Open Access. Powered by Scholars. Published by Universities.®
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medical Specialties (528)
- Pediatrics (309)
- Medical Sciences (182)
- Cardiology (153)
- Cardiovascular Diseases (132)
-
- Analytical, Diagnostic and Therapeutic Techniques and Equipment (123)
- Anatomy (106)
- Life Sciences (101)
- Public Health (88)
- Cardiovascular System (64)
- Surgery (63)
- Medical Genetics (54)
- Surgical Procedures, Operative (54)
- Nervous System Diseases (51)
- Internal Medicine (47)
- Obstetrics and Gynecology (45)
- Genetics and Genomics (44)
- Nursing (43)
- Chemicals and Drugs (41)
- Social and Behavioral Sciences (41)
- Mental and Social Health (36)
- Diagnosis (35)
- Maternal and Child Health (33)
- Hemic and Lymphatic Diseases (31)
- Pathological Conditions, Signs and Symptoms (31)
- Neurology (29)
- Investigative Techniques (26)
- Institution
-
- Children's Mercy Kansas City (177)
- HCA Healthcare (108)
- The Texas Medical Center Library (82)
- Rowan University (54)
- Aga Khan University (24)
-
- Thomas Jefferson University (24)
- LSU Health New Orleans (18)
- University of Kentucky (14)
- Himmelfarb Health Sciences Library, The George Washington University (11)
- University of Connecticut (11)
- University of Maryland Francis King Carey School of Law (10)
- University of Nevada, Las Vegas (9)
- Virginia Commonwealth University (9)
- Advocate Health - Midwest (8)
- Edith Cowan University (8)
- Liberty University (8)
- Nova Southeastern University (8)
- Sacred Heart University (8)
- University of Tennessee Health Science Center (8)
- Otterbein University (7)
- University of Nebraska Medical Center (7)
- Utah State University (7)
- Wayne State University (7)
- Touro College and University System (6)
- University of Central Florida (6)
- Dominican University of California (5)
- East Tennessee State University (5)
- Marshall University (5)
- The University of Akron (5)
- Belmont University (4)
- Keyword
-
- Humans (163)
- Female (95)
- Male (90)
- Infant (70)
- Infant, Newborn (65)
-
- Child (63)
- Adolescent (45)
- Treatment Outcome (40)
- Heart Defects, Congenital (39)
- Child, Preschool (37)
- Congenital heart disease (28)
- Heart Ventricles (28)
- Adult (27)
- Prospective Studies (25)
- Echocardiography (24)
- Retrospective Studies (24)
- Pregnancy (23)
- Risk Factors (20)
- Follow-Up Studies (19)
- Postoperative Complications (19)
- Time Factors (17)
- CHD (16)
- Congenital (16)
- Hypoplastic Left Heart Syndrome (16)
- Newborn (16)
- United States (15)
- Middle Aged (14)
- Reproducibility of Results (14)
- Animals (13)
- Norwood Procedures (13)
- Publication Year
- Publication
-
- Manuscripts, Articles, Book Chapters and Other Papers (143)
- Faculty, Staff and Students Publications (63)
- Rowan-Virtua Research Day (39)
- Posters (23)
- Dissertations and Theses (Open Access) (17)
-
- School of Medicine Faculty Publications (17)
- Rowan-Virtua School of Osteopathic Medicine Departmental Research (15)
- Department of Paediatrics and Child Health (10)
- Journal of Health Care Law and Policy (10)
- Research Days (10)
- South Atlantic Division GME Research Day 2024 (10)
