Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the OncomineTM BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers

Optical sideband generation up to room temperature with mid-infrared quantum cascade lasers

Room temperature sideband generation on an optical carrier is demonstrated using midinfrared quantum cascade lasers. This is achieved via an enhancement of the nonlinear susceptibility via resonant interband and intersubband excitations, compensating the large phase-mismatch

"I want to be a furious leopard with magical wings and super power": developing an ethico-interpretive framework for detecting Chinese students' funds of identity

The Avatar Project was a two-week English project in which Chinese high school students in an internationalised school in Shanghai China explored the topic of cultural and individual identity. The project synthesised prospective education with the Funds of Identity approach, both of which have particular relevance within an internationalised teaching context. During the project, students created three identity texts: a written reflection, a word cloud and an avatar which were later used as data for this article. This article presents findings from the project and critically evaluates the effectiveness of avatars and word clouds as strategies for detecting students’ funds of identity. A multimodal approach to data collection and analysis was adopted in order to ensure that the interpretation of students’ work remained situated within their lived experience. The project revealed the existence of social, practical, institutional and cultural funds of identity. However, it also detected more problematic forms of funds of identity related to political and philosophical beliefs which I label ideological and existential funds of identity. While avatars and word clouds were effective in drawing out students’ out-of-school identities, the written reflections were ultimately more useful in revealing students’ funds of identity and also ensuring that any interpretations remained within the participants’ horizon of intended meaning. The project also brought about significant transformation in the way I viewed my students

Conservative surgery with and without radiotherapy in elderly patients with early-stage breast cancer: a prospective randomised multicentre trial. Breast 2009

a b s t r a c t Breast conserving therapy (BCT) including postoperative irradiation of the remaining breast tissue is generally accepted as the best treatment for the majority of patients with early-stage breast cancer. The question is whether there is a necessity for irradiating all patients. Between 2001 and 2005, 749 women aged 55-75 years with infiltrating breast carcinoma were randomly assigned to breast conservative surgery, with or without radiotherapy (RT), to evaluate the incidence of in-breast recurrence (IBR). After 5 years of median follow-up, the cumulative incidence of IBR was 2.5% in the surgery-only arm and 0.7% in the surgery plus RT arm. There are no differences in terms of overall survival and distant disease-free survival. The preliminary evaluation suggests that breast irradiation after conservative surgery can be avoided without exposing these patients to an increased risk of distant-disease recurrence. Prolonged follow-up will further clarify the possible risks and late sequelae potentially induced by breast RT

Groundwater of Rome

This paper describes the contents of the new Hydrogeological Map of the City of Rome (1:50,000 scale). The map extends to the entire municipality (1285 km2) and is based on both the most recent scientific studies on the groundwater field and new survey activities carried out in order to fill the data gaps in several areas of the examined territory. The map is the result of a combination of different urban groundwater expertise and Geographic Information System (GIS)-based mapping performed using the most recent available data and has been produced with the intention of furnishing the City of Rome with the most recent and updated information regarding groundwater

Short THz pulse generation from a dispersion compensated modelocked quantum cascade laser

Dispersion compensation is vital for the generation of ultrashort and single cycle pulses from modelocked lasers across the electromagnetic spectrum. However, no such scheme have been successfully applied to terahertz (THz) quantum cascade lasers (QCL) for short and stable pulse generation in the THz range. Here we show a monolithic on-chip compensation scheme for a modelocked QCL, permitting THz pulses to be considerably shortened from 16ps to 4ps. This is based on the realization of a small coupled cavity resonator that acts as an 'off resonance' Gires-Tournois interferometer (GTI), permitting large THz spectral bandwidths to be compensated

Photonic quasi-crystal terahertz lasers

Quasi-crystal structures do not present a full spatial periodicity but are nevertheless constructed starting from deterministic generation rules. When made of different dielectric materials, they often possess fascinating optical properties, which lie between those of periodic photonic crystals and those of a random arrangement of scatterers. Indeed, they can support extended band-like states with pseudogaps in the energy spectrum, but lacking translational invariance, they also intrinsically feature a pattern of ‘defects’, which can give rise to critically localized modes confined in space, similar to Anderson modes in random structures. If used as laser resonators, photonic quasi-crystals open up design possibilities that are simply not possible in a conventional periodic photonic crystal. In this letter, we exploit the concept of a 2D photonic quasi crystal in an electrically injected laser; specifically, we pattern the top surface of a terahertz quantum-cascade laser with a Penrose tiling of pentagonal rotational symmetry, reaching 0.1–0.2% wall-plug efficiencies and 65 mW peak output powers with characteristic surface-emitting conical beam profiles, result of the rich quasi-crystal Fourier spectrum

A database of the coseismic effects following the 30 October 2016 Norcia earthquake in Central Italy

We provide a database of the coseismic geological surface effects following the Mw 6.5 Norcia earthquake that hit central Italy on 30 October 2016. This was one of the strongest seismic events to occur in Europe in the past thirty years, causing complex surface ruptures over an area of >400 km 2. The database originated from the collaboration of several European teams (Open EMERGEO Working Group; about 130 researchers) coordinated by the Istituto Nazionale di Geofisica e Vulcanologia. The observations were collected by performing detailed field surveys in the epicentral region in order to describe the geometry and kinematics of surface faulting, and subsequently of landslides and other secondary coseismic effects. The resulting database consists of homogeneous georeferenced records identifying 7323 observation points, each of which contains 18 numeric and string fields of relevant information. This database will impact future earthquake studies focused on modelling of the seismic processes in active extensional settings, updating probabilistic estimates of slip distribution, and assessing the hazard of surface faulting

Archivio centralizzato SICO per il carcinoma della tiroide. Analisi interpretativa preliminare dei fattori prognostici.

Società Italiana Endocrinochirurgi