Pediatrics Commons^™

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Long-Term Liver-Targeted Aav8 Gene Therapy For Mucopolysaccharidosis Iva, Shaukat A. Khan, Eliana Benincore-Florez, Fnu Nidhi, Jose Victor Álvarez, Dione A. Holder, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and keratan sulfate, primarily in cartilage and its extracellular matrix, resulting in a direct impact on cartilage and bone development, as well as subsequent systemic skeletal dysplasia. ERT and HSCT are current treatment options, but they have a limited effect on bone lesions. In this article, we investigated liver-specific AAV8 vectors with a thyroxine-binding globulin promoter in the MPS IVA murine model to evaluate the long-term (24 weeks in males …

Methemoglobinemia-Induced Cardiac Dysfunction In A Pediatric Patient, Brian Drury, Chelsea Boyd, Kelsey Van Housen, Siraj Amanullah

Student Papers, Posters & Projects

Methemoglobinemia is a rare congenital or acquired cause of functional anemia resulting from oxidation of hemoglobin. Prompt recognition and treatment are critical to prevent tissue hypoxia and end-organ injury. While other complications are well described, cardiac dysfunction is rarely reported—especially in children. We present what, to our knowledge, is the first known case of methemoglobinemia-induced transient cardiac dysfunction—or “myocardial stunning— in a pediatric patient. This case underscores the importance of maintaining a high index of suspicion and assessing cardiac involvement in such patients. Early intervention can lead to full recovery and prevent long-term sequelae, even in the presence of multiorgan …

Combined Multichannel Intraluminal Impedance And Ph Testing In Infants And Young Children-A Narrative Review, Rochelle Sequeira Gomes, Sheeja Abraham, Michael Favara, Amy J. Sloane, Zubair H. Aghai

Department of Medicine Faculty Papers

Gastroesophageal reflux disease (GERD) is common in infants and young children, and thediagnosis and characterization of the disease continues to evolve in recent times. The typicalsymptoms thought to be related to GERD in young children are often nonspecific andubiquitous, underscoring the need for diagnostic testing in patients who have severe symptomsor complications related to GERD. Combined multichannel intraluminal impedance and pHtesting (MII-pH) is a diagnostic tool that can be used to study the frequency andseverity of gastroesophageal reflux. Compared to other diagnostic devices, MII-pH hasthe advantage of detecting both acidic and alkaline reflux events, as well as allows the study …

Three-Dimensional Human Mucopolysaccharidosis Iva Chondrocyte Culture Reveals Significant Impairments In The Lysosomal-Mitochondrial Crosstalk, Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes. Given the interactions of lysosomes with various intracellular organelles, it is not surprising that lysosomal dysfunction can lead to improper functioning of lysosome-interacting organelles such as mitochondria. Mitochondrial alterations have been evaluated in several LSDs; nevertheless, they have not been fully addressed in MPS IVA. In this study, we assessed the mitochondrial alterations in MPS IVA chondrocytes using a three-dimensional culture approach. Our findings revealed that MPS IVA …

Giving More Than Vision: The Evolution And Impact Of Give Kids Sight Day, Leah Prischak, Bs

inSIGHT

Current literature strongly suggests that quality of life is diminished in children with visual impairments.¹ In many situations, visual impairment (VI) can be a serious barrier in obtaining the typical experiences and accomplishments of childhood. Evidence suggests an association between visual acuity, refractive error, and child academic performance.² VI is also associated with the prevalence of more intangible, psychological obstacles in areas such as independence and autonomy, concerns about the future, social relationships, participation, and acceptance.³

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

Molecular Inflammatory Expression Profiles Associated With The Frequency Of Pain In Individuals With Sickle Cell Disease, Lana Mucalo Katunaric, Shuang Jia, Ashima Singh, Mark F. Roethle, Julie A. Panepinto, David C. Brousseau, Martin J. Hessner, Amanda M. Brandow

Department of Pediatrics Faculty Papers

Pain is the most common complication of sickle cell disease (SCD). The underlying biology of SCD pain is not well understood, which is a barrier to novel, effective analgesic and preventive therapies. A wide variability in the phenotypic expression of pain exists among individuals with SCD, despite the inheritance of a similar defective hemoglobin gene. This interindividual pain variability further complicates the ability to understand the biology and effectively treat pain. We sought to discover a biological signature comprising differentially expressed genes unique to SCD that could differentiate between individuals with varied pain frequency. We conducted plasma-induced transcription analysis from …