- South Atlantic Division GME Research Day 2025 (10)
- South Atlantic Division GME Research Days 2026 (9)
- Honors Scholar Theses (8)
- Journal of Patient-Centered Research and Reviews (8)
- Pediatrics Faculty Publications (8)
- Theses and Dissertations (ETD) (8)
- Community Health Sciences (7)
- Journal of Early Hearing Detection and Intervention (7)
- Senior Honors Theses (7)
- Communication Disorders Faculty Publications (6)
- North Texas GME Research Forum 2026 (6)
- Nursing Student Class Projects (Formerly MSN) (6)
- South Atlantic Division GME Research Day 2023 (6)
- Theses : Honours (6)
- Theses and Dissertations (6)
- HCA Healthcare Journal of Medicine (5)
- Undergraduate Honors Theses (5)
- Clinical Research in Practice: The Journal of Team Hippocrates (4)
- Department of Pediatrics Faculty Papers (4)
- Publication Type
- File Type
Articles 571 - 600 of 819
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
The World Database For Pediatric And Congenital Heart Surgery: The Dawn Of A New Era Of Global Communication And Quality Improvement In Congenital Heart Disease., James D St Louis, Hiromi Kurosawa, Richard A Jonas, Nestor Sandoval, Jorge Cervantes, Christo I Tchervenkov, Jeffery P Jacobs, Kisaburo Sakamoto, Giovanni Stellin, James K Kirklin
The World Database For Pediatric And Congenital Heart Surgery: The Dawn Of A New Era Of Global Communication And Quality Improvement In Congenital Heart Disease., James D St Louis, Hiromi Kurosawa, Richard A Jonas, Nestor Sandoval, Jorge Cervantes, Christo I Tchervenkov, Jeffery P Jacobs, Kisaburo Sakamoto, Giovanni Stellin, James K Kirklin
Surgery Faculty Publications
No abstract provided.
The Effects Of Perinatal Oxycodone Exposure On Behavioral Outcome In A Rodent Model, Thitinart Sithisarn, Sandra J. Legan, Philip M. Westgate, Melinda E. Wilson, Kristen Wellmann, Henrietta S. Bada, Susan Barron
The Effects Of Perinatal Oxycodone Exposure On Behavioral Outcome In A Rodent Model, Thitinart Sithisarn, Sandra J. Legan, Philip M. Westgate, Melinda E. Wilson, Kristen Wellmann, Henrietta S. Bada, Susan Barron
Pediatrics Faculty Publications
Opiate addiction is now a major public health problem. Perinatal insults and exposure to opiates such as morphine in utero are well known to affect development of the hypothalamic–pituitary–adrenal axis of the offspring adversely and are associated with a higher risk of developing neurobehavioral problems. Oxycodone is now one of the most frequently abused pain killers during pregnancy; however, limited data are available regarding whether and how perinatal oxycodone exposure (POE) alters neurobehavioral outcomes of the offspring. We demonstrated that exposure to 0.5 mg/kg/day oxycodone in utero was associated with hyperactivity in adult rats in an open field. No significant …
Risk Of Respiratory Syncytial Virus Hospitalization In The First And Second Years Of Life In Pediatric Patients With Congenital Heart Disease, Deborah Friedman, Pierre Wong
Risk Of Respiratory Syncytial Virus Hospitalization In The First And Second Years Of Life In Pediatric Patients With Congenital Heart Disease, Deborah Friedman, Pierre Wong
NYMC Faculty Publications
No abstract provided.
