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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
By: 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…

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
By: 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…

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
By: 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…

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
By: 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.…

Substantial Variation in Fluid Balance Among Preterm Neonates
 Substantial Variation in Fluid Balance Among Preterm Neonates 1024 575 Lauren Dembeck
By: 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,…

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
By: 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…

Featured Researcher — Linda Baker, MD
 Featured Researcher — Linda Baker, MD 150 150 Natalie Wilson
By: 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…

5 Things to Know About Prune Belly Syndrome
 5 Things to Know About Prune Belly Syndrome 1024 683 Abbie Miller
By: 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)…

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

New Guidelines for Care of Children With Cerebral Palsy
 New Guidelines for Care of Children With Cerebral Palsy 1024 683 Abbie Miller
By: 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…

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
By: 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…

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

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
By: 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…

Featured Researcher — Jonathan Slaughter, MD, MPH
 Featured Researcher — Jonathan Slaughter, MD, MPH 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Jonathan Slaughter, MD, MPH, neonatologist and principal investigator in the Center for Perinatal Research at Nationwide Children’s Hospital, works to identify best practices and reduce treatment variation to improve neonatal clinical care and outcomes. His career took off when, after casually observing practice variation across the institutions where he received training, he noticed that preterm…

Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere?
 Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere? 1024 614 Elizabeth Varga
By: Elizabeth Varga
abstract art of magnifying glass over DNA strand

As part of the Journey to Best Outcomes, Nationwide Children’s Hospital has dedicated significant resources to genomic medicine, named as a key accelerator in the 2017-2021 strategic plan and as one of the three pillars that will be utilized to integrate research and clinical care over the next five years. In response, the Steve and…

Study Identifies Multiple Cell Signaling Pathways for Calcification in Aortic Valve Disease Regulated by Nitric Oxide
 Study Identifies Multiple Cell Signaling Pathways for Calcification in Aortic Valve Disease Regulated by Nitric Oxide 1024 753 Lauren Dembeck
By: Lauren Dembeck

Exploring novel signaling mediators in calcific aortic valve disease may pave the way for the development of pharmacotherapies to treat this intractable condition during early stages of its progression.   Calcific aortic valve disease is a chronic inflammatory condition characterized by progressive fibrosis and calcification of the heart valves, which can cause narrowing of the…

Preventing Pregnancies for Patients on Teratogenic Medications
 Preventing Pregnancies for Patients on Teratogenic Medications 1024 575 Emily Siebenmorgen
By: Emily Siebenmorgen
Teen girl with backpack walking down a sidewalk facing away from the camera

In a recent study from Nationwide Children’s Hospital, researchers increased the time between pregnancies for patients on teratogenic medications from an average of 52 days to over 900 days through quality improvement (QI) and behavioral economics. Teratogenic medications such as methotrexate and mycophenolate are often used to treat rheumatic diseases. They can also result in…

Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis
 Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis 1024 587 Lauren Dembeck
By: Lauren Dembeck

Researchers used a multi-omics approach to gain a deeper understanding of aberrant cellular signaling leading to progression of a rare childhood neurological disease.   Rasmussen encephalitis is a very rare childhood neurological disease characterized by chronic progressive inflammation of one hemisphere of the brain, leading to loss of function, neurodegeneration, and drug-resistant epilepsy. Researchers have…

Low-Resource Screening Tool Demonstrates Superior Predictive Value for Cerebral Palsy in Infants
 Low-Resource Screening Tool Demonstrates Superior Predictive Value for Cerebral Palsy in Infants 1024 683 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

The use of lower-resource screening tools for cerebral palsy in infants can help increase early detection of the condition and promote access to early interventions.   A recent study reported that the Hammersmith Infant Neurological Examination (HINE), when compared with the Test of Infant Motor Performance (TIMP), had the better predictive value for detecting cerebral…

Real-World Urinary Management and Outcomes in Cloacal Exstrophy Among Children and Adults
 Real-World Urinary Management and Outcomes in Cloacal Exstrophy Among Children and Adults 1024 683 Jessica Nye, PhD
By: Jessica Nye, PhD
Molly Fuchs, MD

