Neurology Commons^™

Developmental Profile Of Filipino Children Born During The Sars-Cov-2 Pandemic: Pilot Study, Angel Belle Dy, Michelle Alexandra Edillon, Mikhaela Francesca Marietta A. Malonzo, Glenda Darlene Garcia, Alane Blythe C. Dy, Clarisse Joyce S. Espiritu, Ma Bianca Carmela Aquino, Shannen Louise T. So, Nina Linly D. Capulong, Rizza Victoria C. Dagal, Lourdes Bernadette Tanchanco

Ateneo School of Medicine and Public Health Publications

Objective

The Philippines experienced one of the longest restriction periods during the COVID-19 pandemic. This study aimed to provide a developmental profile of 18-25 month-old children and identify factors associated with their development during their early years being born and raised during the pandemic.

Methods

The study population was recruited through convenience sampling among families living in proximity to the daycare centers in Cainta, Rizal, Philippines. 116 children qualified to participate and underwent developmental screening using the Early Childhood Care and Development (ECCD) Checklist and their parents were interviewed related to demographic and social factors.

Results

The mean score of …

Addressing Healthcare Disparities Faced By Aging Down Syndrome Populations, Rhea Mistry

Pitzer Senior Theses

Down syndrome (DS) is a chromosomal genetic condition that impacts the development of the body and brain. The life expectancy of individuals with DS has drastically improved over the decades, increasing from 9 years in 1929 to 25 years in 1983 and further reaching 60 years by 2002. Individuals with DS face a variety of prominent co-occurring health conditions that are subject to change over time, including cognitive, visual, and hearing impairments, sleep apnea, cardiovascular defects, Down syndrome regression disorder, and dementia. Despite this increase in life span, DS is still most familiar to pediatric care providers, resulting in healthcare …

Different Cohort, Disparate Results: Selection Bias Is A Key Factor In Autopsy Cohorts, Kathryn Gauthreaux, Walter A. Kukull, Karin B. Nelson, Charles Mock, Yen-Chi Chen, Kwun C. G. Chan, David W. Fardo, Yuriko Katsumata, Erin L. Abner, Peter T. Nelson

Neurology Faculty Publications

INTRODUCTION: Research-oriented autopsy cohorts provide critical insights into dementia pathobiology. However, different studies sometimes report disparate findings, partially because each study has its own recruitment biases. We hypothesized that a straightforward metric, related to the percentage of research volunteers cognitively normal at recruitment, would predict other inter-cohort differences.

METHODS: The National Alzheimer’s Coordinating Center (NACC) provided data on N = 7178 autopsied participants from 28 individual research centers. Research cohorts were grouped based on the proportion of participants with normal cognition at initial clinical visit.

RESULTS: Cohorts with more participants who were cognitively normal at recruitment contained more individuals who …

Circulating Sphingolipids In Relation To Cognitive Decline And Incident Dementia: The Cardiovascular Health Study, Kristine F Moseholm, Héléne T Cronjé, Manja Koch, Annette L Fitzpatrick, Oscar L Lopez, Marcia C De Oliveira Otto, W T Longstreth, Andrew N Hoofnagle, Kenneth J Mukamal, Rozenn N Lemaitre, Majken K Jensen

Faculty, Staff and Student Publications

INTRODUCTION: Whether circulating levels of sphingolipids are prospectively associated with cognitive decline and dementia risk is uncertain.

METHODS: We measured 14 sphingolipid species in plasma samples from 4488 participants (mean age 76.2 years; 40% male; and 25% apolipoprotein E (

RESULTS: Higher plasma levels of sphingomyelin-d18:1/16:0 (SM-16) were associated with a faster cognitive decline measured with 3MSE, in contrast, higher levels of sphingomyelin-d18:1/22:0 (SM-22) were associated with slower decline in cognition measured with DSST. In Cox regression, higher levels of SM-16 (hazard ration [HR] = 1.24 [95% confidence interval [CI]: 1.08-1.44]) and ceramide-d18:1/16:0 (Cer-16) (HR = 1.26 [95% CI: 1.10-1.45]) …

Higher Baseline Serum Bilirubin Levels Are Associated With Increased Risk Of Early Neurological Deterioration In Women With Acute Ischemic Stroke, Meng Sun, Yingfeng Weng, Jiwei Cheng, Guoyi Li, Qian Xiao

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: Early neurological deterioration (END) occurs in up to one-third of patients with acute ischemic stroke (AIS) and associated with poor outcome. The role of serum bilirubin in END remains controversial. This study aims to investigate the association of total bilirubin (TBIL), direct bilirubin (DBIL) and indirect bilirubin (IBIL) with END.

