Medicine and Health Sciences Commons^™

The Epidemiology Of Sports And Recreation Related Toe Fractures In The United States, Dogerno Norceide, Gabriel I. Onor, Oluwatomi Akingbola, William Justice, Nana F. Amponsah, Abimbola Okulaja, Ifeanyichukwu Onor, Michael Okoronkwo, Chibuikem Nwizu, David Pedowitz

School of Medicine Faculty Publications

BACKGROUND: Fractures of the toes are among the most frequently diagnosed lower extremity fractures. In sports, toe fractures may present after diverse mechanisms of injury, varying severity, and varying implications for management. This study aimed to discern trends in toe fractures presenting to US emergency departments (EDs) particularly in association with sports and recreational activities. An additional aim of the study was to identify if rates of toe fracture presentation significantly decreased during the year 2020 at the height of the COVID-19 pandemic. METHODS: We queried the National Electronic Injury Surveillance System (NEISS) database to identify toe fractures presented to …

De Novo Variants In Rybp Are Associated With A Severe Neurodevelopmental Disorder And Congenital Anomalies, Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra Von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K Chung, Rebecca R Hernan, Foong Y Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K Graves, Undiagnosed Diseases Network, Michael F Wangler, Carlos Bacino, Brendan Lee

Duncan NRI Faculty and Staff Publications

Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of the noncanonical Polycomb Repressor Complex 1; however, its role in disease is unclear.

Methods: Functional consequences of RYBP variants were assessed using in vitro cellular and in vivo Drosophila melanogaster studies.

Results: We described 7 individuals with heterozygous de novo variants of RYBP and their clinical findings, including severe developmental delay, dysmorphisms, and multiple congenital anomalies. We showed that all single-nucleotide variants in RYBP localize to the N-terminal domain of …

The Internist's Post V.1 N.13, The University Of Texas Rio Grande Valley. School Of Medicine, Jian Garcia Cruz, Julio Javier Perez Rodriguez, Ramon Elizondo Romo, Barbara Malaga-Espinoza, Carlos Alejos Aguero, Osiris Fernandez, Edgar Dorsey Trevino, Diana Othon Martinez, Roque Mifuji Lira, Martha Solis, Cesar Gutierrez

School of Medicine Publications

No abstract provided.

Efficacy Of Glucagon-Like Peptide-1 Receptor Agonists For Prevention Of Stroke Among Patients With And Without Diabetes: A Meta-Analysis With The Select And Flow Trails, Asmita Gera, Fakhar Latif, Vamsikalayan Borra, Sidra Naz, Vivek Mittal, Fathima Shehnaz Ayoobkhan, Tushar Kumar, Zarghoona Wajid, Novonil Deb, Tanisha Prasad

School of Medicine Publications

Background

Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have shown a reduction in major adverse cardiovascular events (MACE) among patients with type 2 diabetes mellitus (T2DM). However, its efficacy on cerebrovascular events is yet to be well established among diabetic and non diabetic patients.

Objective

We sought to evaluate the efficacy of GLP-1 RAs on stroke risk among its different types in patients with and without Diabetes.

Methods

We performed a systematic literature search on PubMed, EMBASE, and ClinicalTrials.gov for relevant randomized controlled trials (RCTs) from inspection until 15th July 2024, without any language restrictions. Odds ratios (OR) and 95 % …

Small-Molecule Mitotic Inhibitors As Anticancer Agents: Discovery, Classification, Mechanisms Of Action, And Clinical Trials, Yazmin Salinas, Subhash Chauhan, Debasish Bandyopadhyay

School of Medicine Publications

Despite decades of research, cancer continues to be a disease of great concern to millions of people around the world. It has been responsible for a total of 609,820 deaths in the U.S. alone in 2023. Over the years, many drugs have been developed to remove or reduce the disease’s impact, all with varying mechanisms of action and side effects. One class of these drugs is small-molecule mitotic inhibitors. These drugs inhibit cancer cell mitosis or self-replication, impeding cell proliferation and eventually leading to cell death. In this paper, small-molecule mitotic inhibitors are discussed and classified through their discovery, underlying …

Baseline Associations Of Office And Ambulatory Blood Pressure Monitoring With Cognitive Function And Dementia Prevalence, Jesus Melgarejo, Dhrumil Patil, Sokratis Charisis, Kristina P. Vatcheva, Silvia Mejia-Arango, Luis J. Mena, Claudia Satizabal, Eron G. Manusov, Sudha Seshadri, Gladys E. Maestre

School of Medicine Publications

Background: High blood pressure has been associated with dementia prevalence and incident. However, it is unclear the relationship of office and ambulatory BP monitoring with cognitive function and dementia and in particular, it remains unknown whether ambulatory BP variability relates to dementia.