Sustained Immune Tolerance Induction In Enzyme Replacement Therapy-Treated Crim-Negative Patients With Infantile Pompe Disease, Zoheb Kazi, Ankit Desai, K Berrier, R Troxler, R Wang, O Abdul-Rahman, P Tanpaiboon, N Mendelsohn, E Herskovitz, David Kronn, M Inbar-Feigenberg, C Ward-Melver, M Polan, P Gupta, A Rosenberg, P Kishnani
Sustained Immune Tolerance Induction In Enzyme Replacement Therapy-Treated Crim-Negative Patients With Infantile Pompe Disease, Zoheb Kazi, Ankit Desai, K Berrier, R Troxler, R Wang, O Abdul-Rahman, P Tanpaiboon, N Mendelsohn, E Herskovitz, David Kronn, M Inbar-Feigenberg, C Ward-Melver, M Polan, P Gupta, A Rosenberg, P Kishnani
NYMC Faculty Publications
BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood of success, and long-term efficacy of ITI in a larger cohort remain unknown. METHODS: Clinical data were analyzed for 19 CRIM-negative IPD patients who received ITI with rituximab, methotrexate, and IVIG in the ERT-naive setting (ERT+ITI) and compared to a historical cohort of 10 CRIM-negative IPD patients on ERT monotherapy. RESULTS: ITI was …
Effect Of Provision Of Home-Based Curative Health Services By Public Sector Health-Care Providers On Neonatal Survival: A Community-Based Cluster-Randomised Trial In Rural Pakistan, Sajid Bashir Soofi, Simon Cousens, Ali Turab, Yaqub Wasan, Shah Mohammed, Shabina Arif, Zaid Ahmad Bhatti, Imran Ahmed, Steve Wall, Zulfiqar Ahmed Bhutta
Effect Of Provision Of Home-Based Curative Health Services By Public Sector Health-Care Providers On Neonatal Survival: A Community-Based Cluster-Randomised Trial In Rural Pakistan, Sajid Bashir Soofi, Simon Cousens, Ali Turab, Yaqub Wasan, Shah Mohammed, Shabina Arif, Zaid Ahmad Bhatti, Imran Ahmed, Steve Wall, Zulfiqar Ahmed Bhutta
Department of Paediatrics and Child Health
Background : Although the effectiveness of community mobilisation and promotive care delivered by community health workers in reducing perinatal and neonatal mortality is well established, evidence in support of home-based neonatal resuscitation and infection management is mixed. We assessed the effectiveness of adding training in neonatal bag and mask resuscitation and oral antibiotic therapy for suspected neonatal infections to a basic preventive and promotive interventions package delivered by public sector community-based lady health workers (LHWs) in rural Pakistan.
Methods: We did a cluster-randomised controlled trial in two subdistricts of Naushahro Feroze in rural Sindh, Pakistan, between April 15, 2009, …
Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer
Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer
DePaul Discoveries
Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …
Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn
Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn
Posters
Introduction:
Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.
Methods:
Established CHD patients, >11 y.o. and their parents, were independently surveyed in the outpatient clinic. Participation was voluntary. Cardiomyopathy, electrophysiology and transplant patients were excluded. Scores were assessed as full, partial or incomplete.
Results:
Most (98% parents; 83% adolescents) reported that their cardiologist had provided education. Adolescents provided a full (49%) and partial …
Re-Tubularization Of Highly-Ischemic Anti-Mesenteric Border (Rehab): A Novel Bowel Preservation Technique In Complex Gastroschisis., Richard J. Hendrickson, Ashwini S. Poola, Katherine W. Gonzalez, Joel Lim, Tolulope A. Oyetunji
Re-Tubularization Of Highly-Ischemic Anti-Mesenteric Border (Rehab): A Novel Bowel Preservation Technique In Complex Gastroschisis., Richard J. Hendrickson, Ashwini S. Poola, Katherine W. Gonzalez, Joel Lim, Tolulope A. Oyetunji
Manuscripts, Articles, Book Chapters and Other Papers
Complex gastroschisis with bowel necrosis poses an operative challenge. Surgeons must weigh the decision between resection versus preservation of ischemic bowel. As one of the leading causes of short bowel syndrome, aggressive resection in complicated gastroschisis subjects children to prolonged dependence on parenteral nutrition and its attendant complications. Herein, we describe a novel technique aimed towards bowel preservation in complex gastroschisis patients with severe bowel ischemia with the ultimate goal for enteral autonomy.
