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Lauren Dembeck

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
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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…

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

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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
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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…

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New Initiative Aims to Bring Personalized Diagnosis and Treatment to Children With Solid Tumors
 New Initiative Aims to Bring Personalized Diagnosis and Treatment to Children With Solid Tumors 1024 614 Lauren Dembeck
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abstract art of magnifying glass over DNA strand

Collaboration among National Cancer Institute, Children’s Oncology Group and Nationwide Children’s Hospital will offer molecular characterization of childhood cancers. The National Institutes of Health’s National Cancer Institute (NCI), Children’s Oncology Group (COG), and Nationwide Children’s Hospital are poised to change the direction of pediatric cancer diagnosis and care through a new initiative that is the…

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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
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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…

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Discovering the Genetic Causes of Congenital Heart Defects
 Discovering the Genetic Causes of Congenital Heart Defects 1024 575 Lauren Dembeck
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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,…

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Do Symptom Scores and pH Impedance Correlate in Infants Treated for Gastroesophageal Reflux?
 Do Symptom Scores and pH Impedance Correlate in Infants Treated for Gastroesophageal Reflux? 1024 683 Lauren Dembeck
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Gastroesophageal reflux (GER) — the passage of gastric contents into the esophagus — is a physiologic process that can be considered normal or abnormal depending on whether troublesome symptoms and/or complications also occur. In infants, it is difficult for clinicians to distinguish between GER and pathophysiologic GER disease (GERD). “Current diagnostic criteria for GERD are…

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Salivary MicroRNAs: A Promising Biomarker for Persistent Post-concussive Symptoms in Children With Concussion
 Salivary MicroRNAs: A Promising Biomarker for Persistent Post-concussive Symptoms in Children With Concussion 1024 768 Lauren Dembeck
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The multidisciplinary study used children’s saliva and genomic analysis to identify promising biomarkers for persistent post-concussive symptoms. Predicting clinical recovery of children with concussion is challenging. While concussion symptoms typically resolve within one to three weeks, up to one-third of children develop persistent post-concussive symptoms (PPCS), including headache, nausea, dizziness, blurred vision, and sensitivity to…

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Researchers Characterize Growth and Remodeling of Tissue-Engineered Blood Vessels
 Researchers Characterize Growth and Remodeling of Tissue-Engineered Blood Vessels 600 400 Lauren Dembeck
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Tissue engineered vascular graft

Tissue engineering may soon give babies with congenital heart disease new blood vessels capable of native function and growth.   Major cardiovascular reconstructive operations in babies with congenital heart defects require the use of artificial blood vessels called vascular grafts. Because these grafts are made of man-made materials, the recipients’ tissues eventually begin to outgrow…

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Engineered Viruses Help the Immune System Target Cancer Cells
 Engineered Viruses Help the Immune System Target Cancer Cells 1024 623 Lauren Dembeck
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The seemingly unlikely “partnership” leads to strong antitumor responses in pediatric tumor models. A recent study from researchers at Nationwide Children’s Hospital, published in the Journal for Immuno Therapy of Cancer, describes how a type of viroimmunotherapy activates the immune system to preferentially target tumor cells. “Pediatric tumor typically lack neoantigens – new proteins that…

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What Psychosocial Interventions Are Well Established for the Treatment of Bipolar Disorder in Youth?
 What Psychosocial Interventions Are Well Established for the Treatment of Bipolar Disorder in Youth? 150 150 Lauren Dembeck
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Clinical psychology researchers at Nationwide Children’s Hospital recently published a comprehensive review of evidence-based psychosocial treatments for bipolar disorder in youth.  Bipolar spectrum disorders (BPSDs) are chronic, recurrent conditions characterized by episodic mood disturbance alternating between periods of depression and (hypo)mania. These conditions are associated with considerable impairment, reduced quality of life, high rates of…

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First Multicenter, Prospective Study of Surgical Approach and Short-term Outcomes in Patients Undergoing Total Pancreatectomy With Islet Autotransplantation
 First Multicenter, Prospective Study of Surgical Approach and Short-term Outcomes in Patients Undergoing Total Pancreatectomy With Islet Autotransplantation 150 150 Lauren Dembeck
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The goal of the prospective study is to critically evaluate current clinical practices to determine which should be adopted or abandoned. It will also provide an opportunity to evaluate patients’ quality of life after total pancreatectomy with islet autotransplantation.   For children and adults with debilitating pancreatitis that fails to respond to medical and endoscopic…

