Digital Commons Network^™

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 …

Clinical Document Metadata Extraction: A Scoping Review, Kurt Miller, Qiuhao Lu, William Hersh, Kirk Roberts, Steven Bedrick, Andrew Wen, Hongfang Liu

Faculty, Staff and Student Publications

Objectives: Clinical document metadata, such as document type, structure, author role, medical specialty, and encounter setting, is essential for accurate interpretation of information captured in clinical documents. However, vast documentation heterogeneity and drift over time challenge harmonization of document metadata. Automated extraction methods have emerged to coalesce metadata from disparate practices into target schema. This scoping review aims to catalog research on clinical document metadata extraction, identify methodological trends and applications, and highlight gaps warranting further investigation.

Methods: We followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to identify articles from Ovid …

Sex Differences In The Protective Effect Of Brain Volume: Age Attenuates Protection In Women, Javier Gomez-Farias, Ngoc Mai Le, Joseph N Samaha, Bruna Kfoury, Hussain M Azeem, Ritesh Bajaj, Mahnoor Khalid, Freya Kanakhara, Shikha Tripathi, Shayan Shams, Luca Giancardo, Eunyoung A Lee, Robert W Regenhardt, Louise D Mccullough, Sunil A Sheth

Faculty, Staff and Student Publications

Background: Sex differences in outcomes after acute ischemic stroke are well recognized, but mechanisms remain unclear. This study evaluates whether parenchymal brain volume (PBV), age, and final infarct volume explain sex-specific differences in poststroke disability.

Methods: We analyzed a prospectively collected multicenter registry of acute ischemic stroke patients treated between 2015 and 2024. Automated pipelines quantified PBV from noncontrast computed tomography and diffusion-weighted imaging-derived final infarct volume from 24- to 48-hour magnetic resonance imaging. With the primary outcome being 90-day functional independence (modified Rankin Scale score 0-2), sex-stratified logistic regression models evaluated its association with PBV. Stratified logistic and linear …

Medadl: High-Throughput Information Extraction Of Functional Status From Electronic Health Records To Advance Frailty Assessment In Older Adults, Sunyang Fu, Zhiyi Yue, Jennyly T Nguyen, Huipeng Liu, Jaerong Ahn, Vanessa Ramirez, Jude Des Bordes, Hongfang Liu, Min Ji Kwak, Nahid J Rianon

Faculty, Staff and Student Publications

Background: Functional status is essential for assessing frailty and planning care in older adults but is often under-documented in the structured fields of electronic health records. Manual chart review can capture functional status information but is labor-intensive and time-consuming. In this study, we developed and validated a scalable natural language processing (NLP) model to extract functional status information from unstructured electronic health record (EHR) notes.

Methods: This retrospective cohort study included 110 older adults seen at a geriatric osteoporosis clinic. A large language model-augmented symbolic NLP pipeline (MedADL) was developed to extract activities of daily living (ADL) and instrumental activities …

Implementation And Evaluation Of The Owll Intervention To Improve The Quality And Safety Of Pediatric Dental Sedation: A Mixed-Methods Approach, Kawtar Zouaidi, Jan Yeager, Sayali Tungare, Suhasini Bangar, Janelle Urata, Alfa-Ibrahim Yansane, Jungsoo Kim, Emily Sedlock, Krishna K Kookal, Yan Xiao, Oluwabunmi Tokede, Heiko Spallek, Amy Franklin, Gregory Olson, Joel White, Elsbeth Kalenderian, Muhammad F Walji

Faculty, Staff and Student Publications

Background: The OWLL (Open-Wide Learning Lab) intervention was developed using Human-Centered Design to improve the quality and safety of pediatric dental sedation. The intervention includes a patient-facing informational sedation brochure and video, and an enhanced set of clinical sedation records. Here, we report on the process evaluation 6 months after implementation in daily clinical practice.

