Research

Targeted Muscle Reinnervation Prevents Neuroma and Phantom Limb Pain in Children After Amputation
Targeted Muscle Reinnervation Prevents Neuroma and Phantom Limb Pain in Children After Amputation 1024 684 Lauren Dembeck

In certain cases, such as limb traumas and sarcomas, amputation may be chosen to optimize patients’ physical function. Persistent postamputation residual limb or “stump” pain and phantom limb pain can be debilitating and has been associated with prosthetic abandonment in patients who have undergone amputation. This pain is often secondary to symptomatic neuromas, tumor-like disorganized…

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Is Growth Hormone Replacement Safe Following Central Nervous System Tumors?
Is Growth Hormone Replacement Safe Following Central Nervous System Tumors? 1024 683 Mary Bates, PhD

Research suggests the benefits of growth hormone therapy outweigh the risks for pediatric cancer survivors. In a new review paper, researchers from Nationwide Children’s Hospital evaluated the risks and benefits associated with administering growth hormone to pediatric patients after diagnosis of a central nervous system tumor. The authors conclude that the therapy has many important…

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Does Etiology Impact Outcomes After Hemispherectomy?
Does Etiology Impact Outcomes After Hemispherectomy? 1024 575 Jessica Nye, PhD

Patients with cerebral palsy (CP) who have comorbid medically intractable epilepsy (MIE) had similar quantitative functional and seizure outcomes following functional hemispherotomy (FH) or anatomic hemispherectomy (AH), regardless of vascular or dysplastic MIE etiologies.   Early onset seizures are a common comorbidity in CP, affecting between 30% and 50% of patients. Among the patients with…

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An Alternative Method for Diagnosing Central Adrenal Insufficiency in Newborns
An Alternative Method for Diagnosing Central Adrenal Insufficiency in Newborns 1024 683 Mary Bates, PhD
Baby in NICU

Researchers evaluate the utility of random cortisol levels to diagnose adrenal insufficiency. In infants with central adrenal insufficiency, adrenocorticotropic hormone (ACTH) fails to signal to the adrenal gland, leading to decreased cortisol levels. It is a potentially life-threatening condition requiring urgent diagnosis and treatment. Diagnosing central adrenal insufficiency typically involves a low-dose synthetic ACTH (cosyntropin)…

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Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable
Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable 1024 575 Jessica Nye, PhD
conceptual art of DNA

The structural genomic complexity that characterizes most osteosarcoma tumors in children was not evidence of an unstable genome and a driver of cell-to-cell variations in gene expression within each tumor. “We’ve been trying to understand how tumor cells change as they become resistant to therapy or as they metastasize and spread to different parts of…

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Kidney Support for Babies: Building a Comprehensive and Integrated Neonatal Kidney Support Therapy Program
Kidney Support for Babies: Building a Comprehensive and Integrated Neonatal Kidney Support Therapy Program 1024 575 Lauren Dembeck
Nurse caring for infant in Neonatal Intensive Care Unit (NICU)

Kidney support therapy (KST), commonly referred to as dialysis, is a life-saving procedure used to manage complications associated with acute kidney injury and kidney failure, such as fluid overload and electrolyte imbalances, or to remove toxins, such as those in patients with inborn errors of metabolism. Most KST or dialysis machines are designed for adults…

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Evaluating Chronic Constipation and Abnormal Colonic Motility in Children With Autism Spectrum Disorder
Evaluating Chronic Constipation and Abnormal Colonic Motility in Children With Autism Spectrum Disorder 1024 680 JoAnna Pendergrass, DVM
Close up color photo of little boy holding hands on his belly

In children with chronic constipation, rates of abnormal colonic motility are similar between children with and without autism spectrum disorder (ASD). For children with ASD, symptom duration and soiling due to fecal retention are risk factors for abnormal colonic motility.   Treating constipation in children with autism spectrum disorder (ASD) is challenging because of feeding…

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1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients
1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients 1024 614 Abbie Miller
abstract art of magnifying glass over DNA strand

Data from the analysis helps clinicians confirm diagnoses and identify targeted treatments. The data also support new pediatric cancer research through the National Cancer Institute’s Childhood Cancer Data Initiative.   The CCDI Molecular Characterization Initiative (MCI) is a project that aims to collect, analyze and report clinical and molecular data and is currently supporting Children’s…

