The Athena X-ray Integral Field Unit: a consolidated design for the system requirement review of the preliminary definition phase

The Athena X-ray Integral Unit (X-IFU) is the high resolution X-ray spectrometer, studied since 2015 for flying in the mid-30s on the Athena space X-ray Observatory, a versatile observatory designed to address the Hot and Energetic Universe science theme, selected in November 2013 by the Survey Science Committee. Based on a large format array of Transition Edge Sensors (TES), it aims to provide spatially resolved X-ray spectroscopy, with a spectral resolution of 2.5 eV (up to 7 keV) over an hexagonal field of view of 5 arc minutes (equivalent diameter). The X-IFU entered its System Requirement Review (SRR) in June 2022, at about the same time when ESA called for an overall X-IFU redesign (including the X-IFU cryostat and the cooling chain), due to an unanticipated cost overrun of Athena. In this paper, after illustrating the breakthrough capabilities of the X-IFU, we describe the instrument as presented at its SRR, browsing through all the subsystems and associated requirements. We then show the instrument budgets, with a particular emphasis on the anticipated budgets of some of its key performance parameters. Finally we briefly discuss on the ongoing key technology demonstration activities, the calibration and the activities foreseen in the X-IFU Instrument Science Center, and touch on communication and outreach activities, the consortium organisation, and finally on the life cycle assessment of X-IFU aiming at minimising the environmental footprint, associated with the development of the instrument. Thanks to the studies conducted so far on X-IFU, it is expected that along the design-to-cost exercise requested by ESA, the X-IFU will maintain flagship capabilities in spatially resolved high resolution X-ray spectroscopy, enabling most of the original X-IFU related scientific objectives of the Athena mission to be retained. (abridged).Comment: 48 pages, 29 figures, Accepted for publication in Experimental Astronomy with minor editin

The Athena X-ray Integral Field Unit: a consolidated design for the system requirement review of the preliminary definition phase

The Athena X-ray Integral Unit (X-IFU) is the high resolution X-ray spectrometer studied since 2015 for flying in the mid-30s on the Athena space X-ray Observatory. Athena is a versatile observatory designed to address the Hot and Energetic Universe science theme, as selected in November 2013 by the Survey Science Committee. Based on a large format array of Transition Edge Sensors (TES), X-IFU aims to provide spatially resolved X-ray spectroscopy, with a spectral resolution of 2.5 eV (up to 7 keV) over a hexagonal field of view of 5 arc minutes (equivalent diameter). The X-IFU entered its System Requirement Review (SRR) in June 2022, at about the same time when ESA called for an overall X-IFU redesign (including the X-IFU cryostat and the cooling chain), due to an unanticipated cost overrun of Athena. In this paper, after illustrating the breakthrough capabilities of the X-IFU, we describe the instrument as presented at its SRR (i.e. in the course of its preliminary definition phase, so-called B1), browsing through all the subsystems and associated requirements. We then show the instrument budgets, with a particular emphasis on the anticipated budgets of some of its key performance parameters, such as the instrument efficiency, spectral resolution, energy scale knowledge, count rate capability, non X-ray background and target of opportunity efficiency. Finally, we briefly discuss the ongoing key technology demonstration activities, the calibration and the activities foreseen in the X-IFU Instrument Science Center, touch on communication and outreach activities, the consortium organisation and the life cycle assessment of X-IFU aiming at minimising the environmental footprint, associated with the development of the instrument. Thanks to the studies conducted so far on X-IFU, it is expected that along the design-to-cost exercise requested by ESA, the X-IFU will maintain flagship capabilities in spatially resolved high resolution X-ray spectroscopy, enabling most of the original X-IFU related scientific objectives of the Athena mission to be retained. The X-IFU will be provided by an international consortium led by France, The Netherlands and Italy, with ESA member state contributions from Belgium, Czech Republic, Finland, Germany, Poland, Spain, Switzerland, with additional contributions from the United States and Japan.The French contribution to X-IFU is funded by CNES, CNRS and CEA. This work has been also supported by ASI (Italian Space Agency) through the Contract 2019-27-HH.0, and by the ESA (European Space Agency) Core Technology Program (CTP) Contract No. 4000114932/15/NL/BW and the AREMBES - ESA CTP No.4000116655/16/NL/BW. This publication is part of grant RTI2018-096686-B-C21 funded by MCIN/AEI/10.13039/501100011033 and by “ERDF A way of making Europe”. This publication is part of grant RTI2018-096686-B-C21 and PID2020-115325GB-C31 funded by MCIN/AEI/10.13039/501100011033

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

Las razas en una lista de encabezamientos de materia en español Races in a subject heading list in Spanish

Se analizaron en la Lista de encabezamientos de materia para biblioteca (LEMB) los epígrafes referidos a raza, según criterios de otredad, confinamiento, omisión, estructura inadecuada y terminología tendenciosa. Se identificaron 3 epígrafes para caucásicos, 135 para indígenas y 21 para negros. El 75% de los epígrafes para amerindios y el 100% de epígrafes para la raza negra se concentran en las palabras indígena/s, negro/s y negra/s. La omisión de epígrafes y subdivisiones, la incoherencia en las relaciones equivalentes y los términos tendenciosos pueden resultar discriminatorios u ofensivos para aquellos distintos a la raza blanca, por lo que se sugiere revisar esta conocida lista de epígrafes, incluyendo el concepto mismo de raza, con el fin de mejorarla.The subject headings, referring to human races, were identified in the subject heading list Lista de encabezamientos de materia para bibliotecas (LEMB), following criteria of otherness, confinement, omission, inadequate structure, and biased terminology. A total of 3 subject headings were identified for white people, 135 for American Indians, and 21 for blacks. 75% of the subject headings for American Indians and 100% for blacks are concentrated in the words indígena(s), negro(s) or negra(s). Omission of subject headings and subdivisions, inconsistencies in the equivalence relations, and scope notes, as well as some biased terminological forms may be discriminatory or offensive for some people, and thus the revision of this very well known subject heading list (including the very concept of race), is suggested in order to improve it

