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Articles 391 - 420 of 1737
Full-Text Articles in Medicine and Health Sciences
New Anhydramnios After 22 Weeks And Pulmonary Hypoplasia, Aaron W Roberts, Margaret Clement, Suzanne Marie Lopez, Rita Swinford, Percy Pacora Portella, Edgar Hernandez-Andrade, Matthew Rysavy, Anthony Johnson
New Anhydramnios After 22 Weeks And Pulmonary Hypoplasia, Aaron W Roberts, Margaret Clement, Suzanne Marie Lopez, Rita Swinford, Percy Pacora Portella, Edgar Hernandez-Andrade, Matthew Rysavy, Anthony Johnson
Faculty, Staff and Student Publications
Introduction: Anhydramnios due to renal failure prior to 22 weeks of gestational age (WGA) is associated with lethal pulmonary hypoplasia but after 22 WGA outcomes are less clear. We evaluated whether these fetuses, with new anhydramnios after 22 WGA, incur significant risk of severe neonatal pulmonary morbidity.
Methods: This retrospective study of singleton pregnancies diagnosed with new-onset renal anhydramnios after 22 WGA following verifiable normal AFI on ultrasound before 22 WGA from 2021 to 2023. Cases with bilateral renal agenesis, premature rupture of membranes, and nonrenal malformations were excluded.
Results: During the study period 53,698 s trimester ultrasound examinations were …
Effect Of Palatoplasty Technique On Otologic Outcomes In Children With Cleft Palate, Shaina W Gong, Paul Hung, Chioma G Obinero, Jose Barrera, Zi Yang Jiang, Matthew R Greives, Zhen Huang
Effect Of Palatoplasty Technique On Otologic Outcomes In Children With Cleft Palate, Shaina W Gong, Paul Hung, Chioma G Obinero, Jose Barrera, Zi Yang Jiang, Matthew R Greives, Zhen Huang
Faculty, Staff and Student Publications
Background: In patients with cleft palate (CP), the impact of primary palatoplasty technique on otologic outcomes remains a major point of contention. While some studies report improved outcomes after certain techniques of palatal repair, there is a lack of consensus on the most effective procedure.
Objective: We sought to characterize the effects of primary palatoplasty technique on otologic outcomes in children with CP.
Methods: A single institution retrospective review of patients with CP who underwent primary palatoplasty (straight-line repair or Furlow Z-plasty) was performed. Primary outcomes of interest included time to placement of T-tubes, number of tympanostomy tube placements, tympanic …
Invasive Fungal Disease In Solid Organ And Hematopoietic Cell Transplant Recipients, United States, Jeremy A W Gold, Kaitlin Benedict, Elizabeth Sajewski, Tom Chiller, Meghan Lyman, Mitsuru Toda, Jessica S Little, Luis Ostrosky-Zeichner
Invasive Fungal Disease In Solid Organ And Hematopoietic Cell Transplant Recipients, United States, Jeremy A W Gold, Kaitlin Benedict, Elizabeth Sajewski, Tom Chiller, Meghan Lyman, Mitsuru Toda, Jessica S Little, Luis Ostrosky-Zeichner
Faculty, Staff and Student Publications
Background: Updated benchmark data on invasive fungal disease (IFD) in solid organ transplantation (SOT) and hematopoietic cell transplantation (HCT) recipients are necessary to increase clinical recognition and inform treatment and prevention strategies. We estimated IFD incidence and potential risk factors in transplant recipients in a large US commercial health insurance database.
Methods: We observed patients who received SOT or HCT during 2018-2022 until IFD development, disenrollment, or database end date (July 31, 2023). We calculated incidence (per 1000 person-years) and time to IFD development, comparing demographic features and underlying conditions for IFD versus non-IFD patients.
Results: Overall, 9143 patients received …
Implementing A Remote Patient Monitoring Program To Improve Nutrition Status In Infant With Cystic Fibrosis, Jessica Jones, Stacie Hunter, Kelli Williams, Petrissa Ncomo, Rapheal Peeples, Alex Pottorff, Lauren Lazar, Meghana Sathe
Implementing A Remote Patient Monitoring Program To Improve Nutrition Status In Infant With Cystic Fibrosis, Jessica Jones, Stacie Hunter, Kelli Williams, Petrissa Ncomo, Rapheal Peeples, Alex Pottorff, Lauren Lazar, Meghana Sathe
2025
No abstract provided.
