Medicine and Health Sciences Commons^™

Lessons Learned From The Covid-19 Pandemic Crisis Management In The Gaza Strip: A Qualitative Study., Belal Aljamal

Journal of the Arab American University مجلة الجامعة العربية الامريكية للبحوث

Aims of the study: The main aim of this study was to discover the lessons learned from the COVID-19 pandemic crisis management from health policymakers' perspective in the Gaza Strip. Methods: The researcher used a qualitative design, targeting 25health policymakers using a purposeful sampling technique and face-to-face semi-structured interviews to collect data. To analyze the interview data, the directed qualitative content analysis approach was used.

Results: All interviewees agreed that the Palestinian Ministry of Health (MoH) managed the COVID-19pandemic well despite the insufficient resources and lack of experience. More specifically, the average of most participants’ assessments of Palestinian MoH “Preparedness” …

The Impact Of Adopting Unicef Growth And Development Modules In Enhancing Nursing Students' Knowledge: A Qualitative Study, Yousef Eljeesh, Mahmoud Ayash

Journal of the Arab American University مجلة الجامعة العربية الامريكية للبحوث

Background: The growth and development phase are an essential and critical period of human life, especially in the early stages. It was defined by most professionals as the interval from conception to eight years of age. This interval is vital for brain growth. In addition, these developmental years have a significant and lifelong impact on children. Thus, almost all children in these years need to be well cared. Aim: The study aimed to assess the impact of adopting UNICEF modules on nursing students' knowledge about growth and development concepts. Design: A qualitative study design was used to conduct the study. …

The Impact Of Fibular Fixation Method On Pilon Fracture Healing., Anthony Perugini, Scott Hyland, James Iandoli, Zachary Hill, John Peabody, Daniel Degenova, Mallory Faherty, Benjamin Taylor

OhioHealth Research Institute Articles

No abstract provided.

Risk-Stratified Venous Thromboembolism Chemoprophylaxis After Total Joint Arthroplasty: Evaluation Of An Institutional Approach., Sara J Hyland, Maria J Fada, Michelle Secic, Robert A Fada, Marie M Lockhart, Richard H Parrish

OhioHealth Research Institute Articles

No abstract provided.

The Impact Of Self-Management Programming On Gifted Student Perceptions Of Sleep In A Residential Setting, Katie Berger

Staff Publications & Research

Insufficient sleep among high school students has become a pressing concern for its detrimental effects on academic performance, physical health, and mental wellness. This concern is amplified for students living away from their parents in a boarding school setting. The purpose of this action research study was to investigate and improve the sleep experience of gifted secondary students who live with their peers in a residential setting. Two cycles of data collection occurred. Participants in Cycle 1 were gifted secondary students who were enrolled at a residential school, as well as counselors and residential staff employed at the same institution. …

The Pulse - January 9, 2025, Unm Hsc Marketing & Communications

The Pulse

Weekly newsletter from the UNM Health Sciences Center.

Optimizing Long Covid Outcomes: Insights From A Survey Of U.S. Occupational Therapists, Malachy J. Clancy, Phd, Otr/L, Bcpr, Robert Dekerlegand, Pt, Mpt, Phd, Ccs

Department of Occupational Therapy Posters and Presentations

Background & Purpose

• Upwards of 15% of individuals infected with SARS-CoV-2 may develop “Long COVID” with persistent physical, cognitive, and/or mental symptoms potentially amendable to occupational therapy.
• Variability exists in the rehabilitation approach for individuals receiving occupational therapy for this novel condition.
• Clinical practice guidelines (CPGs) and other evidence-based resources exist to help standardized rehabilitation; however, it is unknown if occupational therapists (OTs) are aware of these resources and applying them in the management of individuals with Long COVID.
• We surveyed OTs in the contiguous United States (U.S.) to explore their awareness and application of Long COVID CPGs along with …

02-06-25 Hsc Committee Meeting Notice, Patricia Serna

HSC Committee (A subcommittee of the UNM Board of Regents)

