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Pediatrics

Submissions from 2021 2021

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss, Mary-Alice Abbott MD

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum, Mary-Alice Abbott MD

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome, Mary-Alice Abbott MD

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease, Mary-Alice Abbott MD

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder, Mary-Alice Abbott MD

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy, Mary-Alice Abbott MD

Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome, Mary-Alice Abbott MD

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the Caudal Type Homeobox 2 gene, Mary-Alice Abbott MD and Courtney Manning

Prolonged outbreak of clonal, mupirocin-resistant methicillin-resistant Staphylococcus aureus in a neonatal intensive care unit: association with personnel and a possible environmental reservoir, analyzed using whole genome sequencing, Joanna Beachy MD

Use of MASCC score in the inpatient management of febrile neutropenia: a single-center retrospective study, Prarthna Bhardwaj MD, Alex Knee, Fatima Ali MD, Ritika Walia MD, Prithwijit Roychowdhury, and Jackson Clark MD

Unmasking of Addison's disease in COVID-19, Pallav Bhattarai MD, Holley Allen MD, Abhimanyu Aggarwal MD, Daniel Madden MD, and Kristen Dalton MD

Pediatric Chair Turnover and Demographics, Charlotte Boney MD

The Incidence of Erosive Esophagitis as a Complication of Pediatric Diabetic Ketoacidosis, Charlotte Boney MD

Traumatic Head Injury and the Diagnosis of Abuse: A Cluster Analysis, Stephen Boos MD

Mother-Infant Dyads with COVID-19 at an Urban, Safety-Net Hospital: Clinical Manifestations and Birth Outcomes, Ingrid Camelo

Pediatric Endocrinology in the Time of COVID-19: Considerations for the Rapid Implementation of Telemedicine and Management of Pediatric Endocrine Conditions, Rushika Conroy MD

A Quality Improvement Approach to Decreasing Postdischarge Acute Care Reuse Among Children With Asthma, Jacqueline Fable MD

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts, Donna Fisher MD

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts, Donna Fisher MD

Return of the Banana Knife: An Alternative Instrument for Laparoscopic Pyloromyotomy, Heather Grant MD, Gregory Banever MD, Kevin Moriarty MD, Victoria Pepper MD, David Tashjian MD, and Michael Tirabassi MD

Metabolic and bariatric surgery is likely safe, but underutilized in adolescents aged 13-17 years, Heather Grant MD and Aixa Perez-Caraballo MD

Impact of maternal medication for opioid use disorder on neurodevelopmental outcomes of infants treated for neonatal opioid withdrawal syndrome, R King, Elizabeth Peacock-Chambers MD, Donna M. Wilson, Sheila Foss, Paul Visintainer, and Rachana Singh MD

The Role of Breast Milk in Infectious Disease, Laura Madore MD and Donna Fisher MD

Incidence of Multisystem Inflammatory Syndrome in Children Among US Persons Infected With SARS-CoV-2, Kimberly Marohn MD

Implementation of a Standardized Approach To Improve the Pediatric Discharge Medication Process, Christine Marrese

Incidental Hepatic Granulomata as the Initial Presentation of Crohn's Disease in a Pediatric Patient, Mojdeh Mostafavi MD, Wael Sayej MD, Blake Hansen MD, Anthony Cretara MD, James Mueller MD, and Barry Hirsch MD

Bolus Gastric Feeds Improve Nutritional Delivery to Mechanically Ventilated Pediatric Medical Patients: Results of the COntinuous vs BOlus (COBO2) Multi-Center Trial, Sholeen Nett MD

Caring for Families with Young Children Affected by Substance Use Disorder: Needed Changes, Elizabeth Peacock-Chambers MD

Mothering from the Inside Out: Addressing the Intersection of Addiction, Adversity, and Attachment with Evidence-Based Parenting Intervention, Elizabeth Peacock-Chambers MD

Engagement in perinatal outpatient services among women in recovery from opioid use disorders, Elizabeth Peacock-Chambers MD and Peter Friedmann MD

Editorial: History of Growth Hormone: Animal to Human, Edward Reiter MD

Human Growth and Growth Hormone: From Antiquity to the Recominant Age to the Future, Edward Reiter MD

Are We Making Progress in the Hunt for Biomarkers that could differentiate PPI-Responsive Eosinophilic Esophagitis?, Wael Sayej MD

Use of glucagon-like peptide-1 receptor agonistsfor pediatric patients with obesity and diabetes: the providers' perspectives, Ksenia Tonyushkina MD

Association of Maternal Perinatal SARS-CoV-2 Infection With Neonatal Outcomes During the COVID-19 Pandemic in Massachusetts, Ruben Vaidya MD

Predictors of successful patent ductus arteriosus closure with acetaminophen in preterm infants, Ruben Vaidya MD, Alex Knee, Yvonne Paris MD, and Rachana Singh MD

Leveraging the Massachusetts perinatal quality collaborative to address the COVID-19 pandemic among diverse populations, Ruben Vaidya MD and Rachana Singh MD

