High-accuracy determination of the neutron flux in the new experimental area n_TOF-EAR2 at CERN

A new high flux experimental area has recently become operational at the n_TOF facility at CERN. This new measuring station, n_TOF-EAR2, is placed at the end of a vertical beam line at a distance of approximately 20m from the spallation target. The characterization of the neutron beam, in terms of flux, spatial profile and resolution function, is of crucial importance for the feasibility study and data analysis of all measurements to be performed in the new area. In this paper, the measurement of the neutron flux, performed with different solid-state and gaseous detection systems, and using three neutron-converting reactions considered standard in different energy regions is reported. The results of the various measurements have been combined, yielding an evaluated neutron energy distribution in a wide energy range, from 2meV to 100MeV, with an accuracy ranging from 2%, at low energy, to 6% in the high-energy region. In addition, an absolute normalization of the n_TOF-EAR2 neutron flux has been obtained by means of an activation measurement performed with 197Au foils in the beam.Peer reviewe

The European Solar Telescope

The European Solar Telescope (EST) is a project aimed at studying the magnetic connectivity of the solar atmosphere, from the deep photosphere to the upper chromosphere. Its design combines the knowledge and expertise gathered by the European solar physics community during the construction and operation of state-of-the-art solar telescopes operating in visible and near-infrared wavelengths: the Swedish 1m Solar Telescope, the German Vacuum Tower Telescope and GREGOR, the French Télescope Héliographique pour l'Étude du Magnétisme et des Instabilités Solaires, and the Dutch Open Telescope. With its 4.2 m primary mirror and an open configuration, EST will become the most powerful European ground-based facility to study the Sun in the coming decades in the visible and near-infrared bands. EST uses the most innovative technological advances: the first adaptive secondary mirror ever used in a solar telescope, a complex multi-conjugate adaptive optics with deformable mirrors that form part of the optical design in a natural way, a polarimetrically compensated telescope design that eliminates the complex temporal variation and wavelength dependence of the telescope Mueller matrix, and an instrument suite containing several (etalon-based) tunable imaging spectropolarimeters and several integral field unit spectropolarimeters. This publication summarises some fundamental science questions that can be addressed with the telescope, together with a complete description of its major subsystems

Limits on the production of scalar leptoquarks from Z (0) decays at LEP

A search has been made for pairs and for single production of scalar leptoquarks of the first and second generations using a data sample of 392000 Z0 decays from the DELPHI detector at LEP 1. No signal was found and limits on the leptoquark mass, production cross section and branching ratio were set. A mass limit at 95% confidence level of 45.5 GeV/c2 was obtained for leptoquark pair production. The search for the production of a single leptoquark probed the mass region above this limit and its results exclude first and second generation leptoquarks D0 with masses below 65 GeV/c2 and 73 GeV/c2 respectively, at 95% confidence level, assuming that the D0lq Yukawa coupling alpha(lambda) is equal to the electromagnetic one. An upper limit is also given on the coupling alpha(lambda) as a function of the leptoquark mass m(D0)

Preparation and characterization of ³³S samples for ³³S(n,α)³⁰Si cross-section measurements at the n_TOF facility at CERN

Thin 33S samples for the study of the 33S(n,α)30Si cross-section at the n_TOF facility at CERN were made by thermal evaporation of 33S powder onto a dedicated substrate made of kapton covered with thin layers of copper, chromium and titanium. This method has provided for the first time bare sulfur samples a few centimeters in diameter. The samples have shown an excellent adherence with no mass loss after few years and no sublimation in vacuum at room temperature. The determination of the mass thickness of 33S has been performed by means of Rutherford backscattering spectrometry. The samples have been successfully tested under neutron irradiation

Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future

Purpose Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. Design Meta-analysis of prevalence data. Participants A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohorts from 10 countries in Europe. Methods AMD was diagnosed based on fundus photographs using the Rotterdam Classification. Prevalence of early and late AMD was calculated using random-effects meta-analysis stratified for age, birth cohort, gender, geographic region, and time period of the study. Best-corrected visual acuity (BCVA) was compared between late AMD subtypes; geographic atrophy (GA) and choroidal neovascularization (CNV). Main Outcome Measures Prevalence of early and late AMD, BCVA, and number of AMD cases. Results Prevalence of early AMD increased from 3.5% (95% confidence interval [CI] 2.1%–5.0%) in those aged 55–59 years to 17.6% (95%

Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins

[EN] Up until now, no study has looked specifically at epigenomic landscapes throughout twin samples, discordant for Anorexia nervosa (AN). Our goal was to find evidence to confirm the hypothesis that epigenetic variations play a key role in the aetiology of AN. In this study, we quantified genome-wide patterns of DNA methylation using the Infinium Human DNA Methylation EPIC BeadChip array ("850 K") in DNA samples isolated from whole blood collected from a group of 7 monozygotic twin pairs discordant for AN. Results were then validated performing a genome-wide DNA methylation profiling using DNA extracted from whole blood of a group of non-family-related AN patients and a group of healthy controls. Our first analysis using the twin sample revealed 9 CpGs associated to a gene. The validation analysis showed two statistically significant CpGs with the rank regression method related to two genes associated to metabolic traits, PPP2R2C and CHST1. When doing beta regression, 6 of them showed statistically significant differences, including 3 CpGs associated to genes JAM3, UBAP2L and SYNJ2. Finally, the overall pattern of results shows genetic links to phenotypes which the literature has constantly related to AN, including metabolic and psychological traits. The genes PPP2R2C and CHST1 have both been linked to the metabolic traits type 2 diabetes through GWAS studies. The genes UBAP2L and SYNJ2 have been related to other psychiatric comorbidity.This work was supported by a FIS grant (PI16/01279) from the FEDER, FSE and Carlos III Health Institute (ISCIII).Iranzo-Tatay, C.; Hervás-Marín, D.; Rojo-Bofill, L.; Garcia, D.; Vaz-Leal, F.; Calabria, I.; Beato-Fernandez, L.... (2022). Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins. Translational Psychiatry. 12(1):1-8. https://doi.org/10.1038/s41398-021-01776-y18121Chesney E, Goodwin GM, Fazel S. Risks of all-cause and suicide mortality in mental disorders: A meta-review. World Psychiatry. 2014;13:153–69.Hoehe MR, Morris-Rosendahl DJ. The role of genetics and genomics in clinical psychiatry. Dialogues Clin Neurosci. 2018;20:169–77.Uher R. Gene-environment interactions in severe mental illness. Front Psychiatry. 2014;15:48. 5Edvardsen J, Torgersen S, Røysamb E, Lygren S, Skre I, Onstad S, et al. Heritability of bipolar spectrum disorders. Unity or heterogeneity? J Affect Disord 2008;106:229–40.Rojo-Moreno L, Iranzo-Tatay C, Gimeno-Clemente N, Barberá-Fons MA, Rojo-Bofill LM, Livianos-Aldana L, et al. Genetic and environmental influences on psychological traits and eating attitudes in a sample of Spanish schoolchildren. Rev Psiquiatr Salud Ment. 2017;10:134–42.Geschwind DH, Flint J. Genetics and genomics of psychiatric disease. Science 2015;25:1489–94. 