Term Neonate With Atypical Hypoxic-Ischemic Encephalopathy Presentation: A Case Report., Nick Townley, Emily Mcnellis, Venkatesh Sampath
Term Neonate With Atypical Hypoxic-Ischemic Encephalopathy Presentation: A Case Report., Nick Townley, Emily Mcnellis, Venkatesh Sampath
Manuscripts, Articles, Book Chapters and Other Papers
We describe a case of atypical hypoxic-ischemic encephalopathy (HIE) in a neonate following a normal pregnancy and delivery who was found to have an umbilical vein thrombosis. The infant arrived to our center with continuous bicycling movement of her lower extremities. She had a continuous electroencephalogram that showed burst suppression and magnetic resonance imaging of the brain showed diffusely abnormal cerebral cortical/subcortical diffusion restriction which may be secondary hypoxic-ischemic injury. Interestingly, a pathology report noted a focal umbilical vein thrombosis appearing to have compressed an umbilical artery with associated arterial dissection and hematoma. Our case illustrates how umbilical venous or …
Brain Injury With Systemic Inflammation In Newborns With Congenital Heart Disease Undergoing Heart Surgery, R Pironkova, Joseph Giamelli, H Seiden, V Parnell, D Gruber, C Sison, K Ojamaa
Brain Injury With Systemic Inflammation In Newborns With Congenital Heart Disease Undergoing Heart Surgery, R Pironkova, Joseph Giamelli, H Seiden, V Parnell, D Gruber, C Sison, K Ojamaa
NYMC Faculty Publications
The potential role of systemic inflammation on brain injury in newborns with congenital heart disease (CHD) was assessed by measuring levels of central nervous system (CNS)-derived proteins in serum prior to and following cardiac surgery. A total of 23 newborns (gestational age, 39±1 weeks) with a diagnosis of CHD that required cardiac surgery with cardiopulmonary bypass (CPB) were enrolled in the current study. Serum samples were collected immediately prior to surgery and 2, 24 and 48 h following CPB, and serum levels of phosphorylated neurofilament-heavy subunit (pNF-H), neuron-specific enolase (NSE) and S100B were analyzed. Systemic inflammation was assessed by measuring …
Congenital Left Ventricle-To-Coronary Sinus Fistula: A Rare Isolated Anomaly Of The Coronary Sinus., Doaa M. Aly, Nikki M. Singh, Sanket Shah
Congenital Left Ventricle-To-Coronary Sinus Fistula: A Rare Isolated Anomaly Of The Coronary Sinus., Doaa M. Aly, Nikki M. Singh, Sanket Shah
Manuscripts, Articles, Book Chapters and Other Papers
Congenital anomalies of the coronary sinus (CS) are very uncommon. They can occur either in isolation or in association with other congenital heart defects. 1 Among those anomalies, congenital fistulae connecting the left ventricle and the CS represent a very rare entity. Most reported cases of CS fistula generally originate in the right coronary artery or left anterior descending coronary artery system. 2 We describe an extremely rare case of an isolated high-pressure congenital left ventricle–to–CS fistula as an anomaly of the CS in an otherwise asymptomatic child. The initial clinical presentation and follow-up, imaging studies, and plan for management …
Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram
Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram
Psychology Faculty Articles and Research
Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we used …
Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han
Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han
Pediatrics Faculty Publications