Submissions from 2020 2020

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions, Mary-Alice Abbott MD

Efficacy of Fosphenytoin as First-Line Antiseizure Medication for Neonatal Seizures Compared to Phenobarbital, Veronica Alix MD, Mansi James, Anthony Jackson MD, Paul Visintainer, and Rachana Singh MD

Sustaining the Pediatric Endocrinology Workforce: Recommendations from the Pediatric Endocrine Society Workforce Task Force, Charlotte Boney MD

Estimating the Relevance of Historical Red Flags in the Diagnosis of Abusive Head Trauma, Stephen Boos MD

An audit of oxygen supplementation in a large tertiary hospital - We should treat oxygen as any other drug, Neil Devoe DO, Periklis Kyriazis, Ahmed Eltanbedawi MD, Anisha Contractor DO, Anthony Esposito DO, Muhammad Khan MD, and Mihaela Stefan MD

Venous Thromboembolism in a Transgender Adolescent on Testosterone Therapy: A Case Report and Literature Review, Elaine Fan MD, Chelsea Gordner DO, and Joanna Luty MD

Concordance of Identified Cases of Pediatric HA-VTE with American College of Physicians and Cincinnati Children's Hospital HA-VTE Prophylaxis Guidelines Over a 10-Year Period, Elaine Fan MD, Deirdre Lewis MD, Thomas Presti MD, Nura El-Haj MD, and Weijen Chang MD

In search of the holy grail for growth: a real-time biomarker, Michele Gortakowski MD and Charlotte Boney MD

Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling, Kelsey Kaman MD

Multisystem Inflammatory Syndrome in U.S. Children and Adolescents, Kimberly Marohn MD

Characteristics and Outcomes of Children With Coronavirus Disease 2019 (COVID-19) Infection Admitted to US and Canadian Pediatric Intensive Care Units, Christine McKiernan MD

Unintentional Window Falls in Children and Adolescents, Christine McKiernan MD and Deirdre Lewis MD

Transmitted Home Oximetry and Duration of Home Oxygen in Premature Infants, Kathleen Meyer MD

Defining the role of advanced care practitioners in pediatric surgery practice, Kevin Moriarty MD

Subspecialization in pediatric surgery: Results of a survey to the American Pediatric Surgical Association, Kevin Moriarty MD

Subspecialization in pediatric surgery: Results of a survey to the American Pediatric Surgical Association, Kevin Moriarty MD

Increasing incidence of complicated appendicitis during COVID-19 pandemic, Georgios Orthopoulos MD, Elizabeth Santone MD, Francesca Izzo MD, Michael Tirabassi MD, Aixa Caraballo MD, Nicole Corriveau, and Nicolas Jabbour MD

Engagement in Early Intervention Services Among Mothers in Recovery From Opioid Use Disorders, Elizabeth Peacock-Chambers MD, Molly Senn-McNally MD, Maria Carolina Clark, Briana Jurkowski, and Peter Friedmann MD

We All Need a Little TLC: An Argument for an Increased Role of Child Life Services in Patient Care and Medical Education, Rajapillai Pillai

Infantile presentation of 3q26.33-3q27.2 deletion syndrome, Renee Robilliard DO and Mustafa Caylan MD

Twin-to-twin Transmission of Transient Abnormal Myelopoiesis Without Constitutional Trisomy 21: A Case Report, Alexander Roseman, Shubham Bakshi, Lisa Grady, Mary-Alice Abbott MD, Sajjad Hassan, John Hunt MD, Matthew Richardson MD, and Rachana Singh MD

Neurodevelopmental Outcomes of Neonates Randomized to Morphine or Methadone for Treatment of Neonatal Abstinence Syndrome, Jeffrey Shenberger MD

A quality improvement initiative to implement the eat, sleep, console neonatal opioid withdrawal syndrome care tool in Massachusetts' PNQIN collaborative, Rachana Singh MD

PediTools Electronic Growth Chart Calculators: Applications in Clinical Care, Research, and Quality Improvement, Rachana Singh MD

Racial and Ethnic Disparities in Maternal and Infant Outcomes Among Opioid-Exposed Mother-Infant Dyads in Massachusetts (2017-2019), Rachana Singh MD

Considerations for the outpatient practice in pediatric surgery during the novel SARS-CoV-2Pandemic, Michael Tirabassi MD

Which Mothers Know That All Babies Cry? A Randomized Controlled Trial of a Child Abuse Prevention Program for Low-Income New Mothers, Marcia VanVleet MD

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency, Ricardo Villalba

Submissions from 2019 2019

GAA Variants and Phenotypes Among 1079 Patients with Pompe Disease: Data from the Pompe Registry, Mary-Alice Abbott MD

Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature, Adam Adamidis MD, Anna Tsirka MD, Mary-Alice Abbott MD, Paul Visintainer, and Ksenia Tonyushkina MD

Early signs of microvascular complications in pediatric patients with short duration of type 1 diabetes mellitus seen in southeast Nigeria, Holley Allen MD

