Neonatal hemodynamics of recipient twins after fetoscopic selective laser coagulation for twin-to-twin transfusion syndrome: An unicist classification.

To characterize the neonatal hemodynamic profiles in recipients born after twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic selective laser coagulation (FSLC). Retrospective analysis during the first month of life of recipient twins. Of the 480 newborns born during an 11-year period, 138 recipient twins with prenatal FSLC were classified into four groups: no hemodynamic impairment (NoHI, n = 102, 74%), isolated high blood pressure (HighBP, n = 18, 13%), right ventricular outflow tract obstruction (RVOTO, n = 10, 7%), and cardiac failure (CF, n = 8, 6%).

Clinical benchmarking of a commercial software for skin dose estimation in cardiac, abdominal, and neurology interventional procedures.

Background: Radiation exposure from interventional radiology (IR) could lead to potential risk of skin injury in patients. Several dose monitoring software like radiation dose monitor (RDM) were developed to estimate the patient skin dose (PSD) distribution in IR.

Purpose: This study benchmarked the accuracy of RDM software in estimating PSD as compared to GafChromic film baseline in-vivo measurements on patients during cardiac, abdominal, and neurology IR procedures.

Monochorionic twins with discordant trisomy 21, another case to remind this uncommon condition and how to deal with.

Monozygotic twins discordant for trisomy 21 are rare. We present the twelfth reported case of this uncommon condition undergoing invasive prenatal diagnosis. Dealing with discordant fetal anomalies in monochorionic pregnancy can be challenging for physicians and patients; pros and cons of different invasive procedure options must be discussed with the couple, contending with certain specific peculiarities of this type of pregnancy.

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.

Dynein heavy chain (DYNC1H1) mutations can either lead to severe cerebral cortical malformations, or alternatively may be associated with the development of spinal muscular atrophy with lower extremity predominance (SMA-LED). To assess the origin of such differences, we studied a new Dync1h1 knock-in mouse carrying the cortical malformation p.Lys3334Asn mutation.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

Neonatal Hemodynamic Characteristics of the Recipient Twin of Twin-To-Twin Transfusion Syndrome Not Treated with Fetoscopic Laser Surgery.

Background: This paper’s intent is to describe the neonatal hemodynamic characteristics of recipient twins of monochorionic pregnancies complicated with twin-to-twin transfusion syndrome (TTTS), born without prenatal fetoscopic selective laser coagulation (FSLC). Methods: Retrospective analysis of hemodynamic characteristics was performed during the first five days of life of recipient twins from untreated TTTS. Results: Forty-two recipient twins were included and divided into three groups: no hemodynamic impairment (NoHI) (n = 15, 36%), isolated high blood pressure (HighBP) (n = 12, 28%), and cardiac failure group (CF) (n = 15, 36%).

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Subcortical heterotopias are malformations associated with epilepsy and intellectual disability, characterized by the presence of ectopic neurons in the white matter. Mouse and human heterotopia mutations were identified in the microtubule-binding protein Echinoderm microtubule-associated protein-like 1, EML1. Further exploring pathological mechanisms, we identified a patient with an EML1-like phenotype and a novel genetic variation in DLGAP4.

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Apical radial glia (aRGs) are predominant progenitors during corticogenesis. Perturbing their function leads to cortical malformations, including subcortical heterotopia (SH), characterized by the presence of neurons below the cortex. EML1/Eml1 mutations lead to SH in patients, as well as to heterotopic cortex (HeCo) mutant mice.

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

The advent of next generation sequencing has improved gene discovery in neurodevelopmental disorders. A greater understanding of the genetic basis of these disorders has expanded the spectrum of pathogenic genes, thus enhancing diagnosis and therapeutic management. Genetic overlap between distinct neurodevelopmental disorders has also been revealed, which can make determining a strict genotype-phenotype correlation more difficult.

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (SD) below the mean. Many postnatal microcephaly syndromes are caused by mutations in genes known to be important for the regulation of gene expression in the developing forebrain. We studied a consanguineous Pakistani family with postnatal microcephaly, orofacial dyskinesia, spastic quadriplegia and, on MRI, cortical atrophy with myelination delay, suggestive of a FOXG1-like presentation.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the recent identification of six genes involved in microlissencephaly, the pathophysiological basis of this condition remains poorly understood.

Perspectives in neonatal and childhood arterial ischemic stroke.

Over the last decade considerable advances have been made in the identification, understanding and management of pediatric arterial ischemic stroke. Such increasing knowledge has also brought new perspectives and interrogations in the current acute and rehabilitative care of these patients. Areas covered: In developed countries, focal cerebral arteriopathy is one of the most common causes of arterial ischemic stroke in childhood and imaging features are well characterized.