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Abbie Roth

New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene
 New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene 1024 575 Abbie Roth
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A novel missense mutation in identical twins leads to discovery and definition of new inherited disorder of brain copper metabolism. Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper metabolism were well established. Both are rare. Wilson’s…

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Predicting Disease Severity and Assessing Long-Term Outcomes of Pediatric La Crosse Virus
 Predicting Disease Severity and Assessing Long-Term Outcomes of Pediatric La Crosse Virus 1024 683 Abbie Roth
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Limited data exist on mosquito-borne La Crosse Virus in children, underscoring the importance of determining which patients are at risk for severe disease and long-term neurobehavioral difficulties.   La Crosse Virus (LACV) is a neuroinvasive arbovirus spread by the Aedes triseriatus mosquito, causing symptoms such as vomiting, seizures and altered mental status (AMS). Within the…

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Cardiopulmonary Rehabilitation Post-COVID: Could Your Patient Benefit?
 Cardiopulmonary Rehabilitation Post-COVID: Could Your Patient Benefit? 1024 728 Abbie Roth
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The road to recovery from COVID-19, the disease caused by SARS-CoV-2, is not always smooth, short or straight. For adults and children, long COVID, a condition where symptoms such as fatigue, headache and decreased respiratory function persist after the virus has “cleared” the body, can add increased stress and hardship. Additionally, even mild cases of…

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BRUE: What Is It? How Is It Treated?
 BRUE: What Is It? How Is It Treated? 1024 575 Abbie Roth
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BRUE –brief resolved unexplained event – whether you pronounce it brew-EE or brOO, it might be a term you haven’t run across since medical school. In a recent resident-led episode of PediaCast CME, Meghan Fennell, MD, and Vanessa Thiel, MD, break down everything you need to know about BRUE. Listen to the PediaCast CME Episode…

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The True History of the Nuremberg Code: Leo Alexander’s Blueprint Uncovered
 The True History of the Nuremberg Code: Leo Alexander’s Blueprint Uncovered 150 150 Abbie Roth
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An investigation of Duke University’s Medical Center’s Archives boxes labeled “Alexander’s Papers” reveals a document containing six principles, which were included nearly word-for-word in the Nuremberg Code.  At the end of the famous Doctors’ Trial, the trial of Nazi doctors for their crimes and treatment of people who were identified as “research participants,” Judge Sebring…

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When Functional Outcomes Are Achieved Post-Op, Do Patients and Families Care About Scarring?
 When Functional Outcomes Are Achieved Post-Op, Do Patients and Families Care About Scarring? 1024 683 Abbie Roth
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A recent editorial from Dr. Daniel DaJusta questions whether cosmetic concerns after surgery are primarily driven by surgeons, patients or parents. It is widely accepted that having a smaller, neater or less visible scar following surgery is a preferable cosmetic outcome to a large, ragged or highly visible scar. This is supported anecdotally by surgeons,…

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Moving Emergency Medicine Research Forward
 Moving Emergency Medicine Research Forward 1024 614 Abbie Roth
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Utilizing exception from informed consent studies and a national network of emergency medicine experts, clinician-scientists are advancing research to uncover best practices and improve care. Exception from informed consent (EFIC) is a special rule set utilized by the U.S. Food and Drug Administration (FDA) to support research in emergency situations. The word exception is particularly…

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First In Human
 First In Human 150 150 Abbie Roth
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The Heart Center at Nationwide Children’s Hospital has a long history of helping to bring innovations from the lab to the patient. The latest, the Autus Valve, aims to improve care and outcomes for children with pulmonary valve disease. In December 2021, Mark Galantowicz, MD, cardiothoracic surgeon and director of The Heart Center at Nationwide…

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Novel Digital Storybook Intervention Aims to Support Children With Hearing Loss
 Novel Digital Storybook Intervention Aims to Support Children With Hearing Loss 1024 683 Abbie Roth
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Hear Me Read, invented and developed at Nationwide Children’s Hospital, is now being validated in a prospective clinical trial. For children who are deaf or hard of hearing, access to sound via hearing aids and cochlear implants and intensive speech therapy with highly trained verbal therapists are important parts of developing speech and literacy. “Children…

