Clarifying the Ethics and Oversight of Chimeric Research.

This article is the lead piece in a special report that presents the results of a bioethical investigation into chimeric research, which involves the insertion of human cells into nonhuman animals and nonhuman animal embryos, including into their brains. Rapid scientific developments in this field may advance knowledge and could lead to new therapies for humans. They also reveal the conceptual, ethical, and procedural limitations of existing ethics guidance for human-nonhuman chimeric research.

Expanding the neurodevelopmental phenotype of PURA syndrome.

PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals.

Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism.

Background: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD).

exposures to environmental organic pollutants disrupt epigenetic marks linked to fetoplacental development.

While the developing fetus is largely shielded from the external environment through the protective barrier provided by the placenta, it is increasingly appreciated that environmental agents are able to cross and even accumulate in this vital organ for fetal development. To examine the potential influence of environmental pollutants on the placenta, we assessed the relationship between polybrominated diphenyl ethers (PBDEs), polychlorinated biphenyls (PCBs), 1,1-dichloro-2,2-bis(p-chlorophenyl) ethylene (DDE) and several epigenetic marks linked to fetoplacental development. We measured / imprint control region methylation, and expression, loss of imprinting (LOI) and global DNA methylation levels in placenta ( = 116) collected in a formative research project of the National Children's Study to explore the relationship between these epigenetic marks and the selected organic environmental pollutants.

Shear Wave Elastography in the Living, Perfused, Post-Delivery Placenta.

The placenta is the critical interface between the mother and the developing fetus and is essential for survival and growth. Despite the widespread use of ultrasound imaging and Doppler in obstetrics and gynecology and the recent growth of elastographic technologies, little is known about the biomechanical (elastic shear wave) properties of the placenta and the range of normal and pathologic parameters that are present. This study uses a well-developed protocol for perfusing whole placentas, post-delivery, to maintain tissue integrity and function for hours.