'I Did Not Know We Could Exercise This Small Premature Baby': Challenges Experienced By Parents While Implementing Early Intervention For Their Preterm Infants-A Qualitative Perspective, Manasa Kolibylu Raghupathy, Selim Jahangir, Sonia Khurana, Leslie Edward S. Lewis, Bhamini Krishna Rao
'I Did Not Know We Could Exercise This Small Premature Baby': Challenges Experienced By Parents While Implementing Early Intervention For Their Preterm Infants-A Qualitative Perspective, Manasa Kolibylu Raghupathy, Selim Jahangir, Sonia Khurana, Leslie Edward S. Lewis, Bhamini Krishna Rao
Rehabilitation Sciences Faculty Publications
Background
Preterm birth is a highly stressful experience for both parents and infants. Parental participation in care enhances developmental outcomes, fosters parent-infant interactions and builds parental confidence. However, low parental adherence has always been a challenge in the successful implementation of intervention programs both in the NICU and at home. It is imperative to understand parents' perspectives and view the challenges that they experience through their lens while providing early intervention to their infants born preterm. This study is aimed at identifying new parents' challenges when implementing early intervention programs for their infants during the transition from hospital to home. …
Rcpneoperu Trial: A Cluster Randomized Pilot Trial To Assess Traditional Neonatal Resuscitation Compared To Partially Virtual Training In Remote Areas., Carlos A Delgado, Enrique Gómez Pomar, Pablo Velásquez, Víctor Sánchez, Roberto Shimabuku, Luis Huicho
Rcpneoperu Trial: A Cluster Randomized Pilot Trial To Assess Traditional Neonatal Resuscitation Compared To Partially Virtual Training In Remote Areas., Carlos A Delgado, Enrique Gómez Pomar, Pablo Velásquez, Víctor Sánchez, Roberto Shimabuku, Luis Huicho
Pediatrics Faculty Publications
OBJECTIVE: To assess the effects of a neonatal resuscitation training program using traditional training and partial distance learning.
METHOD: Through an open cluster-randomized trial, the authors compared a traditional approach involving face-to-face theory and practice sessions using information and communication technology to offer theory and distance examination, followed by face-to-face practice. Twelve health facilities were allocated by blocked randomization. Comparisons were made adjusting for clustering in qualitative and quantitative data. The primary outcome was the percentage of infants with heart rates ≥100 per minute at the second minute after birth. The authors performed a cluster-level analysis for cluster randomized trials, …
Postnatal Growth Assessment Of The Very-Low-Birth-Weight Preterm Infant, Kera Mcnelis, Melissa Thoene, Katie A. Huff, Ting Ting Fu, Zaineh Alja'nini, Sreekanth Viswanathan
Postnatal Growth Assessment Of The Very-Low-Birth-Weight Preterm Infant, Kera Mcnelis, Melissa Thoene, Katie A. Huff, Ting Ting Fu, Zaineh Alja'nini, Sreekanth Viswanathan
Journal Articles: Pediatrics
Preterm birth represents a nutritional emergency and a sudden dissociation of the maternal-placental-fetal unit that regulates metabolic and endocrine physiology. Growth demonstrates health and is a signal of physiological well-being. Growth is expensive for a critically ill infant and possible only after other homeostasis energy demands are met. Despite an expert-stated goal that preterm infants should grow at a similar rate to their gestational age-matched fetal counterparts, this is not the reality for many preterm infants. Other investigators have proposed new metrics for growth quality in the neonatal intensive care unit. This review discusses growth assessment and standards in very-low-birth-weight …
Nutritional Management Of The Child With Chronic Kidney Disease And On Dialysis., Vanessa Shaw, Caroline Anderson, An Desloovere, Larry A. Greenbaum, Lyndsay Harshman, Christina L. Nelms, Pearl Pugh, Nonnie Polderman, José Renken-Terhaerdt, Evelien Snauwaert, Stella Stabouli, Jetta Tuokkola, Johan Vande Walle, Bradley A. Warady, Fabio Paglialonga, Rukshana Shroff
Nutritional Management Of The Child With Chronic Kidney Disease And On Dialysis., Vanessa Shaw, Caroline Anderson, An Desloovere, Larry A. Greenbaum, Lyndsay Harshman, Christina L. Nelms, Pearl Pugh, Nonnie Polderman, José Renken-Terhaerdt, Evelien Snauwaert, Stella Stabouli, Jetta Tuokkola, Johan Vande Walle, Bradley A. Warady, Fabio Paglialonga, Rukshana Shroff
Manuscripts, Articles, Book Chapters and Other Papers
While it is widely accepted that the nutritional management of the infant with chronic kidney disease (CKD) is paramount to achieve normal growth and development, nutritional management is also of importance beyond 1 year of age, particularly in toddlers, to support the delayed infantile stage of growth that may extend to 2-3 years of age. Puberty is also a vulnerable period when nutritional needs are higher to support the expected growth spurt. Inadequate nutritional intake throughout childhood can result in failure to achieve full adult height potential, and there is an increased risk for abnormal neurodevelopment. Conversely, the rising prevalence …
Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Sarah Kemme, Jennifer D Canniff, Krystle M Garth, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman
Detection Of Viral Rna And Dna And Immune Response Following Administration Of Live Attenuated Measles And Varicella Vaccines In Children With Chronic Liver Disease, Sarah Kemme, Jennifer D Canniff, Krystle M Garth, Shaobing Li, Krupa Mysore, Adriana Weinberg, Amy G Feldman
Faculty, Staff and Students Publications