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Improving Neuro-Critical Care Outcomes for Children in Sub-Saharan Africa
 Improving Neuro-Critical Care Outcomes for Children in Sub-Saharan Africa 1024 683 Abbie Roth
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Nicole O'Brien, MD

Nicole O’Brien, MD, is working with health experts in sub-Saharan Africa to develop Centers of Excellence for the use of transcranial doppler ultrasound (TCD).   The first time Nicole O’Brien went to Africa, she was not a doctor. In her words, she “wasn’t even close to medical.” She was staying in a small rural village…

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NCHart-1 a New Approach to Estimating Total Body Surface Area Burn Percentages
 NCHart-1 a New Approach to Estimating Total Body Surface Area Burn Percentages 150 150 Abbie Roth
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The new chart reduces math errors, improving accuracy for better outcomes. When a child has a burn injury, immediate care is essential. Fluid administration and treatment resources needed are decisions made in the field by emergency medical technicians (EMTs) and paramedics. Both decisions hinge on what percent of the child’s skin has burns. This number…

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New Approach to Dystrophin Quantification Can Help Researchers Studying Muscular Dystrophy
 New Approach to Dystrophin Quantification Can Help Researchers Studying Muscular Dystrophy 150 150 Abbie Roth
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Dystrophin is the protein product of the DMD gene and plays an important role in Becker and Duchenne muscular dystrophies. Researchers in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital have developed an automated, unbiased approach for the precise quantification of dystrophin immunofluorescence in muscle samples. Dystrophin is…

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Creating a Physician Workforce that Reflects the Patients and Families We Serve
 Creating a Physician Workforce that Reflects the Patients and Families We Serve 1024 683 Abbie Roth
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Workforce disparities persist within health care institutions and medical training. While individuals who identify as Black/African American, Latinx/Hispanic, Native American, and Pacific Islander comprise roughly 30% of the U.S. population, they are less than 15% of physicians, making them underrepresented in medicine – or URM. In fact, as the U.S. population grows more diverse, the…

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Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1
 Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1 1024 575 Abbie Roth
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Replacement of CAPN3 gene via AAV-mediated gene therapy resulted in significant, robust improvements in functional outcomes and muscle physiology in the preclinical model. LGMDs are a rare form of muscular dystrophy for which there is no treatment. As a heterogenous group caused by a number of mutations, the complexity of classification makes the disease challenging…

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Repeated Injury to Stem Cells Could be a Significant Contributor to Chronic Lung Disease
 Repeated Injury to Stem Cells Could be a Significant Contributor to Chronic Lung Disease 1024 575 Abbie Roth
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Illustration of lungs on blue silhouette of upper chest on black background

A series of experiments shows that biological aging of tracheobronchial stem cells could drive the development of chronic lung disease. In a recent publication in STEM CELLS Translational Medicine (SCTM), researchers showed that repeated injury to epithelial cells in the airway caused biological aging of the stem cells located there. Tracheobronchial stem cells (TSCs) are…

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Teens on the Road: How Technology, Policy and Parents Influence Driving Safety
 Teens on the Road: How Technology, Policy and Parents Influence Driving Safety 1024 633 Abbie Roth
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Traffic crashes are a leading cause of death in the United States. For teens, the stakes are especially high.

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Unraveling the Role of Pioneer Factors in Childhood Cancer
 Unraveling the Role of Pioneer Factors in Childhood Cancer 150 150 Abbie Roth
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New study implicates PAX3-FOXO1, an oncogenic driver of rhabdomyosarcoma, as a chimeric pioneer factor. Transcription factors are proteins that read the DNA sequences and can direct the transcription of that sequence into mRNA for translation into a protein. Transcription can become deregulated in cancer. Normally, transcription factors read sequences of DNA that are described as…

