Alien macrocrustaceans in freshwater ecosystems in the eastern part of Flanders (Belgium)

Biological invasions of freshwater macroinvertebrates are gaining more and more interest because the ecological and economical impact of some of these species is high. Since crustacean taxa appear to be successful groups invading new areas, an inventory of the macrocrustaceans in Flanders was made. At least 22 freshwater macrocrustacean species have been reported from Flemish water bodies. A detailed study of six canals, one small artificial watercourse and one natural river in the eastern part of Flanders revealed that invaders such as Dikerogammarus villosus, Gammarus tigrinus and Chelicorophium curvispinum are already quite common. Especially D. villosus is currently rapidly expanding and has a serious impact on native and other exotic gammarid species. Based on observations in neighbouring countries, several additional species are expected to arrive in the near future. A follow-up of the alien species together with a monitoring scheme to detect new incoming species is valuable to estimate the size of the problem and to be able to closely follow their ecological and economical impact

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple cafe-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P \u3c 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Background: Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated. Results: We analyze large NF1 deletions with non-recurrent breakpoints as a model to investigate the full spectrum of causative mechanisms, and observe that the

Management of Hepatic Angiomyolipoma

Preoperative diagnosis of hepatic angiomyolipoma is difficult, and the treatment for it remains controversial. The aim of this study is to review our experience in the treatment of hepatic angiomyolipoma and to propose a treatment strategy for this disease. We retrospectively collected the clinical, imaging, and pathological features of patients with hepatic angiomyolipoma. Immunohistochemical studies with antibodies for HMB-45, actin, S-100, cytokeratin, vimentin, and c-kit were performed. Treatment experience and long-term follow-up results are summarized. During a period of 9 years, 10 patients with hepatic angiomyolipoma were treated at our hospital. There was marked female predominance (nine patients). Nine patients received surgical resection without complications. One patient received nonoperative management with biopsy and follow-up. One patient died 11 months after surgery because of recurrent disease. We propose all symptomatic patients should receive surgical resection for hepatic angiomyolipoma. Conservative management with close follow-up is suggested in patients with asymptomatic tumors and meet the following criteria: (1) tumor size smaller than 5 cm, (2) angiomyolipoma proved through fine needle aspiration biopsy, (3) patients with good compliance, and (4) not a hepatitis virus carrier

ESGAP inventory of target indicators assessing antibiotic prescriptions: A cross-sectional survey

Background A variety of indicators is commonly used to monitor antibiotic prescriptions as part of national antimicrobial stewardship (AMS) programmes. Objectives To make an inventory of indicators that assess antibiotic prescriptions and are linked to specific targets and incentives, at a national level. Methods A cross-sectional survey (three-item questionnaire) was conducted in 2017 among all ESGAP (ESCMID Study Group for Antimicrobial stewardshiP) members, coming from 23 European countries and 16 non-European countries. Results Almost all (20/23, 87%) European countries belonging to the ESGAP network participated, as well as one non-European country. Computerized systems routinely linking antibiotic prescriptions to clinical diagnoses were reported for only two countries (Turkey and Croatia). Only 6/21 (29%) countries had national indicators with both clear targets and incentives (Bulgaria, Croatia, France, the Netherlands, Norway and Portugal). We identified a total of 21 different indicators used in these countries, 16 concerning inpatients (9 quality indicators and 7 quantity metrics) and 8 concerning outpatients (all quantity metrics); some indicators were used in both settings. Three types of incentives were used: financing mechanism, hospitals' accreditation and public reporting. Some respondents reported that such indicators with both clear targets and incentives were used at a regional level in their country (e.g. Andalusia in Spain and England in the UK). Conclusions National indicators, with clear targets and incentives, are not commonly used in Europe and we observed wide variations between countries regarding the selected indicators, the units of measure and the chosen targets

Status and future development of Heating and Current Drive for the EU DEMO

The European DEMO is a pulsed device with pulse length of 2 hours. The functions devoted to the heating and current drive system are: plasma breakdown, plasma ramp-up to the flat-top where fusion reactions occur, the control of the plasma during the flat-top phase, and finally the plasma ramp-down. The EU-DEMO project was in a Pre-Concept Design Phase during 2014-2020, meaning that in some cases, the design values of the device and the precise requirements from the physics point of view were not yet frozen. A total of 130 MW was considered for the all phases of the plasma: in the flat top, 30 MW is required for neoclassical tearing modes (NTM) control, 30 MW for burn control, and 70 MW for the control of thermal instability (TI), without any specific functions requested from each system, Electron Cyclotron (EC), Ion Cyclotron (IC), or Neutral Beam (NB) Injection. At the beginning of 2020, a strategic decision was taken, to consider EC as the baseline for the next phase (in 2021 and beyond). R&D on IC and NB will be risk mitigation measures. In parallel with progresses in Physics modelling, a decision point on the heating strategy will be taken by 2024. This paper describes the status of the R&D development during the period 2014-2020. It assumes that the 3 systems EC, IC and NB will be needed. For integration studies, they are assumed to be implemented at a power level of at least 50 MW. This paper describes in detail the status reached by the EC, IC and NB at the end of 2020. It will be used in the future for further development of the baseline heating method EC, and serves as starting point to further develop IC and NB in areas needed for these systems to be considered for DEMO

Status and future development of Heating and Current Drive for the EU DEMO

The European DEMO is a pulsed device with pulse length of 2 hours. The functions devoted to the heating and current drive system are: plasma breakdown, plasma ramp-up to the flat-top where fusion reactions occur, the control of the plasma during the flat-top phase, and finally the plasma ramp-down. The EU-DEMO project was in a Pre-Concept Design Phase during 2014-2020, meaning that in some cases, the design values of the device and the precise requirements from the physics point of view were not yet frozen. A total of 130 MW was considered for the all phases of the plasma: in the flat top, 30 MW is required for neoclassical tearing modes (NTM) control, 30 MW for burn control, and 70 MW for the control of thermal instability (TI), without any specific functions requested from each system, Electron Cyclotron (EC), Ion Cyclotron (IC), or Neutral Beam (NB) Injection. At the beginning of 2020, a strategic decision was taken, to consider EC as the baseline for the next phase (in 2021 and beyond). R&D on IC and NB will be risk mitigation measures. In parallel with progresses in Physics modelling, a decision point on the heating strategy will be taken by 2024. This paper describes the status of the R&D development during the period 2014-2020. It assumes that the 3 systems EC, IC and NB will be needed. For integration studies, they are assumed to be implemented at a power level of at least 50 MW. This paper describes in detail the status reached by the EC, IC and NB at the end of 2020. It will be used in the future for further development of the baseline heating method EC, and serves as starting point to further develop IC and NB in areas needed for these systems to be considered for DEMO

Medicina e Cirurgia de Animais de Companhia

NF1 mutations predispose to neurofibromatosis type 1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exome sequencing (WES), targeted genomic DNA based and RNA-based analysis of the NF1 gene. Deleterious NF1 pathogenic variants were identified in each woman. Frameshift mutations because of deletion/duplication/complex rearrangement were found in 50% (7/14) of the cases, nonsense mutations in 21% (3/14), in-frame splice mutations in 21% (3/14), and one case of missense mutation (7%, 1/14). No deleterious mutation was found in the following high/moderate-penetrance breast cancer genes: ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, FANCC, MRE11A, NBN, PALB2, PTEN, RAD50, RAD51C, TP53, and STK11. Twenty-five rare or common variants in cancer related genes were discovered and may have contributed to the breast cancers in these individuals. Breast cancer predisposition modifiers in women with NF1 may involve a great variety of molecular and cellular functions