Objective: To investigate the associations of office and 24-h blood pressure (BP) with cognitive function and dementia prevalence.MethodsCross-sectional population-based study of 1435 participants aged ≥40 years with office BP/24-h BP, and cognitive assessments (Mini-Mental State Examination [MMSE] and Selective Reminding Test [SRT]). Dementia was diagnosed with a clinical dementia rating ≥1.0. Statistics included logistic and linear regression models. …

A Multipronged Effort To Incorporate Professionalism Into Campuswide Programming Through A Center For Professionalism, Kyler M Godwin, Asma Ali, Larry Laufman, Ellen M Friedman

Faculty, Staff and Students Publications

Background Professionalism, a core competency for graduate medical education accreditation, has a clear educational mandate. However, the pathway to successful incorporation of professionalism within organizational culture has not been established. Integration of professionalism within the learning environment requires intentional design and formal education. Objective To describe the integration of professionalism in the learning environment through formal education and programming and report feasibility and acceptability data.

Methods The Center for Professionalism (Center) was developed in 2013 to align with the learning and clinical environments of our academic medical center. Primary drivers of a culture of professionalism were identified through input from …

The Association Between County-Level Social Determinants Of Health And Cardio-Kidney-Metabolic Disease Attributed All-Cause Mortality In The Us: A Cross Sectional Analysis, Antoinette Cotton, Pedro Rvo Salerno, Salil V Deo, Salim S Virani, Khurram Nasir, Ian Neeland, Sanjay Rajagopalan, Naveed Sattar, Sadeer Al-Kindi, Yakov E Elgudin

Faculty, Staff and Students Publications

Background: The American Heart Association recently defined cardio-kidney-metabolic (CKM) syndrome as the intersection between metabolic, renal, and cardiovascular disease. Understanding the contemporary estimates of CKM related mortality in the US is essential for developing targeted public interventions.

Methods: We analyzed state-level and county-level CKM-associated all-cause mortality data (2010-2019) from the CDC Wide-ranging Online Data for Epidemiologic Research (WONDER). Median and interquartile (IQR) age-adjusted mortality rates (aaMR) per 100,000 were reported and linked with a multi-component metric for social deprivation: the Social Deprivation Index (SDI: range 0 - 100) grouped as: I: 0 - 25, II: 26 - 50, III: 51 …

Telehealth Is Effective In The Evaluation Of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study, Queenie K-G Tan, Allyn Mcconkie-Rosell, Rachel Mahoney, Rebecca C Spillmann, Kelly Schoch, Sirisak Chanprasert, Maria T Acosta, Camilo Toro, Jill A Rosenfeld, James P Orengo, Daryl A Scott, Jorge L Granadillo, Kathleen Sisco, Daniel J Wegner, Mustafa Tekin, Stephanie Bivona, Léshon Peart, Lance Rodan, Devon Bonner, Matthew T Wheeler, Jonathan A Bernstein, Maura Ruzhnikov, Undiagnosed Diseases Network, David R Adams, Fuki M Hisama, Vandana Shashi

Faculty, Staff and Students Publications

Patients with undiagnosed and/or rare disorders frequently manifest dysmorphic and neurological features. There is a lack of information on the effectiveness of telehealth in the evaluation of these disorders. We thus compared an unassisted virtual physical examination (PE) with an in-person PE in undiagnosed individuals and also assessed participant telehealth satisfaction. Twenty-six individuals enrolled in the Undiagnosed Diseases Network study underwent an in-home synchronous virtual PE, and a subsequent in-person PE, by the same clinician. The participants completed surveys on telehealth usability and provider empathy. On PE, general appearance and craniofacial features showed near perfect agreement (κ = 0.81-1.00) between …

Most Elderly Patients With Subclinical Hypothyroidism Do Not Need To Be Treated, Risheng Xu, Nicola Abate, Nalini Ram, Kristina Little

Faculty, Staff and Students Publications

Whether subclinical hypothyroidism should be treated in elderly patients (≥ 65 years) is controversial. The authors argue for a personalized, wait-and-see approach rather than universal treatment, pointing out that randomized clinical trials have not shown that levothyroxine treatment makes any difference in terms of hard clinical end points, quality of life, or hypothyroid symptom relief in elderly patients with this condition.

