Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies

Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by incomplete penetrance and variable expressivity. Design: Clinical standardized assessment of 14 family members and a whole-exome sequencing (WES) of three affected subjects were performed. WES data analyses (sequence alignment, variant calling, annotation and prioritization) were carried out using an in-house implemented pipeline. Variant filtering retained coding and splice-site high quality private and rare variants. Variant prioritization was performed taking into account both the disruptive impact and the biological relevance of individual variants and genes. Sanger sequencing was performed to validate the variants of interest and to carry out segregation analysis. Results: Prioritization of variants “by function” allowed the identification of multiple variants contributing to the trait, including two concomitant heterozygous variants in EDARADD (c.308C>T, p.Ser103Phe) and COL5A1 (c.1588G>A, p.Gly530Ser), specifically associated with a more severe phenotype (i.e. canine agenesis). Differently, heterozygous variants in genes encoding proteins with a role in the WNT pathway were shared by subjects showing a phenotype of impacted/ectopic erupted canines. Conclusions: This study characterized the genetic contribution underlying a complex trait consisting of isolated canine anomalies in a medium-sized family, highlighting the role of WNT and EDA cell signaling pathways in tooth development

ABSOLUTE AND RELATIVE GRAVITY MEASUREMENTS AT ETNA VOLCANO (ITALY)

Employing both absolute and relative gravimeters, we carried out three hybrid microgravity surveys at Etna volcano between 2007 and 2009. The repeated measurements highlighted the spatio-time evolution of the gravity field associated with the volcanic unrest. We detected a gravity increase attained an amplitude of about 80 µGal on the summit area of the volcano between July 2008 and July 2009. The observed gravity increase could reflect mass accumulations into shallow magma storage system of the volcano located at 1÷2 km below sea level. We present here data and the advantages in using the combined approach of relative and absolute measurements performed at Etna volcano.PublishedSaint Petersburg, Russia2.6. TTC - Laboratorio di gravimetria, magnetismo ed elettromagnetismo in aree attiveope

Patient Age Is an Independent Risk Factor of Relapse of Differentiated Thyroid Carcinoma and Improves the Performance of the American Thyroid Association Stratification System

Background: The 2015 American Thyroid Association (ATA) guidelines proposed a three-category system for estimating the risk of recurrence of differentiated thyroid carcinoma (DTC). This system includes several perioperative features, but not age at diagnosis. However, age has traditionally been recognized as a critical factor in the survival of DTC patients, and the eighth edition of TNM stated that patients older than 55 years were at higher risk of death. In this study, we raised the question of whether age at DTC diagnosis impacts on its risk of recurrence. Specifically, the present study aimed to (i) evaluate the association between age at diagnosis and structural recurrence and (ii) investigate whether age at diagnosis could improve the performance of the ATA system. Methods: During the study period, four institutions selected DTC patients treated with both thyroidectomy and radioiodine and who had follow-up for at least one year. Patients with proven structural evidence of disease during follow-up were identified, and disease-free survival (DFS) was calculated accordingly. Results: The study involved 1603 DTC patients with a median age of 49 years and DFS of 44 months. Disease recurred in 8%. The shortest DFS was found in the oldest patients. The Kaplan-Meier curves were calculated for each decade of age, and there was a significant association with DFS (p = 0.0014). Patients older than 55 years had significantly higher risk (hazard ratio [HR] 1.78, 95% confidence interval [CI 1.23-2.56]). The Kaplan-Meier curves of DFS in high-, intermediate-and low-risk groups showed a significant association only in the high-risk group (p = 0.0058). Patients older than 55 years had significantly higher risk of relapse over time only in the high-risk group (HR 2.15 [CI 2.01-4.53]). Cox's proportional analysis showed that the age cutoff of 55 years and the ATA system were significant predictors of relapse. Adding age at diagnosis above 55 years to the ATA system identified a subgroup of patients at highest risk for relapse. Conclusions: The age threshold adopted in the eighth edition of TNM staging system for DTC patients' prognosis also identifies cases at higher risk of relapse. Applying age at diagnosis, with a cutoff of 55 years, to the ATA risk stratification system identifies cases at highest risk of relapse

Long-acting combination of cabotegravir plus rilpivirine: A picture of potential eligible and ineligible HIV-positive individuals from the Italian ARCA cohort

Objectives: We aimed to evaluate the prevalence and characteristics of people living with HIV (PLWH) eligible for the long-acting injectable (LAI) regimen with cabotegravir (CAB) and rilpivirine (RPV), in comparison with ineligible individuals. Methods: This was an observational, cross-sectional study from the ARCA cohort, including virologically suppressed PLWH with at least one genotypic resistance testing (GRT) for reverse transcriptase and integrase from plasma and/or PBMCs. Eligibility criteria for LAI CAB+RPV were: negative HBsAg, absence of previous virological failures and/or resistance-associated mutations for non-nucleoside reverse transcriptase inhibitors (NNRTIs) and/or integrase strand transfer inhibitors. Potential differences between eligible and ineligible individuals were investigated by univariable and multivariable analyses. Results: A total of 514 individuals were included: 377 (73.3%) were male, median age was 51 (IQR: 43–58), on ART for 9 years (IQR: 4–17), virologically suppressed for 63 months (IQR: 35–105). Eligible individuals for CAB+RPV were 229 (44.5%, 95%CI: 40.8–48.8); compared with ineligible individuals, they received a lower number of previous regimens (aOR 0.76, 95% CI 0.71–0.83, P < 0.001) and were on current NNRTIs (aOR 2.16, 95% CI 1.38–3.37, P = 0.001). Conclusions: Less than half of virologically suppressed PLWH in the ARCA cohort were potentially eligible for CAB+RPV. They seem to be “less complicated” with shorter exposure to ART and preferably already on NNRTIs