02-06-25 HSC Committee Meeting Notice

Tdp43 Autoregulation Gives Rise To Dominant Negative Isoforms That Are Tightly Controlled By Transcriptional And Post-Translational Mechanisms, Megan M. Dykstra, Kaitlin Weskamp, Nicolás B. Gómez, Jacob Waksmacki, Elizabeth Tank, M. Rebecca Glineburg, Allison Snyder, Emile Pinarbasi, Michael Bekier, Xingli Li, Morgan R. Miller, Jen Bai, Shameena Shahzad, Neha Nedumaran, Clare Wieland, Corey Stewart, Sydney Willey, Nikolas Grotewold, Jonathon Mcbride, John J. Moran, Aditya V. Suryakumar, Michael Lucas, Peter M. Tessier, Michael Ward, Peter K. Todd, Sami J. Barmada

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

The nuclear RNA-binding protein TDP43 is integrally involved in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Previous studies uncovered N-terminal TDP43 isoforms that are predominantly cytosolic in localization, prone to aggregation, and enriched in susceptible spinal motor neurons. In healthy cells, however, these shortened (s)TDP43 isoforms are difficult to detect in comparison to full-length (fl)TDP43, raising questions regarding their origin and selective regulation. Here, we show that sTDP43 is created as a by-product of TDP43 autoregulation and cleared by nonsense-mediated RNA decay (NMD). sTDP43-encoding transcripts that escape NMD are rapidly degraded post-translationally via the proteasome …

Medical School Newsletter Watercooler Newsletter - January 9, 2025, Lindsay Hughes

Watercooler Newsletter

This is the Thursday, January 9, 2025 edition of the Frederick P. Whiddon College of Medicine's newsletter -- Watercooler.

Contents include:

• OB/GYN book club to discuss 'Reproduction on the Reservation'

Brain Delivery Of Erythropoietin Results In A Significant Reduction Of Brain Aβ And Spatial Memory Deficits In The App Knock-In Mouse Model, Rudy Tieu Chang, Devaraj V. Chandrashekar, Grace-Ann Chuli Roules, Emi Iwasaki, Nataraj Jagadeesan, Rachita K. Sumbria

Pharmacy Faculty Articles and Research

Background

Although novel treatments for Alzheimer’s disease (AD) have begun to show modest therapeutic effects, agents that target hallmark AD pathology and offer neuroprotection are desired. Erythropoietin (EPO) is a glycoprotein hormone with neuroprotective effects but is faced with challenges including limited brain uptake and increased hematopoietic side effects with long-term dosing. Therefore, EPO has been modified and bound to a chimeric transferrin receptor monoclonal antibody (cTfRMAb); the latter shuttles EPO past the blood-brain barrier (BBB) into brain parenchyma and reduces its plasma exposure and potential for side effects. Our study sought to characterize the safety and pharmacokinetics (PK) of …

Microrna 133a Regulates Squalene Epoxidase Expression In Colorectal Cancer Cells To Control Cell Proliferation And Cholesterol Production, Ji Su Mo, Santosh Lamichhane, Grinsun Sharma, Soo Cheon Chae

School of Medicine Faculty Publications

Background/Objectives: Colorectal cancer (CRC) is one of the most common cancers worldwide, with high incidence and mortality rates. MicroRNAs are endogenous and non-coding RNAs that play a pivotal role in the development and progression of various cancers by targeting specific genes. Previously, we identified MIR133A to be significantly decreased in human CRC tissues. This study aims to identify the relationship with SQLE, one of the candidate target genes of MIR133A, and study their interaction in CRC cells. Methods: Through the luciferase reporter assay, quantitative RT-PCR (qRT-PCR), and Western blot analysis. Results: We identified SQLE as a direct target gene of …

Perinuclear Organelle Trauma At The Nexus Of Cardiomyopathy Pathogenesis Arising From Loss Of Function Lmna Mutation, Jason C. Choi

Center for Translational Medicine Faculty Papers

Over the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle damage has garnered wide acceptance, the molecular sequalae provoked by the NE damage and how they underlie disease pathogenesis such as cardiomyopathy (LMNA cardiomyopathy) remain poorly understood. We recently shed light on one such consequence, by employing a cardiomyocyte-specific Lmna deletion in vivo in the adult heart. We observed extensive NE perturbations prior to cardiac function deterioration with collateral damage in the …