Early signs of microvascular complications in pediatric patients with short duration of type 1 diabetes mellitus seen in southeast Nigeria, Holley Allen MD

Society of Hospital Medicine Position on the American Board of Pediatrics Response to the Pediatric Hospital Medicine Petition, Weijen Chang MD

Implementing a Novel Quality Improvement-Based Approach to Data Quality Monitoring and Enhancement in a Multipurpose Clinical Registry, Barry Hirsch MD

Identification of High-Yield Targets for Antimicrobial Stewardship Program Efforts Within a Nonfreestanding Children's Hospital, James Klatte MD, Alex Knee, Frank Szczerba PharmD, Evan Horton, Kathleen Kopcza, and Donna Fisher MD

Caregiver Medication Management and Understanding After Pediatric Hospital Discharge, Christine Marrese

Care coordination for children with medical complexity, Jack Maypole and Matthew Sadof

Why a Pelvic Exam is Needed to Diagnose Cervicitis and Pelvic Inflammatory Disease, Kathleen Mealey MD, Paula Braverman MD, and Laura Koenigs MD

Adolescent vaccinations: updates for the general practitioner, Kathleen Mealey MD and Laura Koenigs MD

Early Intervention Referral and Enrollment Among Infants with Neonatal Abstinence Syndrome, Elizabeth Peacock-Chambers MD, Sheila Foss, Donna M. Wilson, Peter Friedmann MD, Paul Visintainer, and Rachana Singh MD

Successful bilateral thoracoscopic sympathectomy for recurrent ventricular arrhythmia in a pediatric patient with hypertrophic cardiomyopathy, Joshua Price and Anna Tsirka MD

The Challenge of Defining and Investigating the Causes of Idiopathic Short Stature and Finding an Effective Therapy, Edward Reiter MD

A Step-by-Step Guide to Building a Complex Care Coordination Program in a Small Setting, Matthew Sadof

The role of recombinant human CC10 in the prevention of chronic pulmonary insufficiency of prematurity, Jeffrey Shenberger MD

Addressing Disparities in Mother's Milk for VLBW Infants Through Statewide Quality Improvement, Rachana Singh MD

Antecedents of epilepsy and seizures among children born at extremely low gestational age, Rachana Singh MD and Bhavesh Shah MD

Ectopic ACTH Syndrome in a Child With Abdominal Ewing Sarcoma: A Rare Paraneoplastic Phenomenon, Rishita Tiwari MD, Barbara Greco MD, and Matthew Richardson MD

Use of acetaminophen for patent ductus arteriosus treatment: a single center experience, Ruben Vaidya MD, Donna M. Wilson, Yvonne Paris MD, Laura Madore MD, and Rachana Singh MD

Submissions from 2018 2018

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome, Mary-Alice Abbott MD

Nephrolithiasis and Nephrocalcinosis From Topiramate Therapy in Children With Epilepsy, Sarah Barnett MD, Anthony Jackson MD, Beth Rosen MD, Jane Garb, and Gregory Braden M.D.

Things We Do for No Reason - The "48 Hour Rule-out" for Well-Appearing Febrile Infants, Weijen Chang MD

Prevalence of cranial MRI findings in girls with central precocious puberty: a systematic review and meta-analysis, Jane Garb and Holley Allen MD

Implementation and Impact of an Antimicrobial Stewardship Program at a Non-freestanding Children's Hospital, James Klatte MD, Kathleen Kopcza, Alex Knee, Evan Horton, Erica Housman, and Donna Fisher MD

Clinical outcomes following identification of tip appendicitis on ultrasonography and CT scan, Briana Leung MD, Nikhil Madhuripan MD, Katharine Bittner, Vida Rastegar, Gregory Banever MD, David Tashjian MD, Kevin Moriarty MD, Stanley Polansky MD, and Michael Tirabassi MD

Rapidly involuting congenital haemangioma of the liver, Deirdre Lewis MD, Kevin Hachey MD, Shannon Fitzgerald MD, and Ruben Vaidya MD

Hemangioma, Hepatic, Deirdre Lewis MD and Ruben Vaidya MD

Kasabach Merritt Syndrome, Deirdre Lewis MD and Ruben Vaidya MD

The optimization of home oxygen weaning in premature infants trial: Design, rationale, methods, and lessons learned, Kathleen Meyer MD

A Novel Macroscale Acoustic Device for Blood Filtration, Maria Carmen Mora MD, Alexandre Dufresne, Katharine Bittner, Carolanne Lovewell, and Michael Tirabassi MD

Single incision laparoscopic proficiency correlates with residency training level, Maria Carmen Mora MD, Kaitlyn Wong MD, Gladys Fernandez M.D., and Michael Tirabassi MD

A Brief History of Pediatric Exercise Physiology, Thomas Rowland

A Patient-Centered Measure Reduction Strategy: Three Lenses of Value, Matthew Sadof

Accuracy of the Bayley-II mental development index at 2 years as a predictor of cognitive impairment at school age among children born extremely preterm, Bhavesh Shah MD and Rachana Singh MD