| 1. |
|
|
| 2. |
|
|
| 3. |
- Oberemok, Volodymyr V., et al.
(author)
-
Molecular Alliance of Lymantria dispar Multiple Nucleopolyhedrovirus and a Short Unmodified Antisense Oligonucleotide of Its Anti-Apoptotic IAP-3 Gene : A Novel Approach for Gypsy Moth Control
- 2017
-
In: International Journal of Molecular Sciences. - : MDPI AG. - 1661-6596 .- 1422-0067. ; 18:11
-
Journal article (peer-reviewed)abstract
- Baculovirus IAP (inhibitor-of-apoptosis) genes originated by capture of host genes. Unmodified short antisense DNA oligonucleotides (oligoDNAs) from baculovirus IAP genes can down-regulate specific gene expression profiles in both baculovirus-free and baculovirus-infected insects. In this study, gypsy moth (Lymantria dispar) larvae infected with multiple nucleopolyhedrovirus (LdMNPV), and LdMNPV-free larvae, were treated with oligoDNA antisense to the RING (really interesting new gene) domain of the LdMNPV IAP-3 gene. The results with respect to insect mortality, biomass accumulation, histological studies, RT-PCR, and analysis of DNA apoptotic fragmentation suggest that oligoRING induced increased apoptotic processes in both LdMNPV-free and LdMNPV-infected insect cells, but were more pronounced in the latter. These data open up possibilities for promising new routes of insect pest control using antisense phosphodiester DNA oligonucleotides.
|
|
| 4. |
- Thompson, B.A., et al.
(author)
-
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
-
Journal article (peer-reviewed)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
|
|
| 5. |
- Bousquet, Jean, et al.
(author)
-
Allergic Rhinitis and its Impact on Asthma (ARIA) Phase 4 (2018) : Change management in allergic rhinitis and asthma multimorbidity using mobile technology
- 2019
-
In: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 143:3, s. 864-879
-
Journal article (peer-reviewed)abstract
- Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline by using the best approach to integrated care pathways using mobile technology in patients with allergic rhinitis (AR) and asthma multimorbidity. The proposed next phase of ARIA is change management, with the aim of providing an active and healthy life to patients with rhinitis and to those with asthma multimorbidity across the lifecycle irrespective of their sex or socioeconomic status to reduce health and social inequities incurred by the disease. ARIA has followed the 8-step model of Kotter to assess and implement the effect of rhinitis on asthma multimorbidity and to propose multimorbid guidelines. A second change management strategy is proposed by ARIA Phase 4 to increase self-medication and shared decision making in rhinitis and asthma multimorbidity. An innovation of ARIA has been the development and validation of information technology evidence-based tools (Mobile Airways Sentinel Network [MASK]) that can inform patient decisions on the basis of a self-care plan proposed by the health care professional.
|
|
| 6. |
- Kirdyanov, Alexander V., et al.
(author)
-
Ecological and conceptual consequences of Arctic pollution
- 2020
-
In: Ecology Letters. - : Wiley. - 1461-023X .- 1461-0248. ; 23:12, s. 1827-1837
-
Journal article (peer-reviewed)abstract
- Although the effect of pollution on forest health and decline received much attention in the 1980s, it has not been considered to explain the 'Divergence Problem' in dendroclimatology; a decoupling of tree growth from rising air temperatures since the 1970s. Here we use physical and biogeochemical measurements of hundreds of living and dead conifers to reconstruct the impact of heavy industrialisation around Norilsk in northern Siberia. Moreover, we develop a forward model with surface irradiance forcing to quantify long-distance effects of anthropogenic emissions on the functioning and productivity of Siberia's taiga. Downwind from the world's most polluted Arctic region, tree mortality rates of up to 100% have destroyed 24,000 km(2)boreal forest since the 1960s, coincident with dramatic increases in atmospheric sulphur, copper, and nickel concentrations. In addition to regional ecosystem devastation, we demonstrate how 'Arctic Dimming' can explain the circumpolar 'Divergence Problem', and discuss implications on the terrestrial carbon cycle.
|
|
| 7. |
- Menditto, Enrica, et al.
(author)
-
Adherence to treatment in allergic rhinitis using mobile technology : The MASK Study
- 2019
-
In: Clinical and Experimental Allergy. - : WILEY. - 0954-7894 .- 1365-2222. ; 49:4, s. 442-460
-
Journal article (peer-reviewed)abstract
- Background: Mobile technology may help to better understand the adherence to treatment. MASK-rhinitis (Mobile Airways Sentinel NetworK for allergic rhinitis) is a patient-centred ICT system. A mobile phone app (the Allergy Diary) central to MASK is available in 22 countries. Objectives: To assess the adherence to treatment in allergic rhinitis patients using the Allergy Diary App. Methods: An observational cross-sectional study was carried out on all users who filled in the Allergy Diary from 1 January 2016 to 1 August 2017. Secondary adherence was assessed by using the modified Medication Possession Ratio (MPR) and the Proportion of days covered (PDC) approach. Results: A total of 12143 users were registered. A total of 6949 users reported at least one VAS data recording. Among them, 1887 users reported >= 7 VAS data. About 1195 subjects were included in the analysis of adherence. One hundred and thirty-six (11.28%) users were adherent (MPR >= 70% and PDC <= 1.25), 51 (4.23%) were partly adherent (MPR >= 70% and PDC = 1.50) and 176 (14.60%) were switchers. On the other hand, 832 (69.05%) users were non-adherent to medications (MPR <70%). Of those, the largest group was non-adherent to medications and the time interval was increased in 442 (36.68%) users. Conclusion and clinical relevance: Adherence to treatment is low. The relative efficacy of continuous vs on-demand treatment for allergic rhinitis symptoms is still a matter of debate. This study shows an approach for measuring retrospective adherence based on a mobile app. This also represents a novel approach for analysing medication-taking behaviour in a real-world setting.
|
|
| 8. |
- Babenko, Vladislav V., et al.