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Robotic Surgery Is Here to Stay
 Robotic Surgery Is Here to Stay 150 150 Abbie Roth
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A recent publication describes increases in the use of robotic surgery in children’s hospitals across the country.  The use of robotic surgery in tertiary children’s hospitals has been on the rise since the 2000s. In a recent publication, researchers from Nationwide Children’s Hospital sought to characterize the use and growth in acceptance of robotic surgeries…

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Providing Education and PrEP for Teens at Risk for HIV
 Providing Education and PrEP for Teens at Risk for HIV 1024 683 Abbie Roth
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In a recent PediaCast CME, Mike Patrick, MD, and Megan Brundrett, MD, share important information about offering PrEP and HIV-related education in your primary care practice. Listen to the Full Episode About 20% of new cases of HIV, the virus that causes Acquired Immunodeficiency Syndrome (AIDS), are occurring in youth aged 13 to 24. HIV/AIDS…

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Understanding Black Youth Suicide: Steps Toward Prevention
 Understanding Black Youth Suicide: Steps Toward Prevention 1024 596 Abbie Roth
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To understand the how and why of rising rates of Black youth suicide, researchers call for a ‘Ground Zero’ approach. In December 2019, the Congressional Black Caucus released the statement “Ring the Alarm: The Crisis of Black Youth Suicide in America.” The statement focused on rising suicide rates among Black youth in the United States.…

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Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children
 Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children 1024 680 Abbie Roth
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Close up color photo of little boy holding hands on his belly

Researchers conducted one of the largest prospective, multicenter trials in pediatrics looking at the connection between SI variants and common gastrointestinal symptoms. The SI gene codes for the sucrase-isomaltase enzyme, which is expressed in the intestinal brush border. This enzyme is important to the digestion of sucrose, and without it, maldigestion and poor absorption of…

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9 Facts About the COVID-19 Vaccine
 9 Facts About the COVID-19 Vaccine 1024 683 Abbie Roth
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COVID-19 is a disease caused by the SARS-CoV-2 virus. In the United States, three vaccines are approved for emergency use, those produced by Pfizer, Moderna and Johnson & Johnson (J&J). These vaccines dramatically reduce your risk of getting severely ill or dying from COVID-19. The vaccines are also being shown to reduce the spread of…

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How Can We Make Child Health Equitable?
 How Can We Make Child Health Equitable? 550 350 Jeb Phillips, Abbie Roth and Natalie Wilson
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Researchers in the Center for Child Health Equity and Outcomes Research at Nationwide Children’s Hospital are tackling this question by identifying health disparities and uncovering exactly how social drivers of health impact outcomes. “Health equity means that everyone has a fair and just opportunity to be as healthy as possible.” That’s how the Robert Wood…

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Understanding Immune Responses to Build a Better Vaccine
 Understanding Immune Responses to Build a Better Vaccine 1024 606 Abbie Roth
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Researchers have used studies of respiratory syncytial virus and infant immune responses to develop a promising vaccine candidate. Respiratory syncytial virus (RSV) is an incredibly common yet potentially deadly pathogen. Almost everyone becomes infected with RSV during their first three years of life, but for certain populations — infants and elderly or immunocompromised people —…

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Global Study Highlights Antibiotic Overuse in the NICU
 Global Study Highlights Antibiotic Overuse in the NICU 1024 683 Abbie Roth
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Baby in NICU

Antimicrobial stewardship programs were associated with lower antibiotic use, regardless of the country’s income level. Excessive antibiotic use among infants born preterm in the newborn intensive care unit (NICU) is associated with poor patient outcomes, such as sepsis, necrotizing enterocolitis, bronchopulmonary dysplasia and others, and contributes to the emergence of multi-drug resistant microbes. A new…

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Introducing a New SARS-CoV-2 Vaccine Candidate
 Introducing a New SARS-CoV-2 Vaccine Candidate 1024 512 Abbie Roth
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coronavirus

The new vaccine candidate takes advantage of the long and successful history of the measles vaccine. A team of researchers from The Ohio State University and Nationwide Children’s have built a novel vaccine candidate against SARS-CoV-2. The candidate, published in Proceedings of the National Academy of Sciences (PNAS), used the measles vaccine as a vector…

