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Background Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with those relating to industrialized countries, the knowledge concerning breast cancer in Africa, particularly in Western Africa, still lack clinical data, medical treatments, and the evaluation of genetic and non-genetic factors implicated in the etiology of the disease. The early onset and the aggressiveness of diagnosed breast cancers in patients of African ancestry strongly suggest that the genetic risk factor may be a key component, but so far, very few studies on the impact of germ line mutations in breast cancer in Africa have been conducted, with negative consequences on prevention, awareness and patient management. Through Next Generation sequencing (NGS), we analyzed all of the coding regions and the exon–intron junctions of BRCA1 and BRCA2 genes—the two most important genes in hereditary breast cancer—in fifty-one women from Burkina Faso with early onset of breast cancer with or without a family history. Results We identified six different pathogenic mutations (three in BRCA1, three in BRCA2), two of which were recurrent in eight unrelated women. Furthermore, we identified, in four other patients, two variants of uncertain clinical significance (VUS) and two variants never previously described in literature, although one of them is present in the dbSNP database. Conclusions This is the first study in which the entire coding sequence of BRCA genes has been analyzed through Next Generation Sequencing in Burkinabe young women with breast cancer. Our data support the importance of genetic risk factors in the etiology of breast cancer in this population and suggest the necessity to improve the genetic cancer risk assessment. Furthermore, the identification of the most frequent mutations of BRCA1 and BRCA2 in the population of Burkina Faso will allow the development of an inexpensive genetic test for the identification of subjects at high genetic cancer risk, which could be used to design personalized therapeutic protocols.

One major issue in the aftermath of a strong earthquake is the emergency management, which cannot be guaranteed if the physical components necessary for the operability of the contingency plan are either damaged, unusable or inaccessible. In order to assess the physical efficiency of the emergency system on which a contingency plan is based, the I.OPà.CLE method (Indices for evaluation of the Operational efficiency of Limit Condition Emergency) has been set up by the Italian Civil Protection Department. It is basically aimed at supporting civil protection decision makers in evaluating emergency systems and establishing strategies and priorities concerning strengthening interventions at national, regional or municipality level. The method must be potentially applied to any of the around 8000 municipalities all over Italy, and then it must refer to a minimum information dataset readily available for any municipality. Therefore, I.OPà.CLE has been specifically tailored for the minimum standard information that is provided by the analysis of Limit Condition for Emergency, as formulated in 2012 by the Italian Civil Protection Department. This analysis defines the standard framework of the physical layout of a municipal seismic emergency plan, relying on a limited number of information. Notwithstanding the numerically extensive target and limited amount of information available, the ambition of I.OPà.CLE is to perform simplified analyses without renouncing to rigor in the methodology. The present paper illustrates the analytic formulation of I.OPà.CLE and its capabilities, as well as two real examples. In the conclusion, future upgrading of the model are discussed, even in relation to the availability of further pieces of information.

The Italian National Seismic Prevention Plan (NSPP) was issued following the destructive 2009 L'Aquila earthquake, with a total endowment of 965 million euros granted by law, under the coordination of the Italian Civil Protection Department (ICPD). The NSPP addresses seismic risk reduction according to a broad view, through multi-task programs. Among the measures granted by NSPP, one is devoted to the seismic retrofit of strategic or critical public buildings and infrastructures, whose damage or collapse may affect emergency management as well as produce high consequences in terms of human lives. The paper provides a preliminary assessment of such seismic prevention measure, through some statistical elaborations on a sample of around 1000 interventions, 375 of which so far concluded. The analyses carried out on this sample provide interesting information to verify the effectiveness of the measure as well as to enhance further actions similarly purposed. Analyses on seismic risk indices of critical buildings included in the NSPP are presented and discussed in the paper, together with an early analysis of costs and benefits associated with different structural types, and intervention types. The results obtained highlight interesting aspects in terms of seismic safety increases and marginal costs for the masonry and reinforced concrete buildings of the considered sample. These preliminary results, though requiring further calibrations on the larger datasets foreseen in the future, provide useful hints to envisage how they could be used in the definition of future strategies for seismic risk reduction. To this aim, a final paragraph provides an exemplification and a simplified procedure based on the findings shown in the paper, for comparing costs and benefits of different strategies aimed at reducing the risk of a given portfolio of buildings.