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Researchers Classify High-Risk Variants in Lamin A/C Cardiac Disease Using Machine Learning
 Researchers Classify High-Risk Variants in Lamin A/C Cardiac Disease Using Machine Learning 1024 575 Lauren Dembeck
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conceptual art of DNA

A recent study from researchers at Nationwide Children’s Hospital, published in Heart Rhythm, describes how a LMNA variant of unknown significance was identified as high-risk using family histories, genomic analysis and machine learning. “Genetic variants in LMNA are well known to cause a spectrum of clinical disease — referred to as laminopathies — particularly cardiomyopathy,…

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4-Year Study Finds No Correlation Between Head Impacts and Cognitive Outcomes in Youth Tackle Football Players
 4-Year Study Finds No Correlation Between Head Impacts and Cognitive Outcomes in Youth Tackle Football Players 1024 683 Lauren Dembeck
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In the longest study of its kind, researchers studied individual players through 4 seasons of youth tackle football and found no correlation between the number or severity of head impacts and cognitive and behavioral outcomes.  When children are considering playing contact sports, parents/guardians and medical providers must weigh the risks and benefits. One of the…

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Right Care, Right Place, Right Time? Frequency and Duration of Boarding for Pediatric Mental Health Conditions at Acute Care Hospitals
 Right Care, Right Place, Right Time? Frequency and Duration of Boarding for Pediatric Mental Health Conditions at Acute Care Hospitals 150 150 Lauren Dembeck
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Mental health boarding durations significantly exceed standards by the Joint Commission, and youth receive minimal mental health services in these acute care settings. This study calls for increased awareness, dedicated resources and research to improve mental health care for youths in these settings. According to the results of a national survey conducted, in part by…

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High Rate of Urologic Anomalies in Children With Anorectal Malformations
 High Rate of Urologic Anomalies in Children With Anorectal Malformations 150 150 Lauren Dembeck
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Early recognition of urologic problems through proactive screening and urologic collaboration may help prevent of renal deterioration and allow for timely treatment in this population.   Researchers at Nationwide Children’s Hospital have recently demonstrated that urologic anomalies occur at a high rate in children with anorectal malformations and appear to increase in frequency with increasing…

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Codetection of Respiratory Bacteria in Infants With RSV Infection Associated With Worse Outcomes
 Codetection of Respiratory Bacteria in Infants With RSV Infection Associated With Worse Outcomes 1024 575 Lauren Dembeck
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Color photo of Black father holding infant on shoulder in front of nursery background with clouds on the wall

The interaction between the bacteria and respiratory syncytial virus (RSV) appears to be synergistic. Researchers are now working to understand the underlying biological mechanisms. Researchers at Nationwide Children’s Hospital have discovered that codetection of Haemophilus influenzae and Streptococcus pneumoniae in the upper respiratory tract of previously healthy infants with RSV infection was independently associated with…

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Microsurgery for Acute Flaccid Myelitis: Personalized Approach Leads to Remarkable Recoveries
 Microsurgery for Acute Flaccid Myelitis: Personalized Approach Leads to Remarkable Recoveries 1024 440 Lauren Dembeck
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Children from around the world are coming to Nationwide Children’s for specialized care for AFM with lower extremity involvement. Dr. Amy Moore invented many of the procedures that are leading to remarkable recoveries for these patients. After an ordinary cold, most people continue with life as usual; however, in some rare cases, a previously healthy…

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Distinct Transcriptional Regulatory Domain Identified in Ewing Sarcoma Fusion Protein
 Distinct Transcriptional Regulatory Domain Identified in Ewing Sarcoma Fusion Protein 1024 1024 Lauren Dembeck
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Illustration of split DNA - Single strand ribonucleic acid

A better understanding of a newly defined region in the fusion protein that causes Ewing sarcoma may lead to novel approaches for therapeutic targeting. Ewing sarcoma is an aggressive pediatric bone cancer defined by the presence of a single genetic abnormality: a chromosomal translocation. The translocation splits two genes and joins them abnormally, creating a…