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Targeting FSHD With Designed Antisense RNAs
 Targeting FSHD With Designed Antisense RNAs 1024 683 Abbie Roth
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Researchers describe small nuclear RNA antisense expression cassettes as a way to silence the DUX4 gene underlying facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy (FSHD) arises from genetic and epigenetic changes that result in expression of the DUX4 gene in muscle. DUX4 is a developmental gene that is normally off in healthy muscle.  When expressed in…

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Incidence and Impact of Acute Kidney Injury in Patients With Hypoplastic Left Heart Syndrome
 Incidence and Impact of Acute Kidney Injury in Patients With Hypoplastic Left Heart Syndrome 150 150 Abbie Roth
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While incidence of severe kidney injury after surgery for hypoplastic left heart syndrome is low, it may be linked to increased 30-day mortality. Acute kidney injury – the abrupt decline of renal function – following pediatric heart surgery leads to worse outcomes, including increased mortality. The overall incidence of acute kidney injury (AKI) after pediatric…

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Lauren Bakaletz Named 2021 Allen Distinguished Scholar in Pediatric Research
 Lauren Bakaletz Named 2021 Allen Distinguished Scholar in Pediatric Research 1024 575 Abbie Roth
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Lauren Bakaletz, PhD, director of the Center for Microbial Pathogenesis in the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital, was named the 2021 Allen Distinguished Scholar in Pediatric Research. The award is given in honor of former Nationwide Children’s CEO, Steve Allen, MD, and his role in growing the AWRI into a preeminent research institution.…

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Polysomnography in Infants: How Much Total Sleep Time is Really Needed?
 Polysomnography in Infants: How Much Total Sleep Time is Really Needed? 1024 575 Abbie Roth
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small baby with nose canula

Study identifies factors affecting total sleep time and suggests shorter sleep times can be effective for accurate interpretation and clinical decision making. In a recent study published in American Journal of Perinatology, experts from Nationwide Children’s Hospital investigated factors that affect total sleep time(TST) during infant polysomnography (PSG) in an effort to determine how much TST is…

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What Are the Clinical Implications of Crescentic Glomerulonephritis?
 What Are the Clinical Implications of Crescentic Glomerulonephritis? 1024 732 Abbie Roth
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The Pediatric Nephrology Research Consortium’s most recent study investigates the risk factors for disease progression in children with glomerulonephritis and crescents on kidney biopsy. In patients with glomerulonephritis (GN), the histopathology of the kidney may include crescents, which result from extra-capillary proliferation of cells within the glomerulus. A recent study from the Pediatric Nephrology Research…

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Measuring the Progression of CF in School-Aged Children
 Measuring the Progression of CF in School-Aged Children 1024 575 Abbie Roth
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Illustration of lungs on blue silhouette of upper chest on black background

A multicenter study utilized chest computed tomography and lung function tests taken repeatedly over two years in school-aged children with mild cystic fibrosis. Understanding disease progression in chronic illnesses is important to managing patients and improving outcomes. For children with cystic fibrosis, it can be difficult to predict how long it will take for negative…

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More to Telehealth Than Meets the Screen
 More to Telehealth Than Meets the Screen 1024 535 Abbie Roth
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Collage of health technology tools

Telehealth has become essential to American health care during the COVID-19 pandemic, but is it really the solution to our biggest access-to-care problems? When COVID-19 ignited stay-at-home orders, public and private insurers quickly relaxed the rules for covering telehealth visits. Health care systems responded in kind by rapidly expanding their telehealth capacity and training. Expanding…

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Managing Lymphatic Flow Disorders: Expanding Care Through Collaboration
 Managing Lymphatic Flow Disorders: Expanding Care Through Collaboration 1024 683 Abbie Roth
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Alteration in the Lymphatic System Leading to Flow Disorders The lymphatic system plays a critical role in circulating a clear to yellow-colored fluid called lymph, which contains proteins, immune factors and cells throughout the body. It is also responsible for collecting fats and fat-soluble vitamins from the gastrointestinal tract in cloudy-appearing chylous fluid. This fluid…