Genomic sequencing efforts can implicate large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system to validate candidate gene association with pathology is therefore useful. We present such a system employing Drosophila to validate candidate congenital heart disease (CHD) genes. The protocols exploit comprehensive libraries of UAS-GeneX-RNAi fly strains that when crossed into a 4×Hand-Gal4 genetic background afford highly efficient cardiac-specific knockdown of endogenous fly orthologs of human genes. A panel of quantitative assays evaluates phenotypic severity across multiple cardiac parameters. These include developmental lethality, larva and adult heart morphology, …
Zika 2016: A 3-Phase Longitudinal Study Of The Media Impact On Public Attitudes And Behavioral Response Characteristics, Karly Kownslar
Zika 2016: A 3-Phase Longitudinal Study Of The Media Impact On Public Attitudes And Behavioral Response Characteristics, Karly Kownslar
Electronic Theses & Dissertations
Using the Extended Parallel Processing Model (EPPM) as a theoretical framework, the present 3-phase longitudinal study examines the impact of media exposure to Zika information on public perception of the threat severity, personal susceptibility, and behavioral intentions toward the threat of Zika virus between May and November of 2016. A total of 826 participants took an online survey throughout three phases, roughly one month apart. Participants were recruited using Amazon Mechanical Turk and TurkPrime. Measured EPPM concepts include: perceived severity, susceptibility, self- efficacy, response-efficacy, third-person effects, combined with behavioral intentions. Participants also selected the sources from which they …
Audiology Students’ Perception Of Hybrid Simulation Experiences: Qualitative Evaluation Of Debriefing Sessions, Ahmad A. Alanazi, Nannette Nicholson, Samuel R. Atcherson, Clifford A. Franklin, Naveen K. Nagaraj, Michael Anders, Laura Smith-Olinde
Audiology Students’ Perception Of Hybrid Simulation Experiences: Qualitative Evaluation Of Debriefing Sessions, Ahmad A. Alanazi, Nannette Nicholson, Samuel R. Atcherson, Clifford A. Franklin, Naveen K. Nagaraj, Michael Anders, Laura Smith-Olinde
Journal of Early Hearing Detection and Intervention
Simulation-based research is still new in the audiology field and requires more research to better understand students’ perspectives on standardized patients/parents (SPs) and manikins use. There is also limited research about debriefing practices in audiology. This qualitative study used a baby simulator and SPs to evaluate audiology students’ reflection during three debriefing sessions conducted at the University of Arkansas for Medical Science (UAMS) Simulation Center. Seventeen Doctor of Audiology (AuD) students participated in the simulation event, and the data were collected using the transcripts of videotaped debriefing sessions. The qualitative content analysis of the transcripts revealed eight sub-themes: support, compassion, …
The Effects Of Various Therapeutics On Cystine Stone Formation, See Yang
The Effects Of Various Therapeutics On Cystine Stone Formation, See Yang
Dissertations, Masters Theses, Capstones, and Culminating Projects
Cystinuria is an autosomal recessive genetic disorder characterized by the defect of a renal transporter involved in cystine reabsorption. When this transporter is deficient, cystine cannot be broken down and reabsorbed by the body and is excreted via urine in high concentrations. The high levels of cystine present in the urine eventually lead to recurrent cystine urolithiasis due to its inability to solubilize. Despite having various forms of treatments such as thiol pharmaceutical therapies such as tiopronin and urine alkalinizing agents like potassium citrate, only few patients with cystinuria are able to successfully decrease cystine urine concentration. We observed the …
Lymphoid Hematopoiesis And The Role Of B-Cells In Transgenic Mouse Model Of Sickle Cell Disease, Christina Cotte