Methods: This study was conducted at the outpatient pediatric dental clinics of 2 large US academic dental institutions. We used a mixed-methods design to assess the fidelity, acceptability, appropriateness, and feasibility of the OWLL intervention. Quantitative data were gathered through chart reviews, while qualitative data …

A Phase-Ii Randomized Controlled Pilot Study Of Nicotinamide Riboside Supplementation In Older Adults With Amnestic Mild Cognitive Impairment, Christopher Martens, Kevin Decker, Theodore Deconne, Faria Sanjana, Fiona Horvat, Nicholas Rizzi, Catherine Awad, Elizabeth Habash, Joshua Hobson, Mary Kramer, Michael Armstrong, Nichole Reisdorph, Ryan Pohlig, Alyssa Lanzi, Curtis Johnson, Matthew Cohen, James Ellison

Department of Psychiatry and Human Behavior Faculty Papers

INTRODUCTION: Declining nicotinamide adenine dinucleotide (NAD+) may elevate risk of Alzheimer's disease.

METHODS: We conducted a 12-week double-blind, randomized, placebo-controlled pilot study to evaluate the safety, tolerability, and preliminary efficacy of the NAD+ precursor, nicotinamide riboside (NR), for enhancing cognitive function and cerebral blood flow (CBF) in adults with amnestic mild cognitive impairment (aMCI).

RESULTS: 42 participants completed the study (NR = 22, placebo = 20). Adherence was similar between groups with no serious adverse effects. Blood NAD+ increased twofold in the NR group. There were no improvements in cognitive function (primary outcome), total CBF, or blood pressure (secondary outcomes). …

School Of Nursing Newsletter Summer 2026, Southern Adventist University

Southern Nursing - School of Nursing Newsletter

The Summer 2026 issue of the newsletter features information on the Hamilton County Homeland Security emergency preparedness event held in April, an update on the Nursing Simulation Center, the spring RHO IOTA induction ceremony, and mission trip experiences.

The Effects Of Abstinence Status And Sleep Quality On Resting State Alpha Power In Cocaine Use Disorder, Heather E Webber, Danielle A Kessler, Joy M Schmitz, Scott D Lane, Robert Suchting

Faculty, Staff and Student Publications

Rationale

Substance use disorders are associated with notable sleep disturbances. Electroencephalogram (EEG) alpha power occurs during wakeful rest, is associated with sleepiness, and indicates neural deactivation.

Objectives

The goal of the current study was to assess the effects of abstinence on the relationship between alpha power and subjective sleep quality in participants with cocaine use disorder (CUD).

Methods

Participants with CUD (n = 32) who were recently or non-abstinent completed a resting-state EEG paradigm (90 s eyes open/closed). Absolute alpha power was calculated using the fast Fourier transform and by averaging within the power spectra of the alpha band (8–13 …

Does Antibiotic Therapy Affect Multiplex Pcr Results In Community-Acquired Bacterial Meningitis?, Caroline Reckart, Elizabeth Aguilera, Audrey Wanger, Rafael Bravo-Santos, Rodrigo Hasbun

Faculty, Staff and Student Publications

No abstract provided.

Diversity And Inclusivity In Australian Dementia Prevention Research: A Mixed Methods Review, Olivia E. Giameos, Maddison L. Mellow, Diana Karamacoska, Aaron Davis, Paul A. Gardiner, Eddy Roccati, Kaarin J. Anstey, Nicolas Cherbuin, Jessica M. Adsett, Nikki Anne Wilson, Kylie Radford, Louise Lavrencic, Perminder S. Sachdev, Simone Reppermund, Suraj Samtani, Annabel P. Matison, Zara A. Page, Philip J. Batterham, Sophie C. Andrews, Alex Bahar-Fuchs, Michelle K. Lupton, Andrew Pipingas, Adrienne Withall, Belinda M. Brown, Helen Macpherson, Hannah A.D. Keage, Britt Burton, James C. Vickers, David W. Dunstan, Ashleigh E. Smith

Research outputs 2022 to 2026

Minoritized communities are disproportionately impacted by modifiable dementia risk factors but are underrepresented in dementia research globally. In Australia, the number of dementia prevention cohort and intervention studies has rapidly increased in the past two decades, yet the representation of minoritized groups has not been synthesized. The aims of this mixed-methods review were to summarize the demographic characteristics of participants involved in Australian dementia prevention-focused cohort and intervention studies. A systematic search of published literature, funded grant outcomes, and clinical trial registrations was conducted in October 2023 and updated in February 2025 to identify any Australia-based cohort or intervention studies …