(author)
-
Draft genome sequences of Hirudo medicinalis and salivary transcriptome of three closely related medicinal leeches
- 2020
-
In: BMC Genomics. - : Springer Science and Business Media LLC. - 1471-2164. ; 21:1
-
Journal article (peer-reviewed)abstract
- BackgroundSalivary cell secretion (SCS) plays a critical role in blood feeding by medicinal leeches, making them of use for certain medical purposes even today.ResultsWe annotated the Hirudo medicinalis genome and performed RNA-seq on salivary cells isolated from three closely related leech species, H. medicinalis, Hirudo orientalis, and Hirudo verbana. Differential expression analysis verified by proteomics identified salivary cell-specific gene expression, many of which encode previously unknown salivary components. However, the genes encoding known anticoagulants have been found to be expressed not only in salivary cells. The function-related analysis of the unique salivary cell genes enabled an update of the concept of interactions between salivary proteins and components of haemostasis.ConclusionsHere we report a genome draft of Hirudo medicinalis and describe identification of novel salivary proteins and new homologs of genes encoding known anticoagulants in transcriptomes of three medicinal leech species. Our data provide new insights in genetics of blood-feeding lifestyle in leeches.
|
|
| 9. |
- Abbafati, Cristiana, et al.
(author)
-
- 2020
-
Journal article (peer-reviewed)
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
- Rodina, Tatyana A., et al.
(author)
-
Crystalline O,O’-di-sec-butyl and O,O’-diethyl dithiophosphate platinum(II) complexes : Synthesis, 13C and 31P CP/MAS NMR, single crystal X-ray diffraction studies and thermal behaviour
- 2011
-
In: Polyhedron. - : Elsevier BV. - 0277-5387 .- 1873-3719. ; 30:13, s. 2210-2217
-
Journal article (peer-reviewed)abstract
- Crystalline bis(O,O’-di-sec-butyldithiophosphato)platinum(II) was prepared and studied by means of 31P, 13C CP/MAS NMR spectroscopy and single-crystal X-ray diffraction. The unit cell of the platinum(II) compound is comprised of one centrosymmetric mononuclear molecule [Pt{S2P(O-sec-C4H9)2}2], in which the dithiophosphate groups display structural equivalence in both 31P NMR and XRD data. A pair of the dithiophosphate ligands exhibit the same S,S’-bidentate chelating structural function and form two planar four-membered chelate rings, [PtS2P], in this molecule. The planar configuration of the [PtS4] chromophore in structure 1 is governed by the dsp2-hybrid state of platinum(II). The structural states of the dithiophosphate groups in two different samples of complex 1 (one crystallised from ethanol and the other one precipitated from an aqueous solution) are all characterised by almost rhombic 31P chemical shift tensors. The observed essential dispersion of the 31P NMR chemical shift is caused by a coexistence of six optical isomers of molecule 1. The thermal behaviour of this compound was studied by means of simultaneous thermal analysis (a combination of TG and DSC) under an argon atmosphere. The thermal behaviour shows that the mass of 1 is lost in three steps, involving successive thermal decompositions of the organic and inorganic parts of this compound with platinum(II) dithio-meta-phosphate and reduced metallic platinum as the intermediate and the final products, respectively.
|
|
| 15. |
- Rodina, Tatyana A., et al.
(author)
-
Fixation modes of gold(III) from solutions using cadmium(II) dithiocarbamates : Preparation, supramolecular structure and thermal behaviour of polynuclear and heteropolynuclear gold(III) complexes: bis(N,N-dialkyldithiocarbamato-S,S’)gold(III) polychlorometallates, [Au(S2CNR2)2]nX (n =1: X = [AuCl4]–; n = 2: X = [CdCl4]2–, [Cd2Cl6]2–)
- 2012
-
In: Polyhedron. - : Elsevier BV. - 0277-5387 .- 1873-3719. ; 40:1, s. 53-64
-
Journal article (peer-reviewed)abstract
- Four novel heteropolynuclear and polynuclear complexes of the general formulae [Au(S2CNR2)2]2X (X = [CdCl4]2-, R = CH3 (1); X = [Cd2Cl6]2-, R = C3H7 (2)) and [Au(S2CNR2)2][AuCl4] (R = iso-C3H7 (3); R = iso-C4H9 (4)) were prepared using heterogeneous reactions between appropriate freshly precipitated binuclear cadmium(II) dialkyl dithiocarbamates and AuCl3 in 2 M hydrochloric acid. The isolated complexes were studied by 13C CP/MAS NMR spectroscopy, single-crystal X-ray diffraction and simultaneous thermal analysis (STA) under an argon atmosphere. In all molecular structures (1–4), one of the gold atoms coordinates two dialkyl dithiocarbamate ligands in the S,S’-bidentate mode, forming a square-planar coordination polygon [AuS4], while the other gold atom (in 3 and 4) has four neighbouring chlorine atoms [AuCl4]. At the supramolecular level, compounds 1 and 2 comprise binuclear cations, [Au2{S2CN(CH3)2}4]2+ and polynuclear chains, ([Au{S2CN(C3H7)2}2]+)n in a combination with [CdCl4]2- and [Cd2Cl6]2- anions, respectively. Unexpected structural distinctions at the supramolecular level were discovered for the chemically related compounds 3 and 4. In these ionic complexes, there are either cationic trinuclear formations, {[Au{S2CN(iso-C3H7)2}2]2[AuCl4]}+, or polynuclear chains, ([Au{S2CN(iso-C4H9)2}2]+)n, both combined with [AuCl4]– anions, in the structural basis of compounds 3 and 4, respectively.
|
|
| 16. |
- Abraham, Roshan Mammen, et al.