METHODS: This study was a cross-sectional retrospective study with 344 AIS patients enrolled. We retrospectively reviewed consecutive AIS patients with END through a medical record retrieval system and enrolled patients as control randomly from the AIS patients without END at the same period. The bilirubin levels were …

Prevalence And Patterns Of Cardiovascular Risk Factors In Young Hypertensive Patients, *Raghu V S R Tanuku Dr., Major Venkata Shree Krishna Dr., Sreedhar Tanuku Dr

Digital Journal of Clinical Medicine

Hypertension ranks among the top ten causes of mortality, with around 4% attributed to hypertensive complications. High salt intake, Type 2 diabetes, smoking, elevated serum lipids, a sedentary lifestyle, a diet heavy in saturated fat, genetic predisposition, as well as stress are among the factors that contribute to hypertension. Hypertension affects about 1 billion people worldwide, with considerable differences between populations and ethnic groups [2]. The Framingham Heart Study indicates that a person's lifetime risk of developing hypertension is 90% if they are normotensive at age 55. According to the NHANES IV (4th National Health and Nutrition Examination Survey), the …

Assessing Laryngectomy Patient Education On Youtube: Investigating Quality And Reliability, Matthew E Lin, Oluwatobiloba Ayo-Ajibola, Carlos X Castellanos, Jonathan West, Neil Luu, Ian Kim, Niels C Kokot

Faculty, Staff and Student Publications

OBJECTIVE: This study aimed to characterize the quality of laryngectomy-related patient education on YouTube and understand factors impacting video content quality.

STUDY DESIGN: Cross-sectional cohort analysis.

SETTING: Laryngectomy-related videos on YouTube.

METHODS: YouTube was anonymously queried for various laryngectomy procedure search terms. Video quality was evaluated using the validated DISCERN instrument which assesses treatment-related information quality. Descriptive statistics were used to characterize our cohort. Univariate and multivariable linear regression were used to assess factors associated with increased DISCERN score. Significance was set at

RESULTS: Our 78-video cohort exhibited moderate levels of engagement, averaging 13,028.40 views (SD = 24,246.93), 69.79 likes …

Synergistic Effects Of Β-Nafeo2 Ferrite Nanoparticles For Photocatalytic Degradation, Antibacterial, And Antioxidant Applications†, Forsad Al Hossain, M Tanjid Hasan Tonmoy, Sri Nuvvula, Brittany P Chapman, Rajesh K Gupta, Andrew A Lover, Rhoel R Dinglasan, Stephanie Carreiro, Tauhidur Rahman

Faculty, Staff and Student Publications

Syndromic surveillance is an effective tool for enabling the timely detection of infectious disease outbreaks and facilitating the implementation of effective mitigation strategies by public health authorities. While various information sources are currently utilized to collect syndromic signal data for analysis, the aggregated measurement of cough, an important symptom for many illnesses, is not widely employed as a syndromic signal. With recent advancements in ubiquitous sensing technologies, it becomes feasible to continuously measure population-level cough incidence in a contactless, unobtrusive, and automated manner. In this work, we demonstrate the utility of monitoring aggregated cough count as a syndromic indicator to …

The Uprmt Preserves Mitochondrial Import To Extend Lifespan, Jolaade Kalinowski, Elizabeth A Hintz, Chigozirim Izeogu