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Kidney and Urinary Tract Protein Demonstrates Antimicrobial Activity
 Kidney and Urinary Tract Protein Demonstrates Antimicrobial Activity 1024 683 Lauren Dembeck
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A little-studied peptide found in the urinary tract is a potential biomarker for urinary tract infection risk and could be developed into a novel therapeutic against drug-resistant bacteria.  Researchers at Nationwide Children’s Hospital have demonstrated that an understudied protein expressed in the human kidney and bladder kills the bacteria that cause urinary tract infections (UTI).…

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Alarming Upward Trend in Black Youth Suicide From 2003 to 2017
 Alarming Upward Trend in Black Youth Suicide From 2003 to 2017 1024 683 Lauren Dembeck
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Sad black teenage girl

Prioritization of research aimed at identifying specific risk and protective factors associated with Black youth suicidal behavior is needed. In the United States, the rates of suicide and suicidal behavior among youth, children and adolescents 5-17 years of age, have been steadily increasing over the last decade, and Black youth, 5-12 years, are approximately two…

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Probiotic Treatment Promotes Neurodevelopment After Experimental Necrotizing Enterocolitis
 Probiotic Treatment Promotes Neurodevelopment After Experimental Necrotizing Enterocolitis 777 640 Lauren Dembeck
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B&W image of Dr. Gail Besner posing for a photo in her lab coat

A single dose of a novel live probiotic therapeutic protects the rodent brain during early development and the effects persist into adolescence. Researchers at Nationwide Children’s Hospital have demonstrated that when given in a biofilm state, probiotic Lactobacillus reuteri prevents the detrimental neurodevelopmental sequalae of experimental necrotizing enterocolitis (NEC).1 The findings, published in Brain, Behavior…

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Molecular Toolset: Real-Time Screening for SARS-CoV-2 Variants
 Molecular Toolset: Real-Time Screening for SARS-CoV-2 Variants 1024 683 Lauren Dembeck
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Tracking variants of concern or interest is critical to inform public health decisions and to ensure patients receive the best available COVID-19 treatments for SARS-CoV-2 infections. Researchers at Nationwide Children’s Hospital and The Ohio State University (OSU) have developed a set of mutation-specific tests with same-day reporting that can detect five variants of concern (VOCs)…

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The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay
 The 5,000 Babies Project: Screening Newborns for Early Diagnosis of Developmental Delay 150 150 Lauren Dembeck
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Democratizing health care requires equal access to early identification of infant neurodevelopmental disorders.  Delayed diagnosis of disorders that involve developmental delays, such as cerebral palsy, can lead to lifelong disability. Yet not all families have access to health care facilities employing highly trained specialists who can test for these developmental delays. Infants from minority families…

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Bronchopulmonary Dysplasia: Characterizing the Chronic Lung Disease of Prematurity
 Bronchopulmonary Dysplasia: Characterizing the Chronic Lung Disease of Prematurity 1024 575 Lauren Dembeck
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Nurse caring for infant in Neonatal Intensive Care Unit (NICU)

  Precise definitions and/or classifications of bronchopulmonary dysplasia are needed to optimize outcomes. Researchers at Nationwide Children’s Hospital are continuing to help refine the definition of severe bronchopulmonary dysplasia (sBPD). In a recent study, members of the BPD Collaborative demonstrated that preterm infants with sBPD who were on invasive mechanical ventilation at 36 weeks, a…

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Diuretic Therapy in Preterm Infants With Acute Kidney Injury Is Common: Should It Be?
 Diuretic Therapy in Preterm Infants With Acute Kidney Injury Is Common: Should It Be? 1024 575 Lauren Dembeck
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small baby with nose canula

Lack of efficacy and safety data on diuretic therapy in the critically ill infants is cause for concern. Researchers at Nationwide Children’s Hospital are beginning to fill in the gaps. Despite the common use of diuretic therapy in preterm infants with acute kidney injury, to date, no large studies have evaluated the patterns of prescription…

