of ring chromosome 8 with 46,XY,t(8;21)[20]. This case highlights the role of MYC amplification and overexpression in AML and suggests that BCL2 inhibition is a potential treatment.

A 46-year-old woman presented with acute disturbance of consciousness, ataxia, and urinary retention. Although Hashimoto's encephalopathy was initially suspected due to the detection of serum anti-NH₂-terminal α-enolase (NAE) antibodies, glial fibrillary acidic protein (GFAP)-astrocytopathy was also considered probable due to urinary retention. An additional examination revealed positive results for both anti-GFAP and anti-NAE antibodies. This case highlights the importance of considering antibodies to be examined based on clinical features, even in the presence of antibodies.

We herein report a 41-year-old woman with BRAFV600E-mutated intrahepatic cholangiocarcinoma and a concurrent loss of function in NF2. The patient had a large liver tumor, multiple lymph nodes, and metastases to the lungs and pleura. She underwent six cycles of gemcitabine, cisplatin, and durvalumab but was refractory to this treatment. Comprehensive genomic profiling revealed a BRAFV600E mutation along with a loss of function in NF2. The patient was treated with a combination of oral dabrafenib and trametinib therapy. After two months, imaging showed reduced pleural effusion, tumor shrinkage, symptom resolution, and improved performance status, without significant side effects.

Objective Optimal medical therapy (OMT) is recommended for the secondary prevention of acute myocardial infarction (AMI) after percutaneous coronary intervention (PCI). We investigated the relationship between the OMT prescription rate at hospital discharge and clinical outcomes in patients with AMI who underwent successful PCI. Methods We enrolled 294 consecutive AMI patients who underwent successful emergency PCI between January 2017 and December 2020. The patients were divided into two groups based on their medications at discharge: OMT, defined as a combination of statins, beta-blockers, angiotensin-converting enzyme inhibitors, or angiotensin receptor blockers; and non-OMT, defined as the absence of at least one of the aforementioned agents. The primary outcome measure was major adverse cardiovascular events (MACEs), defined as the composite of all-cause death, nonfatal myocardial infarction, nonfatal stroke, and heart failure requiring hospitalization. Results According to prescription data, 186 patients (63.3%) were prescribed OMT at discharge. During a median follow-up period of 957 (591-1,308) days, 45 patients developed MACEs. Kaplan-Meier curves showed a significantly lower incidence of MACE in the OMT group than in the non-OMT group (log-rank p<0.001). In the multivariate analysis, OMT remained independently associated with a reduced risk of MACE (hazard ratio, 0.47; 95% confidence interval: 0.25-0.88; p=0.017). Conclusion Fundamental OMT at discharge was associated with a reduced risk of MACE in AMI patients after successful PCI. Therefore, OMT may be necessary to improve the clinical outcomes of patients with AMI after discharge.

TAFRO syndrome is a rare, severe, and sometimes refractory condition characterized by thrombocytopenia, anasarca, a fever, reticulin myelofibrosis, and organomegaly. Although several treatment options have been proposed for this condition, there are few reported cases in the literature on successful treatment using cyclophosphamide in patients with TAFRO syndrome. We herein report two cases of refractory TAFRO syndrome successfully treated with intravenous cyclophosphamide. In both cases, after the initial treatment with high-dose glucocorticoids and tocilizumab failed, the administration of intravenous cyclophosphamide led to significant improvement. These cases suggest that intravenous cyclophosphamide may be a viable therapeutic option for refractory TAFRO syndromes.

A 69-year-old man underwent upper and lower gastrointestinal endoscopic examinations for a detailed evaluation of diarrhea that had persisted for several months, which revealed multiple polyposis in the stomach, duodenum, colon, and terminal ileum. The histopathological findings also led to a diagnosis of Cronkhite-Canada syndrome (CCS). On admission, the patient had hypoalbuminemia and electrolyte abnormalities, including hypokalemia, and developed paroxysmal atrial fibrillation (Paf), although there were no apparent organic lesions in the heart. The patient's sinus rhythm was restored by electrical cardioversion, steroid therapy for CCS improved diarrhea symptoms and endoscopic findings, and the electrocardiogram findings were normal.

A 31-year-old female presented at our hospital with fatigue and subcutaneous bleeding. Blood tests revealed hemolytic anemia. The patient had Coombs-negative normocytic anemia and thrombocytopenia; therefore, thrombotic thrombocytopenic purpura was ruled out. On day two, we noticed that the eating habits of the patient, hypersegmented neutrophils, and megaloblastic changes suggested malnutrition; therefore, we initiated vitamin supplementation. On day six, the vitamin C levels were <0.2 μg/mL, and the patient was therefore diagnosed with scurvy. Scurvy can mimic hemolytic anemia by causing normocytic megaloblastic anemia with a high reticulocyte count. Hypersegmented neutrophils and a detailed medical history are important for making a differential diagnosis.