Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

The association between 1p32-p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly, developmental delay, seizures, and dysmorphic features has been long recognized and described. Recently, the observation of overlapping phenotypes in patients with chromosome translocations that disrupt NFIA (Nuclear factor I/A), a gene within this deleted region, and NFIA intragenic deletions has led to the hypothesis that NFIA is a critical gene within this region. The wide application and increasing accessibility of whole exome sequencing (WES) has helped identify new cases to support this hypothesis.

Management of Supraventricular Tachycardia in Infants.

Supraventricular tachycardia is the most common tachyarrhythmia encountered in infants. In older children and adults, definitive treatment of the supraventricular tachycardia substrate with catheter ablation is a common approach to management. However, in infants, the risks of catheter ablation are significantly higher, and the patients often outgrow the potential to experience episodes.

Acute and Midterm Outcomes of Transcatheter Pulmonary Valve Replacement for Treatment of Dysfunctional Left Ventricular Outflow Tract Conduits in Patients With Aortopulmonary Transposition and a Systemic Right Ventricle.

Background: Transcatheter pulmonary valve replacement (TPVR) is an established therapy for dysfunctional right ventricular (RV) outflow tract conduits. TPVR in patients with congenitally corrected transposition of the great arteries, subpulmonary left ventricle, and left ventricular outflow tract (LVOT) conduit dysfunction has not been studied. Unique anatomic and physiological aspects of this population may contribute to distinct risks and outcomes.

Utilisation of early intervention services in young children with hypoplastic left heart syndrome.

Objective: Children with hypoplastic left heart syndrome are at a risk for neurodevelopmental delays. Current guidelines recommend systematic evaluation and management of neurodevelopmental outcomes with referral for early intervention services. The Single Ventricle Reconstruction Trial represents the largest cohort of children with hypoplastic left heart syndrome ever assembled.

Safety of hematopoietic cell infusion in children with malignant and non-malignant diseases.

HPC infusions have been associated with a variety of adverse events related to either patient or HPC product-related factors. Studies documenting infusion-related AEs in children are limited. We reviewed HPC infusion records in 354 children.

Portopulmonary hypertension in children: a rare but potentially lethal and under-recognized disease.

Portopulmonary hypertension (PoPH) is defined by the combination of portal hypertension and precapillary pulmonary arterial hypertension (PAH). Very little is known about this process in pediatric patients but prognosis is generally poor. We review our institutional experience and report on five patients with pediatric PoPH.

Primary Pulmonary Vein Stenosis: Outcomes, Risk Factors, and Severity Score in a Multicentric Study.

Background: Primary pulmonary vein stenosis (PPVS) still carries a poor prognosis, and prognostic factors remain controversial. The aim of this study was to determine outcomes and prognostic factors after PPVS repair in the current era.

Methods: Thirty patients with PPVS and a normal pulmonary vein (PV) connection operated on in 10 European/North American centers (2000-2012) were included retrospectively.

Overactive bladder (OAB): A symptom in search of a disease - Its relationship to specific lower urinary tract symptoms and conditions.

Background: The ICCS defines OAB by the subjective symptom of urgency; detrusor overactivity (DO) is only implied. While no other symptom is required, OAB can also be associated with urinary frequency, decreased functional bladder capacity, and incontinence.

Objective: We sought to determine how often these associated findings occur in OAB and what if any uroflow/EMG-defined conditions are found to be associated with it.

Outcomes and Prognostic Factors for Adult Patients With Congenital Heart Disease Undergoing Primary or Reoperative Systemic Atrioventricular Valve Surgery.

Background: Adults with congenital heart disease (ACHD) undergoing systemic atrioventricular valve (SAVV) surgery are a complex, understudied population. We assessed midterm outcomes and prognostic factors in ACHD undergoing SAVV surgery.

Methods: We performed retrospective evaluation of ACHD undergoing SAVV surgery from January 2005 to February 2016: 14 (33%) patients with congenital mitral valve stenosis/regurgitation, 15 (35%) with atrioventricular septal defect (AVSD), and 14 (33%) with congenitally corrected transposition of the great arteries (ccTGA) with systemic tricuspid valve regurgitation.

Alterations in Glucose Effectiveness and Insulin Dynamics: Polycystic Ovary Syndrome or Body Mass Index.

Background/aims: To delineate the relationship of polycystic ovary syndrome (PCOS), obesity, and hyperandrogenism (HA) with glucose and insulin dynamics in adolescents across a broad body mass index (BMI).

Methods: Seventy-four PCOS subjects (aged 16 years) and 82 controls (aged 16 years) were evaluated by an oral glucose tolerance test. Subjects were categorized by BMI: normal weight (21 ± 0.

Cognitive outcomes and health-related quality of life in adults two decades after the arterial switch operation for transposition of the great arteries.

Objective: The study objective was to evaluate the cognitive and psychosocial outcomes of young adults who underwent an arterial switch operation for transposition of the great arteries.

Methods: Sixty-seven adults with transposition of the great arteries (aged 22.9 ± 3.

Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review.

Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes.

Application of the Pediatric Appropriate Use Criteria for Chest Pain.

