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Articles 301 - 330 of 819
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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 GME 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 GME Research Day 2023
No abstract provided.
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 GME 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 GME Research Day 2023
No abstract provided.
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 GME Research Day 2023
No abstract provided.
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 GME Research Day 2023
No abstract provided.
Combatting Bacterial Infections: The Efficacy Of Poly-Gamma-Glutamic Acid On The Prevention Of Nasopharyngeal Infections Among Individuals With Cleft Lip And Palate, Florence Pun
Scripps Senior Theses
Cleft lip and palate (CLP) is a medical condition where children are born with an unfused lip and palate. While surgery is required to fuse the lip and palate, there are other conditions that children with CLP face after surgeries, such as otitis media (OM), speech impediments, and difficulty breathing. Particularly, OM occurs frequently in individuals with CLP because the tensor veli palatini muscles cannot open the Eustachian tube frequently and ventilate the middle ear properly, even after surgery. This thesis is a research proposal to evaluate whether γ-PGA can be used in nasal washes to safely prevent nasopharyngeal infections …
Huntington’S Disease: A Systematic Review And Overview Of Treatments, Madison Mintz
Huntington’S Disease: A Systematic Review And Overview Of Treatments, Madison Mintz
Undergraduate Honors Theses
Huntington’s Disease (HD) is a genetic neurodegenerative disease that is the result of a mutation of the huntingtin gene. The gene is passed in an autosomal dominant fashion and is the result of multiple Cystine, Adenine, and Guanine base repeats. HD symptoms manifest as motor, cognitive, and psychological symptoms that can range of chorea movements to depression or apathy. The disease progresses through various prodromal and clinical stages as the disease starts to manifest. The current technique to diagnose HD is the use of direct genetic testing, which counts the number of repeats. Due to the nature of HD, both …
Enhancing Dental Aligners With Direct 3d Printing Manufacturing, Erin Clark, Lauren Ickes, Tyler Madison
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.
Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen
Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen
Theses and Dissertations--Molecular and Cellular Biochemistry
Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form. During the last 20 years, glycogen has been shown to play pivotal roles in learning and memory, signaling events, viscosity, protein glycosylation, and be acritical hallmark in devastating diseases. Not only, does glycogen play a role as an energy substrate and critical metabolite during energy deprivation, glycogen is central for neurotransmitter homeostasis, tumor initiation, and ontributes to proper protein glycosylation in the brain. In this work, …
Extracorporeal Membrane Oxygenation Cannulation Timing In The Pediatric Myocarditis Population: An Exploratory Analysis From The Extracorporeal Life Support Organization Registry, Maria E Gutierrez, Marc Anders, Danielle Guffey, Susan W Denfield, Shriprasad R Deshpande, Satish K Rajagopal, Ravi R Thiagarajan, Peta M A Alexander, Javier J Lasa
Extracorporeal Membrane Oxygenation Cannulation Timing In The Pediatric Myocarditis Population: An Exploratory Analysis From The Extracorporeal Life Support Organization Registry, Maria E Gutierrez, Marc Anders, Danielle Guffey, Susan W Denfield, Shriprasad R Deshpande, Satish K Rajagopal, Ravi R Thiagarajan, Peta M A Alexander, Javier J Lasa
Faculty, Staff and Students Publications
Children presenting with acute myocarditis may experience rapid clinical deterioration requiring extracorporeal membrane oxygenation (ECMO); however, our understanding of best practices and timing of ECMO initiation are lacking. We explored the relationships between pre-cannulation factors and survival in this high-acuity patient population.
DESIGN: Retrospective review of a large international registry. Primary outcome was survival to hospital discharge, stratified by incident cardiac arrest (CA) prior to ECMO and time to cannulation after intubation.
