41 research outputs found

    Pulmonary Epithelioid Hemangioendothelioma in a Patient with Crohn’s Disease

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    Pulmonary epithelioid hemangioendothelioma (PEH) is a rare neoplasm, largely unresponsive to chemotherapeutic medications, and with varied prognosis. Imaging on computerized tomography may demonstrate perivascular nodules, but diagnosis is ultimately made on biopsy with immunohistochemical analysis. Here we describe a case of PEH in a 14-year-old male with Crohn’s disease, which, to our knowledge, has not previously been described in the literature

    Plasma cell free next-generation sequencing detects an unusual pneumonia pathogen in an immunocompetent adolescent with acute respiratory distress syndrome

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    This case details a rapid diagnosis of legionella pneumonia causing severe acute respiratory distress syndrome (ARDS) in an otherwise healthy adolescent through plasma microbial cell-free DNA next generation sequencing (mcfDNA-NGS). Diagnosis by mcfDNA-NGS of this unexpected pathogen led to narrowing of antimicrobials and the addition of glucocorticoids as adjunctive therapy for ARDS

    Pulmonary Epithelioid Hemangioendothelioma in a Patient with Crohn’s Disease

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    Pulmonary epithelioid hemangioendothelioma (PEH) is a rare neoplasm, largely unresponsive to chemotherapeutic medications, and with varied prognosis. Imaging on computerized tomography may demonstrate perivascular nodules, but diagnosis is ultimately made on biopsy with immunohistochemical analysis. Here we describe a case of PEH in a 14-year-old male with Crohn’s disease, which, to our knowledge, has not previously been described in the literature

    A 12-year-old-boy with Chronic Granulomatous Disease and a Persistent Dry Cough

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    672. Diagnosis of Rocky Mountain Spotted Fever Using Plasma Metagenomic Next-Generation Sequencing

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    Abstract Background Rocky mountain spotted fever (RMSF), caused by Rickettsia rickettsii, incurs significant morbidity and mortality, especially in children. Early in the course of illness, standard diagnostic tests are of limited sensitivity, and diagnosis is often based on clinical symptoms and local epidemiology. The diagnosis can be missed in areas where RMSF is not endemic, and a delay in initiation of therapy may lead to poor clinical outcomes. Plasma metagenomic next-generation sequencing (mNGS), with turnaround times approaching 48 hours, may be a useful adjunctive tool in the diagnosis of RMSF. Methods We describe four children hospitalized with RMSF between January 1, 2017 to May 15, 2021 at a tertiary children’s hospital in southern California. All had plasma mNGS and rickettsial serologic testing as part of clinical care. Results mNGS detected Rickettsia rickettsii in all 4 patients. Only 2 subjects had positive serologic testing initially and required repeat testing in the convalescent stage to confirm RMSF. The mean turnaround time for mNGS was 2.75 days, which was comparable to serologic testing. Antibiotic therapy was changed in three subjects as a result of the plasma mNGS result. Conclusion Plasma mNGS may be a useful diagnostic modality early in the disease course of RMSF. Disclosures Lauge Farnaes, MD, PhD, Cardea Bio (Advisor or Review Panel member)IDbyDNA (Employee) </jats:sec
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