Neurology Commons^™

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin

Duncan NRI Faculty and Staff Publications

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Correction To: A Double‑Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono

Department of Neurology Faculty Papers

No abstract provided.

Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction In Multiethnic Cohorts, Meri Okorie, Caroline Jonson, Alexis Oddi, Patricia Castruita, Brian Fulton-Howard, Kristine Yaffe, Jennifer Yokoyama, Chinedu Momoh, Shea Andrews

Brain and Mind Institute

INTRODUCTION Genome-wide association studies (GWAS) have identified 80+ genetic loci associated with Alzheimer's disease (AD), enabling the development of polygenic risk scores (PRS). However, the predictive accuracy of PRS in diverse populations remains low. Here, we evaluated the predictive accuracy of single-, multi-, and cross-ancestry AD-PRS models across multi-ancestral populations.

METHODS We used AD GWAS summary statistics from European, African, Admixed American, and East Asian populations to construct AD-PRS for each target population. Model performance was assessed by estimating odds ratios, R2, and area under the curve.

RESULTS The cross-ancestry Bayesian PRS model demonstrated the highest predictive performance in non-European …

Cerebrovascular Risk With Calcitonin Gene-Related Peptide Monoclonal Antibodies Versus Onabotulinumtoxina In Patients With Migraine: A Real-World Pharmacoepidemiologic Study In The National Institutes Of Health All Of Us Research Program, Sedat Gül, Bradley Ong, Stephen Trudeau, Nicolas Thompson, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

AimTo evaluate whether initiation of calcitonin gene-related peptide (CGRP) monoclonal antibodies (mAbs) was non-inferior to initiation of onabotulinumtoxinA with respect to the hazard of ischemic stroke or transient ischemic attack (IS + TIA) in a real-world cohort of adults with migraine.MethodsWe conducted a retrospective, active-comparator, new-user pharmacoepidemiology study using the NIH All of Us Research Program Registered Tier Dataset (v8). Adults with migraine initiating CGRP mAbs (erenumab, fremanezumab, galcanezumab, eptinezumab) were compared with initiators of onabotulinumtoxinA from January 2018 through September 2023. The primary outcome was IS + TIA occurring more than 90 days after treatment initiation. Inverse probability of …

Long-Term Outcomes And Symptom Response Following Hypofractionated Stereotactic Radiotherapy For Intracranial Meningioma, Ryan Shah, Bs, Nilanjan Haldar, Shray Jain, Lauren Holt, Sophia Shah, Hamail Iqbal, Anthony Chen, Christopher J. Farrell, Debanjan Haldar, James J. Evans, Gregory S. Alexander, Wenyin Shi

Department of Neurology Faculty Papers

Objective: Various radiation dosing regimens exist due to tumor size, location, and patient preference. This study evaluated the long-term outcomes of patients with benign meningiomas treated with hypofractionated stereotactic radiotherapy (SRT)at our institution.

Methods: This is a retrospective review of all patients diagnosed with meningioma at our institution who received hypofractionated SRT (5 fractions). Clinical data, including tumor location, size, prior treatments, demographics, radiation dosimetric information, tumor response, and survival were collected. Kaplan-Meier curves were used to assess local control (LC). Acute and late toxicities were evaluated. Patients were included for analysis if they had at least one post-treatment magnetic …

New-Onset Cognitive Impairment After Delirium Among Hospitalised Older Ghanaians: A Pilot Study, John-Paul Omuojine, Richard Dei-Asamoa, Caleb Otu-Ansah, Gertrude Aboah, Belinda Opoku, George Amponsah, Stella Afeti, Leah Ratner, Ruth Owusu-Antwi, Cyprian Mostert

Population Health, East Africa

Background Delirium is a potentially modifiable risk factor for dementia. However, post-delirium cognition has hardly been studied in Africa, where the burden of both disorders is rising disproportionately.

Objective We estimated the incidence of new-onset cognitive impairment (NCI) 6 months after hospitalisation with non-stroke delirium among older Ghanaians.

