Medical Specialties Commons^™

Toward A Clinically Actionable, Electronic Health Record-Based Machine Learning Model To Forecast 90-Day Change In Hemoglobin A1c In Youth With Type 1 Diabetes: Feasibility And Model Development Study, Erin M. Tallon, David D. Williams, Cintya Schweisberger, Colin Mullaney, Brent Lockee, Diana Ferro, Craig Vandervelden, Mitchell S. Barnes, Angelica Cristello Sarteau, Anna R. Kahkoska, Susana R. Patton, Sanjeev Mehta, Ryan Mcdonough, Marcus Lind, Leonard D'Avolio, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Clinicians currently lack an effective means for identifying youth with type 1 diabetes (T1D) who are at risk for experiencing glycemic deterioration between diabetes clinic visits. As a result, their ability to identify youth who may optimally benefit from targeted interventions designed to address rising glycemic levels is limited. Although electronic health records (EHR)-based risk predictions have been used to forecast health outcomes in T1D, no study has investigated the potential for using EHR data to identify youth with T1D who will experience a clinically significant rise in glycated hemoglobin (HbA1c) ≥0.3% (approximately 3 mmol/mol) between diabetes clinic visits. …

Associations Between Adhering To 24-Hour Movement Guidelines And Anxiety Among Adolescents Across Intersectional Identities: Kyrbs 2020-2022., Suryeon Ryu, Eun Young Lee, Zan Gao

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Identifying preventive measures for adolescent mental health is a global public health priority, as poor mental health heightens the risk of early death from related issues, including suicide. This study examined the associations between adherence to the 24-Hour Movement Guidelines and anxiety among a nationally representative sample of South Korean adolescents, using an intersectional identity framework.

METHODS: Data from the 2020-2022 Korea Youth Risk Behavior Surveys were analyzed. Adolescents aged 12-17 years were grouped based on adherence to guidelines: none, physical activity (PA), sedentary behavior (SB), sleep, two guideline combinations, and all three. Anxiety was the mental health outcome. …

Fetal Congenital Complete Heart Block: 2 Success Stories Through Multidisciplinary Care., Mohamed Aashiq Abdul Ghayum, Jenna Schermerhorn, Hayley S. Hancock, Lindsey Malloy-Walton, Steven Olsen, Laura Vricella, Kelsey Brattrud, Melanie Kathol, Rita France, Maria Kiaffas

Manuscripts, Articles, Book Chapters and Other Papers

Congenital complete heart block (CCHB) is a rare condition associated with significant fetal and neonatal mortality. It may present as an isolated conduction abnormality in association with autoimmune disease, or in conjunction with congenital heart defects including heterotaxy-polysplenia syndrome. Early prenatal diagnosis and coordinated perinatal care are critical for improving outcomes. We present 2 cases of prenatally diagnosed CCHB. The first occurred in a fetus with heterotaxy-polysplenia syndrome, and the second in the setting of maternal anti-SSA antibody exposure. Both fetuses developed progressive bradycardia, with heart rates declining to < 50 beats/min, necessitating close fetal surveillance and individualized perinatal management. Preterm delivery and prompt placement of temporary pacing wires allowed initial stabilization before eventual definitive management, resulting in survival. The successful outcomes in these neonates highlight the critical role of multidisciplinary prenatal care, timely delivery planning, and early postnatal intervention in improving survival in fetuses diagnosed with CCHB.

Pediatric Sickle Cell Disease Overview And Treatment, Michael Smith, Shabnam Arsiwala

Pediatrics in Practice: A CME Podcast

In this episode, we sit down with Dr. Shabnam Arsiwala, a leading pediatric specialist in sickle cell disease, to explore the essentials of caring for children living with this complex condition. Dr. Arsiwala shares insights on early diagnosis, routine management and the role of hydroxyurea in treatment. We also discuss common complications, psychosocial support for families, and exciting innovations on the horizon. Whether you're a general pediatrician or a specialist, this conversation offers practical guidance and fresh perspectives to enhance your clinical care.

Click here to stream the podcast episode.

Semilunar Valve Replacement With A Telescoping Arterial Trunk Valve, Edo Bedzra, Herra Javed, James E. O'Brien, Taufiek Konrad Rajab

Manuscripts, Articles, Book Chapters and Other Papers

A bicuspid aortic valve, from autologous tissue, with growth potential can be constructed using the simple, and reproducible telescoping arterial trunk technique.