Lymphoid Hematopoiesis And The Role Of B-Cells In Transgenic Mouse Model Of Sickle Cell Disease, Christina Cotte
University Scholar Projects
Sickle cell disease (SCD) has been shown to be associated with decreased baseline immunity and thus increased susceptibility to infection. I sought to discern possible causes of this by looking into the correlations between SCD and hematopoiesis, the immune system and the neuroendocrine system, and ultimately by conducting experiments surrounding the impaired immune system of SCD. These experiments focused on the potential causes and effects of the diminution of B-1a cells in the SCD spleen. Adoptive transfers, infections with Streptococcus pneumoniae, and histologic imaging were conducted to establish if the diminution of the B-1a cells in the SCD spleen …
A Description Of The Methods Of The Aspirin Supplementation For Pregnancy Indicated Risk Reduction In Nulliparas (Aspirin) Study, Matthew K. Hoffman, Shivaprasad S. Goudar, Bhalachandra S. Kodkany, Norman Goco, Marion Koso-Thomas, Menachem Miodovnik, Elizabeth M. Mcclure, Dennis D. Wallace, Jennifer J. Emingway-Foday, Antoinette Tshefu, Adrien Lokangaka, Carl L. Bose, Elwyn Chomba, Musaku Mwenechanya, Waldemar A. Carlo, Ana Garces, Nancy F. Krebs, K. Michael Hambidge, Sarah Saleem, Robert L. Goldenberg, Archana Patel, Patricia L. Hibberd, Fabian Esamai, Edward A. Liechty, Robert Silver, Richard J. Derman
A Description Of The Methods Of The Aspirin Supplementation For Pregnancy Indicated Risk Reduction In Nulliparas (Aspirin) Study, Matthew K. Hoffman, Shivaprasad S. Goudar, Bhalachandra S. Kodkany, Norman Goco, Marion Koso-Thomas, Menachem Miodovnik, Elizabeth M. Mcclure, Dennis D. Wallace, Jennifer J. Emingway-Foday, Antoinette Tshefu, Adrien Lokangaka, Carl L. Bose, Elwyn Chomba, Musaku Mwenechanya, Waldemar A. Carlo, Ana Garces, Nancy F. Krebs, K. Michael Hambidge, Sarah Saleem, Robert L. Goldenberg, Archana Patel, Patricia L. Hibberd, Fabian Esamai, Edward A. Liechty, Robert Silver, Richard J. Derman
Community Health Sciences
Background: Preterm birth (PTB) remains the leading cause of neonatal mortality and long term disability throughout the world. Though complex in its origins, a growing body of evidence suggests that first trimester administration of low dose aspirin (LDA) may substantially reduce the rate of PTB.
Methods: Hypothesis: LDA initiated in the first trimester reduces the risk of preterm birth. Study Design Type: Prospective randomized, placebo-controlled, double-blinded multi-national clinical trial conducted in seven low and middle income countries. Trial will be individually randomized with one-to-one ratio (intervention/control) Population: Nulliparous women between the ages of 14 and 40, with a …
A Novel Method Of Measuring Fractional Exhaled Nitric Oxide In Tracheostomized Ventilator-Dependent Children., Vydehi R. Murthy, Hugo Escobar, Michael Norberg, Charisse I. Lachica, Linda L. Gratny, Ashley K. Sherman, William E Truog, Winston M. Manimtim
A Novel Method Of Measuring Fractional Exhaled Nitric Oxide In Tracheostomized Ventilator-Dependent Children., Vydehi R. Murthy, Hugo Escobar, Michael Norberg, Charisse I. Lachica, Linda L. Gratny, Ashley K. Sherman, William E Truog, Winston M. Manimtim
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: The lower airway concentration of fractional exhaled nitric oxide (FENO) is unknown in children with chronic lung disease of infancy who have tracheostomy for long-term mechanical ventilation. We aimed to evaluate an online method of measuring FENO in a cohort of ventilator-dependent children with a tracheostomy and to explore the relationship between the peak FENO concentration (FENO peak) and the degree of respiratory support using the respiratory severity score.