The Effect Of Coadministration Of D156844 And Ar42 (Rec-2282) On The Survival And Motor Phenotype Of Mice With Spinal Muscular Atrophy, Ashlee W. Harris, Rod C. Scott, Matthew E. R. Butchbach

Department of Pediatrics Faculty Papers

Spinal muscular atrophy (SMA) is characterized by degeneration of spinal motor neurons and is a leading genetic cause of pediatric death worldwide. SMA results from the loss of or pathological variant in the survival motor neuron 1 (SMN1) gene. Disease severity is dependent on the number of copies of the orthologous SMN2 gene, which is nearly identical to SMN1 except for some key nucleotide differences. As disease severity is inversely related to SMN2 copy number, most SMA therapeutics trials have focused on identifying ways to increase SMN2 expression at different levels of gene regulation. Other studies have investigated compounds which …

Injury And Illness: An Analysis Of Team Usa Athletes At The 2024 Winter Youth Olympic Games, Ashley N. Triplett, Eric G. Post, Travis Anderson, Olivia Samson, Alexis D. Gidley, Francisco Silva, Lea Thomann, Amber T. Donaldson, Jonathan T. Finnoff, Eric L. Dugan, Jeffrey S. Shilt, William M. Adams

Department of Pediatrics Faculty Papers

BACKGROUND: Injury and illness surveillance is essential for understanding the relative risks of sports participation to develop effective strategies to optimize athlete health, wellness, and performance. Epidemiological studies examining injuries and illnesses among Team USA youth athletes are limited, particularly among athletes competing in Winter sports. The purpose of this study was to characterize the injury and illness incidence rate among Team USA athletes participating in the 2024 Winter Youth Olympic Games (YOG).

METHODS: Injuries and illnesses among 101 Team USA youth athletes (40.6% female; age, 17 ± 1 years) were prospectively documented. Injury and illness prevalence, and incidence rate …

Integrase-Deficient Lentiviral Vector As A Platform For Efficient Crispr/Cas9-Mediated Gene Editing For Mucopolysaccharidosis Iva, Fnu Nidhi, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder causing systemic skeletal dysplasia due to a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS) enzyme activity, leading to the impaired degradation and accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate. While treatments such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available, they have significant limitations regarding efficacy in skeletal tissues and long-term safety, highlighting the need for more effective therapies. We evaluated a novel gene therapy approach using a dual Integrase-deficient lentiviral vector (IDLV) to deliver an expression cassette that includes human GALNS cDNA and Cas9 sgRNA, …

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking Into Cell-Free Therapies For Bone-Affected Lysosomal Storage Disorders, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal dysfunction. In some cases of LSDs, the bone is more severely affected, thus producing skeletal manifestations in patients. Current therapies, such as enzyme replacement therapy (ERT) and gene therapy (GT), show limited efficacy in correcting skeletal abnormalities. Increasing evidence suggests that microenvironmental disturbances also contribute significantly to disease pathogenesis. Therefore, therapeutic strategies targeting lysosomal dysfunction and microenvironmental dysregulation are needed. Mesenchymal stem-cell-derived extracellular vesicles (MSC-EVs) are emerging as …

Commentary On Quality Improvement Case Series: Leukemic Arthritis Mimicking Septic Arthritis In A Pediatric Patient, Alexandre Arkader, Mihir M Thacker, Karim Masrouha

Department of Medicine Faculty Papers

No abstract provided.

Factors Related To Hypertension In Pediatric Patients Who Do Not Have Obstructive Sleep Apnea: A Retrospective Chart Study, Alyssa Exarchakis, Alexandra Cohen, Penghao Wang, Seema Rani, Diana Martinez

Department of Medicine Faculty Papers

Background/Objectives: The relationship between OSA and adult hypertension has been extensively studied; however, it remains understudied in pediatric patients without OSA. The aim of this study is to identify factors associated with pediatric hypertension without OSA, through an IRB-approved retrospective chart review of patients who underwent polysomnography at Nemours Children's Hospital, DE/NJ between January 2020 and July 2023. Methods: Eligibility criteria included children 8-17 years, completed PSG, and clinic visit blood pressure (BP). Anthropometrics, demographics, social determinants, and medical history were obtained from electronic medical records. Hypertension was defined as the average systolic and/or diastolic BP that is …

Persistent Imbalance: Women’S Representation In North American Pediatric Cardiology Leadership Roles.Persistent Imbalance: Women’S Representation In North American Pediatric Cardiology Leadership Roles, Alaina K. Kipps, Audrey C. Marshall, Neha Bansal, Holly Bauser-Heaton, Nadine Choueiter, Devyani Chowdhury, Aarti Dalal, Molly Ehrlich, Lindsay R. Freud, Supriya S. Jain, Pei-Ni Jone, Kristin Laraja, Dalia Lopez-Colon, Sonal T. Owens, Christina Ronai, Ritu Sachdeva, Corey Stiver, Nicole Sutton, Terrie Vasilopoulos, Jennifer Co-Vu

Department of Pediatrics Faculty Papers

BACKGROUND: Despite recent gender parity of physicians entering pediatric cardiology, representation of women leaders lags their male colleagues.

