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

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.

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

Central & West Texas 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 Research Day 2023

No abstract provided.

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

South Atlantic Division Research Day 2023

No abstract provided.

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

Far West Division 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 Research Day 2023

No abstract provided.

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

East Florida Research Day 2023

No abstract available.

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 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, …

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 Research Day 2023

No abstract provided.

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

East Florida Research Day 2023

No abstract available.

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

South Atlantic Division Research Day 2023

No abstract provided.

Educating School Nurses To Improve Bowel Continence In Children With Spina Bifida, Mckinley J. Waugh, Tracy L. Brewer, Lisa Wagoner

Graduate Publications and Other Selected Works - Doctor of Nursing Practice (DNP)

Children born with spina bifida, a neural tube defect, can have associated loss of bowel control resulting in bowel incontinence. The National Patient Spina Bifida Registry found that 87% of those living with spina bifida had bowel incontinence, and less than 30% were bowel continent (Sawin et al., 2015; Wiener et al., 2017). Unfortunately, providers may never start a child living with spina bifida on a bowel management program. Evidence suggests that children with spina bifida should begin a bowel management program early, using a stepwise approach. School nurses, who interact with children living with spinal bifida while attending school, …

Monitoring Intraventricular Hemorrhage In Preterm Infants, Lilian Mn Kebaya

Electronic Thesis and Dissertation Repository

Germinal Matrix-Intraventricular hemorrhage (GMH-IVH) remains a significant cause of adverse neurodevelopmental outcomes in preterm infants. Current management options for GMH-IVH rely on serial 2-dimensional cranial ultrasound (2D cUS) ventricular measurements and clinical signs. A need exists for reliable biomarkers to aid in the early detection of posthemorrhagic ventricular dilatation (PHVD) and cerebral palsy (CP). We incorporated 3-dimensional cranial US (3D cUS) and functional infrared spectroscopy (fNIRS) to monitor ventricle volumes (VV) and spontaneous functional connectivity (sFC) in preterm infants with GMH-IVH. Infants with severe GMH-IVH who underwent cerebrospinal fluid diversion showed larger VV, which correlated with decreased sFC. Our findings …

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.

Med12 Is A Critical Regulator Of Neural Crest Lineage And Nervous System Myelination, Fatma Betul Aksoy Yasar

Dissertations & Theses (Open Access)

The Mediator complex (MED) is a multi-subunit protein complex integral to the eukaryotic transcription machinery. MED12 is a Cdk8- regulatory kinase module subunit directly implicated in human disease and is genetically altered in neurological disease and cancer. Numerous attempts at generating an in vivo system to study the role of Med12 failed due to embryonic lethality associated with germline or developmental disruption of Med12 gene. To understand the cellular and molecular processes associated with its role in disease, we generated multiple mouse models with targeted depletion of MED12 in distinct cellular lineages. Our genetically engineered models with induced and conditional …

The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al

School of Medicine Faculty Publications

Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 …

Should Health Systems Share Genetic Findings With At-Risk Relatives When The Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome, Jessica Ezzell Hunter, Jennifer L. Schneider, Alison J. Firemark, James V. Davis, Sara Gille, Pamala A. Pawloski, Su-Ying Liang, Victoria Schlieder, Alanna Kulchak Rahm

Journal of Patient-Centered Research and Reviews

Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives.

Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient’s death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a …

Comprehensive Care To Improve Quality Of Life: A Case Of Childhood Adrenoleukodystrophy, Miraal S. Dharamsi, Adrian A. Mejia, Cecilia De Vargas

HCA Healthcare Journal of Medicine

The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient’s parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this …

Emicizumab-Kxwh: A Critical Review, Kiera O'Leary

International Undergraduate Journal of Health Sciences

The first descriptions of haemophilia A were reported in the second century AD, with the first modern description by John Conrad Otto in 1803. Historically, the natural history of haemophilia A was associated with very high rates morbidity and mortality, often following trivial accidents. Although treatment options for haemophilia A have been revolutionised in recent decades, haemophilia A remains a hereditary disease of concern and factor replacement products remain the mainstay of treatment.

As such, patients with haemophilia can carry huge burdens, particularly when a complication such as a FVIII inhibitor is present. A recently approved novel therapeutic, Emicizumab-kxwh, has …

Thromboelastography Profiles Of Hemophilia A Patients On Emicizumab, Daniel J. Vanzweden, Meera Chitlur, Charity J. Stadler

Medical Student Research Symposium

Emicizumab is a new monoclonal antibody developed to dtreat people with Hemophilia A, especially those with antibodies. However, breakthrough bleeding can still occur in patients taking Emicizumab. TEG is a global coagulation assay which measures coagulability through viscosity. This study describes the use of tissue factor activated TEG in measuring bleeding profiles in patients taking Emicizumab. The goal of this prospective study is to determine if TEG can be used, which variables of TEG might be useful, and how much more useful it is than the current standard, aPtt. Findings include a 25% increased R time and 24% increased K …