The procedure for pump qualification and verification for the European market is now in force. In this paper, tests performed in the Hydro-Energy Laboratory (HELab), at the University of Naples Federico II in Italy, are described and the results discussed.

Background Marfan Syndrome (MFS) is a chronic, life-threatening, autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, coding for fibrillin-1. All organ systems may be affected, but particularly the cardiovascular system, eyes, and skeleton. Mortality generally results from cardiovascular complications, mainly aortic dissection. Currently, the diagnosis of MFS is based on the revised Ghent nosology. Molecular analysis of the FBN1 gene reduces diagnostic uncertainty in patients with suspected MFS or MFS-related disorders (MFS-RD). To date, more than 2700 FBN1 mutations are known. Methods Using Next Generation Sequencing (NGS) followed by Multiplex Ligation-dependent Probe Amplification on NGS-negative samples, we screened FBN1 gene on 124 unrelated patients (101 MFS fulfilling revised Ghent criteria, 20 suspected MFS, 3 MFS-RD) enrolled from 2008 to 2018 at the Multidisciplinary Marfan Clinic, Tor Vergata Hospital, Rome. Results An FBN1 variant was identified in 107/124 (86.3%) patients, including 48 novel variants (46 pathogenic/likely pathogenic, 2 VUS). A pathogenic/likely pathogenic variant was detected in 90/101 (89.1%) MFS patients. Our approach allowed early diagnosis for 10 young patients (age 3–19 years) with suspected MFS. Conclusions This study broadens the mutation spectrum of FBN1, providing a full update of the molecular basis of MFS in Italy.

New experimental data on pressure-pipe flow of slurries, together with some literature data, are used to evaluate the performance of four resistance models based on different interpretations of the process. The experiments were performed on a mixture of water and uniform sediment showing a shear-thinning rheological behavior. The literature datasets refer to a Bingham plastic mixture and to a shear-thickening mixture. Two of the tested models assume a fully stratified flow and express the total resistances as the sum of the bed and of the vehicle contribution. The third and the fourth models are based on a rheological approach that considers an equivalent homogenous fluid.

The use of pumps operating as a turbines (PATs) is an alternative cheap solution for the conversion of dissipations along the distribution networks, but a little information about their performance is available. The turbomachinery affinity law can be applied for the evaluation of the performances curves, but can produce relevant errors that can be reduced with a modification of the affinity law. This research, which is based on experimental collected data, proposes a modification of the turbomachinery affinity law in order to minimize the differences between experimental data and the predicted curves.

Sixty-one heterozygotes harboring the germline V804L mutation of the RET protooncogene were identified in five independent families. A total of 31 subjects underwent surgery. Histology identified C cell hyperplasia in 30 cases, isolated in 12 and associated with medullary thyroid carcinoma (MTC) in 18. Six patients with MTC had lymph node metastases. Among the 14 patients with basal detectable calcitonin (CT) level, 12 had MTC and 2 had isolated C cell hyperplasia. In most individuals carrying 804 RET mutation, C cell disease displayed late onset and an indolent course; a pentagastrin test was negative in the majority of heterozygotes during the first 2 decades and was positive in only half of them during the third and fourth decades of life. Interestingly, concomitant somatic M918T was detected in a 12-yr-old girl with MTC and was likely to be responsible for both the early clinical appearance and the aggressiveness of the disease. Our data show that in these gene carriers, surgery may be postponed to the fourth decade of life or until the pentagastrin stimulation test becomes positive. Indeed, our data should be confirmed on a larger series of V804L carriers, but may offer a balanced strategy to keep under control and prevent development of the full disease phenotype.