Salvage Therapies For First Relapse Of Shh Medulloblastoma In Early Childhood., Craig Erker, Martin Mynarek, Marie Simbozel, Brandon T. Craig, Virginia L. Harrod, Andrea M. Cappellano, Kenneth J. Cohen, Vicente Santa-Maria Lopez, Andres Morales La Madrid, Chantel Cacciotti, Lorena Baroni, Ralph Salloum, Ashley S. Margol, George Michaiel, Dolly Aguilera, Claire M. Mazewski, Cassie N. Kline, Jonathan L. Finlay, Mohamed S. Abdelbaki, Jeffrey C. Murray, Kathleen Dorris, Bruce Crooks, Kevin Ginn, Nisreen Amayiri, Stephan Tippelt, Gudrun Fleischhack, Svenja Tonn, Nicolas U. Gerber, Alvaro Lassaletta, Jordan R. Hansford, Sara Khan, Stephen W. Gilheeney, Lindsey M. Hoffman, Michal Zapotocky, Valérie Larouche, Shafqat Shah, Vijay Ramaswamy, Amar Gajjar, Sébastien Perreault, Sabine Mueller, Juliette Hukin, Sylvia Cheng, Zhihong J. Wang, Kara Matheson, Simon Bailey, Eric Bouffet, Steven C. Clifford, Giles Robinson, Christelle Dufour, Stefan Rutkowski, Lucie Lafay-Cousin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Sonic hedgehog (SHH) medulloblastoma is the most common molecular group of infant and early childhood medulloblastoma (iMB) and has no standard of care at relapse. This work aimed to evaluate the post-relapse survival (PRS) and explore prognostic factors of patients with nodular desmoplastic (ND) and/or SHH iMB.

METHODS: This international retrospective study included 147 subjects diagnosed with relapsed ND/SHH iMB between 1995 and 2017, < 6 years old at original diagnosis, and treated without initial craniospinal irradiation (CSI). Univariable and multivariable Cox models with propensity score analyses were used to assess PRS for those in the curative intent cohort.

RESULTS: The 3-year PRS was 61.6% (95% confidence interval [CI], 52.2-69.6). The median age at relapse was 3.4 years (interquartile range [IQR], 2.6-4.1). Those with local relapse (40.8%) more often received salvage treatment with surgery …

Antiviral Use Among Children Hospitalized With Laboratory-Confirmed Influenza Illness: A Prospective, Multicenter Surveillance Study., James W. Antoon, Justin Z. Amarin, Olla Hamdan, Tess Stopczynski, Laura S. Stewart, Marian G. Michaels, John V. Williams, Eileen J. Klein, Janet A. Englund, Geoffrey A. Weinberg, Peter G. Szilagyi, Jennifer E. Schuster, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Leila C. Sahni, Flor M. Muñoz, Mary Allen Staat, Elizabeth P. Schlaudecker, James D. Chappell, Benjamin R. Clopper, Heidi L. Moline, Angela P. Campbell, Andrew J. Spieker, Samantha M. Olson, Natasha B. Halasa

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Guidelines state that all hospitalized children with suspected or confirmed influenza receive prompt treatment with influenza-specific antivirals. We sought to determine the frequency of, and factors associated with, antiviral receipt among hospitalized children.

METHODS: We conducted active surveillance of children presenting with fever or respiratory symptoms from 1 December 2016 to 31 March 2020 at 7 pediatric medical centers in the New Vaccine Surveillance Network. The cohort consisted of children hospitalized with influenza A or B confirmed by clinical or research testing. The primary outcome was frequency of antiviral receipt during hospitalization. We used logistic regression to obtain adjusted …

Evaluation Of In Vivo Car Transgene Levels In Tisagenlecleucel-Treated Patients With Relapsed/Refractory B-All And Dlbcl., Rakesh Awasthi, Stephan A. Grupp, Edward R. Waldron, Gregory A. Yanik, Constantine S. Tam, Susana Rives, Joseph P. Mcguirk, Michael A. Pulsipher, Ulrich Jaeger, Douglas Myers, Peter Borchmann, Stephen J. Schuster, Heather E. Stefanski, Michael R. Bishop, Abhijit Chakraborty, Aisha Masood, André Baruchel, Edmund K. Waller