Global Prevalence Of Internet Gaming Disorder: An Umbrella Review Of Meta-Analytic Evidence And Implications For Child And Adolescent Psychiatry, Elisabeth C. S. Poon, Xun Ci Soh, Trina J. H. Poh, Andre C. S. Tan, Andree Hartanto

Research Collection School of Social Sciences

Background/Objectives: Internet gaming has become a widespread global activity, raising concerns about the prevalence of Internet Gaming Disorder (IGD). However, existing meta-analyses report highly variable prevalence estimates. This umbrella review aims to clarify the prevalence and variability of IGD by synthesizing evidence from meta-analyses to provide a comprehensive overview of IGD prevalence across populations, age groups, and regions. Methods: Following PRISMA guidelines, systematic searches were carried out across five published literature databases and two supplementary search sources. Title and abstract screening, followed by full-text eligibility assessment, were conducted independently by three authors. The same three authors then performed data extraction …

Relationship Of Early Rapid Weight Loss To Efficacy And Safety Of Tirzepatide And Semaglutide For Obesity: Surmount-5 Post Hoc Analysis, Louis J Aronne, Deborah B Horn, Alexander D Kokkinos, Beverly L Falcon, Hui Wang, Hunter T Hoffmann, Clare J Lee, Julia P Dunn

Faculty, Staff and Student Publications

Background: A knowledge gap remains in how the rate of body weight reduction impacts efficacy and safety of obesity management medications. This SURMOUNT-5 post hoc analysis aimed to define rapid responders and evaluated efficacy and safety of tirzepatide versus. semaglutide in rapid responders versus non-rapid responders.

Methods: Rapid responders and non-rapid responders were defined as participants that obtained ≥ 15% and < 15% body weight reduction by Week 24, respectively. Baseline characteristics, and proportion of participants achieving body weight reduction thresholds by Week 72 were assessed. End-of-study safety and gastrointestinal adverse events measures were summarized.

Results: Overall, 32.3% were rapid responders (tirzepatide: 44%, semaglutide: 21%). The proportions of participants achieving body weight reduction thresholds by Week 72 were higher for rapid responders versus non-rapid responders. Safety trends for tirzepatide and semaglutide were similar between …

The Effect Of Vaccine Mandates On Disease Spread: Evidence From College Covid-19 Mandates, Riley K. Acton, Wenjia Cao, Emily E. Cook, Scott A. Imberman, Michael F. Lovenheim

Research Collection School Of Economics

Nearly 700 4-year U.S. colleges mandated students receive COVID-19 vaccinations in fall 2021. Using data on college policies and county health, we estimate how mandates affect surrounding communities. Event studies from August to November 2021 show that mandates covering all colleges in a county reduced COVID-19 deaths by 5.6 per 100,000 persons, a 4.6% reduction in the U.S. total during this period. Mandates reduced COVID cases by 504 and ICU admissions by 16.2 per 100,000, though we see no statistically significant impact on hospitalizations. Impacts are larger in counties with larger college populations and low estimated ex-ante student vaccination rates.

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 …

Perceptions Of Research Participation Among Underrepresented Groups: Insights Using Freelisting Methodology, Tamar Klaiman, Jasmine Silvestri, Emma Britez Ferrante, Dorothy Sheu, Adina Lieberman, Erich Dress, Modele Ogunniyi, Neal Dickert, Meghan Lane-Fall, Rosemary Frasso, Rachel Kohn

College of Population Health Faculty Papers

BACKGROUND: Low enrollment and retention in clinical research disproportionately impact Black, Hispanic or Latinx, women, and rural populations, undermining generalizability and perpetuating health disparities. However, few studies have compared mechanisms driving underrepresentation across populations. Freelisting is a qualitative methodology that elicits lists of terms, explores perspectives about domains, and identifies common themes within groups with shared characteristics; however, it has not been systematically applied to understand research participation across underrepresented populations.

OBJECTIVE: To explore perspectives on clinical research participation across underrepresented populations using freelisting methodology to ultimately inform culturally-responsive recruitment strategies.