The Effect Of Transcutaneous Auricular Vagus Nerve Stimulation On Cardiovascular Function In Subarachnoid Hemorrhage Patients: A Randomized Trial, Gansheng Tan, Anna L Huguenard, Kara M Donovan, Phillip Demarest, Xiaoxuan Liu, Ziwei Li, Markus Adamek, Kory Lavine, Ananthv K Vellimana, Terrance T Kummer, Joshua W Osbun, Gregory J Zipfel, Peter Brunner, Eric C Leuthardt

2020-Current year OA Pubs

BACKGROUND: Subarachnoid hemorrhage (SAH) is characterized by intense central inflammation, leading to substantial post-hemorrhagic complications such as vasospasm and delayed cerebral ischemia. Given the anti-inflammatory effect of transcutaneous auricular vagus nerve stimulation (taVNS) and its ability to promote brain plasticity, taVNS has emerged as a promising therapeutic option for SAH patients. However, the effects of taVNS on cardiovascular dynamics in critically ill patients, like those with SAH, have not yet been investigated. Given the association between cardiac complications and elevated risk of poor clinical outcomes after SAH, it is essential to characterize the cardiovascular effects of taVNS to ensure this …

Temporal Trends And Patterns For Early- And Late-Onset Adult Liver Cancer Incidence Vary By Race/Ethnicity, Subsite, And Histologic Type In The United States From 2000 To 2019, Mei-Chin Hsieh, Kendra L. Ratnapradipa, Laura Rozek, Shengdi Wen, Yu Wen Chiu, Edward S. Peters

School of Public Health Faculty Publications

Purpose: To examine incidence trends and patterns for early- and late-onset liver cancer. Methods: Liver and intrahepatic bile duct (IBD) cancers diagnosed between 2000 and 2019 were acquired from 22 SEER registries. Variables included early-onset (20–49) vs. late-onset (50+), anatomic subsite, histologic type (hepatocellular carcinoma [HCC] and IBD cholangiocarcinoma [ICC]), sex, and race/ethnicity. Age-standardized incidence rates were calculated using SEER*Stat. Jointpoint regression analysis was employed to estimate the annual percent change (APC) and the average APC (AAPC) with pairwise comparisons for trend by sex and by race/ethnicity stratified by age and subsite. Results: Liver cancer incidence decreased among early-onset (AAPC …

Longitudinal Retrospective Study Of A Wearable Nmes System To Determine The Effects On Arm Usage In Hemiparetic And Hemiplegic Patients, Nipun Chopra, Philip Muccio, Rafik Salama, Josh Schueller, Davis Durrant, Edward Dabrowski

Psychology and Neuroscience Faculty Publications

Brain disorders such as traumatic brain injury (TBI), stroke, cerebral palsy (CP), and surgical interventions can result in aberrant motor function in the contralateral limbs, resulting in paralysis, weakness, and/or spasticity. It is known that, in the short term, neuromuscular electrical stimulation (NMES), the application of low-level electrical currents to motor nerves to induce muscle contractions in paralyzed muscles, can stimulate affected muscle groups and increase arm mobility. However, there remains a paucity of longitudinal evidence examining NMES-mediated improvements of arm usage.

Objective

The aim of this study was to determine the effectiveness of a long-term BioSleeve intervention on the …

Author Correction: Best Practice Advice For Asthma Exacerbation Prevention And Management In Primary Care: An International Expert Consensus, Neil Skolnik, Barbara P. Yawn, Jaime Correia De Sousa, María Mar Martínez Vázquez, Amanda Barnard, Wendy L. Wright, Austin Ulrich, Tonya Winders, Stephen Brunton

Department of Family & Community Medicine Faculty Papers

No abstract provided.

