Neurofibromatosis-1 or von Recklinghausen's disease is an autosomal dominant disorder. Cafe au lait macules are generally the initial presenting feature of the disease, and there can be varying degrees of involvement of the skeletal, neurological, and pulmonary organ systems as the disease progresses.
Point‐of‐care ultrasound (POCUS) is becoming an essential skill for internists. To date, there are no professional guidelines for how POCUS skills should be taught to medical students. A panel of POCUS experts from seven academic medical centers in the United States was convened to describe the components of independently developed IM clerkship POCUS training programs, identify areas of similarity and difference, and propose recommendations for alignment.
A 61-year-old male, with a history of emphysema, obstructive sleep apnea, and hypertension, presented to the emergency room with worsening shortness of breath over a three-month period. The patient also complained of orthopnea, paroxysmal nocturnal dyspnea, and progressively worsening lower limb swelling. On examination, the patient had jugular venous distension, bilateral lower extremity edema, and bibasilar crackles. The laboratory evaluation showed an elevated B-natriuretic peptide level and a normal troponin level. A transthoracic echocardiogram (TTE) showed a reduced left ventricular ejection fraction (LVEF) of 20%-25% with prominent hyper-trabeculations noted in the left ventricle, most prominent in the lateral and apical walls. These findings were concerning for left ventricular non-compaction (LVNC). The patient underwent left heart catheterization, which did not show obstructive coronary disease as a cause of his cardiomyopathy. The patient was managed with guideline-directed therapy for heart failure and was started on warfarin due to the increased risk of thromboembolism associated with LVNC. During his admission, he exhibited multiple episodes of nonsustained ventricular tachycardia and was subsequently evaluated by electrophysiology (EP). He was discharged home with a wearable cardioverter defibrillator with instructions to follow up with EP in three months for an evaluation of implantable cardioverter-defibrillator (ICD) placement for primary prevention.
Methemoglobinemia occurs as iron in heme is oxidized to its ferric state, resulting in a decreased ability of hemoglobin to bind and release oxygen. Rasburicase is a recombinant urate-oxidase enzyme used in the prevention of tumor lysis syndrome. Methemoglobinemia can occur as a rare complication of treatment with rasburicase, primarily in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Methylene blue, an agent used for treating methemoglobinemia, should be avoided in patients with G6PD deficiency. In patients with G6PD deficiency, methylene blue is inadequately reduced to its active form, which then causes the methylene blue to further the oxidize the hemoglobin to methemoglobin that can result in hemolysis.
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