Infections preventable by live virus vaccines are surging in the setting of decreased herd immunity. Many children with chronic liver diseases (CLDs) are unimmunized and at increased risk for infection due to guidelines recommending against live vaccines within 4 weeks pretransplant. This prospective study of 21 children with CLD and 13 healthy controls defined the timing of measles virus and varicella-zoster virus (VZV) RNA- and DNA-emia following vaccination and compared immune responses to measles and varicella vaccines in both groups. Measles virus RNA and VZV DNA real-time PCR were measured weekly following vaccination; measles virus RNA was undetectable in all …
Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott
Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott
Faculty, Staff and Students Publications
Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic. However, a research reanalysis of their exome sequencing data revealed that both were homozygous for an intronic c.749+39G>A [NM_001383.6] variant in DPH1. RNAseq analysis performed on RNA from fibroblasts revealed significantly reduced expression of DPH1 transcripts suggestive of abnormal splicing followed by nonsense mediated mRNA decay. Since the …
Deletions In The Cdkl5 5′ Untranslated Region Lead To Cdkl5 Deficiency Disorder, Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier, Annemarie M Denny, Jenna Lucash, Bo Zhang, Holly A Dubbs, Eric D Marsh, Judith L Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K Percy, John M Schreiber, Scott Demarest, Timothy A Benke, Maya Chopra, Timothy W Yu, Heather E Olson
Deletions In The Cdkl5 5′ Untranslated Region Lead To Cdkl5 Deficiency Disorder, Isabel Haviland, Ralph D Hector, Lindsay C Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier, Annemarie M Denny, Jenna Lucash, Bo Zhang, Holly A Dubbs, Eric D Marsh, Judith L Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K Percy, John M Schreiber, Scott Demarest, Timothy A Benke, Maya Chopra, Timothy W Yu, Heather E Olson
Faculty, Staff and Students Publications
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first exons (exons 1a-e), are uncommonly reported. We describe genetic and phenotypic characteristics for 15 individuals with CDKL5 partial gene deletions affecting the 5' UTR. All individuals presented characteristic features of CDD, including medically refractory infantile-onset epilepsy, global developmental delay, and visual impairment. We performed RNA sequencing on fibroblast samples from three individuals with small deletions involving exons 1 …
Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott
Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott
Faculty, Staff and Students Publications
Mediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II-mediated preinitiation complex. MED12-related disorders display unique gender-specific genotype-phenotype associations and include X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants, and X-linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively. MED12 was previously identified as a low-penetrance candidate gene for non-isolated congenital diaphragmatic hernia (CDH+). At the time, however, there was …
The Association Of Human Milk Intake And Outcomes In Biliary Atresia, Mary Elizabeth M Tessier, Jeremy M Schraw, Stacey Beer, Sanjiv Harpavat, M Kyle Jensen, John C Magee, Vicky Ng, Michael E Scheurer, Sarah A Taylor, Benjamin L Shneider
The Association Of Human Milk Intake And Outcomes In Biliary Atresia, Mary Elizabeth M Tessier, Jeremy M Schraw, Stacey Beer, Sanjiv Harpavat, M Kyle Jensen, John C Magee, Vicky Ng, Michael E Scheurer, Sarah A Taylor, Benjamin L Shneider
Faculty, Staff and Students Publications
Objectives: Human milk intake has many benefits which could influence outcomes in biliary atresia (BA). However, the role of human milk in BA has not been examined. We hypothesized that human milk intake would be associated with improved outcomes in BA.
Methods: We assessed the impact of any human milk (AHM) as compared to formula only (FO) intake before Kasai portoenterostomy (KP) on outcomes in 447 infants with BA using the PROBE database (NCT00061828) post hoc. The primary outcome was clearance of jaundice (COJ = total bilirubin (TB) < 2 mg/dL by 3 months post-KP). Secondary outcomes included 2-year survival with native liver (SNL), bilirubin levels, cholangitis, ascites, and growth. We assessed the fecal microbiome (n = 8) comparing AHM versus FO.
Results: At baseline, 211 infants received AHM and 215 received …
Delayed Excretion Of High-Dose Methotrexate In Pediatric Acute Leukemia Correlates With Laxative And Constipation Management, Jennifer A Belsky, Ashley Chavana, Ankona Banerjee, Mark Zobeck, Eric S Schafer, Karen R Rabin, Monica Gramatges, Alex Sim, Audrey Leisinger, Trisha Reddy, Megan J Parod, Philip Lupo, Michael Scheurer, Austin L Brown, M Brooke Bernhardt
Delayed Excretion Of High-Dose Methotrexate In Pediatric Acute Leukemia Correlates With Laxative And Constipation Management, Jennifer A Belsky, Ashley Chavana, Ankona Banerjee, Mark Zobeck, Eric S Schafer, Karen R Rabin, Monica Gramatges, Alex Sim, Audrey Leisinger, Trisha Reddy, Megan J Parod, Philip Lupo, Michael Scheurer, Austin L Brown, M Brooke Bernhardt
Faculty, Staff and Students Publications
Background: Delayed excretion of high-dose methotrexate (HD-MTX) in pediatric acute lymphoblastic leukemia (ALL) can result in significant morbidity. While methotrexate is primarily renally excreted, HD-MTX may overwhelm renal excretion and increase reliance on fecal elimination. This study evaluated the association between laxative use for constipation and delayed excretion of HD-MTX.