Manuscripts, Articles, Book Chapters and Other Papers

Tisagenlecleucel is a CD19-directed autologous chimeric antigen receptor (CAR) T-cell therapy. Quantitative polymerase chain reaction assays are highly sensitive in defining in vivo kinetics by measuring CAR transgene in peripheral blood. This study aimed to identify clinically meaningful CAR T-cell blood levels that correlated with response/relapse. In pediatric/young adult patients with relapsed/refractory (R/R) B-cell acute lymphoblastic leukemia (B-ALL), maximum CAR T-cell blood levels were higher in patients with ongoing complete remission and in patients with CD19- relapse relative to those with CD19+ relapse. In adult patients with R/R diffuse large B-cell lymphoma (DLBCL), no apparent association between in vivo kinetics …

Clinical Testing For Covid-19, Influenza, And Rsv In Hospitalized Youths, 2016-2024., Ariana P. Toepfer, Rachel E. Rutkowski, Leila C. Sahni, Geoffrey A. Weinberg, Marian G. Michaels, Rangaraj Selvarangan, Mary Allen Staat, Natasha Halasa, Janet A. Englund, Julie A. Boom, Peter G. Szilagyi, Jennifer E. Schuster, Elizabeth P P. Schlaudecker, Laura S. Stewart, Eileen J. Klein, Samantha M. Olson, Sascha Ellington, Meredith L. Mcmorrow, Heidi L. Moline, Fatimah S. Dawood, New Vaccine Surveillance Network Collaborators

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Studies of COVID-19, influenza, and respiratory syncytial virus (RSV) disease clinical epidemiology, disease burden, and vaccine effectiveness often rely on clinical testing to identify cases, particularly with increasing use of electronic health record data. However, few data are available describing clinical testing practices to inform interpretation of these studies.

OBJECTIVE: To characterize clinical testing frequency for SARS-CoV-2, influenza, and RSV among children and adolescents hospitalized with acute respiratory illness during the 2016 to 2024 respiratory illness seasons by age, intensive care unit admission, and time period (2016-2020 and each season in 2020-2024); estimate the case fraction missed by clinical …

High-Frequency And Conventional Ventilation In Very Low Birth Weight Neonates During Interfacility Transport, Trevor Cabrera, Janelle R. Noel-Macdonnell, Emily Mcnellis

Posters

Background: Very low birth weight (VLBW) neonates (≤1500 grams) transported across neonatal facilities often require advanced respiratory support, including high-frequency ventilation (HFV). While HFV use in this setting has increased, data evaluating its safety and efficacy in the VLBW population remain limited. We hypothesized that HFV will provide a safe modality to transport sick VLBW infants. Objectives: To present a comparative experience of safety and efficacy of HFV and CV in VLBW neonates during interfacility transport. Methods: We retrospectively reviewed neonates ≤1500g who received invasive ventilation during interfacility transport by our transport team between January 2019 and December 2022. HFV …

Discontinuous Or Attenuated Background, Absent Sleep Architecture, Absent Reactivity, And Presence Of Subclinical Seizures On Continuous Electroencephalography Are Associated With Unfavorable Short-Term Outcome Following Pediatric Severe Traumatic Brain Injury​, Xuexin Lu, Ara Hall, Yong Y. Han, Madeline Burdick, Avner Moeded, Isabella Boedefeld, Christian Kaufman, Jessica S. Wallisch

Presentations

BACKGROUND/PURPOSE: Accurate prognostication following pediatric severe traumatic brain injury (sTBI) remains challenging. Adult neuroprognostication guidelines recommend the use of prediction models that have not yet been validated in pediatric patients. We hypothesized certain continuous electroencephalography (cEEG) characteristics would be associated with unfavorable short-term outcome. METHODS: This was an IRB-approved, 7-year retrospective cohort study of children aged 1.5-18 years admitted to our PICU from 01/2018-12/2024 with sTBI and receiving cEEG monitoring per institutional standard management protocol. cEEG patterns (background, sleep architecture, reactivity, and electrographic seizure) during the first 12-hours of monitoring were analyzed for association with unfavorable short-term outcome at PICU …