Faculty, Staff and Student Publications

The SARS-CoV-2 (COVID-19) pandemic introduced many challenges and nuances that have transformed medical practice and research. The uncertainty caused by COVID-19 led to inevitable challenges to patient-provider relationships. The ever-changing landscape of COVID-19 research and policy proved to be challenging for the medical community and patients. These challenges also exacerbated long-standing issues regarding patient-provider communication and trust. On the other hand, these challenges gave voice to a burgeoning patient advocacy community. Through social media, advocacy and patient organizing, patients harnessed their power and organized over challenges relating to COVID-19 fears and concerns, ramifications of "Long COVID," and much more. During …

Association Of Circulating Ketone Bodies With Cognitive Performance And Dementia In The Multi-Ethnic Study Of Atherosclerosis (Mesa), Parag Anilkumar Chevli, Christopher L Schaich, Alexis C Wood, Luqman A Tk, Anurag Mehta, Vardhmaan Jain, Margery Connelly, Suzanne Craft, Elad Shemesh, José A Luchsinger, Kathleen M Hayden, Bonnie Colleen Sachs, Timothy M Hughes, Michael D Shapiro

Faculty, Staff and Students Publications

Introduction

Growing interest centers on the association between circulating ketone bodies (KB) and cognitive function, notably in aging and neurodegenerative diseases.

Methods

Associations of plasma KB with incident dementia and cognitive performances were examined among Multi‐Ethnic Study of Atherosclerosis (MESA) participants. KB were measured using plasma samples collected following an overnight fasting at Exam 1 (2000–02) and detailed cognitive testing at Exam 5 (2010–2012, N = 4392), Exam 6 (2016–2018, N = 1838), and in MESA‐MIND (2019–2021, N = 2060).

Results

Over 16.7 years, a doubling of total KB was associated with a greater risk of incident dementia (hazard ratio …

Para-Infectious Brain Injury In Covid-19 Persists At Follow-Up Despite Attenuated Cytokine And Autoantibody Responses, Benedict D Michael, Cordelia Dunai, Edward J Needham, Kukatharmini Tharmaratnam, Robyn Williams, Yun Huang, Sarah A Boardman, Jordan J Clark, Parul Sharma, Krishanthi Subramaniam, Greta K Wood, Ceryce Collie, Richard Digby, Alexander Ren, Emma Norton, Maya Leibowitz, Soraya Ebrahimi, Andrew Fower, Hannah Fox, Esteban Tato, Mark A Ellul, Geraint Sunderland, Marie Held, Claire Hetherington, Franklyn N Egbe, Alish Palmos, Kathy Stirrups, Alexander Grundmann, Anne-Cecile Chiollaz, Jean-Charles Sanchez, James P Stewart, Michael Griffiths, Tom Solomon, Gerome Breen, Alasdair J Coles, Nathalie Kingston, John R Bradley, Patrick F Chinnery, Jonathan Cavanagh, Sarosh R Irani, Angela Vincent, J Kenneth Baillie, Peter J Openshaw, Malcolm G Semple, Covid-Cns Consortium, Isaric4c Investigators, Leonie S Taams, David K Menon

Faculty, Staff and Student Publications

To understand neurological complications of COVID-19 better both acutely and for recovery, we measured markers of brain injury, inflammatory mediators, and autoantibodies in 203 hospitalised participants; 111 with acute sera (1-11 days post-admission) and 92 convalescent sera (56 with COVID-19-associated neurological diagnoses). Here we show that compared to 60 uninfected controls, tTau, GFAP, NfL, and UCH-L1 are increased with COVID-19 infection at acute timepoints and NfL and GFAP are significantly higher in participants with neurological complications. Inflammatory mediators (IL-6, IL-12p40, HGF, M-CSF, CCL2, and IL-1RA) are associated with both altered consciousness and markers of brain injury. Autoantibodies are more common …

Capacity Assessment And Spatial Analysis Of Cervical Cancer Services In The Gambia, Meghan E Mali, Ousman Sanyang, Katherine L Harris, Justin Sorensen, Mustapha Bittaye, Jonathan Nellermoe, Raymond R Price, Edward K Sutherland

Faculty, Staff and Student Publications

Background

Cervical cancer is the most common cancer and the leading cause of cancer-related death in Gambian women. The Gambian Ministry of Health is striving to improve access to screening, diagnostic, and treatment services for cervical cancer, but comprehensive data on currently available services is limited making it challenging to appropriately prioritize the ideal next steps for expanding care. This study aims to describe the current services available for the prevention, screening, and treatment of cervical cancer in The Gambia and provide suggestions for expanding geographic access to care.