Pattern Integration And Differentiation: Dual Process Model Of Episodic Memory, Hallvard Røe Evensmoen, Lars M. Rimol, Henning Stople Rise, Tor Ivar Hansen, Hamed Nili, Anderson M. Winkler, Asta K. Håberg

School of Medicine Publications

The role of precise timing in episodic memory remains obscure. We showed 139 participants episodes consisting of objects, and tested subsequent memory for the precise timing and order of the objects and episodes. Temporal compression of the episode enhanced memory for relative but not absolute timing of the objects’ presentation and their order. Conversely, temporal expansion between neighboring episodes was associated with successful memory for episode order. fMRI in 36 participants revealed that temporal compression of the episode was associated with more similar activation patterns within episodes in several brain regions including the posterior hippocampus. However, the activation pattern in …

Genome-Wide Association Study Reveals Shared And Distinct Genetic Architecture Of Fatty Acids And Oxylipins In The Hispanic Community Health Study/Study Of Latinos, Carolina G Downie, Heather M Highland, Mona Alotaibi, Barrett M Welch, Annie Green Howard, Susan Cheng, Nick Miller, Mohit Jain, Robert C Kaplan, Adam G Lilly, Tao Long, Tamar Sofer, Bharat Thyagarajan, Bing Yu, Kari E North, Christy L Avery

Faculty, Staff and Student Publications

Bioactive fatty acid-derived oxylipin molecules play key roles mediating inflammation and oxidative stress. Circulating levels of fatty acids and oxylipins are influenced by environmental and genetic factors; characterizing the genetic architecture of bioactive lipids could yield new insights into underlying biology. We performed a genome-wide association study (GWAS) of 81 fatty acids and oxylipins in 11,584 Hispanic Community Health Study/Study of Latinos (HCHS/SOL) participants with genetic and lipidomic data measured at study baseline (58.6% female, mean age = 46.1 years (standard deviation 13.8)). Additionally, given the effects of central obesity on inflammation, we examined interactions with waist circumference using two-degree-of-freedom …

Nourishing Change In Houston, Texas: Exploring Grocery Shopping Behaviours And Fruit And Vegetable Consumption Among Low-Income Families In The Brighter Bites Program, Victoria Kwentua, Allison Marshall, Ru-Jye Chuang, Jessica Chen, Christine Markham, Mallika Mathur, Mike Pomeroy, Megan Hall, Shreela Sharma

Faculty, Staff and Student Publications

OBJECTIVE: We qualitatively examine the grocery shopping behaviours and fruit and vegetable consumption of low-income families participating in the Brighter Bites program in Houston, Texas.

DESIGN: We used a single-group observational study design. We used (1) purposive sampling of schools and (2) convenience sampling of parents/caregivers to recruit participants. Research staff conducted three face-to-face qualitative focus groups in Spanish and English. Transcripts were coded using deductive and inductive reasoning.

SETTING: Three elementary schools serving low-income families in Houston, Texas, in February-May of 2022.

PARTICIPANTS: Brighter Bites parents/caregivers from the 2021-2022 school year.

RESULTS: Three primary themes emerged: (1) child involvement …

Neoadjuvant Or Concurrent Atezolizumab With Chemoradiation For Locally Advanced Cervical Cancer: A Randomized Phase I Trial, Jyoti Mayadev, Dmitriy Zamarin, Wei Deng, Heather A. Lankes, Giulio Pesci, Hayeon Kim, Junzo P. Chino, Barbara Banbury, Ned Sherry, Elad Sharon, Sharad A. Ghamande, Catherine Ferguson, Loren Mell, Laura Holman, Cara Mathews, David O'Malley, Alexander Olawaiye, Elizabeth Hopp, Charles Leath, Larry Copeland, Robert Mannel, Roisin O'Cearbhaill, Carol Aghajanian, Russell J. Schilder

Department of Medical Oncology Faculty Papers

Combined immune checkpoint blockade (ICB) and chemoradiation (CRT) is approved in patients with locally advanced cervical cancer (LACC) but optimal sequencing of CRT and ICB is unknown. NRG-GY017 (NCT03738228) was a randomized phase I trial of atezolizumab (anti-PD-L1) neoadjuvant and concurrent with CRT (Arm A) vs. concurrent with CRT (Arm B) in patients with high-risk node-positive LACC. The primary endpoint was the fraction of expanded tumor-associated T-cell receptor (TCR) clones in blood at day 21 as a surrogate measure of anti-tumor immune response. Secondary objectives were safety and feasibility, 2-year disease-free survival (DFS), and predictive value of PD-L1 expression. Forty …

