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

Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman

South Atlantic Division GME Research Day 2023

No abstract provided.

Clinical Decision Making In A Challenging Case: A Case Of Anomalous Origin Of The Right Coronary Artery With Interarterial Course Presents With Sudden Cardiac Death, Israa Al-Gburi, Amid Bitar, Reem Alqader

South Atlantic Division GME Research Day 2023

No abstract provided.

A Meta-Narrative Review: Efficacy Of Non-Invasive Prenatal Testing (Nipt) In The Detection Of Sex Chromosomal Aneuploidy In Singleton Pregnancy, Tien T. Dao, Arianna Fields, Annie Huynh, Nikkita Mcghee, Christian Pellegrini

Research Methods Poster Session 2023

Abstract:

Objective: To assess the efficacy of Noninvasive Prenatal Testing (NIPT) as a screening method for Sex Chromosomal Aneuploidy (SCA) and its application in clinical practice.

Methods: Searches on Pubmed and M.D. Anderson Cancer Center Research Medical Library was performed to identify primary research articles published between January 2018 to April 2023.

Results: The average combined SCA's PPV was 46.08%. The average PPV for 45, X, 47, XXX, 47, XXY, and 47, XYY was 26.05%, 44.82%, 50.21%, and 62.99%, respectively. The average PPV for 46, XY was 1.18%; however, there is a lack of statistical data for 46, XY. NIPT …

Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh

Journal of Patient-Centered Research and Reviews

Purpose: Rare conditions are often poorly understood, creating barriers in determining the value treatments can provide. This study explored barriers and facilitators to personal health data sharing among those with one particular group of rare hematologic disorders, ie, sickle cell disorder (SCD) and its variants.

Methods: A single online focus group among those > 18 years of age and living with SCD was conducted. Participants (N = 25) were recruited through a United Kingdom-based SCD charity. Discussions were transcribed verbatim, with data therein analyzed using inductive thematic analysis.

Results: Five primary motivators for sharing health data were identified: improving awareness; knowing …

Kearns-Sayre Syndrome: Two Case Reports And A Review For The Primary Care Physician., Chad Richmond, Leonard Powell, Zachary D. Brittingham, Alison Mancuso

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a …

Molecular And Cellular Investigations Of Prader-Willi Syndrome, Anna K. Victor

Theses and Dissertations (ETD)

Prader-Willi syndrome (PWS) is a complex multigenic neurodevelopmental disorder resulting in hypotonia, developmental delay, hypogonadism, sleep dysfunction and childhood onset obesity affecting 1 in 10,000 to 30,000 individuals. PWS is an imprinting disorder that is caused by a loss of expression of maternally imprinted genes in the 15q11.2-q13 region including NDN, MAGEL2, SNRPN/SNURF, and a cluster of snoRNAs. The majority of cases are caused by inheriting a paternal allele deletion of this region (65-75%) and a smaller number are caused by chromosome 15 maternal uniparental disomy (UPD) (20-30%) or imprinting center defects (1-3%). Here, we used dental pulp stem cells …

Ablation Of Rare Accessory Pathway From Right Atrial Appendage Diverticulum To Anatomic Left Ventricle In Cc-Tga., Shree Lata Radhakrishnan, Robert Drutel, Cody Williams, Raman Danrad, Kelly Gajewski, Paul A. Lelorier

School of Medicine Faculty Publications

American College of Cardiology Conference ACC.23, March 4 - 6, 2023, New Orleans, LA

Molecular Diagnosis Of Non X-Linked Ectodermal Dysplasias Using Next Generation Sequencing, Eman Abdelalim Rabie

Theses and Dissertations

Ectodermal Dysplasias (EDs) are rare heterogenous monogenic developmental disorders sharing the impairment of at least two surface ectoderm-derived organs. Symptoms characteristically manifest developmental abnormalities of the teeth, and three skin derivatives: hair follicles, nails, and sweat glands. The disease-causing gene was identified for only fewer than half of 160 characterized ED phenotypes. Expectedly, ED-causing genes regulate or function in ectodermal-developmental processes. The most common phenotype is hypohidrotic ED featuring teeth agenesis, and diminished or complete absence of hair and sweat production. Disease-causing variants of EDA, EDAR, EDARADD and WNT10A genes were identified in 60-90% of ED patients in …