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Tissue Engineering and Fetal Medicine: A New Frontier for Congenital Heart Disease
Tissue Engineering and Fetal Medicine: A New Frontier for Congenital Heart Disease 1024 575 Abbie Miller
Fetus in utero receiving valvuloplasty

Procedures that utilize cardiac catheterization to improve fetal heart development are often successful, but they are not without risk. And even if they can successfully prevent the development of single ventricle disease, there is always ongoing heart valve disease (HVD). HVD may not be as life-threatening as single ventricle disease, but it requires lifelong care.…

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Susceptibility to and Use of E-cigarettes and Marijuana Is Common Among Adolescents With Congenital Heart Disease
Susceptibility to and Use of E-cigarettes and Marijuana Is Common Among Adolescents With Congenital Heart Disease 1024 575 Lauren Dembeck

Adolescents with congenital heart disease (CHD) are subject to disease-related stressors, such as attending medical appointments and undergoing medical procedures. They have elevated risk for cardiovascular and cognitive complications, which may be exacerbated by the use of e-cigarettes and marijuana. To inform prevention strategies for their long-term wellbeing, it is critical to understand patterns of…

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Investigating Caregiver Disclosure of Pediatric Urologic Surgery
Investigating Caregiver Disclosure of Pediatric Urologic Surgery 1024 575 Mary Bates, PhD
Toddler playing with toys

A survey reveals most caregivers plan to disclose urologic surgery to their child but would like more guidance from providers. Some pediatric urologic surgeries are performed early in childhood and with short-term follow-up. When children have surgery before the age of memory formation, it is up to their caregiver to disclose this surgery to them.…

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Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder
Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder 150 150 Mary Bates, PhD

First report of DBS for management of tremor in a treatment-resistant AIFM1-related disorder.   In a new case series, researchers from Nationwide Children’s report using deep brain stimulation (DBS) to help manage tremor due to a genetic movement disorder in two brothers. The report, published in the journal Pediatric Neurology, suggests DBS may be useful…

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Social Needs Associated with Postpartum Depression
Social Needs Associated with Postpartum Depression 1024 683 Mary Bates, PhD

Screening for social needs at pediatric well-checks may help identify vulnerable mothers. In a new study, researchers from Nationwide Children’s found a significant relationship between self-reported social needs and postpartum depression symptoms of mothers screened in pediatric primary care clinics. The findings suggest that social needs could be targeted concurrently in future interventions addressing postpartum…

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Comprehensive Care Model and Integrated Sickle Cell Disease-Pulmonary Clinic Improves Access and Outcomes
Comprehensive Care Model and Integrated Sickle Cell Disease-Pulmonary Clinic Improves Access and Outcomes 1024 683 Jessica Nye, PhD

A comprehensive care model which incorporates pulmonology services in the sickle cell disease (SCD) clinic aims to reduce access barriers and improve outcomes.   “Our sickle cell clinic at Nationwide Children’s Hospital used to see patients just for their comprehensive [sickle cell] care. One of the biggest morbidities and causes for mortality in patients with…

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Featured Researcher — Meisam Naeimi Kararoudi, DVM, PhD
Featured Researcher — Meisam Naeimi Kararoudi, DVM, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES

Meisam Naeimi Kararoudi, DVM, PhD, director of the CRISPR/Gene Editing Core and principal investigator in the Center for Childhood Cancer Research at Nationwide Children’s, has taken a winding, international road to his current role at Nationwide Children’s Hospital. From his native Iran to Italy, England, Sweden and the United States, Dr. Naeimi Kararoudi has collected…

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Shorter Course of Antibiotics for Early Onset Sepsis as Safe as Longer Course
Shorter Course of Antibiotics for Early Onset Sepsis as Safe as Longer Course 150 150 Jessica Nye, PhD

Discontinuing empirical antibiotic therapy for early-onset sepsis (EOS) at 24 hours had a similar safety profile as the standard 48-hour treatment course. “In the neonatal intensive care unit (NICU), we have data to show that each additional day of unnecessary antibiotics leads to adverse side effects, both short term while in the NICU and some…

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More Than a Building: Why Our Expanded Research Facilities Matter for Kids Everywhere
More Than a Building: Why Our Expanded Research Facilities Matter for Kids Everywhere 1024 624 Dennis Durbin, MD, MSCE