Il-12-Producing Cytokine Factories Induce Precursor Exhausted T Cells And Elimination Of Primary And Metastatic Tumors, Amanda Nash, Jonathon Debonis, Danna Murungi, Bertha Castillo, Boram Kim, Fangheng Hu, Courtney Chambers, Annie Nguyen, Andrea Hernandez, Zeshi Wang, Peter D Rios, Sofia Ghani, Ira Joshi, Douglas Isa, Ningbo Zheng, Weiyi Peng, Oleg A Igoshin, Jose Oberholzer, H Courtney Hodges, Nathan Reticker-Flynn, Omid Veiseh

Faculty, Staff and Students Publications

Background: Curative responses to immunotherapy require the generation of robust systemic immunity with limited toxicity. Recruitment of T cell populations such as precursor exhausted T cells (Tpex) from lymphoid tissues to tumors is a hallmark of effective treatment. However, the ability to efficiently induce this recruitment is lacking in current immunotherapy approaches. Furthermore, systemic administration of immunotherapies frequently results in dose-limiting toxicities, yielding an inadequate therapeutic window for eliciting durable responses.

Methods: In this investigation, we evaluated the safety and antitumor efficacy of locally administered interleukin 12 (IL-12) using a clinically translatable cytokine delivery platform (NCT05538624) to identify …

Long-Term Assessment Of Skeletal And Dental Asymmetry After Conventional And Mini-Implant-Assisted Rapid Palatal Expansion, Brett Barton, Shea Jamieson, Marinho Del Santo Jr, Manuel Lagravere Vich, Dawei Liu, Sumit Yadav, Shivam Yogesh Mehta

School of Dentistry Faculty Research and Publications

Introduction

This study aimed to evaluate the short-term and long-term skeletal and dental asymmetry with miniscrew-assisted rapid palatal expansion (MARPE), rapid palatal expansion (RPE), and control group using cone-beam computed tomography (CBCT) analysis.

Methods

A total of 180 CBCT scans were analyzed for 60 patients divided into 3 groups: MARPE (mean age 13.7 ± 1.74 years), RPE (mean age 13.9 ± 1.14 years), and control (mean age 13.3 ± 1.49 years). CBCT scans were recorded at 3 points: pretreatment (T1), postexpansion (T2), and posttreatment (T3). The anterior nasal spine, posterior nasal spine, zygomaticomaxillary point, anterior nasal cavity width, posterior nasal …

Effect Of Surface Conditioning On The Adhesive Bond Strength Of 3d-Printed Resins Used In Permanent Fixed Dental Prostheses, Marco Dederichs, Zaid Badr, Stephanie Viebranz, Sandor Nietzsche, Ulrike Schulze-Spate, Anne-Sophie Schmelzer, Thomas Lehmann, Arndt Guentsch

School of Dentistry Faculty Research and Publications

Objectives

Although pre-treatment parameters for subtractive computer-aided design/computer-aided manufacturing (CAD/CAM) materials have been thoroughly investigated, data regarding additive restorative materials designed for permanent use in the oral cavity are scarce. This study investigated the effects of abrasive materials and blasting pressure on the bond strength of 3D-printed resins used in permanent restorations.

Methods

A total of n = 44 test specimens additively manufactured from Formlabs’ `Permanent Crown Resin' were prepared. Three groups with n = 11 specimens were airborne-particle abraded with 50 µm aluminium oxide at 1 bar, 2 bar or 3 bar. The control group did not receive any …

Dental Anxiety And Oral Health In American Indian And Alaska Natives, Tamanna Tiwari, Casey D. Wright, Lisa J. Heaton, Morgan Santoro, Eric P. Tranby

School of Dentistry Faculty Research and Publications

Objective

American Indian and Alaska native (AI/AN) individuals report distrust of the healthcare system. This study explored associations between having either high levels of dental distrust or high levels of dental care-related fear and anxiety (“dental anxiety”) and oral health outcomes in AI/AN adults.

