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

Consecutive Offspring With Major Midline Anomalies In The Setting Of Maternal Spastic Diplegia And A Wes-Identified Genetic Mutation, Kaitlyn Vu, Lillian Fagan, Alison Macleod, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Evaluating The Impact Of Gabapentin As An Adjunct To Hydromorphone On Hospital Length Of Stay In Adults Admitted For Sickle Cell Pain Crises, Minh Chung, Taylor Johnson, Breveenn Kukan, Luis Ramos, Amethyst Wilder

South Atlantic Division GME Research Days 2026

No abstract provided.

Maternal Cleidocranial Dysplasia – An Exceptionally Rare Skeletal Syndrome With Clinical Implications, Abigail Haythorn, Katherine Cuadrado, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Fetal Trisomy 9 In The Setting Of Low Risk Nipt Aneuploidy Screening, Andrew Royek, Shea Mcgrinder, Lauren Boyle, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Finding Foxg1 Syndrome In An Adult Patient, Claudia Ludden, Timothy P. Connelly

South Atlantic Division GME Research Days 2026

No abstract provided.

Criterion Validity Of The Functional Status And Pain Assessment Scale Versus Pain And Length Of Stay In Hospitalized Adults With Scd, Wally R. Smith, Daniel M. Sop, Yue May Zhang, Margaret S. Guy, Rehan Qayyum

Department of Medicine Faculty Publications

Objectives

In prior research we demonstrated face, construct, discriminant, and preliminary convergent validity of the newly developed, 10-item Functional Status Pain Assessment (FSPA) scale (0-50) in adult SCD patients hospitalized with VOC. We aimed in this study to further demonstrate criterion validity of the FSPA.

Methods

This was a prospective observational study of 561 daily functional and pain assessments from 91 hospitalized adults with SCD from January 2018 to June of 2019. Principal Component Analysis (PCA) Partial Least Squares (PLS) models determined the relationship between LOS, pain intensity, and FSPA. A Generalized Linear Model (GLM) to quantified the impact of …

Understanding The Syphilis Resurgence Among Females Of Childbearing Age: Informing Prevention Efforts In New York State, Salvatore Currenti

Electronic Theses & Dissertations (2024 - present)

Syphilis is caused by Treponema pallidum and transmitted through direct contact with infected mucosal lesions and via vertical transmission during pregnancy (i.e., congenital). Transmission of syphilis to an infant during pregnancy (i.e., congenital syphilis [CS]) can lead to early fetal death, stillbirth, neonatal death, preterm birth, low birthweight, and congenital infection in infants. The United States (U.S.) is experiencing epidemic increases in both females of reproductive age with syphilis and infants with CS. In New York State (NYS), these trends have also occurred, especially after COVID-19 emergence, and increases in reported cases and incidence rates are comparable to national statistics. …

Prevalence And Spectrum Of Genitourinary Anomalies In Children With Anorectal Malformations, Adnan El-Ghazaly, Tamer A. Wafa, Ahmed M. Negm, Adham W. El-Saied

Mansoura Medical Journal

Background: Anorectal malformations (ARMs) encompass a broad range of congenital defects and are frequently associated with genitourinary (GU) anomalies, which may contribute to long-term morbidity if undetected. This study aimed to determine the prevalence and spectrum of GU anomalies in children with ARMs, describe the urological and genital findings, and assess associations with sex and ARM type.

Patients and Methods: A prospective survey enrolled children diagnosed with ARMs at a tertiary pediatric surgery center. All patients underwent standardized clinical assessment, including focused genital examination and structured imaging. Abdominal ultrasonography (US) served as baseline screening for urinary tract anomalies. Voiding cystourethrogram …

A Community-Informed Survey Identifying Research Priorities For Sex Chromosome Aneuploidies, Matthew Fein

Summer Research Program Abstracts

No abstract provided.

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Myocardial Pi3k-Akt Pathway And Cardiovascular Disease Etiology, Bryson Lovorn, Brennan Kaplan

Student Scholar Symposium

Cardiovascular diseases (CVD) are the leading causes of death in the United States according to recent data from the Center for Disease Control (CDC). Myocardial infarctions, heart attacks, Coronary Artery Disease, ischemic reperfusion injuries, and hypertrophic cardiomyopathies represent common pathologies leading to the hospitalization of Americans. The etiologies of these diseases vary, however there is a common link. The phosphatidylinositol-3-kinase (PI3K) AKT pathway is a cellular pathway that is commonly overexpressed or repressed in myocytes. The human body is in an active limbo to maintain homeostasis. At a cellular level this can be simplified to a delicate balance between cell …

Factors Associated With Stillbirth In Four Selected Hospital Maternity Units: An Unmatched Case-Control Study In Eswatini, Phetsile Thwala, Abednego Ongeso, Rose Maina, Benard Mutwiri

School of Nursing & Midwifery, East Africa

Background: Stillbirth is a substantially under-recognized adverse pregnancy outcome that predominantly occurs in low-middle-income countries. In 2019, Eswatini’s stillbirth rate was 13.2 per 1,000 births, higher than global targets. However, there is limited research on stillbirths in Eswatini. This study analyzed factors associated with stillbirths among women giving birth in four selected hospitals.