349Millan MJ, Ricca V, Oliver D, Kingdon J, Valmaggia L, McGuire P, et al. Deconstructing vulnerability for psychosis: Meta-analysis of environmental risk factors for psychosis in subjects at ultra high-risk. Eur Psychiatry. 2017;40:65–75.Steiger H, Booij L. Eating disorders, heredity and environmental activation: getting epigenetic concepts into practice. J Clin Med. 2020;9:1332.Föcking M, Doyle B, Munawar N, Dillon ET, Cotter D, Cagney G, et al. Epigenetic factors in schizophrenia: mechanisms and experimental approaches. Mol Neuropsychiatry. 2019;5:6–12.Campbell IC, Mill J, Uher R, Schmidt U. Eating disorders, gene-environment interactions and epigenetics. Neurosci Biobehav Rev. 2011;35:784–93.Castillo-Fernandez JE, Spector TD, Bell JT. Epigenetics of discordant monozygotic twins: Implications for disease. Genome Med. 2014;31:60. 6Lorente-Pozo S, Parra-Llorca A, Núñez-Ramiro A, Cernada M, Hervás D, Boronat N, et al. The oxygen load supplied during delivery room stabilization of preterm infants modifies the DNA methylation profile. J Pediatr. 2018;202:70–76.Hannon E, Knox O, Sugden K, Burrage J, Wong CCY, Belsky DW, et al. Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins. PLoS Genet. 2018;9:14.Kesselmeier M, Pütter C, Volckmar AL, Baurecht H, Grallert H, Illig T, et al. High-throughput DNA methylation analysis in anorexia nervosa confirms TNXB hypermethylation. World J Biol Psychiatry. 2018;19:187–99.Dempster EL, Pidsley R, Schalkwyk LC, Owens S, Georgiades A, Kane F, et al. Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder. Hum Mol Genet. 2011;20:4786–96.Heyn H, Carmona Javier F, Gomez A, Ferreira HJ, Bell JT, Sayols S, et al. DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker. Carcinogenesis 2013;34:102–8.Zhou W, Laird PW, Shen H. Comprehensive characterization, annotation and innovative use of Infinium DNA methylation BeadChip probes. Nucleic Acids Res. 2017;45:e22.Frieling H, Bleich S, Otten J, Römer KD, Kornhuber J, De Zwaan M, et al. Epigenetic downregulation of atrial natriuretic peptide but not vasopressin mRNA expression in females with eating disorders is related to impulsivity. Neuropsychopharmacology 2008;33:2605–9.Frieling H, Rómer KD, Scholz S, Mittelbach F, Wilhelm J, De Zwaan M, et al. Epigenetic dysregulation of dopaminergic genes in eating disorders. Int J Eat Disord. 2010;43:577–83.Groleau P, Joober R, Israel M, Zeramdini N, DeGuzman R, Steiger H, et al. Methylation of the dopamine D2 receptor (DRD2) gene promoter in women with a bulimia-spectrum disorder: Associations with borderline personality disorder and exposure to childhood abuse. J Psychiatr Res. 2014;48:121–7.Steiger H, Labonté B, Groleau P, Turecki G, Israel M. Methylation of the glucocorticoid receptor gene promoter in bulimic women: associations with borderline personality disorder, suicidality, and exposure to childhood abuse. Int J Eat Disord. 2013;46:246–55.Kim YR, Kim JH, Kim MJ, Treasure J. Differential methylation of the oxytocin receptor gene in patients with anorexia nervosa: a pilot study. PLoS ONE. 2014;11:9.Tremolizzo L, Conti E, Bomba M, Uccellini O, Rossi MS, Marfone M, et al. Decreased whole-blood global DNA methylation is related to serum hormones in anorexia nervosa adolescents. World J Biol Psychiatry. 2014;15:327–33.Saffrey R, Novakovic B, Wade TD. Assessing global and gene specific DNA methylation in anorexia nervosa: a pilot study. Int J Eat Disord. 2014;47:206–10.Pjetri E, Dempster E, Collier DA, Treasure J, Kas MJ, Mill J, et al. Quantitative promoter DNA methylation analysis of four candidate genes in anorexia nervosa: a pilot study. J Psychiatr Res. 2013;47:280–2.Hübel C, Marzi SJ, Breen G, Bulik CM. Epigenetics in eating disorders: a systematic review. Mol Psychiatry. 