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

Chemical Exposures In Utero: Phthalates And Congenital Heart Defects, Demi Poulathas

Rowan-Virtua Research Day

Background: Congenital heart defects (CHDs) are the most common type of birth defect. Approximately 80% of CHDs have unknown causes, and phthalates may play a contributing role. Phthalates are ubiquitous environmental chemicals used as plasticizers in a wide range of products, including cosmetics and electronic devices. After entering the body, phthalates bind to the progesterone receptor, which is necessary for fetal development. While multiple studies have explored environmental factors in CHD development, few have examined the effects of phthalates on CHDs in humans. Methods: A literature review was conducted to investigate the relationship between parental occupational phthalate exposure and the …

Assessing The Safety And Effectiveness Of Endovascular Treatment Vs. Surgical Repair Of Aortic Aneurysms In Patients With Marfan Syndrome: A Literature Review, Noor Baig, Zainab Mubasher, Nassos Tziviskos, Joseph Pernini, Marcus Fariello, Ryan Hickey

Rowan-Virtua Research Day

Background: This review compares the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) versus open surgical repair in patients with Marfan Syndrome (MFS) and thoracic aortic aneurysms. We assessed differences in mortality, length of hospital stay, renal impairment, and stroke incidence between the two techniques. Currently, open surgical repair is the gold standard treatment.

Hypothesis: As the gold standard treatment, we expect open surgical repair to have more favorable outcomes than TEVAR.

Methods: A systematic literature search was performed using studies from 2000-2024 across PubMed, Scopus, Embase, Cochrane, and Web of Science. Studies were included if they involved adult …

Uncovering A Fundamental Mechanism Underlying Female Oocyte Quality And Rasopathies Using C. Elegans As A Model System, Han Bit Baek

Dissertations and Theses (Open Access)

Signaling pathways are molecular networks that allow cells to communicate between and within themselves. They are crucial for the coordination of diverse cellular processes and are the molecular mechanism in which cells sense and respond to their environment. RAS (Rat Sarcoma) is a small GTPase that transmits extracellular growth factor signals through a downstream kinase cascade and ERK (Extracellular-signal regulated kinase) is the terminal kinase, and it controls cellular processes such as proliferation, differentiation, and survival by phosphorylating its downstream effectors. This post translational modification regulates the effector by modulating its activity, levels, and/or interaction with other molecules. Given the …

Maternal Carbohydrate-Controlled Diets And The Impact On Neonatal Hypoglycemia Rates, Jenna L. Klopping

Student Scholarly Projects

Practice Problem: Neonatal hypoglycemia has a profound impact on the diabetic maternal infant dyad and their families. The practice problem negatively affects the quality of care offered by healthcare providers, while also imposing a financial burden on the healthcare system that extends well beyond the perinatal period.

PICOT: In term infants born to diabetic mothers (P), does a regular carbohydrate-controlled diet given at least 8 hours prior to birth (I) in comparison to a clear liquid carbohydrate-controlled diet (C) reduce the incidence of neonatal hypoglycemia at two hours of life(O) across an 8-week period(T)?

Evidence: A medical nutrition diet, such …

Clinical Characteristics And Outcomes Of Pediatric Staphylococcal Scalded Skin Syndrome (Ssss) At An Inner-City Tertiary Care Center, Nina Kb Gust Md, Ashley Frei Bs, Rebecca M. Adams Bs, Elika Ridelman Phd, Christina Shanti Md, Ronald Thomas Phd, Jocelyn Y. Ang Md

Medical Student Research Symposium

Introduction

Staphylococcal Scalded Skin Syndrome (SSSS) is a blistering skin condition caused by a toxin-producing staphylococcus species. Epidemiologic studies on pediatric SSSS in the United States are limited, with a reported incidence of 7.67 cases per million children and 45.1 per million infants. Immature renal function, lack of protective antibodies, and increased exotoxin target desmoglein-1 are hypothesized to increase incidence in younger children. We aimed to determine clinical and microbiological characteristics of pediatric SSSS and factors that could help predict disease severity.

