A Code for m-Bipartite Edge-Coloured Graphs

An (n + 1)-coloured graph $\left(\Gamma,\gamma\right)$ is said to be $m-bipartite$ if m is the maximum integer so that every m-residue of $\left(\Gamma,\gamma\right)$ (i.e. every connected subgraph whose edges are coloured by only m colours) is bipartite; obviously, every (n + 1)-coloured graph, with n $\geq$ 2, results to be m-bipartite for some m, with 2 $\leq$ m $\leq$ n + 1. In this paper, a numerical $code$ of length (2n \textminus{} m + 1) $\times$ q is assigned to each m-bipartite (n + 1)-coloured graph of order 2q. Then, it is proved that$any\; two\; such\; graphs\; have\; the\; same\; code\; if\; and\; only\; if\; they\; are\; colour-isomorphic$, i.e. if a graph isomorphism exists, which transforms the graphs one into the other, up to permutation of the edge-colouring. More precisely, if H is a given group of permutations on the colour set, we face the problem of algorithmically recognizing H-isomorphic coloured graphs by means of a suitable defi{}nition of H-code

A census of genus two 3-manifolds up to 42 coloured tetrahedra

We improve and extend to the non-orientable case a recent result of Karabas, Malicki and Nedela concerning the classification of all orientable prime 3-manifolds of Heegaard genus two, triangulated with at most 42 coloured tetrahedra.Comment: 24 pages, 3 figure

Moloney murine leukemia virus decay mediated by retroviral reverse transcriptase degradation of genomic RNA

AbstractRetroviral vectors are powerful tools for the introduction of transgenes into mammalian cells and for long-term gene expression. However, their application is often limited by a rapid loss of bioactivity: retroviruses spontaneously loose activity at 37 °C, with a half-life of 4 to 9 h depending on the retrovirus type. We sought to determine which components of the retrovirus are responsible for this loss in bioactivity and to obtain a quantitative characterization of their stability. To this end, we focused on RNA and viral proteins, two major components that we hypothesized may undergo degradation and negatively influence viral infectivity. Reverse transcription PCR (RT-PCR) targeting RNA encoding portions of the viral genome clearly demonstrated time-dependent degradation of RNA which correlated with the loss in viral bioactivity. Circular dichroism spectroscopy, SDS-PAGE and two-dimensional SDS-PAGE analyses of viral proteins did not show any change in secondary structure or evidence of proteolysis. The mechanism underlying the degradation of viral RNA was investigated by site-directed mutagenesis of proteins encoded by the viral genome. Reverse transcriptase and protease mutants exhibited enhanced RNA stability in comparison to wild type recombinant virus, suggesting that the degradation of RNA, and the corresponding virus loss of activity, is mediated by the reverse transcriptase enzyme

Dataset on gait patterns in degenerative neurological diseases

We collected the gait parameters and lower limb joint kinematics of patients with three different types of primary degenerative neurological diseases: (i) cerebellar ataxia (19 patients), (ii) hereditary spastic paraparesis (26 patients), and (iii) Parkinson's disease (32 patients). Sixty-five gender-age matched healthy subjects were enrolled as control group. An optoelectronic motion analysis system was used to measure time-distance parameters and lower limb joint kinematics during gait in both patients and healthy controls

Migraine comorbidity: from genotype to phenotype

In this paper, we review the "current" and "ancient" concepts of comorbidity in migraine attack and disease. We emphasize the role of migraine as a complex disease and stress the appropriate consideration that genetic determinants require in modern taxonomy of migraine headaches. Novel attempts to revise migraine nosography should consider the complexity of genotype-phenotype-environment interactions in order to identify more rational approaches to treatment

Phonon-Mediated KIDs as Light Detectors for Rare-Event Search: The CALDER Project

Background suppression plays a crucial role in experiments searching for rare events, like neutrino-less double beta decay (0 $$\nu$$ DBD) and dark matter. Large mass bolometers that are among the most competitive devices in this field would largely benefit from the development of ultrasensitive light detectors, as the combined readout of the bolometric and light signals enables the particle identification. The CALDER collaboration is developing cryogenic light detectors that will match the requirements of next generation experiments: noise lower than 20 eV RMS, large active area (several cm $$^{2}$$ ), wide temperature range of operation, and ease in fabricating and operating a thousand of detectors. For this purpose, we are exploiting the excellent energy resolution and the natural multiplexed read-out provided by kinetic inductance detectors (KIDs). These devices can be operated in a phonon-mediated approach, in which KIDs are coupled to a large insulating substrate in order to increase the active surface from a few mm $$^{2}$$ to 25 cm $$^{2}$$ . Our current best prototype, based on aluminum LEKIDs, reached a baseline sensitivity of 80 eV with an overall efficiency of about 20 %

Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1

We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and neuroimaging findings were normal in a younger relative who harbored the same mutation

G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis

To investigate potential associations of the ICAM-1 gene polymorphisms and Fuchs uveitis in a cohort of Italian patients

Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease

Behçet's disease (BD) is a systemic inflammatory disease with an incompletely understood etiology. Despite the identification of multiple common genetic variants associated with BD, rare genetic variants have been less explored. We undertook this study to investigate the role of rare variants in BD by performing whole exome sequencing in BD patients of European descent. METHODS: Whole exome sequencing was performed in a discovery set comprising 14 German BD patients of European descent. For replication and validation, Sanger sequencing and Sequenom genotyping were performed in the discovery set and in 2 additional independent sets of 49 German BD patients and 129 Italian BD patients of European descent. Genetic association analysis was then performed in BD patients and 503 controls of European descent. Functional effects of associated genetic variants were assessed using bioinformatic approaches. RESULTS: Using whole exome sequencing, we identified 77 rare variants (in 74 genes) with predicted protein-damaging effects in BD. These variants were genotyped in 2 additional patient sets and then analyzed to reveal significant associations with BD at 2 genetic variants detected in all 3 patient sets that remained significant after Bonferroni correction. We detected genetic association between BD and LIMK2 (rs149034313), involved in regulating cytoskeletal reorganization, and between BD and NEIL1 (rs5745908), involved in base excision DNA repair (P = 3.22 × 10(-4) and P = 5.16 × 10(-4) , respectively). The LIMK2 association is a missense variant with predicted protein damage that may influence functional interactions with proteins involved in cytoskeletal regulation by Rho GTPase, inflammation mediated by chemokine and cytokine signaling pathways, T cell activation, and angiogenesis (Bonferroni-corrected P = 5.63 × 10(-14) , P = 7.29 × 10(-6) , P = 1.15 × 10(-5) , and P = 6.40 × 10(-3) , respectively). The genetic association in NEIL1 is a predicted splice donor variant that may introduce a deleterious intron retention and result in a noncoding transcript variant. CONCLUSION: We used whole exome sequencing in BD for the first time and identified 2 rare putative protein-damaging genetic variants associated with this disease. These genetic variants might influence cytoskeletal regulation and DNA repair mechanisms in BD and might provide further insight into increased leukocyte tissue infiltration and the role of oxidative stress in BD