SETTING AND SUBJECTS: The Extracorporeal Life Support Organization registry was queried for patients less than or equal to 18 years old receiving ECMO support for myocarditis between 2007 …
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 …
Semi-Automated Construction Of Patient-Specific Aortic Valves From Computed Tomography Images, Dan Lior, Charles Puelz, Colin Edwards, Silvana Molossi, Boyce E Griffith, Ravi K Birla, Craig G Rusin
Semi-Automated Construction Of Patient-Specific Aortic Valves From Computed Tomography Images, Dan Lior, Charles Puelz, Colin Edwards, Silvana Molossi, Boyce E Griffith, Ravi K Birla, Craig G Rusin
Faculty, Staff and Students Publications
This paper presents a semi-automatic method for the construction of volumetric models of the aortic valve using computed tomography angiography images. Although the aortic valve typically cannot be segmented directly from a computed tomography angiography image, the method described herein uses manually selected samples of an aortic segmentation derived from this image to inform the construction. These samples capture certain physiologic landmarks and are used to construct a volumetric valve model. As a demonstration of the capabilities of this method, valve models for 25 pediatric patients are created. A selected valve anatomy is used to perform fluid-structure interaction simulations using …
Pediatric Traumatic Hemorrhagic Shock Consensus Conference Research Priorities, Robert T Russell, Melania M Bembea, Matthew A Borgman, Randall S Burd, Barbara A Gaines, Mubeen Jafri, Cassandra D Josephson, Christine M Leeper, Julie C Leonard, Jennifer A Muszynski, Kathleen K Nicol, Daniel K Nishijima, Paul A Stricker, Adam M Vogel, Trisha E Wong, Philip C Spinella
Pediatric Traumatic Hemorrhagic Shock Consensus Conference Research Priorities, Robert T Russell, Melania M Bembea, Matthew A Borgman, Randall S Burd, Barbara A Gaines, Mubeen Jafri, Cassandra D Josephson, Christine M Leeper, Julie C Leonard, Jennifer A Muszynski, Kathleen K Nicol, Daniel K Nishijima, Paul A Stricker, Adam M Vogel, Trisha E Wong, Philip C Spinella
Faculty, Staff and Students Publications
BACKGROUND: Traumatic injury is the leading cause of death in children and adolescents. Hemorrhagic shock remains a common and preventable cause of death in the pediatric trauma patients. A paucity of high-quality evidence is available to guide specific aspects of hemorrhage control in this population. We sought to identify high-priority research topics for the care of pediatric trauma patients in hemorrhagic shock.
METHODS: A panel of 16 consensus multidisciplinary committee members from the Pediatric Traumatic Hemorrhagic Shock Consensus Conference developed research priorities for addressing knowledge gaps in the care of injured children and adolescents in hemorrhagic shock. These ideas were …
Diagnostic Performance Of Point-Of-Use Ultrasound Of Resuscitation Outcomes: A Systematic Review And Meta-Analysis Of 3265 Patients, Maciej Dudek, Lukasz Szarpak, Frank W Peacock, Aleksandra Gasecka, Tomasz Michalski, Pawel Wroblewski, Halla Kaminska, Gabriela Borkowska, Ewa Skrzypek, Adam Smereka, Jaroslaw Meyer-Szary, Sylwia Marciniak, Mariola Malecka
Diagnostic Performance Of Point-Of-Use Ultrasound Of Resuscitation Outcomes: A Systematic Review And Meta-Analysis Of 3265 Patients, Maciej Dudek, Lukasz Szarpak, Frank W Peacock, Aleksandra Gasecka, Tomasz Michalski, Pawel Wroblewski, Halla Kaminska, Gabriela Borkowska, Ewa Skrzypek, Adam Smereka, Jaroslaw Meyer-Szary, Sylwia Marciniak, Mariola Malecka
Faculty, Staff and Students Publications
BACKGROUND: Echocardiography in the setting of resuscitation can provide information as to the cause of the cardiac arrest, as well as indicators of futility. This systematic review and meta-analysis were performed to determine the value of point-of-care ultrasonography (PoCUS) in the assessment of survival for adult patients with cardiac arrest.
METHODS: This meta-analysis was performed in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, EMBASE, Web of Science, Cochrane have been searched from databases inception until March 2nd 2021. The search was limited to adult patients with cardiac arrest and without publication dates or …
Development Of A Chemical Biology Approach To Uncover The Influence Of Sequence Variations On Ces1 Activity In Live Cells, Samuel James Knebel
Development Of A Chemical Biology Approach To Uncover The Influence Of Sequence Variations On Ces1 Activity In Live Cells, Samuel James Knebel
Masters Theses
Drug metabolism is the biochemical process of modifying drugs to detoxify and remove them through enzymatic transformations. These biotransformation’s occur primarily in the liver and are critical to understanding how pharmaceutical compounds are chemically altered inside the human body. Human carboxylesterases (CESs) catalyze the hydrolysis of esters, amides, thioesters, and carbamates. CES-mediated hydrolysis plays an important role in the metabolism of many drugs including the first FDA approved antiviral treatment for COVID-19, remdesivir (Veklury), the seizure control medication rufinamide (Banzel), and the flu antiviral drug oseltamivir (Tamiflu). CES activity is known to be influenced by a variety of factors including …
Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda
Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda
Faculty, Staff and Students Publications
BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …
Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda
Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda
Faculty, Staff and Students Publications
BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …
Hereditary Pulmonary Arterial Hypertension Burden In Pediatrics: A Single Referral Center Experience, Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D Coleman, Dolores H Lopez-Terrada, Daniel J Penny, Yuxin Fan, Nidhy P Varghese
Hereditary Pulmonary Arterial Hypertension Burden In Pediatrics: A Single Referral Center Experience, Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D Coleman, Dolores H Lopez-Terrada, Daniel J Penny, Yuxin Fan, Nidhy P Varghese
Faculty, Staff and Students Publications
INTRODUCTION: Hereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden in the pediatric population remains high yet underreported. The objective of this study is to describe the distribution of mutations found on targeted PAH panel testing at a large pediatric referral center.