At Nationwide Children’s Hospital, we proudly acknowledge the significant role research has in improving patient care and overall child heath. The integration of research and clinical care is at the heart of the hospital’s strategic plan — a $3.3 billion investment over the next several years in our commitment to transform health outcomes for all…

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How Language-Processing Technology Could Transform Medical Practice, Research and Patient Participation
How Language-Processing Technology Could Transform Medical Practice, Research and Patient Participation 150 150 Katie Brind'Amour, PhD, MS, CHES

Recent revolutions in researchers’ ability to process natural language sources, such as clinic visit notes, transcripts or medical diaries, could dramatically expand opportunities to improve health care and prevention health outreach.   Natural Language Processing (NLP) is a subfield of computer science and artificial intelligence that deals with the interaction between computers and human language.…

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Advancing Genomics-Driven Precision Medicine in the NICU
Advancing Genomics-Driven Precision Medicine in the NICU 1024 683 Natalie Wilson

According to the Children’s Hospitals Neonatal Consortium, as many as half of newborns hospitalized in level IV neonatal intensive care units (NICUs) due to critical illness have an underlying genetic condition. Most don’t get their diagnosis for months or even years. However, clinical assays, new testing modalities and clinical trials are improving their care. Advanced…

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Beyond the Wow Factor: Artificial Intelligence in Pediatrics
Beyond the Wow Factor: Artificial Intelligence in Pediatrics 1024 576 Katie Brind'Amour, PhD, MS, CHES

What promise do AI and machine learning hold for pediatrics, and how can their potential flourish while still safeguarding children’s health and privacy? Machine learning (ML) and artificial intelligence (AI) have exploded across the worlds of marketing and commerce in recent years. Streaming services track what you watch and suggest other content you may enjoy.…

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Going Viral: The AAV Approach to Curing Cancer
Going Viral: The AAV Approach to Curing Cancer 1024 256 Emily Siebenmorgen

According to Timothy Cripe, MD, PhD, chief of the Division of Hematology and Oncology at Nationwide Children’s Hospital, it’s an incredible time to be working on cancer treatment – and now, targeted cancer prevention. “There’s so much going on in the cancer world these days,” says Dr. Cripe, who is also a principal investigator in…

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Placing Value on a Pediatric Surgeon’s Academic Work
Placing Value on a Pediatric Surgeon’s Academic Work 1024 683 Mary Bates, PhD

The addition of an academic RVU system to an existing work RVU-based incentivization plan boosted academic productivity in the Department of Pediatric Surgery at Nationwide Children’s Hospital. At many institutions, physicians and surgeons are compensated using a productivity formula based on work relative value units (wRVUs). wRVUs commonly quantify clinical work, practice expenses and professional…

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Role of Myeoloid-Derived Suppressor Cells in Septic Shock Immunoparalysis
Role of Myeoloid-Derived Suppressor Cells in Septic Shock Immunoparalysis 1024 683 Mary Bates, PhD

New study is the first to describe increased myeloid-derived suppressors cells in children with septic shock. In children with septic shock, the immune system initiates a systemic inflammatory response and a nearly concurrent compensatory anti-inflammatory response. When severe, this anti-inflammatory response is termed “immunoparalysis” and is associated with increased risk of infections and death. Researchers…

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Micro-dystrophin: A Small Gene With Big Promise
Micro-dystrophin: A Small Gene With Big Promise 1024 632 Abbie Miller

SRP-9001 for Duchenne muscular dystrophy supplies a functional dystrophin gene via AAVrh74 gene therapy. In 1969, Jerry Mendell, MD, was working at the National Institute of Neurological Disorders and Stroke (NINDS) when he saw his first patient with Duchenne muscular dystrophy (DMD). DMD, a severe form of muscular dystrophy caused by a mutation in the…

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Implementation of a COVID-19 Monoclonal Antibody Program
Implementation of a COVID-19 Monoclonal Antibody Program 150 150 Lauren Dembeck

Researchers provide guidance on risk stratification and offer subspecialists and community practitioners a streamlined approach to treating patients at greater risk for severe COVID-19. The COVID-19 pandemic necessitated the development of therapeutic approaches to combat the SAR-CoV-2 virus. In late 2020, monoclonal antibody therapies were among the first COVID-19 therapeutics to receive emergency use authorization…