(author)
-
Tau neutrinos in the next decade : from GeV to EeV
- 2022
-
In: Journal of Physics G. - : Institute of Physics Publishing (IOPP). - 0954-3899 .- 1361-6471. ; 49:11
-
Journal article (peer-reviewed)abstract
- Tau neutrinos are the least studied particle in the standard model. This whitepaper discusses the current and expected upcoming status of tau neutrino physics with attention to the broad experimental and theoretical landscape spanning long-baseline, beam-dump, collider, and astrophysical experiments. This whitepaper was prepared as a part of the NuTau2021 Workshop.
|
|
| 17. |
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
- Budnyak, Tetyana, et al.
(author)
-
Imidazole-2yl-Phosphonic Acid Derivative Grafted onto Mesoporous Silica Surface as a Novel Highly Effective Sorbent for Uranium(VI) Ion Extraction
- 2018
-
In: ACS Applied Materials and Interfaces. - : AMER CHEMICAL SOC. - 1944-8244 .- 1944-8252. ; 10:7, s. 6681-6693
-
Journal article (peer-reviewed)abstract
- A new imidazol-2yl-phosphonic acid/mesoporous silica sorbent (ImP(O)(OH)(2)/SiO2) was developed and applied for uranium(VI) ion removal from aqueous solutions. The synthesized material was characterized by fast kinetics and an extra-high adsorption capacity with respect to uranium. The highest adsorption efficiency of U(VI) ions was obtained for the reaction system at pH 4 and exceeded 618 mg/g. The uranium(VI) sorption proceeds quickly in the first step within 60 min of the adsorbent sites and ion interactions. Moreover, the equilibrium time was determined to be 120 min. The equilibrium and kinetic characteristics of the uranium(VI) ions uptake by synthesized sorbent was found to follow the Langmuir-Freundlich isotherm model and pseudo-second-order kinetics rather than the Langmuir, Dubinin-Radushkevich, and Temkin models and pseudo-first-order or intraparticle diffusion sorption kinetics. The adsorption mechanism for uranium on the sorbent was clarified basing on the X-ray photoelectron spectroscopy (XPS) analysis. The model of UO22+ binding to surface of the sorbent was proposed according to the results of XPS, i.e., a 1:1 U-to-P ratio in the sorbed complex was established. The regeneration study confirms the ImP(O)(OH)(2)/SiO2 sorbent can be reused. A total of 45% of uranium ions was determined as originating from the sorbent leaching in the acidic solutions, whereas when the basic solutions were used, the removal efficiency was 12%.
|
|
| 21. |
- Chen, Weidong, et al.
(author)
-
Narrowband BaGa2GeSe6 Optical Parametric Oscillator Pumped in an Intracavity Cascade Configuration
- 2023
-
In: Proceedings - Optica Nonlinear Optics Topical Meeting 2023, NLO 2023. - : Optical Society of America.
-
Conference paper (peer-reviewed)abstract
- We present a tunable (6.62-11.34 µm), singly-resonant, cascade optical parametric oscillator with intracavity pumping of BaGa2GeSe6 in the second stage and spectral narrowing realized by a Volume Bragg Grating, providing millijoule output at 100 Hz.
|
|
| 22. |
- Connolly, S., et al.
(author)
-
Rationale and design of ACTIVE: the atrial fibrillation clopidogrel trial with irbesartan for prevention of vascular events
- 2006
-
In: American heart journal. - 1097-6744. ; 151:6, s. 1187-93
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Atrial fibrillation (AF) is the most frequently occurring cardiac arrhythmia with often serious clinical consequences. Many patients have contraindications to anticoagulation, and it is often underused in clinical practice. The addition of clopidogrel to aspirin (ASA) has been shown to reduce vascular events in a number of high-risk populations. Irbesartan is an angiotensin receptor-blocking agent that reduces blood pressure and has other vascular protective effects. METHODS AND RESULTS: ACTIVE W is a noninferiority trial of clopidogrel plus ASA versus oral anticoagulation in patients with AF and at least 1 risk factor for stroke. ACTIVE A is a double-blind, placebo-controlled trial of clopidogrel in patients with AF and with at least 1 risk factor for stroke who receive ASA because they have a contraindication for oral anticoagulation or because they are unwilling to take an oral anticoagulant. ACTIVE I is a partial factorial, double-blind, placebo-controlled trial of irbesartan in patients participating in ACTIVE A or ACTIVE W. The primary outcomes of these studies are composites of vascular events. A total of 14000 patients will be enrolled in these trials. CONCLUSIONS: ACTIVE is the largest trial yet conducted in AF. Its results will lead to a new understanding of the role of combined antiplatelet therapy and the role of blood pressure lowering with an angiotensin II receptor blocker in patients with AF.
|
|
| 23. |
- Feigin, Valery L., et al.
