A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features

Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1 gene. We interpret the pathogenicity of this novel variant and discuss the additional neurological features (pyramidal dysfunction, myoclonus and seizures) that accompanied cognitive decline. This report broadens the clinical phenotype of PSEN1 insertion mutations while also highlighting the importance of considering duplication, insertion and deletion mutations in cases of young onset dementia

Sublittoral soft bottom communities and diversity of Mejillones Bay in northern Chile (Humboldt Current upwelling system)

The macrozoobenthos of Mejillones Bay (23°S; Humboldt Current) was quantitatively investigated over a 7-year period from austral summer 1995/1996 to winter 2002. About 78 van Veen grab samples taken at six stations (5, 10, 20 m depth) provided the basis for the analysis of the distribution of 60 species and 28 families of benthic invertebrates, as well as of their abundance and biomass. Mean abundance (2,119 individuals m-2) was in the same order compared to a previous investigation; mean biomass (966 g formalin wet mass m-2), however, exceeded prior estimations mainly due to the dominance of the bivalve Aulacomya ater. About 43% of the taxa inhabited the complete depth range. Mean taxonomic Shannon diversity (H', Log e) was 1.54 ± 0.58 with a maximum at 20 m (1.95 ± 0.33); evenness increased with depth. The fauna was numerically dominated by carnivorous gastropods, polychaetes and crustaceans (48%). About 15% of the species were suspensivorous, 13% sedimentivorous, 11% detritivorous, 7% omnivorous and 6% herbivorous. Cluster analyses showed a significant difference between the shallow and the deeper stations. Gammarid amphipods and the polychaete family Nephtyidae characterized the 5-mzone, the molluscs Aulacomya ater, Mitrella unifasciata and gammarids the intermediate zone, while the gastropod Nassarius gayi and the polychaete family Nereidae were most prominent at the deeper stations. The communities of the three depth zones did not appear to be limited by hypoxia during non-El Niño conditions. Therefore, no typical change in community structure occurred during El Niño 1997–1998, in contrast to what was observed for deeper faunal assemblages and hypoxic bays elsewhere in the coastal Humboldt Current system

Design Patterns for Efficient Solutions to NP-Complete Problems in Membrane Computing

Many variants of P systems have the ability to generate an exponential number of membranes in linear time. This feature has been exploited to elaborate (theoretical) efficient solutions to NP-complete, or even harder, problems. A thorough review of the existent solutions shows the utilization of common techniques and procedures. The abstraction of the latter into design patterns can serve to ease and accelerate the construction of efficient solutions to new hard problems.Ministerio de Economía y Competitividad TIN2017-89842-

Counting Membrane Systems

A decision problem is one that has a yes/no answer, while a counting problem asks how many possible solutions exist associated with each instance. Every decision problem X has associated a counting problem, denoted by #X, in a natural way by replacing the question “is there a solution?” with “how many solutions are there?”. Counting problems are very attractive from a computational complexity point of view: if X is an NP-complete problem then the counting version #X is NP-hard, but the counting version of some problems in class P can also be NP-hard. In this paper, a new class of membrane systems is presented in order to provide a natural framework to solve counting problems. The class is inspired by a special kind of non-deterministic Turing machines, called counting Turing machines, introduced by L. Valiant. A polynomial-time and uniform solution to the counting version of the SAT problem (a well-known #P-complete problem) is also provided, by using a family of counting polarizationless P systems with active membranes, without dissolution rules and division rules for non-elementary membranes but where only very restrictive cooperation (minimal cooperation and minimal production) in object evolution rules is allowed

Mg/Ca profiles within archaeological mollusc (Patella vulgata) shells: Laser-Induced Breakdown Spectroscopy compared to Inductively Coupled Plasma-Optical Emission Spectrometry