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Keeping in Touch: Renin-Producing Cells Require Cell Adhesion Molecule to Survive
 Keeping in Touch: Renin-Producing Cells Require Cell Adhesion Molecule to Survive 1024 575 Lauren Dembeck
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Uncovering the molecular mechanisms underlying the renin-angiotensin-aldosterone system may provide insights into the long-term effects of hypertension and antihypertensive medications.  As the main source of renin in the human body, juxtaglomerular (JG) cells are crucial for blood pressure and fluid-electrolyte homeostasis. However, these cells cannot be cultured in vitro, making it challenging to study the…

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The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease
 The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease 1024 575 Lauren Dembeck
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Despite widespread scientific interest in messenger RNA (mRNA) structure, its role in human health and disease remains poorly understood. Researchers at Nationwide Children’s Hospital have developed novel software and metrics to identify “silent” genetic variants that affect mRNA folding and may underlie rare genetic disorders. Historically, synonymous or “silent” genetic variants — those in protein-coding…

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The First Opioid-Prescribing Guidelines for Children Who Require Surgery
 The First Opioid-Prescribing Guidelines for Children Who Require Surgery 1024 573 Lauren Dembeck
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Providers should recognize the risks of opioids, maximize nonopioid regimens, and educate families appropriately. The first opioid-prescribing guidelines to address the unique needs of children who require surgery have been published by an expert panel in JAMA Surgery. The new guidelines aim to help health care professionals caring for children and adolescents in the perioperative…

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Immersive Virtual Reality-Based Training Improves Empathy Among Health Care Providers
 Immersive Virtual Reality-Based Training Improves Empathy Among Health Care Providers 414 224 Lauren Dembeck
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A novel VR-based training program helps providers develop knowledge, skills, and attitudes to understand how social determinants of health affect patients and how to mitigate their effects. Researchers recently reported their novel virtual reality (VR)-based empathy training program, Making Professionals Able THrough Immersion (MPATHI), improved knowledge, skills, and attitudes of health care providers for care…

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A Quick and Reliable Method to Determine The Time to Full Weight Bearing in Patients Undergoing Intramedullary Limb Lengthening
 A Quick and Reliable Method to Determine The Time to Full Weight Bearing in Patients Undergoing Intramedullary Limb Lengthening 1024 575 Lauren Dembeck
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A new method to objectively measure bone healing may help the patient with an intramedullary lengthening nail make strides to full weight bearing status. Intramedullary limb lengthening is indicated for the treatment of limb length discrepancy and short stature. Traditionally, the procedure was done using external fixators, which must remain on the patient’s limb for…

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No Evidence Supporting Prophylactic Indomethacin Treatment for Most Preterm Infants
 No Evidence Supporting Prophylactic Indomethacin Treatment for Most Preterm Infants 1024 575 Lauren Dembeck
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Nurse caring for infant in Neonatal Intensive Care Unit (NICU)

Inconsistency among studies prompted researchers to take a closer look at the drug’s effects. Despite limited evidence supporting its use, prophylactic indomethacin treatment is often administered to very preterm infants within the first 24-hours after birth to reduce the risks of intraventricular hemorrhage and longer-term neonatal morbidities, such as bronchopulmonary dysplasia (BPD). Data from a…

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Novel Nitric Oxide-Mediated Mechanism Facilitates Calcific Aortic Valve Disease
 Novel Nitric Oxide-Mediated Mechanism Facilitates Calcific Aortic Valve Disease 1024 752 Lauren Dembeck
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Top-down view of heart valves

The novel pathway could be targeted to prevent or reverse aortic valve calcification in humans. Researchers have recently described a novel nitric oxide-mediated mechanism in calcific aortic valve disease that involves the ubiqutin-proteasome pathway, and its modulation in animal models was shown to cause aortic valve calcification. The pathway could potentially be modulated to prevent…

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Does Psychosocial Functioning Differ Among Children With and Without Differences of Sex Development?
 Does Psychosocial Functioning Differ Among Children With and Without Differences of Sex Development? 1024 575 Lauren Dembeck
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Parent and child holding hands

A multidisciplinary team of researchers recently found that children with differences of sex development (DSD) appear to be at greater risk for psychosocial problems relative to children with cleft lip and/or palate (CL/P) and unaffected peers. The study, which was published in the Journal of Pediatric Psychology, highlights the increased need for integrated interdisciplinary care with…

