Search results for "AHC"
showing 6 items of 6 documents
Essential oil variation within and among natural populations of Lavandula latifolia and its relation to their ecological areas
2007
Essential oil yield and composition in seven natural populations of Lavandula latifolia from the eastern Iberian Peninsula were determined by GC/MS. Twenty-eight constituents were identified, accounting for 92.0e95.4% of the total oils. These oils were dominated by the monoterpene fraction and three of them (linalool, cineole and camphor) constituted 79.5e86.9% of the oil from flowers. Essential oil yield in leaves and flowers varied among and within populations, but hierarchic analyses of variance showed that the proportion of variation attributable to individuals was significantly higher than that attributable to population differences. Principal component and cluster analyses allowed thr…
Modeling, simulation and design optimization of a hoisting rig active heave compensation system
2012
Published version of an article in the journal: International Journal of Machine Learning and Cybernetics. Also available from the publisher at: http://dx.doi.org/10.1007/s13042-012-0076-x The objective of this paper is to present an approach in developing a virtual active heave compensation system for a draw-works on a hoisting rig. A virtual system enables quicker overall product development time of a physical system as well as flexibility in optimizing the design parameters. Development of the virtual system started with the modelling of the draw-works and hoisting rig dynamics. Simulations of this model were run in two operational modes while subject to a sinusoidal wave: heave compensa…
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
2020
Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
2022
Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Ital…
Hardware-in-the-loop implementation for an active heave compensated drawworks
2012
Published version of an article published in the journal: Central European Journal of Engineering. Also available from the publisher at: http://dx.doi.org/10.2478/s13531-011-0062-1 This paper presents the setup and running of a hardware-in-loop (HIL) simulation for an active heave compensated (AHC) draw-works. A simulation model of the draw-works is executed on a PC to simulate the AHC draw-works with a physical PLC. The PLC (ET200S) is configured with a controller architecture that regulates the motor angular displacement and velocity through actuation of the servo valves. Furthermore, a graphical user interface is developed for operation of the AHC system. The HIL test allowed tuning of t…
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency
2016
S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia, absent tendon reflexes etc.) from birth, mostly associated with hypermethioninaemia, elevated serum creatine kinase levels and increased genome wide DNA methylation. The prime function of AHCY is to hydrolyse and efficiently remove S-adenosylhomocysteine, the by-product of transmethylation reactions and one of the most potent methyltransferase inhibitors. In this study, we set out to more specifically characterize DNA methylation changes in blo…