Severe Thiopurine-Induced Myelosuppression In A Pediatric All Patient With The Nudt15 *1/*6 Genotype, Jillian Fry, Keith August, Terrie Flatt Do, Laura B. Ramsey

Posters

Introduction: Genetic variants in TPMT and NUDT15 that affect the metabolism of mercaptopurine (6MP) are routinely tested for to guide 6MP dosing. Nudix hydroxylase 15 (NUDT15) deficiency can cause myelosuppression when affected patients are treated with 6MP. The NUDT15 *6 allele is classified as having uncertain function by the Clinical Pharmacogenetics Implementation Consortium Guidelines given insufficient data to determine its phenotype. Here, we present the case of a pediatric patient with the NUDT15 *1/*6 genotype experiencing significant mercaptopurine-induced myelosuppression. Case Description: We present a 4-year-old female with standard risk-average precursor B-cell acute lymphoblastic leukemia treated per AALL1731. Exome sequencing reported …

Opioid Withdrawal Treatment: Buprenorphine/Naloxone (Suboxone), Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Cerebral Palsy Screening, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Penicillin Adverse Drug Reaction (Historical), Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Fever In The Returned Traveler, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

A Novel “Stairstep” Approach To The Management Of Extreme Hypernatremia Using Continuous Kidney Replacement Therapy And Hypertonic Saline, Bahar Barani, Xuexin Lu, Darcy Weidemann, Judith Vansickle, Vimal Chadha, Nathan Beins

Posters

Hypernatremia is defined as a serum sodium greater than 145 mEq/L and is due to either a deficit of free water or excess sodium intake. Extreme hypernatremia (sodium level > 190 mEq/L) is immediately life–threatening with mortality rates > 60%. It is especially challenging to avoid complications, such as permanent neurological injury, respiratory failure, and profound electrolyte derangement, when children are in kidney failure. Established guidelines are lacking for correcting such extreme levels due to a paucity of information in the literature, although general recommendations are to decrease levels by no more than 10-12 mEq/L per day to prevent neurological complications. We …

Recombinant Erythropoietin Use For Anemia Of Prematurity: A Three Year Since Center Experience, Hannah Darland, Krishna Dummula, Chaitali Mahajan, Vishal Pandey

Posters

Background: Anemia is a common disorder of prematurity secondary to limited blood volume, excessive blood draws, inadequate nutrition, poor iron reserves, and insufficient endogenous erythropoietin. While many NICUs use recombinant erythropoietin (rEpo) to treat anemia of prematurity, the absence of universal guidelines has led to variability in dosing and schedules. Here we present our experience on the use of rEpo in a level 3 NICU. Our unit protocol uses 400 IU/kg three times a week for a total of 9 doses if hematocrit < 30%. Objectives: The purpose of this study was to evaluate the response to rEpo in infants with anemia of prematurity. Methods: Charts of infants born between 2018 and 2020 with gestation ≤34 weeks who received rEpo for anemia of prematurity were retrospectively reviewed. We defined response to therapy as an increase of hematocrit by 5% from pre-treatment baseline. Infants who did not achieve the therapeutic goal or who received blood transfusions were considered non-responders. Neutropenia, thrombocytopenia, and retinopathy of prematurity (ROP) requiring treatment were treated as adverse events. Results: A total of 44 infants were treated with rEpo during the study period. Clinical characteristics are described in Table I. Average hematocrit at birth was 44.8±7.5 (32.7 to 60.8). Infants were started on rEPO at a median corrected age of 33.3 ±3 weeks and a weight of 1674±622 g. Average DOL was 37±18 at initiation of therapy. Average baseline hematocrit at the start of therapy was 27.9±1.8%. 80% of patients (35/44) responded with increase of hematocrit by >5%, 20% (9/44) did not respond. 75% of infants (33/44) received all 9 doses. 11 patients received …

No Suspicion For Nocarh: A Cautionary Tale Of Anchoring Bias, Nicole Demarco, Julia Allyson Hays, Bonnie Sullivan, Michael Price, Kimberly A. Horii, Shannon Haines

