Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0392680 (shortness of breath)
5,217 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Shortness of breath developed in an 18-year-old man with Wiskott-Aldrich syndrome, and he was found to have a large mediastinal mass. The gallium scan was positive, and biopsy indicated a seminoma. After treatment with four cycles of chemotherapy, the mass completely resolved. Despite severe thrombocytopenia, he required only two platelet transfusions during therapy. Although lymphomas make up the vast majority of mediastinal tumors in patients with Wiskott-Aldrich syndrome, a positive gallium scan should not preclude the diagnosis of seminoma or the need for confirmatory tissue diagnosis. This report shows the possibility of uneventful and successful treatment of malignancy in a patient with Wiskott-Aldrich syndrome and severe thrombocytopenia.
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PMID:Mediastinal seminoma in a patient with Wiskott-Aldrich syndrome. 1243 43

Inhalation of aerosolized products generated by different electronic devices is called vaping. E-cigarettes or Vaping product use Associated Lung Injury (EVALI) outbreak peaked in August-September 2019 and gradually declined. EVALI remains a diagnosis of exclusion which presents as an acute lung injury in the vaping population. Vitamin E acetate and its products are implicated as one of the cytotoxic agents causing airway centered pneumonitis. Lipid laden macrophages are found in samples of BAL fluid but their role in cytopathology of the disease remains unclear. We present a 57 years old man who came to the emergency department at Monmouth Medical Center, New Jersey in fall, 2019. Reportedly he has been vaping THC about 100g every day for past three days. At initial presentation, he had fever, shortness of breath and hypoxia requiring supplemental oxygen. He was empirically treated with levofloxacin 500 mg for five days without a significant improvement in his symptoms. Non-contrast chest CT scan showed bilateral ground-glass opacities, indicative of diffuse alveolar damage. He underwent flexible bronchoscopy to rule out infective pneumonia followed by auto-immune work-up that was non-conclusive. He was given 1 mg/kg methylprednisolone with a quick taper of oral steroids leading to the resolution of symptoms. At six months follow-up, imaging showed near resolution of ground-glass opacities.
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PMID:E-cigarette or vaping product use associated lung injury, (EVALI) - A diagnosis of exclusion. 3277 91