2019;24:901–15.Himmerich H, Bentley J, Kan C, Treasure J. Genetic risk factors for eating disorders: an update and insights into pathophysiology. Ther Adv Psychopharmacol. 2019;12:9.Steiger H, Booij L, Kahan E, McGregor K, Thaler L, Fletcher E, et al. Longitudinal, epigenome-wide study of DNA methylation in anorexia nervosa: Results in actively ill, partially weight-restored, long-term remitted and non-eating-disordered women. J Psychiatry Neurosci. 2019;44:205–13.Schorr M, Miller KK. The endocrine manifestations of anorexia nervosa: mechanisms and management. Nat Rev Endocrinol 2017;13:147–86.Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, et al. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nat Genet. 2019;51:1207–14.Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti-Proença C, et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet. 2009;41:1110–5.Fox CS, Heard-Costa N, Cupples LA, Dupuis J, Vasan RS, Atwood LD. Genome-wide association to body mass index and waist circumference: The Framingham Heart Study 100K project. BMC Med Genet. 2007;8:1–7.Wood AR, Jonsson A, Jackson AU, Wang N, Van Leewen N, Palmer ND, et al. A genome-wide association study of IVGTT-based measures of first-phase insulin secretion refines the underlying physiology of type 2 diabetes variants. Diabetes 2017;66:2296–309.Wang RN, Green J, Wang Z, Deng Y, Qiao M, Peabody M, et al. Bone Morphogenetic Protein (BMP) signaling in development and human diseases. Genes Dis. 2014;1:87–105.Böttcher Y, Unbehauen H, Klöting N, Ruschke K, Körner A, Schleinitz D, et al. Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity. Diabetes 2009;58:2119–28.Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, et al. The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study. PLoS Genet. 2015;12:e1006166.Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, et al. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nat Genet. 2019;51:804–14.Duncan L, Yilmaz Z, Gaspar H, Walters R, Goldstein J, Anttila V, et al. Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa. Am J Psychiatry. 2017;174:850–8.Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. 2009;41:35–46.Li J, Lange LA, Sabourin J, Duan Q, Valdar W, Willis MS, et al. Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. J Hum Genet. 2015;60:755–61.Yan C, Wang P, Demayo J, Demayo FJ, Elvin JA, Carino C, et al. Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function. Mol Endocrinol. 2001;15:854–66.Sugiura K, Su Y-Q, Eppig JJ. Does bone morphogenetic protein 6 (BMP6) affect female fertility in the mouse?. Biol Reprod. 2010;83:997–1004.Nagashima T, Li Q, Clementi C, Lydon JP, DeMayo FJ, Matzuk MM. BMPR2 is required for postimplantation uterine function and pregnancy maintenance. J Clin Invest. 2013;123:2539–50.Wade TD, Gordon S, Medland S, Bulik CM, Heath AC, Montgomery GW, et al. Genetic variants associated with disordered eating. Int J Eat Disord. 2013;46:594–608.Marucci S, Ragione LD, De Iaco G, Mococci T, Vicini M, Guastamacchia E, et al. Anorexia nervosa and comorbid psychopathology. Endocr Metab Immune Disord Drug Targets. 2018;18:316–24.Bordeleau ME, Aucagne R, Chagraoui J, Girard S, Mayotte N, Bonneil É, et al. UBAP2L is a novel BMI1-interacting protein essential for hematopoietic stem cell activity. Blood 2014;124:2362–9.Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019;51:793–803.Verweij KJH, Vinkhuyzen AAE, Benyamin B, Lynskey MT, Quaye L, Agrawal A, et al. The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation. Addict Biol. 2013;18:846–50.Viveros MP, Bermúdez-Silva FJ, Lopez-Rodriguez AB, Wagner EJ. The endocannabinoid system as pharmacological target derived from its CNS role in energy homeostasis and reward. Applications in eating disorders and addiction. Pharmaceuticals 2011;4:1101–36