Neurology Commons^™

Genetic Contributors Of Incident Stroke In 10,700 African Americans With Hypertension: A Meta-Analysis From The Genetics Of Hypertension Associated Treatments And Reasons For Geographic And Racial Differences In Stroke Studies, Nicole D. Armstrong, Vinodh Srinivasasainagendra, Amit Patki, Rikki M. Tanner, Bertha A. Hidalgo, Hemant K. Tiwari, Nita A. Limdi, Ethan M. Lange, Leslie A. Lange, Donna K. Arnett, Marguerite R. Irvin

Epidemiology and Environmental Health Faculty Publications

Background: African Americans (AAs) suffer a higher stroke burden due to hypertension. Identifying genetic contributors to stroke among AAs with hypertension is critical to understanding the genetic basis of the disease, as well as detecting at-risk individuals.

Methods: In a population comprising over 10,700 AAs treated for hypertension from the Genetics of Hypertension Associated Treatments (GenHAT) and Reasons for Geographic and Racial Differences in Stroke (REGARDS) studies, we performed an inverse variance-weighted meta-analysis of incident stroke. Additionally, we tested the predictive accuracy of a polygenic risk score (PRS) derived from a European ancestral population in both GenHAT and REGARDS AAs …

Construct Validity For The Self-Reported Competency And Sub-Construct Associated Characteristics Of Romanian Physicians In Autism Spectrum Disorder, Mohammad H Rahbar, Iuliana Dobrescu, Shezeen Gillani, Manouchehr Hessabi, Sori Kim, Mihaela Stancu, Florina Rad

Journal Articles

BACKGROUND: Lack of physicians' knowledge regarding mental health, including Autism Spectrum Disorder (ASD) could have adverse effects on affected individuals' health and quality of life. The purpose of this study was to provide construct validity for a modified questionnaire in order to determine the self-reported competency for underlying sub-constructs in ASD, make inferences on perceived competence in ASD based on a sample of Romanian physicians, and identify physicians' characteristics associated with these sub-domains of competency.

METHODS: For this survey, we modified a questionnaire that was used in Pakistan and Turkey, and administered it to a sample of 383 practicing physicians …

Conference Proceedings: Select Abstracts Presented At 2021 Advocate Aurora Health Scientific Day

Journal of Patient-Centered Research and Reviews

Abstracts published within this supplement were presented at the 47th annual Advocate Aurora Health Scientific Day, held virtually on May 26, 2021. This research symposium provides a forum for disseminating results from studies conducted by faculty, fellows, residents, and other allied health professionals associated with Midwest-based health system Advocate Aurora Health, which publishes the Journal of Patient-Centered Research and Reviews.

Analysis Of Genes (Tmem106b, Grn, Abcc9, Kcnmb2, And Apoe) Implicated In Risk For Late-Nc And Hippocampal Sclerosis Provides Pathogenetic Insights: A Retrospective Genetic Association Study, Adam J. Dugan, Peter T. Nelson, Yuriko Katsumata, Lincoln M. P. Shade, Kevin L. Boehme, Merilee A. Teylan, Matthew D. Cykowski, Shubhabrata Mukherjee, John S. K. Kauwe, Timothy J. Hohman, Julie A. Schneider, Alzheimer’S Disease Genetics Consortium, David W. Fardo

Biostatistics Faculty Publications

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) is the most prevalent subtype of TDP-43 proteinopathy, affecting up to 1/3rd of aged persons. LATE-NC often co-occurs with hippocampal sclerosis (HS) pathology. It is currently unknown why some individuals with LATE-NC develop HS while others do not, but genetics may play a role. Previous studies found associations between LATE-NC phenotypes and specific genes: TMEM106B, GRN, ABCC9, KCNMB2, and APOE. Data from research participants with genomic and autopsy measures from the National Alzheimer’s Coordinating Center (NACC; n = 631 subjects included) and the Religious Orders Study and Memory …

Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz

Research Days

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy characterized by slowly progressive muscle weakness. Symptoms initially involve the facial and shoulder girdle muscles, with later involvement of the distal lower extremities, pelvic girdle and proximal lower extremities. FSHD type 1 (FHSD1) is the most common form (~95% of individuals) and is caused by deletion of microsatellite repeats in the D4Z4 region on chromosome 4 (4q35). Normal individuals have >10 repeats whereas individuals with FSHD1 have 1-10 repeats. There is significant variability in regards to disease severity, rates of progression and functional outcomes, but …

Rule Out Screening For Undiagnosed Dementia And Alzheimer’S Disease Using An Ehr Based Machine Learning Solution, Branum Stephan, David A. Julovich, Dustin Bracy, Jeff Nguyen

SMU Data Science Review

Abstract. Current detection methods for Dementia and Alzheimer’s disease include cerebral spinal fluid (CSF) markers and/or the use of positron emission tomography (PET) imaging, both being high-cost, highly invasive testing methods. The need for low-cost, minimally invasive methods to prescreen individuals for cognitive impairment has been a challenge for many years. Today’s costs associated with an annual screen for all adults 65 and above using current methods (CSF, PET) reach well beyond trillions of dollars per year. Motivated by the limited accessibly and high costs, an alternative tool presented within this paper demonstrates an effective rule out screening for Dementia …

Adult Knowledge Of Childhood Head Injury Management At Home, Christian Muller, Adarsh Gupta, Joanna Petrides

Rowan-Virtua Research Day

Adults are able to recognize concussion warning symptoms; however, they lack the knowledge on how to manage and treat a child’s head injury.

Headache And Its Association With Adhd/Add And Stimulant Medication, Claire Nitzsche

Honors Scholar Theses

Years of research has shown that headache (in terms of frequency, duration, and severity) is perpetuated by dysregulation of lifestyle behaviors such as sleep habits, eating habits, level of stress, physical activity etc. Our project aims to explore the potential combined and independent impacts that having ADHD/ADD and taking stimulant drugs have on disrupting one’s lifestyle and examine whether dysregulated lifestyle behaviors contribute to one’s headache experience. No research has investigated how both ADHD/ADD and stimulant drug use effect headache experience. In this cross-sectional study, 177 UConn undergraduate students completed a 10-minute survey regarding lifestyle behaviors and headache experience. Participants …

Association Between Air Pollution And Incidence Of Dementia: A Systematic Review And Meta-Analysis Of Cohort Studies, Ehsan Abolhasani

Electronic Thesis and Dissertation Repository

Objective. To estimate the risk of dementia in association with exposure to air pollutants.

Methods. Six databases were searched. Cohort studies that reported the hazard ratio (HR) of dementia in association with exposure to air pollutants in adults > 40y were included. For all meta-analyses, the random-effects model was used.

Results. A total of 16 and 13 studies were included in the systematic review and the meta-analysis, respectively. Risk of dementia increased by 4% per 1μg/m³ increase in fine particulate matter level (HR, 1.04; 95%CI, [1.02, 1.06]), which was statistically significant. The risk of dementia increased by 3% per 10μg/m …

Aberrant Maturation Of The Uncinate Fasciculus Follows Exposure To Unpredictable Patterns Of Maternal Signals, Steven J. Granger, Laura M. Glynn, Curt A. Sandman, Steven L. Small, Andre Obenaus, David B. Keator, Tallie Z. Baram, Hal S. Stern, Michael A. Yassa, Elyssia Poggi Davis

Psychology Faculty Articles and Research

Across species, unpredictable patterns of maternal behavior are emerging as novel predictors of aberrant cognitive and emotional outcomes later in life. In animal models, exposure to unpredictable patterns of maternal behavior alters brain circuit maturation and cognitive and emotional outcomes. However, whether exposure to such signals in humans alters the development of brain pathways is unknown. In mother–child dyads, we tested the hypothesis that exposure to more unpredictable maternal signals in infancy is associated with aberrant maturation of corticolimbic pathways. We focused on the uncinate fasciculus, the primary fiber bundle connecting the amygdala to the orbitofrontal cortex and a key …

