Publications by authors named "Josef Pichl"
Purpose: European Patient Advocacy Groups (ePAGs) within the Endo-ERN identified a lack of knowledge about quality of care (QoC) of patients with multiple endocrine neoplasia (MEN). The aim of this study was to identify inequalities in care and to encourage improvements.
Methods: The European MEN Alliance (EMENA) developed and conducted a survey, using the European Commissions' EUSurvey platform.
Background: Kaposi sarcoma (KS) is a malignant disease most commonly diagnosed in the setting of a human immunodeficiency virus (HIV) infection and in patients receiving immunosuppressive treatment. Pulmonary KS has never been reported in association with endogenous Cushing's syndrome (CS).
Case Presentation: A 60-year-old woman presented with symptoms and signs of CS.
Objective: Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impairment can result. Our aim was to describe the phenotypic variance of this rare disorder in a large series and to evaluate the outcome after long-term treatment.
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- - Multiple endocrine neoplasia type 2 is linked to specific mutations in the RET gene, particularly in exon 10, with limited existing data on their effects.
- - The International RET Exon 10 Consortium conducted a study with 340 subjects to analyze different clinical-risk profiles related to medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism associated with these mutations.
- - Findings revealed varying rates of disease presentation based on specific codon mutations, with a higher penetrance for MTC and a correlation between advanced disease stages and the position of mutations within the gene.