Methods This was a prospective observational pilot study conducted among 60 previously cognitively unimpaired (retrospective proxy assessment) adults aged ≥60 years, hospitalised with non-stroke prevalent delirium in a Tertiary Hospital. Delirium was confirmed and rated using the Confusion Assessment Method (CAM) and Severity Scale (CAM-S) within 24–72 hours of admission and reassessed …

Formal Comment: Diagnostic Labelling Of Mental Health In Young People: Perspectives From Kenya, South Africa And Zimbabwe, Rachel Maina, Marinos Lupindo, Charmaine Nyakonda, Tara Carney, Charity Mamathuba, Christine Musyimi, Charity Somo, Eleanor Chatburn

Brain and Mind Institute

No abstract provided.

Plasma Proteomic Profiles Of Alzheimer's Disease And Neurodegeneration In African Cohorts, Ilaria Pola, Tolulope Akinyemi, Kubra Tan, Oladotun Olalusi, Wiebke Traichel, Giulia Giacomucci, Joseph Yaria, Nesrine Rahmouni, Gabriel Ogunde, Chinedu Momoh

Brain and Mind Institute

Alzheimer’s disease and related dementia (ADRD) represents a growing public health burden, especially in low- and middle-income countries. Yet, most studies focus on Non-Hispanic white (NHW) populations from high-income countries. This study investigates plasma proteomic signatures associated with amyloid pathology in African populations. Nigerian older adults from the VALIANT study and participants from a Tanzanian study, with available biomarker quantification in plasma are employed. For proteomic comparison, participants from the Canadian TRIAD cohort are included, capturing a distinct population. Here, we show that multiple proteins are differentially abundant in the plasma of p-tau217-positive individuals and in the different cognitive groups, …

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni Boltz, Benjamin Chu, Matthew Defelice, Calwing Liao, Julia Sealock, Robert Ye, Jacqueline Goldstein, Lerato Majara, Jack Fu, Lukoye Atwoli

Internal Medicine, East Africa

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Stroke Smarts: Enhancing Nursing Knowledge And Confidence In Acute Care: Evidence-Based Practice Project, Eworth Charles Meighan

Loma Linda University Electronic Theses, Dissertations & Projects

Introduction/Aims

This project evaluated the effectiveness of targeted stroke re-education in improving nursing staff knowledge and confidence in stroke recognition and documentation in the inpatient setting. The project aims to improve early identification and documentation of suspected stroke symptoms to support time-sensitive diagnostic imaging and treatment, and to evaluate nurses' self-perceived general knowledge of acute stroke assessment and hyperacute stroke management.

Methods

10-20 active nursing staff (ages 22-50+) assigned to Unit 11A were identified at the Loma Linda University Medical Center Cardiac and Medical Progressive floor in May 2026. All voluntary participants completed the nursing demographic survey and the pre-intervention …

Ai-Segmented Upper Airway Imaging Biomarkers Across The Lifespan, David L. Holt, Vishwa S. Parekh

Summer Research Program Abstracts

No abstract provided.

Antibiotic Administration After Previable Preterm Prelabor Rupture Of Membranes Is Associated With Prolonged Latency, Alexandra L Hammerquist, Alexander M Saucedo, Selina L Bowler, Mohan Pammi, Catherine Eppes, Ignatia Van Den Veyver, Michael D Jochum, Enrico R Barrozo

Duncan NRI Faculty and Staff Publications

Introduction: While antibiotics have been shown to increase the interval to delivery between rupture of membranes and delivery (latency) and improve neonatal outcomes after viable preterm prelabor rupture of membranes (PPROM), this has not been well investigated in the previable PPROM population. We aimed to investigate the association between antenatal antibiotics and latency following previable PPROM. Secondarily, we examined various maternal and neonatal outcomes. We hypothesized that the administration of antibiotics would prolong latency in pregnancies with previable PPROM.