Paternal Ages And Genetic Diseases And Congenital Anomalies, Neda Hamood

The Pegasus Review: UCF Undergraduate Research Journal

he purpose of this research is to investigate the link between Advanced Paternal Ages (APA) (i.e., APA ≥ 35 years and APA ≥ 50 years) and genetic diseases and congenital anomalies. Currently, the relationship between both APA and genetic diseases and congenital anomalies remains unclear. There is room for improvement, however, to investigate systematically the relationship between specific congenital anomalies in newborns and APA. More recently, the link between APA (as opposed to existing studies analyzing Advanced Maternal Age alone) and genetic diseases has been recognized by researchers, epidemiologists, and various health experts. Thus, this study serves to examine the …

Risk Stratification By Percent Liver Herniation In Congenital Diaphragmatic Hernia, Oluyinka O Olutoye, Steven C Mehl, Anoosha Moturu, Rowland W Pettit, Ryan D Coleman, Adam M Vogel, Timothy C Lee, Sundeep G Keswani, Alice King

Faculty, Staff and Students Publications

INTRODUCTION: Congenital diaphragmatic hernia is associated with pulmonary hypoplasia, pulmonary hypertension, and significant neonatal morbidity. Although intrathoracic liver herniation (LH) >20% is associated with adverse outcomes, the relationship between LH

METHODS: A single-center retrospective cohort study was performed from 2011 to 2020 of 80 fetuses with left-sided congenital diaphragmatic hernia that were delivered and repaired at our institution. Perinatal, perioperative, and postoperative data were collected. We evaluated the association of %LH with outcomes as a stratified ordinal variable (0%-10% LH, 10%-19% LH, and >20% LH) and as a continuous variable. Data were analyzed by analysis of variance with Bonferroni post …

Remote Care Adoption In Underserved Congenital Heart Disease Patients During The Covid-19 Era, Ruth M Vaughan, Judson A Moore, Jasmine S Moreno, Karla J Dyer, Abiodun O Oluyomi, Keila N Lopez

Faculty, Staff and Students Publications

The COVID-19 pandemic restricted in-person appointments and prompted an increase in remote healthcare delivery. Our goal was to assess access to remote care for complex pediatric cardiology patients. We performed a retrospective chart review of Texas Children's Hospital (TCH) pediatric cardiology outpatient appointments from March 2020 to December 2020 for established congenital heart disease (CHD) patients 1 to 17 yo. Primary outcome variables were remote care use of telemedicine and patient portal activation. Primary predictor variables were age, sex, insurance, race/ethnicity, language, and location. Descriptive statistics were used to analyze patient demographics. Multivariate logistic regression determined associations with remote care …

A Brief Overview Of Triple A Syndrome, Jamaal Khan

Mako: NSU Undergraduate Student Journal

Triple A Syndrome, also known as AAA Syndrome, is a rare autosomal recessive disorder caused by any mutation in the AAAS gene on chromosome 12q13, whose main function is to code for the WD-repeat family regulatory protein, ALADIN. It typically occurs as a group of diseases that are characterized by alacrima, Addison's disease, and achalasia. Alacrima can be defined by a decrease in the amount of tears produced while achalasia is nerve damage in the esophagus that can cause difficulty swallowing. Lastly, Addison's disease is the insufficient production of cortisol and aldosterone produced by the adrenal cortex. There is no …

The Impact Of Covid-19 On Pediatric Cardiac Arrest Outcomes: A Systematic Review And Meta-Analysis, Alla Navolokina, Jacek Smereka, Bernd W Böttiger, Michal Pruc, Raúl Juárez-Vela, Mansur Rahnama-Hezavah, Zubaid Rafique, Frank W Peacock, Kamil Safiejko, Lukasz Szarpak

Faculty, Staff and Students Publications

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a global pandemic, required the donning of personal protective equipment during clinical contact, and continues to be a significant worldwide public health concern. Pediatric cardiac arrest is a rare but critical condition with a high mortality rate, the outcomes of which may be negatively affected by donning personal protective equipment. The aim of this study is to perform a systematic review and meta-analysis of the impact of the COVID-19 pandemic on pediatric cardiac arrest outcomes. We conducted a systematic review with meta-analysis in the following databases: PubMed, EMBASE, Scopus, Web of Science, …

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.

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, …