Methods: This multisite chart review included pediatric patients with ALL (2010-2020) who received HD-MTX (5 g/m2). Delayed excretion was defined as a serum MTX concentration greater than 0.4 µM at Hour 48. We identified use of laxative medications after each HD-MTX infusion, with receipt of two or more doses considered …
Igf-1 Impacts Neocortical Interneuron Connectivity In Epileptic Spasm Generation And Resolution, Carlos J Ballester-Rosado, John T Le, Trang T Lam, Anne E Anderson, James D Frost, John W Swann
Igf-1 Impacts Neocortical Interneuron Connectivity In Epileptic Spasm Generation And Resolution, Carlos J Ballester-Rosado, John T Le, Trang T Lam, Anne E Anderson, James D Frost, John W Swann
Faculty, Staff and Students Publications
Little is known about the mechanisms that generate epileptic spasms following perinatal brain injury. Recent studies have implicated reduced levels of Insulin-like Growth Factor 1 (IGF-1) in these patients' brains. Other studies have reported low levels of the inhibitory neurotransmitter, GABA. In the TTX brain injury model of epileptic spasms, we undertook experiments to evaluate the impact of IGF-1 deficiencies on neocortical interneurons and their role in spasms. Quantitative immunohistochemical analyses revealed that neocortical interneurons that express glutamic acid decarboxylase, parvalbumin, or synaptotagmin 2 co-express IGF-1. In epileptic rats, expression of these three interneuron markers were reduced in the neocortex. …
Maternal Rest Improves Growth In Small-For-Gestational-Age Fetuses (<10th Percentile), Greggory R Devore, Bardo Polanco, Wesley Lee, Jeffrey Brian Fowlkes, Emma E Peek, Manesha Putra, John C Hobbins
Maternal Rest Improves Growth In Small-For-Gestational-Age Fetuses (<10th Percentile), Greggory R Devore, Bardo Polanco, Wesley Lee, Jeffrey Brian Fowlkes, Emma E Peek, Manesha Putra, John C Hobbins
Faculty, Staff and Students Publications
BACKGROUND: Optimal management of fetuses diagnosed as small for gestational age based on an estimated fetal weight ofHowever, maternal bed rest has not been recommended based on the results of a randomized clinical trial that showed that maternal rest does not improve fetal growth in small-for-gestational-age fetuses. This study was conducted to revisit this question.
OBJECTIVE: This study aimed to determine whether maternal bed rest was associated with an increase in the fetal biometric parameters that reflect growth after the diagnosis of a small-for-gestational-age fetus.
STUDY DESIGN: A retrospective study was conducted on fetuses who were diagnosed as small for …
Long-Term Health-Related Quality Of Life In Kawasaki Disease-Related Coronary Artery Aneurysm: A Large Single-Center Assessment In Nanjing, China, Yun Zhou, Mei Chen, Wenting Gao, Yu Chen, Ying Meng
Long-Term Health-Related Quality Of Life In Kawasaki Disease-Related Coronary Artery Aneurysm: A Large Single-Center Assessment In Nanjing, China, Yun Zhou, Mei Chen, Wenting Gao, Yu Chen, Ying Meng
The Texas Heart Institute Journal
BACKGROUND: The impact of coronary artery aneurysms (CAAs) caused by Kawasaki disease (KD) on long-term health-related quality of life (HRQOL) in children has not been well documented.
METHODS: This study investigated long-term HRQOL in a large sample of children diagnosed with KD-related CAAs. A case-control, retrospective study included 66 patients with KD-related CAAs. A total of 98 hospitalized patients were matched as controls based on age and sex: 49 patients were allocated to a group with pneumonia and 49 patients were allocated to a group with arterio-arterial fistula. Both child-reported and parent-proxy-reported Pediatric Quality of Life Inventory surveys were collected. …
Midterm Outcomes Of Pediatric Mitral Valvuloplasty For Moderate To Severe Mitral Valve Regurgitation And Associated Risk Factors For Postoperative Deterioration, Hongyuan Fu, Aijun Liu, Ming Yang, Zeyu Liu, Junwu Su
Midterm Outcomes Of Pediatric Mitral Valvuloplasty For Moderate To Severe Mitral Valve Regurgitation And Associated Risk Factors For Postoperative Deterioration, Hongyuan Fu, Aijun Liu, Ming Yang, Zeyu Liu, Junwu Su
The Texas Heart Institute Journal
BACKGROUND: Mitral valvuloplasty is considered the best treatment for pediatric mitral valve regurgitation. The objective of this analysis was to identify risk factors for postoperative mitral valve regurgitation progression and evaluate valvuloplasty effectiveness.
