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Articles 91 - 120 of 1737
Full-Text Articles in Medicine and Health Sciences
Early Postnatal Polymerase Chain Reaction Testing In The Identification Of Perinatal Transmission Of Hepatitis C Virus, Mona Prasad, Grecio J Sandoval, George R Saade, Brenna L Hughes, Rebecca G Clifton, Uma M Reddy, Anna Bartholomew, Ashley Salazar, Edward K Chien, Alan T N Tita, John M Thorp, Torri D Metz, Ronald J Wapner, Vishakha Sabharwal, Hyagriv N Simhan, Geeta K Swamy, Kent D Heyborne, Baha M Sibai, William A Grobman, Yasser Y El-Sayed, Brian M Casey, Samuel Parry, George A Macones
Early Postnatal Polymerase Chain Reaction Testing In The Identification Of Perinatal Transmission Of Hepatitis C Virus, Mona Prasad, Grecio J Sandoval, George R Saade, Brenna L Hughes, Rebecca G Clifton, Uma M Reddy, Anna Bartholomew, Ashley Salazar, Edward K Chien, Alan T N Tita, John M Thorp, Torri D Metz, Ronald J Wapner, Vishakha Sabharwal, Hyagriv N Simhan, Geeta K Swamy, Kent D Heyborne, Baha M Sibai, William A Grobman, Yasser Y El-Sayed, Brian M Casey, Samuel Parry, George A Macones
Faculty, Staff and Student Publications
In this study, a single hepatitis C virus (HCV) RNA at 2-6 months was sensitive and specific (86.7% and 95% confidence interval [CI], 62.1%-96.3% and 100% and 95% CI, 98.8%-100%, respectively) in identifying perinatal transmission of HCV. No cases of perinatal infection requiring treatment were missed.
Time Trends In The Male To Female Ratio For Autism Incidence: Population Based, Prospectively Collected, Birth Cohort Study, Caroline Fyfe, Henric Winell, Joseph Dougherty, David H Gutmann, Alexander Kolevzon, Natasha Marrus, Kristina Tedroff, Tychele N Turner, Lauren A Weiss, Benjamin H K Yip, Weiyao Yin, Sven Sandin
Time Trends In The Male To Female Ratio For Autism Incidence: Population Based, Prospectively Collected, Birth Cohort Study, Caroline Fyfe, Henric Winell, Joseph Dougherty, David H Gutmann, Alexander Kolevzon, Natasha Marrus, Kristina Tedroff, Tychele N Turner, Lauren A Weiss, Benjamin H K Yip, Weiyao Yin, Sven Sandin
2020-Current year OA Pubs
OBJECTIVES: To examine changes in the male to female ratio in diagnoses of autism spectrum disorder (ASD) over a 35 year period, providing temporal trends in diagnosis (incidence rate), the male to female ratio, and the age-cohort specific cumulative male to female ratio (cMFR).
DESIGN: Population based, prospectively collected birth cohort study.
PARTICIPANTS: 2 756 779 liveborn children recorded in the Swedish medical birth register between 1985 and 2020.
SETTING: Sweden.
MAIN OUTCOME MEASURE: Age-period cohort analysis investigating associations between ASD and age at diagnosis, calendar period, birth cohort, and sex, quantified by incidence rate ratios and associated two sided …
Clinical Features Of Infantile Epileptic Spasms Syndrome: A Systematic Review, Xiao Meng, Danielle S Takacs, Yashaswini Kelagere, Zihan Zhang, Sanjanaa Seshadri, Jiyeon Cha, Ming Li, Lei-Shih Chen
Clinical Features Of Infantile Epileptic Spasms Syndrome: A Systematic Review, Xiao Meng, Danielle S Takacs, Yashaswini Kelagere, Zihan Zhang, Sanjanaa Seshadri, Jiyeon Cha, Ming Li, Lei-Shih Chen
Faculty, Staff and Students Publications
Introduction
Infantile Epileptic Spasms Syndrome (IESS) is a severe epilepsy in children between one month and two years of age. Urgent referral of possible IESS cases from pediatricians and family physicians who care for children to neurologists for diagnosis and treatment has been shown to significantly improve patient health outcomes. Yet, a comprehensive list of IESS clinical features is lacking. We conducted a systematic review of studies to report IESS clinical features.
