We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy. Approximately 70% (18/26) of patients starting pegvaliase achieved blood phenylalanine (Phe) <360 μmol/L, with an average of a 68 ± 24% decrease in blood Phe from baseline.
View Article and Find Full Text PDFThe tough, hydrogel glue produced by the slug Arion subfuscus achieves impressive performance through metal-based, protein cross-links. The primary sequence of these proteins was determined through transcriptome sequencing and proteome analysis by tandem mass spectrometry. The main proteins that correlate with adhesive function are a group of 11 small, highly abundant lectin-like proteins.
View Article and Find Full Text PDFObjective: To translate into Brazilian Portuguese the Autism Diagnostic Interview-Revised (ADI-R), an extremely useful diagnostic tool in autism.
Methods: A case-control study was done to validate the ADI-R. After being translated, the interview was applied in a sample of 20 patients with autism and 20 patients with intellectual disability without autism, in order to obtain the initial psychometric properties.
The effects of medroxyprogesterone acetate (MPA) at high dosages on ACTH and cortisol plasma levels have been studied on seven patients which were carriers of ER+ and PR+ neoplasm. ACTH and cortisol plasma levels were studied at 8:00 a.m.
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