Functional Characterization Of Qt Interval Associated Scn5a Enhancer Variants Identify Combined Additive Effects, Lavanya Gunamalai, Parul Singh, Brian Berg, Leilei Shi, Ernesto Sanchez, Alexa Smith, Ghislain Breton, Mark T Bedford, Darius Balciunas, Ashish Kapoor

Faculty, Staff and Student Publications

Several empirical and theoretical studies suggest the presence of multiple enhancers per gene that collectively regulate gene expression, and that common sequence variation impacting on the activities of these enhancers is a major source of inter-individual gene expression variability. However, for the vast majority of genes, enhancers and the underlying regulatory variation remains unknown. Even for the genes with well-characterized enhancers, the nature of the combined effects from multiple enhancers and their variants, when known, on gene expression regulation remains unexplored. Here, we have evaluated the combined effects from five SCN5A enhancers and their regulatory variants that are known to …

A Phase Ia Study Of A Novel Anti-Her2 Antibody-Drug Conjugate Gq1001 In Patients With Previously Treated Her2 Positive Advanced Solid Tumors, Chenfei Zhou, Bin Wang, Christina Teng, Hui Yang, Sarina A Piha-Paul, Gary Richardson, Ashanya Malalasekera, Yajun Sun, Wei Wang, Jieqiong Liu, Yan Shi, Xianbao Zhan, Charlotte Lemech

Faculty, Staff and Student Publications

Background: A novel anti-human epidermal growth factor receptor 2 (HER2) antibody-drug conjugate (ADC) GQ1001 was assessed in patients with previously treated HER2 positive advanced solid tumors in a global multi-center phase Ia dose escalation trial.

Methods: In this phase Ia trial, a modified 3 + 3 study design was adopted during dose escalation phase. Eligible patients were enrolled, and GQ1001 monotherapy was administered intravenously every 3 weeks. The starting dose was 1.2 mg/kg, followed by 2.4, 3.6, 4.8, 6.0, 7.2 and 8.4 mg/kg. Extra patients were enrolled into 6.0, 7.2, and 8.4 mg/kg cohorts as dose expansion phase. The primary …

Alleviation Of Liver Fibrosis By Inhibiting A Non-Canonical Atf4-Regulated Enhancer Program In Hepatic Stellate Cells, Li-Xian Yang, Chuangye Qi, Si Lu, Xiang-Shi Ye, Parnaz Merikhian, Du-Yu Zhang, Tao Yao, Jiang-Sha Zhao, Ying Wu, Yongshi Jia, Bo Shan, Jinghai Chen, Xiaozhou Mou, Jia You, Wenbo Li, Yu-Xiong Feng

Faculty, Staff and Student Publications

Liver fibrosis is a critical liver disease that can progress to more severe manifestations, such as cirrhosis, yet no effective targeted therapies are available. Here, we identify that ATF4, a master transcription factor in ER stress response, promotes liver fibrosis by facilitating a stress response-independent epigenetic program in hepatic stellate cells (HSCs). Unlike its canonical role in regulating UPR genes during ER stress, ATF4 activates epithelial-mesenchymal transition (EMT) gene transcription under fibrogenic conditions. HSC-specific depletion of ATF4 suppresses liver fibrosis in vivo. Mechanistically, TGFβ resets ATF4 to orchestrate a unique enhancer program for the transcriptional activation of pro-fibrotic EMT genes. …

Building Toward Population Reserve And A Critical Positive Psychiatry, Peter J. Whitehouse

Faculty Scholarship

No abstract provided.

A Β-Hydroxybutyrate Shunt Pathway Generates Anti-Obesity Ketone Metabolites, Maria Dolores Moya-Garzon, Mengjie Wang, Veronica L Li, Xuchao Lyu, Wei Wei, Alan Sheng-Hwa Tung, Steffen H Raun, Meng Zhao, Laetitia Coassolo, Hashim Islam, Barbara Oliveira, Yuqin Dai, Jan Spaas, Antonio Delgado-Gonzalez, Kenyi Donoso, Aurora Alvarez-Buylla, Francisco Franco-Montalban, Anudari Letian, Catherine P Ward, Lichao Liu, Katrin J Svensson, Emily L Goldberg, Christopher D Gardner, Jonathan P Little, Steven M Banik, Yong Xu, Jonathan Z Long