Methods

The 2022 State of Oral Health Equity in America survey included the Modified Dental Anxiety Scale and asked to what extent respondents agreed with the statement, “At my last oral health visit, I trusted the oral health provider I saw”, and asked about self-rated oral health and presence of a dental home.

Results

AI/AN individuals …

Defining The Transcriptional Basis Of Organ-Specific Endothelial Cell Specialization, Joshua D. Wythe, James F. Martin

Faculty, Staff and Students Publications

Blood vessels feature extensive phenotypic and functional differences that help them meet the unique nutritive and energetic demands of the specific organ they reside in. Profiling the chromatin and transcriptional landscape of several organs identified novel gene regulatory networks that determine endothelial cell organ specialization in mammals.

Impacts Of Imageability Of Architecture On Brain Health: A Systematic Literature Review, Cristian Maestre, Shana Garza, Yohany Albornoz, Silvia Mejia-Arango, Jesus D. Melgarejo, Gladys Maestre

School of Medicine Publications

Imageability is a component of urban design and planning that has been recognized for its potential to enhance people’s perceptual and emotional engagement with their environment. Nevertheless, evidence supporting specific strategies and its impacts on brain health is still unclear. This systematic review aimed to characterize and summarize the evidence on the importance of imageability of architecture for brain cognitive and psychological health. This systematic review was conducted following the PRISMA guidelines. Our keywords included imageability and architecture, environment, built environment, neuroarchitecture, aphantasia, urban design, memorability, visual recall, mental visualization, architectural features, façade, wayfinding, familiarity, vividness, cognition, expectations, green walls, …

Safety Outcomes Of Antiplatelet Therapy During Endovascular Treatment Of Tandem Lesions In Acute Ischemic Stroke Patients, Mudassir Farooqui, Afshin A. Divani, Milagros Galecio-Castillo, Ameer E. Hassan, Mouhammad A. Jumaa, Marc Ribo, Michael Abraham, Nils Petersen, Johanna T. Fifi, Wondwossen G. Tekle

School of Medicine Publications

Risk of hemorrhage remains with antiplatelet medications required with carotid stenting during endovascular therapy (EVT) for tandem lesion (TLs). We evaluated the safety of antiplatelet regimens in EVT of TLs. This multicenter study included anterior circulation TL patients from 2015 to 2020, stratified by periprocedural EVT antiplatelet strategy: (1) no antiplatelets, (2) single oral, (3) dual oral, and (4) intravenous IV (in combination with single or dual oral). Primary outcome was symptomatic intracranial hemorrhage (sICH). Secondary outcomes were any hemorrhage, favorable functional status (mRS 0-2) at 90 days, successful reperfusion (mTICI score ≥ 2b), in-stent thrombosis, and mortality at 90 …

Guideline-Directed Medical Therapy And Outcomes In The Ischemia Trial, David J Maron, Jonathan D Newman, Rebecca Anthopolos, Ying Lu, Susanna Stevens, William E Boden, Kreton Mavromatis, Jason Linefsky, Rajesh G Nair, Olga Bockeria, Gilbert Gosselin, Gian P Perna, Elena Demchenko, David Foo, Michael D Shapiro, Mary Ann Champagne, Christie Ballantyne, Peter Mccullough, Jose Luis Lopez-Sendon, Frank Rockhold, Frank Harrell, Yves Rosenberg, Gregg W Stone, Sripal Bangalore, Harmony R Reynolds, John A Spertus, Judith S Hochman

Faculty, Staff and Students Publications

Background: Guideline-directed medical therapy (GDMT) with multiple risk factor goals is recommended for patients with chronic coronary disease (CCD), yet achieving all GDMT goals is uncommon. The relative importance of these goals and timing of their attainment on cardiovascular events is uncertain.

Objectives: This study aims to describe the relationship between achieving specific GDMT goals, when they are achieved, and clinical outcomes.