Methods: Single-center retrospective cohort study that included pregnancies diagnosed with previable PPROM between 140/7 and 216/7 and delivered between 2012 and …

Endovascular Thrombectomy In Medium And Distal Vessel Occlusions: A Focused Guideline From The Society Of Vascular And Interventional Neurology Guidelines And Practice Standards Committee, Shahram Majidi, Amol Mehta, Sami Al-Kasab, Kaustubh Limaye, Adam A. Dmytriw, Adam De Havenon, Farhan Siddiq, Robin Novakovic, Alexandra L. Czap, Ameer E. Hassan

School of Medicine Publications

Background: The authors present an overview of the current evidence and management recommendations for evaluation and treatment of adults with acute ischemic stroke from distal- and medium-vessel occlusion (DMVO) for endovascular thrombectomy (EVT). The intended audiences are prehospital care providers, physicians, and allied health professionals.

Methods: The Society of Vascular and Interventional Neurology Guidelines and Practice Standards committee formed a writing group to conduct a structured literature review on EVT for DMVO-related acute ischemic stroke and to draft practice recommendations in accordance with the Society of Vascular and Interventional Neurology Guidelines and Practice Algorithm. A structured literature search was conducted …

The Effect Of The Lee Silverman Voice Treatment (Lsvt) Big Method Based On Occupation On Older Adult Functional Mobility Balance, Muhammad Luthfi, Kharisma Nur Idalasari

Jurnal Fisioterapi Terapan Indonesia

Balance impairment is one of the major problems commonly experienced by older adults as a result of degenerative processes, leading to an increased risk of falls. Falls may cause fear of recurrent falling, reduced physical activity, loss of physical capability, and may eventually result in disability and psychological consequences such as depression. Structured, occupation-based physical activity has been shown to provide various benefits for older adults, including improving physical function, slowing functional decline associated with degenerative processes, reducing fall risk, and enhancing postural control. This study aimed to analyze the effect of the occupation-based Lee Silverman Voice Treatment (LSVT) BIG …

Objective Biomarker Development For Parameter Optimization In Neuromodulation Using High-Density Emg Temporal And Spatial Features, Shirin Madarshahian, Nikoo Javadpour, Michael Trakhtorchuck, Tatiana Guerrero-David, Kristin Gustafson, James Harrop, Caio Matias, M. J. Mulcahey, Alessandro Naopli, Alex R. Vaccaro, Mijail Serruya

Farber Institute for Neuroscience Faculty Papers

Transcutaneous spinal cord stimulation (tSCS) is a promising neuromodulation approach for motor recovery after spinal cord injury (SCI), yet clinical programming remains largely dependent on subjective parameter selection. This study evaluated high-density surface EMG (HD-sEMG)–derived spatial and temporal features as objective biomarkers for tSCS optimization in three adults with chronic cervical SCI. A 64-channel electrode array recorded stimulation-evoked responses across five cervical stimulation levels, four pulse widths, and graded amplitudes. Features describing activation magnitude, spatial distribution, cluster morphology, and temporal dynamics were extracted from epoch-based activation maps. Of the three enrolled participants, two demonstrated measurable stimulation-evoked responses and contributed to …

Pengaruh Rehabilitasi Berbantuan Robot Terhadap Pemulihan Fungsional Setelah Total Hip Arthroplasty: Literature Review, Dian Rahayu Wijayanti, Kholida Nabila, Nadzifa Salsabila Haris Putri, Nur Afrina Azra, Septina Olivia, Farid Rahman

Jurnal Fisioterapi Terapan Indonesia

Total Hip Arthroplasty (THA) remains a gold standard for restoring joint function in patients with severe hip osteoarthritis, yet achieving optimal functional recovery post-surgery remains a challenge. Robot-assisted rehabilitation (RAR) has emerged as a novel physiotherapy modality offering structured, repetitive, and sensor-driven training that may enhance recovery trajectories. Objective: This literature review aims to identify and synthesise current evidence on the effectiveness of RAR in improving functional outcomes after THA, focusing on gait performance, muscle strength, balance, and quality of life. Methods: A comprehensive search of PubMed, PEDro, ScienceDirect and Google Scholar was conducted for peer-reviewed articles published between 2015 …