Methods

A survey aimed at assessing the availability of key cervical …

Use Of Term Reference Infants In Assessing The Developmental Outcome Of Extremely Preterm Infants: Lessons Learned In A Multicenter Study, Charles E Green, Jon E Tyson, Roy J Heyne, Susan R Hintz, Betty R Vohr, Carla M Bann, Abhik Das, Edward F Bell, Sana Boral Debsareea, Emily Stephens, Marie G Gantz, Carolyn M Petrie Huitema, Karen J Johnson, Kristi L Watterberg, Ricardo Mosquera, Myriam Peralta-Carcelen, Deanne E Wilson-Costello, Tarah T Colaizy, Nathalie L Maitre, Stephanie L Merhar, Ira Adams-Chapman, Janell Fuller, Michelle E Hartley-Mcandrew, William F Malcolm, Sarah Winter, Andrea F Duncan, Gary J Myer, Stephen D Kicklighter, Myra H Wyckoff, Sara B Demauro, Anna Maria Hibbs, Barbara J Stoll, Waldemar A Carlo, Krisa P Van Meurs, Matthew A Rysavy, Ravi M Patel, Pablo J Sánchez, Abbot R Laptook, C Michael Cotten, Carl T D'Angio, Michele C Walsh, Human Development Neonatal Research Network

Faculty, Staff and Student Publications

OBJECTIVE: Extremely preterm (EP) impairment rates are likely underestimated using the Bayley III norm-based thresholds scores and may be better assessed relative to concurrent healthy term reference (TR) infants born in the same hospital.

STUDY DESIGN: Blinded, certified examiners in the Neonatal Research Network (NRN) evaluated EP survivors and a sample of healthy TR infants recruited near the 2-year assessment age.

RESULTS: We assessed 1452 EP infants and 183 TR infants. TR-based thresholds showed higher overall EP impairment than Bayley norm-based thresholds (O.R. = 1.86; [95% CI 1.56-2.23], especially for severe impairment (36% vs. 24%; p ≤ 0.001). Difficulty recruiting …

Early Resveratrol Treatment Mitigates Joint Degeneration And Dampens Pain In A Mouse Model Of Pseudoachondroplasia (Psach), Jacqueline T Hecht, Alka C Veerisetty, Debabrata Patra, Mohammad G Hossain, Frankie Chiu, Claire Mobed, Francis H Gannon, Karen L Posey

Faculty, Staff and Student Publications

Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in cartilage oligomeric matrix protein (COMP). The mechanisms underlying the mutant-COMP pathology have been defined using the MT-COMP mouse model of PSACH that has the common D469del mutation. Mutant-COMP protein does not fold properly, and it is retained in the rough endoplasmic reticulum (rER) of chondrocytes rather than being exported to the extracellular matrix (ECM), driving ER stress that stimulates oxidative stress and inflammation, driving a self-perpetuating cycle. CHOP (ER stress signaling protein) and TNFα inflammation drive high levels of mTORC1 …

Top Caregiver Concerns In Rett Syndrome And Related Disorders: Data From The Us Natural History Study, Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U Peters, Alan K Percy

Faculty, Staff and Students Publications

OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders.

METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) …

Comparing Stroke Symptom Recognition And Intervention Times In The Rio Grande Valley, Joshua M. Ninan, Kelsey Baker

Research Symposium

This is a retrospective study that aims to evaluate the duration from onset of stroke-like symptoms to presentation to medical facilities for aid in the Rio Grande Valley. The main goal of the study is to understand the extent of pre-hospital delays with regards to the treatment of stroke in the RGV.