Methods: This was an observational study of participants with CCD in the ISCHEMIA (International Study of Comparative Health Effectiveness with Medical and Invasive Approaches) trial. The primary outcome was cardiovascular (CV) death or myocardial infarction (MI). GDMT goals …

Crispr/Cas9 Gene Therapy Increases The Risk Of Tumorigenesis In The Mouse Model Of Hereditary Tyrosinemia Type I, Tong Chen, Mercedes Barzi, Nika Furey, Hyunjae R Kim, Francis P Pankowicz, Xavier Legras, Sara H Elsea, Ayrea E Hurley, Diane Yang, David A Wheeler, Malgorzata Borowiak, Beatrice Bissig-Choisat, Pavel Sumazin, Karl-Dimiter Bissig

Center for Medical Ethics and Health Policy Staff Publications

Background & aims: The therapeutic potential of CRISPR gene editing has been demonstrated in various animal models; however, little is known about its long-term consequences. This study seeks to bridge this gap by investigating the lasting consequences of CRISPR gene therapy in an animal model of hereditary tyrosinemia type I (HT-I). We compared the standard of care-nitisinone, a small molecule inhibitor of hydroxyphenylpyruvate dioxygenase (HPD)-with the deletion of the Hpd gene by CRISPR gene therapy. Both treatments block flux through tyrosine catabolism and thereby prevent the accumulation of toxic catabolites in HT-I.

Methods: We assessed the efficacy and safety of …

Ethical Considerations For Sharing Aggregate Results From Pragmatic Clinical Trials, Stephanie R Morain, Abigail Brickler, Joseph Ali, Patricia Pearl O'Rourke, Kayte Spector-Bagdady, Benjamin Wilfond, Vasiliki Rahimzadeh, Caleigh Propes, Kayla Mehl, David Wendler

Center for Medical Ethics and Health Policy Staff Publications

A growing literature has explored the ethical obligations and current practices related to sharing aggregate results with research participants. However, no prior work has examined these issues in the context of pragmatic clinical trials. Several characteristics of pragmatic clinical trials may complicate both the ethics and the logistics of sharing aggregate results. Among these characteristics include that pragmatic clinical trials may affect the rights, welfare, and interests of not only patient-subjects but also clinicians, meaning that results may be owed to a broader range of groups than typically considered in other research contexts. In addition, some pragmatic clinical trials are …

Otolith And Genomic Data Reveal Temporal Insights Into Stocking Across A Large River Basin In A Mobile, Long-Lived Australian Freshwater Fish Species, Katherine A Harrisson, Luciano B Beheregaray, Christopher M Bice, Emily J Booth, Chris J Brauer, Gavin L Butler, David Dawson, Olga Dudchenko, Benjamin G Fanson, Graeme Hackett, Annique Harris, Matthew J Jones, Parwinder Kaur, Wayne M Koster, Kyne Krusic-Golub, Erez Lieberman Aiden, Jason A Lieschke, Jarod Lyon, John R Morrongiello, Nicholas P Murphy, James O'Dwyer, Scott M C Raymond, Meaghan L Rourke, Arron Strawbridge, Jason D Thiem, Zeb Tonkin, Jian D L Yen, Brenton P Zampatti

Staff and Researcher Publications

Freshwater ecosystems and their biota are under increasing pressure from anthropogenic stressors. In response to declining fish stocks, hatchery and stocking programmes are widely implemented as core components of restoration and management strategies, with positive outcomes for some wild populations. Despite this, stocking remains contentious due to potential genetic and ecological risks to wild populations. Monitoring and evaluation of stocking outcomes are critical to ensuring the long-term sustainability of wild populations, but identification of stocked individuals post-release remains a key challenge, particularly for mobile species. In this study, we combined otolith (natal origin and age) and genomic data to identify …

Gastroesophageal Reflux And Gastrointestinal Symptoms After Metabolic And Bariatric Surgery In Adolescents: An 8-Year Follow-Up Analysis, John B Rode, Suhail A Zeineddin, Jane C Khoury, Todd M Jenkins, Stephanie R Sisley, Anita P Courcoulas, Justin R Ryder, Marc P Michalsky, Thomas H Inge

Children’s Nutrition Research Center Staff Publications

Importance: Vertical sleeve gastrectomy (VSG) and Roux-en-Y gastric bypass (RYGB) are the most commonly performed metabolic and bariatric surgery (MBS) procedures in adolescents and adults. Despite their safety and effectiveness, there is concern over postoperative gastrointestinal symptoms (GIS), especially gastroesophageal reflux symptoms (GERS), in those undergoing VSG.

Objective: To evaluate the long-term prevalence of GIS in adolescents who underwent RYGB or VSG.