METHODS: This retrospective, single-center study investigated the clinical efficacy of mitral valvuloplasty and identified factors that affect prognosis. Pediatric patients with moderate or severe mitral valve regurgitation who had undergone mitral valvuloplasty between September 2016 and August 2023 were included. Kaplan-Meier survival analysis was used to assess freedom from both mitral valve deterioration and cardiovascular death. Univariate and multivariate Cox regression analyses were performed to identify potential …
Prediction Of Preterm Birth Among Infants With Orofacial Cleft Defects, Katherine L Ludorf, Renata H Benjamin, Mark A Canfield, Michael D Swartz, A J Agopian
Prediction Of Preterm Birth Among Infants With Orofacial Cleft Defects, Katherine L Ludorf, Renata H Benjamin, Mark A Canfield, Michael D Swartz, A J Agopian
Faculty, Staff and Student Publications
Objective: To develop risk prediction models for preterm birth among infants with orofacial clefts.
Design: Data from the Texas Birth Defects Registry for infants with orofacial clefts born between 1999-2014 were used to develop preterm birth predictive models. Logistic regression was used to consider maternal and infant characteristics, and internal validation of the final model was performed using bootstrapping methods. The area under the curve (AUC) statistic was generated to assess model performance, and separate predictive models were built and validated for infants with cleft lip and cleft palate alone. Several secondary analyses were conducted among subgroups of interest.
Setting: …
Investigating Protective And Risk Factors And Predictive Insights For Aboriginal Perinatal Mental Health: Explainable Artificial Intelligence Approach, Guanjin Wang, Hachem Bennamoun, Wai Hang Kwok, Jenny Paola Ortega Quimbayo, Bridgette Kelly, Trish Ratajczak, Rhonda Marriott, Roz Walker, Jayne Kotz
Investigating Protective And Risk Factors And Predictive Insights For Aboriginal Perinatal Mental Health: Explainable Artificial Intelligence Approach, Guanjin Wang, Hachem Bennamoun, Wai Hang Kwok, Jenny Paola Ortega Quimbayo, Bridgette Kelly, Trish Ratajczak, Rhonda Marriott, Roz Walker, Jayne Kotz
Research outputs 2022 to 2026
Background: Perinatal depression and anxiety significantly impact maternal and infant health, potentially leading to severe outcomes like preterm birth and suicide. Aboriginal women, despite their resilience, face elevated risks due to the long-term effects of colonization and cultural disruption. The Baby Coming You Ready (BCYR) model of care, centered on a digitized, holistic, strengths-based assessment, was co-designed to address these challenges. The successful BCYR pilot demonstrated its ability to replace traditional risk-based screens. However, some health professionals still overrely on psychological risk scores, often overlooking the contextual circumstances of Aboriginal mothers, their cultural strengths, and mitigating protective factors. This highlights …
Effects Of Pregnancy And Lactation Prebiotics Supplementation On Infant Allergic Disease: A Randomized Controlled Trial, Debra J. Palmer, Alana R. Cuthbert, Thomas R. Sullivan, Rachelle A. Pretorius, Johan Garssen, Kristina Rueter, Maria C. Jenmalm, Jeffrey A. Keelan, Desiree Silva, Susan L. Prescott
Effects Of Pregnancy And Lactation Prebiotics Supplementation On Infant Allergic Disease: A Randomized Controlled Trial, Debra J. Palmer, Alana R. Cuthbert, Thomas R. Sullivan, Rachelle A. Pretorius, Johan Garssen, Kristina Rueter, Maria C. Jenmalm, Jeffrey A. Keelan, Desiree Silva, Susan L. Prescott
Research outputs 2022 to 2026
Background: Ingestion of prebiotics during pregnancy and lactation may have immunomodulatory benefits for the developing fetal and infant immune system and provide a potential dietary strategy to reduce the risk of allergic diseases. Objective: We sought to determine whether maternal supplementation with dietary prebiotics reduces the risk of allergic outcomes in infants with hereditary risk. Methods: We undertook a double-blind randomized controlled trial in which pregnant women were allocated to consume prebiotics (14.2 g daily of galacto-oligosaccharides and fructo-oligosaccharides in the ratio 9:1) or placebo (8.7 g daily of maltodextrin) powder from less than 21 weeks’ gestation until 6 months …
Biallelic Variation In The Choline And Ethanolamine Transporter Flvcr1 Underlies A Severe Developmental Disorder Spectrum, Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S Abdel-Hamid, Lama Alabdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Amber Begtrup, Houda Elloumi, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ali Mardi, Farzad Hashemi-Gorji, Ebtesam Abdalla, M Chiara Manzini, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R Lupski, Long N Nguyen
Biallelic Variation In The Choline And Ethanolamine Transporter Flvcr1 Underlies A Severe Developmental Disorder Spectrum, Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S Abdel-Hamid, Lama Alabdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Amber Begtrup, Houda Elloumi, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ali Mardi, Farzad Hashemi-Gorji, Ebtesam Abdalla, M Chiara Manzini, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R Lupski, Long N Nguyen
Faculty, Staff and Students Publications
Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1-/- mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1 variants in humans have previously only been linked to childhood or adult-onset ataxia, sensory neuropathy, and retinitis pigmentosa.
Methods: We identified individuals with undiagnosed neurodevelopmental disorders and biallelic FLVCR1 variants through international data sharing and characterized the functional consequences of their FLVCR1 variants.
