Publications by authors named "A Rei"
Article Synopsis
- - Rubinstein-Taybi syndrome (RTS) is a genetic condition characterized by intellectual disability, unique facial features, limb abnormalities, and unusual growth patterns, caused by mutations in the CBP and p300 genes.
- - A diverse range of clinical and diagnostic practices for RTS exists worldwide, highlighted by discussions among international experts and support groups.
- - This report presents consensus recommendations for clinical diagnostic criteria, molecular investigations, and long-term management of RTS, emphasizing the need for ongoing evaluation to improve patient care.
This case reports illustrates a 44-year-old Caucasian male with ileal Crohn´s disease under combined immunosuppression that first presented with unspecific constitutional symptoms, newly pancytopenia and elevated inflammatory markers. The infectious screening was negative except for an ileal abscess that resolved with conservative antibiotic therapy. Due to concerns for lymphoproliferative disease in a patient under anti-TNF and azathioprine, a myelogram was performed that ruled out dysplastic changes.
View Article and Find Full Text PDFBackground: Surveillance after gastric endoscopic submucosal dissection (ESD) is recommended for all patients owing to the persistent risk of metachronous gastric lesions (MGLs). We developed and validated a prediction score to estimate MGL risk after ESD for early neoplastic gastric lesions, to define an individualized and cost-saving approach.
Methods: Clinical predictors and a risk score were derived from meta-analysis data.