Internal Medicine最新文献

A 71-year-old woman was diagnosed with anaplastic lymphoma kinase-positive metastatic lung adenocarcinoma staged as cT1cN3M1c (8th edition). Treatment with lorlatinib (100 mg) was initiated on a daily basis. Three weeks after the first dose, the patient was hospitalized because of lorlatinib-induced noncardiogenic pulmonary edema. The patient's condition improved with diuretic therapy, and lorlatinib was rechallenged at a reduced dose. Follow-up computed tomography revealed a partial response. This is a rare case of non-cardiogenic pulmonary edema as an adverse effect of lorlatinib.

There is a lack of established methods to explore the etiology of sudden cardiac arrest. We herein report sudden cardiac arrest as pulseless electrical activity in a young woman triggered by coronary artery spasm. There were no health issues except for situs inversus totalis, but the patient experienced sudden cardiac arrest after suffering chest pain. ST-segment depression was observed in leads V₃-V₆ on electrocardiography. However, urgent angiography did not reveal any coronary stenosis. Cardiac magnetic resonance imaging (MRI) revealed myocardial edema localized to the inferior and posterior segments without evidence of late gadolinium enhancement. Additionally, a provocation test with acetylcholine confirmed a coronary artery spasm. Inexplicable sudden cardiac arrest may result in missing the chance to detect hidden cardiac disease. Cardiac MRI may help to elucidate the etiology of sudden cardiac arrest.

Relapsing polychondritis (RP) is a rare autoimmune disease that may involve the central nervous system. We herein present the first reported case of hypertrophic pachymeningitis (HP) in an RP patient with a concurrent Klebsiella pneumoniae infection. A 48-year-old man developed transient left-sided weakness and numbness, and brain MRI showed diffuse pachymeningitis. Cultures from a dural biopsy identified K. pneumoniae, and RP was diagnosed using an auricular cartilage biopsy. Treatment with corticosteroids and infliximab resulted in symptom resolution. This case highlights the importance of considering bacterial infections in HP associated with RP, while also providing insight into its pathophysiology.

Electroconvulsive therapy (ECT), an established treatment for psychiatric disorders, shows promise in alleviating both motor and non-motor symptoms in patients with Parkinson's disease (PD). We herein report a case of PRKN-associated PD presenting with characteristic psychosis and dystonic voice, which was effectively managed with maintenance ECT. A genetic analysis initially identified a single heterozygous PRKN deletion using multiple ligation-probe amplification. Subsequent Oxford Nanopore technology long-read sequencing revealed a second pathogenic variant, confirming a compound heterozygous PRKN mutation. This case highlights the utility of long-read sequencing in resolving genetic diagnoses and the potential of maintenance ECT for managing complex PD phenotypes.

Objective To compare the effect of the FIB4 index on skeletal muscle mass (SMM) loss (i.e., pre-sarcopenia) with that of three other liver fibrosis markers [FIB3 index, aminotransferase to platelet ratio index (APRI), and platelet count] or sarcopenia-related factors such as age and body mass index (BMI) in patients with metabolic dysfunction associated with steatotic liver disease (MASLD, 2,093 men and 1,280 women; median age, 55 years). Methods An SMM decrease was defined as a fat-free index, as tested by a bioelectrical impedance analysis, <18 kg/m² in men and <15 kg/m² in women. We compared the diagnostic ability of the above-mentioned six markers to induce an SMM decrease. Results The median BMI was 25.0 kg/m². The median FIB4 index, FIB3 index, APRI, and platelet count were 0.99, -0.40, 2.93 and 25.2 × 10⁴/μL. The prevalence of SMM decrease in men and women was 21.7% (455/2,093) and 16.7% (214/1,280), respectively. For all cases, the percentage of a decreased SMM was 15.0% (372/2,479) in cases with FIB4 index <1.3, 32.1% (268/834) in cases with 1.3< FIB4 index <2.67 and 48.3% (29/60) in cases with FIB4 index >2.67 (overall p<0.0001). In almost all subgroup analyses, the cases were well-stratified according to the FIB4 index. In all cases, the area under the receiver operating characteristic curve (AUC) for SMM decrease was highest for BMI (AUC=0.94), followed by the FIB4 index (AUC=0.67). In all subgroup analyses, except for BMI ≥25 kg/m², the FIB4 index had the second highest AUC for SMM decrease after BMI. Conclusion The FIB4 index may be useful for predicting pre-sarcopenia in patients with MASLD.

A misdiagnosis of syncope as a seizure can lead to catastrophic outcomes, and thus should be avoided. We herein present the cases of two young sisters who experienced transient loss of consciousness with convulsions and were diagnosed with epilepsy. After discovering that their asymptomatic mother had type-2 long QT syndrome (LQT2), it was found that the younger sister had LQT2, while the older sister did not. Although the 12-lead ECG of the younger sister showed notched T-waves, the corrected QT interval (422 ms) was normal, which precluded a diagnosis of LQT2. These cases provide clues to distinguish between LQT2-related arrhythmic events and epileptic events.