Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim

School of Medicine Faculty Publications

Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes. Pathogenic variants in these genes are linked to human diseases, highlighting the importance of each biosynthesis step. PGAP2 stands out among these genes due to its association with an expanded clinical spectrum of neurodevelopmental disorder (NDD) phenotypes with biallelic pathogenic variants. We present four patients from two families, one consanguineous and the other nonconsanguineous, each displaying distinct clinical presentations, including intellectual disability, hyperphosphatasia, …

Novel Techniques In Imaging Congenital Heart Disease: Jacc Scientific Statement, Ritu Sachdeva, Aimee K Armstrong, Rima Arnaout, Lars Grosse-Wortmann, B Kelly Han, Luc Mertens, Ryan A Moore, Laura J Olivieri, Anitha Parthiban, Andrew J Powell

Faculty, Staff and Students Publications

Recent years have witnessed exponential growth in cardiac imaging technologies, allowing better visualization of complex cardiac anatomy and improved assessment of physiology. These advances have become increasingly important as more complex surgical and catheter-based procedures are evolving to address the needs of a growing congenital heart disease population. This state-of-the-art review presents advances in echocardiography, cardiac magnetic resonance, cardiac computed tomography, invasive angiography, 3-dimensional modeling, and digital twin technology. The paper also highlights the integration of artificial intelligence with imaging technology. While some techniques are in their infancy and need further refinement, others have found their way into clinical workflow …

Does The Central Nasolabial Aesthetic Subunitimprove After Secondary Alveolar Bone Grafting? A Three-Dimensiona Lmorphometric Study, Peter Larson Miller, Anand R. Kumar

South Atlantic Division GME Research Day 2024

No abstract provided.

Sequestering The Diagnosis Of Extra Lobar Bronchopulmonary Sequestration: A Case Report, Tanner Fincher, Reese M. Groover, Amanda Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Nas Associated With Antenatal Tianeptine Exposure: A Case Report, Francesca Damus, Kaleb Freeman, Candace Murbach, Palmer Johnston

South Atlantic Division GME Research Day 2024

No abstract provided.

Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee

Gulf Coast Division GME Research Symposium 2024

No abstract provided.

Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.

OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.

DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.

SETTING: We used existing data …

Ominous Mediastinal Mass Revealing Ectopic Thyroid, Cameron Summers, Gabriella Morey, Susana Ferra

East Florida Division GME Research Day 2024

Introduction: This report describes an asymptomatic 63-year-old female with a right paratracheal mass compressing and displacing the trachea to the left. Additionally, the epidemiology, clinical manifestation, diagnosis, and management of mediastinal ectopic thyroids are discussed.

Case Summary: A 63 y/o female with history of hypertension, myasthenia gravis and Type 2 diabetes mellitus had a hospitalization for pneumonia and was incidentally found via chest CT scan with a right paratracheal soft tissue mass with few coarse calcifications measuring 7.5 cm displacing the trachea to the left without compromise of the lumen. She was referred to a local cardiothoracic surgeon and underwent …

Biallelic Inheritance Of Autosomal Dominant Polycystic Kidney Disease Gene Mutations And The Veo Spectrum Of Fetal And Neonatal Phenotypes: A Case Series, Mikalah Maury, Caitlin Turner, Andrew Royek, Eleanor Stark, Leyla Nielsen, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

Wilson’S Disease: A Late-Onset Presentation Of Polyneuropathy, He Wang, Austin Goff, Nathan Lowe, Sanaz Siran

Far West Division GME Research Day 2024

No abstract provided.

A Unique Case Of Darier's Disease With Perioral Cutaneous Cobblestoning Treated With Dupilumab, Sara Holt, Sherlyn Saju, Richard Miller

West Florida Division GME Research Day 2024

No abstract provided.

Type Iv Ehlers-Danlos Syndrome And A Fragile Uterus, Alyssa M. Moffitt, Cullen D. Smith, Alicia Farris, William Osborne, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

A Case Of Meckel's Diverticulum Enterolith Causing A Small Bowel Obstruction, Megan Bedard, Alexandra Moody, Emmett Mcguire

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

Thyroid Hemiagenesis Associated With Oncocytic Type Follicular Adenoma With Kras Mutation - A Case Report, Sam Joseph, Zhiwei Zhang, Donald Eagerton, Rana Hoda

South Atlantic Division GME Research Day 2024

No abstract provided.

Health And Lifestyle Behavioral Changes To Prevent Myocardial Infarction (Mi): Mixed Methods Approach To Understand Secondary Mi Prevention, Naila Idreesa Saghir

Global Public Health | Senior Theses

Cardiovascular diseases are the leading causes of death globally and about 200,000 individuals experience their second myocardial infarction yearly. There is a lack of understanding about how lifestyle and behavioral changes can prevent secondary myocardial infarction a year in the United States. The objective of this study is to use a mixed methods approach to understand how individuals who have made lifestyle behavioral changes to prevent their secondary myocardial infarction. Surveys and interviews consisted of questions about the participants' health behaviors and health history. Demographics, background information, and lifestyle behavioral changes were measured using Qualtrics. Valid and reliable tools such …

Syncope With Too Much Iron-Y: Hemochromatosis As A Possible Contributing Factor In Acute Liver Failure, Andrew Ondracek, Joshua Wais, Joseph Petkiewicz, Robert Ondracek

West Florida Division GME Research Day 2024

No abstract provided.

Unraveling Abdominal Heterotaxy Syndrome: A Case Study Of Intractable Nausea And Vomiting In An Adult Female, Allison Yang, Timbre Backen, Michaela Snow, Kyle Combe, Julie Krenz

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

Noonan Syndrome And Late Onset Eisenmenger Syndrome, Kimberly Solana Mathurin, Payton Williams, Amethyst Wilder

South Atlantic Division GME Research Day 2024

No abstract provided.

Congenital Atrial Septal Defect Presenting With Tamponade Physiology And An Associated Viral Illness, Angel G. Juarez, Gabriela Jhon, Rami N. Khouzam, Randall Goodroe, Russell F. Stahl, Mohamed Faris

South Atlantic Division GME Research Day 2024

No abstract provided.

Pseudohypoparathyroidism During Pregnancy: A Rare Disease With Significant Diagnostic, Clinical And Hereditary Consequences For Mother And Neonate, Sara J. Hitt, Claire Mccarthy, Renee Ricci, Bethany Bowling, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.