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Preterm Birth Increases Health Vulnerabilities of Babies With Down Syndrome
Preterm Birth Increases Health Vulnerabilities of Babies With Down Syndrome 1024 624 JoAnna Pendergrass, DVM

Babies with Down syndrome who are born preterm have higher prenatal morbidity and mortality rates than those in babies with Down syndrome born at term, suggesting pediatricians can lower their risk threshold for certain screenings or interventions. Compared with age-matched neonates without Down syndrome, babies with Down syndrome are more likely to experience developmental delay,…

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Intraoperative Evaluation of Penile Blood Flow During Bladder Exstrophy
Intraoperative Evaluation of Penile Blood Flow During Bladder Exstrophy 150 150 Mary Bates, PhD

Laser angiography technology allows for real-time measurements of penile perfusion during exstrophy repair operations. In a new pilot study, researchers from the Pediatric Urology Midwest Alliance (PUMA) demonstrated that intraoperative laser angiography is a safe and easy method to evaluate penile perfusion during bladder exstrophy closure. The optimal technique for repair of bladder exstrophy in…

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Using Machine Learning in the Electronic Medical Record to Save Lives
Using Machine Learning in the Electronic Medical Record to Save Lives 1024 683 Abbie Miller
physicians in white coats looking at a tablet

The deterioration risk index identifies patients at risk for deterioration and poor outcomes, triggering the care team to act before a crisis happens. In a report published in Pediatric Critical Care Medicine, a team from Nationwide Children’s Hospital describes a machine learning tool for timely identification of hospitalized children at risk for deterioration – a…

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High-Risk Genotype Impacts Kidney Disease Trajectory
High-Risk Genotype Impacts Kidney Disease Trajectory 1024 575 Mary Bates, PhD
conceptual art of DNA

Patients with focal segmental glomerulosclerosis that possess two variations in the APOL1 gene experience more rapid progression of kidney disease. In a new study, researchers from Nationwide Children’s and other institutions quantified the relationship between a high-risk genotype and kidney disease progression in patients with focal segmental glomerulosclerosis (FSGS). The researchers leveraged data from the…

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Youth Suicide and Attempted Suicide Reported to Poison Control Centers Increased During the COVID-19 Pandemic
Youth Suicide and Attempted Suicide Reported to Poison Control Centers Increased During the COVID-19 Pandemic 150 150 Laura Dattner

A recent study evaluated trends of suspected suicides and suicide attempts among children 6-19 years old reported to United States poison centers. A recent study published in Journal of Medical Toxicology from the Center for Injury Research and Policy and Central Ohio Poison Center at Nationwide Children’s Hospital found that the annual number of cases…

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Reducing Opioid Prescriptions for Common Pediatric Urologic Procedures
Reducing Opioid Prescriptions for Common Pediatric Urologic Procedures 1024 682 JoAnna Pendergrass, DVM
smiling baby being held up by an adult

To address the national opioid epidemic, clinician-scientists developed a quality improvement initiative to achieve significant, long-term reductions in opioid prescriptions after common pediatric urologic procedures.   Opioids are commonly prescribed for pediatric urologic procedures. However, studies have reported a troubling practice of overprescribing opioids in pediatric health, contributing to the ongoing opioid epidemic. “There is…

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Multidisciplinary Treatment for Is Effective for Patients With Rumination Syndrome
Multidisciplinary Treatment for Is Effective for Patients With Rumination Syndrome 150 150 Jessica Nye, PhD

Tiered, multidisciplinary behavioral treatment is effective at improving symptoms of rumination syndrome (RS) among children and adolescents, even in the outpatient setting.   Children with RS present with repeated, effortless regurgitation of undigested food. Although limited data about treatment are available, previous studies have indicated that inpatient treatment can improve outcomes among pediatric patients with…

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Featured Researcher — Eric Nelson, PhD
Featured Researcher — Eric Nelson, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES

Eric Nelson, PhD, is a principal investigator in the Center for Biobehavioral Health in the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital. His work centers around how the brain develops, particularly during adolescence, as well as how it changes (or doesn’t) during periods of mental health symptoms, crises or therapeutic interventions. He collaborates…

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Pediatric Obesity Can Be Treated Safely and Effectively
Pediatric Obesity Can Be Treated Safely and Effectively 1024 575 Abbie Miller