Methods
Articles from the MEDLINE Complete and Embase databases were searched from the earliest years of databases availability (1979) to July 31, 2024. We followed the Preferred Reporting …
Sleep-Disordered Breathing In Newborns After Myelomeningocele Repair, Renée A Shellhaas, Fauziya Hassan, Thornton A Mason, Jagruti Anadkat, Ellen Bendel-Stenzel, Stephanie Eyerly-Webb, Cindy K Jon, Robin M Lloyd, Julie S Moldenhauer, Ramesha Papanna, John E Pascoe, Stefanie Riddle, Regina Reynolds, Brandon G Rocque, Narong Simakajornboon, Marjorie C Treadwell, R Bradley Troxler, Lydia S Youmans, Niko A Kaciroti, Harlan Mccaffery, Hemant A Parmar, Lora Merley, Stephanie Md Rau, Ronald D Chervin, John D E Barks
Sleep-Disordered Breathing In Newborns After Myelomeningocele Repair, Renée A Shellhaas, Fauziya Hassan, Thornton A Mason, Jagruti Anadkat, Ellen Bendel-Stenzel, Stephanie Eyerly-Webb, Cindy K Jon, Robin M Lloyd, Julie S Moldenhauer, Ramesha Papanna, John E Pascoe, Stefanie Riddle, Regina Reynolds, Brandon G Rocque, Narong Simakajornboon, Marjorie C Treadwell, R Bradley Troxler, Lydia S Youmans, Niko A Kaciroti, Harlan Mccaffery, Hemant A Parmar, Lora Merley, Stephanie Md Rau, Ronald D Chervin, John D E Barks
Faculty, Staff and Student Publications
Background & objective: Sleep-disordered breathing (SDB) may be a remediable contributor to abnormal cognitive outcomes for children with myelomeningocele. We investigated the frequency of SDB among neonates with fetal vs postnatal myelomeningocele repair.
Methods: In this nine-center, prospective, observational study, neonates with myelomeningocele born at more than 30 weeks gestational age underwent a 10-hour bedside polysomnogram at at least 35 weeks postmenstrual age, before hospital discharge. The primary outcome was SDB severity, reflected by the apnea-hypopnea index (AHI; number of respiratory events per hour of sleep). Decisions regarding surgical timing (fetal vs postnatal), technique (open fetal vs fetoscopic approach), and …
Antenatal Prediction Of Early Cord Clamping Among Infants Born Extremely Preterm, Anup C Katheria, Rebecca A Dorner, William A Grobman, Matthew A Rysavy, Jenny Koo, Myra H Wyckoff, Grecio Sandoval, Sara B Demauro, Abhik Das, Henry C Lee, Michael Cotten, Laura Calvo, Shampa Saha
Antenatal Prediction Of Early Cord Clamping Among Infants Born Extremely Preterm, Anup C Katheria, Rebecca A Dorner, William A Grobman, Matthew A Rysavy, Jenny Koo, Myra H Wyckoff, Grecio Sandoval, Sara B Demauro, Abhik Das, Henry C Lee, Michael Cotten, Laura Calvo, Shampa Saha
Faculty, Staff and Student Publications
Objective: To identify prenatal risk factors associated with early cord clamping (ECC) in infants born extremely preterm (22-28 weeks) and to use these factors to predict which infants have the highest risk of ECC.
Study design: Stepwise logistic regression and classification and regression tree analysis were performed to identify variables most associated with ECC and to build a parsimonious model to identify infants born preterm who are at the highest risk of ECC.
Results: There were 12 622 infants eligible for analysis (ECC, n = 8465 vs deferred cord clamping [DCC], n = 4157). In the classification and regression tree …
Striatum Volume And Affective Symptomatology Are Associated With Sleep In Schizophrenia, Alia R Warner, Xiaoming Du, Yizhou Ma, Kyle R Noll, Si Gao, Bhim Adhikari, Bruno Kluwe-Schiavon, Alina Siatka, Anya Savransky, Peter Kochunov, L Elliot Hong
Striatum Volume And Affective Symptomatology Are Associated With Sleep In Schizophrenia, Alia R Warner, Xiaoming Du, Yizhou Ma, Kyle R Noll, Si Gao, Bhim Adhikari, Bruno Kluwe-Schiavon, Alina Siatka, Anya Savransky, Peter Kochunov, L Elliot Hong
Faculty, Staff and Student Publications
Sleep dysfunction is common among individuals with schizophrenia spectrum disorders (SSD). Sleep duration and other sleep quality metrics are associated with worse patient clinical and social outcomes. We examined if accumulative stress, gray matter structural volume measured with high-resolution structural brain MRI, diffusion tensor imaging measures of white matter microstructure, and psychopathology (for the schizophrenia group) may act as predictors of sleep quality and compared individuals with SSD (N = 101) and healthy controls (N = 86). We created an adjusted Pittsburgh Sleep Quality Index (PSQI-A) score to measure sleep quality and account for abnormally long sleep duration as dysfunctional. …
Urinary Biomarkers Of Acute Kidney Injury In Neonates < 25 Weeks’ Gestation: A Pilot Study, Jazmin D Humphreys, Aman Jain, Amir M Khan, Tina O Findley, Mar Romero-Lopez, Sepideh Saroukhani, Rita D Swinford, Matthew A Rysavy
Urinary Biomarkers Of Acute Kidney Injury In Neonates < 25 Weeks’ Gestation: A Pilot Study, Jazmin D Humphreys, Aman Jain, Amir M Khan, Tina O Findley, Mar Romero-Lopez, Sepideh Saroukhani, Rita D Swinford, Matthew A Rysavy
Faculty, Staff and Student Publications
Background: Acute kidney injury (AKI) occurs in 30% of premature neonates and is associated with adverse outcomes that may be mitigated with early detection. Diagnosis of AKI relies on serum creatinine (SCr) which has several limitations, including lack of sensitivity and specificity. There are limited data on the utility of alternative urine biomarkers to predict AKI in neonates born at < 25 weeks' gestation.
