Publications by authors named "E C De Boer"
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFA Pedigree With Complement Hyperactivation, Angiopathic Thrombosis, and Severe Protein-losing Enteropathy (CHAPLE) Disease: Variable Penetrance and Treatment With Pozelimab.
Clin Gastroenterol Hepatol
December 2024
Background: Primary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.
Methods: This study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results.
Normothermic machine perfusion (NMP) is a clinical strategy to reduce renal ischemia-reperfusion injury (IRI). Optimal NMP should restore metabolism and minimize IRI induced inflammatory responses. Microdialysis was used to evaluate renal metabolism.
View Article and Find Full Text PDFArticle Synopsis
- Treatment of hypersensitivity pneumonitis involves removing the causing antigen and can include immunosuppression or antifibrotic therapy, but it's uncertain which is more effective for patients with fibrotic forms of the disease.
- A study was conducted to see if specific clinical characteristics could predict improvements in lung function from immunosuppressive treatment in patients with chronic hypersensitivity pneumonitis.
- Results showed that immunosuppression did not improve lung function in fibrotic patients and indicated that antifibrotic therapy may be more beneficial for these patients, as their lung function declines regardless of immunosuppressive treatment.