Design, setting, and participants: This is a prospective, multicenter, observational cohort study at five academic referral centers in the United States. Patients were enrolled from February 28, 2007, through December 30, 2011. The analysis included 228 adolescents: 161 …

Glucose Uptake In Pigment Glia Suppresses Tau-Induced Inflammation And Photoreceptor Degeneration, Mikiko Oka, Sho Nakajima, Emiko Suzuki, Shinya Yamamoto, Kanae Ando

Duncan NRI Faculty and Staff Publications

Brain inflammation contributes to the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease (AD). Glucose hypometabolism and glial activation are pathological features seen in AD brains; however, the connection between the two is not fully understood. Using a Drosophila model of AD, we identified that glucose metabolism in glia plays a critical role in neuroinflammation under disease conditions. Expression of human MATP (hereafter referred to as Tau) in the retinal cells, including photoreceptor neurons and pigment glia, causes photoreceptor degeneration accompanied by the formation of dark-stained round inclusion-like structures and swelling of the lamina cortex. We found that inclusion-like structures …

A Novel Method For Semi-Quantitative Detection Of Hpv16 And Hpv18 Mrna With A Low-Cost, Open-Source Fluorimeter, Kathryn A Kundrod, Mary E Natoli, Chelsey A Smith, Jackson B Coole, Megan M Chang, Emilie Newsham Novak, Elizabeth Chiao, Elizabeth A Stier, Jane R Montealegre, Michael E Scheurer, Philip E Castle, Kathleen M Schmeler, Rebecca R Richards-Kortum

Center for Medical Ethics and Health Policy Staff Publications

Despite global calls to eliminate cervical cancer, rates of cervical cancer incidence and mortality remain high in resource-limited settings, where it is challenging to implement and sustain screening, diagnosis, and treatment programs. The presence of high-risk HPV mRNA in cervical cells is a sensitive and specific biomarker of cervical precancer. Yet, current testing methods are too costly and complex for use in resource-limited settings. Here, we present a novel method for semi-quantitative detection of HPV16 and HPV18 mRNA with minimal infrastructure requirements. The assay relies on isothermal reverse transcription recombinase polymerase amplification (RT-RPA) with real-time fluorescence readout, demonstrated on rugged, …

Dysregulation Of Mirna Expression And Excitation In Mef2c Autism Patient Hipsc-Neurons And Cerebral Organoids, Dorit Trudler, Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Melissa Luevanos, Sergio Labra, Titas Grabauskas, Sarah Moore Noveral, Mayu Teranaka, Emily Schahrer, Nima Dolatabadi, Clare Bakker, Kevin Lopez, Abdullah Sultan, Parth Patel, Agnes Chan, Yongwook Choi, Riki Kawaguchi, Pawel Stankiewicz, Ivan Garcia-Bassets, Piotr Kozbial, Michael G Rosenfeld, Nobuki Nakanishi, Daniel H Geschwind, Shing Fai Chan, Wei Lin, Nicholas J Schork, Rajesh Ambasudhan, Stuart A Lipton

Faculty, Staff and Students Publications

MEF2C is a critical transcription factor in neurodevelopment, whose loss-of-function mutation in humans results in MEF2C haploinsufficiency syndrome (MHS), a severe form of autism spectrum disorder (ASD)/intellectual disability (ID). Despite prior animal studies of MEF2C heterozygosity to mimic MHS, MHS-specific mutations have not been investigated previously, particularly in a human context as hiPSCs afford. Here, for the first time, we use patient hiPSC-derived cerebrocortical neurons and cerebral organoids to characterize MHS deficits. Unexpectedly, we found that decreased neurogenesis was accompanied by activation of a micro-(mi)RNA-mediated gliogenesis pathway. We also demonstrate network-level hyperexcitability in MHS neurons, as evidenced by excessive synaptic …

Kaat Koort: Study Protocol For A Pragmatic Randomized Controlled Trial Of A Multifactorial, Multidisciplinary Aboriginal Health Practitioner-Led Aboriginal Dementia Prevention Intervention, Carrington C.J. Shepherd, Melissa A. Dunham, Lina Gubhaju, Karen E. Lamb, Digsu N. Koye, Phoebe Fitzpatrick, Emily Banks, Kaarin J. Anstey, Melinda Carrington, Daniel Mcaullay, Ofra Kalter-Leibovici, Grace Joshy, Lesley Nelson, Jason Agostino, Ellie Paige, Kathleen Abu-Saad, Elise Alexander, Rona Macniven, Kelsey Griffen, Fiona Collins, Salena Linforth-Milham, Dolores Gilbert, Cindy Prior, Sadia Rind, Richelle Douglas, Sandra Eades

