Many candidates for a single chair: a critical review of the genetic determinant of flat fruit shape trait in peach (Prunus persica L. Batsch)

AbstractKnown since ancient times, flat-shaped peach (Prunus persica L. Batsch) fruits have aroused considerable research interest. Breeding activities for this trait have expanded since the 1980s of the last century in several countries, in parallel with research into its genetic basis. Following the need for molecular markers to assist selection, linkage mapping studies have positioned the flat shape S locus at the end of chromosome 6. Recently, a series of independent studies focused on detailed characterization of the genomic region harbouring the S locus and different hypotheses about the candidate gene or variant were proposed: from a constitutively activated cell death 1 protein (PpCAD1) to a Brassinosteroid insensitive 1-associated receptor kinase 1 group (PpLRR-RLK) until the discovery of large structural variant (a chromosomal inversion of about 1.7 Mb) putatively affecting an OVATE Family Protein (PpOFP1) and a homolog of sucrose non-fermenting 1-related kinase (PpSNF4), respectively, located at the proximal and distal breakpoints. This short review revises historical studies and recent literature, integrating reanalysis of available genetic and genomic data, to provide a critical overview of the topic and highlight avenues for further research

Risk of second primary malignancy in breast cancer survivors: A nested population-based case-control study

Purpose: Evolving therapies have improved the prognoses of patients with breast cancer; and currently, the number of long-term survivors is continuously increasing. However, these patients are at increased risk of developing a second cancer. Thus, late side effects are becoming an important issue. In this study, we aimed to investigate whether patient and tumor characteristics, and treatment type correlate with secondary tumor risk. Methods: This case-control study included 305 patients with a diagnosed second malignancy after almost 6 months after the diagnosis of primary breast cancer and 1,525 controls (ratio 1:5 of cases to controls) from a population-based cohort of 6,325 women. The control patients were randomly selected from the cohort and matched to the cases according to age at diagnosis, calendar period of diagnosis, disease stage, and time of follow-up. Results: BRCA1 or BRCA2 mutation, human epidermal growth factor receptor 2 (HER2)+ status, chemotherapy, and radiotherapy were related to increased risk of developing a second cancer, whereas hormonotherapy showed a protective effect. Chemotherapy, radiotherapy, and estrogenic receptor level <10% increased the risk of controlateral breast cancer. HER2+ status increased the risk of digestive system and thyroid tumors, while BRCA1 or BRCA2 mutation increased the risk of cancer in the genital system. Conclusion: Breast cancer survivors are exposed to an excess of risk of developing a second primary cancer. The development of excess of malignancies may be related either to patient and tumor characteristics, such as BRCA1 or BRCA2 mutation and HER2+ status, or to treatments factors

Tumor size, node status, grading, HER2 and estrogen receptor status still retain a strong value in patients with operable breast cancer diagnosed in recent years.

Breast cancer prognosis has improved greatly in recent years. Consequently, a thorough search for sensitive prognostic factors, able to help clinicians offer appropriate therapy, has become a priority in this area. In this study, we considered all new cases of invasive breast cancer diagnosed in the Province of Modena, Italy, between 1997 and 2007, registered by the Modena Cancer Registry. The principal endpoint of this study was relapse-free survival (RFS). A set of 11 clinic and pathological parameters was investigated. After a median follow-up of 73 months, 494 relapses were recorded. Tumor size, node status, grading, HER2 and estrogen receptor status were retained as independent factors in a multivariate analysis. Using these variables, a prognostic model was devised to identify three groups at different risk. In the training sample, the 5-year RFS rates resulted 96.0%, 82.9% and 63.7% in patients at low, intermediate and high risk, respectively (p < 0.0001). In the validation sample, the 5-year RFS was 96.2%, 85.4% and 66.9%, respectively. To conclude our study demonstrates that a very simple prognostic index based on easily available clinical data may represent a useful tool for the identification of patients at different risk of relapse and may be a notable device to predict who truly benefits from medical treatment

Near-Real-Time Strong Motion Acquisition at National Scale and Automatic Analysis

A strong motion monitoring network records data that provide an excellent way to study how source, path, and site effects influence the ground motion, specifically in the near-source area. Such data are essential for updating seismic hazard maps and consequently building codes and earthquake-resistant design. This paper aims to present the Italian Strong Motion Network (RAN), describing its current status, employment, and further developments. It has 648 stations and is the result of a fruitful co-operation between the Italian government, regions, and local authorities. In fact, the network can be divided into three sub-networks: the Friuli Venezia Giulia Accelerometric Network, the Irpinia Seismic Network, and all the other stations. The Antelope software automatically collects, processes, and archives data in the data acquisition centre in Rome (Italy). The efficiency of the network on a daily basis is today more than 97%. The automatic and fast procedures that run in Antelope for the real-time strong motion data analysis are continuously improved at the University of Trieste: a large set of strong motion parameters and correspondent Ground Motion Prediction Equations allow ground shaking intensity maps to be provided for moderate to strong earthquakes occurring within the Italian territory. These maps and strong motion parameters are included in automatic reports generated for civil protection purposes

italian national survey on molecular epidemiology of pseudomonas aeruginosa from pulmonary infection of cystic fibrosis patients