Results: We ascertained 30 patients from 23 unrelated families with biallelic FLVCR1 variants and characterized a novel FLVCR1-related phenotype: severe developmental disorders with profound developmental delay, microcephaly …
Comprehensive Genomic Analysis Reveals Molecular Heterogeneity In Pediatric Alk-Positive Anaplastic Large Cell Lymphoma, Timothy I Shaw, Stanley Pounds, Xueyuan Cao, Jing Ma, Gustavo Palacios, John Mason, Sherrie Perkins, Gang Wu, Yiping Fan, Jian Wang, Xin Zhou, Alyssa Obermayer, Marsha C Kinney, Jacqueline Kraveka, Thomas Gross, John Sandlund, Jinghui Zhang, Charles Mullighan, Megan S Lim, Vasiliki Leventaki
Comprehensive Genomic Analysis Reveals Molecular Heterogeneity In Pediatric Alk-Positive Anaplastic Large Cell Lymphoma, Timothy I Shaw, Stanley Pounds, Xueyuan Cao, Jing Ma, Gustavo Palacios, John Mason, Sherrie Perkins, Gang Wu, Yiping Fan, Jian Wang, Xin Zhou, Alyssa Obermayer, Marsha C Kinney, Jacqueline Kraveka, Thomas Gross, John Sandlund, Jinghui Zhang, Charles Mullighan, Megan S Lim, Vasiliki Leventaki
Faculty, Staff and Student Publications
Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that accounts for 10-15% of childhood lymphomas. Despite the observation that more than 90% of pediatric cases harbor the anaplastic lymphoma kinase (ALK) rearrangement resulting in aberrant ALK kinase expression, there is significant clinical, morphologic, and biological heterogeneity. To gain insights into the genomic aberrations and molecular heterogeneity within ALK-positive ALCL (ALK+ ALCL), we analyzed 46 pediatric ALK+ ALCLs by whole-exome sequencing, RNA sequencing, and DNA methylation profiling. Whole-exome sequencing found on average 25 SNV/Indel events per sample with recurring genetic events in regulators of DNA damage (TP53, MDM4), transcription …
Accumulated Seizure Burden Predicts Neurodevelopmental Outcome At 36 Months Of Age In Patients With Tuberous Sclerosis Complex, S Katie Z Ihnen, Samuel Alperin, Jamie K Capal, Alexander L Cohen, Jurriaan M Peters, E Martina Bebin, Hope A Northrup, Mustafa Sahin, Darcy A Krueger
Accumulated Seizure Burden Predicts Neurodevelopmental Outcome At 36 Months Of Age In Patients With Tuberous Sclerosis Complex, S Katie Z Ihnen, Samuel Alperin, Jamie K Capal, Alexander L Cohen, Jurriaan M Peters, E Martina Bebin, Hope A Northrup, Mustafa Sahin, Darcy A Krueger
Faculty, Staff and Student Publications
Objective: Epilepsy and intellectual disability are common in tuberous sclerosis complex (TSC). Although early life seizures and intellectual disability are known to be correlated in TSC, the differential effects of age at seizure onset and accumulated seizure burden on development remain unclear.
Methods: Daily seizure diaries, serial neurodevelopmental testing, and brain magnetic resonance imaging were analyzed for 129 TSC patients followed from 0 to 36 months. We used machine learning to identify subgroups of patients based on neurodevelopmental test scores at 36 months of age and assessed the stability of those subgroups at 12 months. We tested the ability of …
Phenotypic Variation In Disease Severity Among Hospitalized Pediatric Patients With Covid-19: Assessing The Impact Of Covid-19 In The Epico Study, María Camila Sossa-Alarcón, Mónica Paola Gutiérrez, Natalia Becerra, Luz Yessenia Ortegon, María Camila David, Melisa Naranjo Vanegas, Gabriela Friedrich, Pablo Vásquez-Hoyos, María Lucía Mesa-Rubio, Luis Miguel Navarro-Ramirez, Sergio Moreno-Lopez, Olga Lucía Baquero, Luz Marina Mejía, Juan Gabriel Piñeros, Sonia Restrepo-Gualteros, Carlos Álvarez-Moreno, Alejandro Díaz-Díaz, Iván Gutierrez-Tobar, Andrés Camilo Mesa, William Ricardo Bachiller Tuta, Clara Esperanza Galvis Diaz, Martha Africano, José Manuel Nieto, Paola Marsela Pérez Camacho, Claudia Beltrán-Arroyave, Rosalba Vivas Trochez, Irati Gastesi, Cinta Moraleda, Alfredo Tagarro García, Blanca Herrero, Lourdes Calleja, Carlos Grasa, Paula Rodriguez, Susana Melendo, Antoni Soriano-Arandes, Irene Gómez Pastrana, Sonsoles García García, Victoria Fumado, Andrea Ramírez Varela
Phenotypic Variation In Disease Severity Among Hospitalized Pediatric Patients With Covid-19: Assessing The Impact Of Covid-19 In The Epico Study, María Camila Sossa-Alarcón, Mónica Paola Gutiérrez, Natalia Becerra, Luz Yessenia Ortegon, María Camila David, Melisa Naranjo Vanegas, Gabriela Friedrich, Pablo Vásquez-Hoyos, María Lucía Mesa-Rubio, Luis Miguel Navarro-Ramirez, Sergio Moreno-Lopez, Olga Lucía Baquero, Luz Marina Mejía, Juan Gabriel Piñeros, Sonia Restrepo-Gualteros, Carlos Álvarez-Moreno, Alejandro Díaz-Díaz, Iván Gutierrez-Tobar, Andrés Camilo Mesa, William Ricardo Bachiller Tuta, Clara Esperanza Galvis Diaz, Martha Africano, José Manuel Nieto, Paola Marsela Pérez Camacho, Claudia Beltrán-Arroyave, Rosalba Vivas Trochez, Irati Gastesi, Cinta Moraleda, Alfredo Tagarro García, Blanca Herrero, Lourdes Calleja, Carlos Grasa, Paula Rodriguez, Susana Melendo, Antoni Soriano-Arandes, Irene Gómez Pastrana, Sonsoles García García, Victoria Fumado, Andrea Ramírez Varela
Faculty, Staff and Student Publications
Objective: To characterize the clinical phenotypes of SARS-CoV-2 infection in hospitalized children as part of the EPICO multicenter cohort study.