Posters

Introduction: Neonatal onset of cytopenia autoinflammation rash and hemophagocytic lymphohistiocytosis syndrome (NOCARH), a subset of hemophagocytic lymphohistiocytosis (HLH), is a rare and life-threatening condition characterized by uncontrolled immune response. It presents a diagnostic challenge in neonates due to the overlap of clinical features with other conditions, particularly congenital infections. We report a case of NOCARH in a late pre-term neonate, highlighting an atypical age group and the diagnostic difficulty of this syndrome. Case Presentation: A 1 day old ex-35 week er neonate presented to a level 4 NICU with chief complaints of pancytopenia,; an extensive petechialmaculopapular rash of on the …

Epidemiology And Microbiology Of Admission Surveillance Nasal Swabs In A Level Iv Neonatal Intensive Care Unit (Nicu) And Their Association With Subsequent Infections ​, Kedar Tilak, Neena Kanwar, Rangaraj Selvarangan, Venkatesh Sampath

Posters

Background Newborns, especially preterm infants, are highly susceptible to sepsis, a major cause of neonatal morbidity and mortality. Known risk factors include prematurity, low birth weight, prolonged NICU stay, and use of central venous catheters. The link between early nasal colonization (within the first week of life) and later infections is unclear. Although many NICUs screen for Staphylococcus aureus using nasal swabs, the predictive value of early colonization by other Gram-positive and Gram-negative bacteria is not well understood. In our NICU, admission nasal swabs were sent for aerobic cultures to detect these organisms, highlighting the need for further research into …

Pursuit Of A Full Night's Sleep, Kennison Adams, Andrew Donaldson, Brian S. Harvey

Posters

This project was a literature review and reflection upon the importance of having an osteoid osteoma on the differential for adolescent hip pain. The primary objective highlighted key attributes of this pathology and instructed readers to be vigilant in their assessment so that quicker diagnosis, management, and return to sport could occur.

"My Child Needs A Chance And A Choice To Talk About Their Pain": Parents' Experiences And Perspectives Of Pain Communication In Paediatric Rheumatology., Rebecca R. Lee, Jade Edwards, Danielle C. Mountain, Janet E. Mcdonagh, Mark Connelly, Tonya Palermo, Sarah Peters

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To investigate parents' experiences and perspectives about pain communication with healthcare professionals in paediatric rheumatology.

METHODS: Data were collected using semi-structured telephone interviews with parents of children/adolescents recruited from three UK tertiary paediatric rheumatology centres. A framework analysis was used to characterise parents' experiences and perspectives.

RESULTS: Eighteen parents participated. Their children had a median age of 13 years (SD= 3.16 years, Range= 6-16 years, 55 % male), with diagnoses of chronic primary pain (e.g. Ehlers Danlos syndrome/Hypermobility) and chronic secondary pain (e.g. Juvenile Idiopathic Arthritis). Data were organised into four themes: 1) Parents' active role in pain communication, …

Contemporary Characteristics And Outcomes Of Pediatric Oncology Patients Participating In Early Phase Clinical Trials., Avina Rami, Kira Bona, Suzanne Shusterman, Karen Wright, Andrew E. Place, Puja J. Umaretiya, Ketki Bhushan, Steven G. Dubois, Kevin Campbell

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Phase 1 or phase 1/2 trials are a first step in pediatric cancer drug development. Currently, there is a paucity of information regarding contemporary outcomes for pediatric patients enrolled in these trials. We describe characteristics and outcomes of patients enrolled in pediatric phase 1 clinical trials over a 9-year period at a single institution.

METHODS: We queried our clinical trials management system to generate a list of patients enrolled and treated on pediatric phase 1 or phase 1/2 trials from 2011 to 2019. We collected baseline demographics, clinical data, efficacy, and safety endpoints post-enrollment including: time to death, objective …

Changes In Child Placement After Child Abuse Pediatrics Consultation For Suspected Physical Abuse., Kristine A. Campbell, Antoinette L. Laskey, Daniel M. Lindberg, M Katherine Henry, Porcia Vaughn, James Anderst, Megan M. Letson, Angela N. Bachim, Nancy S. Harper, Carmen M. Coombs, Lori D. Frasier, Joanne N. Wood

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between child abuse pediatric (CAP) assessments and child welfare outcomes is unknown.