© 2018 Elsevier B.V. Biogenic carbonate mollusc shells have the unique property of being a durable material found in many archaeological and geological sites, recording in their shell chemical composition the ambient environmental conditions during the mollusc's lifespan. In particular, mollusc shell Mg/Ca ratios have been suggested to be related to seawater temperature, although such a relationship is controversial and appears to be species- and even location-specific. This study investigates the use of Laser-Induced Breakdown Spectroscopy (LIBS) for the rapid measurement of Mg/Ca profiles within Patella vulgata shells, via comparison with one established analytical technique that is most often used for this purpose, ICP-OES. LIBS offers some advantages over other spectrometric techniques, including ICP-OES, the latter requiring initial micromilling of sample powders. LIBS offers faster measurement, reduced sample preparation, easier automation and less complex and lower cost instrumentation. A high correlation is evident between LIBS and ICP-OES Mg/Ca profiles within four archaeological P. vulgata shells, as well as strong similarities between LIBS measurements made in two different areas of each P. vulgata shell (i.e. the apex and a more conventional transect along the axis of shell growth). Validation of the LIBS technique for determination of Mg/Ca profiles within P. vulgata shells has implications for archaeological studies, because a greater number of shell specimens sampled from each archaeological site and chronological level can be measured, thereby improving the statistical robustness of data interpretation and conclusions. One example archaeological application that would benefit from application of the LIBS technique is identification of the season-of-capture of marine molluscs as a food resource for prehistoric societies

Glycoprotein Ib activation by thrombin stimulates the energy metabolism in human platelets

<div><p>Thrombin-induced platelet activation requires substantial amounts of ATP. However, the specific contribution of each ATP-generating pathway <i>i</i>.<i>e</i>., oxidative phosphorylation (OxPhos) versus glycolysis and the biochemical mechanisms involved in the thrombin-induced activation of energy metabolism remain unclear. Here we report an integral analysis on the role of both energy pathways in human platelets activated by several agonists, and the signal transducing mechanisms associated with such activation. We found that thrombin, Trap-6, arachidonic acid, collagen, A23187, epinephrine and ADP significantly increased glycolytic flux (3–38 times <i>vs</i>. non-activated platelets) whereas ristocetin was ineffective. OxPhos (33 times) and mitochondrial transmembrane potential (88%) were increased only by thrombin. OxPhos was the main source of ATP in thrombin-activated platelets, whereas in platelets activated by any of the other agonists, glycolysis was the principal ATP supplier. In order to establish the biochemical mechanisms involved in the thrombin-induced OxPhos activation in platelets, several signaling pathways associated with mitochondrial activation were analyzed. Wortmannin and LY294002 (PI3K/Akt pathway inhibitors), ristocetin and heparin (GPIb inhibitors) as well as resveratrol, ATP (calcium-release inhibitors) and PP1 (Tyr-phosphorylation inhibitor) prevented the thrombin-induced platelet activation. These results suggest that thrombin activates OxPhos and glycolysis through GPIb-dependent signaling involving PI3K and Akt activation, calcium mobilization and protein phosphorylation.</p></div

Water seepage beneath dams on soluble evaporite deposits: a laboratory and field study (Caspe Dam, Spain)

The paper presents analytical methods and results for assessing the variation in the concentration of sulphate (and other ions) over space and time in groundwater flowing through a soluble evaporite terrain beneath a dam. The influence of effective porosity, groundwater flow velocity and the specific rate of dissolution (K′) are considered. The theoretical analysis was tested in a scale model simulating a dam constructed on heavily karstified bedrock. A simple and useful method for assessing how much material is lost through dissolution and how the rate of dissolution changes over time is considered in the context of the Caspe Dam, Spain

A new species of cosmocercoides (Nematoda; cosmocercidae) and other helminths in leptodactylus latrans (anura; leptodactylidae) from Argentina

Cosmocercoides latrans n. sp. (Cosmocercidae) from the small intestine of Leptodactylus latrans (Anura: Leptodactylidae) from Northeastern Province of Buenos Aires, Argentina is described. The new species can be distinguished from their congeners by a combination of the characters, among which stands out the number of rosette papillae, the lack of gubernaculum and the presence of lateral alae in both sexes. There are over 20 species in the genus Cosmocercoides, and Cosmocercoides latrans n. sp. represents the third species from the Neotropical realm and the second for Argentina. Additionally, seven previously known taxa are reported; Pseudoacanthocephalus cf. lutzi, Catadiscus uruguayensis, Rauschiella palmipedis, Aplectana hylambatis, Cosmocerca parva, Schrankiana sp. and Rhabdias elegans; providing literature records and information on distribution and host-parasite relationships.Fil: Draghi, Regina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. División Zoología Invertebrados; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; ArgentinaFil: Drago, Fabiana Beatriz. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. División Zoología Invertebrados; Argentina. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas; ArgentinaFil: Lunaschi, Lía Inés. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. División Zoología Invertebrados; Argentin