Methods: A multi-center unmatched case-control study was conducted using secondary data sources from July 1 to December 31, 2021. Birth records of 268 stillbirths (cases) and 1,151 live births (controls) were selected using consecutive and systematic random sampling, respectively. A piloted data extraction tool was used to …

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Machine Learning–Based Prediction Of Bleeding Risk In Factor Xi Deficiency, Tracey G. Oellerich, Stephanie Reitsma, Alisa Wolberg, Karin Leiderman, Suzanne Sindi

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.

Diagnosis Of Kasabach-Merritt Phenomenon In A Newborn, Kiersten Ricci, Sara Basala, Edward Raykhelson, Aaron Mcguffin

Marshall Journal of Medicine

Kasabach-Merritt Phenomenon (KMP) is a rare and potentially life-threatening coagulopathy that has high bleeding risk and is characterized by severe thrombocytopenia and hypofibrinogenemia. Timely diagnosis and intervention are essential, as untreated kaposiform hemangioendothelioma (KHE) or tufted angioma (TA) associated with Kasabach-Merritt phenomenon (KMP) can result in significant morbidity and mortality..

We report a case of a full-term female neonate who was noted to have a large vascular scalp mass at birth. The tumor was initially misidentified as an infantile and a congenital hemangioma. Upon specialty evaluation at a vascular anomaly center and additional diagnostics, the child was diagnosed with KHE …

Management Of Stone Disease In The Spina Bifida Patient, Meghan F. Davis, Kyle L. Yu, Arun K. Srinivasan

Department of Medicine Faculty Papers

PURPOSE OF THE REVIEW: This review provides a detailed overview of the specifics of presentation, diagnosis, and management of upper and lower urinary tract stone disease for individuals with spina bifida.

RECENT FINDINGS: Recent studies highlight the significant burden of stone disease for spina bifida patients. Individuals with spina bifida require lifelong urologic care. They are more likely to have stone disease and have complications from management. This is a particularly salient issue for patients who have undergone bladder augmentation. Given the frequency and severity of these issues, it is critical that urologists be familiar with the nuances of stone …

Sickle Cell Anemia And Its Impact On The Oral Cavity: Integrative Review, Fernanda Leal, Maria Inês Guimarães, Ambre Natbeth, Inês Lopes Cardoso

International Arab Journal of Dentistry

Introduction: Sickle cell anemia, a hereditary disease, results from a mutation in the β-globin coding gene that makes up hemoglobin, leading to the deformation of erythrocytes. Numerous oral manifestations result from this disease; however, some may not be specific.

Objectives: This study’s objective is to recognize these clinical manifestations of the disease to be able to manage oral health in sickle cell anemia patients.

Methods: this integrative review analyzes scientific literature on the impact of sickle cell anemia on oral cavity. A bibliographic search was performed in PubMed, ScienceDirect, CINAHL Plus (via EBSCO host), Web of Science …

Nevus Sebaceous Of Jadassohn With Secondary Cystic Papillary Hidradenoma, Jordan A. Book, Rosemary Prejean, Jonathan M. Joseph, Nicholas Culotta, Christopher Haas

School of Medicine Faculty Publications

Nevus sebaceous of Jadassohn (NS) is a congenital cutaneous hamartoma that typically presents at birth as a plaque on the face, scalp, or neck. While NS is associated with a risk of neoplastic transformation, the majority of secondary tumors are benign, with the most common being trichoblastomas and syringocystadenomas. In this report, we present a rare case of a 63-year-old male with a right parietal scalp NS with a secondary cystic papillary hidradenoma (HP), which is a benign tumor that almost exclusively occurs in the perineal region. Histopathologic examination was consistent with NS, revealing hyperkeratosis, parakeratosis, increased sebaceous glands, ectopic …

Debunking Myths: Sickle Cell Trait, Crises & Sudden Death, Michael R. Debaun, Corey J. Hebert, Yvette Marie Miller

School of Medicine Faculty Publications

No abstract provided.