Methods: Urine was collected from neonates born at < 25 weeks' gestation during the first postnatal week. Two urine AKI biomarkers, neutrophil gelatinase-associated lipocalin (NGAL) and epidermal growth factor (EGF) were measured. Study participants were prospectively followed to determine development of AKI, defined by the neonatal modified Kidney Disease-Improving Global Outcomes (KDIGO) criteria, during the first postnatal week. The association of NGAL and EGF with AKI was analyzed using mixed-effect linear regression models adjusting for gestational age at birth.
Results: A total of 26 neonates were enrolled in this study. After adjusting for gestational age at birth, the mean difference in log-transformed biomarkers at three time points for urine NGAL and …
Factors Associated With Rare Pediatric Cancer Trial Enrollment: A Report From The Children's Oncology Group Rare Tumors Committee, Brian R Englum, Jin Piao, Lindsay Younis, Reto M Baertschiger, Kenneth S Chen, Emily Christison-Lagay, Hetal Dholaria, Robyn Gartrell, M John Hicks, Junne Kamihara, Sarah G Mitchell, Manuela Orjuela-Grimm, Farzana Pashankar, Samara L Potter, Jennifer H Aldrink, Jeremy Rosenblum, Michael R Sargen, Kris Ann P Schultz, Brittani K N Seynnaeve, Mary Wedekind, Theodore W Laetsch
Factors Associated With Rare Pediatric Cancer Trial Enrollment: A Report From The Children's Oncology Group Rare Tumors Committee, Brian R Englum, Jin Piao, Lindsay Younis, Reto M Baertschiger, Kenneth S Chen, Emily Christison-Lagay, Hetal Dholaria, Robyn Gartrell, M John Hicks, Junne Kamihara, Sarah G Mitchell, Manuela Orjuela-Grimm, Farzana Pashankar, Samara L Potter, Jennifer H Aldrink, Jeremy Rosenblum, Michael R Sargen, Kris Ann P Schultz, Brittani K N Seynnaeve, Mary Wedekind, Theodore W Laetsch
Faculty, Staff and Students Publications
Background: Over 90% of US children with cancer are treated at Children's Oncology Group (COG) centers, which seek to maximize enrollment in therapeutic and biobanking studies. Rare cancers have demonstrated lower than expected COG enrollment. We evaluated trends in COG rare cancer enrollment compared to US incidence from Surveillance, Epidemiology, and End Results (SEER) registries, examining the impact of COG therapeutic trials and Project:EveryChild, a cancer biobank/registry.
Procedure: COG and SEER data from 2002 to 2020 were queried for US patients younger than 18 years old with adrenocortical carcinoma (ACC), nasopharyngeal carcinoma (NPC), retinoblastoma (RB), thyroid carcinoma, and melanoma. We …
Dolichocolon Is Common In Pediatric Gastroenterology Patients With Constipation And Associated Complaints, David Simon, Donovan Berens, Raul Zambrana Valenzuela, Arvind Mohan, Partha Chakraborty, Timot Kellermayer, Eric H Chiou, Craig L Jensen, Ricardo A Arbizu, Marla B K Sammer, Richard Kellermayer
Dolichocolon Is Common In Pediatric Gastroenterology Patients With Constipation And Associated Complaints, David Simon, Donovan Berens, Raul Zambrana Valenzuela, Arvind Mohan, Partha Chakraborty, Timot Kellermayer, Eric H Chiou, Craig L Jensen, Ricardo A Arbizu, Marla B K Sammer, Richard Kellermayer
Faculty, Staff and Students Publications
Objectives: Dolichocolon (DC), classified under International Classification of Diseases, Tenth Revision (ICD-10) code Q43.8 ("Other specified congenital malformations of intestine"), refers to an elongated or redundant large intestine. Recent studies in adults indicate a role for dolichocolon in constipation and disorders of gut-brain interaction. Contrast enema (CE) imaging is commonly used to identify DC, typically defined as a sigmoid colon extending above, or a transverse colon descending below, the iliac crest line. Despite its potential relevance, the prevalence and clinical significance of DC in pediatric gastroenterology remain poorly understood.
