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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 30 of 57
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee
Gulf Coast Division Research Day 2024
No abstract provided.
A Rare Case Of Persistent Left Superior Vena Cava Discovered During An Intracardiac Echocardiography Procedure, Riddhi H. Patel, Bilal Ayub
A Rare Case Of Persistent Left Superior Vena Cava Discovered During An Intracardiac Echocardiography Procedure, Riddhi H. Patel, Bilal Ayub
North Texas Research Forum 2023
Background: Isolated persistent left superior vena cava (PLSVC), also known as persistent left superior vena cava (SVC) with absent right SVC, affects 0.09-0.13% of the population. Right SVC is present in the majority of people with left SVC. Rarely, the right SVC may be missing. Here, we discuss a rare case of PLSVC found incidentally in a patient with paroxysmal atrial fibrillation (PAF).
Case: A 63-year-old female patient with a history of Paroxysmal Atrial flutter (AFL) and atrial fibrillation (AF) on apixaban, HTN, and HLD was brought to the electrophysiology lab for electrophysiology study (EPS) and AF/AFL ablation due to …
Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard
Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard
North Texas Research Forum 2023
Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas, most commonly seen in patients with Neurofibromatosis type 1 (NF1), that are characterized as aggressive with high rate of local recurrence. Among NF1 patients, the risk of developing MNPSTs is approximately 8-13% over a lifetime. Primary MPNST is exceedingly rare, of which the vast majority are concentrated in the head and neck region. Here, we present a case of a 40-year-old male with NF1 who presented with a giant MPNST that originated in the right proximal femur. The mass was treated with complete surgical resection with right hip disarticulation. In a …
A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle
A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle
North Texas Research Forum 2023
Von Gierke disease is an inherited Glycogen Storage disease - type 1 resulting from deficiencies in the specific enzymes glucose 6 phosphatase(1a), and/or glucose 6 phosphate translocase(1b) glycogen metabolism pathway. Von Gierke disease is commonly seen in the pediatric population and is known for his hepatic and renal manifestations. Here we discuss a rare case of Von Gierke’s disease causing some rare cardiac manifestations. 41yo M with PMHx significant for Von Gierke type 1a, HFrEF complicated by VT s/p ICD, HTN who presented for complaints of continued SOB with new muscle soreness. On arrival, lactic acid was elevated at 5.2, …
The Domino Effect: Spontaneous Abortions As A Sequela Of Eisenmenger Syndrome, Riddhiben Patel, Anas Hamadeh, Laura Montoya, Senthil Thambidorai
The Domino Effect: Spontaneous Abortions As A Sequela Of Eisenmenger Syndrome, Riddhiben Patel, Anas Hamadeh, Laura Montoya, Senthil Thambidorai
North Texas Research Forum 2023
Background: Eisenmenger's syndrome (ES) is a congenital cardiac abnormality in which a significant chronic left-to-right shunt results in pulmonary arterial hypertension and a reversal of the shunting direction. A woman with ES should ideally avoid conception given the increased risk of unexpected fetal demise and maternal mortality. Case: We present a case of a 35-year-old female patient G3, P0, at 9 weeks gestation with reported PMHx of erythrocytosis and spontaneous abortions who presented to the hospital with complaints of vaginal bleeding and worsening SOB. She was noted to have a Hct of 70 and a Hb of 23.8, with SaO2 …
Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman
Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman
South Atlantic Division 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
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 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
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 …
The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman
The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman
Undergraduate Research 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 …
Noncompaction Cardiomyopathy: A Catastrophic Cause Of Heart Failure, William Zvagelsky, Ajay Iyer, Rebecca Kurian, Brent Wu, Minar Rane, Rajendran Sabapathy
Noncompaction Cardiomyopathy: A Catastrophic Cause Of Heart Failure, William Zvagelsky, Ajay Iyer, Rebecca Kurian, Brent Wu, Minar Rane, Rajendran Sabapathy
Continental, MidAmerica, & Mountain Divisions 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
Congenital Mesenteric Defect Results In Internal Hernia In An Adult With Obstructed Small Bowel, Tameem Jamal, Adina Mcnair, Saptarshi Biswas
South Atlantic Division Research Day 2023
No abstract provided.
Appendicitis Mimicry Of A Rare Case Of Early Diagnosed Dolichocolon, A Case Report, Kayla Brown, Mercedes Jolley, Dean Kocay
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
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
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
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
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
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
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
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
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
A Case Report On Cervical Insufficiency And Ehlers Danlos Syndrome, Elizabeth Bogaty, Judy Bowers
South Atlantic Division Research Day 2023
No abstract provided.
Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach
Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach
Child Health Research Institute Pediatric Research Forum
No abstract provided.
Ataxia Pancytopenia Syndrome Associated Ocular Albinism: A Clinical Vignette, Dru Curtis, Catherine Boon, Stephanie Ryan, Nausheen Khuddus
Ataxia Pancytopenia Syndrome Associated Ocular Albinism: A Clinical Vignette, Dru Curtis, Catherine Boon, Stephanie Ryan, Nausheen Khuddus
North Florida Division Research Day 2022
No abstract available.
Congenital Non-Union Of C1 Leading To Quadriplegia Following A Roller Coaster Ride, Kelly Champlin, Saptarshi Biswas
Congenital Non-Union Of C1 Leading To Quadriplegia Following A Roller Coaster Ride, Kelly Champlin, Saptarshi Biswas
South Atlantic Division Research Day 2022
No abstract provided.
Congenital Lobar Emphysema: A Rare Cause Of Mortality In Premature Infants, Brantley Grimball, Allison Thompson
Congenital Lobar Emphysema: A Rare Cause Of Mortality In Premature Infants, Brantley Grimball, Allison Thompson
South Atlantic Division Research Day 2022
No abstract provided.
A Sudden Fall: Hypokalemic Familial Thyrotoxic Periodic Paralysis, Haroutiun Hamzoian, Aswin Srinivasan, Reuben Plasencia, Branden Wilson, Rajeev Raghavan
A Sudden Fall: Hypokalemic Familial Thyrotoxic Periodic Paralysis, Haroutiun Hamzoian, Aswin Srinivasan, Reuben Plasencia, Branden Wilson, Rajeev Raghavan
Gulf Coast Division Research Day 2022
No abstract provided.
Splenectomy In A Patient With Von Willebrand Disease And Itp. Hemostatic Challenges, Perioperative Resuscitation, Resource Allocation And Challenges Of Management In A Regional L1 Center, Taylor Locklear, Akash Patel, Saptarshi Biswas
Splenectomy In A Patient With Von Willebrand Disease And Itp. Hemostatic Challenges, Perioperative Resuscitation, Resource Allocation And Challenges Of Management In A Regional L1 Center, Taylor Locklear, Akash Patel, Saptarshi Biswas
South Atlantic Division Research Day 2022
No abstract provided.
Acute Chest Syndrome In Sickle Cell Disease In The Setting Of Covid-19 Pneumonia, Michael K. Espino, Nioti Karim
Acute Chest Syndrome In Sickle Cell Disease In The Setting Of Covid-19 Pneumonia, Michael K. Espino, Nioti Karim
Gulf Coast Division Research Day 2022
No abstract provided.
A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston
A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston
Capital Division Virtual Research Day 2020
Simpson-Golabi-Behmelsyndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmelsyndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.
Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller
Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller
West Florida Division Virtual Research Day 2020
No abstract provided.