Medical Student Research Forum Posters

Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy that results invariable neurologic disability and systemic complications1. Key variables (e.g. genotypeand age at onset) only partially correlate with neurologic function, which can range from isolated spastic paraparesis to profound global developmental delay.

Recent rise in the number and therapeutic potential of genome engineering technologies has generated excitement for their application in cardiovascular therapeutics. One significant barrier to their implementation is costly and time-consuming reagent development for novel variants. We have previously shown that disease-associated variants cluster in functional protein domains where variants are found in the general population at lower frequency.1,2 These findings may provide an opportunity to pre-emptively target multiple pathogenic variant clusters (“pathogenic hotspots”) that address a majority of pathogenic and likely pathogenic (P/LP) variants for a given disease with a small number of pre-designed reagents. Prime editing, a search-and-replace editing technology, can overwrite genomic sequences with a reverse transcriptase guided by a Cas9 nickase and prime editing guide (peg)RNA.3 We hypothesized that most cardiovascular disease-relevant genes in ClinVar would display regional variant clustering, and that multiple variants within a regional hotspot could be targeted with a limited number of prime editing reagents.

Atrial fibrillation (AF) is directly associated with cognitivedecline and dementia1,2. AF can alter cerebral blood flow3, which may disrupt white matter (WM) integrity, and lead to cerebral vascular disease (CVD). Cerebral free water (FW), derived from Diffusion Tensor Imaging (DTI), can predict most subtle WM microstructuralchanges in young healthy adults4,5 and is strongly associated with WM injury in older adults6.  Fractional anisotropy (FA), also derived from DTI, is a sensitive measure of brain connectivity. Decreased FA is associated with poorer cognitive and executive function 7.  This study aimed to investigate whether AF is a risk factor for CVD in non-demented individuals using two biomarkers: cerebral FW and FA.

Fragile X Syndrome (FXS) is one of the most common causes of intellectual disability. It is the result of the expansion of the trinucleotide CGG repeat (>200) in the fragile x messenger ribonucleoprotein 1 (FMR1) gene, leading to a deficiency or absence of the fragile X messenger ribonucleoprotein (FMRP). Many studies have found that there is a trend of IQdecline among FXS individuals around adolescent years. Recent studies also found that metformin rescues some of the cognitive deficits in FXS mouse models, and case reports show similar benefits in FXS individuals.

This suggests that metformin may have clinical value as a targeted treatment to slow IQ decline in FXS individuals. In this follow-up study, we are assessing pre- and post-metformin IQ scores among individuals with FXS after 1 year of treatment.

Our objectives were to describe clinical and genetic characteristics of a cohort of patients prospectively followed until death at the HDSA Center of Excellence at UC Davis multidisciplinary clinic, and to determine the relationship between CAGn and age at death.

There is significant variability in methods used to perform neurological examination in poorlyresponsive patients. Inconsistent and poor inter-examiner reliability may lead to poor,consequential clinical decision-making and care. Noxious stimuli are routinely administered to elicit motoric responses to determine the depth of unresponsiveness in comatose patients. However, no study has tested the reliability of noxious stimuli delivery (NSD) method or quantified applied force that elicit motor responses in patients with coma.

Neurological surgery is a historically challengingspecialty to match into, with match rates of 65%. With the USMLE Step 1 exam now graded on a pass/fail basis, there is piqued interest in whether Step 2 will become the “new” Step 1 as a factor to assess candidates for competitive specialties such asneurosurgery. To date, there is no literature that describes the differences in Step 2 scores between matched and unmatched allopathic seniors and how these differences have changed through time.

Our early sensory experiences and ability to explore our environment shapes our brain, perceptions and behavior. Active exploration provides kinematic and sensory feedbackwhich drives movement that are distributed in neural networks. Deprivation and unnatural environments effect fine motor precision, manual dexterity, bilateral coordination, balance and motor limb coordination.

On the contrary, naturalistic environments are key for cognitive function, stress regulation, and motor development. This study looks to quantify functional brain organization,motor cortex connectivity, corticospinal tract connectivity and use statistical analysis to correlate/predict neural or behavioralphenotypes that are demonstrated by the environment.

As the rate of cannabis induced psychosis increases in many parts of the world, it is important to understand the pathophysiology of this disorder. In this review we will attempt to connect cannabis induced physiological changes with new PET data on CB1receptors in patients with schizophrenia to provide a theoretical mechanisms of cannabis-induced psychosis in adolescence. Wepropose that adolescent cannabis induced psychosis is possibly induced by chronic usage of cannabis during an important neurodevelopmental timeframe. This induces CB1 receptor down regulation due to tolerance, a similar pathophysiological state seenin patients with schizophrenia. The risk of developing cannabis induced psychosis is proposed to be a combination of whencannabis use is first initiated, potency of cannabis, frequency of usage and genetic predisposition. After reviewing these steadilyincreasing data, we propose future studies and policy changes to further understand this mechanism and decrease the incidence ofadolescent cannabis induced psychosis.