Methods: We included hospitalized children with confirmed SARS-CoV-2 infection from Colombian and Spanish institutions to assess disease evolution and outcomes. Cluster analysis was performed to identify clinical phenotypes.
Results: A total of 2318 patients were included (55% male, 36% infants). Five phenotype clusters emerged: Cluster 1 (26.5%): infants without comorbidities, low PICU admissions and mortality; Cluster 2 (18.5%): respiratory comorbidities, high microorganism co-detection and mortality; Cluster 3 (11.5%): fever, gastrointestinal symptoms, high PICU admissions; Cluster 4 (32%): mild unspecific symptoms, …
Australian Fathers’ Experiences Of Caring For Their Preterm Infants, Esther Adama, Eric Adua, Evalotte Mörelius, Annie Chang, Ravisha Srinivasjois, Sara Bayes
Australian Fathers’ Experiences Of Caring For Their Preterm Infants, Esther Adama, Eric Adua, Evalotte Mörelius, Annie Chang, Ravisha Srinivasjois, Sara Bayes
Research outputs 2022 to 2026
Fathers and/or non-birthing partners are now actively involved in child-rearing globally; however some experience emotional difficulties during the perinatal period. With the birth of a preterm infant, parents experience additional stress beyond that normally engendered by having a baby, which can impact on parent-infant relationship and infant development. In Australia, there is limited evidence on fathers’ experiences of preterm birth. Thus, this study aimed to explore the experiences of Australian fathers of preterm infants including their emotional and physical wellbeing when they have a preterm infant. Narrative inquiry guided the study; 13 fathers whose preterm infant was admitted to Australian …
Saponin Tql1055 Adjuvant-Containing Vaccine Confers Protection Upon Mycobacterium Tuberculosis Challenge In Mice, Mushtaq Ahmed, Eric Farris, Rosemary V Swanson, Shibali Das, Yan Yang, Tyler Martin, Shabaana A Khader
Saponin Tql1055 Adjuvant-Containing Vaccine Confers Protection Upon Mycobacterium Tuberculosis Challenge In Mice, Mushtaq Ahmed, Eric Farris, Rosemary V Swanson, Shibali Das, Yan Yang, Tyler Martin, Shabaana A Khader
2020-Current year OA Pubs
Tuberculosis (TB), caused by the intracellular pathogen
Transition To Enteral Triazole Antifungal Therapy For Pediatric Invasive Candidiasis: Secondary Analysis Of A Multicenter Cohort Study Conducted By The Pediatric Fungal Network, Robert F T Bucayu, Craig L K Boge, Inci Yildirim, Martha Avilés-Robles, Surabhi B Vora, David M Berman, Tanvi S Sharma, Lillian Sung, Elio Castagnola, Debra L Palazzi, Lara Danziger-Isakov, Dwight E Yin, Emmanuel Roilides, Gabriela Maron, Alison C Tribble, Pere Soler-Palacin, Eduardo López-Medina, José Romero, Kiran Belani, Antonio C Arrieta, Fabianne Carlesse, Dawn Nolt, Natasha Halasa, Daniel Dulek, Sujatha Rajan, William J Muller, Monica I Ardura, Alice Pong, Blanca E Gonzalez, Christine M Salvatore, Anna R Huppler, Catherine Aftandilian, Mark J Abzug, Arunaloke Chakrabarti, Michael Green, Irja Lutsar, Elizabeth D Knackstedt, Sarah K Johnson, William J Steinbach, Brian T Fisher, Rachel L Wattier
Transition To Enteral Triazole Antifungal Therapy For Pediatric Invasive Candidiasis: Secondary Analysis Of A Multicenter Cohort Study Conducted By The Pediatric Fungal Network, Robert F T Bucayu, Craig L K Boge, Inci Yildirim, Martha Avilés-Robles, Surabhi B Vora, David M Berman, Tanvi S Sharma, Lillian Sung, Elio Castagnola, Debra L Palazzi, Lara Danziger-Isakov, Dwight E Yin, Emmanuel Roilides, Gabriela Maron, Alison C Tribble, Pere Soler-Palacin, Eduardo López-Medina, José Romero, Kiran Belani, Antonio C Arrieta, Fabianne Carlesse, Dawn Nolt, Natasha Halasa, Daniel Dulek, Sujatha Rajan, William J Muller, Monica I Ardura, Alice Pong, Blanca E Gonzalez, Christine M Salvatore, Anna R Huppler, Catherine Aftandilian, Mark J Abzug, Arunaloke Chakrabarti, Michael Green, Irja Lutsar, Elizabeth D Knackstedt, Sarah K Johnson, William J Steinbach, Brian T Fisher, Rachel L Wattier
Faculty, Staff and Students Publications
Of 319 children with invasive candidiasis, 67 (21%) transitioned from intravenous to enteral antifungal therapy. Eight (12%) transitioned back to intravenous antifungal therapy, one due to perceived treatment failure defined by clinical progression or worsening. Global treatment response at study completion was successful in 66 participants who transitioned to enteral therapy.