Methods: This retrospective study assessed the prevalence of DC in pediatric …
Diagnostic Evaluation And Treatment Of Utis In Children With Neurogenic Bladder, Jacqueline G Holden, Sowdhamini Wallace, Pearl W Chang, Stephanie Davis-Rodriguez, Rana F Hamdy, John M Morrison, Michael J Tchou, Victor Trevisanut, Vijaya Vemulakonda, Catherine S Forster
Diagnostic Evaluation And Treatment Of Utis In Children With Neurogenic Bladder, Jacqueline G Holden, Sowdhamini Wallace, Pearl W Chang, Stephanie Davis-Rodriguez, Rana F Hamdy, John M Morrison, Michael J Tchou, Victor Trevisanut, Vijaya Vemulakonda, Catherine S Forster
Faculty, Staff and Students Publications
Objective: Children with neurogenic bladder (NGB) are at increased risk for urinary tract infections (UTIs), but there is a lack of guidelines to assist clinicians in diagnosing and treating these children. Our objective was to describe the presentation and treatment of provider diagnosed UTIs in children with NGB compared to children with vesicoureteral reflux (VUR) and to assess the proportion of children with NGB who met a consortium definition of UTI.
Study design: We included children < 18 years old with either VUR or NGB who were diagnosed in the emergency department with a febrile UTI in our multicenter retrospective cohort study. We extracted and compared UTI symptoms and urinalysis results specific to children with NGB to children with VUR. We measured the proportion of UTI diagnoses concordant with the Urologic Management to Preserve Initial Renal Function (UMPIRE) consensus definition of UTI, defined as ≥ 100,000 CFU/mL of 1 or 2 organisms, pyuria, and ≥ two symptoms of UTI.
Results: The most common symptom among all children in the cohort was vomiting (38.8 %). Of the 215 children with NGB, 41.3 % met …
Maternal Myo-Inositol Intake And Congenital Heart Defects In Offspring: A Population-Based Case-Control Study, Ruiqi Cen, L Joseph Su, Jun Ying, Mohammed S Orloff, Elijah H Bolin, Xiangyang Lou, Lynn M Almli, Lorenzo D Botto, Marilyn L Browne, Richard H Finnell, Mary M Jenkins, Eirini Nestoridi, Andrew F Olshan, Paul A Romitti, Gary M Shaw, Wendy N Nembhard
Maternal Myo-Inositol Intake And Congenital Heart Defects In Offspring: A Population-Based Case-Control Study, Ruiqi Cen, L Joseph Su, Jun Ying, Mohammed S Orloff, Elijah H Bolin, Xiangyang Lou, Lynn M Almli, Lorenzo D Botto, Marilyn L Browne, Richard H Finnell, Mary M Jenkins, Eirini Nestoridi, Andrew F Olshan, Paul A Romitti, Gary M Shaw, Wendy N Nembhard
Faculty, Staff and Students Publications
Objective: To investigate associations between maternal periconceptional (three months prior through the third pregnancy month) myo-inositol intake and the odds of selected congenital heart defects in offspring.
Design: A population-based case-control study using the National Birth Defects Prevention Study (NBDPS) database.
Setting: United States.
Population or sample: Women with singleton live births without major birth defects (controls) and women with singleton live births, stillbirths, or terminations with selected nonsyndromic congenital heart defects (CHD; cases).
Methods: Descriptive analyses, logistic regression models, ascertainment of myo-inositol intake from supplements and food using a shortened food frequency questionnaire and survey.
Main outcome measures: Odds …
Enteral And Intravenous Supplementation Of Arginine And Citrulline Fail To Prevent Necrotizing Enterocolitis In Preterm Neonatal Pigs, Caitlin Vonderohe, Julia Garcia Mancebo, Valeria Melendez Hebib, Barbara Stoll, Inka Didelija, Sarah Elefson, Mahmoud Mohammad, Brooklynn Earls, Greg Guthrie, Doug Burrin
Enteral And Intravenous Supplementation Of Arginine And Citrulline Fail To Prevent Necrotizing Enterocolitis In Preterm Neonatal Pigs, Caitlin Vonderohe, Julia Garcia Mancebo, Valeria Melendez Hebib, Barbara Stoll, Inka Didelija, Sarah Elefson, Mahmoud Mohammad, Brooklynn Earls, Greg Guthrie, Doug Burrin
Children’s Nutrition Research Center Staff Publications
Background: Necrotizing enterocolitis (NEC) is the most common gastrointestinal emergency in preterm infants with a morality rate that approaches 50%. Arginine has been widely studied in the field of clinical nutrition as a supplement for patients experiencing critical illness because it can be metabolized into nitric oxide, an important agent for supporting immunity and microcirculation. Citrulline has received less attention but can be metabolized into arginine and has a much longer plasma half-life than arginine. We used the highly translational preterm pig model to determine the effect of intravenous and enteral supplementation of arginine and citrulline on NEC incidence in …