(author)
-
Global, regional, and national burden of stroke and its risk factors, 1990-2019 : a systematic analysis for the Global Burden of Disease Study 2019
- 2021
-
In: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 20:10, s. 795-820
-
Journal article (peer-reviewed)abstract
- Background Regularly updated data on stroke and its pathological types, including data on their incidence, prevalence, mortality, disability, risk factors, and epidemiological trends, are important for evidence-based stroke care planning and resource allocation. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) aims to provide a standardised and comprehensive measurement of these metrics at global, regional, and national levels. Methods We applied GBD 2019 analytical tools to calculate stroke incidence, prevalence, mortality, disability-adjusted life-years (DALYs), and the population attributable fraction (PAF) of DALYs (with corresponding 95% uncertainty intervals [UIs]) associated with 19 risk factors, for 204 countries and territories from 1990 to 2019. These estimates were provided for ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage, and all strokes combined, and stratified by sex, age group, and World Bank country income level. Findings In 2019, there were 12.2 million (95% UI 11.0-13.6) incident cases of stroke, 101 million (93.2-111) prevalent cases of stroke, 143 million (133-153) DALYs due to stroke, and 6.55 million (6.00-7.02) deaths from stroke. Globally, stroke remained the second-leading cause of death (11.6% [10.8-12.2] of total deaths) and the third-leading cause of death and disability combined (5.7% [5.1-6.2] of total DALYs) in 2019. From 1990 to 2019, the absolute number of incident strokes increased by 70.0% (67.0-73.0), prevalent strokes increased by 85.0% (83.0-88.0), deaths from stroke increased by 43.0% (31.0-55.0), and DALYs due to stroke increased by 32.0% (22.0-42.0). During the same period, age-standardised rates of stroke incidence decreased by 17.0% (15.0-18.0), mortality decreased by 36.0% (31.0-42.0), prevalence decreased by 6.0% (5.0-7.0), and DALYs decreased by 36.0% (31.0-42.0). However, among people younger than 70 years, prevalence rates increased by 22.0% (21.0-24.0) and incidence rates increased by 15.0% (12.0-18.0). In 2019, the age-standardised stroke-related mortality rate was 3.6 (3.5-3.8) times higher in the World Bank low-income group than in the World Bank high-income group, and the age-standardised stroke-related DALY rate was 3.7 (3.5-3.9) times higher in the low-income group than the high-income group. Ischaemic stroke constituted 62.4% of all incident strokes in 2019 (7.63 million [6.57-8.96]), while intracerebral haemorrhage constituted 27.9% (3.41 million [2.97-3.91]) and subarachnoid haemorrhage constituted 9.7% (1.18 million [1.01-1.39]). In 2019, the five leading risk factors for stroke were high systolic blood pressure (contributing to 79.6 million [67.7-90.8] DALYs or 55.5% [48.2-62.0] of total stroke DALYs), high body-mass index (34.9 million [22.3-48.6] DALYs or 24.3% [15.7-33.2]), high fasting plasma glucose (28.9 million [19.8-41.5] DALYs or 20.2% [13.8-29.1]), ambient particulate matter pollution (28.7 million [23.4-33.4] DALYs or 20.1% [16.6-23.0]), and smoking (25.3 million [22.6-28.2] DALYs or 17.6% [16.4-19.0]). Interpretation The annual number of strokes and deaths due to stroke increased substantially from 1990 to 2019, despite substantial reductions in age-standardised rates, particularly among people older than 70 years. The highest age-standardised stroke-related mortality and DALY rates were in the World Bank low-income group. The fastest-growing risk factor for stroke between 1990 and 2019 was high body-mass index. Without urgent implementation of effective primary prevention strategies, the stroke burden will probably continue to grow across the world, particularly in low-income countries.
|
|
| 24. |
- Ivanov, Alexander, et al.
(author)
-
A fixation mode of gold from solutions using heterogeneous reaction of cadmium dicyclohexyl dithiophosphate with H[AuCl4]. Structural and (13C, 31P) CP/MAS NMR studies and thermal behaviour of crystalline polymeric gold(I) dicyclohexyl dithiophosphate and bis(dicyclohexylthiophosphoryl) disulphide
- 2013
-
In: Journal of Molecular Structure. - : Elsevier BV. - 0022-2860 .- 1872-8014. ; 1034, s. 152-161
-
Journal article (peer-reviewed)abstract
- Two novel compounds: polynuclear catena-poly[bis(3-O,O’-di-cyclo-hexyldithiophosphato-S,S,S’)digold(I)] (Au–Au) (1) and crystalline bis(O,O’-di-cyclo-hexylthiophosphoryl)disulphide, (cyclo-C6H11O)2P(S)S–S(S)P(O-cyclo-C6H11) (2) were prepared using heterogeneous reaction between freshly precipitated binuclear cadmium(II) dithiophosphate (Dtph), [Cd2{S2P(O-cyclo-C6H11}4] and H[AuCl4] in 2 M hydrochloric acid. The isolated compounds 1 and 2 (the fixation mode of gold from the solution and the oxidised form of Dtph groups, respectively) have been studied by means of single-crystal X-ray diffraction, 13C and 31P cross-polarisation / magic-angle-spinning (CP/MAS) NMR spectroscopy and simultaneous thermal analysis (STA). Centrosymmetric binuclear molecule of 1, [Au2{S2P(O-cyclo-C6H11)2}2] comprises a pair of -bridging di-cyclo-hexyl Dtph ligands, linking two neighbouring gold atoms, and displays additional intramolecular aurophilic bond Au···Au. At the supramolecular level of structural self-organisation of complex 1, infinite polymeric zigzag chains arise due to pairs of the secondary bonds Au···S between neighbouring binuclear molecules. Centrosymmetric molecule of 2 displays two O,O-di-cyclo-hexythiophosphoryl fragments, which are connected by the chemical bond S(1)–S(1)a, and a planar zigzag array [S=P–S–S–P=S] passing through the central part of the molecule. To characterise additionally the Dtph groups in both compounds 1 and 2, chemical shift anisotropy (CSA) parameters (aniso and) were calculated from spinning sideband manifolds in experimental 31P MAS NMR spectra. The thermal behaviour of complex 1 was studied using simultaneous thermal analysis (a combination of TG and DSC) under an argon atmosphere. The thermal behaviour displays stepwise mass loss, comprising thermal decompositions of the organic and inorganic parts of 1 with gold(I) dithio-meta-phosphate and reduced metallic gold as the intermediate and the final products, respectively.
|
|
| 25. |
|
|
| 26. |
- Paukov, Maksim I., et al.
(author)
-
Optoelectronic properties of nanotubes based on tungsten disulfide
- 2022
-
In: 2022 IEEE Photonics Society Summer Topicals Meeting Series, SUM 2022 - Proceedings.
-
Conference paper (peer-reviewed)abstract
- Inorganic nanotubes (NT), such as WS2NT, have unique properties making them promising candidates for op-toelectronic devices. Herein, we performed optical absorption, Raman, and time-domain terahertz spectroscopy of WS2NT in addition to the microscopy measurements to reveal their optoelectronic properties.
|
|
| 27. |
|
|
| 28. |
- Abercrombie, Daniel, et al.
