Internal medicine
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Danon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. ⋯ A pathological analysis revealed that only a minority of the samples exhibited autophagic vacuoles with unique sarcolemmal features (AVSFs), which are typical of DD. Importantly, LAMP-2 expression was absent and the myocardial tissue contained a substantial amount of p62-positive aggregates.
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We herein report a case of neurosyphilis that presented with isolated bilateral abducens nerve palsy. A 39-year-old man was referred to our department with diplopia. ⋯ Positive syphilis tests in the serum and cerebrospinal fluid and a contrasting effect on the abducens nerve on magnetic resonance imaging (MRI) confirmed the diagnosis of active neurosyphilis. When a patient manifests isolated abducens nerve palsy, neurosyphilis can be a differential diagnosis, although rare, and contrast-enhanced MRI may help diagnose the disease.
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The prognosis of congenital heart disease (CHD) has improved, and most patients now reach adulthood. Owing to residual disease and comorbidities, it is recommended that adult CHD (ACHD) patients transition to adult care for lifelong monitoring and treatment. ⋯ The present review describes the epidemiology of ACHD and notable points in patient care as the background of transition. The concepts and an overview of transition systems, educational systems, and potential lapses in the care of their relevant causes are then provided with supporting evidence.
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The diagnosis of pneumonia is based on respiratory and systemic symptoms, blood test findings, chest radiographic findings, and the condition of the patient. Physicians in aging or aged societies such as Japan carefully evaluate the comprehensive situation of each pneumonia patient with adequate evaluation and treatment according to "the Japanese Respiratory Society guidelines for the management of pneumonia in adults in 2024". ⋯ This review concisely describes the historical evolution of the diagnosis and treatment of pneumonia in elderly societies, including aspiration pneumonia, from multiple perspectives. In addition, it explores the differential diagnoses when antimicrobial treatment for pneumonia is ineffective, highlighting key aspects through chest radiography and computed tomography.
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We herein report a case of Takotsubo syndrome in an 80-year-old woman with end-stage renal disease who hesitated to initiate hemodialysis for pulmonary edema. On hospital day 2, the patient experienced cardiac arrest. Coronary angiography after spontaneous return of circulation showed no substantial stenosis. ⋯ On hospital day 3, she developed ventricular fibrillation but was spontaneously resuscitated. Patients with chronic kidney disease and those who postpone dialysis initiation may be at an increased risk of developing Takotsubo syndrome. Early and careful monitoring and adequate shared decision-making are essential for seamless initiation of dialysis.