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Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy
 Batten Disease Experts Publish Common Key Practices For Enzyme Replacement Therapy 1024 683 Lauren Dembeck
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Neuronal ceroid lipofuscinosis type 2 disease is a rare, rapidly-progressing, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. This form of Batten disease has an onset between two to four years of age. Children with CLN2 disease may experience intractable epilepsy, progressive cognitive and motor decline, and loss of vision. Historically, most children…

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Novel Roles of the Urothelium in the Development of Congenital Anomalies of the Kidney and Urinary Tract
 Novel Roles of the Urothelium in the Development of Congenital Anomalies of the Kidney and Urinary Tract 150 150 Lauren Dembeck
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In addition to genetic defects, interactions of the developing urothelium with its underlying mesenchyme and superficial plaque may contribute to congenital anomalies of the kidney and urinary tract. Congenital anomalies of the kidney and urinary tract (CAKUTs) are the leading cause of chronic and end-stage kidney disease in children. Collaborative translational research at Nationwide Children’s…

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Boosting Natural Killer Cells for the Treatment of COVID-19
 Boosting Natural Killer Cells for the Treatment of COVID-19 150 150 Lauren Dembeck
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Natural killer cells — critical for immune surveillance and host defense — have an important role in cancer immunotherapy and antiviral responses. While driving to the laboratory one day, Brian Tullius, MA, MD, a fourth-year bone marrow transplant and cell therapies fellow at Nationwide Children’s in the Lee Lab, had an epiphany. “I thought, ‘wait…

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Reinforcing Education for Adrenal Insufficiency Self-Management Improves Patient Outcomes
 Reinforcing Education for Adrenal Insufficiency Self-Management Improves Patient Outcomes 150 150 Lauren Dembeck
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Patients with adrenal insufficiency (AI) receiving daily maintenance corticosteroid replacement therapy may develop signs and symptoms of AI when encountered with physical stress events, such as fever, infection, pain from injury or surgery. Patient education on stress dosing of hydrocortisone at the time of illness or injury is essential to prevent adrenal crisis, a life-threatening…

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Does Low Baseline Renal Volume Lead to Renal Insufficiency in Children With Cloacal Anomalies?
 Does Low Baseline Renal Volume Lead to Renal Insufficiency in Children With Cloacal Anomalies? 1024 683 Lauren Dembeck
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According to the results of a recent study published in Urology, children with cloacal anomalies have baseline renal volumes similar to those of children without cloacal anomalies, indicating that the increased risk of renal insufficiency in children with cloacal anomalies appears to be due to postnatal renal injury. “Before we can determine if surgical interventions or…

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Intractable Epilepsy Linked to Brain-Specific Genetic Mutation
 Intractable Epilepsy Linked to Brain-Specific Genetic Mutation 1024 794 Lauren Dembeck
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DNA replication errors during development are revealed by genomic study. As part of an ongoing, collaborative study between neurologists and genomics experts at Nationwide Children’s Hospital, researchers have identified somatic mosaicism in the resected brain tissues of a child with treatment-resistant, intractable epilepsy. One of the two genetically distinct cell populations identified carries a pathogenic…

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Assessing the Impact of COVID-19 on Pediatric Cancer Research
 Assessing the Impact of COVID-19 on Pediatric Cancer Research 1024 575 Lauren Dembeck
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Times of uncertainty offer an opportunity to reflect and reevaluate priorities. “This is a time that warrants resiliency and different approaches for dealing with difficulties, and pediatric cancer research is a field that reflects the resilient spirit of the kids that we are striving to find cures for,” says Jeffery Auletta, MD, director of the Blood…

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Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model
 Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model 1024 575 Lauren Dembeck
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Gene therapy shows promise for clinical benefit in demyelinating, neurodegenerative disease. Krabbe disease is an aggressive, incurable pediatric neurodegenerative disease caused by mutations in the galactosylceramidase (GALC) gene. Deficiency of the GALC protein activity leads to cytotoxic accumulation of a cellular metabolite called psychosine, which compromises normal turnover of myelin in the central and peripheral…

