Brushaber, Danielle E

This study explores US medical students’ intent to practice in underserved areas, analyzed by demographic characteristics.

AbstractObjectiveMAPT mutations typically cause behavioral variant frontotemporal dementia with or without parkinsonism. Previous studies have shown that symptomatic MAPT mutation carriers have frontotemporal atrophy, yet studies have shown mixed results as to whether presymptomatic carriers have low gray matter volumes. To elucidate whether presymptomatic carriers have lower structural brain volumes within regions atrophied during the symptomatic phase, we studied a large cohort of MAPT mutation carriers using a voxelwise approach.MethodsWe studied 22 symptomatic carriers (age 54.7 ± 9.1, 13 female) and 43 presymptomatic carriers (age 39.2 ± 10.4, 21 female). Symptomatic carriers’ clinical syndromes included: behavioral variant frontotemporal dementia (18), an amnestic dementia syndrome (2), Parkinson’s disease (1), and mild cognitive impairment (1). We performed voxel‐based morphometry on T1 images and assessed brain volumetrics by clinical subgroup, age, and mutation subtype.ResultsSymptomatic carriers showed gray matter atrophy in bilateral frontotemporal cortex, insula, and striatum, and white matter atrophy in bilateral corpus callosum and uncinate fasciculus. Approximately 20% of presymptomatic carriers had low gray matter volumes in bilateral hippocampus, amygdala, and lateral temporal cortex. Within these regions, low gray matter volumes emerged in a subset of presymptomatic carriers as early as their thirties. Low white matter volumes arose infrequently among presymptomatic carriers.InterpretationA subset of presymptomatic MAPT mutation carriers showed low volumes in mesial temporal lobe, the region ubiquitously atrophied in all symptomatic carriers. With each decade of age, an increasing percentage of presymptomatic carriers showed low mesial temporal volume, suggestive of early neurodegeneration.

Introduction: Improving flu vaccination rates in the general population is an important and effective strategy toward reducing morbidity, mortality, and the cost of seasonal influenza. In order to optimize immunization strategies, factors associated with decreased vaccination rates need to be explored. The literature suggests that there is a gender difference in the rate of influenza vaccination but is limited to population-based survey studies and also is inconsistent as to which gender has a higher rate of vaccination. The purpose of this study was to evaluate for a gender-based difference in the rate of influenza vaccination among patients who presented for an annual physical examination during the 2018 to 2019 influenza season. Methods: In this multi-site, retrospective chart review, a total of 1193 patients (608 female and 585 male) who underwent an annual physical examination in April of 2019 were included. Baseline medical information was collected, as well as demographic characteristics and influenza vaccination status. The proportion of patients who underwent influenza vaccination was compared between males and females using multivariable logistic regression models; odds ratios (ORs) were estimated. Results: The likelihood of influenza vaccination was significantly higher in females (62.8%) compared to males (53.2%) in both unadjusted analysis (OR = 1.49, P < .001) and in multivariable analysis adjusting for the potential confounding influences of clinic location, BMI, insurance type, and occupation (OR = 1.42, P = .005). Interestingly, a higher influenza vaccination rate for females compared to males was observed in patients age<60 years (OR = 1.70, P = .025) and between ages 60 and 75 (OR = 1.66, P = .009), but not for patients older than 75 years (OR = 1.12, P = .66). Conclusion: Our findings indicate that the rate of influenza vaccination is higher for females than for males who presented for an annual preventive physical exam and who are younger than 75 years old.

Background: Colorectal cancer (CRC) is the fourth leading cause of cancer-related death in the United States, despite being largely preventable and treatable. Improving overall screening rates among both men and women is considered an important and effective strategy toward reducing morbidity and mortality from CRC. In order to optimize screening strategies, factors associated with decreased compliance need to be understood. This study aimed to compare initial CRC screening rates between males and females in a population of patients who presented for an annual physical examination. Methods: A retrospective chart review study of 380 patients designed to compare rates of initial CRC screening between males and females was conducted. Patients who were seen at our institution for an annual physical examination and were between 51 and 60 years of age were included. Results: There was no evidence of a difference in the rate of initial colon cancer screening between females (83.0%) and males (80.9%) in either unadjusted analysis (odds ratio = 1.16, P = .59) or in multivariable analysis adjusting for potential confounding variables (odds ratio = 1.16, P = .61). Conclusions: There was no significant difference in the rate of initial CRC screening between males and females who presented for an annual physical examination. This suggests that designing interventions to improve screening specific to gender may not be needed in a population of patients who attend routine preventive health examinations. Further study is needed in the general population to examine for gender-based differences in initial CRC screening among patients who do not regularly follow up for preventive examinations.

Abstract Background Intronic variant rs564309 in tripartite motif containing 11 (TRIM11 ) is associated with clinical phenotypic differences in progressive supranuclear palsy (PSP), whereby the minor allele (A) is more common in atypical PSP than typical PSP (PSP‐Richardson's syndrome). However, rs564309 has not been investigated relative to neuropathological outcomes. Objective Evaluate the association of rs564309 with the neuropathologically assessed severity of tau pathology, as measured by semi‐quantitative scores for neurofibrillary tangles, tufted astrocytes, neuropil threads, and oligodendroglial coiled bodies. Methods 797 neuropathologically confirmed PSP cases were genotyped for TRIM11 rs564309 and assessed for tau pathology across 20 neuroanatomical regions. Tau pathology measures and age at death were examined for association with TRIM11 rs564309‐A using multivariable linear regression models. Results TRIM11 rs564309‐A was associated with increased neurofibrillary tangles pathology ( P = 0.050), but was not significantly associated with age at death, neuropil threads, coiled bodies, or tufted astrocytes tau pathology scores. Conclusions TRIM11 rs564309 may influence burden of neurofibrillary tangles tau pathology in PSP; further study is warranted. © 2020 International Parkinson and Movement Disorder Society

AbstractIntroductionThe Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic and familial frontotemporal dementia (FTD) participants and study longitudinal changes.MethodsWe screened the major dementia‐associated genes in 302 sporadic and 390 familial (symptomatic or at‐risk) participants enrolled in these studies.ResultsAmong the sporadic patients, 16 (5.3%) carried chromosome 9 open reading frame 72 (C9orf72), microtubule‐associated protein tau (MAPT), and progranulin (GRN) pathogenic variants, whereas in the familial series we identified 207 carriers from 146 families. Of interest, one patient was found to carry a homozygous C9orf72 expansion, while another carried both a C9orf72 expansion and a GRN pathogenic variant. We also identified likely pathogenic variants in the TAR DNA binding protein (TARDBP), presenilin 1 (PSEN1), and valosin containing protein (VCP) genes, and a subset of variants of unknown significance in other rare FTD genes.DiscussionOur study reports the genetic characterization of a large FTD series and supports an unbiased sequencing screen, irrespective of clinical presentation or family history.