New guidelines from the American Academy of Pediatrics emphasize evidence for safe, effective treatment of pediatric obesity for long-term benefit of children and adolescents.   More than 14.4 million U.S. children and adolescents have obesity, making it one of the most common chronic conditions facing American youth and families. Obesity is a chronic disease associated…

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Addressing the Clinical Challenges of Caring for Children with Cystic Fibrosis and Autism Spectrum Disorder
Addressing the Clinical Challenges of Caring for Children with Cystic Fibrosis and Autism Spectrum Disorder 150 150 JoAnna Pendergrass, DVM

A recent study sheds light on the unique clinical challenges faced by children with cystic fibrosis and autism spectrum disorder and offers potential solutions to these challenges.   Cystic fibrosis (CF) and autism spectrum disorder (ASD) pose significant clinical and emotional burdens to patients and their families. A concurrent CF-ASD diagnosis presents even greater challenges, but…

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Proteins as Antibiotic Alternatives for Urinary Tract Infections
Proteins as Antibiotic Alternatives for Urinary Tract Infections 1024 682 Emily Siebenmorgen

Antibiotic-resistant bacteria have made treating common infections challenging. In a new study from Nationwide Children’s Hospital, researchers demonstrate a way to boost the body’s production of antimicrobial peptides, which may provide an alternative to antibiotic use. With the rise of in antibiotic resistant infections, finding treatment alternatives is more important than ever – especially for…

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Cancer-Causing Gene and Treatment Target for Ultra-Rare Rhabdomyosarcoma Confirmed Via Multiple Models
Cancer-Causing Gene and Treatment Target for Ultra-Rare Rhabdomyosarcoma Confirmed Via Multiple Models 1024 764 Katie Brind'Amour, PhD, MS, CHES

An international team has validated a cancer-causing gene fusion — and therapeutic targets — for an unusual presentation of muscle cancer in infants. In 2016, researchers first identified a novel gene mutation and fusion in rare cases of infants with rhabdomyosarcoma, a type of skeletal muscle-like cancer, normally only seen in school-age children and teenagers.…

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Re-evaluating GI Medication Regimens in People With Cystic Fibrosis
Re-evaluating GI Medication Regimens in People With Cystic Fibrosis 1024 681 Emily Siebenmorgen

After widespread adoption of highly effective modulator therapy (HEMT), a new study evaluated the GI medication regimens of people with cystic fibrosis (CF). The study, published in Pediatric Pulmonolgy, found patient-initiated decreases in dosing and withdrawal from common GI medications is already occurring, yet there is no evidence to support this practice. Highly effective modulator…

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Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS)
Understanding the Cellular Mechanisms to Drive New Therapies for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) 1024 577 Jessica Nye, PhD

Derived cells from patients with NEDAMSS exhibit perturbed cellular respiration and poor neuronal survival, both of which can be improved with CuATSM treatment. NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) is a rare neurological disorder discovered in 2018 with only 25 formally diagnosed patients worldwide. It is primarily caused by…

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Youth Suicide Rates in the U.S. Increased During the COVID-19 Pandemic, Especially Among Particular Subgroups
Youth Suicide Rates in the U.S. Increased During the COVID-19 Pandemic, Especially Among Particular Subgroups 1024 691 Jessica Nye, PhD
teen boy with back to camera reading a book

In the United States, youth suicides increased during COVID-19, with significantly more suicides than expected among males, non-Hispanic American Indian/Alaskan Native and Black youth.   Suicide is the second leading cause of death for individuals aged 5-24 years in the United States, and a significant public health concern. Data suggest depression, anxiety and social isolation…

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Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy
Proof-of-Concept Study Shows Promise of Exon-Skipping Gene Therapy Approach in Duchenne Muscular Dystrophy 1024 575 Lauren Dembeck

Duchenne muscular dystrophy (DMD) is a devastating progressive muscle-wasting disease that leads to loss of motor and cardiorespiratory function. The disease is caused by mutations in the DMD gene that result in the loss of expression of the dystrophin protein, which plays a critical role during contraction and relaxation of muscle. To date, the U.S.…

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Substantial Variation in Fluid Balance Among Preterm Neonates
Substantial Variation in Fluid Balance Among Preterm Neonates 1024 575 Lauren Dembeck
Nurse caring for infant in Neonatal Intensive Care Unit (NICU)

