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| http://dx.doi.org/10.5811/westjem.2014.6.22525 | DOI Listing |
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Validating 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).
Gut microbial alteration in chronic spontaneous urticaria unresponsive to second generation antihistamines and its correlation with disease characteristics- a cross-sectional case-control study.
Clin Transl Allergy
January 2025
Department of Dermatology, Hospital del Mar Research Institute, Barcelona, Spain.
Background: Gut microbial involvement has been speculated in chronic spontaneous urticaria (CSU). The aim of the study was to compare the gut microbiome composition and diversity in CSU patients uncontrolled with second-generation antihistamines (sgAHs) and healthy individuals, as well as to explore any association between gut microbiome and disease characteristics.
Methods: A cross-sectional case-control study including 20 CSU patients unresponsive to standard doses of sgAHs, and 15 age-and-sex matched healthy controls was conducted.
Recurrent Hand Oedema and Abdominal Pain.
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Pediatric Allergy Unit, Department of Pediatrics, Unidade Local de Saúde de São João, Porto, Portugal.
Advocacy in Action: International Patient Group Improves Hereditary Angioedema Diagnosis and Care Across the Asia-Pacific.
Clin Exp Allergy
January 2025
Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
This study demonstrates that patient advocacy groups significantly enhance medication availability and improve diagnosis of hereditary angioedema (HAE), particularly in emerging economies within the Asia-Pacific region. This study supports integrating patient advocacy group involvement into management guidelines, emphasising their role in improving access to diagnostics and treatment for HAE.
View Article and Find Full Text PDFThe adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience.
Orphanet J Rare Dis
January 2025
Ionis Pharmaceuticals, Inc, 2855 Gazelle Court, Carlsbad, CA, 92010, USA.
Background: Hereditary angioedema (HAE) is a rare, autosomal dominant disorder causing swelling attacks in various parts of the body, resulting in impacts on health-related quality of life (HRQoL). The symptoms of HAE and its impacts on HRQoL have been well-documented in adults; however, relatively little is known about the experiences of adolescents with HAE. The objective of this study was to use qualitative interviews to investigate how adolescents experience HAE symptoms and how HAE impacts their HRQoL.
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