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Full list of authors: Abareshi, B.; Aguilar, J.; Ahlen, S.; Alam, Shadab; Alexander, David M.; Alfarsy, R.; Allen, L.; Allende Prieto, C.; Alves, O.; Ameel, J.; Armengaud, E.; Asorey, J.; Aviles, Alejandro; Bailey, S.; Balaguera-Antolinez, A.; Ballester, O.; Baltay, C.; Bault, A.; Beltran, S. F.; Benavides, B.; BenZvi, S.; Berti, A.; Besuner, R.; Beutler, Florian; Bianchi, D.; Blake, C.; Blanc, P.; Blum, R.; Bolton, A.; Bose, S.; Bramall, D.; Brieden, S.; Brodzeller, A.; Brooks, D.; Brownewell, C.; Buckley-Geer, E.; Cahn, R. N.; Cai, Z.; Canning, R.; Capasso, R.; Carnero Rosell, A.; Carton, P.; Casas, R.; Castander, F. J.; Cervantes-Cota, J. L.; Chabanier, S.; Chaussidon, E.; Chuang, C.; Circosta, C.; Cole, S.; Cooper, A. P.; da Costa, L.; Cousinou, M-C; Cuceu, A.; Davis, T. M.; Dawson, K.; De la Cruz-Noriega, R.; de la Macorra, A.; de Mattia, A.; Della Costa, J.; Demmer, P.; Derwent, M.; Dey, A.; Dey, B.; Dhungana, G.; Ding, Z.; Dobson, C.; Doel, P.; Donald-McCann, J.; Donaldson, J.; Douglass, K.; Duan, Y.; Dunlop, P.; Edelstein, J.; Eftekharzadeh, S.; Eisenstein, D. J.; Enriquez-Vargas, M.; Escoffier, S.; Evatt, M.; Fagrelius, P.; Fan, X.; Fanning, K.; Fawcett, V. A.; Ferraro, S.; Ereza, J.; Flaugher, B.; Font-Ribera, A.; Forero-Romero, J. E.; Frenk, C. S.; Fromenteau, S.; Gansicke, B. T.; Garcia-Quintero, C.; Garrison, L.; Gaztanaga, E.; Gerardi, F.; Gil-Marin, H.; Gontcho, S. Gontcho A.; Gonzalez-Morales, Alma X.; Gonzalez-de-Rivera, G.; Gonzalez-Perez, V; Gordon, C.; Graur, O.; Green, D.; Grove, C.; Gruen, D.; Gutierrez, G.; Guy, J.; Hahn, C.; Harris, S.; Herrera, D.; Herrera-Alcantar, Hiram K.; Honscheid, K.; Howlett, C.; Huterer, D.; Irsic, V; Ishak, M.; Jelinsky, P.; Jiang, L.; Jimenez, J.; Jing, Y. P.; Joyce, R.; Jullo, E.; Juneau, S.; Karacayli, N. G.; Karamanis, M.; Karcher, A.; Karim, T.; Kehoe, R.; Kent, S.; Kirkby, D.; Kisner, T.; Kitaura, F.; Koposov, S. E.; Kovacs, A.; Kremin, A.; Krolewski, Alex; L'Huillier, B.; Lahav, O.; Lambert, A.; Lamman, C.; Lan, Ting-Wen; Landriau, M.; Lane, S.; Lang, D.; Lange, J. U.; Lasker, J.; Le Guillou, L.; Leauthaud, A.; Suu, A. Le Van; Levi, Michael E.; Li, T. S.; Magneville, C.; Manera, M.; Manser, Christopher J.; Marshall, B.; Martini, Paul; McCollam, W.; McDonald, P.; Meisner, Aaron M.; Mena-Fernandez, J.; Meneses-Rizo, J.; Mezcua, M.; Miller, T.; Miquel, R.; Montero-Camacho, P.; Moon, J.; Moustakas, J.; Mueller, E.; Munoz-Gutierrez, Andrea; Myers, Adam D.; Nadathur, S.; Najita, J.; Napolitano, L.; Neilsen, E.; Newman, Jeffrey A.; Nie, J. D.; Ning, Y.; Niz, G.; Norberg, P.; Noriega, Hernan E.; O'Brien, T.; Obuljen, A.; Palanque-Delabrouille, N.; Palmese, A.; Zhiwei, P.; Pappalardo, D.; Peng, X.; Percival, W. J.; Perruchot, S.; Pogge, R.; Poppett, C.; Porredon, A.; Prada, F.; Prochaska, J.; Pucha, R.; Perez-Fernandez, A.; Perez-Rafols, I; Rabinowitz, D.; Raichoor, A.; Ramirez-Solano, S.; Ramirez-Perez, Cesar; Ravoux, C.; Reil, K.; Rezaie, M.; Rocher, A.; Rockosi, C.; Roe, N. A.; Roodman, A.; Ross, A. J.; Rossi, G.; Ruggeri, R.; Ruhlmann-Kleider, V; Sabiu, C. G.; Safonova, S.; Said, K.; Saintonge, A.; Catonga, Javier Salas; Samushia, L.; Sanchez, E.; Saulder, C.; Schaan, E.; Schlafly, E.; Schlegel, D.; Schmoll, J.; Scholte, D.; Schubnell, M.; Secroun, A.; Seo, H.; Serrano, S.; Sharples, Ray M.; Sholl, Michael J.; Silber, Joseph Harry; Silva, D. R.; Sirk, M.; Siudek, M.; Smith, A.; Sprayberry, D.; Staten, R.; Stupak, B.; Tan, T.; Tarle, Gregory; Tie, Suk Sien; Tojeiro, R.; Urena-Lopez, L. A.; Valdes, F.; Valenzuela, O.; Valluri, M.; Vargas-Magana, M.; Verde, L.; Walther, M.; Wang, B.; Wang, M. S.; Weaver, B. A.; Weaverdyck, C.; Wechsler, R.; Wilson, Michael J.; Yang, J.; Yu, Y.; Yuan, S.; Yeche, Christophe; Zhang, H.; Zhang, K.; Zhao, Cheng; Zhou, Rongpu; Zhou, Zhimin; Zou, H.; Zou, J.; Zou, S.; Zu, Y.; DESI Collaboration.--This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., The Dark Energy Spectroscopic Instrument (DESI) embarked on an ambitious 5 yr survey in 2021 May to explore the nature of dark energy with spectroscopic measurements of 40 million galaxies and quasars. DESI will determine precise redshifts and employ the baryon acoustic oscillation method to measure distances from the nearby universe to beyond redshift z > 3.5, and employ redshift space distortions to measure the growth of structure and probe potential modifications to general relativity. We describe the significant instrumentation we developed to conduct the DESI survey. This includes: a wide-field, 3fdg2 diameter prime-focus corrector; a focal plane system with 5020 fiber positioners on the 0.812 m diameter, aspheric focal surface; 10 continuous, high-efficiency fiber cable bundles that connect the focal plane to the spectrographs; and 10 identical spectrographs. Each spectrograph employs a pair of dichroics to split the light into three channels that together record the light from 360–980 nm with a spectral resolution that ranges from 2000–5000. We describe the science requirements, their connection to the technical requirements, the management of the project, and interfaces between subsystems. DESI was installed at the 4 m Mayall Telescope at Kitt Peak National Observatory and has achieved all of its performance goals. Some performance highlights include an rms positioner accuracy of better than 0farcs1 and a median signal-to-noise ratio of 7 of the [O ii] doublet at 8 × 10−17 erg s−1 cm−2 in 1000 s for galaxies at z = 1.4–1.6. We conclude with additional highlights from the on-sky validation and commissioning, key successes, and lessons learned. © 2022. The Author(s). Published by the American Astronomical Society., This research is supported by the Director, Office of Science, Office of High Energy Physics of the U.S. Department of Energy under contract No. DE-AC02-05CH11231, and by the National Energy Research Scientific Computing Center, a DOE Office of Science User Facility under the same contract. Additional support for DESI is provided by the U.S. National Science Foundation, Division of Astronomical Sciences under contract No. AST-0950945 to the NSF's National Optical-Infrared Astronomy Research Laboratory; the Science and Technologies Facilities Council of the United Kingdom; the Gordon and Betty Moore Foundation; the Heising–Simons Foundation; the French Alternative Energies and Atomic Energy Commission (CEA); the National Council of Science and Technology of Mexico (CONACYT); the Ministry of Science and Innovation of Spain, and by the DESI Member Institutions: Aix-Marseille University; Argonne National Laboratory; Barcelona-Madrid Regional Participation Group; Brookhaven National Laboratory; Boston University; Brazil Regional Participation Group; Carnegie Mellon University; CEA-IRFU, Saclay; China Participation Group; Cornell University; Durham University; École Polytechnique Fédérale de Lausanne; Eidgenössische Technische Hochschule, Zürich; Fermi National Accelerator Laboratory; Granada-Madrid-Tenerife Regional Participation Group; Harvard University; Kansas State University; Korea Astronomy and Space Science Institute; Korea Institute for Advanced Study; Lawrence Berkeley National Laboratory; Laboratoire de Physique Nucléaire et de Hautes Energies; Ludwig Maximilians University; Max Planck Institute; Mexico Regional Participation Group; New York University; NSF's National Optical-Infrared Astronomy Research Laboratory; Ohio University; Perimeter Institute; Shanghai Jiao Tong University; Siena College; SLAC National Accelerator Laboratory; Southern Methodist University; Swinburne University; The Ohio State University; Universidad de los Andes; University of Arizona; University of Barcelona; University of California, Berkeley; University of California, Irvine; University of California, Santa Cruz; University College London; University of Florida; University of Michigan at Ann Arbor; University of Pennsylvania; University of Pittsburgh; University of Portsmouth; University of Queensland; University of Rochester; University of Toronto; University of Utah; University of Waterloo; University of Wyoming; University of Zurich; UK Regional Participation Group; and Yale University. This work has made use of data from the European Space Agency (ESA) mission Gaia (https://www.cosmos.esa.int/gaia), processed by the Gaia Data Processing and Analysis Consortium (DPAC; https://www.cosmos.esa.int/web/gaia/dpac/consortium). Funding for the DPAC has been provided by national institutions, in particular the institutions participating in the Gaia Multilateral Agreement., With funding from the Spanish government through the Severo Ochoa Centre of Excellence accreditation SEV-2017-0709.

