The construction of cubic and quartic planar maps with prescribed face degrees

AbstractIn this paper, the existence and availability of computer programs to constructively enumerate all simple connected cubic or quartic planar maps with prescribed number of vertices and face degrees is announced and results of the programs are presented. The underlying algorithms of the computer programs are described

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe

The construction of cubic maps on orientable surfaces

Harmuth T. The construction of cubic maps on orientable surfaces. Bielefeld (Germany): Bielefeld University; 2000.In this text, constructive definitions of several classes of cubic maps, as well as methods to avoid constructing pairwise isomorphic maps are given. In the first part, inductive definitions of all simple cubic toroidal maps, as well as of those simple cubic toroidal maps containing only triangles, squares, pentagons, hexagons, and heptagons, are given. In the second part, an algorithm for the construction of restricted classes of cubic maps is presented. The restrictions are to be given by the user. The user can determine the genus of the maps in the class, the vertex number and the permitted faces. Moreover, the user can give further restrictions concerning connectivity and simpleness or incidence relationships between faces of certain degrees. To every definition and algorithm, there exists a corresponding computer program which can be used to actually construct the class of maps. The computer programs are described in the appendix

CaGe - a Virtual Environment for Studying Some Special Classes of Large Molecules

Brinkmann G, Delgado Friedrichs O, Dress A, Harmuth T. CaGe - a Virtual Environment for Studying Some Special Classes of Large Molecules. MATCH Communications in Mathematical and in Computer Chemistry. 1997;(36):233-237

Acetic Acid Etching of Mg-xGd Alloys

Mg-xGd alloys show potential to be used for degradable implants. As rare earth containing alloys, they are also of special interest for wrought products. All applications from medical to engineering uses require a low and controlled degradation or corrosion rate without pitting. Impurities from fabrication or machining, like Fe inclusions, encourage pitting, which inhibits uniform material degradation. This work investigates a suitable etching method to remove surface contamination and to understand the influence of etching on surface morphology. Acetic acid (HAc) etching as chemical surface treatment has been used to remove contamination from the surface. Extruded Mg-xGd (x = 2, 5 and 10) discs were etched with 250 g/L HAc solution in a volume of 5 mL or 10 mL for different times. The microstructure in the near surface region was characterized. Surface characterization was done by SEM, EDS, interferometry, and ToF-SIMS (time-of-flight secondary ion mass spectrometry) analysis. Different etching kinetics were observed due to microstructure and the volume of etching solution. Gd rich particles and higher etching temperatures due to smaller etchant volumes promote the formation of pits. Removal of 2–9 µm of material from the surface was sufficient to remove surface Fe contamination and to result in a plain surface morphology

Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia

ATP13A2 mutations have been implicated in juvenile parkinsonism (PARK9) and neuronal ceroid lipofuscinosis [1]. Recently, association with complicated hereditary spastic paraplegia (HSP) and an amyotrophic lateral sclerosis-like phenotype have been reported..Fil: Miranda, Marcelo Fabian. Clinica Las Condes; Chile. Fundación Diagnosis; ChileFil: Harmuth, Florian. Eberhard Karls Universität Tübingen; AlemaniaFil: Bustamante, M. Leonor. Clinica Las Condes; Chile. Fundación Diagnosis; Chile. Universidad de Chile; ChileFil: Rossi, Malco Damian. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; ArgentinaFil: Sturm, Marc. Eberhard Karls Universität Tübingen; AlemaniaFil: Magnusson, Ólafur Th. Decode Genetics; IslandiaFil: Bauer, Peter. Eberhard Karls Universität Tübingen; AlemaniaFil: Klockgether, Thomas. Universitat Bonn; AlemaniaFil: Ramirez, Alfredo. Universitat Bonn; Alemani