OBJECTIVES: We sought to better understand the variation in women in leadership roles in pediatric cardiology.

METHODS: The gender of physicians in 16 prespecified leadership positions was collected by survey between July 2022 and January 2023 from pediatric cardiology programs with >5 cardiologists in North America. We analyzed the association of women leaders with center size (based on surgical volume), geographic region, presence of categorical fellowship program, and gender of division chief and department chair.

RESULTS: Across 99 centers, a median of …

In Vivo Direct Lentiviral Gene Therapy Improves Disease Pathology In A Mucopolysaccharidosis Iva Murine Model, Betul Celik, Estera Rintz, Shaukat Khan, Andrés F. Leal, Fnu Nidhi, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage. This results in progressive skeletal dysplasia, with no effective treatment available. Our study hypothesized that direct lentiviral vector (LV) gene therapy could produce active enzymes from transduced cells, impacting bone and cartilage lesions in MPS IVA. We developed LVs carrying the GALNS gene under three promoters: ubiquitous (CBh), collagen type II (COL2A1), and Mac-1 integrin subunit (CD11b). At the newborn stage and 4 weeks, Galns-knockout mice received intravenous injections at different doses (5 × 10^{9 …}

Evaluation Of Aav Vectors With Tissue-Specific Or Ubiquitous Promoters In A Mouse Model Of Mucopolysaccharidosis Type Iva, Shaukat A. Khan, Jose Victor Álvarez, F. N. U. Nidhi, Eliana Benincore-Florez, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia. Enzyme replacement therapy and hematopoietic stem cell transplantation are current treatment options but have limited impact on bone lesions. In this study, we investigated adeno-associated virus (AAV)8 or AAV9 vectors with liver-specific thyroxine-binding globulin or liver-specific promoter-a modification of hAAT (LSPX), liver-muscle tandem (LMTP), liver-bone tandem (LBTP), and ubiquitous cytomegalovirus early enhancer/chicken β-actin (CAG) promoters in MPS IVA mice to compare therapeutic efficacy on biochemical markers and bone pathology. All vectors …

Identification Of Surrogate Biomarkers For Mucopolysaccharidosis Type Iva, Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging. This study evaluated potential surrogate biomarkers, including N-terminal pro-C-type natriuretic peptide (NT-proCNP), collagen types I and II, mono-sulfated keratan sulfate (KS), di-sulfated KS, and chondroitin-6-sulfate (C6S), in blood and urine samples from 60 patients ranging from 1 to 62 years of age. NT-proCNP levels were significantly elevated in patients of all ages and negatively correlated with growth impairment, especially after 8 …

Prevalence Of Cardiovascular-Kidney-Metabolic Stages In Us Adolescents And Relationship To Social Determinants Of Health, Carissa M. Baker-Smith, Abigail M. Gauen, Lucia C. Petito, Sadiya S. Khan, Norrina B. Allen

Department of Pediatrics Faculty Papers

BACKGROUND: Risk factors for atherosclerotic cardiovascular disease begin in youth. Knowledge of the prevalence of cardio-kidney-metabolic (CKM) syndrome in adolescents and its risk factors is critical to understanding the cause of atherosclerotic cardiovascular disease risk burden.

METHODS: We conducted a cross-sectional analysis of the 2017 to 2020 US National Health and Nutrition Examination Survey data and determined the prevalence of each CKM stage in adolescents aged 12 to 18 years. We then assessed the relationship between the family income-to-poverty ratio, health insurance, routine health care access, food security, health behaviors, and CKM stage. We quantified associations between social factors, behaviors, …

Physiologically Based And Population Pharmacokinetic Modeling Of Midazolam In Children With Obesity Using Real-World Data, Sean Mccann, Victória E. Helfer, Stephen J. Balevic, William J. Muller, John N. Van Den Anker, Amira Al-Uzri, Marisa L. Meyer, Sarah G. Anderson, Sitora Turdalieva, Andrea N. Edginton, Daniel Gonzalez, Best Pharmaceuticals For Children Act Pediatric Trials Network Steering Committee