Bisphenol-A And Phthalate Metabolism In Children With Neurodevelopmental Disorders, T Peter Stein, Margaret D Schluter, Robert A Steer, Xue Ming

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: The etiology of autism spectrum (ASD) and Attention Deficit/Hyperactivity (ADHD) disorders are multifactorial. Epidemiological studies have shown associations with environmental pollutants, such as plasticizers. This study focused on two of these compounds, the Bisphenol-A (BPA) and Diethylhexyl Phthalate (DEHP). The major pathway for BPA and DEHP excretion is via glucuronidation. Glucuronidation makes insoluble substances more water-soluble allowing for their subsequent elimination in urine.

HYPOTHESIS: Detoxification of these two plasticizers is compromised in children with ASD and ADHD. Consequently, their tissues are more exposed to these two plasticizers.

METHODS: We measured the efficiency of glucuronidation in three groups of children, …

A Polygenic Risk Score For Alzheimer’S Disease Constructed Using Apoe-Region Variants Has Stronger Association Than Apoe Alleles With Mild Cognitive Impairment In Hispanic/Latino Adults In The Us, Tamar Sofer, Nuzulul Kurniansyah, Einat Granot-Hershkovitz, Matthew O Goodman, Wassim Tarraf, Iris Broce, Richard B Lipton, Martha Daviglus, Melissa Lamar, Sylvia Wassertheil-Smoller, Jianwen Cai, Charles S Decarli, Hector M Gonzalez, Myriam Fornage

Faculty, Staff and Student Publications

INTRODUCTION: Polygenic Risk Scores (PRSs) are summaries of genetic risk alleles for an outcome.

METHODS: We used summary statistics from five GWASs of AD to construct PRSs in 4,189 diverse Hispanics/Latinos (mean age 63 years) from the Study of Latinos-Investigation of Neurocognitive Aging (SOL-INCA). We assessed the PRS associations with MCI in the combined set of people and in diverse subgroups, and when including and excluding the APOE gene region. We also assessed PRS associations with MCI in an independent dataset from the Mass General Brigham Biobank.

RESULTS: A simple sum of 5 PRSs ("PRSsum"), each constructed based on a …

Neurotoxicity And Outcomes From Developmental Lead Exposure: Persistent Or Permanent?, Jay S. Schneider

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Background:

Childhood lead poisoning remains an important public health issue in the United States, as well as elsewhere in the world. Although primary prevention is a major goal and it is critically important to keep children from getting poisoned, it is also important to explore ways to reduce the neurotoxic effects of lead in those children already poisoned. Whether lead-induced neurotoxicity and its related adverse outcomes are viewed as “permanent” or “persistent” may influence the way in which potential remediation efforts are considered for improving outcomes from childhood lead poisoning.

Objectives:

The objective of this commentary was to discuss the …

Do Vaccinations Influence The Development Of Alzheimer Disease?, Avram S Bukhbinder, Yaobin Ling, Kristofer Harris, Xiaoqian Jiang, Paul E Schulz

Faculty, Staff and Student Publications

A growing literature supports a protective association between vaccines targeting an array of pathogens (e.g., influenza, pneumococcus, herpes zoster) and the risk of Alzheimer disease (AD). This article discusses the potential underlying mechanisms for this apparent protective effect of immunizations against infectious pathogens on the risk of AD; explores the basic and pharmacoepidemiologic evidence for this association, with particular attention paid to important methodological variations among the epidemiologic studies; and reviews the remaining uncertainties regarding the effects of anti-pathogen vaccines on Alzheimer disease and all-cause dementia, with recommendations for future directions to address those uncertainties.

Efficacy And Safety Of Elamipretide In Individuals With Primary Mitochondrial Myopathy: The Mmpower-3 Randomized Clinical Trial, Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelango Mancuso, Mmpower-3 Trial Investigators

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: Primary mitochondrial myopathies (PMMs) encompass a group of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting physical function, exercise capacity, and quality of life (QoL). Current PMM standards of care address symptoms, with limited clinical impact, constituting a significant therapeutic unmet need. We present data from MMPOWER-3, a pivotal, phase-3, randomized, double-blind, placebo-controlled clinical trial that evaluated the efficacy and safety of elamipretide in participants with genetically confirmed PMM.