The Pandemic Effect: Secondary Impact On The Diagnosis Of Clinically Significant Congenital Heart Disease And Role Of Deprivation Index, Cassandra Campbell, Kristin Wyckoff, Ronak Naik, Nithya Swaminathan, Salima Ahmed Bhimani, Jason Johnson, Vijaya Joshi, Ranjit Philip
The Pandemic Effect: Secondary Impact On The Diagnosis Of Clinically Significant Congenital Heart Disease And Role Of Deprivation Index, Cassandra Campbell, Kristin Wyckoff, Ronak Naik, Nithya Swaminathan, Salima Ahmed Bhimani, Jason Johnson, Vijaya Joshi, Ranjit Philip
Faculty, Staff and Student Publications
We sought to determine the impact of the COVID-19 on prenatal diagnosis (PND) of clinically significant congenital heart disease (CHD) and the role of socioeconomic status (SES), complexity of diagnosis, and proximity to advance testing. This single-center retrospective study evaluated 2 eras of infants (COVID (born July 1, 2020–July 31, 2023) and pre-COVID (born June 1, 2017–July 1, 2020) who had cardiac surgery in the first year of life. 512 infants, 292 in pre-COVID era and 220 in COVID era with no significant difference in the rate of prenatal care (PNC) or PND in the COVID era (88%/42%) versus pre-COVID …
Designing Inclusive Newborn Sequencing Research: Insights From Parents In Underrepresented Communities, Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, Crystal T Stephens, Bethany Zettler, Greysha Rivera-Cruz, Priyal Agrawal, Amy Brower, Stephanie Chigbu, Kurt D Christensen, Casie A Genetti, Richetta Givens, Nina B Gold, Inez V Reeves, Isabella Schichter, Habib Shariat, Sandra Simon, Hadley Stevens Smith, Melissa Uveges, Robert C Green, Ingrid A Holm, Stacey Pereira
Designing Inclusive Newborn Sequencing Research: Insights From Parents In Underrepresented Communities, Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, Crystal T Stephens, Bethany Zettler, Greysha Rivera-Cruz, Priyal Agrawal, Amy Brower, Stephanie Chigbu, Kurt D Christensen, Casie A Genetti, Richetta Givens, Nina B Gold, Inez V Reeves, Isabella Schichter, Habib Shariat, Sandra Simon, Hadley Stevens Smith, Melissa Uveges, Robert C Green, Ingrid A Holm, Stacey Pereira
Center for Medical Ethics and Health Policy Staff Publications
Background: It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand their perspectives on GS research, develop strategies to reduce barriers to enrollment, and facilitate research participation.
Methods: Semi-structured interviews with 50 parents from URG.
Results: Nearly all parents said they would be interested in participating in an infant GS study. Parents were interested in participating in GS research for reasons including clinical utility, personal utility, and/or family health benefits. Deterrents …
Women With Moderate Anaemia Prior To Conception Benefited Most From Nutrition Interventions: A Secondary Analysis Of The Women First Preconception Maternal Nutrition Trial, Sumera Aziz Ali, Ka Kahe, Jeanine Genkinger, Linda Valeri, Sarah Saleem, Saleem Jessani, Robert Goldenberg, Jamie Westcott, Jennifer Kemp, Ana Garces, Lester Figueroa, Shivaprasad Goudar, Sangappa Dhaded, Richard Derman, Antoinette Tshefu Kitoto, Adrien Lokangaka, Melissa Bauserman, Elizabeth Mcclure, Marion Koso-Thomas, Louise Kuhn, Nancy Krebs
Women With Moderate Anaemia Prior To Conception Benefited Most From Nutrition Interventions: A Secondary Analysis Of The Women First Preconception Maternal Nutrition Trial, Sumera Aziz Ali, Ka Kahe, Jeanine Genkinger, Linda Valeri, Sarah Saleem, Saleem Jessani, Robert Goldenberg, Jamie Westcott, Jennifer Kemp, Ana Garces, Lester Figueroa, Shivaprasad Goudar, Sangappa Dhaded, Richard Derman, Antoinette Tshefu Kitoto, Adrien Lokangaka, Melissa Bauserman, Elizabeth Mcclure, Marion Koso-Thomas, Louise Kuhn, Nancy Krebs
Global Health Articles
INTRODUCTION: The Women First (WF) Preconception Maternal Nutrition trial found greater benefits of small-quantity lipid-based nutrient supplements (SQ-LNS) for intrauterine growth among anaemic versus non-anaemic women at preconception. We investigated whether the benefits of SQ-LNS in improving markers of intrauterine growth occurred evenly across the mild to moderate spectrum of pre-pregnancy anaemia.
