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

Discordance Interpretation Of Left Ventricular Size Between Echocardiography And Cardiac Magnetic Resonance In Pediatric Patients With Aortic/Mitral Regurgitation, Anastasia Barros, Michelle Udine, Chris Spurney, Laura Olivieri, Yue-Hin Loke

Jefferson Hospital Staff Papers and Presentations

PURPOSE: This study investigated discordance between echocardiography (echo) and cardiac magnetic resonance (CMR) measurements of the left ventricle (LV) in pediatric patients with aortic and/or mitral regurgitation (AR/MR).

METHODS: Retrospective cohort study of pediatric patients. The cohorts were comprised of patients with AR/MR vs. non-AR/MR. Left ventricular end diastolic volume (LVEDV) by CMR and left ventricular internal diameter diastolic (LVIDd) by echo were obtained from clinical reports then echo images were reviewed to remeasure LVEDV by bullet method. Left ventricular internal diameter systolic (LVIDs) and left ventricular ejection fraction (LVEF) measurements by echo and LVEF by CMR were obtained from …

Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi

School of Medicine Faculty Publications

Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme. The 21-hydroxylase enzyme produces all steroids, such as cortisol and aldosterone. AI management primarily involves hormone replacement therapy, typically with oral …

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch

School of Medicine Faculty Publications

PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …

Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista

Mako: NSU Undergraduate Student Journal

Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.

Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …

Neighborhood Environment And Poor Maternal Glycemic Control-Associated Complications Of Gestational Diabetes Mellitus, Leela V. Thomas, Claudine T. Jurkovitz, Zugui Zhang, Mitchell R. Fawcett, M. James Lenhard

Department of Medicine Faculty Papers

INTRODUCTION: Risk of complications due to gestational diabetes mellitus is increasing in the U.S., particularly among individuals from racial minorities. Research has focused largely on clinical interventions to prevent complications, rarely on individuals' residential environments. This retrospective cohort study aims to examine the association between individuals' neighborhoods and complications of gestational diabetes mellitus.

METHODS: Demographic and clinical data were extracted from electronic health records and linked to American Community Survey data from the U.S. Census Bureau for 2,047 individuals who had 2,164 deliveries in 2014-2018. Data were analyzed in 2021-2022 using Wilcoxon rank sum test and chi-square test for bivariate …

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, …

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.