The effects of sea-level changes and anoxia on Devonian trilobites have been studied for a long time, but the importance of palaeogeographic and tectonic events in this key-period is still not well understood. In the Devonian Period, trilobites invaded many different marine environments and areas in North Africa where important palaeogeographic changes occurred. Distribution patterns of trilobites through time and space have been analysed using a hierarchical cluster analysis and diversity indices. Our examination of the literature suggests that trilobites were scarce during Lochkovian time before an important diversification in Pragian time. Trilobites flourished in many North African regions without there being important taxonomic differences between basins, because of free migration in relatively flat palaeo-topography and homogeneous environments. During Middle Devonian time, early Variscan tectonic movements transformed the eastern Anti-Atlas area into a basin with a platform topography. Geographical barriers such as deep basins prevented trilobite migrations. At the beginning of Eifelian time, the reduction in migration between the different regions of this area coincided with a decrease in diversity. Consequently, tectonic events played an important role in the decline of trilobites during Middle Devonian time, especially when these were combined with sea-level changes and anoxic/hypoxic events. A recovery occurred in Famennian time involving only new genera. As at the global scale, cyrtosymbolines developed in shallow seas, whereas phacopids evolved in deeper environments. The basin and platform system still hampered migrations, although sea-level variations led to episodic exchanges. The late Famennian regression reduced trilobite diversity dramatically in the study area.