METHODS: We analysed WF data (n=2443 maternal-newborn dyads) from Pakistan, India, Guatemala and the Democratic Republic of Congo. Women received SQ-LNS either ≥3 months preconception through pregnancy (Arm 1); starting in the late first trimester (Arm 2); or not at all (Arm 3: control), with all supplementations discontinued …
De Novo Variants In The Splicing Factor Gene Sf3b1 Are Associated With Neurodevelopmental Disorders, Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D Fenger, Melissa Macpherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H Zackai, Ian A Glass, Scott Ward, Philippe M Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G Calame, James R Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G Bernard
De Novo Variants In The Splicing Factor Gene Sf3b1 Are Associated With Neurodevelopmental Disorders, Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D Fenger, Melissa Macpherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H Zackai, Ian A Glass, Scott Ward, Philippe M Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G Calame, James R Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G Bernard
Faculty, Staff and Students Publications
SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo. Patients present with a global developmental delay, associated with variable neurological and facial dysmorphic traits. A dichotomy may emerge between patients harbouring predicted loss of function (n = 9) and missense variants (n = 17), the latter being associated with …
Improved Surgical Management Of Complex Neonates With Heterotaxy Syndrome, Alexander C Mills, Ashley E Dawson, Michael C Scott, Alexis M Kennedy, Beau A Bequeaith, Ioannis Zoupas, Jorge D Salazar, Damien J Lapar
Improved Surgical Management Of Complex Neonates With Heterotaxy Syndrome, Alexander C Mills, Ashley E Dawson, Michael C Scott, Alexis M Kennedy, Beau A Bequeaith, Ioannis Zoupas, Jorge D Salazar, Damien J Lapar
Faculty, Staff and Student Publications
Background: Neonatal management of congenital heart defects (CHD) among heterotaxy patients remains challenging due to significant heterogeneity in cardiac and visceral phenotypes. This study evaluated contemporary surgical outcomes and identified high-risk anatomic substrates.
Methods: A total of 41 heterotaxy CHD patients who underwent neonatal surgical repair and/or palliation over a 10-year period were evaluated at a single institution. Heterotaxy anatomy was characterized according to right atrial isomerism (RAI) or left atrial isomerism (LAI), and other cardiac defects. Multivariate Cox regression and Kaplan-Meier analyses evaluated operative and intermediate-term outcomes.
Results: Median age at initial operation was 7.0 days, and median operative …
Feeding Mode Is Associated With Infant Night Sleep Trajectories During The First Postnatal Year, Magdalena Olson, Li Liu, Elizabeth Reifsnider, Dean V. Coonrod, Sarada S. Panchanathan, Megan E. Petrov, Corrie M. Whisner
Feeding Mode Is Associated With Infant Night Sleep Trajectories During The First Postnatal Year, Magdalena Olson, Li Liu, Elizabeth Reifsnider, Dean V. Coonrod, Sarada S. Panchanathan, Megan E. Petrov, Corrie M. Whisner
Ellmer School of Nursing Faculty Publications
Background: Short sleep and formula feeding during infancy are associated with increased risk of childhood obesity. Feeding practices and sleep arrangements vary during infancy and may also be dynamic, yet their impact on infant night sleep duration remains unclear. Understanding these relationships is crucial for formulating recommendations to support breastfeeding and address sleep concerns. Objective: We examined the association between feeding mode and parent-reported infant night sleep duration during the first postnatal year, while additionally evaluating night-weaning and bedsharing as contextual sleep-related practices. Methods: Infants in the Phoenix Metropolitan Area (n = 193) were followed up at 3, 8, 13, …
Contemporary Trends In Pediatric Extubation Failure And Noninvasive Respiratory Support Use, Jeremy M Loberger, Mitchell Moore, Matthew Scanlon, Robinder G Khemani, Samer Abu-Sultaneh, Colin M Rogerson
Contemporary Trends In Pediatric Extubation Failure And Noninvasive Respiratory Support Use, Jeremy M Loberger, Mitchell Moore, Matthew Scanlon, Robinder G Khemani, Samer Abu-Sultaneh, Colin M Rogerson
Faculty, Staff and Student Publications
Background: Prolonged invasive mechanical ventilation (IMV) is associated with morbidity and mortality in children. Timely extubation is essential and must balance the competing risks of extubation failure (EF) and prolonged use of noninvasive respiratory support after extubation.
Research question: Did EF risk factors, EF rates, noninvasive respiratory support after extubation practices, and patient-centered outcomes changed between 2013 and 2022?
Study design and methods: Retrospective cross-sectional study of patients younger than 19 years receiving IMV for ≥ 24 hours and extubated between 2013 and 2022 from 158 North American sites in the Virtual Pediatric Intensive Care, LLC, quality improvement database.
Results: …
Health Insurance As A Mediator Of Neighborhood Deprivation And Pediatric Cancer Survival: An Analysis Of State Cancer Registry Data, Emma Hymel, Cheng Zheng, Jenna Allison, Kendra L. Ratnapradipa, Edward S. Peters, Sarah H. Nash, Mei-Chin Hsieh, Shinobu Watanabe-Galloway
Health Insurance As A Mediator Of Neighborhood Deprivation And Pediatric Cancer Survival: An Analysis Of State Cancer Registry Data, Emma Hymel, Cheng Zheng, Jenna Allison, Kendra L. Ratnapradipa, Edward S. Peters, Sarah H. Nash, Mei-Chin Hsieh, Shinobu Watanabe-Galloway
Journal Articles: Epidemiology
INTRODUCTION: To develop interventions to reduce neighborhood-level disparities in pediatric cancer outcomes, it is necessary to understand their underlying mechanisms. It has been suggested that individual-level health insurance is a mediator of neighborhood deprivation and pediatric cancer survival.