Woman in the subject heading list in Spanish

Se identificaron 71 epígrafes referidos a la mujer en la Lista de encabezamientos de materia para biblioteca (LEMB) y se analizaron según criterios de otredad, confinamiento, omisión, estructura inadecuada y terminología sesgada. El 73 de los epígrafes no tenían correspondencia exacta entre la mujer y el varón, mientras que el número de epígrafes femeninos con indicación de sexo era mayor que en los epígrafes masculinos (52 vs. 9). El 83 de los epígrafes femeninos se concentra en tres sustantivos: mujeres, muchachas y esposas. La omisión de epígrafes y subdivisiones, la incoherencia en las relaciones equivalentes y las notas de alcance, así como ciertas formas terminológicas pueden resultar discriminatorias u ofensivas para la mujer, por lo que se sugiere revisar esta conocida lista de epígrafes, con el fin de mejorarlaA total of 71 subject headings referring to women in the subject heading list Lista de encabezamientos de materia para bibliotecas (LEMB) were analyzed according to the following criteria: otherness, confinement, omission, inadequate structure, and biased terminology. Seventy three percent of the subject headings have no exact equivalent in men and women, and the number of heading indicating gender was higher in the male (52 vs. 9) Eighty three percent of headings referring to the female were concentrated in three nouns: women, girls, and wives. Omission of subject headings and subdivisions, inconsistencies in the equivalence relations, and scope notes, as well as some terminological forms may be discriminatory or offensive for women. Consequently, revision and improvement of this well-known subject heading list is suggestedFil: Martínez Tamayo, Ana María. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina

Races in a Subject Heading List in Spanish

Se analizaron en la Lista de encabezamientos de materia para biblioteca (LEMB) los epígrafes referidos a raza, según criterios de otredad, confinamiento, omisión, estructura inadecuada y terminología tendenciosa. Se identificaron 3 epígrafes para caucásicos, 135 para indígenas y 21 para negros. El 75 porciento de los epígrafes para amerindios y el 100 porciento de epígrafes para la raza negra se concentran en las palabras indígena/s, negro/s y negra/s. La omisión de epígrafes y subdivisiones, la incoherencia en las relaciones equivalentes y los términos tendenciosos pueden resultar discriminatorios u ofensivos para aquellos distintos a la raza blanca, por lo que se sugiere revisar esta conocida lista de epígrafes, incluyendo el concepto mismo de raza, con el fin de mejorarla.The subject headings, referring to human races, were identified in the subject heading list Lista de encabezamientos de materia para bibliotecas (LEMB), following criteria of otherness, confinement, omission, inadequate structure, and biased terminology. A total of 3 subject headings were identified for white people, 135 for American Indians, and 21 for blacks. 75 percent of the subject headings for American Indians and 100 percent for blacks are concentrated in the words indígena(s), negro(s) or negra(s). Omission of subject headings and subdivisions, inconsistencies in the equivalence relations, and scope notes, as well as some biased terminological forms may be discriminatory or offensive for some people, and thus the revision of this very well known subject heading list (including the very concept of race), is suggested in order to improve it.Fil: Todaro, Alicia J.. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina.Fil: Martínez Tamayo, Ana María. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina

Woman in the subject heading list in Spanish

Se identificaron 71 epígrafes referidos a la mujer en la Lista de encabezamientos de materia para biblioteca (LEMB) y se analizaron según criterios de otredad, confinamiento, omisión, estructura inadecuada y terminología sesgada. El 73de los epígrafes no tenían correspondencia exacta entre la mujer y el varón, mientras que el número de epígrafes femeninos con indicación de sexo era mayor que en los epígrafes masculinos (52 vs. 9). El 83de los epígrafes femeninos se concentra en tres sustantivos: mujeres, muchachas y esposas. La omisión de epígrafes y subdivisiones, la incoherencia en las relaciones equivalentes y las notas de alcance, así como ciertas formas terminológicas pueden resultar discriminatorias u ofensivas para la mujer, por lo que se sugiere revisar esta conocida lista de epígrafes, con el fin de mejorarlaA total of 71 subject headings referring to women in the subject heading list Lista de encabezamientos de materia para bibliotecas (LEMB) were analyzed according to the following criteria: otherness, confinement, omission, inadequate structure, and biased terminology. Seventy three percent of the subject headings have no exact equivalent in men and women, and the number of heading indicating gender was higher in the male (52 vs. 9) Eighty three percent of headings referring to the female were concentrated in three nouns: women, girls, and wives. Omission of subject headings and subdivisions, inconsistencies in the equivalence relations, and scope notes, as well as some terminological forms may be discriminatory or offensive for women. Consequently, revision and improvement of this well-known subject heading list is suggestedFil: Martínez Tamayo, Ana María. Universidad Nacional de La Plata. Facultad de Humanidades y Ciencias de la Educación; Argentina