Expanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.

Introduction: Open-lip-type schizencephaly is characterized by trans-cerebral clefts filled with cerebrospinal fluid (CSF) between the subarachnoid space at the hemisphere surface and the lateral ventricles. Disorders related to CSF retention, including hydrocephalus and arachnoid cysts, have reportedly been associated with open-lip schizencephaly and have induced intracranial hypertension in some cases. However, detailed neuroimaging and surgical treatment findings have rarely been described.

TRPV4-mediated Ca deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

Mutations in the gene encoding the transient receptor potential vanilloid member 4 (TRPV4), a Ca permeable nonselective cation channel, cause TRPV4-related disorders. TRPV4 is widely expressed in the brain; however, the pathogenesis underlying TRPV4-mediated Ca deregulation in neurodevelopment remains unresolved and an effective therapeutic strategy remains to be established. These issues were addressed by isolating mutant dental pulp stem cells from a tooth donated by a child diagnosed with metatropic dysplasia with neurodevelopmental comorbidities caused by a gain-of-function TRPV4 mutation, c.

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.

Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years.

Methylidyne Adsorption on Pt(211) Probed by Reflection Absorption Infrared Spectroscopy (RAIRS).

Methylidyne, CH(ads), adsorbed on a Pt(211) surface and its interaction with chemisorbed hydrogen atoms was studied by reflection absorption infrared spectroscopy (RAIRS). Methylidyne was formed on Pt(211) by methane dissociation from a molecular beam followed by thermal decomposition of the methane dissociation products. CH(ads) was detected by RAIRS via its symmetric C-H stretch vibration resulting in three discrete absorption peaks in the region of 2950-2970 cm.