Fanconi anemia : a model disease for studies on human genetics and advanced therapeutics

Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and chromosome fragility. We review the recent discovery of FA genes and efforts to develop genetic therapies for FA in the last five years. Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome. Monoallelic mutations in 6 FA associated genes (FANCD1, FANCJ, FANCM, FANCN, FANCO and FANCS) predispose to breast and ovarian cancer. The products of all these genes are involved in the repair of stalled DNA replication forks by unhooking DNA interstrand cross-links and promoting homologous recombination. The genetic characterization of patients with FA is essential for developing therapies, including hematopoietic stem cell transplantation from a savior sibling donor after embryo selection, gene therapy, or genome editing using genetic recombination or engineered nucleases. Newly acquired knowledge about FA promises to provide therapeutic strategies in the near future

Michele Menna, Il nuovo mosaico della conoscenza. Biblioteche e bibliotecari di fronte ai processi di transizione professionale. Il caso dell'Università di Bologna. Prefazione di Everardo Minardi. Bologna : Clueb, 2002. 179 p. (Amministrare l'Università ; 8) ISBN 88-491-1875-9. 15 €

Review of: Michele Menna, "Il nuovo mosaico della conoscenza. Biblioteche e bibliotecari di fronte ai processi di transizione professionale. Il caso dell'Università di Bologna". Since universities declare themselves knowledge industries, it seems that also for us are available that thought and those realizations of organization science which before were confined in the world of for money firms. In the same way, we've had the privilege of being able to begin experimenting on ourselves a process of dissolution of the work as derived by a solid tradition. The case of librarians (and of the growing almost myriad of related professions) seems exemplary; LIS area has always been the one most positively sensible to the enrichments of professional profiles and to forms of rational work organization

Follicular size affects the meiotic competence of in vitro matured prepubertal and adult oocytes in sheep

Non-atretic follicles dissected from prepubertal and adult ovaries were allocated in three groups: a) < 1 mm; b) 1-2 mm; c) > 2 mm. After 24 h of maturation, a lower percentage of adult oocytes from group a (P < 0.01) reached metaphase II than those from groups b and c (70.4 versus 89.5 and 95.5). Prepubertal oocytes showed similar results (P < 0.01; 27.2 versus 79.8 and 81.8). There was a significant difference (P < 0.01) in meiotic progression between prepubertal and adult oocytes of < 1 mm follicles. The diameter of prepubertal oocytes derived from group a was significantly lower (P < 0.01) compared to groups b and c (138.1 versus 142.1 and 145.6); adult oocytes showed similar results (P < 0.01; 142.2 versus 157.2 and 158.1 Oocytes with the same diameter derived from different follicles of prepubertal and adult ovaries showed similar meiotic progression rates. Des follicules non-atrétiques sélectionnés à partir d’ovaires d’ovins prépubères et adultes ont été répartis en trois groupes selon leur diamètre : a) < 1 mm ; b) 1-2 mm ; c) > 2 mm. Après 24 h de maturation les ovocytes dérivant des ovaires d’animaux adultes appartenant au groupe a ont atteint la MII dans des pourcentages nettement inférieurs (p < 0,01) à ceux observés pour les groupes b et c (70,4 versus 89,5 et 95,5). Des résultats identiques ont été obtenus avec les ovocytes provenant d’animaux prépubères (p < 0,01 ; 27,2 versus 79,8 et 81,8). Une grande différence (p < 0,01) dans le potentiel à reprendre la méiose existe entre les ovocytes de prépubères et des adultes provenant de follicules < 1 mm. Le diamètre des ovocytes d’agneaux provenant de follicules du groupe a était nettement inférieur (p < 0,01 ) par rapport à ceux provenant de follicules des groupes b ou c (138,1 versus 142,1 et 145,6). Des résultats identiques ont été observés pour les ovocytes provenant d’animaux adultes (p < 0,01, 142,2 versus 157,2 et 158,1). Des ovocytes de même diamètre provenant d’ovaires de prépubères et d’adultes ne diffèrent pas dans leur aptitude à reprendre la méiose

Distributed averaging for accuracy prediction in networked systems

Distributed averaging is among the most relevant cooperative control problems, with applications in sensor and robotic networks, distributed signal processing, data fusion, and load balancing. Consensus and gossip algorithms have been investigated and successfully deployed in multi-agent systems to perform distributed averaging in synchronous and asynchronous settings. This study proposes a heuristic approach to estimate the convergence rate of averaging algorithms in a distributed manner, relying on the computation and propagation of local graph metrics while entailing simple data elaboration and small message passing. The protocol enables nodes to predict the time (or the number of interactions) needed to estimate the global average with the desired accuracy. Consequently, nodes can make informed decisions on their use of measured and estimated data while gaining awareness of the global structure of the network, as well as their role in it. The study presents relevant applications to outliers identification and performance evaluation in switching topologies

A Monte Carlo Method for Assessing the Quality of Duplication-Aware Alignment Algorithms

The increasing availability of high throughput sequencing technologies poses several challenges concerning the analysis of genomic data. Within this context, duplication-aware sequence alignment taking into account complex mutation events is regarded as an important problem, particularly in light of recent evolutionary bioinformatics researches that highlighted the role of tandem duplications as one of the most important mutation events. Traditional sequence comparison algorithms do not take into account these events, resulting in poor alignments in terms of biological significance, mainly because of their assumption of statistical independence among contiguous residues. Several duplication-aware algorithms have been proposed in the last years which differ either for the type of duplications they consider or for the methods adopted to identify and compare them. However, there is no solution which clearly outperforms the others and no methods exist for assessing the reliability of the resulting alignments. This paper proposes a Monte Carlo method for assessing the quality of duplication-aware alignment algorithms and for driving the choice of the most appropriate alignment technique to be used in a specific context

THE RESPONSABILITY TO PROTECT AND THE USE OF FORCE IN INTERNATIONAL LAW

The following article deals with the developments in recent years on the debate concerning humanitarian intervention and the framework of public international law regarding the use of force. It specifically focuses on how the doctrine of the Responsibility to Protect (R2P) has developed over the years and why it cannot be seen as a contribution to the affirmation of a so-called “right” of humanitarian interventionThe following article deals with the developments in recent years on the debate concerning humanitarian intervention and the framework of public international law regarding the use of force. Itspecifically focuses on how the doctrine of the Responsibility to Protect (R2P) has developed over theyears and why it cannot be seen as a contribution to the affirmation of a so-called “right” of humanitarian intervention

A Lossy Compression Technique Enabling Duplication-Aware Sequence Alignment

In spite of the recognized importance of tandem duplications in genome evolution, commonly adopted sequence comparison algorithms do not take into account complex mutation events involving more than one residue at the time, since they are not compliant with the underlying assumption of statistical independence of adjacent residues. As a consequence, the presence of tandem repeats in sequences under comparison may impair the biological significance of the resulting alignment. Although solutions have been proposed, repeat-aware sequence alignment is still considered to be an open problem and new efficient and effective methods have been advocated. The present paper describes an alternative lossy compression scheme for genomic sequences which iteratively collapses repeats of increasing length. The resulting approximate representations do not contain tandem duplications, while retaining enough information for making their comparison even more significant than the edit distance between the original sequences. This allows us to exploit traditional alignment algorithms directly on the compressed sequences. Results confirm the validity of the proposed approach for the problem of duplication-aware sequence alignment