Objectives: To characterize the subgroup of outpatient pediatric patients presenting with chest pain and to determine the effectiveness of published pediatric appropriate use criteria (PAUC) to detect pathology.

Study Design: The Pediatric Appropriate Use of Echocardiography study evaluated the use and yield of transthoracic echocardiography (TTE) before and after PAUC release. Data were reviewed on patients ?18 years of age who underwent TTE for chest pain.

Centrifugal pumps and hemolysis in pediatric extracorporeal membrane oxygenation (ECMO) patients: An analysis of Extracorporeal Life Support Organization (ELSO) registry data.

Purpose: It is currently unclear whether centrifugal pumps cause more hemolysis than roller pumps in extracorporeal membrane oxygenation (ECMO) circuits. The aim of this study was to help answer that question in pediatric patients.

Methods: A limited deidentified data set was extracted from the international multicenter Extracorporeal Life Support Organization (ELSO) registry comprising all reported ECMO runs for patients 18years or younger between 2010 and 2015.

Precision Medicine With Point-of-Care Ultrasound: The Future of Personalized Pediatric Emergency Care.

The Precision Medicine Initiative spearheaded by the National Institute of Health has pioneered a new model of health care focused on health care delivery that is tailored to an individual. Medical advances have already provided clinicians with the tools to better predict treatment outcomes based on the individual needs of each patient's disease process. Three-dimensional printing allows medical devices and implants to be custom made-to-order.

Application of pediatric appropriate use criteria for initial outpatient evaluation of syncope.

Background: Syncope is a common reason for outpatient transthoracic echocardiography (TTE). We studied the applicability of pediatric appropriate use criteria (AUC) on initial outpatient evaluation of children (≤18 years) with syncope.

Methods: Data were obtained before (Phase I, April-September 2014) and after (Phase II, January-April 2015) the release of the AUC document from six participating pediatric cardiology centers.

Routine Use of Distal Arterial Perfusion in Pediatric Femoral Venoarterial Extracorporeal Membrane Oxygenation.

Lower-extremity ischemia is a significant complication in children on femoral venoarterial extracorporeal membrane oxygenation (VA ECMO). Our institution currently routinely uses distal perfusion catheters (DPCs) in all femoral arterial cannulations in attempts to reduce ischemia. We performed a single-center, retrospective review of pediatric patients supported with femoral VA ECMO from January 2005 to November 2015.

Multimodality Cardiac Imaging in a Patient with Kawasaki Disease and Giant Aneurysms.

Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG) treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries.

In Children With Nonalcoholic Fatty Liver Disease, Cysteamine Bitartrate Delayed Release Improves Liver Enzymes but Does Not Reduce Disease Activity Scores.

Background & Aims: No treatment for nonalcoholic fatty liver disease (NAFLD) has been approved by regulatory agencies. We performed a randomized controlled trial to determine whether 52 weeks of cysteamine bitartrate delayed release (CBDR) reduces the severity of liver disease in children with NAFLD.

Methods: We performed a double-masked trial of 169 children with NAFLD activity scores of 4 or higher at 10 centers.

Screening residents for infant lumbar puncture readiness with just-in-time simulation-based assessments.

Background: Determining when to entrust trainees to perform procedures is fundamental to patient safety and competency development.

Objective: To determine whether simulation-based readiness assessments of first year residents immediately prior to their first supervised infant lumbar punctures (LPs) are associated with success.

Methods: This prospective cohort study enrolled paediatric and other first year residents who perform LPs at 35 academic hospitals from 2012 to 2014.

Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting : Toronto, Canada. 14-17 April 2016.

P1 Serologic evidence of gut-driven systemic inflammation in juvenile idiopathic arthritis Lampros Fotis, Nur Shaikh, Kevin Baszis, Anthony French, Phillip Tarr P2 Oral health and anti-citrullinated peptide antibodies (ACPA) in juvenile idiopathic arthritis Sriharsha Grevich, Peggy Lee, Sarah Ringold, Brian Leroux, Hannah Leahey, Megan Yuasa, Jessica Foster, Jeremy Sokolove, Lauren Lahey, William Robinson, Joshua Newsom, Anne Stevens P3 Novel autoantigens for endothelial cell antibodies in pediatric rheumatic diseases identified by proteomics Rie Karasawa, Mayumi Tamaki, Megumi Tanaka, Toshiko Sato, Kazuo Yudoh, James N. Jarvis P4 Transcriptional profiling reveals monocyte signature associated with JIA patient poor response to methotrexate Halima Moncrieffe, Mark F. Bennett, Monica Tsoras, Lorie Luyrink, Huan Xu, Sampath Prahalad, Paula Morris, Jason Dare, Peter A.

Is Endomyocardial Biopsy a Safe and Useful Procedure in Children with Suspected Cardiomyopathy?

Endomyocardial biopsy (EMB) is a common procedure used to aid in the diagnosis, prognosis and treatment of suspected pediatric cardiomyopathy. In suspected cardiomyopathy, no multicenter experience has previously reported on the safety and utility of EMBs. Retrospectively, adverse event (AE) and patient and procedural characteristics were obtained at seven institutions participating in the Congenital Cardiac Catheterization Outcomes Project for both a cardiomyopathy (n = 158) and a post-transplant surveillance (n = 2665) cohort.