METHODS: We conducted a prospective cross-sectional study in 31 subjects who were receiving long-term respiratory support through a tracheostomy. We measured the FENO peak and FENO plateau concentration from the …
Role Of Biomechanical Forces In Hyperfiltration-Mediated Glomerular Injury In Congenital Anomalies Of The Kidney And Urinary Tract., Tarak Srivastava, Ganesh Thiagarajan, Uri S. Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T. Mccarthy, Virginia J. Savin, Mukut Sharma
Role Of Biomechanical Forces In Hyperfiltration-Mediated Glomerular Injury In Congenital Anomalies Of The Kidney And Urinary Tract., Tarak Srivastava, Ganesh Thiagarajan, Uri S. Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T. Mccarthy, Virginia J. Savin, Mukut Sharma
Manuscripts, Articles, Book Chapters and Other Papers
Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear. We re-examine the phenomenon of hyperfiltration in the context of biomechanical forces with special reference to glomerular podocytes. Capillary stretch exerts tensile …
Persistent Neurobehavioral Traits In A Mouse Model Of Prenatal Ethanol Exposure, Jill M. Lawrence
Persistent Neurobehavioral Traits In A Mouse Model Of Prenatal Ethanol Exposure, Jill M. Lawrence
Neuroscience Honors Papers
Fetal Alcohol Spectrum Disorders (FASD) effect an estimated 2% of the population, causing a range of symptoms: from craniofacial defects to inhibited cortical growth (May, et al., 2009; Murawski, et al., 2015). Impaired medial forebrain function apparent in FASD is associated with lifelong cognitive behavioral deficits, but these consequences may be avoided with early diagnosis and intervention (Streissguth, et al., 2004). Our goal is to identify early neurobehavioral abnormalities that persist into adulthood that could potentially serve as early indicators for FASD. Mouse models of prenatal ethanol exposure were developed using a voluntary drinking paradigm that introduced a sweetened ethanol …
Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong
Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets.
METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy.
RESULTS: A total of 91,024 variants were identified. By filtering out 'normal variants' against those of the 1000 Genomes Project, we identified 12,741 remaining variants which are potentially associated with RES plus …
A Rare Case Of Vascular Ring And Coarctation Of The Aorta In Association With Charge Syndrome., Jonathan B. Wagner, Joshua Q. Knowlton, Peter Pastuszko, Sanket Shah
A Rare Case Of Vascular Ring And Coarctation Of The Aorta In Association With Charge Syndrome., Jonathan B. Wagner, Joshua Q. Knowlton, Peter Pastuszko, Sanket Shah
Manuscripts, Articles, Book Chapters and Other Papers
A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case …
Maximizing Health Outcomes In A Medical Home For Children With Medical Complexity: The Beacon Program., Ingrid Larson, Amber Hoffman, Michael Artman
Maximizing Health Outcomes In A Medical Home For Children With Medical Complexity: The Beacon Program., Ingrid Larson, Amber Hoffman, Michael Artman
Manuscripts, Articles, Book Chapters and Other Papers
No abstract provided.
The Randomized, Controlled Trial Of Late Surfactant: Effects On Respiratory Outcomes At 1-Year Corrected Age., Roberta L. Keller, Eric C. Eichenwald, Anna Maria Hibbs, Elizabeth E. Rogers, Katherine C. Wai, Dennis M. Black, Philip L. Ballard, Jeanette M. Asselin, William E Truog, Jeffrey D. Merrill, Mark C. Mammel, Robin H. Steinhorn, Rita M. Ryan, David J. Durand, Catherine M. Bendel, Ellen M. Bendel-Stenzel, Sherry E. Courtney, Ramasubbareddy Dhanireddy, Mark L. Hudak, Frances R. Koch, Dennis E. Mayock, Victor J. Mckay, Jennifer Helderman, Nicolas F. Porta, Rajan Wadhawan, Lisa Palermo, Roberta A. Ballard, Tolsurf Study Group
The Randomized, Controlled Trial Of Late Surfactant: Effects On Respiratory Outcomes At 1-Year Corrected Age., Roberta L. Keller, Eric C. Eichenwald, Anna Maria Hibbs, Elizabeth E. Rogers, Katherine C. Wai, Dennis M. Black, Philip L. Ballard, Jeanette M. Asselin, William E Truog, Jeffrey D. Merrill, Mark C. Mammel, Robin H. Steinhorn, Rita M. Ryan, David J. Durand, Catherine M. Bendel, Ellen M. Bendel-Stenzel, Sherry E. Courtney, Ramasubbareddy Dhanireddy, Mark L. Hudak, Frances R. Koch, Dennis E. Mayock, Victor J. Mckay, Jennifer Helderman, Nicolas F. Porta, Rajan Wadhawan, Lisa Palermo, Roberta A. Ballard, Tolsurf Study Group
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVE: To determine the effects of late surfactant on respiratory outcomes determined at 1-year corrected age in the Trial of Late Surfactant (TOLSURF), which randomized newborns of extremely low gestational age (≤28 weeks' gestational age) ventilated at 7-14 days to late surfactant and inhaled nitric oxide vs inhaled nitric oxide-alone (control).
