Abstract Introduction Narcolepsy type 1 (NT1) is associated with frequent sleep stage transitions during nocturnal sleep. In this study, we report the pattern of that occurs and its relationship to CSF-orexin levels among pediatric NT1 patients. Furthermore, study patterns in patients Type 2 (NT2) Idiopathic Hypersomnia (IH). Methods We conducted a retrospective, cross-sectional polysomnograms ...

The excitotoxic response of NT2-N cells, a clonal line of human teratocarcinoma cells that are terminally differentiated into neuron-like cells, was examined using several endpoints. A 15 min exposure to glutamate produced a dose-dependent toxicity with a maximal cell loss of 80-90% in 6 week old cells. The rapidly triggered excitotoxicity induced by glutamate was blocked by NMDA selective anta...

Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to be required for mitochondrial DNA (mtDNA) maintenance. For example, Ilv5 is r...

Thyroid hormones are essential for the normal growth and development of the fetus, and even small alterations in maternal thyroid hormone status during early pregnancy may be associated with neurodevelopmental abnormalities in childhood. Mutations in the novel and specific thyroid hormone transporter monocarboxylate transporter 8 (MCT8) have been associated with severe neurodevelopmental impair...

BACKGROUND MicroRNAs (miRNAs) play pivotal roles in spermatogenesis. MicroRNA-210 (miR-210) expression was up-regulated in the testes of sterile men with non-obstructive azoospermia (NOA). However, the underlying mechanisms of miR-210 involved in the spermatogenesis in patients with NOA are unknown. MATERIAL AND METHODS Expression of miR-210 and insulin-like growth factor II (IGF2) in the teste...

Abstract Introduction Postural orthostatic tachycardia syndrome (POTS) is a clinical of dysautonomia associated with an excessive increase in heart rate following shift to standing posture. As 2019, POTS has prevalence 1-3 million (0.3-0.9%) the United States. Narcolepsy chronic neurologic condition persistent hypersomnolence irrespective total sleep time that also REM-sleep dissociative featur...

In-frame missense and splicing mutations (resulting in a 2 amino acid insertion or a 34 amino acid deletion) dispersed through the MAP3K1 gene tilt the balance from the male to female sex-determining pathway, resulting in 46,XY disorder of sex development. These MAP3K1 mutations mediate this balance by enhancing WNT/β-catenin/FOXL2 expression and β-catenin activity and by reducing SOX9/FGF9/FGF...

The inherent promiscuity of the polysialic acid (PSA) biosynthetic pathway has been exploited by the use of exogenous unnatural sialic acid precursor molecules to introduce unnatural modifications into cellular PSA, and has found applications in nervous system development and tumor vaccine studies. The sialic acid precursor molecules N-propionyl- and N-butanoyl-mannosamine (ManPr, ManBu) have b...