Methods

A retrospective chart review was performed for admitted patients under 18 years old diagnosed with SSSS from …

Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md

Medical Student Research Symposium

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disease characterized by cerebral venous malformations leading to early damage of affected brain regions. Clinical symptoms include seizures, motor and cognitive impairment. Most SWS patients have unilateral brain involvement, and previous studies reveal substantial neurological plasticity in some of them. Some children with left-hemispheric damage demonstrate, paradoxically, preserved verbal functions and reduced nonverbal functions (a “crowding” effect), suggesting contralateral functional reorganization from damaged cortical regions. We evaluated the incidence as well as clinical and imaging correlates of such functional reorganization/crowding.

Methods: Forty-six patients (age: 2.5-24 years) with unilateral SWS underwent neurocognitive evaluations …

Physiological Indicators Of Social Anxiety In Preschoolers With The Fragile X Premutation, Olivia Cyburt

Senior Theses

The Fragile X premutation (FXpm) is a common genetic disorder often characterized by psychiatric impairments, including anxiety. It results from a trinucleotide repeat expansion (CGG) of 55-200 repeats on the FMR1 gene. Despite its association with psychiatric symptoms, there is limited research regarding the relationship between FXpm and anxiety, particularly social anxiety. Early detection of social anxiety is essential for timely intervention, yet it remains challenging to identify in young individuals with FXpm due to limited research. The present study aimed to bridge this gap by examining social anxiety in preschoolers with the FXpm, utilizing both a physiological and behavioral …

Massive Subcutaneous Hematoma Of The Back In Patient With Neurofibromatosis Type 1, Sriprachodaya Gaddam, Olivia Orris, Leigham Breckenridge, Michael Van Etten

Tower Health Research Day

No abstract provided.

Effectiveness Of Intrapartum Azithromycin To Prevent Infections In Planned Vaginal Births In Low-Income And Middle-Income Countries: A Post-Hoc Analysis Of Data From A Multicentre, Randomised, Double-Blind Placebo-Controlled Trial, Waldemar A. Carlo, Alan T.N. Tita, Janet L. Moore, Musaku Mwenechanya, Elwyn Chomba, Jennifer J. Hemingway-Foday, Avinash Kavi, Mrityunjay C. Metgud, Shivaprasad S. Goudar, Richard J. Derman, Adrien Lokangaka, Antoinette Tshefu, Melissa Bauserman, Jackie K. Patterson, Poonam Shivkumar, Manju Waikar, Archana Patel, Patricia L. Hibberd, Paul Nyongesa, Fabian Esamai, Osayame Austine Ekhaguere, Sherri Bucher, Saleem Jessani, Shiyam Sunder Tikmani, Sarah Saleem, Robert L. Goldenberg, Sk Masum Billah, Ruth Lennox, Rashidul Haque, William Petri, Manolo Mazariegos, Nancy F. Krebs, Denise C. Babineau, Elizabeth M. Mcclure, Marion Koso-Thomas, A-Plus Trial Group

Global Health Articles

Background

In 2023, the Azithromycin Prevention in Labor Use (A-PLUS) trial showed intrapartum azithromycin reduces maternal sepsis or death in women with planned vaginal delivery in low-resource settings, but whether it reduces maternal infection is unknown. We aimed to evaluate the effectiveness of intrapartum azithromycin in reducing maternal infection.

Methods

We performed a post-hoc analysis of the multicentre, facility-based, randomised, double-blind, placebo-controlled A-PLUS trial. This trial compared prophylactic intrapartum single oral dose of 2 g azithromycin versus placebo on maternal morbidity and mortality in low-resource settings in southeast Asia and Africa from Sept 9, 2020, to Aug 18, 2022. The …

Retinal Hemorrhage Associated With Neonatal Idiopathic Thrombocytopenia, Samara J. Hamou, Iniya K. Adhan, Maureen E. Lloyd, Barry N. Wasserman

Wills Eye Hospital Papers

PURPOSE: To describe a premature neonate with thrombocytopenia and retinal hemorrhage.