(author)
-
Dark Matter benchmark models for early LHC Run-2 Searches : Report of the ATLAS/CMS Dark Matter Forum
- 2020
-
In: Physics of the Dark Universe. - : Elsevier BV. - 2212-6864. ; 27
-
Journal article (peer-reviewed)abstract
- This document is the final report of the ATLAS-CMS Dark Matter Forum, a forum organized by the ATLAS and CMS collaborations with the participation of experts on theories of Dark Matter, to select a minimal basis set of dark matter simplified models that should support the design of the early LHC Run-2 searches. A prioritized, compact set of benchmark models is proposed, accompanied by studies of the parameter space of these models and a repository of generator implementations. This report also addresses how to apply the Effective Field Theory formalism for collider searches and present the results of such interpretations.
|
|
| 29. |
|
|
| 30. |
- Bindeman, I. N., et al.
(author)
-
Diverse mantle components with invariant oxygen isotopes in the 2021 Fagradalsfjall eruption, Iceland
- 2022
-
In: Nature Communications. - : Nature. - 2041-1723. ; 13:1
-
Journal article (peer-reviewed)abstract
- The basalts of the 2021 Fagradalsfjall eruption were the first erupted on the Reykjanes Peninsula in 781 years and offer a unique opportunity to determine the composition of the mantle underlying Iceland, in particular its oxygen isotope composition (δ18O values). The basalts show compositional variations in Zr/Y, Nb/Zr and Nb/Y values that span roughly half of the previously described range for Icelandic basaltic magmas and signal involvement of Icelandic plume (OIB) and Enriched Mid-Ocean Ridge Basalt (EMORB) in magma genesis. Here we show that Fagradalsfjall δ18O values are invariable (mean δ18O = 5.4 ± 0.3‰ 2 SD, N = 47) and indistinguishable from “normal” upper mantle, in contrast to significantly lower δ18O values reported for erupted materials elsewhere in Iceland (e.g., the 2014–2015 eruption at Holuhraun, Central Iceland). Thus, despite differing trace element characteristics, the melts that supplied the Fagradalsfjall eruption show no evidence for 18O-depleted mantle or interaction with low-δ18O crust and may therefore represent a useful mantle reference value in this part of the Icelandic plume system.
|
|
| 31. |
- Blythe, Lara, et al.
(author)
-
CO2 bubble generation and migration during magma–carbonate interaction
- 2015
-
In: Contributions to Mineralogy and Petrology. - : Springer Science and Business Media LLC. - 0010-7999 .- 1432-0967. ; 169:4
-
Journal article (peer-reviewed)abstract
- We conducted quantitative textural analysis of vesicles in high temperature and pressure carbonate assimilation experiments (1200 °C, 0.5 GPa) to investigate CO2 generation and subsequent bubble migration from carbonate into magma. We employed Mt. Merapi (Indonesia) and Mt. Vesuvius (Italy) compositions as magmatic starting materials and present three experimental series using (1) a dry basaltic-andesite, (2) a hydrous basaltic-andesite (2 wt% H2O), and (3) a hydrous shoshonite (2 wt% H2O). The duration of the experiments was varied from 0 to 300 s, and carbonate assimilation produced a CO2-rich fluid and CaO-enriched melts in all cases. The rate of carbonate assimilation, however, changed as a function of melt viscosity, which affected the 2D vesicle number, vesicle volume, and vesicle size distribution within each experiment. Relatively low-viscosity melts (i.e. Vesuvius experiments) facilitated efficient removal of bubbles from the reaction site. This allowed carbonate assimilation to continue unhindered and large volumes of CO2 to be liberated, a scenario thought to fuel sustained CO2-driven eruptions at the surface. Conversely, at higher viscosity (i.e. Merapi experiments), bubble migration became progressively inhibited and bubble concentration at the reaction site caused localised volatile over-pressure that can eventually trigger short-lived explosive outbursts. Melt viscosity therefore exerts a fundamental control on carbonate assimilation rates and, by consequence, the style of CO2-fuelled eruptions.
|
|
| 32. |
- Bousquet, J. Jean, et al.
(author)
-
Next-generation ARIA care pathways for rhinitis and asthma : a model for multimorbid chronic diseases
- 2019
-
In: Clinical and Translational Allergy. - : BMC. - 2045-7022. ; 9
-
Research review (peer-reviewed)abstract
- Background: In all societies, the burden and cost of allergic and chronic respiratory diseases are increasing rapidly. Most economies are struggling to deliver modern health care effectively. There is a need to support the transformation of the health care system into integrated care with organizational health literacy.Main body: As an example for chronic disease care, MASK (Mobile Airways Sentinel NetworK), a new project of the ARIA (Allergic Rhinitis and its Impact on Asthma) initiative, and POLLAR (Impact of Air POLLution on Asthma and Rhinitis, EIT Health), in collaboration with professional and patient organizations in the field of allergy and airway diseases, are proposing real-life ICPs centred around the patient with rhinitis, and using mHealth to monitor environmental exposure. Three aspects of care pathways are being developed: (i) Patient participation, health literacy and self-care through technology-assisted "patient activation", (ii) Implementation of care pathways by pharmacists and (iii) Next-generation guidelines assessing the recommendations of GRADE guidelines in rhinitis and asthma using real-world evidence (RWE) obtained through mobile technology. The EU and global political agendas are of great importance in supporting the digital transformation of health and care, and MASK has been recognized by DG Sante as a Good Practice in the field of digitally-enabled, integrated, person-centred care.Conclusion: In 20 years, ARIA has considerably evolved from the first multimorbidity guideline in respiratory diseases to the digital transformation of health and care with a strong political involvement.
|
|
| 33. |
|
|
| 34. |
- Budd, David A., et al.