STUDY DESIGN: Caregivers were surveyed in a double-blinded manner at 3, 6, 9, and 12 months' corrected age to collect information on respiratory resource use (infant medication use, home support, and hospitalization). Infants were classified for composite outcomes of pulmonary morbidity (no PM, determined in infants with no reported …
Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer
Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer
Manuscripts, Articles, Book Chapters and Other Papers
No abstract provided.
External Cardioversion Of Supraventricular Tachycardia In Omphalo-Thoracopagus Conjoined Twins., M Rizwan Afzal, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic, Andrea L. Miles, Sanket Shah, John Papagiannis
External Cardioversion Of Supraventricular Tachycardia In Omphalo-Thoracopagus Conjoined Twins., M Rizwan Afzal, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic, Andrea L. Miles, Sanket Shah, John Papagiannis
Manuscripts, Articles, Book Chapters and Other Papers
No abstract provided.
Genetic Drivers Of Kidney Defects In The Digeorge Syndrome., Esther Lopez-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina P. Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David A. Fasel, Katarina Vukojevic, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S. Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. Mcdonald-Mcginn, Terrence B. Crowley, Elaine H. Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S. Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M. Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Cecile Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Genetic Drivers Of Kidney Defects In The Digeorge Syndrome., Esther Lopez-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina P. Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David A. Fasel, Katarina Vukojevic, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S. Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. Mcdonald-Mcginn, Terrence B. Crowley, Elaine H. Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S. Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M. Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Cecile Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.
METHODS: We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice.
RESULTS: We identified heterozygous deletions of 22q11.2 in 1.1% …
Infection Control In Labor And Delivery Room, Learning From The Small Hospital Based Project, Savera Aziz Ali, Sumera Aziz Ali
Infection Control In Labor And Delivery Room, Learning From The Small Hospital Based Project, Savera Aziz Ali, Sumera Aziz Ali
School of Nursing & Midwifery
Background: It has been estimated that around 36% of the neonatal deaths occur due to infection in the lower and middle income countries. Infection control is a more substantial area of concern, particularly in Labor and delivery room. Multiple factors can cause infection in the labor room, therefore it is important to assess various factors of maternal and neonatal infection. Hence we explored multiple factors through this project and developed the action plan to address those factors effectively.
Methods: During our Leadership and Management course, we conducted a project in Labor room pertaining to a prevalent issue. The whole process …
Reexamining The Hypoglycemia Fear Survey For Parents Of Young Children In A Sample Of Children Using Insulin Pumps., Susana R. Patton, Amy E. Noser, Mark A. Clements, Lawrence M. Dolan, Scott W. Powers
Reexamining The Hypoglycemia Fear Survey For Parents Of Young Children In A Sample Of Children Using Insulin Pumps., Susana R. Patton, Amy E. Noser, Mark A. Clements, Lawrence M. Dolan, Scott W. Powers
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: We update the psychometric properties of the Hypoglycemia Fear Survey-Parents of Young Children (HFS-PYC), a 26-item measure of parents' hypoglycemia fear for young children using an insulin pump.
METHODS: We combined three similar datasets for the analyses. The data analyzed included parents' responses to the HFS-PYC and a demographic form. For a subset of children (n = 91), we also analyzed self-monitoring of blood glucose data. We used confirmatory factor analysis (CFA) to confirm the measure's original factor structure. Additional analyses examined reliability and validity of a revised HFS-PYC for parents of young children using pumps.
RESULTS: We analyzed …