Publications by authors named "M Rafii"
Background: Investigators conducting clinical trials have an ethical, scientific, and regulatory obligation to protect the safety of trial participants. Traditionally, safety monitoring includes manual review and coding of adverse event data by expert clinicians.
Objectives: Our study explores the use of natural language processing (NLP) and artificial intelligence (AI) methods to streamline and standardize clinician coding of adverse event data in Alzheimer's disease (AD) clinical trials.
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.
Methods: A multi-center, retrospective study of individuals with DSRD was performed.
The U1 snRNP complex recognizes pre-mRNA splicing sites in the early stages of spliceosome assembly and suppresses premature cleavage and polyadenylation. Its dysfunction may precede Alzheimer's disease (AD) hallmarks. Here we evaluated the effects of a synthetic single-stranded cDNA (APT20TTMG) that interacts with U1 snRNP, in iPSC-derived neurons from a donor diagnosed with AD and in the SAMP8 mouse model.
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- - Adults with Down syndrome are genetically prone to developing Alzheimer's disease after 40, and their cholinergic system, crucial for cognitive function, shows a decline similar to Alzheimer's pathology.
- - A study using PET imaging compared cholinergic terminals in 16 non-demented adults with Down syndrome to 20 neurotypically developed individuals, focusing on brain areas like the cerebellum and cortex.
- - Results revealed that adults with Down syndrome had higher cholinergic terminal density in early adulthood, but experienced a faster decline with age compared to their neurotypical counterparts.