METHODS: Children with PAH panel administered by the John Welsh Cardiovascular Diagnostic Laboratory at Texas Children's Hospital and Baylor College of Medicine in Houston, Texas between October 2012 to August 2021 were included into this study. Medical records were retrospectively reviewed for clinical correlation.
RESULTS: Sixty-six children with PAH …
Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Prince J Kannankeril, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Sean M O'Brien, David P Bichel, Eric M Graham, Brian Blasiole, Ashraf Resheidat, Adil S Husain, S Ram Kumar, Jerry L Kirchner, Dianne S Gallup, Joseph W Turek, Mark Bleiweis, Bret Mettler, Alexis Benscoter, Eric Wald, Tara Karamlou, Andrew H Van Bergen, David Overman, Pirooz Eghtesady, Ryan Butts, John S Kim, John P Scott, Brett R Anderson, Michael F Swartz, Patrick I Mcconnell, David F Vener, Jennifer S Li, Stress Network Investigators
Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Prince J Kannankeril, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Sean M O'Brien, David P Bichel, Eric M Graham, Brian Blasiole, Ashraf Resheidat, Adil S Husain, S Ram Kumar, Jerry L Kirchner, Dianne S Gallup, Joseph W Turek, Mark Bleiweis, Bret Mettler, Alexis Benscoter, Eric Wald, Tara Karamlou, Andrew H Van Bergen, David Overman, Pirooz Eghtesady, Ryan Butts, John S Kim, John P Scott, Brett R Anderson, Michael F Swartz, Patrick I Mcconnell, David F Vener, Jennifer S Li, Stress Network Investigators
Faculty, Staff and Students Publications
BACKGROUND: Although perioperative prophylactic glucocorticoids have been used for decades, whether they improve outcomes in infants after heart surgery with cardiopulmonary bypass is unknown.
METHODS: We conducted a multicenter, prospective, randomized, placebo-controlled, registry-based trial involving infants (age) undergoing heart surgery with cardiopulmonary bypass at 24 sites participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database. Registry data were used in the evaluation of outcomes. The infants were randomly assigned to receive prophylactic methylprednisolone (30 mg per kilogram of body weight) or placebo, which was administered into the cardiopulmonary-bypass pump-priming fluid. The primary end point was a ranked composite …
Cystic Fibrosis Transmembrane Conductance Regulator Modulation May Improve Intestinal Inflammation In Adults With Cystic Fibrosis, Lauren G. Culver
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
Med12 Is A Critical Regulator Of Neural Crest Lineage And Nervous System Myelination, Fatma Betul Aksoy Yasar
Dissertations and 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 …
Factors Affecting Rates Of Neurodevelopmental Follow-Up In Infants With Congenital Heart Disease, Sonia Monteiro, Faridis Serrano, Danielle Guffey, Keila N Lopez, Estrella Mazarico De Thomas, Robert G Voigt, Lara Shekerdemian, Shaine A Morris
Factors Affecting Rates Of Neurodevelopmental Follow-Up In Infants With Congenital Heart Disease, Sonia Monteiro, Faridis Serrano, Danielle Guffey, Keila N Lopez, Estrella Mazarico De Thomas, Robert G Voigt, Lara Shekerdemian, Shaine A Morris
Faculty, Staff and Students Publications
BACKGROUND: Neurodevelopmental outcomes programs for children with congenital heart disease (CHD) support early identification and intervention for developmental impairments; however, not all eligible children attend such programs. The purpose of our study was to examine factors, including sociodemographic, associated with cardiac neurodevelopmental outcomes program attendance.
