Publications by authors named "A Minder"
Article Synopsis
- The erythropoietic protoporphyrias are three rare genetic disorders that disrupt heme production, causing a buildup of protoporphyrin IX (PPIX) in red blood cells and leading to severe skin pain from light exposure, starting in early childhood.
- Diagnosis involves measuring PPIX levels in the blood, and complications can include liver issues, gallstones, anemia, and vitamin D deficiency.
- Management focuses on avoiding light triggers, addressing complications, and using treatments like afamelanotide to improve quality of life, with careful consideration of iron supplementation depending on the specific disorder.
Objectives: In our study, we aimed to characterise adult childhood cancer survivors (ACCS), assess their health issues, gauge health-related quality of life (HRQOL) and evaluate visit satisfaction.
Design: Prospective cohort study using data from clinical visits and questionnaires.
Setting: Interdisciplinary follow-up programme for ACCS based on the long-term follow-up (LTFU) guidelines of the Children's Oncology Group and overseen by internists in two Swiss hospitals.
Article Synopsis
- Acute porphyrias are inherited disorders that disrupt heme production, leading to severe neurovisceral symptoms under certain triggers.
- A Swiss patient diagnosed with acute intermittent porphyria exhibited typical metabolic patterns, but routine genetic tests did not reveal any mutations in the expected gene.
- Advanced sequencing techniques uncovered a de novo mosaic mutation in the patient, suggesting that such mutations may play a role in acute porphyrias when standard tests fail to identify a cause.