Neurocognitive and Psychological Outcomes in Adults With Dextro-Transposition of the Great Arteries Corrected by the Arterial Switch Operation.

Background: Neurodevelopmental impairments have frequently been described in children and adolescents with dextro-transposition of the great arteries (d-TGA). The arterial switch operation (ASO) to correct d-TGA has been used for more than 30 years, and more than 90% of these patients now reach adulthood. However, very little is known about their long-term functional outcomes.

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.

Estimating pressure gradients by auscultation: How technology (echocardiography) can help improve clinical skills.

Aim: To extend our previously-published experience in estimating pressure gradients (PG) physical examination in a large patient cohort.

Methods: From January 1, 1997 through December 31, 2009, an attending pediatric cardiologist compared clinical examination (EXAM) with Doppler-echo (ECHO), in 1193 patients with pulmonic stenosis (PS, including tetralogy of Fallot), aortic stenosis (AS), and ventricular septal defect (VSD). EXAM PG estimates were based primarily on a murmur's pitch, grade, and length.

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.

Safety Threats During the Care of Infants with Hypoglycemic Seizures in the Emergency Department: A Multicenter, Simulation-Based Prospective Cohort Study.

Background: Errors in the timely diagnosis and treatment of infants with hypoglycemic seizures can lead to significant patient harm. It is challenging to precisely measure medical errors that occur during high-stakes/low-frequency events. Simulation can be used to assess risk and identify errors.

Surfactant and continuous positive airway pressure for the prevention of chronic lung disease: History, reality, and new challenges.

The discovery of surfactant was one of the most significant research events to occur in the history of neonatology. Certainly, surfactant saved lives for premature infants who were otherwise considered non-viable. However, the prevention of chronic lung disease did not progress and it became clear that a significant portion of the help surfactant provides to the premature lung is counteracted by mechanical ventilation.

Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.

Objective: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis.

Study Design: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample.

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.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified mutations in 50% of patients with CM-AVM.

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.

Causes for Pauses During Simulated Pediatric Cardiac Arrest.

Objectives: Pauses in cardiopulmonary resuscitation negatively impact clinical outcomes; however, little is known about the contributing factors. The objective of this study is to determine the frequency, duration, and causes for pauses during cardiac arrest.

Design: This is a secondary analysis of video data collected from a prospective multicenter trial.

Drug-Coated Balloon Angioplasty: A Novel Treatment for Pulmonary Artery In-Stent Stenosis in a Patient with Williams Syndrome.

A 20-month-old boy with Williams syndrome had undergone multiple surgical and catheter-based interventions for resistant peripheral pulmonary arterial stenoses with eventual bilateral stent placement and conventional balloon angioplasty. He persistently developed suprasystemic right ventricular (RV) pressure. Angioplasty with a drug-coated balloon (DCB) was performed for in-stent restenosis and to remodel his distal pulmonary vessels bilaterally.

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.

Pediatric portal hypertension: A review for primary care.

Pediatric portal hypertension management is a team approach between the patient, the patient's family, the primary caregiver, and specialty providers. Evidence-based practice guidelines have not been established in pediatrics. This article serves as a review for the primary care NP in the management of pediatric portal hypertension, discussing the etiology, pathophysiology, and clinical presentation of pediatric portal hypertension, diagnostic tests, and treatment and management options.

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.