OBJECTIVE: To determine the association between a CAP determination of the likelihood of physical abuse and change in child placement. We hypothesized that child race would be associated with CAP determination of abuse likelihood and child welfare outcomes.

PARTICIPANTS AND SETTING: Children under age ten years with in-person CAP consultation and referral to child protective services for suspected physical abuse at a U.S. pediatric referral center participating in CAPNET, a CAP research network, from 02/2021 to 01/2023.

METHODS: We created a series of generalized estimating …

Association Between Chd And Cerebral Abscess: Insights From A National Database., Keats Ewing, Rohit Seath Loomba, Saul Flores, Enrique G. Villarreal, Juan S. Farias, Matthew Taylor Coghill

Manuscripts, Articles, Book Chapters and Other Papers

CHD has been historically associated with the development of cerebral abscess. This retrospective cohort study examines the association of CHD with the occurrence of cerebral abscess in an inpatient paediatric population. We analysed data from the Pediatric Health Information System database, an administrative database that captures data from participating children's hospitals in the United States. We included all patients admitted to participating paediatric ICUs between 2016 and 2021 for a total of 426,029 admissions. Including all admissions, 1,387 (0.3%) patients experienced a cerebral abscess, and of 80,927 (19%) patients with CHD, only 88 (0.1%) experienced a cerebral abscess (odds ratio …

Commentary On Witnessing Abusive Head Trauma: Accidents Show Higher Rates Of Intracranial Pathologies Than Shaking-Caution Is Warranted., Christopher Greeley, James Anderst

Manuscripts, Articles, Book Chapters and Other Papers

Response to Comment on Witnessing Abusive Head Trauma: Accidents Show Higher Rates of Intracranial Pathologies Than Shaking

• Chris B. Brook

• Volume 3Issue 3Annals of the Child Neurology Society
• pages: 255-256
• First Published online: August 4, 2025

Eular/Acr Classification Criteria For Paediatric Chronic Nonbacterial Osteomyelitis (Cno)., Yongdong Zhao, Melissa S. Oliver, Anja Schnabel, Eveline Y. Wu, Zhaoyi Wang, Achille Marino, Cassyanne L. Aguiar, Jonathan D. Akikusa, Ummusen Kaya Akca, Beverley Almeida, Simone Appenzeller, Erin Balay-Dustrude, Ozge Basaran, Matthew L. Basiaga, Yelda Bilginer, David A. Cabral, Martina Capponi, Nathan Donaldson, Bugra Han Egeli, Emily Fox, Antonella Insalaco, Ramesh S. Iyer, Annette F. Jansson, Inna Kostik, Mikhail Kostik, Leonard K. Kovalick, Katia Tomie Kozu, Sivia K. Lapidus, Tzielan C. Lee, Aleksander Lenert, Kamran Mahmood, Edoardo Marrani, Doaa Mosad Mosa, Ian Muse, Alexander Mushkin, Katherine D. Nowicki, Farzana Nuruzzaman, Karen Onel, Manuela Pardeo, Trang Sophia Pham, Lauren Potts, Athimalaipet V. Ramanan, Angelo Ravelli, Nathan D. Rogers, Andrew W. Grim, Micol Romano, Natalie Rosenwasser, Takashi Shawn Sato, Gabriele Simonini, Jennifer B. Soep, Sara M. Stern, Timmy Strauss, Angela Taneja Kohli, Alexander C. Theos, Lori B. Tucker, Leslie F. Vogel, Shima Yasin, Stephen C. Wong, Katerina Bouchalova, Alison M. Hendry, Kevin C. Cain, Hermann J. Girschick, Fatma Dedeoglu, Christian M. Hedrich, Ronald M. Laxer, Polly J. Ferguson, Raymond Naden, Seza Ozen

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To develop and validate classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO) jointly supported by the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR).

METHODS: This international initiative had 4 phases: (1) candidate items were proposed in a survey of paediatric rheumatologists, (2) criteria definition and reduction by Delphi and nominal group technique exercises, (3) criteria weighting using multicriteria decision analysis, and (4) refinement of weights and threshold score in a development cohort of 441 patients and validation in another cohort of 514 patients.

