1,467 research outputs found
SPG10 is a rare cause of spastic paraplegia in European families
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date.Objective: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.Patients and methods: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families.Results: Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). Onset of gait disturbance varied from infancy to 30 years of age. All patients presented clinically with pure HSP, but a subclinical sensory--motor neuropathy was detected by neurophysiology studies.Conclusions: SPG10 accounts for approximately 3% of European autosomal dominant HSP families. All mutations affect the motor domain of kinesin and thus most likely impair axonal transport. Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy
PGI7 Optimal Treatment of Chron’s Disease With Biologicals In A Western Balkan Country: Estimates of Cost/Utility By Markov Model And Budget Impact Analysis
Fracture mechanics of laser sintered cracked polyamide for a new method to induce cracks by additive manufacturing
This paper presents an experimental investigation on specimens manufactured by Selective Laser Sintering (SLS), with the purposes of giving designers advice when designing 3D printed parts, and laying the basis for a step forward in the field of fracture mechanics of 3D complex parts. The aim is to investigate the effect of building direction in Polyamide (PA) 3D printed samples and to assess whether a crack can be initiated directly from the sintering process for fracture mechanics study purposes. Six different configurations of Mode I Compact Tension (CT) specimens were manufactured and tested; the experiments were monitored by Digital Image Correlation (DIC) and fractured surfaces were analyzed using microscopy. Results showed that samples with better mechanical performance are those in which all the layers contain a portion of the crack. On the other hand, those with layers parallel to the crack plan offer a preferential pathway for the crack to propagate. DIC and fractography investigations showed that, under certain conditions, small-radius geometries, or too-close surfaces may glue depending on printer resolution. Experiments also showed that SLS is capable of printing specimens with internal cracks that can be used to study fracture mechanics of complex parts or parts with internal cracks
Uv light impact on phthalates migration from children's toys into artificial saliva
Phthalates has been widely used in children?s toys as plastic plasticizers and softeners. Therefore, attention should be paid to plastic toys, especially those that children can put in their mouths. In this paper quantification of five phthalates: DMP, DnBP, BBP, DEHP and DnOP in plastic toys, as well as irradiation of toys with UV light was performed. After sample preparation and development of the liquid?liquid phthalate extraction method from artificial saliva phthalate quantitative determination using the GC?MS technique was performed. The mean recovery value for DEHP is 77.03?2.76 %. The determination of phthalate in the recipient models (artificial saliva and n-hexane) was performed after 6, 15 and 30 days of the migration test using the GC?MS technique. Based on the known mass % DEHP in the analyzed toys, the percentage of phthalate migration from each analyzed toy to the recipient model after 6, 15 and 30 days of the migration test was calculated. The results show that there is no significant migration of DEHP into artificial saliva, due to high polarity of the recipient (artificial saliva is polar), unlike n-hexane where the migration of DEHP is significant because it is a non-polar solvent
Paramagnetic Meissner Effect in Multiply-Connected Superconductors
We have measured a paramagnetic Meissner effect in Nb-Al2O3-Nb Josephson
junction arrays using a scanning SQUID microscope. The arrays exhibit
diamagnetism for some cooling fields and paramagnetism for other cooling
fields. The measured mean magnetization is always less than 0.3 flux quantum
(in terms of flux per unit cell of the array) for the range of cooling fields
investigated. We demonstrate that a new model of magnetic screening, valid for
multiply-connected superconductors, reproduces all of the essential features of
paramagnetism that we observe and that no exotic mechanism, such as d-wave
superconductivity, is needed for paramagnetism.Comment: 4 pages, 3 figures, LaTe
Effect of the Position in the Build Chamber on the Fatigue Strength of Additively Manufactured Maraging Steel MS1
The quality of additively produced parts and the achievable mechanical response may be affected by several factors, such as build orientation, heat treatment, or machining. A further rarely investigated factor is the position of the built part in the chamber with respect to inert gas flow. Previous studies have highlighted that the interaction between gas flow and laser track may induce an intense vaporization with consequent lack of fusion, particle entrainment, drop in density and denudation of the produced part, which is likely to detrimentally affect mechanical properties. This study addresses the effect of part position on the fatigue strength of heat-treated maraging steel MS1 produced by an EOSINT M280 machine in a nitrogen environment. Novelty arises from the lack of studies in this field, especially under fatigue. A factorial plan with subsequent statistical analysis highlighted that positioning the part upstream with respect to the gas flow leads to a slightly lower fatigue strength; however, no significant differences are observed. The failure mode, involving initiation from subsurface porosities of the same size, is also unaffected. Finally, a fatigue limit of 26% of the ultimate tensile strength is found, which is consistent with previous outcomes
Content of Trace Metals in Medicinal Plants and their Extracts
The heavy metals (Fe, Cu, Zn and Mn) contents of selected plant species, grown in Southeast region of Serbia, that are traditionally used in alternative medicine were determined. Among the considered metals, iron content was the highest one and varied from 137.53 up to 423.32 mg/kg, while the contents of Cu, Zn and Mn were remarkably lower, and ranged from 8.91 to 62.20 mg/kg. In addition, an analysis of plants extracts showed a significant transfer of heavy metals during extraction procedure; therefore, the corresponding extraction coefficients reached values up to 88.8%. Those were especially high in the ethanol based extracts. Moreover, it is was established that such coefficients mostly depend on the solvent nature and also on the treated plant species. The obtained results impose that medicinal plants from Southeast region of Serbia due to rather low content of heavy metals are appropriate for preparation of teas and medicinal extracts
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