(author)
-
Magma reservoir dynamics at Toba caldera, Indonesia, recorded by oxygen isotope zoning in quartz
- 2017
-
In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
-
Journal article (peer-reviewed)abstract
- Quartz is a common phase in high-silica igneous rocks and is resistant to post-eruptive alteration, thus offering a reliable record of magmatic processes in silicic magma systems. Here we employ the 75 ka Toba super-eruption as a case study to show that quartz can resolve late-stage temporal changes in magmatic δ18O values. Overall, Toba quartz crystals exhibit comparatively high δ18O values, up to 10.2‰, due to magma residence within, and assimilation of, local granite basement. However, some 40% of the analysed quartz crystals display a decrease in δ18O values in outermost growth zones compared to their cores, with values as low as 6.7‰ (maximum ∆core−rim = 1.8‰). These lower values are consistent with the limited zircon record available for Toba, and the crystallisation history of Toba quartz traces an influx of a low-δ18O component into the magma reservoir just prior to eruption. Here we argue that this late-stage low-δ18O component is derived from hydrothermally-altered roof material. Our study demonstrates that quartz isotope stratigraphy can resolve magmatic events that may remain undetected by whole-rock or zircon isotope studies, and that assimilation of altered roof material may represent a viable eruption trigger in large Toba-style magmatic systems.
|
|
| 35. |
- Budnyak, Tetyana M., et al.
(author)
-
Methylene Blue dye sorption by hybrid materials from technical lignins
- 2018
-
In: Journal of Environmental Chemical Engineering. - : Elsevier. - 2213-3437. ; 6:4, s. 4997-5007
-
Journal article (peer-reviewed)abstract
- New hybrid sorbents were synthesized from technical lignins and silica and were applied for the removal of Methylene Blue dye (MB) from aqueous solution. Kraft softwood lignins from LignoBoost (LBL) and CleanFlowBlack (CFBL) processes were used to understand the influence of molecular weight and functionality of initial lignins on the properties of the final hybrids. The synthesized materials were applied as adsorbents for the removal of MB from aqueous solutions. The effects of parameters such as contact time, initial concentration of dye and initial pH on the adsorption capacity were evaluated. The hybrids exhibited higher adsorption capacity than the initial macromolecules of lignin with respect to MB. The hybrid based on CFBL exhibited an adsorption capacity of 60 mg/g; this value was 30% higher than the capacity of the hybrid based on LBL, which was 41.6 mg/g. Lignin hybrid materials extract 80-99% of the dye in a pH range from 3 to 10. The equilibrium and kinetic characteristics of MB uptake by the hybrids followed the Langmuir isotherm model and pseudosecond-order model, rather than the Freundlich and Temkin models, the pseudo-first-order or the intraparticle diffusion model. The attachment of the dye to the hybrid surface was confirmed via FE-SEM and FTIR spectroscopy. The mechanism for MB adsorption was proposed. Due to the high values of regeneration efficiency of the surface of both lignin-silica hybrid materials in 0.1 M HCl (up to 75%) and ethanol (99%), they could be applied as effective sorbents in industrial wastewater treatment processes.
|
|
| 36. |
- Caretta, Martina Angela, et al.
(author)
-
Water
- 2022
-
In: Climate Change 2022: Impacts, Adaptation and Vulnerability : Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change - Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change.
-
Book chapter (other academic/artistic)
|
|
| 37. |
- Chalupsky, J, et al.
(author)
-
Non-thermal desorption/ablation of molecular solids induced by ultra-short soft x-ray pulses
- 2009
-
In: Optics Express. - 1094-4087. ; 17:1, s. 208-217
-
Journal article (peer-reviewed)abstract
- We report the first observation of single-shot soft x-ray laser induced desorption occurring below the ablation threshold in a thin layer of poly ( methyl methacrylate) - PMMA. Irradiated by the focused beam from the Free-electron LASer in Hamburg ( FLASH) at 21.7nm, the samples have been investigated by atomic-force microscope (AFM) enabling the visualization of mild surface modifications caused by the desorption. A model describing non-thermal desorption and ablation has been developed and used to analyze single-shot imprints in PMMA. An intermediate regime of materials removal has been found, confirming model predictions. We also report below-threshold multiple-shot desorption of PMMA induced by high-order harmonics (HOH) at 32nm. Short-time exposure imprints provide sufficient information about transverse beam profile in HOH's tight focus whereas long-time exposed PMMA exhibits radiation-initiated surface hardening making the beam profile measurement infeasible. (C) 2008 Optical Society of America
|
|
| 38. |
- Chiappa, V., et al.
(author)
-
Agreement of two-dimensional and three-dimensional transvaginal ultrasound with magnetic resonance imaging in assessment of parametrial infiltration in cervical cancer
- 2015
-
In: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 45:4, s. 459-469
-
Journal article (peer-reviewed)abstract
- Objectives To compare two-dimensional (2D) and three-dimensional (3D) transvaginal ultrasound with magnetic resonance imaging (MRI) as the gold standard in assessment of parametrial infiltration of cervical cancer and to determine if all parts of the cervix are equally assessable with ultrasound. Methods Patients with macroscopically evident and histologically confirmed cervical cancer were staged using International Federation of Gynecology and Obstetrics (FIGO) criteria and underwent MRI and 2D and 3D ultrasound examination before treatment. When assessing parametrial infiltration with 3D ultrasound and MRI, the cervix was (virtually) divided into three cylinders (cranial, middle and caudal) of equal size and each cylinder was then divided into six sectors in a clockwise manner following a consensus between radiologists and ultrasound examiners. The presence and the extent of parametrial invasion were recorded for each sector. Results of 2D ultrasound, 3D ultrasound and MRI were compared and reported in terms of percentage agreement and kappa value. Results A total of 29 consecutive patients were included in the study. The percentage agreement between 2D ultrasound and MRI in assessing parametrial infiltration (yes or no) was 76% (kappa, 0.459) and that between 3D ultrasound and MRI was 79% (kappa, 0.508). The results of 2D ultrasound showed the following agreement with those of MRI: 90% for the ventral parametrium (kappa, 0.720), 72% for the right lateral parametrium kappa, 0.494), 69% for the left lateral parametrium (kappa, 0.412) and 58.5% for the dorsal parametrium (kappa, 0.017). The results of 3D ultrasound showed the following agreement with those of MRI: 62.5% for the ventral parametrium (kappa, 0.176), 81% for the right lateral parametrium (kappa, 0.595), 70% for the left lateral parametrium (kappa, 0.326) and 52% for the dorsal parametrium (kappa, 0.132). The best agreement between 3D ultrasound and MRI was for the middle cervical cylinder (76%; kappa, 0.438) and the poorest agreement was for the caudal cylinder (42%; kappa, 0.125). Conclusion The results of 2D and 3D ultrasound showed similar moderate agreement with MRI; 2D and 3D ultrasound examinations are less costly and more readily available than MRI and should be considered in the preoperative work-up for cervical cancer. Copyright (C) 2014 ISUOG. Published by John Wiley & Sons Ltd.
|
|
| 39. |
|
|
| 40. |
- Ciccarone, F., et al.