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Novel Intervention Helps Infants With Cerebral Palsy Develop Arm and Hand Function
 Novel Intervention Helps Infants With Cerebral Palsy Develop Arm and Hand Function 1024 683 Abbie Roth
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A new NIH-funded randomized controlled trial shows that an intervention combining a patented soft restraint harness, therapist coaching and parent training increases reach smoothness, fine motor skills and tactile sensation in the more-affected upper extremity. For the first time in infants with CP under 2, a clinical trial of this type of intervention was shown…

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Additions to Neuro-Oncology Team Bring CONNECT Consortium to Nationwide Children’s
 Additions to Neuro-Oncology Team Bring CONNECT Consortium to Nationwide Children’s 1024 575 Abbie Roth
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Maryam Fouladi, MD, has been named the co-executive director of the Pediatric Neuro-Oncology Program at Nationwide Children’s Hospital and Rachid Drissi, PhD, will join the Center for Childhood Cancer and Blood Diseases in the Abigail Wexner Research Institute as a principal investigator focused on cellular aging and telomerase inhibitors to suppress brain tumor growth in children. Dr. Fouladi will continue her…

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Race Is a Risk Factor for Postoperative Death in Apparently Healthy Children in United States
 Race Is a Risk Factor for Postoperative Death in Apparently Healthy Children in United States 1024 683 Abbie Roth
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African American children were nearly 3.5 times more likely to die within 30 days after surgery, compared to white peers. In a new study, published in Pediatrics, researchers have shown that being African American was strongly associated with a higher risk of postoperative complications and mortality among apparently healthy children. In fact, compared to their white peers,…

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Targeting Bacterial Biofilm Linchpin Prevents and Treats Recalcitrant Biofilm-Mediated Infections
 Targeting Bacterial Biofilm Linchpin Prevents and Treats Recalcitrant Biofilm-Mediated Infections 1024 575 Abbie Roth
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Illustration showing the precise pattern of a biofilm - a perfect, 3D matrix

A new study highlights two approaches with substantive efficacy and potential for broad application to combat biofilm-mediated diseases. Chronic and recurrent bacterial diseases are treatment-resistant due to the ability of the pathogens to establish biofilms, which act as fortresses built of extracellular DNA and proteins to protect populations of the bacteria. For more than 11…

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From Expectant Parents to Advocates: One Family’s Journey With Hypoplastic Left Heart Syndrome
 From Expectant Parents to Advocates: One Family’s Journey With Hypoplastic Left Heart Syndrome 1024 575 Abbie Roth
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Mila’s parents wanted her to have the best chance at surviving her high-risk comprehensive stage 2 surgery – their journey led them to The Heart Center at Nationwide Children’s. Mid-way into their pregnancy, Jacob and Kayla went in for their 20-week ultrasound. “We were very excited to get into things like paint colors for our…

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Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy
 Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children With Duchenne Muscular Dystrophy 150 150 Abbie Roth
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One-year data from the first four patients to receive a single dose of the rAAVrh74.MHCK7.micro-dystrophin gene therapy is published in JAMA Neurology. Researchers from Nationwide Children’s Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy…

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Clinical Trials for Blood Cancers: Advancing Options for Children and Young Adults
 Clinical Trials for Blood Cancers: Advancing Options for Children and Young Adults 1024 683 Abbie Roth
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Most cancer treatments are first discovered, developed and approved for adult patients. But translating those therapies to pediatric and young adult patients with cancers can be more of a winding path than a superhighway. At Nationwide Children’s Hospital, the Division of Hematology, Oncology and Blood and Marrow Transplant is dedicated to participating in and supporting clinical…

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Study of Children With COVID-19 Admitted to US and Canadian Pediatric Intensive Care Units
 Study of Children With COVID-19 Admitted to US and Canadian Pediatric Intensive Care Units 1024 683 Abbie Roth
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Publication examines the characteristics and outcomes of children with COVID-19 who were admitted to North American PICUs. While two studies from Wuhan, China, have indicated that COVID-19 disease burden and severity seems to be lower in children, it remains to be seen how children around the world will fare as the pandemic progresses. In March…

