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Immunotherapy-related secondary hemophagocytosis in a glioblastoma patient: response to cytokine-directed therapy.
Immunotherapy
January 2025
Department of Internal Medicine, Division of Medical Oncology, Koc University School of Medicine, Istanbul, Türkiye.
Hemophagocytic Lymphohistiocytosis (HLH) is a severe and potentially life-threatening condition characterized by an excessive and uncontrolled activation of the immune system. ICI-related hemophagocytic lymphohistiocytosis (irHLH) is a rare immune-related adverse event with an incidence of 0.03% to 0.
View Article and Find Full Text PDFValidating and utilizing dried blood spots for family screening: Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
J Allergy Clin Immunol Glob
February 2025
Division of Rheumatology & Clinical Immunology, Department of Medicine, Queen Mary Hospital, Hong Kong.
Background: Hereditary angioedema (HAE) is a rare genetic disorder with potentially life-threatening consequences, traditionally diagnosed by conventional laboratory methods that can be resource intensive and inconvenient. Incorporating dried blood spot (DBS) tests may be a promising alternative for diagnosing HAE and family screening.
Objective: This study aimed to validate DBS with conventional laboratory assays among confirmed C1 esterase inhibitor (C1-INH) HAE patients and assess the utility of DBS in a Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
Bilobectomy for Neglected Foreign Body Aspiration: A Case Report.
Cureus
December 2024
Thoracic Surgery, King Saud Medical City, Riyadh, SAU.
Bilobectomy for the extraction of an aspirated foreign body (FB) is a major surgical procedure and is exceedingly rare. We present a case of a 16-year-old male with a prolonged history of recurring chest infections, which had been treated as community-acquired pneumonia (CAP). A thorough review of medical history and diagnostic imaging studies revealed that the patient had experienced a foreign body aspiration (FBA) involving a push pin four years ago.
View Article and Find Full Text PDFPatient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.
Mol Genet Metab Rep
March 2025
Alnylam Pharmaceuticals, Maidenhead, UK.
Background: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications. In a phase 1/2 open-label extension (OLE) study and the phase 3 ENVISION study, givosiran led to sustained improvement in annualized attack rate and quality of life (QOL) measures. To capture the patient experience of symptoms and impacts of AHP, and any changes experienced during treatment with givosiran, qualitative interviews were conducted with study participants.
View Article and Find Full Text PDFSmall molecules in idiopathic inflammatory myopathies: a systematic review and a multicenter case series about Janus kinase inhibitors and apremilast.
Reumatismo
January 2025
Rheumatology Unit, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo.
Objective: Idiopathic inflammatory myopathies (IIM) are rare autoimmune diseases that primarily affect striated muscles; skin, joints, and lungs may be involved with different degrees of severity. Traditional treatment relies on high-dose glucocorticoids and conventional synthetic disease-modifying antirheumatic drugs.
Methods: A growing amount of evidence is demonstrating the potential role of novel treatments in the management of IIM.
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