Cerebral air embolism in pediatric patients undergoing cardiac surgery.

Objective: Cerebral air embolism during Cardio-Pulmonary Bypass is a severe complication with significant neurological risks. We present six pediatric cases, detailing their presentation, management, and outcomes. The discussion reviews existing literature and proposes management guidelines for suspected air emboli.

Association between White Matter T2 Hyper-Intense Signals in Fetal Brain Magnetic Resonance Imaging and Neurodevelopment of Fetuses with Cytomegalovirus Infection.

An association between subtle changes in T2 white matter hyper-intense signals (WMHSs) detected in fetal brain magnetic resonance imaging (fbMRI) and congenital cytomegalovirus (CMV) infection has been established. The research aim of this study is to compare children with congenital CMV infection with neurodevelopment outcome and hearing deficit with and without WMHSs in a historic prospective case study cohort of 58 fbMRIs. Of these, in 37 cases, fbMRI was normal (normal group) and WMHSs were detected in 21 cases (WMHS group).

Exploring the Possible Role of Cannabinoids in Managing Post-cardiac Surgery Complications: A Narrative Review of Preclinical Evidence and a Call for Future Research Directions.

Open-heart surgery with cardiopulmonary bypass often leads to complications including pain, systemic inflammation, and organ damage. Traditionally managed with opioids, these pain relief methods bring potential long-term risks, prompting the exploration of alternative treatments. The legalization of cannabis in various regions has reignited interest in cannabinoids, such as cannabidiol, known for their anti-inflammatory, analgesic, and neuroprotective properties.

The association between fetal intracranial hemorrhages detected on MRI and neurodevelopment.

Purpose: Fetal intracranial hemorrhage is rarely identified in prenatal imaging. When identified, sparse data regarding neurodevelopmental outcomes worsens prenatal dilemmas. This MRI-based study aimed to assess prenatal characteristics and neurodevelopmental outcomes of fetal intracranial hemorrhage.

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase that regulates numerous biological processes. PPP2R1A encodes the scaffolding "Aα" subunit of PP2A. To date, nearly 40 patients have been previously reported with 19 different pathogenic PPP2R1A variants, with phenotypes including intellectual disability, developmental delay, epilepsy, infant agenesis/dysgenesis of the corpus callosum, and dysmorphic features.

Felbamate for pediatric epilepsy-should we keep on using it as the last resort?

Introduction: Concerns regarding felbamate adverse effects restrict its widespread use in children with drug-resistant epilepsy. We aimed to examine the efficacy and safety of felbamate in those children and identify the ones who may benefit most from its use.

Methods: We retrospectively reviewed the medical files of all patients who were treated with felbamate in a tertiary pediatric epilepsy clinic between 2009-2021.

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.

Background: Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy. Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating neuropathy, most commonly caused by a 17p11.

Quantitative and qualitative analysis of fetal temporal lobe T2 signal in cytomegalovirus infected fetuses and normal controls.

Background: Temporal lobe T2 hyperintensity has been described in association with prenatal cytomegalovirus (CMV) infection on fetal MRI. However, these findings are often perplexing with high inter-observer variability. Our objective was to evaluate temporal lobe T2 signal quantitatively in prenatal CMV infection.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018-2020).

The added value of third trimester fetal brain MRI in cases of isolated ventriculomegaly.

Objectives: To assess the added value of third trimester fetal brain MRI, performed in one tertiary referral center, in cases of isolated ventriculomegaly as established by a dedicated multiplanar neurosonography.

Methods: Fetal brain MRI scans performed in a single tertiary center during a 3-year period were assessed for possible inclusion. Only cases diagnosed with ventriculomegaly without additional findings in a neurosonography preceding the MRI were included.

MiRNA-124a: a Potential Biomarker for Neurological Deficits Following Cardiac Surgery in Pediatric Patients.

Brain injury is a major source of patient morbidity after cardiac surgery in children. New early accurate biomarkers are needed for the diagnosis of patients at risk for cerebral postoperative damage. Specific circulating miRNAs have been found as suitable biomarkers for many diseases.

The Significance of Fetal Brain Ventricular Asymmetry Without Dilation.

Objectives: Fetal brain non-dilated ventricular asymmetry (NDVA) is a common finding on prenatal ultrasound exams. However, the optimal prenatal management in these cases remains unknown. We aimed to evaluate the benefit of prenatal genetic and magnetic resonance imaging (MRI) exams performed in cases of fetal NDVA detected on ultrasound.

The normal fetal Cavum Septum Pellucidum in MR imaging - New biometric data.

Background And Purpose: The cavum septum pellucidum (CSP) is an important landmark in the evaluation of the fetal neural axis. A deviation from the ultrasonic normal values may be associated with unfavorable outcomes, and a normal CSP provides reassurance of normal central forebrain development. Today, there is biometric data regarding the normal values for the width of the CSP in fetal ultrasound, but there is no such data for fetal MRI.

Chromosomal Microarray Evaluation of Fetal Ventriculomegaly.

Background: Fetal ventriculomegaly is one of the more common fetal anomalies detected during prenatal screening.

Objectives: To assess the rate of genetic aberrations as the cause for ventriculomegaly in these fetuses.

Methods: A historic cohort study was conducted on 164 fetuses with sonographic diagnosis of ventriculomegaly.

Preoperative miRNA-208a as a Predictor of Postoperative Complications in Children with Congenital Heart Disease Undergoing Heart Surgery.

Major perioperative cardiovascular events are important causes of morbidity in pediatric patients with congenital heart disease who undergo reparative surgery. Current preoperative clinical risk assessment strategies have poor accuracy for identifying patients who will sustain adverse events following heart surgery. There is an ongoing need to integrate clinical variables with novel technology and biomarkers to accurately predict outcome following pediatric heart surgery.

Treatment with brivaracetam in children - The experience of a pediatric epilepsy center.

Introduction: The new anticonvulsant brivaracetam is a levetiracetam analog which binds to the synaptic vesicle protein 2A, and inhibits excitatory neurotransmitters' release. Brivaracetam was Food and Drug Administration (FDA) and European Medicine Agency (EMA) approved in 2016 as adjunctive treatment for focal onset seizures in patients over 16 years of age, and in 2018 for children over four years of age. Our aim was to describe effectiveness and tolerability in real-life pediatric epilepsy clinic.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE).

Neurodevelopmental outcome following prenatal diagnosis of a short corpus callosum.

Objective: Data regarding the neurodevelopmental outcome of fetal short corpus callosum (CC) diagnosed according to standard reference charts is scarce. The purpose of this study was to assess whether the finding is related to neurodevelopmental delay, and to examine reclassification to normal fetal CC length using CC length/EFW ratio.

Method: Historical prospective cohort study including pregnant women who were referred for fetal neurosonogram due to abnormal CC.