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

Hereditary Angioedema: Diagnosis, Clinical Implications, And Pathophysiology, Evan S. Sinnathamby, Peter P. Issa, Logan Roberts, Haley Norwood, Kevin Malone, Harshitha Vemulapalli, Shahab Ahmadzadeh, Elyse M. Cornett, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III. Type I is characterized by a deficiency in C1-INH. C1-INH is important in the coagulation complement, contact systems, and fibrinolysis. Most HAE cases are type I. Type I and II HAE result from a mutation in the SERPING1 gene, which encodes C1-INH. Formally known as type III HAE is typically an estrogen-dependent or hereditary angioedema with normal C1-INH activity. Current guidelines now recommend subdividing …

Midgut Volvulus A Rare Cause Of Acute Abdomen In The Adult Patient, Mason S. Deinema, Saptarshi Biswas

South Atlantic Division GME Research Day 2023

No abstract provided.

Nontyphoidal Salmonella Causing Mycotic Aneurysms And Subsequent Vascular Graft Infection: A Case Report, Bernard Dankyi, Sandi Dunn, Zainab Saeed, Vincent Santi, Aneta Tarasuik Rusek

North Florida Division GME Research Day 2023

No abstract provided.

Fumarate-Hydratase Deficient Leiomyoma – An Opportunity To Intervene, Gul Wymer, Brittany Nagel, Susana Ferra

East Florida Division GME Research Day 2023

No abstract available.

A Stiff Lower Lip, Tricia O'Brien, Philip Mesquita, Zahid Chaudry

East Florida Division GME Research Day 2023

No abstract available.

Appendicitis Mimicry Of A Rare Case Of Early Diagnosed Dolichocolon, A Case Report, Kayla Brown, Mercedes Jolley, Dean Kocay

Central & West Texas GME Research Day 2023

No abstract provided.

The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman

UROP Posters

This study examines the consequences of Alzheimer’s in rat and mice test subjects. The goal is to identify the effects of certain NLRP3 inhibiting drugs and to see if there are any noticeable effects in regards to impeding the pathological development of Alzheimer’s disease. The results are visualized by implementing the immunohistochemical process to identify neurodegeneration in the brain and to assess the expression levels of amyloid beta as an indicator of Alzheimer’s pathology. Other tests are also conducted on these transgenic mice to gauge cognitive functioning levels during the onset of their disease, those being behavior tests, but not …

Fever Of Unknown Origin Secondary To Staphylococcus Epidermidis Infective Endocarditis In A Patient With Aicardi Syndrome, Kimberly Sanchez Lopez, Elvis Caraballo Antonio, Gabriel Barciela Perez, Melanio J. Rodriguez, Yeissen Godinez

East Florida Division GME Research Day 2023

INTRODUCTION Aicardi syndrome is a rare neurodevelopmental disorder predominantly affecting females and characterized by agenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae. We present the case of a 24-year-old female with a known history of Aicardi syndrome who presented with fever of unknown origin, ultimately attributed to Staphylococcus Epidermidis infective endocarditis involving a native valve.

CASE DESCRIPTION A 24-year-old female with a history significant for Aicardi syndrome and epilepsy presented to the emergency department for fever during the past week; her primary care physician sent her for outpatient blood work a few days prior, including blood culture, …

Factor Vii Deficiency And Second Trimester Abortion: A Case Report, Katie P. Nguyen, Tamara Lynne B. Aqui, Honey Milestone

Far West Division GME Research Day 2023

No abstract provided.

Congenital Mesenteric Defect Results In Internal Hernia In An Adult With Obstructed Small Bowel, Tameem Jamal, Adina Mcnair, Saptarshi Biswas

South Atlantic Division GME Research Day 2023

No abstract provided.

A Case Report On Cervical Insufficiency And Ehlers Danlos Syndrome, Elizabeth Bogaty, Judy Bowers

South Atlantic Division GME Research Day 2023

No abstract provided.

Maternal Mirror Syndrome As A Consequence Of Fetal Sacrococcygeal Teratoma: A Case Report And Literature Review, Ali Farris, Andrew Royek, Kaitlyn Dorsey

South Atlantic Division GME Research Day 2023

No abstract provided.