Children’s Nutrition Research Center Staff Publications

β-Hydroxybutyrate (BHB) is an abundant ketone body. To date, all known pathways of BHB metabolism involve the interconversion of BHB and primary energy intermediates. Here, we identify a previously undescribed BHB secondary metabolic pathway via CNDP2-dependent enzymatic conjugation of BHB and free amino acids. This BHB shunt pathway generates a family of anti-obesity ketone metabolites, the BHB-amino acids. Genetic ablation of CNDP2 in mice eliminates tissue amino acid BHB-ylation activity and reduces BHB-amino acid levels. The most abundant BHB-amino acid, BHB-Phe, is a ketosis-inducible congener of Lac-Phe that activates hypothalamic and brainstem neurons and suppresses feeding. Conversely, CNDP2-KO mice exhibit …

Advancing Monogenic Diabetes Research And Clinical Care By Creating A Data Commons: The Precision Diabetes Consortium (Predict), Michael E Mccullough, Lisa R Letourneau-Freiberg, Rochelle N Naylor, Siri Atma W Greeley, David T Broome, Mustafa Tosur, Raymond J Kreienkamp, Erin Cobry, Neda Rasouli, Toni I Pollin, Miriam S Udler, Liana K Billings, Cyrus Desouza, Carmella Evans-Molina, Suzi Birz, Brian Furner, Michael Watkins, Kaitlyn Ott, Samuel L Volchenboum, Louis H Philipson

Faculty, Staff and Students Publications

Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT). Following the D4CG model, PREDICT has successfully established a multicenter MDM data commons. PREDICT has created a consensus data dictionary that will be utilized to address critical gaps in …

Molecular Logic For Cellular Specializations That Initiate The Auditory Parallel Processing Pathways, Junzhan Jing, Ming Hu, Tenzin Ngodup, Qianqian Ma, Shu-Ning Natalie Lau, M Cecilia Ljungberg, Matthew J Mcginley, Laurence O Trussell, Xiaolong Jiang

Faculty, Staff and Students Publications

The cochlear nuclear complex (CN), the starting point for all central auditory processing, encompasses a suite of neuronal cell types highly specialized for neural coding of acoustic signals. However, the molecular logic governing these specializations remains unknown. By combining single-nucleus RNA sequencing and Patch-seq analysis, we reveal a set of transcriptionally distinct cell populations encompassing all previously observed types and discover multiple hitherto unknown subtypes with anatomical and physiological identity. The resulting comprehensive cell-type taxonomy reconciles anatomical position, morphological, physiological, and molecular criteria, enabling the determination of the molecular basis of the specialized cellular phenotypes in the CN. In particular, …

Bone Marrow Transplantation Reverses Metabolic Alterations In Multiple Sulfatase Deficiency: A Case Series, Nishitha R Pillai, Ning Liu, Xiyuan Li, Xiqi Li, Rebecca Ahrens-Nicklas, Laura Adang, Julie B Eisengart, Grace Bronken, Ashish Gupta, Troy C Lund, Chester B Whitley, Sarah H Elsea, Paul J Orchard

Faculty, Staff and Students Publications

BACKGROUND: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD. Other than symptomatic treatment, no curative therapy exists as of yet for MSD. Eight out of these 17 sulfatases are primarily localized in the lysosome.

METHODS: Two siblings with attenuated MSD underwent hematopoietic cell transplantation (HCT), evaluating the possibility of lysosomal enzymatic cross-correction from …

Mga-Related Syndrome: A Proposed Novel Disorder, Bobbi Mcgivern, Michelle M Morrow, Erin Torti, Kirsty Mcwalter, Ingrid M Wentzensen, Kristin G Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

Faculty, Staff and Students Publications

MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes, including neurodevelopmental disorders, congenital heart disease, and early-onset Parkinson's disease. Here, we describe the clinical phenotype of individuals with de novo, heterozygous predicted loss-of-function variants in MGA, suggesting a unique disorder involving both neurodevelopmental and congenital anomalies. In addition to developmental delays, certain congenital anomalies were present in all individuals in this cohort including cardiac anomalies, male genital malformations, and craniofacial dysmorphisms. Additional findings seen in multiple individuals in this …