The Dark Energy Spectroscopic Instrument (DESI) was designed to conduct a survey covering 14,000 deg$^2$ over five years to constrain the cosmic expansion history through precise measurements of Baryon Acoustic Oscillations (BAO). The scientific program for DESI was evaluated during a five month Survey Validation (SV) campaign before beginning full operations. This program produced deep spectra of tens of thousands of objects from each of the stellar (MWS), bright galaxy (BGS), luminous red galaxy (LRG), emission line galaxy (ELG), and quasar target classes. These SV spectra were used to optimize redshift distributions, characterize exposure times, determine calibration procedures, and assess observational overheads for the five-year program. In this paper, we present the final target selection algorithms, redshift distributions, and projected cosmology constraints resulting from those studies. We also present a `One-Percent survey' conducted at the conclusion of Survey Validation covering 140 deg$^2$ using the final target selection algorithms with exposures of a depth typical of the main survey. The Survey Validation indicates that DESI will be able to complete the full 14,000 deg$^2$ program with spectroscopically-confirmed targets from the MWS, BGS, LRG, ELG, and quasar programs with total sample sizes of 7.2, 13.8, 7.46, 15.7, and 2.87 million, respectively. These samples will allow exploration of the Milky Way halo, clustering on all scales, and BAO measurements with a statistical precision of 0.28% over the redshift interval $z, Comment: 42 pages, 16 figures, submitted to AJ