Pulmonary infection sustained by Pseudomonas aeruginosa is the leading cause of morbidity and mortality of patients affected by Cystic Fibrosis (FC), the most common inherited disease among Caucasian. P. aeruginosa is a ubiquitous microorganism, widely diffuse in the natural and nosocomial environment; however the initial source of acquisition and the way of transmission of this pathogen among CF patients are not yet elucidated. The acquisition of P. aeruginosa by the environment and/or patients to patients transmission was speculated. Moreover in some countries (Australia, United Kingdom) some highly virulent and transmissible strains, called epidemic strains, have spread within the CF care Centres. Aim of the present study was to determine the presence of possible diffuse lineages and the cross-infection degree of P. aeruginosa among Italian CF patients. For this purpose we carried out a national survey, determining the genetic relationship, by molecular typing of a collection of 530 strains recovered from respiratory specimens of 335 patients colonised in follow-up at 8 Regional Reference CF Care Centres located in 3 geographic Italian areas.To investigate a possible environmental acquisition of P. aeruginosa, the genetic relationship between strains from FC, from natural environment, household and nosocomial sources. The molecular epidemiological survey was assessed using DNAfingerprinting methods (Box-PCR e Multi Locus Sequence Typing)

Pleuroparenchymal fibroelastosis in systemic sclerosis: prevalence and prognostic impact

..

Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer

<p>Abstract</p> <p>Background</p> <p>The purpose of our study was to compare differences in the prognosis of breast cancer (BC) patients at high (H) risk or intermediate slightly (IS) increased risk based on family history and those without a family history of BC, and to evaluate whether ten-year overall survival can be considered a good indicator of <it>BRCA1 </it>gene mutation.</p> <p>Methods</p> <p>We classified 5923 breast cancer patients registered between 1988 and 2006 at the Department of Oncology and Haematology in Modena, Italy, into one of three different risk categories according to Modena criteria. One thousand eleven patients at H and IS increased risk were tested for <it>BRCA1/2 </it>mutations. The overall survival (OS) and disease free survival (DFS) were the study end-points.</p> <p>Results</p> <p>Eighty <it>BRCA1 </it>carriers were identified. A statistically significantly better prognosis was observed for patients belonging to the H risk category with respect to women in the IS and sporadic groups (82% vs.75% vs.73%, respectively; p < 0.0001). Comparing only <it>BRCA1 </it>carriers with <it>BRCA-</it>negative and sporadic BC (77% vs.77% vs.73%, respectively; p < 0.001) an advantage in OS was seen.</p> <p>Conclusions</p> <p>Patients belonging to a population with a high probability of being <it>BRCA1 </it>carriers had a better prognosis than those with sporadic BC. Considering these results, women who previously had BC and had survived ten years could be selected for <it>BRCA1 </it>analysis among family members at high risk of hereditary BC during genetic counselling. Since only 30% of patients with a high probability of having hereditary BC have <it>BRCA1 </it>mutations, selecting women with a long term survival among this population could increase the rate of positive analyses, avoiding the use of expensive tests.</p

Prognosis of screen-detected breast cancers: results of a population based study

BACKGROUND: The reduced mortality rate from breast carcinoma among women offered screening mammography is demonstrated after 15–20 years of follow-up. However, the assessment of 5-year overall and event-free survival could represent an earlier measure of the efficacy of mammography screening program (MSP). METHODS: All cases of breast cancer diagnosed in the Province of Modena between years 1996 and 2000 in women aged 50 to 69 years, were identified through the Modena Cancer Registry (MCR). Stage of disease and treatment information were obtained from clinical records. All the events occurring up to June 30, 2003 were retrieved by experienced monitors. Five-year overall and event-free survival were the principal end-points of the study. RESULTS: During a 5-year period, 587 primary breast cancers were detected by the MSP and 471 primary breast cancers were diagnosed out of the MSP. The screen-detected breast cancers were smaller, more likely node negative, with low histological grade, low proliferative activity and positive receptors status. Furthermore, the breast cancer diagnosed through the MSP more frequently received a conservative surgery. The 5-year survival rate was 94% in the screen-detected group, versus 84% in the other group (p = 0.0001). The rate of 5-year event-free survival was 89% and 75% for the MSP participants and not participants, respectively (p = 0.0001). CONCLUSIONS: Our data confirm a favourable outcome of screen-detected breast cancers in terms of five-year overall and event-free survival, which reflect the good quality assurance parameters of the MSP. Finally, a cancer registry should be implemented in every area covered by screening programs

Standalone vertex finding in the ATLAS muon spectrometer

A dedicated reconstruction algorithm to find decay vertices in the ATLAS muon spectrometer is presented. The algorithm searches the region just upstream of or inside the muon spectrometer volume for multi-particle vertices that originate from the decay of particles with long decay paths. The performance of the algorithm is evaluated using both a sample of simulated Higgs boson events, in which the Higgs boson decays to long-lived neutral particles that in turn decay to bbar b final states, and pp collision data at √s = 7 TeV collected with the ATLAS detector at the LHC during 2011

Measurements of Higgs boson production and couplings in diboson final states with the ATLAS detector at the LHC

Measurements are presented of production properties and couplings of the recently discovered Higgs boson using the decays into boson pairs, H →γ γ, H → Z Z∗ →4l and H →W W∗ →lνlν. The results are based on the complete pp collision data sample recorded by the ATLAS experiment at the CERN Large Hadron Collider at centre-of-mass energies of √s = 7 TeV and √s = 8 TeV, corresponding to an integrated luminosity of about 25 fb−1. Evidence for Higgs boson production through vector-boson fusion is reported. Results of combined fits probing Higgs boson couplings to fermions and bosons, as well as anomalous contributions to loop-induced production and decay modes, are presented. All measurements are consistent with expectations for the Standard Model Higgs boson