METHODS: After screening, eligible participants were randomized 1:1 to receive either 24 weeks of elamipretide at a dose of 40 mg/d or placebo subcutaneously. Primary efficacy endpoints …

Effect Of Reduced Versus Usual Lipid Emulsion Dosing On Bilirubin Neurotoxicity And Neurodevelopmental Impairment In Extremely Preterm Infants: Study Protocol For A Randomized Controlled Trial, Lindsay F Holzapfel, Cody Arnold, Jon E Tyson, Steven M Shapiro, Eric W Reynolds, Claudia Pedroza, Emily K Stephens, Alan Kleinfeld, Andrew H Huber, Matthew A Rysavy, Maria Del Mar Romero Lopez, Amir M Khan

Faculty, Staff and Student Publications

BACKGROUND: Bilirubin neurotoxicity (BN) occurs in premature infants at lower total serum bilirubin levels than term infants and causes neurodevelopmental impairment. Usual dose lipid infusions in preterm infants may increase free fatty acids sufficiently to cause bilirubin displacement from albumin, increasing passage of unbound bilirubin (UB) into the brain leading to BN and neurodevelopmental impairment not reliably identifiable in infancy. These risks may be influenced by whether cycled or continuous phototherapy is used to control bilirubin levels.

OBJECTIVE: To assess differences in wave V latency measured by brainstem auditory evoked responses (BAER) at 34-36 weeks gestational age in infants born …

The Correlation Between Traumatic Brain Injury And Incarceration Among Adult Males In The United States, Shadi Shams

Rowan-Virtua Research Day

The United States has one of the largest growing prison populations in the world. A large amount of social and economic resources go towards the cost and maintenance of correctional facilities each year. Additionally, the current correctional programs are insufficient in assisting inmates with getting back to society; especially those with traumatic brain injury (TBI) who often remain undiagnosed and are usually treated unfairly in the prison system instead of receiving the appropriate help. Prior scholarly work has shown that patients in the post-TBI stage are more likely to enter the judicial system. In the recent population-based cohort study, the …

Association Of Mitochondrial Dna Copy Number With Brain Mri Markers And Cognitive Function: A Meta-Analysis Of Community-Based Cohorts, Yuankai Zhang, Xue Liu, Kerri L Wiggins, Nuzulul Kurniansyah, Xiuqing Guo, Amanda L Rodrigue, Wei Zhao, Lisa R Yanek, Scott M Ratliff, Achilleas Pitsillides, Juan Sebastian Aguirre Patiño, Tamar Sofer, Dan E Arking, Thomas R Austin, Alexa S Beiser, John Blangero, Eric Boerwinkle, Jan Bressler, Joanne E Curran, Lifang Hou, Timothy M Hughes, Sharon L R Kardia, Lenore J Launer, Daniel Levy, Thomas H Mosley, Ilya M Nasrallah, Stephen S Rich, Jerome I Rotter, Sudha Seshadri, Wassim Tarraf, Kevin A González, Vasan Ramachandran, Kristine Yaffe, Paul A Nyquist, Bruce M Psaty, Charles S Decarli, Jennifer A Smith, David C Glahn, Hector M González, Joshua C Bis, Myriam Fornage, Susan R Heckbert, Annette L Fitzpatrick, Chunyu Liu, Claudia L Satizabal

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: Previous studies suggest that lower mitochondrial DNA (mtDNA) copy number (CN) is associated with neurodegenerative diseases. However, whether mtDNA CN in whole blood is related to endophenotypes of Alzheimer disease (AD) and AD-related dementia (AD/ADRD) needs further investigation. We assessed the association of mtDNA CN with cognitive function and MRI measures in community-based samples of middle-aged to older adults.