Changes of solar cell parameters during damp-heat exposure

The electrical ageing of photovoltaic modules during extended damp-heat tests at different stress levels is investigated for three types of crystalline silicon photovoltaic modules with different backsheets, encapsulants and cell types. Deploying different stress levels allows determination of an equivalent stress dose function, which is a first step towards a lifetime prediction of devices. The derived humidity dose is used to characterise the degradation of power as well as that of the solar cell's equivalent circuit parameters calculated from measured current–voltage characteristics. An application of this to the samples demonstrates different modes in the degradation and thus enables better understanding of the module's underlying ageing mechanisms. The analysis of changes in the solar cell equivalent circuit parameters identified the primary contributors to the power degradation and distinguished the potential ageing mechanism for each types of module investigated in this paper. © 2016 The Authors. Progress in Photovoltaics: Research and Applications published by John Wiley & Sons Ltd. © 2016 The Authors. Progress in Photovoltaics: Research and Applications published by John Wiley & Sons Ltd.This work was supported in part by the European Commission under FP7 grant N° 262533 SOPHIA (INFRA-2010- 1.1.22_CP-CSA-Infra) and by the Research Councils UK (RCUK) under project ‘Stability and Performance of Photovoltaics (STAPP)’ (contract no: EP/H040331/1)

New Mediterranean biodiversity records (July 2018)

In the present article, new records are given for 15 species (4 native and 9 alien and 2 cryptogenic), belonging to 6 Phyla (i.e. Chlorophyta, Ctenophora, Cnidaria, Mollusca, Arthropoda, and Chordata), from 10 Mediterranean countries: Morocco: the finding of the crab Callinectes sapidus represents the westernmost one of the species in the Mediterranean; Italy: first records of the nudibranch Polycera hedgpethi from the harbour of La Spezia, and first finding of the invasive ctenophore Mnemiopsis leidyi in the Fiora River; Tunisia: Caulerpa taxifolia var. distichophylla is recorded for the first time, showing an even wider distribution in the Mediterranean; Greece: the finding of the jellyfish Pelagia benovici represents the first record of the species in the Ionian Sea, while the finding of the smallscale codlet Bregmaceros nectabanus in the Ionian Sea is another interesting first report for the area; Malta: the cryptogenic scleractinian coral Oculina patagonica was recorded; Slovenia: the parasitic copepod Demoleus heptapus was recorded from a sixgill bluntnose shark, Hexanchus griseus; Croatia: the Lessepsian cephalaspidean mollusc Haminoea cyanomarginata is recorded for the first time from the area; Bulgaria: the Asian date mussel Arcuatula senhousia was recorded from the Black Sea; Cyprus: the Lessepsian gastropod Viriola sp. [cf. corrugata) was recorded for the first time from the area, while two decapod species were recorded also for the first time from Cyprus, i.e. the caridean shrimp Pasiphaea sivado and the anomuran Munida curvimana; Turkey: the acari Lohmannella falcata is recorded for the first time from Antalya and the Lessepsian fish Priacanthus sagittarius in the Levantine coasts of Turkey (off Hatay/Arsuz) showing that this species has extended its range in a very short time.peer-reviewe

CDMSlite: A Search for Low-Mass WIMPs using Voltage-Assisted Calorimetric Ionization Detection in the SuperCDMS Experiment

SuperCDMS is an experiment designed to directly detect Weakly Interacting Massive Particles (WIMPs), a favored candidate for dark matter ubiquitous in the Universe. In this paper, we present WIMP-search results using a calorimetric technique we call CDMSlite, which relies on voltage- assisted Luke-Neganov amplification of the ionization energy deposited by particle interactions. The data were collected with a single 0.6 kg germanium detector running for 10 live days at the Soudan Underground Laboratory. A low energy threshold of 170 eVee (electron equivalent) was obtained, which allows us to constrain new WIMP-nucleon spin-independent parameter space for WIMP masses below 6 GeV/c2.Comment: 7 pages, 4 figure

Results from the Super Cryogenic Dark Matter Search (SuperCDMS) experiment at Soudan

We report the result of a blinded search for Weakly Interacting Massive Particles (WIMPs) using the majority of the SuperCDMS Soudan dataset. With an exposure of 1690 kg days, a single candidate event is observed, consistent with expected backgrounds. This analysis (combined with previous Ge results) sets an upper limit on the spin-independent WIMP--nucleon cross section of $1.4 \times 10^{-44}$ ($1.0 \times 10^{-44}$) cm$^2$ at 46 GeV/$c^2$. These results set the strongest limits for WIMP--germanium-nucleus interactions for masses $>$12 GeV/$c^2$