METHODS: We conducted a web-based freelisting survey among adults …

Proteogenomics Of Hypertrophic Cardiomyopathy Reveals Subtype-Specific Therapy, Ke Ma, Jie Yang, Hongchang Guo, Ping Li, Xiaowei Li, Zhujun Dong, Jing Zhang, Congcong Zhang, Pengli Yang, Chongpei Hua, Shuolin Zhu, Guoqing Li, Jianchao Zhang, Ningyu Ding, Jizheng Wang, Xin-Liang Ma, Zhuofeng Lin, Jianzeng Dong, Yang Li, Yulin Li

Department of Emergency Medicine Faculty Papers

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease with diverse prognosis. The underlying mechanisms remain unknown, resulting in limited risk stratification and therapeutic strategies. This study aimed to elucidate molecular subtypes of HCM through integrated proteogenomic analysis and explore subtype-specific therapeutic strategies.

METHODS: We conducted an integrated proteogenomic analysis of 132 patients with HCM using myocardial samples, incorporating whole-exome sequencing, RNA sequencing, and proteomics. Unsupervised clustering was used to identify HCM subtypes, which were validated in heart tissues and human induced pluripotent stem cell-derived cardiomyocytes from 2 independent HCM subsets. Subtype-specific signatures and pathways were explored, and their causal link …

Donor-Derived Cell-Free Dna As A Prognostic Biomarker After Heart Transplantation: The Define-Ht Study, Palak Shah, Paul J. Kim, Kelly H. Schlendorf, David A. Baran, Monica M. Colvin, Adam D. Devore, Howard Eisen, Kambiz Ghafourian, Michael M. Givertz, Eileen Hsich, Jaime L. W. Kennedy, Evan P. Kransdorf, Jose N. Nativi-Nicolau, Jignesh Patel, Eleni Tseliou, Omar Wever-Pinzon, Andrew Doud, Michelle S. Bloom, Sandra A. Carey, Navchetan Kaur, D Giovanni Biagini, Kyle E. Marshall, Michael Olympios, Mandeep R. Mehra, Josef Stehlik

Department of Medicine Faculty Papers

BACKGROUND: Measurement of donor-derived cell-free DNA fraction (dd-cfDNA%) and donor quantity score (DQS) is a noninvasive biomarker of acute rejection in heart transplantation (HT). Its prognostic value beyond histopathology remains uncertain.

OBJECTIVES: This study sought to evaluate associations between donor-derived cell-free DNA (dd-cfDNA) and clinically meaningful outcomes using a composite endpoint of treated rejection, graft dysfunction, retransplantation, or death within 1 year post-HT.

METHODS: The DEFINE-HT (Development of Noninvasive Cell-free DNA to Supplant Invasive Biopsy in Heart Transplantation) was a prospective, observational study following adult HT recipients at 10 U.S. centers for 1-year post-HT; blood was collected for dd-cfDNA testing …

Pearson Syndrome: Expanding The Clinical Spectrum Of A Mitochondrial Cytopathy-A Case Report, Alizah Faisal, Hooria Waqas, Hania Masood, Armeen Butt, Saad Rahman, Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Usama Naveed

Department of Medicine Faculty Papers

BACKGROUND: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions (SLSMDs). It typically presents in infancy with refractory sideroblastic anemia, exocrine pancreatic insufficiency, and failure to thrive. Due to its heterogeneous manifestations and resemblance to other hematological conditions, early diagnosis remains a clinical challenge.

CASE PRESENTATION: A south asian male infant presented with persistent pancytopenia, severe anemia unresponsive to intravenous and oral iron and multivitamin supplements, exocrine pancreatic insufficiency, failure to thrive, and metabolic acidosis. Born to consanguineous parents, the child had a significant family history of early infant deaths and hematological abnormalities. …

Caregiver Health Literacy Is Associated With Pediatric Burn Recovery Outcomes, Ananya Sampathkumar, Anna Sabukurian, Erin M. Morris, Alyssa M. Griffith, Nicholas A. Long, Alexa Cumming, Macie Boden, Christina G. Morris, Lauren K. Mayon, Thian H. Nguyen, Allison L. Speer, Natalie A. Drucker

Summer Research Program Abstracts

No abstract provided.

