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Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associated protein tau by both neuronal and glial cell pathologies. Genetic contributors may mediate these differences; however, the genetics of PSP remain underexplored. Here we conduct the largest genome-wide association study (GWAS) of PSP which includes 2779 cases (2595 neuropathologically-confirmed) and 5584 controls and identify six independent PSP susceptibility loci with genome-wide significant (P

BackgroundHealth care providers are increasingly screening patients for unmet social needs (eg, food, housing, transportation, and social isolation) and referring patients to relevant community-based resources and social services. Patients’ connection to referred services is often low, however, suggesting the need for additional support to facilitate engagement with resources. SMS text messaging presents an opportunity to address barriers related to contacting resources in an accessible, scalable, and low-cost manner. ObjectiveIn this multi-methods pilot study, we aim to develop an automated SMS text message–based intervention to promote patient connection to referred social needs resources within 2 weeks of the initial referral and to evaluate its feasibility and patient acceptability. This protocol describes the intervention, conceptual underpinnings, study design, and evaluation plan to provide a detailed illustration of how SMS technology can complement current social needs screening and referral practice patterns without disrupting care. MethodsFor this pilot prospective cohort study, this SMS text message–based intervention augments an existing social needs screening, referral, and navigation program at a federally qualified health center. Patients who received at least one referral for any identified unmet social need are sent 2 rounds of SMS messages over 2 weeks. The first round consists of 5-10 messages that deliver descriptions of and contact information for the referred resources. The second round consists of 2 messages that offer a brief reminder to contact the resources. Participants will evaluate the intervention via a survey and a semistructured interview, informed by an adapted technology acceptance model. Rapid qualitative and thematic analysis will be used to extract themes from the responses. Primary outcomes are implementation feasibility and patient acceptability. Secondary outcomes relate to intervention effectiveness: self-reported attempt to connect and successful connection to referred resources 2 weeks after the initial referral encounter. ResultsThe study received regulatory approval in May 2021, and we anticipate enrolling 15-20 participants for this initial pilot. ConclusionsThis protocol presents detailed implementation methods about a novel automated SMS intervention for social care integration within primary care. By sharing the study protocol early, we intend to facilitate the development and adoption of similar tools across different clinical settings, as more health care providers seek to address the unmet social needs of patients. Study findings will provide practical insights into the design and implementation of SMS text message–based interventions to improve social and medical care coordination. International Registered Report Identifier (IRRID)DERR1-10.2196/37316

Perfusion fixation is a well-established technique in animal research to improve preservation quality in the study of many tissues, including the brain. There is a growing interest in using perfusion to fix postmortem human brain tissue to achieve the highest fidelity preservation for downstream high-resolution morphomolecular brain mapping studies. Numerous practical barriers arise when applying perfusion fixation in brain banking settings, including the large mass of the organ, degradation of vascular integrity and patency prior to the start of the procedure, and differing investigator goals sometimes necessitating part of the brain to be frozen. As a result, there is a critical need to establish a perfusion fixation procedure in brain banking that is flexible and scalable. This technical report describes our approach to developing an ex situ perfusion fixation protocol. We discuss the challenges encountered and lessons learned while implementing this procedure. Routine morphological staining and RNA in situ hybridization data show that the perfused brains have well-preserved tissue cytoarchitecture and intact biomolecular signal. However, it remains uncertain whether this procedure leads to improved histology quality compared to immersion fixation. Additionally, ex vivo magnetic resonance imaging (MRI) data suggest that the perfusion fixation protocol may introduce imaging artifacts in the form of air bubbles in the vasculature. We conclude with further research directions to investigate the use of perfusion fixation as a rigorous and reproducible alternative to immersion fixation for the preparation of postmortem human brains.

ABSTRACT IMPACT: This work will inform and improve the way we assess and treat distress in women with endometrial cancer. OBJECTIVES/GOALS: Distress from cancer is associated with worse processes of care. Differences in outcomes by race/ethnicity in endometrial cancer (EC) are well documented, but differences in distress have not been previously explored. Here we characterize the association between race/ethnicity, distress scores, and stressors reported by patients with EC. METHODS/STUDY POPULATION: Patients presenting to a single academic outpatient gynecologic oncology practice for initial evaluation of known EC from January 2013-May 2020 were included. The electronic health record was used to abstract demographics, National Comprehensive Cancer Network Distress Thermometer and Problem List (NCCN DT) scores and stressor categories (physical, emotional, spiritual, practical, and family) from the initial encounter. Referral to support services occurs at NCCN DT score ≥4. We excluded women who received prior cancer-directed therapy and those without an initial NCCN DT score. Summary statistics were tabulated for demographics. Mann-Whitney U tests were used for inter-group difference on continuous variables and 2-sample tests for equality of proportions were used for binary variables. RESULTS/ANTICIPATED RESULTS: 412 non-Hispanic White (NHW, mean age 63) and 149 non-Hispanic Black (NHB, mean age 65) women were included in our analysis. More NHB women presented with high-grade EC (53.7%) vs NHW women (21.9%) and fewer NHB women were privately insured (32% vs 52%). Median distress scores were higher in NHW women compared to their NHB counterparts (4 vs. 2, p30% more high-risk histology cancers in this cohort. This difference leads to disparities in referral to additional support services, which may affect quality of care and quality of life.

OBJECTIVES/GOALS: 1. Understand the association between patient perceptions of care measured by the Interpersonal Processes of Care (IPC) Survey and glycemic control, appointment no-shows/cancellations and medication adherence in patients with type II diabetes. 2. Determine how these relationships differ by race for non-Hispanic White and Black patients. METHODS/STUDY POPULATION: This is a cross-sectional study of a random sample of 100 White and 100 Black Type II diabetic patients followed in Duke primary care clinics and prescribed antihyperglycemic medication. We will recruit through email and phone calls. Enrolled patients will complete the Interpersonal Processes of Care Short Form and Extent of Medication Adherence survey to measure patient perceptions of care (predictor) and medication adherence (secondary outcome). No show appointments and cancellations (secondary outcomes) and most recent hemoglobin A1c (primary outcome) will be collected from the Electronic Medical Record. We will also collect basic demographic information, insurance status, financial security, significant co-morbidities, and number and type (subcutaneous vs oral) of antihyperglycemic medications. RESULTS/ANTICIPATED RESULTS: -The study is powered to detect a 0.6% difference in HbA1c, our primary outcome, between high and low scorers on the Interpersonal Processes of Care subdomains. -We expect that higher patient scores in the positive domains of the IPC survey and lower DISCUSSION/SIGNIFICANCE OF IMPACT: This study will provide information to develop and implement targeted interventions to reduce racial and ethnic disparities in patients with Type II diabetes. We hope to gain information on potentially modifiable factors in patient-provider interactions that can be intervened upon to improve prevention and long-term outcomes in these populations.

During 1974 in the West Midlands of England, 38% of children less than 6 years old with enteritis were excreting rotaviruses. Children aged from 6 months to 3 years were those most commonly infected. Rotavirus infections were most common during winter with only a few sporadic cases during summer. A possible pathogen was detected in 59% of patients examined.