OBSERVATION: A 33 week premature neonate with neonatal thrombocytopenia (34 × 10⁹ platelet) was found to have left eye retinal hemorrhage. Bilateral retinal exam showed a healthy optic nerve and macula. A 10–12 disc diameter large nasal subretinal hemorrhage with an intraretinal white-centered hemorrhage was found. No other retinal abnormalities were found. Resolution of the hemorrhage occurred over the next three months. By this time, thrombocytopenia resolved (final platelet count: 259 × 10⁹/L), and the patient was able to fix and follow.

CONCLUSIONS AND IMPORTANCE: Neonatal …

Spontaneous Distal Middle Cerebral Artery Aneurysm In A Young Male With Full Mutation Of The Fragile X Syndrome With A High-Functioning Phenotype: Illustrative Case, Eleni Papadopoulos, Anna Abrimian, Hekmat Zarzour, Randi J Hagerman, Richard F Schmidt

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA.

OBSERVATIONS: Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal …

Maternal Health And Congenital Heart Defects: Investigating Ventricular Septal Defects In South Texas Region 11, Miguel A. Lopez, Sophia Moon, Jonathan M. Hebert, Padmanabhan Rengasamy

Research Symposium

Congenital heart defects are a known risk factor for early childhood mortality and can be traced to poor maternal health, a crisis plaguing the South Texas region. This perspective research project utilizes previously computed data on the prevalence of ventricular septal defects (VSD) in South Texas region 11 combined with a comprehensive literature review to investigate the correlation between both maternal obesity and diabetes with VSD. Current literature supports a significant association between maternal diabetes and VSD, with one Russian study reporting an eight to nine fold increased risk in VSD in children born to diabetic mothers. By contrast, the …

From Crisis To Action: Investigation, Research, And Response In The Rio Grande Valley Following The Anencephaly Cluster Of 1990-1991, Jonathan Hebert, Miguel Lopez, Padmanabhan Rengasamy

MEDI 9331 Scholarly Activities Clinical Years

The 1990-1991 birth defect cluster of anencephaly in the Rio Grande Valley has had lasting effects on Texas public health and birth defect prevention nationwide. The purpose of this study is to clearly illuminate public health efforts to investigate, identify, and combat the rise of anencephaly and other neural tube defects (NTDs) in the Rio Grande Valley and other border counties following the 1990-1991 cluster, as well as to report the findings of each branch of environmental, infectious, and genetic investigation into the possible causes of the disaster. Information was gathered via a literature review and from other sources including …

Terlipressin-Induced Hyponatremic Seizures In A Patient With Congenital Hepatic Fibrosis, Luca Gauci, Jorge Gafa, Suzanne Cauchi, Jurgen Gerada

HCA Healthcare Journal of Medicine

Introduction

Acute variceal bleeding from portal hypertension is one of the most serious complications with a mortality rate of 15% to 25%. Terlipressin is a vasopressor that controls variceal bleeding by lowering the portal pressure and reducing blood flow to the varices.

Case Presentation

We report a case of a patient with acute variceal bleeding, treated endoscopically and with terlipressin, who developed severe hyponatremia and seizures requiring admission to intensive care. Clinical and biochemical improvements were noticeable upon the cessation of terlipressin, with an eventual discharge from the hospital.

Conclusion

Prompt management of acute variceal bleeding with both endoscopic and …

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Department of Neurosurgery Faculty Papers

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …

Clinical Variability In Presentation And Management Of Quadricuspid Aortic Valve: A Case Series, Douglas Corsi, Brooke Kelly, Nikta Nair, Meiqi Luo, Brian Osler, Sung-Hae Cho, Praveen Mehrotra, David H Wiener, Drew Johnson

Division of Cardiology Faculty Papers

• Rare presentation of three QAV cases with varied clinical manifestations is reported. • Multimodal imaging is crucial for accurate QAV diagnosis and classification. • QAV is often associated with aortic regurgitation requiring intervention. • Surgical repair is preferred over replacement in suitable patients with QAV. • Long-term follow-up is essential for patients with QAV, even if asymptomatic.