Effects On Maternal And Pregnancy Outcomes Of First-Trimester Malaria Infection Among Nulliparous Women From Kenya, Zambia, And The Democratic Republic Of The Congo, Sequoia I. Leuba, Daniel Westreich, Carl L. Bose, Andrew F. Olshan, Steve M. Taylor, Antoinette Tshefu, Adrien Lokangaka, Waldemar A. Carlo, Elwyn Chomba, Musaku Mwenechanya, Edward A. Liechty, Sherri L. Bucher, Osayame A. Ekhaguere, Fabian Esamai, Paul Nyongesa, Saleem Jessani, Sarah Saleem, Robert L. Goldenberg, Janet L. Moore, Tracy L. Nolen, Jennifer Hemingway-Foday, Elizabeth M. Mcclure, Marion Koso-Thomas, Richard Derman, Matthew Hoffman, Steven R. Meshnick, Melissa Bauserman
Effects On Maternal And Pregnancy Outcomes Of First-Trimester Malaria Infection Among Nulliparous Women From Kenya, Zambia, And The Democratic Republic Of The Congo, Sequoia I. Leuba, Daniel Westreich, Carl L. Bose, Andrew F. Olshan, Steve M. Taylor, Antoinette Tshefu, Adrien Lokangaka, Waldemar A. Carlo, Elwyn Chomba, Musaku Mwenechanya, Edward A. Liechty, Sherri L. Bucher, Osayame A. Ekhaguere, Fabian Esamai, Paul Nyongesa, Saleem Jessani, Sarah Saleem, Robert L. Goldenberg, Janet L. Moore, Tracy L. Nolen, Jennifer Hemingway-Foday, Elizabeth M. Mcclure, Marion Koso-Thomas, Richard Derman, Matthew Hoffman, Steven R. Meshnick, Melissa Bauserman
Department of Medicine Faculty Papers
BACKGROUND: Few studies have assessed the impact of first-trimester malaria infection during pregnancy. We estimated this impact on adverse maternal and pregnancy outcomes.
METHODS: In a convenience sample of women from the ASPIRIN (Aspirin Supplementation for Pregnancy Indicated risk Reduction In Nulliparas) trial in Kenya, Zambia, and the Democratic Republic of the Congo, we tested for first-trimester Plasmodium falciparum infection using quantitative polymerase chain reaction. We estimated site-specific effects on pregnancy outcomes using parametric g-computation.
RESULTS: Compared to uninfected women, we observed the adjusted site-specific prevalence differences (PDs) among women with first-trimester malaria of the following pregnancy outcomes: preterm birth …
The Camden Study - A Pregnancy Cohort Study Of Pregnancy Complications And Birth Outcomes In Camden, New Jersey, Usa., Stephanie Shiau, Xinhua Chen, Ayana April-Sanders, Ellen C Francis, Shristi Rawal, Megan Hansel, Kehinde Adeyemi, Zorimar Rivera-Núñez, Emily S Barrett
The Camden Study - A Pregnancy Cohort Study Of Pregnancy Complications And Birth Outcomes In Camden, New Jersey, Usa., Stephanie Shiau, Xinhua Chen, Ayana April-Sanders, Ellen C Francis, Shristi Rawal, Megan Hansel, Kehinde Adeyemi, Zorimar Rivera-Núñez, Emily S Barrett
Rowan-Virtua School of Osteopathic Medicine Departmental Research
BACKGROUND: Pregnancy is a unique stage of the life course characterized by trade-offs between the nutritional, immune, and metabolic needs of the mother and fetus. The Camden Study was originally initiated to examine nutritional status, growth, and birth outcomes in adolescent pregnancies and expanded to study dietary and molecular predictors of pregnancy complications and birth outcomes in young women.
METHODS: From 1985-2006, 4765 pregnant participants aged 12 years and older were recruited from Camden, NJ, one of the poorest cities in the US. The cohort reflects a population under-represented in perinatal cohort studies (45% Hispanic, 38% non-Hispanic Black, 17% White …