Patient Perspectives On Psychiatric Polygenic Risk Scores In Reproductive Decision-Making And Polygenic Embryo Screening., Lauren A Ginn, Amanda R Merner, Page M Trotter, Kaitlynn P Craig, Abigail C Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M Ayton, Takahiro Soda, Eric A Storch, Gabriel Lázaro-Muñoz, Stacey Pereira

Center for Medical Ethics and Health Policy Staff Publications

Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome-wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions. As individuals with mental illness often identify concern about passing on psychiatric conditions as a key factor in family planning, some may also seek to use psychiatric PRS in reproductive decisions like childbearing or embryo selection for in vitro fertilization. Despite calls for increased regulation, there remains no clinical consensus on the utility of psychiatric PRS in reproductive contexts. Therefore, we conducted semi-structured interviews of adults with …

Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta

Faculty, Staff and Students Publications

Mitochondria remain at the core of cell metabolism, whereas the nucleus integrates cellular and environmental signals to activate genes. However, the mechanisms that directly link cellular metabolism to gene regulation are not well understood. Here we show, a metabolic pathway in the nucleus controls acetylation of histones by nuclear localization of mitochondrial enzymes aconitase (ACO2) and isocitrate dehydrogenase (IDH2). Metabolic tracing studies show that IDH2 and ACO2 catalyze reductive carboxylation of α-ketoglutarate to rapidly synthesize citrate to increase nuclear acetyl-CoA pool. Genetic and proteomic analyses reveal nuclear IDH2 and ACO2 form a complex with KAT2A/GCN5 for acetylation of histones to …

Genetics Of Cerebrotendinous Xanthomatosis, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Cerebrotendinous xanthomatosis (CTX) is rare, autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in CYP27A1, which encodes sterile 27 hydroxylase, a key enzyme in bile acid biosynthesis. Enzyme deficiency results in reduced cholic and chenodeoxycholic acid synthesis with accumulation of cholestanol, bile acid intermediates, and bile alcohols, producing a progressive multisystem disorder characterized by chronic diarrhea, juvenile-onset cataracts, tendons xanthomas, and neurological dysfunction. Although CTX typically begins in childhood, diagnosis is frequently delayed until adulthood, limiting the benefit of effective disease modifying therapy with chenodeoxycholic acid. Since the identification of CYP27A1, more than 200 pathogenic variants have …

Statistics Of Natural Scenes Shape Contextual Modulation In The Visual Cortex, Jiakun Fu, Suhas Shrinivasan, Luca Baroni, Zhuokun Ding, Paul G Fahey, Paweł A Pierzchlewicz, Nikos Karantzas, Kayla Ponder, Rachel Froebe, Lydia Ntanavara, Taliah Muhammad, Konstantin F Willeke, Eric Wang, Zhiwei Ding, Dat Tran, Stelios Papadopoulos, Saumil Patel, Jacob Reimer, Alexander S Ecker, Xaq Pitkow, Jan Antolik, Fabian H Sinz, Ralf M Haefner, Andreas S Tolias, Katrin Franke

Faculty, Staff and Students Publications

Vision is context dependent, with neuronal responses shaped not only by local features but also by surrounding visual input. While classical studies, using grating stimuli, show that iso-oriented surrounds suppress responses more than orthogonal surrounds, the role of contextual modulation under natural stimulus conditions remains less clear. Using recordings from mouse primary visual cortex (V1), we trained convolutional neural network models to predict neuronal responses to natural images and synthesized surround stimuli that selectively suppressed or facilitated responses to optimal center inputs. In vivo experiments confirmed these predictions. Facilitatory surrounds resembled naturalistic continuations of the optimal center stimulus, consistent with …

Homework Adherence In Exposure-Based Cbt For Youth With Obsessive-Compulsive Disorder: Clinical Outcomes And Predictors Across Treatment, Abigail E Pine, Qimin Liu, Eric A Storch, Daniel A Geller, Brent J Small, Sabine Wilhelm, Joseph F Mcguire

Faculty, Staff and Students Publications

Exposure-based cognitive behavioral therapy (CBT) is the frontline treatment for pediatric obsessive-compulsive disorder (OCD), but not all youth fully respond to this treatment. While multiple factors may influence CBT response, homework adherence in CBT is a modifiable target that can improve treatment outcomes. This report examines the relationship between homework adherence and clinical outcomes in a large sample of youth with OCD who received exposure-based CBT. Here, 137 youth with OCD between 7 and 17 years old (M = 12.42, SD = 2.88) participated in a randomized controlled trial of exposure-based CBT. Homework adherence was monitored weekly, and OCD severity …

