Démarche diagnostique en mycologie

Troisième partie : Maladies fongiques</p

Mycoses superficielles

Troisième partie : Maladies fongiques</p

Autres mycoses profondes

Mucormycoses tropicalesTroisième partie: Maladies fongiques</p

Introduction à la mycologie en zones tropicales

Troisième partie : Maladies fongiques</p

Age-dependent skewing of X chromosome inactivation appears delayed in centenarians\u2019 offspring. Is there a role for allelic imbalance in Healthy Aging and Longevity?

Recently, it has been proposed that age-related X chromosome inactivation (XCI) skewing can clinically result in late-onset X-linked disorders. This observation leads to hypothesize that age-related skewed XCI might also influence lifespan in women. To investigate this issue, we employed a new experimental model of longevity and healthy aging including 55 female centenarians, 40 of their offspring, 33 age-matched offspring of both non-long-lived parents and 41 young women. Peripheral blood DNA from 169 females was screened for heterozygosity at the HUMARA locus. We confirmed that skewing of XCI is an age-dependent phenomenon. However, skewed XCI was significantly less severe and frequent in centenarians' offspring [degree of skewing (DS) = 0.16 \ub1 0.02] compared to age-matched offspring of both non-long-lived parents (DS = 0.24 \ub1 0.02) (P &lt; 0.05). A second goal was to assess whether changes in XCI pattern could be a consequence of loss of methylation on X chromosome. Using a methylation array evaluating 1085 CpG sites across X chromosome and eleven CpG sites located at HUMARA locus, no differences in methylation levels and profiles emerged between all groups analysed, thus suggesting that age-associated epigenetic changes could not influence HUMARA results. In conclusion, the results presented herein highlight for the first time an interesting link between skewing of XCI and healthy aging and longevity. We speculate that the allelic imbalance produced by XCI skewing may compromise the cooperative and compensatory organization occurring between the two cell populations that make up the female mosaic

OBDD-Based Representation of Interval Graphs

A graph $G = (V,E)$ can be described by the characteristic function of the edge set $\chi_E$ which maps a pair of binary encoded nodes to 1 iff the nodes are adjacent. Using \emph{Ordered Binary Decision Diagrams} (OBDDs) to store $\chi_E$ can lead to a (hopefully) compact representation. Given the OBDD as an input, symbolic/implicit OBDD-based graph algorithms can solve optimization problems by mainly using functional operations, e.g. quantification or binary synthesis. While the OBDD representation size can not be small in general, it can be provable small for special graph classes and then also lead to fast algorithms. In this paper, we show that the OBDD size of unit interval graphs is $O(\ | V \ | /\log \ | V \ |)$ and the OBDD size of interval graphs is $O(\ | V \ | \log \ | V \ |)$which both improve a known result from Nunkesser and Woelfel (2009). Furthermore, we can show that using our variable order and node labeling for interval graphs the worst-case OBDD size is$\Omega(\ | V \ | \log \ | V \ |)$. We use the structure of the adjacency matrices to prove these bounds. This method may be of independent interest and can be applied to other graph classes. We also develop a maximum matching algorithm on unit interval graphs using$O(\log \ | V \ |)$operations and a coloring algorithm for unit and general intervals graphs using$O(\log^2 \ | V \ |)$ operations and evaluate the algorithms empirically.Comment: 29 pages, accepted for 39th International Workshop on Graph-Theoretic Concepts 201

No association between frailty index and epigenetic clocks in Italian semi-supercentenarians

Centenarians experience successful ageing, although they still present high heterogeneity in their health status. The frailty index is a biomarker of biological age, able to capture such heterogeneity, even at extreme old age. At the same time, other biomarkers (e.g., epigenetic clocks) may be informative the biological age of the individual and potentially describe the ageing status in centenarians. In this article, we explore the relationship between epigenetic clocks and frailty index in a cohort of Italian centenarians. No association was reported, suggesting that these two approaches may describe different aspects of the same ageing process

Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks

The technological advancements in genetics produced a profound impact on the research and diagnostics of non-communicable diseases. The availability of next-generation sequencing (NGS) allowed the identification of novel candidate genes but also an in-depth modification of the understanding of the architecture of several endocrine diseases. Several different NGS approaches are available allowing the sequencing of several regions of interest or the whole exome or genome (WGS, WES or targeted NGS), with highly variable costs, potentials and limitations that should be clearly known before designing the experiment. Here, we illustrate the NGS scenario, describe the advantages and limitations of the different protocols and review some of the NGS results obtained in different endocrine conditions. We finally give insights on the terminology and requirements for the implementation of NGS in research and diagnostic labs