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Can a Kidney Failure Risk Equation Validated in Adults Predict Kidney Failure in Children?
 Can a Kidney Failure Risk Equation Validated in Adults Predict Kidney Failure in Children? 1024 575 Lauren Dembeck
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Novel disease-specific biomarkers are needed to improve prediction models in pediatric disease. Obstructive uropathy is a frequent cause of kidney injury in children, and it is estimated to cause approximately one-sixth of pediatric kidney failure cases in North America. However, risk equations to predict kidney disease progression have not yet been developed for children. To…

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Novel Genetic Variant Identified in CARMIL2 Deficiency
 Novel Genetic Variant Identified in CARMIL2 Deficiency 1024 575 Lauren Dembeck
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International program facilitates the diagnosis of a rare immunodeficiency in two children caused by a novel genetic variant. A multidisciplinary team of physicians and scientists at Nationwide Children’s Hospital have identified a novel loss-of-function variant causing CARMIL2 deficiency, an inborn error of immunity, in two Saudi Arabian brothers born to consanguineous parents. The case was…

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Novel Use of Vedolizumab Resolves Steroid-Refractory Acute Graft-Versus-Host Disease in a Pediatric Transplant Recipient
 Novel Use of Vedolizumab Resolves Steroid-Refractory Acute Graft-Versus-Host Disease in a Pediatric Transplant Recipient 1024 575 Lauren Dembeck
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Vedolizumab is a monoclonal antibody that targets α4β7 integrin present on gut homing T cells and is indicated for adult inflammatory bowel disease Physicians at Nationwide Children’s Hospital have successfully treated steroid-refractory gastrointestinal acute graft-versus-host disease (SR GI aGVHD) with adjuvant vedolizumab therapy in a pediatric allogeneic hematopoietic cell transplant (HCT) recipient. The case was…

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Exploring the Link Between Cystic Fibrosis and Celiac Disease
 Exploring the Link Between Cystic Fibrosis and Celiac Disease 1024 575 Lauren Dembeck
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Overlapping symptoms can cause delayed diagnosis of celiac disease in patients with cystic fibrosis. Physician scientists at Nationwide Children’s Hospital have recently identified three cases of patients with cystic fibrosis, all of whom had the same genotype, were treated with the CFTR modulator, ivacaftor, and were diagnosed with celiac disease. This adds to a novel body…

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Open Reduction May Improve Acetabular Remodeling in Developmental Dysplasia of the Hip
 Open Reduction May Improve Acetabular Remodeling in Developmental Dysplasia of the Hip 1024 575 Lauren Dembeck
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Study of children who had reductions for developmental hip dysplasia at age 2 years or younger highlights differences in outcomes for open and closed reductions. In children under 2 years of age with developmental dysplasia of the hip, open reduction with capsulorrhaphy appears to improve acetabular remodeling more than closed reduction, according to a study…

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Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease
 Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease 1024 575 Lauren Dembeck
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Variant type and inheritance pattern affect patient phenotypes in IQSEC2-related disease. Investigators from Nationwide Children’s Hospital and The Ohio State University College of Medicine recently identified additional pathogenic variants within the IQSEC2 gene, which has previously been associated with X-linked intellectual disability, in five patients. They also demonstrated that different variant types correlate with the severity of…

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New Celiac Care Index Improves Adherence to Care Guidelines
 New Celiac Care Index Improves Adherence to Care Guidelines 1024 575 Lauren Dembeck
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The recent implementation of a Celiac Care Index (CCI) at Nationwide Children’s Hospital resulted in improved adherence to published care guidelines, reduced variability in baseline evaluations, and indicated potentially unnecessary baseline laboratory tests for further evaluation. The study, which was published in The Journal of Pediatrics, describes the quality improvement (QI) strategy implemented at the hospital.…

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Keeping Options Open in Complex Pediatric Nephrolithiasis
 Keeping Options Open in Complex Pediatric Nephrolithiasis 1024 575 Lauren Dembeck
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Urologists in the Pediatric Urology Midwest Alliance recently looked at how endoscopic assisted robotic pyelolithotomy could reduce the number of procedures for children with ureteropelvic junction obstruction. The Pediatric Urology Midwest Alliance (PUMA) recently published a new report demonstrating that endoscopic assisted robotic pyelolithotomy (EARP) is an acceptable treatment option for complex cases of pediatric…

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