Study Objectives: Isolated rapid eye movement sleep behavior disorder (iRBD) is a parasomnia characterized by dream enactment. It represents a prodromal state of α-synucleinopathies, like Parkinson's disease. In recent years, biomarkers of increased risk of phenoconversion from iRBD to overt α-synucleinopathies have been identified.
View Article and Find Full Text PDFNeurologic disorders impact the ability of the brain to regulate sleep, wake, and circadian functions, including state generation, components of state (such as rapid eye movement sleep muscle atonia, state transitions) and electroencephalographic microarchitecture. At its most extreme, extensive brain damage may even prevent differentiation of sleep stages from wakefulness (eg, status dissociatus). Given that comorbid sleep-wake-circadian disorders are common and can adversely impact the occurrence, evolution, and management of underlying neurologic conditions, new technologies for long-term monitoring of neurologic patients may potentially usher in new diagnostic strategies and optimization of clinical management.
View Article and Find Full Text PDFBackground: Alveolar echinococcosis is a rare condition, but living or working in a rural environment is a substantial risk factor. The liver is the organ primarily affected, with additional extrahepatic manifestations in approximately 25% of cases. Primary extrahepatic disease is rare, and isolated cerebral involvement is extremely unusual.
View Article and Find Full Text PDFDuring navigation, rodents continually sample the environment with their whiskers. How locomotion modulates neuronal activity in somatosensory cortex, and how it is integrated with whisker-touch remains unclear. Here, we compared neuronal activity in layer 2/3 (L2/3) and L5 of barrel cortex using calcium imaging in mice running in a tactile virtual reality.
View Article and Find Full Text PDFThe misfolding of the cellular prion protein (PrP) causes fatal neurodegenerative diseases. Yet PrP is highly conserved in mammals, suggesting that it exerts beneficial functions preventing its evolutionary elimination. Ablation of PrP in mice results in well-defined structural and functional alterations in the peripheral nervous system.
View Article and Find Full Text PDFMethylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMAuria using a constitutive Mut knock-in (KI) allele based on the p.
View Article and Find Full Text PDFObjective: We present a series of 87 patients who underwent anteromesial temporal lobe resections for therapy refractory temporal lobe epilepsy. In addition to seizure outcome, we observed excessively elevated CRP-levels in this patient population.
Methods: We followed 87 patients (m=39, f=48; mean age 33.
Epidermal growth factor receptor (EGFR) gene mutation and high gene copy number (CN) predict response to EGFR tyrosine kinase inhibitor therapy in the adenocarcinoma subtype of non-small cell lung cancer (NSCLC). The aims of this study were first to compare automated enzyme metallographic silver-enhanced in situ hybridization (SISH) with conventionally used fluorescence in situ hybridization (FISH) in the determination of EGFR CN in NSCLC tissue sections, and second to assess the association of EGFR CN with EGFR mutations and clinicopathological parameters. FISH and SISH were performed on tissue microarrays and large sections.
View Article and Find Full Text PDF