In neonates, approximately 75 to 90% of the body weight consists of body fluid. The amount varies with gestational age, with higher total body fluid percentages in extremely preterm infants, those born at 22 to 28 weeks of gestation. These extremely preterm infants have immature skin and kidneys and thus immature fluid homeostasis regulatory mechanisms,…

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Quality Improvement in Primary Care Improves Dental Utilization and Oral Health Outcomes in Children
Quality Improvement in Primary Care Improves Dental Utilization and Oral Health Outcomes in Children 1024 680 JoAnna Pendergrass, DVM
toddler brushing teeth

Quality improvement provides an effective, standardized approach to increasing pediatric dental utilization and improving oral health outcomes in primary care settings. According to a recent study by pediatric dentist David Danesh, DMD, MPH, MS, and his research team at Nationwide Children’s Hospital, children receiving fluoride varnish at medical practices with an oral health quality improvement…

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Featured Researcher — Linda Baker, MD
Featured Researcher — Linda Baker, MD 150 150 Natalie Wilson

Linda Baker, MD, a renowned expert in prune belly syndrome (PBS), joined Nationwide Children’s as a research director and principal investigator in the Kidney and Urinary Tract Center and The Ohio State University as a clinical professor of Urology at the end of 2022. Dr. Baker has met, evaluated and cared for over 180 children…

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5 Things to Know About Prune Belly Syndrome
5 Things to Know About Prune Belly Syndrome 1024 683 Abbie Miller
Linda Baker, MD

Linda Baker, MD, urologist, principal investigator, and one of the world’s foremost experts on prune belly syndrome, recently joined Nationwide Children’s Hospital as the co-director of the Kidney and Urinary Tract Center. She shares some important things to know about this rare disease. 1. Prune belly is a rare, congenital malformation. Prune belly syndrome (PBS)…

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Myopericarditis After COVID-19 Vaccination
Myopericarditis After COVID-19 Vaccination 1024 683 Katie Brind'Amour, PhD, MS, CHES

A meta-analysis of international studies offers more detailed insight into the severity and outcomes of vaccine-related myopericarditis in the adolescent and young adult population. Concerns over myopericarditis and other cardiovascular complications in teens and young adults have gained considerable media attention. While myopericarditis-related data have been well characterized in adults with and without vaccination, the…

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New Guidelines for Care of Children With Cerebral Palsy
New Guidelines for Care of Children With Cerebral Palsy 1024 683 Abbie Miller
Young child with Cerebral Palsy

Guidelines from the American Academy of Pediatrics and the American Academy for Cerebral Palsy and Developmental Medicine highlight advances in diagnosis, care and outcomes for children and adolescents with cerebral palsy. In late 2022, the American Academy of Pediatrics and the American Academy for Cerebral Palsy and Developmental Medicine released new guidelines to help primary…

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Virtual Support for Educating Parents of Newborns with Sickle Cell Trait
Virtual Support for Educating Parents of Newborns with Sickle Cell Trait 1024 681 Mary Bates, PhD
Black couple with newborn

A supplementary videoconferencing program engages parents and reduces worry about sickle cell trait status. Nearly 3 million people in the U.S. have sickle cell trait (SCT), in which they inherit one sickle cell gene and one normal gene. Individuals with SCT are usually asymptomatic; however, two parents with SCT have a 25% chance of having…

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Fertility-Related Care for Girls With Turner Syndrome
Fertility-Related Care for Girls With Turner Syndrome 150 150 Mary Bates, PhD

Recent survey of providers shows fertility counseling and referrals are delivered inconsistently in this population. Researchers from Nationwide Children’s recently assessed practices surrounding fertility-related care among clinical providers who treat girls with Turner syndrome. They found that fertility counseling and referral rates remain inconsistent and identified common barriers to fertility care in this population. Turner…

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New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects
New Insights into the Role of the NOTCH1 Gene in Congenital Heart Defects 150 150 Mary Bates, PhD

Experiments in human cells identify how mutations in the NOTCH1 gene impact cardiac cell differentiation and proliferation. A new study published in Circulation Research provides novel insights into how mutations in the NOTCH1 gene may lead to abnormal differentiation and proliferation of cardiomyocytes and contribute to ventricular hypoplasia and other structural anomalies found in congenital…

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