METHODS: This study was a population-based longitudinal study of children with cancer from 2000 to 2020 in the Iowa Cancer Registry and Louisiana Tumor Registry. Neighborhood deprivation was measured using the Area Deprivation Index. Log-binomial regression models were used to identify predictors of health insurance status at diagnosis. Cox regression models were used to assess the association between health insurance status at …
Infant Sensory Gating And A Developmental Cascade To Autistic Traits And Anxiety, Rebecca F Schwarzlose
Infant Sensory Gating And A Developmental Cascade To Autistic Traits And Anxiety, Rebecca F Schwarzlose
2020-Current year OA Pubs
Disruptions to the infant sensory environment can have lasting effects on neural response properties and behavior in both humans and animals. Recent work has begun to highlight an additional factor in infant sensory experience: differences in inhibitory signaling and sensory gating. Converging work from human and animal studies has begun to implicate a developmental cascade by which impaired sensory gating during a sensitive period of neonatal neurodevelopment promotes a phenotype of sensory over-responsivity, autistic traits, anxiety, and other psychiatric challenges. In this Review, I propose a model for this developmental cascade and highlight how differences in infant sensory responsivity represent …
First Steps: Supporting Infant Development And Family Bonding, Katana M. Evans
First Steps: Supporting Infant Development And Family Bonding, Katana M. Evans
Entry Level Occupational Therapy Doctoral Capstone Projects Class of 2026
First Steps: Supporting Infant Development and Family Bonding is a capstone project that was developed to bring awareness to the importance of development within the first few months of life, as well as exploring occupational therapy’s role with this population. The project focused on areas of program development, education, and clinical skill development, which were all developed following the completion of a scoping review. Educational materials, including a video library, were created for families to continue to access materials following the completion of the experience. These videos covered topics including safe sleep, milestones, tummy time, and more. Additionally, two sessions …
An Analysis Of Pediatric Retinoblastoma Medical Malpractice Litigation, Victoria Miller, Alyssa D. Reese, Katherine Foote, Alejandro Navarro, Andrew Galfano, Christian Hietanen
An Analysis Of Pediatric Retinoblastoma Medical Malpractice Litigation, Victoria Miller, Alyssa D. Reese, Katherine Foote, Alejandro Navarro, Andrew Galfano, Christian Hietanen
Department Surgery Faculty Publications
BACKGROUND: Retinoblastoma is a cancer of the retina that is most commonly diagnosed in the pediatric population. Unfortunately, this cancer can spread, leading to poor outcomes such as enucleation. The purpose of this study was to determine the characteristics of medical malpractice litigation associated with a diagnosis of retinoblastoma in the pediatric population.
METHODS: A search for all available cases associated with "retinoblastoma" in the Westlaw Campus Research Legal Database was conducted. This spanned from database inception to August 2023. Cases were included if there was a complaint of medical malpractice related to retinoblastoma present in a pediatric patient. Demographic …
Identification Of Distinct Subtypes In Immune Tolerance After Hematopoietic Cell Transplantation Using The Prospective Able1.0 Pediatric Study Cohort, Bernard Ng, Shalini Shenoy, Et Al.
Identification Of Distinct Subtypes In Immune Tolerance After Hematopoietic Cell Transplantation Using The Prospective Able1.0 Pediatric Study Cohort, Bernard Ng, Shalini Shenoy, Et Al.
2020-Current year OA Pubs
The lack of immune tolerance after hematopoietic cell transplantation (HCT) can result in chronic graft-versus-host disease (cGvHD), which is the primary nonrelapse limitation of successful HCT. To date, immune tolerance has been considered a single biological entity, but we hypothesized that post-HCT immune tolerance could develop through multiple pathways. Using the ABLE network database, which comprises measurements of 75 cell populations, 10 cytokines and chemokines, lymphocyte population telomere length, KRECs and TRECs, and 132 metabolites from the largest pediatric cGvHD cohort (n = 241), we applied clustering analysis to patients with primary immune tolerance (PIT; no acute GvHD [aGvHD] or …
Cesarean Section Rates In Lucas Do Rio Verde, Brazil: Assessing The Impact Of Socioeconomic Status And Maternal And Neonatal Outcomes, Ramya Vemulapalli, Roni Arienti, Linder Wendt, Jay Brooks Jackson, Mary B Rysavy, Kimberly A Kenne
Cesarean Section Rates In Lucas Do Rio Verde, Brazil: Assessing The Impact Of Socioeconomic Status And Maternal And Neonatal Outcomes, Ramya Vemulapalli, Roni Arienti, Linder Wendt, Jay Brooks Jackson, Mary B Rysavy, Kimberly A Kenne
Faculty, Staff and Student Publications
Background
Brazil is globally known for its high rate of cesarean section despite endorsing the WHO’s current recommendation of 15%.