(author)
-
Imaging in gynecological disease (23) : clinical and ultrasound characteristics of ovarian carcinosarcoma
- 2022
-
In: Ultrasound in Obstetrics and Gynecology. - : Wiley. - 0960-7692 .- 1469-0705. ; 59:2, s. 241-247
-
Journal article (peer-reviewed)abstract
- Objective: To describe the clinical and ultrasound characteristics of ovarian carcinosarcoma. Methods: This was a retrospective multicenter study. Patients with a histological diagnosis of ovarian carcinosarcoma, who had undergone preoperative ultrasound examination between 2010 and 2019, were identified from the International Ovarian Tumor Analysis (IOTA) database. Additional patients who were examined outside of the IOTA study were identified from the databases of the participating centers. The masses were described using the terms and definitions of the IOTA group. Additionally, two experienced ultrasound examiners reviewed all available images to identify typical ultrasound features using pattern recognition. Results: Ninety-one patients with ovarian carcinosarcoma who had undergone ultrasound examination were identified, of whom 24 were examined within the IOTA studies and 67 were examined outside of the IOTA studies. Median age at diagnosis was 66 (range, 33–91) years and 84/91 (92.3%) patients were postmenopausal. Most patients (67/91, 73.6%) were symptomatic, with the most common complaint being pain (51/91, 56.0%). Most tumors (67/91, 73.6%) were International Federation of Gynecology and Obstetrics (FIGO) Stage III or IV. Bilateral lesions were observed on ultrasound in 46/91 (50.5%) patients. Ascites was present in 38/91 (41.8%) patients. The median largest tumor diameter was 100 (range, 18–260) mm. All ovarian carcinosarcomas contained solid components, and most were described as solid (66/91, 72.5%) or multilocular-solid (22/91, 24.2%). The median diameter of the largest solid component was 77.5 (range, 11–238) mm. Moderate or rich vascularization was found in 78/91 (85.7%) cases. Retrospective analysis of ultrasound images and videoclips using pattern recognition in 73 cases revealed that all tumors had irregular margins and inhomogeneous echogenicity of the solid components. Forty-seven of 73 (64.4%) masses appeared as a solid tumor with cystic areas. Cooked appearance of the solid tissue was identified in 28/73 (38.4%) tumors. No pathognomonic ultrasound sign of ovarian carcinosarcoma was found. Conclusions: Ovarian carcinosarcomas are usually diagnosed in postmenopausal women and at an advanced stage. The most common ultrasound appearance is a large solid tumor with irregular margins, inhomogeneous echogenicity of the solid tissue and cystic areas. The second most common pattern is a large multilocular-solid mass with inhomogeneous echogenicity of the solid tissue.
|
|
| 41. |
|
|
| 42. |
- Datta-Chaudhuri, Timir, et al.
(author)
-
The Fourth Bioelectronic Medicine Summit "Technology Targeting Molecular Mechanisms" : current progress, challenges, and charting the future
- 2021
-
In: Bioelectronic medicine. - : BioMed Central. - 2332-8886. ; 7:1
-
Journal article (other academic/artistic)abstract
- There is a broad and growing interest in Bioelectronic Medicine, a dynamic field that continues to generate new approaches in disease treatment. The fourth bioelectronic medicine summit "Technology targeting molecular mechanisms" took place on September 23 and 24, 2020. This virtual meeting was hosted by the Feinstein Institutes for Medical Research, Northwell Health. The summit called international attention to Bioelectronic Medicine as a platform for new developments in science, technology, and healthcare. The meeting was an arena for exchanging new ideas and seeding potential collaborations involving teams in academia and industry. The summit provided a forum for leaders in the field to discuss current progress, challenges, and future developments in Bioelectronic Medicine. The main topics discussed at the summit are outlined here.
|
|
| 43. |
- Deegan, Frances, et al.
(author)
-
Magma-carbonate interaction processes and associated CO2 release at Merapi volcano, Indonesia: insights from experimental petrology
- 2010
-
In: Journal of Petrology. - : Oxford University Press (OUP). - 0022-3530 .- 1460-2415. ; 51:5, s. 1027-1051
-
Journal article (peer-reviewed)abstract
- There is considerable evidence for continuing, late-stage interaction between the magmatic system at Merapi volcano, Indonesia, and local crustal carbonate (limestone). Calc-silicate xenoliths within Merapi basaltic-andesite eruptive rocks display textures indicative of intense interaction between magma and crustal carbonate, and Merapi feldspar phenocrysts frequently contain crustally contaminated cores and zones. To resolve the interaction processes between magma and limestone in detail we have performed a series of time-variable decarbonation experiments in silicate melt, at magmatic pressure and temperature, using a Merapi basaltic-andesite and local Javanese limestone as starting materials. We have used in situ analytical methods to determine the elemental and strontium isotope composition of the experimental products and to trace the textural, chemical, and isotopic evolution of carbonate assimilation. The major processes of magma-carbonate interaction identified are: (1) rapid decomposition and degassing of carbonate; (2) generation of a Ca-enriched, highly radiogenic strontium contaminant melt, distinct from the starting material composition; (3) intense CO2 vesiculation, particularly within the contaminated zones; (4) physical mingling between the contaminated and unaffected melt domains; (5) chemical mixing between melts. The experiments reproduce many of the features of magma-carbonate interaction observed in the natural Merapi xenoliths and feldspar phenocrysts. The Ca-rich, high 87Sr/86Sr contaminant melt produced in the experiments is considered as a precursor to the Ca-rich (often 'hyper-calcic') phases found in the xenoliths and the contaminated zones in Merapi feldspars.The xenoliths also exhibit micro-vesicular textures that can be linked to the CO2 liberation process seen in the experiments.This study, therefore, provides well-constrained petrological insights into the problem of crustal interaction at Merapi and points toward the substantial impact of such interaction on the volatile budget of the volcano.
|
|
| 44. |
- Demidow, V N, et al.