Most (94%) older children and adults with cloacal exstrophy are managed by incontinent diversion or clean intermittent catheterization. “The published literature about cloacal exstrophy can be misleading, and there is an impression that with surgical bladder reconstruction, normal bladder function and voiding can be restored. That is to say, a child will be able to…

Supplementation With Omega 3-6 Improves a Marker of Inflammation Among Children Newly Diagnosed With Autism Spectrum Disorder
 Supplementation With Omega 3-6 Improves a Marker of Inflammation Among Children Newly Diagnosed With Autism Spectrum Disorder 1024 681 Jessica Nye, PhD
By: Jessica Nye, PhD

Fatty acid supplementation may be a treatment route for addressing some underlying causes of autism spectrum disorder (ASD) among children.   One potential mechanism affecting autism-related behaviors is inflammation. In general, ASD severity has been associated with inflammatory cytokine levels and externalizing behaviors with interleukin (IL)-10 and IL-1β levels. Supplementation may be a treatment route,…

CFTR Modulation Therapy Improves Markers of Inflammation and Lung Function in Cystic Fibrosis
 CFTR Modulation Therapy Improves Markers of Inflammation and Lung Function in Cystic Fibrosis 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD
Illustration of lungs on blue silhouette of upper chest on black background

Six months of elexacaftor-tezacaftor-ivacaftor (ETI) therapy significantly reduced proinflammatory cytokines, increased immune cell composition, and improved clinical outcomes in cystic fibrosis (CF).   “Cystic fibrosis is a progressive lung disease that carries significant morbidity,” says Shahid Sheikh, MD, of the Pulmonary Medicine and Allergy/Immunology section at Nationwide Children’s Hospital and a professor at The Ohio…

Predicting Risk of Nosocomial Infection in Pediatric Burn Patients: Can Measures of Adaptive Immune Function Help?
 Predicting Risk of Nosocomial Infection in Pediatric Burn Patients: Can Measures of Adaptive Immune Function Help? 150 150 Abbie Miller
By: Abbie Miller

Pediatric burn injuries affect 1 million children each year in the United States. While burn care improvements have decreased mortality, infection-related complications remain a significant problem. According to the National Burn Repository, four of the top five complications of pediatric burns are infection related. Plus, infection-related complications occur in up to 60% of patients with…

Intrauterine Devices are a First-Line Option for Adolescents with Bleeding Disorders
 Intrauterine Devices are a First-Line Option for Adolescents with Bleeding Disorders 150 150 Mary Bates, PhD
By: Mary Bates, PhD

Among adolescents with heavy menstrual bleeding, study shows no difference in IUD expulsion rate between adolescents with bleeding disorders and those without. In a new study, researchers from Nationwide Children’s evaluated the use of intrauterine devices (IUDs) in two young women’s hematology clinics. They found that young women with bleeding disorders did not experience a…

Biofilms In Respiratory Infections and Beyond: A Review
 Biofilms In Respiratory Infections and Beyond: A Review 150 150 Emily Siebenmorgen
By: Emily Siebenmorgen

Researchers from Nationwide Children’s recently published a landmark piece in Frontiers in Cellular and Infection Microbiology reviewing everything known about biofilm aggregates and their role in respiratory tract infections to date. Biofilms create sticky situations for several diseases. These microbial communities are formed when bacterial cells stick to each other and attach themselves to a…

Featured Researcher — Motao (Matt) Zhu, MS, MD, PhD
 Featured Researcher — Motao (Matt) Zhu, MS, MD, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Motao (Matt) Zhu, MS, MD, PhD, serves as a principal investigator in the Center for Injury Research and Policy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital. After starting off his epidemiology studies in reproductive health, Dr. Zhu transitioned into injury research and has since become an internationally recognized expert in young driver…

The Impact and Implications of Interferons Against RSV
 The Impact and Implications of Interferons Against RSV 1024 575 Emily Siebenmorgen
By: Emily Siebenmorgen
Illustration of lungs on blue silhouette of upper chest on black background

Specific cytokines play a key role in minimizing disease severity Respiratory syncytial virus (RSV) shares many symptoms with other respiratory viruses like the common cold or the flu, but it represents the number one cause of hospitalization in infants worldwide. Despite being a large burden on the health care system, there are currently few preventative…