Objectives
Determine if socioeconomic status correlated with the rate of cesarean section (CS) at a mixed private and public hospital in the west-central region of Brazil. Describe the maternal and neonatal outcomes by mode of delivery (MOD) in the same population.
Design
Cohort study
Methods
Data from all delivering patients at São Lucas Hospital were collected during an 18-month period and analyzed. Demographics, baseline maternal health status, pregnancy and delivery information, maternal outcomes, and neonatal outcomes were entered into a …
Healthcare Utilization Following Implementation Of A Pediatric Social Needs Screening Program, Ashley Gibson, Kaleigh Riggs-Harpur, Midhat Jafry, Mallika Mathur, Yen-Chi Le, Sandra Mckay
Healthcare Utilization Following Implementation Of A Pediatric Social Needs Screening Program, Ashley Gibson, Kaleigh Riggs-Harpur, Midhat Jafry, Mallika Mathur, Yen-Chi Le, Sandra Mckay
Faculty, Staff and Student Publications
Objective: This study evaluated differences in healthcare utilization among a pediatric primary care population following implementation of a universal social needs screening and referral program. It was hypothesized that emergency, sick, and hospitalization visits would decrease post-implementation, with stable or increased preventive care.
Methods: A retrospective, observational study was conducted using electronic health record data from 2 cohorts at different time periods at a large academic pediatric primary care clinic. The pre-implementation group included patients with a well-child visit from 08/2021 to 07/2022; the post-implementation group included patients from 09/2022 to 08/2023. Healthcare utilization measures of emergency department visits, hospitalizations, …
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Faculty, Staff and Students Publications
Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …
Non-Congenital Hsv-1 Keratitis In An Immunocompetent 9-Month-Old Infant, Caleb A Casanova, Stephanie Trejo Corona, Stephen F Pflugfelder
Non-Congenital Hsv-1 Keratitis In An Immunocompetent 9-Month-Old Infant, Caleb A Casanova, Stephanie Trejo Corona, Stephen F Pflugfelder
Faculty, Staff and Students Publications
Isolated, non-congenital herpes simplex virus type 1 (HSV-1) keratitis in immunocompetent infants is exceedingly rare and may be easily misdiagnosed, leading to delays in appropriate antiviral therapy. This case is unique in that it describes HSV-1 keratitis in a healthy 9-month-old infant presenting without systemic illness, initially treated as bacterial conjunctivitis. The patient presented with unilateral eye pain, redness, and corneal opacification. Subsequent evaluation revealed HSV-1 keratitis, and the patient was treated with intravenous acyclovir in combination with topical moxifloxacin and topical ganciclovir, resulting in complete resolution of symptoms within one week. This case adds to the limited literature on …
Amino Acids And Lean Mass Accretion In Preterm Neonates, Antonio C Ramos Dos Santos, Marta L Fiorotto, Teresa A Davis
Amino Acids And Lean Mass Accretion In Preterm Neonates, Antonio C Ramos Dos Santos, Marta L Fiorotto, Teresa A Davis
Faculty, Staff and Students Publications
Purpose of review: This review evaluates recent evidence on how total protein and energy intake, amino acid composition, and nutrient delivery modality influence protein synthesis in preterm neonates, with the goal of informing nutritional strategies to support optimal lean mass accretion and growth.
Recent findings: Preterm neonates exhibit anabolic resistance to feeding due to impaired insulin and amino acid signaling in skeletal muscle. Enteral nutrition, especially fortified human milk, supports better lean mass accretion and neurodevelopment than parenteral nutrition. Intermittent bolus feeding and pulsatile leucine supplementation during continuous feeding further enhance mTORC1-dependent translation initiation signaling and protein synthesis efficiency in …
Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini
Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini
Faculty, Staff and Students Publications
Background: Utility of preoperative rotational thromboelastometry (ROTEM) over standard coagulation assays (SCAs) in predicting intraoperative bleeding during orthotopic liver transplantation (OLT) in children with liver failure (LF) remains unclear.
Methods: In this single-center retrospective cohort of pediatric OLT recipients, we compared the predictive values of preoperative ROTEM parameters (intrinsic pathway (INTEM) maximum clot firmness (MCF), extrinsic pathway (EXTEM) clotting time (CT), INTEM CT, and fibrinogen-based (FIBTEM) MCF) and the corresponding SCAs (platelet count, international normalized ratio (INR), activated partial thromboplastin time (aPTT), and fibrinogen level, respectively) for significant intraoperative bleeding (blood loss of > 22 mL/kg; i.e., ≥ 85th percentile for …