METHODS: Children with CHD born April 2013-April 2018 who underwent cardiac surgery before age 6 months were included. The primary outcome was at least one neurodevelopmental clinic visit, and secondary outcome was number of visits attended during the first two years of life. Predictor variables included maternal and infant characteristics, surgical data, geographic location of …
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
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 …
Cardiac Size, Shape, And Ventricular Contractility In Fetuses At Sea Level With An Estimated Weight Less-Than 10th Centile, Wesley Lee, Lauren M Mack, Roxanna Miremadi, Betul Yilmaz Furtun, Haleh Sangi-Haghpeykar, Greggory R Devore
Cardiac Size, Shape, And Ventricular Contractility In Fetuses At Sea Level With An Estimated Weight Less-Than 10th Centile, Wesley Lee, Lauren M Mack, Roxanna Miremadi, Betul Yilmaz Furtun, Haleh Sangi-Haghpeykar, Greggory R Devore
Faculty, Staff and Students Publications
OBJECTIVES: To investigate cardiac size, shape, and ventricular contractility in fetuses with estimated fetal weight (EFW)(Houston).
METHODS: A prospective ultrasound study examined 37 fetuses with EFWsize, shape, and contractility of both ventricles were analyzed with speckle tracking methods. Z scores were calculated using the mean ± standard deviation (SD) derived from normal controls. Measurements were abnormal if their Z score values were+1.65. The proportion of small fetuses with abnormal parameters was compared to normal reference ranges. Results were compared to a similar published study of small fetuses at higher altitude in Denver.
RESULTS: About one-third of Houston fetuses with EFW(RV) …
Impact Of Udenafil On Echocardiographic Indices Of Single Ventricle Size And Function In Fuel Study Participants, Michael V Di Maria, David J Goldberg, Victor Zak, Chenwei Hu, Adam M Lubert, Andreea Dragulescu, Andrew S Mackie, Andrew Mccrary, Angela Weingarten, Anitha Parthiban, Benjamin Goot, Bryan H Goldstein, Carolyn Taylor, Christopher Lindblade, Christopher J Petit, Christopher Spurney, David M Harrild, Elaine M Urbina, Eleanor Schuchardt, Gi Beom Kim, Ja Kyoung Yoon, Jamie N Colombo, Matthew D Files, Megan Schoessling, Peter Ermis, Pierre C Wong, Ruchira Garg, Sara K Swanson, Shaji C Menon, Shubhika Srivastava, Thor Thorsson, Tiffanie R Johnson, Usha S Krishnan, Stephen M Paridon, Peter C Frommelt
Impact Of Udenafil On Echocardiographic Indices Of Single Ventricle Size And Function In Fuel Study Participants, Michael V Di Maria, David J Goldberg, Victor Zak, Chenwei Hu, Adam M Lubert, Andreea Dragulescu, Andrew S Mackie, Andrew Mccrary, Angela Weingarten, Anitha Parthiban, Benjamin Goot, Bryan H Goldstein, Carolyn Taylor, Christopher Lindblade, Christopher J Petit, Christopher Spurney, David M Harrild, Elaine M Urbina, Eleanor Schuchardt, Gi Beom Kim, Ja Kyoung Yoon, Jamie N Colombo, Matthew D Files, Megan Schoessling, Peter Ermis, Pierre C Wong, Ruchira Garg, Sara K Swanson, Shaji C Menon, Shubhika Srivastava, Thor Thorsson, Tiffanie R Johnson, Usha S Krishnan, Stephen M Paridon, Peter C Frommelt
Faculty, Staff and Students Publications
BACKGROUND: The FUEL trial (Fontan Udenafil Exercise Longitudinal) demonstrated statistical improvements in exercise capacity following 6 months of treatment with udenafil (87.5 mg po BID). The effect of udenafil on echocardiographic measures of single ventricle function in this cohort has not been studied.