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Using Genomics to Unlock Secrets of Recurrent Ear Infections
 Using Genomics to Unlock Secrets of Recurrent Ear Infections 1024 575 Abbie Roth
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conceptual art of DNA

Nontypeable Haemophilus influenzae (NTHI) is responsible for many acute and recurrent infections in children, such as otitis media. Otitis media – middle ear infection – is a common type of recurrent infection in children, with as many as 700 million acute cases and 300 million recurrent cases each year. One type of bacteria responsible for…

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Searching for a Predictive Biomarker of Pulmonary Hypertension in Babies With Bronchopulmonary Dysplasia
 Searching for a Predictive Biomarker of Pulmonary Hypertension in Babies With Bronchopulmonary Dysplasia 1024 575 Abbie Roth
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Pulmonary hypertension is high blood pressure in the lungs and is a comorbidity of bronchopulmonary dysplasia (BPD), which is the chronic lung disease of premature babies. When pulmonary hypertension is present in the context of BPD, the risk of death is significantly increased. As neonatologists continue to define the phenotype of severe BPD, Jennifer Trittmann, MD, MPH,…

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THRIVING After Severe Bronchopulmonary Dysplasia
 THRIVING After Severe Bronchopulmonary Dysplasia 1024 731 Abbie Roth
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Meet Willow. She was born via emergency C-section at just 22 weeks. Doctors at the delivering hospital told Willow’s mom Cortney that her baby’s chances of survival were low. But after a long journey through the newborn intensive care unit (NICU) at Nationwide Children’s Hospital, Willow is a vivacious 4-year-old looking forward to starting kindergarten…

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Epigenetics, Chromatin Architecture and a Judo Mechanism to Attack Cancer
 Epigenetics, Chromatin Architecture and a Judo Mechanism to Attack Cancer 1024 575 Abbie Roth
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Researchers broaden the understanding chromatin architecture in human disease. Epigenetics is the study of how genetic information is context-dependent: it is organized so it can be repressed, but also read, repaired and replicated. For example, transcription factors can “communicate” with each other through the chromatin-DNA interface, and work in combinations to regulate which genes are…

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What Could COVID-19 Mean for Pediatrics?
 What Could COVID-19 Mean for Pediatrics? 1024 683 Abbie Roth
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As COVID-19 spreads across the globe, experts are digging into the data and establishing protocols to better understand the illness in the context of pediatrics. As COVID-19, the illness caused by a novel coronavirus, has reached pandemic status, life has changed dramatically. At Nationwide Children’s Hospital, the halls are uncharacteristically quiet as a “stay at…

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Health Care and Medication Use Among Adolescents with Opioid Use Disorder in Ohio
 Health Care and Medication Use Among Adolescents with Opioid Use Disorder in Ohio 1024 575 Abbie Roth
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From Ohio – a state in the heart of the opioid crisis – a new study on the medications prescribed to teens with opioid use disorder. A new study from researchers in the Center for Innovation in Pediatric Practice at the Abigail Wexner Research Institute at Nationwide Children’s Hospital, recently published in Journal of Adolescent Health,…

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A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old
 A Natural History of Duchenne Muscular Dystrophy in Boys 3 to 6 Years Old 1024 575 Abbie Roth
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boy with muscular dystrophy completing walk test

A prospective, multicenter study following 153 boys younger than 6 years old documents disease progression of Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. It affects males, occurring in 1/3,600 live-born infant boys. While some affected newborns may have mild hypotonia, other symptoms are rarely…

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How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies?
 How Does a Children’s Hospital Excel in the Discovery and Development of New Therapies? 1024 575 Abbie Roth
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conceptual art of DNA

A conversation with Dennis Durbin, MD, MSCE chief scientific officer, Abigail Wexner Research Institute, Nationwide Children’s Hospital Nationwide Children’s has become an epicenter for gene therapy discovery and development. The discovery in 2009 that adeno-associated virus (AAV) could cross the blood-brain barrier was a milestone in the development of dozens of gene therapy products for neuromuscular…

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