Noncompaction Cardiomyopathy: A Catastrophic Cause Of Heart Failure, William Zvagelsky, Ajay Iyer, Rebecca Kurian, Brent Wu, Minar Rane, Rajendran Sabapathy

Continental, MidAmerica, & Mountain Divisions GME Research Day 2023

No abstract provided.

When You Are Not Able To Engage The Right Coronary Artery, Emadeldeen Elgwairi, Ajay Iyer, William Zvagelsky, Shruti Verma, Marcarthur Limpiado, Minar Rane, David Rios

Continental, MidAmerica, & Mountain Divisions GME Research Day 2023

No abstract provided.

Combatting Bacterial Infections: The Efficacy Of Poly-Gamma-Glutamic Acid On The Prevention Of Nasopharyngeal Infections Among Individuals With Cleft Lip And Palate, Florence Pun

Scripps Senior Theses

Cleft lip and palate (CLP) is a medical condition where children are born with an unfused lip and palate. While surgery is required to fuse the lip and palate, there are other conditions that children with CLP face after surgeries, such as otitis media (OM), speech impediments, and difficulty breathing. Particularly, OM occurs frequently in individuals with CLP because the tensor veli palatini muscles cannot open the Eustachian tube frequently and ventilate the middle ear properly, even after surgery. This thesis is a research proposal to evaluate whether γ-PGA can be used in nasal washes to safely prevent nasopharyngeal infections …

Huntington’S Disease: A Systematic Review And Overview Of Treatments, Madison Mintz

Undergraduate Honors Theses

Huntington’s Disease (HD) is a genetic neurodegenerative disease that is the result of a mutation of the huntingtin gene. The gene is passed in an autosomal dominant fashion and is the result of multiple Cystine, Adenine, and Guanine base repeats. HD symptoms manifest as motor, cognitive, and psychological symptoms that can range of chorea movements to depression or apathy. The disease progresses through various prodromal and clinical stages as the disease starts to manifest. The current technique to diagnose HD is the use of direct genetic testing, which counts the number of repeats. Due to the nature of HD, both …

Enhancing Dental Aligners With Direct 3d Printing Manufacturing, Erin Clark, Lauren Ickes, Tyler Madison

Williams Honors College, Honors Research Projects

Replacement of thermoforming with direct 3d printed aligners, molding appliances for dental and alveolar movement. Currently the process involved requires 3d printing models and plastic thermoforming, trimming and polishing to fabricate the end product. If possible a product that could be 3d printed that had stress retention, crack resistance, and stain resistance properties delivered in thickness between .030 and .040 inches.

Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen

Theses and Dissertations--Molecular and Cellular Biochemistry

Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form. During the last 20 years, glycogen has been shown to play pivotal roles in learning and memory, signaling events, viscosity, protein glycosylation, and be acritical hallmark in devastating diseases. Not only, does glycogen play a role as an energy substrate and critical metabolite during energy deprivation, glycogen is central for neurotransmitter homeostasis, tumor initiation, and ontributes to proper protein glycosylation in the brain. In this work, …

Development Of A Chemical Biology Approach To Uncover The Influence Of Sequence Variations On Ces1 Activity In Live Cells, Samuel James Knebel

Masters Theses

Drug metabolism is the biochemical process of modifying drugs to detoxify and remove them through enzymatic transformations. These biotransformation’s occur primarily in the liver and are critical to understanding how pharmaceutical compounds are chemically altered inside the human body. Human carboxylesterases (CESs) catalyze the hydrolysis of esters, amides, thioesters, and carbamates. CES-mediated hydrolysis plays an important role in the metabolism of many drugs including the first FDA approved antiviral treatment for COVID-19, remdesivir (Veklury), the seizure control medication rufinamide (Banzel), and the flu antiviral drug oseltamivir (Tamiflu). CES activity is known to be influenced by a variety of factors including …

Cystic Fibrosis Transmembrane Conductance Regulator Modulation May Improve Intestinal Inflammation In Adults With Cystic Fibrosis, Lauren G. Culver

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Ooi CY, Syed SA, Rossi L, Garg M, Needham B, Avolio J, Young K, Surette MG, Gonska T. Impact of CFTR modulation with Ivacaftor on Gut Microbiota and Intestinal Inflammation. Sci Rep. 2018 Dec 13;8(1):17834. https://doi.org/10.1038/s41598-018-36364-6

for a patient with cystic fibrosis experiencing small bowel obstruction.