METHODS: The 400 enrolled participants were randomized 1:1 to udenafil or placebo. Protocol echocardiograms were obtained at baseline and 26 weeks after initiation of udenafil/placebo. Linear regression compared change from baseline indices of single ventricle systolic, diastolic and global function, atrioventricular valve regurgitation, and mean Fontan fenestration gradient in the udenafil cohort versus placebo, controlling for ventricular …
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
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 …
Cardiac Crises: Cardiac Arrhythmias And Cardiomyopathy During Tango2 Deficiency Related Metabolic Crises, Christina Y Miyake, Erica J Lay, Cheyenne M Beach, Scott R Ceresnak, Caridad M Delauz, Taylor S Howard, Christopher M Janson, Kate Jardine, Prince J Kannankeril, Maina Kava, Jeffrey J Kim, Leonardo Liberman, Scott L Macicek, Tam Dam Pham, Terry Robertson, Santiago O Valdes, Gregory Webster, Sara B Stephens, Diana M Milewicz, Mahshid Azamian, Saad A Ehsan, Kimberly M Houck, Claudia Soler-Alfonso, Kevin E Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R Lalani, Lilei Zhang
Cardiac Crises: Cardiac Arrhythmias And Cardiomyopathy During Tango2 Deficiency Related Metabolic Crises, Christina Y Miyake, Erica J Lay, Cheyenne M Beach, Scott R Ceresnak, Caridad M Delauz, Taylor S Howard, Christopher M Janson, Kate Jardine, Prince J Kannankeril, Maina Kava, Jeffrey J Kim, Leonardo Liberman, Scott L Macicek, Tam Dam Pham, Terry Robertson, Santiago O Valdes, Gregory Webster, Sara B Stephens, Diana M Milewicz, Mahshid Azamian, Saad A Ehsan, Kimberly M Houck, Claudia Soler-Alfonso, Kevin E Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R Lalani, Lilei Zhang
Faculty, Staff and Students Publications
BACKGROUND: TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.
OBJECTIVE: The purpose of this study was to describe TDD-related cardiac crises.
METHODS: Retrospective multicenter chart review was made of TDD patients admitted with cardiac crises, defined as development of ventricular tachycardia (VT), cardiomyopathy, or cardiac arrest during metabolic crises.
RESULTS: Twenty-seven children were admitted for 43 cardiac crises (median age 6.4 years; interquartile range [IQR] 2.4-9.8 years) at 14 centers. During crisis, QTc prolongation occurred in all …
Quality Of Life, Illness Perceptions, And Parental Lived Experiences In Tango2-Related Metabolic Encephalopathy And Arrhythmias, Chaya N Murali, Seema R Lalani, Mahshid S Azamian, Christina Y Miyake, Hadley Stevens Smith
Quality Of Life, Illness Perceptions, And Parental Lived Experiences In Tango2-Related Metabolic Encephalopathy And Arrhythmias, Chaya N Murali, Seema R Lalani, Mahshid S Azamian, Christina Y Miyake, Hadley Stevens Smith
Faculty, Staff and Students Publications
TANGO2 disorder is a rare genetic disease with multi-system effects that causes episodic crises. Quality of life and psychosocial effects of this rare disease have not previously been studied. To examine health-related quality of life (HRQoL), illness perceptions, and lived experience, we surveyed 16 children and 31 parents of children with TANGO2 disorder identified via a disease-specific social media group and research foundation email distribution list. We assessed HRQoL by parent proxy-report and child self-report using the Pediatric Quality of Life Inventory (PedsQL™). Parental perceptions of their child's condition were assessed using the revised illness perceptions questionnaire adapted for TANGO2 …
Associations Between Maternal Reports Of Periconceptional Fever From Miscellaneous Causes And Structural Birth Defects, Nithya Lakshmi Mohan Dass, Lorenzo D Botto, Sarah C Tinker, Mark A Canfield, Richard H Finnell, Michael Shayne Gallaway, Syed Shahrukh Hashmi, Adrienne T Hoyt, Wendy N Nembhard, Dorothy K Waller, National Birth Defects Prevention Study
Associations Between Maternal Reports Of Periconceptional Fever From Miscellaneous Causes And Structural Birth Defects, Nithya Lakshmi Mohan Dass, Lorenzo D Botto, Sarah C Tinker, Mark A Canfield, Richard H Finnell, Michael Shayne Gallaway, Syed Shahrukh Hashmi, Adrienne T Hoyt, Wendy N Nembhard, Dorothy K Waller, National Birth Defects Prevention Study
Faculty, Staff and Students Publications
BACKGROUND: Associations between birth defects and fevers attributed to colds, influenza, and urinary tract infections (UTIs) have been observed in previous studies. Our aim was to study associations between birth defects and fevers attributed to other causes.
METHODS: We analyzed data from 34,862 participants in the National Birth Defects Prevention Study, a multistate case-control study of major structural birth defects. Using multivariable logistic regression, we assessed the association between maternal report of fever during early pregnancy due to causes other than colds, influenza, or UTI and 36 categories of birth defects.
RESULTS: Maternal reports of fever due to other causes …