Publications by authors named "Michaela Wiednig"
Hereditary angioedema in Austria: prevalence and regional peculiarities.
J Dtsch Dermatol Ges
April 2019
Background: Data on the prevalence and clinical features of Austrian patients with hereditary angioedema (HAE) with C1-inhibitor (C1-INH) deficiency (HAE-1) or dysfunction (HAE-2) are lacking.
Methods: Current baseline data were collected in a national survey. The records of HAE patients at the Medical University of Graz were analyzed with regard to clinical characteristics.
Hereditary angioedema (HAE) is a rare congenital disorder characterized by recurrent episodes of subcutaneous or submucosal edema. Laryngeal manifestations can be life-threatening. In the majority of cases, the disease can be adequately treated with an on-demand approach--in some cases, however, short- or long-term prophylaxis is indicated.
View Article and Find Full Text PDFBackground: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) may affect health-related quality of life (HRQoL). A specific HRQoL questionnaire for adult patients with C1-INH-HAE, the HAE-QoL, has recently been developed in Spain.
Objective: The objective of this study was to perform a cross-cultural validation and psychometric study of the HAE-QoL in an international setting.
Article Synopsis
- Cerebral cavernous malformations (CCM) are hereditary vascular abnormalities that can be inherited in a familial pattern or occur in isolated cases, often diagnosed through MRI.
- Genetic testing is recommended if there's a family history of CCM or if patients show symptoms like headaches or neurological issues; mutation detection rates were 87% in familial cases and 57% in isolated ones.
- A significant 31 novel mutations were identified, with an increase in CCM3 mutations; some early-onset cases raise concerns about the implications of predictive genetic testing in younger siblings.
Hereditary angioedema is a rare and potentially fatal autosomal dominant disorder characterised by unpredictable skin, gastrointestinal tract or respiratory tract oedema. Plasma-derived C1-esterase inhibitors are effective in the prophylaxis or treatment of hereditary angioedema type I and II attacks, but must be administered intravenously. This may be problematic in patients with venous access difficulties.
View Article and Find Full Text PDFBackground: The detection of specific serum immunoglobulin E (sIgE) to Hymenoptera venoms is an established diagnostic tool to diagnose insect venom hypersensitivity. However, the specificity of sIgE detection is a debated issue.
Methods: In 145 subjects, total IgE (tIgE) and sIgE to Hymenoptera venoms as well as sIgE to rapeseed as a marker of cross-reactive carbohydrate determinants were measured.