METHODS: We included dementia-free participants from 9 diverse community-based cohorts with whole-genome sequencing in the Trans-Omics for Precision Medicine (TOPMed) program. Circulating mtDNA CN was estimated as twice the ratio of the average coverage of mtDNA to nuclear …

Covid19-Associated New-Onset Movement Disorders: A Follow-Up Study, Susanne A Schneider, Soaham Desai, Onanong Phokaewvarangkul, Elena Cecilia Rosca, Jirada Sringean, Pria Anand, Gary Álvarez Bravo, Francisco Cardoso, Anna M Cervantes-Arslanian, Harshad Chovatiya, David Crosiers, Femke Dijkstra, Conor Fearon, Francisco Grandas, Eric Guedj, Antonio Méndez-Guerrero, Muhammad Hassan, Joseph Jankovic, Anthony E Lang, Karim Makhoul, Lorenzo Muccioli, Sarah A O'Shea, Vahid Reza Ostovan, Javier Ricardo Perez-Sanchez, Ritesh Ramdhani, Victoria Ros-Castelló, Christina Schulte, Priyank Shah, Lars Wojtecki, Pramod Kumar Pal

Faculty, Staff and Students Publications

BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited.

METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed.

RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 66.8 years) the movement disorder (ataxia, myoclonus, tremor, parkinsonism) was still present after a follow-up …

Refugees Living With Dementia: Assessing The Barriers To Healthcare Access In Crisis-Affected Populations In Lebanon And Switzerland, And The Role Humanitarian Actors Have On Addressing Them, Pedro Gomez

Independent Study Project (ISP) Collection

As life expectancies increase in many places around the world, the prevalence of aging populations has increased. Consequently, increased numbers of people globally, especially in developing countries, have been diagnosed with conditions associated with old age. Dementia, a group of conditions associated with impaired cognitive functions, is among these. Notwithstanding, many developing countries have done poorly with regards to diagnosing and treating dementia, with some cultures not even having a word to describe the condition. (ADI 2022). The lack of a diagnosis and knowledge about dementia for some refugee communities has led to healthcare challenges in their host countries (Corfield …

Ad-Syn-Net: Systematic Identification Of Alzheimer's Disease-Associated Mutation And Co-Mutation Vulnerabilities Via Deep Learning, Xingxin Pan, Zeynep H Coban Akdemir, Ruixuan Gao, Xiaoqian Jiang, Gloria M Sheynkman, Erxi Wu, Jason H Huang, Nidhi Sahni, S Stephen Yi

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is one of the most challenging neurodegenerative diseases because of its complicated and progressive mechanisms, and multiple risk factors. Increasing research evidence demonstrates that genetics may be a key factor responsible for the occurrence of the disease. Although previous reports identified quite a few AD-associated genes, they were mostly limited owing to patient sample size and selection bias. There is a lack of comprehensive research aimed to identify AD-associated risk mutations systematically. to address this challenge, we hereby construct a large-scale AD mutation and co-mutation framework ('AD-Syn-Net'), and propose deep learning models named Deep-SMCI and Deep-CMCI configured …

A National, Electronic Health Record-Based Study Of Perinatal Hemorrhagic And Ischemic Stroke, Stuart Fraser, Samantha M Levy, Yashar Talebi, Sean I Savitz, Alicia Zha, Gen Zhu, Hulin Wu

Faculty, Staff and Student Publications

BACKGROUND: Perinatal stroke occurs in approximately 1 in 1100 live births. Large electronic health record (EHR) data can provide information on exposures associated with perinatal stroke in a larger number of patients than is achievable through traditional clinical studies. The objective of this study is to assess prevalence and odds ratios of known and theorized comorbidities with perinatal ischemic and hemorrhagic stroke.

METHODS: The data for patients aged 0-28 days with a diagnosis of either ischemic or hemorrhagic stroke were extracted from the Cerner Health Facts Electronic Medical Record (EMR) database. Incidence of birth demographics and perinatal complications were recorded. …

Covid-19 Induced Environments, Health-Related Quality Of Life Outcomes And Problematic Behaviors: Evidence From Children With Syndromic Autism Spectrum Disorders, Corneliu Bolbocean, Kayla B Rhidenour, Maria Mccormack, Bernhard Suter, J Lloyd Holder

Faculty, Staff and Students Publications

Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver's mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might …

Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.

Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).

Results: Karyotype was …