The Dark Energy Spectroscopic Instrument (DESI) has embarked on an ambitious five-year survey to explore the nature of dark energy with spectroscopy of 40 million galaxies and quasars. DESI will determine precise redshifts and employ the Baryon Acoustic Oscillation method to measure distances from the nearby universe to z > 3.5, as well as measure the growth of structure and probe potential modifications to general relativity. In this paper we describe the significant instrumentation we developed for the DESI survey. The new instrumentation includes a wide-field, 3.2-deg diameter prime-focus corrector that focuses the light onto 5020 robotic fiber positioners on the 0.812 m diameter, aspheric focal surface. The positioners and their fibers are divided among ten wedge-shaped petals. Each petal is connected to one of ten spectrographs via a contiguous, high-efficiency, nearly 50 m fiber cable bundle. The ten spectrographs each use a pair of dichroics to split the light into three channels that together record the light from 360 - 980 nm with a resolution of 2000 to 5000. We describe the science requirements, technical requirements on the instrumentation, and management of the project. DESI was installed at the 4-m Mayall telescope at Kitt Peak, and we also describe the facility upgrades to prepare for DESI and the installation and functional verification process. DESI has achieved all of its performance goals, and the DESI survey began in May 2021. Some performance highlights include RMS positioner accuracy better than 0.1", SNR per \sqrt{\AA} > 0.5 for a z > 2 quasar with flux 0.28e-17 erg/s/cm^2/A at 380 nm in 4000s, and median SNR = 7 of the [OII] doublet at 8e-17 erg/s/cm^2 in a 1000s exposure for emission line galaxies at z = 1.4 - 1.6. We conclude with highlights from the on-sky validation and commissioning of the instrument, key successes, and lessons learned. (abridged)

what drives mis-remembering in social decisions?

Pyruvate is an essential metabolite produced by the glycolytic pathway in the cytosol and must be transported across the inner mitochondrial membrane (IMM) into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvate import is performed by Mitochondrial Pyruvate Carrier (MPC), which is a hetero-oligomeric complex composed by interdependent subunits MPC1 and MPC2. Pathogenic variants in MPC1 gene disrupt mitochondrial pyruvate uptake and oxidation and it was associated to autosomal-recessive early-onset neurological dysfunction in humans. However, no pathogenic variants have been related to the MPC2 gene. The present work describes the first pathogenic variants in MPC2 associated with human disease in four patients from two unrelated families. In the first family, patients presented with antenatal developmental abnormalities, harbored a homozygous c.148T>C (p.Trp50Arg) variant. In the second family, patients presented with infantile encephalopathy carried missense c.2T>G (p.Met1?) variant disrupting the initiation codon. Patient-derived skin fibroblasts exhibit decreased pyruvate-driven oxygen consumption rates with normal activities of the pyruvate dehydrogenase complex and mitochondrial respiratory chain and no defects in mitochondrial content nor morphology. Re-expression of wild type MPC2 restored pyruvate-dependent respiration rates in patient-derived fibroblasts. The discovery of pathogenic variants in MPC2 therefore broadens the clinical and genetic landscape associated with inborn errors in pyruvate metabolism.