Department of Pediatrics Faculty Papers

Children represent a highly complex and variable population for treatment, including interindividual differences in drug dose-exposure. Midazolam has been used as a sedative for hospitalized children on- and off-label; however, factors affecting interindividual variability (IIV) in observed clearance for this population are not fully understood and can result in extreme under- or overexposure. Obesity has been described as a significant influence on midazolam in adolescents, which could potentially alter drug exposure. The goal of this study was to use two modeling strategies to evaluate dose-exposure of midazolam in children with and without obesity. Population pharmacokinetic modeling assessed whether measures of …

Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella

Abington Jefferson Health Papers

Vagus nerve stimulation (VNS) can be a highly effective treatment option for patients with drug resistant epilepsy. Notably, VNS has demonstrated side effects including a unique form of sleep disordered breathing known as vagus nerve stimulator associated sleep disordered breathing (VaS). However, the ways in which VaS interacts with seizure frequency is unknown. We report a case of a 28-year-old woman who presented to our department with complaints of worsening sleep quality 3 years following VNS implantation. Upon polysomnographic (PSG) evaluation, it was discovered that she suffered from VaS. The patient’s VNS output current was then down titrated during a …

Crispr/Ncas9-Edited Cd34+ Cells Rescue Mucopolysaccharidosis Iva Fibroblasts Phenotype, Angélica María Herreno-Pachón, Andrés Felipe Leal, Shaukat Khan, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis (MPS) IVA is a bone-affecting lysosomal storage disease (LSD) caused by impaired degradation of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S) due to deficient N-acetylgalactosamine-6-sulfatase (GALNS) enzyme activity. Previously, we successfully developed and validated a CRISPR/nCas9-based gene therapy (GT) to insert an expression cassette at the AAVS1 and ROSA26 loci in human MPS IVA fibroblasts and MPS IVA mice, respectively. In this study, we have extended our approach to evaluate the effectiveness of our CRISPR/nCas9-based GT in editing human CD34+ cells to mediate cross-correction of MPS IVA fibroblasts. CD34+ cells were electroporated with the CRISPR/nCas9 system, …

Association Between Maternal Hematologic Parameters And Risk Of Pregnancy Loss In Pregnancies Treated For Iron Deficiency Anemia, Simal Thind, Mbchb, Mph, Rupsa Boelig, Md, Mrutyunjaya B. Bellad, Md, Manjunath S. Sommannavar, Md, S. Yogeshkumar, Md, Benjamin Leidy, Phd, Rebecca Hartman, Mph, Zubair H. Aghai, Md, Praveen Patil, Phd, Chander Shekhar, Md, Umesh Y. Ramadurg, Md, Michael K. Georgieff, Md, Richard Derman, Md, Mph

Global Health Posters

Background

• Maternal iron deficiency anemia (IDA) is associated with an increased risk of infant complications including stillbirth, pregnancy loss, and low birthweight (LBW).
• It is unclear how treatment of maternal IDA can mitigate the infant related complications.

Use Of Procalcitonin In Therapeutic Decisions In The Pediatric Intensive Care Unit, Pierre Tissières, Elisabeth Esteban Torné, Johannes Hübner, Adrienne Randolph, Corsino Rey Galán, Scott Weiss

Department of Medicine Faculty Papers

Procalcitonin (PCT) is frequently used by clinicians in children with suspected bacterial infections and sepsis. However interpretation in the critically ill child may be challenging due to the complexity of underlying conditions and its impact on PCT values. Herein, we propose a guidance for the use of procalcitonin in critically ill children, supported by a comprehensive analysis of the literature, to help the clinician for interpreting PCT in the various clinical conditions encountered in pediatric intensive care units. We describe the importance of the clinical context, timing of measurement and evidence on PCT values in diagnosing sepsis and to guide …

Virtual Reality Respiratory Biofeedback In An Outpatient Pediatric Pain Rehabilitation Program: Mixed Methods Pilot Study, Kristin Recker, Julia Silliman, Karolina Gifford, Parth Patel, Lisgelia Santana, Aimee K. Hildenbrand, Shreela Palit, Rachel Wasserman

Department of Pediatrics Faculty Papers

BACKGROUND: Chronic pain in adolescents is a significant and growing concern, as it can have negative implications on physical and psychosocial development. Management can be complicated by the increasing risks associated with opioid misuse, highlighting the need for effective nonpharmacological interventions. Biofeedback is an empirically supported behavioral intervention for chronic pain that targets the self-regulation of physiological responses. Virtual reality (VR) is a novel delivery method for biofeedback that could serve as an engaging and effective platform for adolescents.