Using Hormone Therapy First Drives Earlier Remission From Infantile Epileptic Spasms Syndrome
 Using Hormone Therapy First Drives Earlier Remission From Infantile Epileptic Spasms Syndrome 1024 575 Natalie Wilson
By: Natalie Wilson

Recent research conducted at Nationwide Children’s Hospital demonstrated standardizing hormone therapy as the first treatment for infantile spasms improved rates of early remission. Infantile epileptic spasms syndrome (IESS) is an uncommon epilepsy syndrome characterized by seizures called infantile spasms that begin between 1 and 24 months of age (with a peak age of onset at…

New Nomogram Helps Optimize 3-D Rotational Angiography for Congenital Cardiac Catheterization
 New Nomogram Helps Optimize 3-D Rotational Angiography for Congenital Cardiac Catheterization 1024 775 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Clinician-researchers studied a large number of 3-D rotational angiography (3DRA) cases to identify patient and practice factors that produce the highest quality images. In an effort to aid in the successful application of 3-D rotational angiography (3DRA) in cardiac catheterization labs worldwide, a team of clinicians at Nationwide Children’s Hospital retrospectively reviewed 208 3DRAs to…

Bowel Management Program Improves Urinary Symptoms Associated with Pediatric Functional Constipation
 Bowel Management Program Improves Urinary Symptoms Associated with Pediatric Functional Constipation 150 150 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

A one-week bowel management program can significantly improve urinary symptoms in children with functional constipation, possibly eliminating the need for extensive urologic testing. Molly Fuchs, MD, a urologist at Nationwide Children’s Hospital, and her research team recently demonstrated that a bowel management program (BMP) significantly improved urinary symptoms in children with functional constipation. Functional constipation…

Development of Acute Kidney Injury as a Potential Biomarker of Necrotizing Enterocolitis in Preterm Infants
 Development of Acute Kidney Injury as a Potential Biomarker of Necrotizing Enterocolitis in Preterm Infants 1024 683 Mary Bates, PhD
By: Mary Bates, PhD

Regular measurement of serum creatinine levels could help identify necrotizing enterocolitis sooner. Researchers at Nationwide Children’s neonatal intensive care unit (NICU) evaluated serum creatinine levels and the development of acute kidney injury as a potential biomarker of necrotizing enterocolitis in preterm infants. The retrospective chart review showed that acute kidney injury is more prevalent in…

Study Suggests Survivors of Pediatric Brain Tumors Have Altered Connectivity of Key Brain Regions
 Study Suggests Survivors of Pediatric Brain Tumors Have Altered Connectivity of Key Brain Regions 1024 575 Lauren Dembeck
By: Lauren Dembeck

The findings contribute to a scant body of literature on the changes in functional connection within the brain and neurocognitive outcomes in survivors of pediatric brain tumors. Pediatric brain tumors are the most common solid tumor diagnosis among children in the United States. With advances in treatment, the 5-year survival rate among these children and…

How Can We Ensure Use of Artificial Intelligence in Pediatric Medicine Is Ethical?
 How Can We Ensure Use of Artificial Intelligence in Pediatric Medicine Is Ethical? 915 341 Jessica Nye, PhD
By: Jessica Nye, PhD

Team diversity, data contextual factors, and transparency are key factors for the ethical use of artificial intelligence (AI) in pediatric medicine. AI has been increasingly used in medicine to help clinicians predict patient risk and make treatment decisions. A discussion about the ethical translation of AI into pediatric medicine was published as a comment in…

Featured Researcher — Brenda Lilly, PhD
 Featured Researcher — Brenda Lilly, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Brenda Lilly, PhD, a principal investigator in the Center for Cardiovascular Research at Nationwide Children’s Hospital, examines the interactions between endothelial cells, which line the inside of blood vessels, and smooth muscle cells. Blood vessels play a critical role in a wide variety of diseases. As a basic biologist, Dr. Lilly studies the mechanisms involved…

Do Warning Labels on High-Powered Magnets Prevent Child Injury?
 Do Warning Labels on High-Powered Magnets Prevent Child Injury? 1024 521 Laura Dattner
By: Laura Dattner
cube made of ball magnets in the palm of a hand