Large imaging surveys, such as the Legacy Survey of Space and Time, rely on photometric redshifts and tomographic binning for 3x2pt analyses that combine galaxy clustering and weak lensing. In this paper, we propose a method for optimizing the tomographic binning choice for the lens sample of galaxies. We divide the CosmoDC2 and Buzzard simulated galaxy catalogs into a training set and an application set, where the training set is nonrepresentative in a realistic way, and then estimate photometric redshifts for the application sets. The galaxies are sorted into redshift bins covering equal intervals of redshift or comoving distance, or with an equal number of galaxies in each bin, and we consider a generalized extension of these approaches. We find that bins of equal comoving distance produce the highest dark energy figure of merit of the initial binning choices, but that the choice of bin edges can be further optimized. We then train a neural network classifier to identify galaxies that are either highly likely to have accurate photometric redshift estimates or highly likely to be sorted into the correct redshift bin. The neural network classifier is used to remove poor redshift estimates from the sample, and the results are compared to the case when none of the sample is removed. We find that the neural network classifiers are able to improve the figure of merit by ~13% and are able to recover ~25% of the loss in the figure of merit that occurs when a nonrepresentative training sample is used., Comment: 18 pages, 14 figures

This paper presents the results of the Rubin Observatory Dark Energy Science Collaboration (DESC) 3x2pt tomography challenge, which served as a first step toward optimizing the tomographic binning strategy for the main DESC analysis. The task of choosing an optimal tomographic binning scheme for a photometric survey is made particularly delicate in the context of a metacalibrated lensing catalogue, as only the photometry from the bands included in the metacalibration process (usually riz and potentially g) can be used in sample definition. The goal of the challenge was to collect and compare bin assignment strategies under various metrics of a standard 3x2pt cosmology analysis in a highly idealized setting to establish a baseline for realistically complex follow-up studies; in this preliminary study, we used two sets of cosmological simulations of galaxy redshifts and photometry under a simple noise model neglecting photometric outliers and variation in observing conditions, and contributed algorithms were provided with a representative and complete training set. We review and evaluate the entries to the challenge, finding that even from this limited photometry information, multiple algorithms can separate tomographic bins reasonably well, reaching figures-of-merit scores close to the attainable maximum. We further find that adding the g band to riz photometry improves metric performance by ~15% and that the optimal bin assignment strategy depends strongly on the science case: which figure-of-merit is to be optimized, and which observables (clustering, lensing, or both) are included., Comment: 30 pages (incl. 12 in appendix), 12 figures. Version accepted for publication in the Open Journal of Astrophysics

Resume Les anomalies de la circulation ombilico-portale sont des pathologies dont les points d’appel en echographie de depistage sont peu enseignes. Il peut s’agir d’un sinus porte d’aspect inhabituel, d’un trajet anormal de la veine ombilicale, d’une image intra-hepatique anechogene, d’une cardiomegalie. Elles peuvent aussi etre decouvertes lors d’un bilan de retard de croissance intra-uterin. Par la suite, le point de depart de la demarche diagnostique repose sur la dichotomie suivante : la veine ombilicale penetre-t-elle ou non dans le foie, suivi de l’analyse systematique du trajet et du calibre des vaisseaux ombilico-porto-systemiques avec etude en Doppler couleur. Le pronostic, variable selon le type de fistule implique, represente le principal enjeu de cette demarche et definira le rythme de surveillance et le lieu d’accouchement.

Water resource management is a major concern in Marquenterre, a maritime plain located in the western part of the Somme department. Water management is particularly indispensable for protecting wetlands in Marquenterre, regulating water usage and avoiding saline intrusion into aquifers. Various approaches including geological modelling and hydrogeological and hydrogeochemical studies were used to prepare a conceptual model of the Marquenterre hydrosystem and to provide better water management in this sector. The conceptual model shows that the chalk aquifer and the various Quaternary deposit aquifers are in hydrogeological continuity. No seawater intrusion has been discovered in groundwater. Salinization discovered at depth is a result of the most recent marine transgressions. Finally, wetlands are primarily supplied by the chalk groundwater or by rainfall. The study results are used to direct policies for surface and subsurface water resource management. The proposed conceptual model may be useful for other coastal aquifers along the English Channel in order to address challenges of managing the chalk groundwater and backshore swamps.