The Effectiveness Of Cochlear Implants On Cognitive Function In Children And Adolescents With Hearing Loss: A Systematic Review, Harshita Sarambale, Joshua Ahdout, Srinija Balabhadra, Yesenia Valle Ramirez, John V. Rider Phd, Otr/L, M. De Armond Mfa, Mslis, S. Koshy-Chenthittayil Phd

Annual Research Symposium

This ongoing research project is a medical student led systematic review on cognitive function in pediatric cochlear implant patients.

Navigating Epstein-Barr Virus (Ebv) And Post-Transplant Lymphoproliferative Disorder (Ptld) In Pediatric Liver Transplantation: Current Knowledge And Strategies For Treatment And Surveillance, Erin Y Chen, Natasha Dilwali, Krupa R Mysore, Sara Hassan, Sara Kathryn Smith, Wikrom Karnsakul

Faculty, Staff and Students Publications

Epstein-Barr virus (EBV) is strongly associated with the development of post-transplant lymphoproliferative disorder (PTLD) in pediatric liver transplant recipients. PTLD is one of the most common malignancies following liver transplantation and is associated with significant morbidity and mortality. Factors such as EBV-serostatus mismatch and prolonged or high levels of immunosuppression impact a patient's risk of developing PTLD. While pre-transplant EBV serological screening and post-transplant monitoring of EBV-DNA levels are strongly recommended, universal guidelines for its prevention and management are lacking. Due to a lack of robust prospective studies, current clinical practices vary widely. The treatment of PTLD typically involves reducing …

Neonatal Care In Low- And Middle-Income Countries: A Fresh Look, Ola D. Saugstad, Joy E. Lawn, Peter Waiswa, Zulfiqar Ahmed Bhutta

Institute for Global Health and Development

No abstract provided.

Sudden Cardiac Death Associated With Fatty Liver Disease, Jonathan Vo, Thien T T T Truyen, Audrey Uy-Evanado, Arayik Sargsyan, Harpriya Chugh, Christopher Young, Sean Hurst, Christina Y Miyake, Kyndaron Reinier, Sumeet S Chugh

Faculty, Staff and Students Publications

BACKGROUND: Fatty liver disease or steatotic liver disease (SLD) affects 25% of the global population and has been associated with heart disease. However, there is a lack of postmortem studies in the context of sudden cardiac death (SCD).

OBJECTIVES: To investigate the relationship between SLD and SCD.

METHODS: A post-mortem case-case study was conducted in victims of SCD from an ongoing community-based study in Southern California (Ventura, CA, 2015-2023). Diagnosis of SLD was determined from post-mortem liver histopathology reports. For each patient, demographic variables, laboratory values, and presence of co-morbidities were ascertained from medical records and were compared between patients …

Bayesian Population Pharmacokinetic Modeling Of Ondansetron For Neonatal Opioid Withdrawal Syndrome, Kevin Lam, John Mondick, Gary Peltz, Manhong Wu, Walter Kraft

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Ondansetron is an anti-emetic 5-HT3 receptor antagonist being investigated for treating neonatal opioid withdrawal syndrome (NOWS). Sparse PK data were analyzed from a multicenter, double-blind clinical trial with 98 mother/neonate dyads. Pregnant women with opioid use disorder were randomized to receive either placebo or ondansetron 8 mg intravenously within 4 h of delivery. Neonates born to mothers who were randomized to ondansetron received 0.07 mg/kg orally once every 24 h for up to five doses. Using current PK data, model parameters from a two-compartmental structural model from the literature (i.e., a priori model) were updated with the Metropolis-Hastings Markov-chain Monte …

Clinical Outcomes In Patients With Cystic Fibrosis Receiving Cftr Modulators: A Comparison Of Childhood Versus Adolescent Initiation, Eman A. Toraih, Hassan A. Malik, Rahib K. Islam, Humza A. Pirzadah, Ahmed Abdelmaksoud, Rami M. Elshazli, Paul Antwi Boasiako, Shehab Ahmed Alenazi, Angelique Dabel, Jessan A. Jishu, Bandar T. Alenezi, Hani Aiash, Manal S. Fawzy