A recent study suggests parents often don’t notice or read warning labels on high powered magnets. They also perceive these products as children’s toys, despite FDA rules against marketing them to children under age 14 years. High-powered magnet products are made of rare-earth metals, usually neodymium, that is up to 30 times more powerful than…

Examining Pediatric Injury-Related Emergency Department Vistis During the COVID-19 Pandemic
 Examining Pediatric Injury-Related Emergency Department Vistis During the COVID-19 Pandemic 480 320 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM
Emergency Department sign outside the hospital

During the first year of the COVID-19 pandemic, the frequency of pediatric injury-related visits to the emergency department decreased, while injury severity increased. The COVID-19 pandemic caused disruptions not only on a global scale but also for individuals, particularly children. Pandemic-related closures of school and extracurricular activities significantly impacted the daily routines of children and…

Significant Weight Gain Observed in Low-Income Youth During the Early COVID-19 Pandemic
 Significant Weight Gain Observed in Low-Income Youth During the Early COVID-19 Pandemic 150 150 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

Low-income youth experienced significant weight gain during the first six months of the COVID-19 pandemic, highlighting the need for simultaneous childhood obesity prevention and treatment.   The COVID-19 pandemic and subsequent mitigation efforts profoundly affected children. Specifically, remote learning and cancellation of extracurricular activities disrupted children’s daily routines and reduced opportunities for physical activity, increasing…

InSight: Total Pancreatectomy With Islet Autotranplantation: The Basics
 InSight: Total Pancreatectomy With Islet Autotranplantation: The Basics 1024 500 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES
illustrated cross section of islets from pancreas

Download a PDF version of this image.       This feature was published in the Fall/Winter 2022 print issue. Download the full issue.  Image credit: Mandy Root-Thompson for Nationwide Children’s

TPIAT: A Way Forward for Chronic Pancreatitis
 TPIAT: A Way Forward for Chronic Pancreatitis 1024 500 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES
illustrated cross section of islets from pancreas

Nationwide Children’s Hospital has assembled a veritable “dream team” of pancreatitis and pediatric transplant surgery experts to offer what they hope will become the world’s preeminent pediatric center for complex pancreatic care. Imagine your child suffering from a sudden, debilitating episode of abdominal pain. No obvious cause, no cure, just pain so severe it requires…

How One Family In Appalachia Changed the Medical Field’s Understanding of Pancreatitis
 How One Family In Appalachia Changed the Medical Field’s Understanding of Pancreatitis 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

More than 30 years ago, a teenager from Kentucky named Kevin Slone had his first attack of acute pancreatitis. Doctors at the Cleveland Clinic urged his father, Bobby Slone, to try to document whether other people in the family had similar stomach problems. Bobby Slone took the homework to heart, documenting incidences of similar symptoms…

Understanding Pediatric Critical COVID-19 Disease Around the World
 Understanding Pediatric Critical COVID-19 Disease Around the World 150 150 Natalie Wilson
By: Natalie Wilson

A large, multinational study found more children hospitalized with critical COVID-19 died than was indicated by previous studies.   Children under 18 represent around 22% of the population in the United States. Yet, just 15% of over 75 million U.S. COVID-19 cases reported to the Centers for Disease Control (CDC) and fewer than 0.2% of over…

Multimodal Molecular Profiles Offer Clinically Valuable Information to Oncologists
 Multimodal Molecular Profiles Offer Clinically Valuable Information to Oncologists 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Expanding the profiling ordered for central nervous system (CNS) tumors may meaningfully impact diagnosis and treatment. Prajwal Rajappa, MD, MS, a physician-scientist and principal investigator for the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital, has long advocated for a more robust use of precision medicine approaches to improve clinicians’…

Ewing Sarcoma Transcription Factor Mediates Changes in Transcription by Reprogramming Chromatin Structure
 Ewing Sarcoma Transcription Factor Mediates Changes in Transcription by Reprogramming Chromatin Structure 1024 575 Abbie Miller
By: Abbie Miller
yellow squiggly lines representing chromatin strands in the nucleus