Since the 1980s, nitrate has been shown to be present in soils and the vadose zone of various types of geological materials years after fertilizer application. In chalk, where the vadose zone is thick, nitrate storage can be considerable and its transport time towards groundwater can be lengthy. In this context, evaluation of the impact of changes in agricultural practices on groundwater quality remains a major question. Improvement of groundwater quality can in certain cases be greatly delayed after the implementation of environmental agricultural practices. The principal objective of this study is to improve our knowledge of when changes in agricultural practices will have a noticeable effect on groundwater quality. To meet this objective, nitrate concentration profiles were performed in agricultural plots in Picardy (France). A crop marker event was used to calculate the transport velocity of water and associated solutes. This method is useful when other tracers (such as tritium or chloride) cannot be used. Estimated velocities range from 0.51 to 0.54 m a −1 ; these values are similar to those described in similar chalk aquifers.

Data analysis workflows in many scientific domains have become increasingly complex and flexible. Here we assess the effect of this flexibility on the results of functional magnetic resonance imagingby asking 70 independent teams to analyse the same dataset, testing the same 9 ex-ante hypotheses1. The flexibility of analytical approaches is exemplified by the fact that no two teams chose identical workflows to analyse the data. This flexibility resulted in sizeable variation in the results of hypothesis tests, even for teams whose statistical maps were highly correlated at intermediate stages of the analysis pipeline. Variation in reported results was related to several aspects of analysis methodology. Notably, a meta-analytical approach that aggregated information across teams yielded a significant consensus in activated regions. Furthermore, prediction markets of researchers in the field revealed an overestimation of the likelihood of significant findings, even by researchers with direct knowledge of the dataset2-5. Our findings show that analytical flexibility can have substantial effects on scientific conclusions, and identify factors that may be related to variability in the analysis of functional magnetic resonance imaging. The results emphasize the importance of validating and sharing complex analysis workflows, and demonstrate the need for performing and reporting multiple analyses of the same data. Potential approaches that could be used to mitigate issues related to analytical variability are discussed.

Individuals learn by comparing the outcome of chosen and unchosen actions. A negative counterfactual value signal is generated when this comparison is unfavorable. This can happen in private as well as in social settings—where the foregone outcome results from the choice of another person. We hypothesized that, despite sharing similar features such as supporting learning, these two counterfactual signals might implicate distinct brain networks. We conducted a neuropsychological study on the role of private and social counterfactual value signals in risky decision-making. Patients with lesions in the ventromedial prefrontal cortex (vmPFC), lesion controls, and healthy controls repeatedly chose between lotteries. In private trials, participants could observe the outcomes of their choices and the outcomes of the unselected lotteries. In social trials, participants could also see the other player's choices and outcome. At the time of outcome, vmPFC patients were insensitive to private counterfactual value signals, whereas their responses to social comparison were similar to those of control participants. At the time of choice, intact vmPFC was necessary to integrate counterfactual signals in decisions, although amelioration was observed during the course of the task, possibly driven by social trials. We conclude that if the vmPFC is critical in processing private counterfactual signals and in integrating those signals in decision-making, then distinct brain areas might support the processing of social counterfactual signals.

In recent years, our knowledge concerning the neurobiology of choice has increased tremendously. Research in the field of decision-making has identified important brain mechanisms by which a representation of the subjective value of an option is built based on previous experience, retrieved and compared to that of other available options in order to make a choice. One body of research, in particular, has focused on simple value-based choices (e.g., choices between two types of fruits) to study situations very similar to our daily life decisions as consumers. The use of neuroimaging techniques has deepened and refined our knowledge of decision processes. Additionally, computational approaches have helped identifying and describing the mechanisms underlying newly found components of the decisional process. They provide mechanistic explanations for diverse biases that can drive decision makers away from their own preferences or from rational choices. It is now clear that both attentional and affective factors can exert robust effects on an individual's decisions. Because these factors can be manipulated externally, academic research and theories are of great interest to the marketing industry. This approach is becoming increasingly effective in manipulating consumer behavior and has the potential to become even more effective in the future. Another line of research has revealed differences in the decision-making neural circuitry that underlie sub-optimal choice behavior, rendering some individuals particularly vulnerable to marketing strategies. As neuroscientists, we wonder whether relevant institutions should direct their efforts toward raising citizens' awareness, demanding more transparency on marketing applications and regulate the most pervasive communication techniques in marketing, in view of their current use and of recent research progress.