RESULTS: The new EULAR/ACR classification criteria for CNO require …

Phenotypic Divergence Of Jag1- And Notch2-Associated Alagille Syndrome & Disease-Specific Notch2 Variant Classification Guidelines., Shannon M. Vandriel, Li-Ting Li, Huiyu She, Jian-She Wang, Kathleen M. Loomes, David A. Piccoli, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzińska, Lorenzo D'Antiga, Emanuele Nicastro, Florence Lacaille, Dominique Debray, Étienne M. Sokal, Tanguy Demaret, Rima L. Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Björn Fischler, Henrik Arnell, Catherine Larson-Nath, Winita Hardikar, Sahana Shankar, Shikha S. Sundaram, Alexander Chaidez, Pinar Bulut, Pier Luigi Calvo, Mureo Kasahara, Niviann Blondet, Eberhard Lurz, Anna-Maria Kavallar, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Noelle H. Ebel, Jeffrey A. Feinstein, Susan M. Siew, Michael O. Stormon, Saul J. Karpen, Rene Romero, M Kyle Jensen, Catalina Jaramillo, James E. Squires, Sarah M. Bedoyan, Deirdre A. Kelly, Jane Hartley, Henkjan J. Verkade, Way Seah Lee, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Henry C. Lin, Nathalie Rock, Yael Mozer-Glassberg, Amin J. Roberts, Helen M. Evans, Wikrom Karnsakul, Gabriella Nebbia, Victorien M. Wolters, Pamela L. Valentino, Jesus Quintero Bernabeu, Amal A. Aqul, Cigdem Arikan, María Legarda Tamara, Cristina Molera Busoms, Thomas Damgaard Sandahl, Giuseppe Indolfi, Andréanne N. Zizzo, Aglaia Zellos, Ruben E. Quiros-Tejeira, Ermelinda Santos-Silva, Kathleen B. Schwarz, Jernej Brecelj, Maria Camila Sanchez, Maria Lorena Cavalieri, Christos Tzivinikos, Sabina Wiecek, John Eshun, Nanda Kerkar, Quais Mujawar, Zerrin Önal, Cristina Gonçalves, Jennifer Garcia, Seema Alam, Carolina Jimenez-Rivera, Luis Bujanda, Richard J. Thompson, Bettina E. Hansen, Nancy B. Spinner, Melissa A. Gilbert, Binita M. Kamath, Global Alagille Alliance (Gala) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND & AIMS: Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease-causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely understood, making classification of variants more challenging. Using a large, international patient cohort acquired through the Global ALagille Alliance (GALA) study, we sought to improve classification of NOTCH2 variants and study phenotypic differences between NOTCH2- and JAG1-related disease.

METHODS: Clinical and molecular data from 952 individuals with ALGS in GALA were analysed and …

Timely Resection Of Juvenile Nasopharyngeal Angiofibroma Following Embolization For Uncontrolled Acute Epistaxis Case Report., Koffi L. Lakpa, Timothy Mcculloch, Michael D. Puricelli

Manuscripts, Articles, Book Chapters and Other Papers

Uncontrolled epistaxis in patients with juvenile nasopharyngeal angiofibroma requires prompt intervention. When embolization is required, neovascularization can occur, making expedited surgical resection essential. We conducted a single-institution, retrospective review of one patient. This case study details the patient's clinical presentation and his preoperative, intraoperative, and postoperative course. We present the management of a 14-year-old male with a juvenile nasopharyngeal angiofibroma, who 3 days after initial evaluation at our institution, developed uncontrolled epistaxis requiring embolization at an outside hospital before transfer back to our institution for further management. He initially presented to an outside emergency department with acute epistaxis refractory to …

Lip Tie Management And Treatment, Bob Underwood, Jairrah Godsil

Pediatrics in Practice: A CME Podcast

In this episode, we’re joined by Jairrah Godsil, Occupational Therapist at Children’s Mercy, to explore the often misunderstood topic of lip ties in infants. Jairrah shares how lip ties can impact feeding, oral motor development, and long-term function—and what pediatricians should look for during early assessments. We’ll also discuss the importance of a multidisciplinary approach, the role of occupational therapy in treatment, and how to navigate the balance between anatomical structure and functional impact. Whether you’re seeing infants in your clinic or collaborating with feeding specialists, this conversation offers practical insights you won’t want to miss.

Click here to stream …