Community-Based Exercise Programs Dalam Mengurangi Fear Of Falling Dan Meningkatkan Quality Of Life Pada Lansia: A Systematic Literature Review, Amirah Hasna Rafifah -, Hanif Maulana, Saffanah

Jurnal Fisioterapi Terapan Indonesia

The global increase in the elderly population presents significant challenges in maintaining independence and quality of life among older adults. One of the most common problems experienced by the elderly is fear of falling, which negatively affects physical activity, balance, and psychological well-being. Community-based exercise programs represent an approach that not only improves physical function but also strengthens social interaction and self-confidence among older adults. This study aims to review community-based exercise programs in reducing fear of falling and improving quality of life among the elderly through a Systematic Literature Review (SLR) using the PRISMA 2020 guidelines. The literature …

Hp1bp3 Loss Links Chromatin Reorganization To Metabolic Vulnerability In Glioma, Brittney Lozzi, Taylor A Gatesman, Pushan Dasgupta, Debosmita Sardar, Yeunjung Ko, Chenyu Mao, Hsiao-Chi Chen, Rachel N Curry, Dongjoo Choi, Carrie A Mohila, Melissa L Bondy, Ganesh Rao, Marco Gallo, Sameer Agnihotri, Benjamin Deneen

Duncan NRI Faculty and Staff Publications

High-grade gliomas (HGGs) are aggressive brain tumors with poor prognosis, driven in part by metabolic and epigenetic adaptations. Methionine metabolism supports HGG growth by supplying S-adenosylmethionine for methylation reactions, yet how nutrient availability influences chromatin organization in HGG remains incompletely understood. Using an immunocompetent mouse model of HGG, we found that dietary methionine restriction reduced tumor proliferation, extended survival, and induced partial nuclear inversion. We identified Hp1bp3 as a key regulator of tumor growth that functions by interacting with nuclear tethering proteins to mediate chromatin reorganization. Loss of Hp1bp3 results in the upregulation of histone demethylases leading to selective depletion …

The Neuroprotective Effect Of Cdc42 Inhibition In The G93a Mutant Hsod1 Mouse Model Of Als, Andrea Koly

Undergraduate Theses, Capstones, and Recitals

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease characterized by the selective loss of upper and lower motor neurons, leading to muscle weakness, neuromuscular junction (NMJ) degeneration, paralysis, and eventual death due to respiratory failure. Despite extensive research, effective disease-modifying therapies remain limited, underscoring the need to identify novel molecular targets involved in ALS pathogenesis. Dysregulation of Rho family GTPases has been implicated in neurodegeneration, with Rac and Rho exerting opposing effects on neuronal survival; however, the role of the closely related GTPase Cdc42 remains poorly understood in ALS. In this study, the therapeutic potential of inhibiting …

Intrathecal Antibody Synthesis - Reiber Method Revisited, John J. Halperin, Dane Granger

Department of Neurology Faculty Papers

BACKGROUND: CSF immunoglobulin (IgG) often informs diagnosis in CNS inflammatory disease- qualitatively (oligoclonal bands; OCBs), or quantitatively (CSF: serum IgG: albumin, e.g. IgG index). Most US laboratories estimate excess CSF IgG using linear models, most in Europe, Reiber's hyperbolic model - the latter often also incorporated into CSF pathogen-specific immunoreactivity calculations. We compared Reiber hyperbolic and linear approaches.

METHODS: Required data were available for 1,872 samples, Lyme-specific data for 1,365. We compared linear and Reiber's hyperbolic models to determine which better describes normal CSF: serum IgG/albumin, assessed correlations with OCBs using ROC analysis and compared Lyme-specific antibody indices (AI) by …