OBJECTIVE: The goal of this study was to assess the feasibility, acceptability, and preliminary effectiveness of integrating a VR-delivered respiratory biofeedback …

Vasoactive Selection For Pediatric Septic Shock-Where To Begin?, Scott L. Weiss

Department of Pediatrics Faculty Papers

No abstract provided.

Pediatric And Congenital Cardiac Services: An Innovative And Empowering Approach To Global Training And Equitable Care, Wyman W. Lai, Dominique Vervoort, David Bradley, Antonio G. Cabrera, Casey Culbertson, Alejandro Floh, Saurabh K. Gupta, Babar S. Hasan, Adrian Holloway, Jeffrey P. Jacobs, Kathy J. Jenkins, R. K. Kumar, L.A. Larrazabal, Colin J. Mcmahon, Daniel J. Penny, Alistair Phillips, Emilio Quezada, Craig A. Sable, Shubhika Srivastava, Sandra L. Staveski, Patcharapong Suntharos, David F. Teitel, Betsy Tirado, Brian C. Tran, Bistra Zheleva, Liesl Zuhkle, Anthony C. Chang

Division of Cardiology Faculty Papers

Congenital heart disease is a leading cause of preventable death in children, with a disproportionate impact on low- and middle-income countries. Despite progress in treating congenital heart disease globally, significant challenges remain in accessing specialized cardiovascular care, particularly cardiac surgery, in low- and middle-income countries. This review examines current models of assistance and proposes a novel global training program to address these inequities. Key challenges identified include building program infrastructure, training health care providers, ensuring financial sustainability, and promoting local engagement. The proposed program, structured under a new international organization, will leverage emerging technologies to deliver accessible and rigorously assessed …

Implementation & Evaluation Of A Neonatal Intensive Care Unit Transition To Early Intervention Program For High-Risk Infants: A Pilot Study, Erin Price, Otd, Otr/L, Cnt, Ntmtc, Amy Carroll Otd, Otr/L

Department of Occupational Therapy Posters and Presentations

Background

Advances in medicine have increased the survival rate of preterm infants. It is well documented that preterm infants have increased risk for developmental delays (Heiny et al., 2020; Pineda et al., 2020) . Additionally, after long stays in the NICU, families report anxiety and feeling unprepared to care for their fragile child at home (Cheong at al., 2020; Garfield et al., 2014; Aloysius et al., 2018; Lakshmanan et al., 2019) . Preterm infants have fewer developmental delays when enrolled in a program that fosters development of skills and provides caregiver education; however, there is often a 4-5 month gap …

Qtc Comparison Between Neonates At Risk For Neonatal Opioid Withdrawal Syndrome And Healthy Non-Opioid Exposed Neonates, Kevin Lam, Susan C.A. Adeniyi-Jones, Md, Gary Peltz, Walter K. Kraft

Department of Pharmacology, Physiology, and Cancer Biology Posters

Introduction

• While neonatal electrocardiograms (ECGs) are typically read, QTc can be difficult to assess due to immense variability within the first week of life
• In neonates with in utero opioid exposure, there was no difference in mean QTc between those receiving placebo or ondansetron for five days post-delivery in a clinical trial (NCT01965704)

Effect Of Testosterone Treatment During Puberty In Boys With Klinefelter Syndrome (The Tipy Study): Protocol For A Nationwide Randomised, Double-Blinded, Placebo-Controlled Study, Ida Dyhr Caspersen, Andrés Felipe Østergaard Fritzbøger, Jørgen Holm Petersen, Niels Birkebæk, Ann-Margrethe Rønholt Christensen, Anders Jørgen Schou, Kurt Kristensen, Judith L. Ross, Shanlee Davis, Gary Butler, Sophie Van Rijn, Anders Juul, Lise Aksglaede

Department of Pediatrics Faculty Papers

INTRODUCTION: Klinefelter syndrome (KS) is a genetic condition characterised by the presence of an extra X chromosome in males (47,XXY). KS is associated with various phenotypic characteristics in adult life, including infertility, hypogonadism and increased risk of type II diabetes, cardiovascular disease and osteoporosis. Additionally, individuals with KS often experience mental health challenges and functional impairments that significantly impact their quality of life. Currently, testosterone replacement therapy (TRT) in adolescence is considered the first-line treatment by some physicians for patients with KS and biochemical signs of hypogonadism. However, comprehensive evidence on its effectiveness in preventing typical phenotypic traits associated with …