[Percutaneous management of pulmonary atresia with intact ventricular septum and critical pulmonary stenosis].

Introduction: Pulmonary atresia with intact ventricular septum and critical pulmonary stenosis in newborns encompasses a wide spectrum of disease, including cases with significant right ventricular hypoplasia and coronary artery to right ventricle fistulae, which may be considered a contraindication for decompression of the right ventricle. The aim of this study was to review the middle- and long-term outcomes of these patients over 20 years and identify differential factors between both groups, including patients with coronary artery fistulae.

Patients And Methods: We performed a descriptive retrospective study by identifying all patients that received a diagnosis of pulmonary atresia with intact ventricular septum and critical pulmonary stenosis between January 1996 and January 2018.

Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.

Purpose: Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC).

Methods: We developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age.

Fetuses with single ventricle congenital heart disease manifest impairment of regional brain growth.

Objective: Anomalous neurological development associated with congenital heart disease (CHD) has been reported as early as third trimester of fetal development. While several studies have characterized variations in CHD neurodevelopmental outcomes in early childhood, these reports are often confounded by postnatal factors such as surgical outcome. Recent studies have focused on the comparing neurological variations between fetuses with CHD and normal controls.

Survival and Long-Term Functional Outcomes for Children With Cardiac Arrest Treated With Extracorporeal Cardiopulmonary Resuscitation.

Objectives: To identify patient- and disease-related factors related to survival and favorable outcomes for children who underwent extracorporeal cardiopulmonary resuscitation after a refractory cardiac arrest.

Design: Retrospective observational study with prospective assessment of long-term functional outcome.

Patients: Fifty-six consecutive children undergoing extracorporeal cardiopulmonary resuscitation at our institution from 2007 to 2015.

New surgical technique for creation of a continent appendicostomy: Invaginated appendicostomy.

Introduction: The main complications of appendicostomy are stenosis and stomal fecal leakage. Although many authors report that the appendix is naturally continent, it is recommended to perform a plication of the cecum with the appendix to prevent stomal fecal leakage. We present here the creation of a different continent mechanism.

Identification of intestinal ion transport defects in microvillus inclusion disease.

Loss of function mutations in the actin motor myosin Vb (Myo5b) lead to microvillus inclusion disease (MVID) and death in newborns and children. MVID results in secretory diarrhea, brush border (BB) defects, villus atrophy, and microvillus inclusions (MVIs) in enterocytes. How loss of Myo5b results in increased stool loss of chloride (Cl(-)) and sodium (Na(+)) is unknown.

Recommended Curriculum for Training in Pediatric Transplant Infectious Diseases.

A working group representing the American Society of Transplantation, Pediatric Infectious Diseases Society, and International Pediatric Transplant Association has developed a collaborative effort to identify and develop core knowledge in pediatric transplant infectious diseases. Guidance for patient care environments for training and core competencies is included to help facilitate training directed at improving the experience for pediatric infectious diseases trainees and practitioners in the area of pediatric transplant infectious diseases.

Unexpected megarectum: A potential hidden source of complications in patients with anorectal malformation.

Background: Primary posterior sagittal anorectoplasty is recommended to repair anorectal malformations with rectoperineal or rectovestibular fistula. The aim of this study was to identify the impact of the presence of megarectum on the relative frequency of complications related to posterior sagittal anorectoplasty.

Methods: We performed a cross-sectional retrospective study including patients with anorectal malformation, preoperative rectogram and surgically treated with primary or staged posterior sagittal anorectoplasty.

Portal hypertension in children and young adults with biliary atresia.

Objective: Biliary atresia (BA) frequently results in portal hypertension (PHT), complications of which lead to significant morbidity and mortality. The Childhood Liver Disease Research and Education Network was used to perform a cross-sectional multicentered analysis of PHT in children with BA.

Methods: Subjects with BA receiving medical management at a Childhood Liver Disease Research and Education Network site were enrolled.

Efficacy of fat-soluble vitamin supplementation in infants with biliary atresia.

Objective: Cholestasis predisposes to fat-soluble vitamin (FSV) deficiencies. A liquid multiple FSV preparation made with tocopheryl polyethylene glycol-1000 succinate (TPGS) is frequently used in infants with biliary atresia (BA) because of ease of administration and presumed efficacy. In this prospective multicenter study, we assessed the prevalence of FSV deficiency in infants with BA who received this FSV/TPGS preparation.