By binding to DNA in the nucleus, the Ewing sarcoma-specific transcription factor EWS/FLI changes chromatin organization, leading to altered gene expression and the development of Ewing sarcoma.   A new report, published in Nucleic Acids Research, focuses on how the Ewing sarcoma-specific transcription factor EWS/FLI changes spatial organization of DNA in the nucleus of Ewing…

Breast Surgery in Adolescents: When Should You Consider It?
 Breast Surgery in Adolescents: When Should You Consider It? 150 150 Ibrahim Khansa, MD
By: Ibrahim Khansa, MD

Research shows that addressing macromastia, breast asymmetry and gynecomastia in adolescence can improve physical symptoms as well as quality of life and mental wellbeing. Breast disorders such as macromastia, breast asymmetry and gynecomastia are in adolescents.2 Those conditions can negatively impair quality-of-life, and their surgical treatment has been shown to improve self-esteem, as well as…

Brain Organoids Provide Novel Mechanistic Insight into Microcephaly Associated with AUTS2 Syndrome
 Brain Organoids Provide Novel Mechanistic Insight into Microcephaly Associated with AUTS2 Syndrome 873 552 Lauren Dembeck
By: Lauren Dembeck
Microscopy image of cerebral organoid sections

Researchers have functionally validated a genotype-phenotype relationship between a variant in the AUTS2 gene and neurodevelopmental deficits in AUTS2 syndrome using patient-derived brain organoids. Genetic variants in more than 100 genes, including the gene AUTS2, have been associated with autism spectrum disorders. However, the model systems used to study the mechanisms underlying how these genetic…

Predicting Response to Bronchodilators in Infants with Bronchopulmonary Dysplasia
 Predicting Response to Bronchodilators in Infants with Bronchopulmonary Dysplasia 1024 683 Mary Bates, PhD
By: Mary Bates, PhD

Study emphasizes importance of identifying those patients who will respond to treatment. Certain pulmonary function test parameters in newborns with bronchopulmonary dysplasia are associated with bronchodilator response, according to a new study from researchers at Nationwide Children’s Hospital. The team also found that responders had evidence of greater dysanaptic lung growth than nonresponders. Bronchodilators are…

Study Shows 1 in 4 Girls Born With Anorectal Malformations Have Co-occurring Gynecologic Anomalies
 Study Shows 1 in 4 Girls Born With Anorectal Malformations Have Co-occurring Gynecologic Anomalies 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD

Gynecological anomalies are common among girls with anorectal malformations (ARM) with or without associated vertebral, anorectal, cardiovascular, trachea-esophageal, renal and limb (VACTERL) anomalies. One in 5,000 live births have ARM and 20%-70% co-occur with other congenital anomalies, including VACTERL. For girls born with ARM, gynecologic congenital anomalies can occur, especially with more complex ARM. To…

Discovering the Genetic Causes of Congenital Heart Defects
 Discovering the Genetic Causes of Congenital Heart Defects 1024 575 Lauren Dembeck
By: Lauren Dembeck

By studying the genomes of children and members of their family, researchers have discovered novel disease genes in families impacted by cardiac defects. Congenital heart disease is a leading cause of death in children under one year of age, and evidence supports a strong genetic component underlying this group of common developmental defects. However, historically,…

Quality of Life in Pediatric Patients With Non-ambulatory Cerebral Palsy and Epilepsy
 Quality of Life in Pediatric Patients With Non-ambulatory Cerebral Palsy and Epilepsy 600 400 Mary Bates, PhD
By: Mary Bates, PhD

Study indicates that quality of life in young people with non-ambulatory cerebral palsy decreases with the use of more antiseizure medications. In a new study, researchers from Nationwide Children’s Hospital assessed the relationship between epilepsy-specific characteristics and proxy-reported health-related quality of life in children and young people with non-ambulatory cerebral palsy. The findings indicate that…

The Latest Developments in Limb Lengthening and Reconstruction Research
 The Latest Developments in Limb Lengthening and Reconstruction Research 1024 683 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES
Dr. Iobst with patient

Orthopedic experts publish an invited review of the past year’s most significant papers in the field of limb deformity correction and lengthening. To aid clinicians and surgeons who don’t have time for an annual deep-dive into the literature of their subspecialty, The Journal of Bone & Joint Surgery publishes yearly reviews courtesy of invited guest…