The Association Of Circulating Amylin With Β-Amyloid In Familial Alzheimer's Disease, Han Gia Ly, Nirmal Verma, Savita Sharma, Deepak Kotiya, Sanda Despa, Erin L. Abner, Peter T. Nelson, Gregory A. Jicha, Donna M. Wilcock, Larry B. Goldstein, Rita Guerreiro, José Brás, Angela J. Hanson, Suzanne Craft, Andrew J. Murray, Geert Jan Biessels, Claire Troakes, Henrik Zetterberg, John Hardy, Tammaryn Lashley, Alzheimer’S Disease Exome Sequencing Group, Florin Despa

Pharmacology and Nutritional Sciences Faculty Publications

Introduction

This study assessed the hypothesis that circulating human amylin (amyloid‐forming) cross‐seeds with amyloid beta (Aβ) in early Alzheimer's disease (AD).

Methods

Evidence of amylin‐AD pathology interaction was tested in brains of 31 familial AD mutation carriers and 20 cognitively unaffected individuals, in cerebrospinal fluid (CSF) (98 diseased and 117 control samples) and in genetic databases. For functional testing, we genetically manipulated amylin secretion in APP/PS1 and non‐APP/PS1 rats.

Results

Amylin‐Aβ cross‐seeding was identified in AD brains. High CSF amylin levels were associated with decreased CSF Aβ42 concentrations. AD risk and amylin gene are not correlated. Suppressed amylin secretion protected …

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …

Memory-Related Frontal Brainwaves Predict Transition To Mild Cognitive Impairment In Healthy Older Individuals Five Years Before Diagnosis, Yang Jiang, Juan Li, Frederick A. Schmitt, Gregory A. Jicha, Nancy B. Munro, Xiaopeng Zhao, Charles D. Smith, Richard J. Kryscio, Erin L. Abner

Behavioral Science Faculty Publications

BACKGROUND: Early prognosis of high-risk older adults for amnestic mild cognitive impairment (aMCI), using noninvasive and sensitive neuromarkers, is key for early prevention of Alzheimer's disease. We have developed individualized measures in electrophysiological brain signals during working memory that distinguish patients with aMCI from age-matched cognitively intact older individuals.

OBJECTIVE: Here we test longitudinally the prognosis of the baseline neuromarkers for aMCI risk. We hypothesized that the older individuals diagnosed with incident aMCI already have aMCI-like brain signatures years before diagnosis.

METHODS: Electroencephalogram (EEG) and memory performance were recorded during a working memory task at baseline. The individualized baseline neuromarkers, …

Lifestyle Changes In Covid-19 Pandemic And Impact On Modifiable Stroke Risk Factors, Kelly J. Chan

Family Medicine Clerkship Student Projects

Stroke is one of the leading causes of mortality and disability in the USA. Underlying conditions such as hypertension, diabetes and cardiovascular disease predispose an individual to increased risk of stroke. In addition, the Covid-19 pandemic presents many challenges to these patients in terms of active health management and maintenance. A screening tool was developed to assess patient patterns of lifestyle behavioral changes measured by modifiable risk factors for stroke (medical condition management, diet, exercise, and smoking habits).

The Influence Of Coronavirus Disease-2019 (Covid-19) On Parkinson’S Disease: An Updated Systematic Review, Vikash Jaiswal, Danah Alquraish, Zouina Sarfraz, Azza Sarfraz, Shavy Nagpal, Prakriti Singh Shrestha, Dattatreya Mukherjee, Prathima Guntipalli, Diana F. Sánchez Velazco, Arushee Bhatnagar

Department of Paediatrics and Child Health

Background: COVID-19 has affected global communities with multiple neurological complications in addition to other critical medical issues. COVID-19 binds to the host's angiotensin-converting enzyme 2 (ACE2) receptors, which are expressed in the neurons and glial cells, acting as an entry port to the central nervous system (CNS). ACE2 receptors are abundantly expressed on dopamine neurons, which may worsen the prognosis of motor symptoms in Parkinson's disease (PD). SARS-CoV-2 may lead to an indirect response via immune-mediated cytokine storms and propagate through the CNS leading to damage. In this systematic review, we aim to provide thorough analyses of associations between COVID-19 …