Research outputs 2022 to 2026

Background: Limited available data indicate that dementia prevalence rates among Aboriginal and Torres Strait Islander (hereafter Aboriginal) peoples are 3–5 times higher than the overall Australian population. Effective, pragmatic and scalable interventions are urgently required to address this disproportionate burden of dementia in Aboriginal populations. Methods: Kaat Koort is a pragmatic two-arm parallel-group randomized controlled trial which will recruit a sample of 354 participants from two Aboriginal community-controlled health services in the south-west of Western Australia. Eligible participants are aged 35–60 years with risk factors for cardiovascular disease. Participants will be randomized in a 1:1 ratio to receive either a …

Opportunistic Measurement Of Sagittal Abdominal Diameter With Bone Densitometry Predicts Death And Cardiovascular Events, William D. Leslie, Fatima Zarzour, Lisa M. Lix, Neil Binkley, Joshua R. Lewis, John T. Schousboe

Research outputs 2022 to 2026

Supine sagittal abdominal diameter (SAD), also known as abdominal height, has been proposed as a simple measure for assessing abdominal adiposity. We aimed to determine whether SAD from DXA performed for osteoporosis assessment predicts major adverse cardiovascular events (MACEs) using the population-based DXA registry for the Province of Manitoba, Canada. The study population comprised 72 974 individuals aged 40 yr and older with baseline DXA assessment between February 1999 and March 2018. Incident MACE (composite of all-cause mortality, acute myocardial infarction [MI], non-hemorrhagic stroke) was ascertained from linked healthcare databases. During mean 8.4 yr follow-up (611 862 person-years), 14 457 …

Prevalence Of Autoimmune Diabetes Among Aboriginal Australians: The Fremantle Diabetes Study Phase Ii, Timothy M.E. Davis, Christine S. Bundell, Stephen Chubb, Daniel Mcaullay, Wendy A. Davis

Research outputs 2022 to 2026

The prevalence of autoimmune diabetes was assessed in 113 indigenous and 1555 non-indigenous participants in the Fremantle Diabetes Study Phase II. Both type 1 diabetes (3.5% vs. 8.2%) and latent autoimmune diabetes of adults diagnosed based on glutamic acid decarboxylase antibody (GADA) positivity (1.0% vs. 5.7%) were lower in Aboriginal participants (P = 0.101 and 0.039 respectively). Six Aboriginals with GADA-negative type 2 diabetes were positive for tyrosine phosphatase-related islet antigen 2 antibodies but did not exhibit relative insulin deficiency.

Resting Energy Expenditure And Metabolic Features In Children With Septo-Optic Dysplasia, David J. Cullingford, Jacqueline A. Curran, Mary B. Abraham, Aris Siafarikas, A. Marie Blackmore, Jenny Downs, Catherine S.Y. Choong

Research outputs 2022 to 2026

Context: Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD. Objective: To characterize REE and other metabolic features in patients with SOD and evaluate relationships with elevated body mass index (BMI). Methods: Children with SOD above 5 years of age attending Perth Children's Hospital participated. A CosMED Q-NRG indirect calorimeter was used to calculate mean measure REE …

Confirming The Validity And Reliability Of The Placement Evaluation Tool To Evaluate Midwifery Practice Placements (Pet-Midwifery), Fiona Bogossian, Dianne Bloxsome, Angela Brown, Robyn Cant, Susan Hunter, Lauren Kearney, Lesley Kuliukas, Carolyn Ross, Simon Cooper

Research outputs 2022 to 2026

Problem: In Australia, program accreditation requirements include that education providers monitor and evaluate teaching and learning environments and provide evidence of outcomes being used to inform program quality improvement. Yet, closing this loop has proven challenging. Background: The Australian National Placement Evaluation Centre (NPEC) functions to measure the quality of placements through student evaluations. One measure the Placement Evaluation Tool (PET) had not been tested in midwifery student cohorts. Aim: To confirm the validity and reliability of the Placement Evaluation Tool (PET) for midwifery. Design: Survey instrument development. Methods: A three-phase, sequential study involving seven Australian universities and students enrolled …