School of Medicine Faculty Publications

BACKGROUND/OBJECTIVES: Cystic fibrosis (CF) is a life-limiting genetic disorder affecting multiple organ systems. This study compared clinical outcomes, hospitalization rates, and survival between children and adolescents with CF who received CFTR modulator therapies (ivacaftor, lumacaftor, tezacaftor, and elexacaftor). METHODS: A retrospective cohort study was conducted using data from the TriNetX global collaborative network. Patients with CF aged 2-12 years (children) and 13-18 years (adolescents) who received CFTR modulator therapies were included. The propensity score matching balanced baseline characteristics between the two age groups. RESULTS: After propensity score matching, 946 patients per group were analyzed. The incidence of respiratory failure (3.81% …

Congenital Rickets, Melissa Intriago

Mako: NSU Undergraduate Student Journal

No abstract provided.

Comprehensive Overview Of Gastroschisis, Alexis Carver

Mako: NSU Undergraduate Student Journal

Gastroschisis is a congenital defect of the abdominal wall viscera that occurs during early embryonic development, leading to the protrusion of bowel through an opening near the umbilical cord. This condition is classified as either simple, involving only the bowel, or complex, involving additional complications like necrosis or intestinal atresia. While the exact cause of gastroschisis remains unknown, it is believed to be influenced by a combination of genetic and environmental factors. This congenital disorder affects a very small percentage of neonates, and the associated mortality rates are relatively low due to modern developments in medical science. Gastroschisis can be …

Micra-Scopic Hero: Rare Unroofed Cornoary Sinus Complicating Pacemaker Placement, Suhas Tatapudi, E Castillo, Jeby Kalathoor, Zuhair Ali, Hytham Rashid, R Cargioli

Gulf Coast Division GME Research Day 2025

No abstract provided.

A Rare Presentation Of Prothrombin G20210a Mutation As A Right Ventricular Thrombus, Amelia Mellor, Abedayo Olusanya, Daniel Ortiz

Central & West Texas and San Antonio GME Research Day 2025

No abstract provided.

A 40 Year Journey: Adenocarcinoma In A J Pouch Post Prophylactic Surgery For Fap, Osamuyi Asemota, Kayla Brown, Megan Turley, David Fleeger

Central & West Texas and San Antonio GME Research Day 2025

No abstract provided.

Optimizing Opioid Selection For Vaso-Occlusive Crisis: Identifying The Best Option To Reduce Hospital Length Of Stay, Benjamin H. Bridges, Laura Strom, Eric Belcher, Winston Daniels, Ansley Connelly, Joshua Ferrell

South Atlantic Division GME Research Day 2025

No abstract provided.

Robotic Transabdominal Preperitoneal Morgagni Hernia Repair, Chris Robert, Furrukh Jabbar

North Texas Research Forum 2025

Introduction: Morgagni hernia is a rare type of congenital diaphragmatic hernia, representing about 3% of all cases. It occurs due to a defect in the development of the diaphragm in the Morgagni foramen, also known as the sternocostal triangle. Case presentation: A 63-year-old woman with a past medical history of hypertension, hypothyroidism, Barrett’s esophagitis, and cirrhosis secondary to alcohol intake (Child Pugh A) presented with increasing shortness of breath and spasmodic right sided chest pain. A diagnostic workup with a CT chest revealed herniation of fat and a portion of the colon into the right chest with adjacent atelectasis of …

A Unique Case Of Small Bowel Arteriovenous Malformations In The Setting Of Immune Thrombocytopenic Purpura, Austin Moore, Evan Chen, Hassan Ahmed

North Texas Research Forum 2025

Arteriovenous malformations (AVM) are a common cause of gastrointestinal (GI) bleeding and often require intervention for definitive treatment. The diagnosis and management of this disease process becomes complicated when combined with an immunologic coagulation disorder. There is very limited literature describing management techniques for patients with these coinciding diseases. This unique case describes a 65-year-old male with a history of AVMs of the small bowel as well as immune thrombocytopenic purpura (ITP). Previously he had undergone multiple medical interventions for management of his ITP, including steroids and intravenous immunoglobulin therapy. He had also undergone multiple imaging and endoscopic interventions to …