Publications by authors named "S P Blagden"
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1 (La ribonucleoprotein 1).
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- NUC-3373 is an experimental drug designed to improve the treatment of advanced solid tumors by being a more effective alternative to 5-fluorouracil (5-FU), which has drawbacks like poor conversion to active form and high toxicity.
- The drug was tested on patients with persistent tumors, administered through IV, and aimed to determine the maximum tolerated dose (MTD) and assess its effectiveness and safety.
- Results showed NUC-3373 was generally well-tolerated, had a favorable pharmacokinetic profile, and provided stable disease responses in patients previously treated with traditional therapies, with the MTD established at 2500 mg/m weekly.
Background: Bimiralisib is a pan-PI3K/mTOR inhibitor demonstrating antitumor efficacy in preclinical models. The objectives of this study were to identify a maximum tolerated dose (MTD), pharmacokinetics (PK), a dosing schedule, and adverse events (AEs) in patients with advanced solid tumors.
Patients And Methods: Patients received oral bimiralisib to determine the MTD of one continuous (once daily) and two intermittent schedules (A: Days 1, 2 weekly; B: Days 1, 4 weekly) until progression or unacceptable AEs occurred.
Article Synopsis
- Li-Fraumeni syndrome (LFS) is a genetic disorder tied to high cancer risk due to TP53 gene mutations, with no approved preventive treatments currently available, although metformin shows promise in early studies.
- The MILI trial aims to assess the effectiveness of metformin combined with annual MRI surveillance in 224 adults with LFS, measuring cancer-free and tumor-free survival over five years.
- The study will also explore metformin's safety, quality of life effects, and its potential mechanisms as a cancer preventative, while evaluating the effectiveness of MRI scans in detecting cancer in LFS patients.