De novo unbalanced translocations have a complex history/aetiology

We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array CGH, whole-genome sequencing, qPCR, FISH, and trio genotyping were applied. A biparental origin of the deletion and duplication was detected in 6 cases, whereas in 46, both imbalances have the same parental origin. Moreover, the duplicated region was of maternal origin in more than half of the cases, with 25% of them showing two maternal and one paternal haplotype. In all these cases, maternal age was increased. These findings indicate that the primary driver for the occurrence of the de novo unbalanced translocations is a maternal meiotic non-disjunction, followed by partial trisomy rescue of the supernumerary chromosome present in the trisomic zygote. In contrast, asymmetric breakage of a dicentric chromosome, originated either at the meiosis or postzygotically, in which the two resulting chromosomes, one being deleted and the other one inv-dup del, are repaired by telomere capture, appears at the basis of all inv-dup del translocations. Notably, this mechanism also fits with the origin of some simple translocations in which the duplicated region was of paternal origin. In all cases, the signature at the translocation junctions was that of non-homologous end joining (NHEJ) rather than non-allelic homologous recombination (NAHR). Our data imply that there is no risk of recurrence in the following pregnancies for any of the de novo unbalanced translocations we discuss here

Characterisation of artificial patinas on bronze sculptures of the Carlo Bilotti Museum (Rome)

Two bronze sculptures, Ettore e Andromaca, a reproduction of a plaster model by Giorgio de Chirico, and Cardinale, a cast made from an original by Giacomo Manzù, stand outside the Carlo Bilotti contemporary art museum in Villa Borghese park (Rome). The composition of the artificial brown patina present on the statues’ surface, which was applied for aesthetic purposes, is unknown. This paper reports analysis carried out to identify the composition of the artificial patina and describe the corrosion products formed in outdoor conditions. Raman spectroscopy and scanning electron microscopy equipped with X-ray microanalysis were performed on sample fragments and powder scrapings taken from the bronze statues. X-ray powder diffraction was used whenever possible and subject to conservation priorities. Our data revealed, in the artificial brown patina, the formation of copper oxides (cuprite and tenorite) on the surface of both sculptures as possible result of oxidisation treatments performed with a blowtorch before the artificial patination process began. Furthermore, a copper nitrate (gerhardtite) was identified as an ingredient in the preparation applied to the bronze surfaces. The green areas revealed the presence of corrosion products as copper sulphate hydroxide (brochantite) and copper sulphate-chloride (connellite), which form under acid rains conditions

Binding weakly interacting partners: a study of Ca–He2 and its isotopomers

We present in this paper binding energies and structures of non-rotating weakly bound 40Ca–nHe2 triatomic complexes. Two kind of systems are discussed: bosonic (n = 4) and fermionic (n = 3) complexes at its singlet state (nuclear spin S = 0). Three different coordinate systems and methods have been used to solve the relevant Schrödinger equation: variational calculations (1) using satellite coordinates and a discrete variable representation of radial functions; (2) employing pair coordinates and products of distributed Gaussian functions as basis functions; and (3) variational/Diffusion Monte Carlo calculations in Cartesian coordinates. The potential energy surface is represented as the addition of pair potentials. By using the most realistic interaction between each pair of particles, present results from the three methods are in fair agreement. Only two bound states for each system are found in our computations

Percutaneous coronary interventions in Europe1992-2003.

Aims: The purpose of this registry is to collect data on trends in interventional cardiology within Europe. Special interest focuses on relative increases and ratios in newer revascularization approaches and its distribution in different regions in Europe. We report the data of the year 2003 and give an overview of the development of coronary interventions since 1992, when the first data collection was performed.Methods and results: Questionnaires were distributed yearly to delegates of all national societies of cardiology represented in the European Society of Cardiology to collect the case numbers of all local institutions and operators. The overall numbers of coronary angiographies increased from 1992 to 2003 from 684,000 to 1,993,000 (from 1,250 to 3,500 per million inhabitants). The respective numbers for percutaneous coronary interventions (PCI-coronary angioplasty) and coronary stenting procedures increased from 184,000 to 733,000 (from 335 to 1,300) and from 3,000 to 610,000 (from 5 to 1,100), respectively. Germany has been the most active country for the past years with 653,000 angiographies (7,800), 222,000 angioplasties (2,500), and 180,000 stenting procedures (2,200) in 2003. The indication has shifted towards acute coronary syndromes, as demonstrated by raising rates of interventions for acute myocardial infarction over the last decade. The procedures are more readily performed and safer, as shown by increasing rate of "ad hoc" PCI and decreasing need for emergency coronary artery bypass surgery (CABG). In 2003, use of drug-eluting stents had further increased. However, an enormous variability is reported with the highest rate in Portugal (55%).Conclusion: Interventional cardiology in Europe is still expanding, mainly but not exclusively due to rapid growth in the eastern European countries. A number of new coronary revascularization procedures introduced over the years have all but disappeared. Only stenting has experienced an exponential growth. The same can be forecast for drug-eluting stenting

Percutaneous coronary interventions in Europe 1992-2003

peer reviewedAIMS: The purpose of this registry is to collect data on trends in interventional cardiology within Europe. Special interest focuses on relative increases and ratios in newer revascularization approaches and its distribution in different regions in Europe. We report the data of the year 2003 and give an overview of the development of coronary interventions since 1992, when the first data collection was performed. METHODS AND RESULTS: Questionnaires were distributed yearly to delegates of all national societies of cardiology represented in the European Society of Cardiology to collect the case numbers of all local institutions and operators. The overall numbers of coronary angiographies increased from 1992 to 2003 from 684,000 to 1,993,000 (from 1,250 to 3,500 per million inhabitants). The respective numbers for percutaneous coronary interventions (PCI-coronary angioplasty) and coronary stenting procedures increased from 184,000 to 733,000 (from 335 to 1,300) and from 3,000 to 610,000 (from 5 to 1,100), respectively. Germany has been the most active country for the past years with 653,000 angiographies (7,800), 222,000 angioplasties (2,500), and 180,000 stenting procedures (2,200) in 2003. The indication has shifted towards acute coronary syndromes, as demonstrated by raising rates of interventions for acute myocardial infarction over the last decade. The procedures are more readily performed and safer, as shown by increasing rate of "ad hoc" PCI and decreasing need for emergency coronary artery bypass surgery (CABG). In 2003, use of drug-eluting stents had further increased. However, an enormous variability is reported with the highest rate in Portugal (55%). CONCLUSION: Interventional cardiology in Europe is still expanding, mainly but not exclusively due to rapid growth in the eastern European countries. A number of new coronary revascularization procedures introduced over the years have all but disappeared. Only stenting has experienced an exponential growth. The same can be forecast for drug-eluting stenting