(author)
-
Imaging of gynecological disease (2): clinical and ultrasound characteristics of Sertoli cell tumors, Sertoli-Leydig cell tumors and Leydig cell tumors
- 2008
-
In: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 31:1, s. 85-91
-
Journal article (peer-reviewed)abstract
- Objective To describe the clinical history and ultrasound findings in women with ovarian Sertoli cell, Sertoli-Leydig cell and Leydig cell tumors. Methods Women with a histological diagnosis of Sertoli cell tumor, Sertoli-Leydig cell tumor or Leydig cell tumor who bad undergone preoperative ultrasound examination were identified from the databases of each of three participating ultrasound centers. The tumors were characterized on the basis of ultrasound images, ultrasound reports and research protocols (when applicable) using the terms and definitions published by the International Ovarian Tumor Analysis (IOTA) group. In addition, all images were reviewed and described using pattern recognition. Results Of 22 patients identified, 15 bad Sertoli-Leydig cell tumors, two bad Sertoli cell tumors and five bad Leydig cell tumors. Four patients were postmenopausal, one 48-year-old woman bad undergone hysterectomy, 16 were of fertile age and one was a 4-year-old girl. Most patients (82%, 18122) bad endocrine symptoms, the most common being bleeding disturbance (64%, 14122) and hirsutism (32%, 7/22). Twenty-two (96%) of 23 tumors (one woman bad bilateral tumors) contained a solid component; 16 (70%) were purely solid. Pattern recognition showed that the Leydig cell tumors were small solid tumors (four of five had a largest diameter of 1-3 cm) and the two Sertoli cell tumors were somewhat larger solid tumors (4 cm and 7 cm); the Sertoli-Leydig cell tumors were either small (3-4 cm) or medium-sized (6- 7 cm) solid tumors, or multilocular solid tumors of any size (3-18 cm) with purely solid areas mixed with areas of innumerable closely packed small cyst locules. Conclusions On the basis of endocrine symptoms, the woman's age and ultrasound findings, it should be possible to suggest a correct preoperative diagnosis of Sertoli cell, Sertoli-Leydig cell or Leydig cell tumors in many cases.
|
|
| 45. |
- Doimo, Mara, et al.
(author)
-
Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.
- 2023
-
In: Nucleic acids research. - : Oxford University Press. - 1362-4962 .- 0305-1048. ; 51:14, s. 7392-7408
-
Journal article (peer-reviewed)abstract
- Mitochondrial DNA (mtDNA) replication stalling is considered an initial step in the formation of mtDNA deletions that associate with genetic inherited disorders and aging. However, the molecular details of how stalled replication forks lead to mtDNA deletions accumulation are still unclear. Mitochondrial DNA deletion breakpoints preferentially occur at sequence motifs predicted to form G-quadruplexes (G4s), four-stranded nucleic acid structures that can fold in guanine-rich regions. Whether mtDNA G4s form in vivo and their potential implication for mtDNA instability is still under debate. In here, we developed new tools to map G4s in the mtDNA of living cells. We engineered a G4-binding protein targeted to the mitochondrial matrix of a human cell line and established the mtG4-ChIP method, enabling the determination of mtDNA G4s under different cellular conditions. Our results are indicative of transient mtDNA G4 formation in human cells. We demonstrate that mtDNA-specific replication stalling increases formation of G4s, particularly in the major arc. Moreover, elevated levels of G4 block the progression of the mtDNA replication fork and cause mtDNA loss. We conclude that stalling of the mtDNA replisome enhances mtDNA G4 occurrence, and that G4s not resolved in a timely manner can have a negative impact on mtDNA integrity.
|
|
| 46. |
|
|
| 47. |
|
|
| 48. |
- Dominguez-Valentin, M, et al.
(author)
-
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
- 2021
-
In: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 10:13
-
Journal article (peer-reviewed)abstract
- Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
|
|
| 49. |
- Dominguez-Valentin, M, et al.
(author)
-
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
- 2020
-
In: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 9:7
-
Journal article (peer-reviewed)abstract
- Purpose: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone replacement therapy (HRT) in women with Lynch syndrome. Methods: We conducted a survey in 31 contributing centers from the Prospective Lynch Syndrome Database (PLSD), which incorporates 18 countries worldwide. The survey covered local policies for risk-reducing hysterectomy and BSO in Lynch syndrome, the timing when these measures are offered, the involvement of stakeholders and advice regarding HRT. Results: Risk-reducing hysterectomy and BSO are offered to path_MLH1 and path_MSH2 carriers in 20/21 (95%) contributing centers, to path_MSH6 carriers in 19/21 (91%) and to path_PMS2 carriers in 14/21 (67%). Regarding the involvement of stakeholders, there is global agreement (~90%) that risk-reducing surgery should be offered to women, and that this discussion may involve gynecologists, genetic counselors and/or medical geneticists. Prescription of estrogen-only HRT is offered by 15/21 (71%) centers to women of variable age range (35–55 years). Conclusions: Most centers offer risk-reducing gynecological surgery to carriers of path_MLH1, path_MSH2 and path_MSH6 variants but less so for path_PMS2 carriers. There is wide variation in how, when and to whom this is offered. The Manchester International Consensus Group developed recommendations to harmonize clinical practice across centers, but there is a clear need for more research.
|
|
| 50. |
|
|