Altered Glr-1 Expression After Etoh Withdrawal Is Linked To Associative Behavior Deficits In C. Elegans, Katie Brandel-Ankrapp, Rachel N Arey

Faculty, Staff and Students Publications

Chronic ethanol (EtOH) exposure and withdrawal are linked to worsened memory and cognitive outcomes. One target of EtOH is the glutamatergic α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). Both EtOH exposure and withdrawal influences AMPAR expression, function, and broad glutamate signaling. Previous work suggests that EtOH regulation of AMPARs drives behaviors related to dependence and memory phenotypes. However, due to the complexity of the mammalian brain, it is difficult to unravel the precise mechanism by which EtOH regulates AMPARs in mammals to modify specific memory behaviors. In Caenorhabditis elegans, GLR-1, an AMPAR ortholog, has tightly defined expression in relatively few neurons, conserved …

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …

Development Of An Educational Curriculum For The Surgical Implantation Of Dbs Systems, David Bieber, Rany T Abdallah, Alaa Ab-Elsayed, Adam R Burkey, Dario J Englot, Kunal Gupta, Charles N Munyon, Casey H Halpern, Kai J Miller, Joshua M Rosenow, Ahmed M Raslan, Konstantin V Slavin, Jennifer A Sweet, Sameer Sheth, Nestor Tomycz, Ashwin Viswanathan, Chengyuan Wu, Jeffrey S Raskin

Faculty, Staff and Students Publications

Background: Deep-brain stimulation (DBS) systems are implanted for movement disorders, epilepsy, and psychiatric conditions. Neurologic surgery remains the only discipline credentialed to implant DBS devices, although significant practice variation exists, partly due to heterogeneous training. The North American Neuromodulation Society (NANS) education committee offers a granular recommendation for the progression of an early learner through the practitioner level. It is contextualized within the six-core competency rubric for the surgical implantation of DBS devices.

Materials and methods: Guided by the Accreditation Council for Graduate Medical Education (ACGME) core competencies, a subcommittee of the NANS education committee met virtually and in-person over …

Longitudinal And Cross-Sectional Evidence That Daily Resting And Activity Energy Expenditures Are Independent In Humans, Andrew K Yegian, Elizabeth Pachus, Leanne M Redman, Steven B Heymsfield, K Falkenhain, Alexandra R Harris, Shaji K Chacko, William W Wong, Daniel E Lieberman

Faculty, Staff and Students Publications

Total energy expenditure (TEE) is commonly modelled as the sum of resting energy expenditure (REE), activity energy expenditure (AEE), and diet-induced thermogenesis (DIT). This additive model has recently been challenged by the constrained energy balance model, which proposes that reductions in mass-adjusted REE compensate to some extent for increases in AEE, rendering mass-adjusted TEE effectively invariant. We tested these competing models using two complementary approaches. First, we conducted a short-term longitudinal, repeated-measures experiment in 12 adults who completed 10-day periods of high and low physical activity separated by a washout period. TEE was measured with doubly labelled water, AEE with …

Jak Inhibition In Pnpt1-Related Mitochondrial Interferonopathy: A Case Report And Review Of Mitochondrial-Immune Crosstalk, Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia

Faculty, Staff and Students Publications

Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA). This mechanism connects mitochondrial disease to interferonopathies such as Aicardi–Goutières syndrome (AGS). We describe a 7‐month‐old female infant with compound heterozygous PNPT1 variants presenting with severe hypotonia, feeding difficulties necessitating gastrostomy, dystonia, and elevated serum lactate. Brain magnetic resonance imaging (MRI) demonstrated marked cerebellar, brainstem, and basal ganglia atrophy, with a lactate peak on MR spectroscopy (consistent with an inverted doublet). Serum immune profiling revealed a mild but elevated …

Author Correction: Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth

Faculty, Staff and Students Publications

This corrects the article "Plasticity and language in the anaesthetized human hippocampus" in volume 654 on page 714.