Internal Medicine最新文献

Some copy number variations (CNVs) in DNA are associated with the development of pathological phenotypes. Regarding the diagnosis of recurrent radial nerve palsies, a 73-year-old female patient with intractable epilepsy and intellectual disability was diagnosed with duplicated 15q11.1-11.2, in addition to a deletion of 17p12, causing hereditary neuropathy with liability to pressure palsies. CNVs in 15q11.1-11.2 have been reported in patients with schizophrenia and autism. Although CNVs are also sometimes seen in healthy individuals, duplicated 15q11.1-11.2 could be associated with CNS symptoms in this patient.

The perivascular fat attenuation index (FAI) has been recognized as a cardiac computed tomography-based (CCT)-based biomarker of coronary inflammation. We report the case of a 47-year-old woman with acute spontaneous coronary artery dissection (SCAD) involving the proximal left coronary artery (LCA), who underwent FAI three times. The initial CCT scan revealed higher perivascular FAI values in the dissected LCA. The second CCT scan, performed 8 days later, showed persistence of a higher perivascular FAI value only in the left circumflex coronary artery, in which progression of stenotic severity and myocardial infarction formation were found. The persistence of a higher perivascular FAI may indicate disease deterioration in patients with SCAD.

Acquired coagulopathy, particularly bleeding due to factor X deficiency, is a rare but not unusual phenomenon in patients with plasma cell dyscrasias such as amyloidosis. We herein report a rare case of a Han Chinese man with recurrent scattered skin ecchymosis on the forearms due to factor XI (FXI) deficiency and lupus anticoagulant who was diagnosed with monoclonal gammopathy of undetermined significance (MGUS) and confirmed to have a heterozygous mutation p.L190P (c.T569C) in the FXI gene. To our knowledge, this is the first case report of MGUS concurrent with a FXI missense mutation and lupus anticoagulant.

Coronary artery spasm (CAS) is an underrecognized cause of heart failure, even in the absence of obstructive coronary artery disease. We report three cases of heart failure in which CAS was identified as the critical etiology. All patients exhibited symptoms of heart failure with nonobstructive coronary arteries, and CAS provocation testing confirmed epicardial spasm. In two cases, cardiac magnetic resonance imaging revealed ischemic patterns consistent with CAS-related injuries. Calcium channel blockers effectively stabilize the signs and symptoms related to heart failure. This series highlights CAS as a contributor to heart failure progression and emphasizes the importance of provocation testing and early tailored therapy for improving outcomes.

A 69-year-old woman presented with heart failure and progressive muscle weakness and was diagnosed as anti-mitochondrial antibody (AMA) myositis with cardiac involvement. Immunosuppressive therapy with prednisolone and intravenous cyclophosphamide significantly improved the symptoms, hemodynamics, and cardiac function. Cardiac magnetic resonance (CMR) T1 and T2 mapping showed elevated native T1, T2, and extracellular volume fractions during heart failure exacerbation (day 37) compared to pre-hospitalization values (10 months before admission) and follow-up conducted 6 and 12 months after admission. This case underscores the importance of comprehensive evaluation, such as serial CMR imaging and immunosuppressive therapy, in managing myocardial involvement in AMA-positive myositis.

We report the case of a 61-year-old man with chronic myelomonocytic leukemia, who underwent unrelated peripheral blood stem cell transplantation. Fusariosis was suspected prior to identification of the fungal species, and voriconazole and liposomal amphotericin B combination therapy were administered. The patient developed fusarium-related endophthalmitis, accompanied by eye pain. Despite vitrectomy, the endophthalmitis was poorly controlled, and the left eye was enucleated. No recurrence of fusariosis was observed until death following multiple-organ failure due to steroid-resistant graft-versus-host disease.

A 77-year-old man presented for computed tomography (CT) with iodinated contrast for follow-up of gastric cancer. After contrast injection, the patient experienced cardiac arrest. A post-return spontaneous circulation electrocardiogram showed ST segment elevation in the inferior leads and V1-3. Since type I Kounis syndrome (KS) was suspected, corticosteroids and antihistamines were administered intravenously. Subsequently, coronary angiography (CAG) revealed coronary spasms, and selective intracoronary injection of nitrates successfully resolved each spasm. Strategic substitution of contrast media did not induce any additional allergic reactions. The optimal timing and preferred strategies for performing CAG in patients with KS were also discussed.

Biologics against interleukin-5 were administered to five patients with eosinophilic gastroenteritis (EGE) and bronchial asthma (BA). BA and abdominal symptoms as well as changes in steroid dose and the blood eosinophil count were examined. The man-to-woman ratio was 1:4. The average age of onset was 63 years old. The duration of the disease was three to nine years. Four patients showed improved BA symptoms with mepolizumab or benralizumab, and three successfully discontinued steroids. Regarding abdominal symptoms, mepolizumab was effective in one of three cases, while benralizumab improved symptoms in three of four cases. Biologics targeting interleukin-5 are effective in some patients with EGE accompanied by BA.