RING Finger Protein 113 A (RNF113A, MIM 300951) is a highly conserved gene located on chromosome Xq24-q25, encoding a protein containing two conserved zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009. Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. This variant was then shown to alter DNA alkylation repair, providing an additional argument supporting its pathogenicity and important clues about the underlying pathophysiology of nonphotosensitive trichothiodystrophy. Using exome sequencing, we identified exactly the same RNF113A variant in two fetuses affected with abnormalities similar to those previously reported by Corbett et al. To our knowledge, this is the second report of a RNF113A pathogenic variant in humans.

Taking advantage of the exceptional record of Devonian trilobites in North Africa, a new dataset was compiled in order to reveal their long-term evolutionary history leading to their extinction. This dataset comprises 1171 trilobite occurrences from 168 different localities, within 22 consecutive and discrete chronostratigraphic intervals (substage temporal scale), representing 556 species, 179 genera, and 15 families scattered among nine North African basins. The reconstructed palaeobiodiversity trajectories by means of various biodiversity estimators of taxonomic richness are consistent and highlight a progressive and continuous diversification throughout the Early Devonian to reach a maximum of diversity at the end of the Emsian. Most families encountered in North Africa contribute to this increase of diversity. This regional diversification shows the same trends as the global one. Thereafter, the trilobite diversity began to decline due to extinction rates higher than origination rates during the Eifelian (Middle Devonian). From the middle Givetian to the late Frasnian, the trilobite diversity remained low. After this major decline, and the Frasnian events, a faunal change occurred, especially in phacopid and proetid trilobites, which were the only two families crossing the Frasnian/Famennian boundary. Indeed, the Kellwasser Event impacted an already impoverished diversity leading to a major faunal renewal associated with quick taxonomic changes at the genus level. A larger proportion of deeper water and reduced-eye/blind trilobites who acted as opportunists characterized the Famennian recovery. Finally, these palaeobiodiversity trends are compared to those of ammonoids from the same area.

The unfavorable comparison between the obtained and expected outcomes of our choices may elicit disappointment. When the comparison is made with the outcome of alternative actions, emotions like regret can serve as a learning signal. Previous work showed that both anticipated disappointment and regret influence decisions. In addition, experienced regret is associated with higher emotional responses than disappointment. Yet it is not clear whether this amplification is due to additive effects of disappointment and regret when the outcomes of alternative actions are available, or whether it reflects the learning feature of regret signals. In this perspective, we used eye-tracking to measure the visual pattern of information acquisition in a probabilistic lottery task. In the partial feedback condition, only the outcome of the chosen lottery was revealed, while in the complete feedback condition, participants could compare their outcome with that of the non-chosen lottery, giving them the opportunity to experience regret. During the decision phase, visual patterns of information acquisition were consistent with the assessment of anticipated regret, in addition to a clear assessment of lotteries' expected values. During the feedback phase, subjective ratings and eye-tracking results confirmed that participants compared their outcome with the outcome of the non-chosen lottery in the complete feedback condition, particularly after a loss, and ignored the non-realized outcome of the chosen option. Moreover, participants who made more visual saccades consistent with counterfactual comparisons during the feedback period anticipated regret more in their decisions. These results are consistent with the proposed adaptive function of regret.

The zebrafish (Danio rerio) is a useful vertebrate model organism for neurological studies. While a number of behavior and learning assays are recently reported in the literature for zebrafish, many of these assays are still being refined. The initial purpose of this study was to apply a published T-maze assay for adult zebrafish that measures how quickly an organism can discriminate between different color stimuli after receiving reinforcement to measure learning in a study investigating the later life impacts of developmental Pb exposure. The original results were inconclusive as the control group showed a directional and color preference. To assess directional preference further, a three-chambered testing apparatus was constructed and rotated in several directions. The directional preference observed in males was alleviated by rotating the arms pointing west and east. In addition, color preference was investigated using all combinations of five different colors (orange, yellow, green, blue and purple). With directional preference alleviated results showed that both male and female zebrafish preferred colors of shorter wavelengths. An additional experiment tested changes in color preference due to developmental exposure to Pb in adult male zebrafish. Results revealed that Pb-exposed males gained and lost certain color preferences compared to control males and the preference for short wavelengths was decreased. Overall, these results show that consideration and pretesting should be completed before applying behavioral and learning assays involving adult zebrafish to avoid innate preferences and confounding changes in neurotoxicology studies and that developmental Pb exposure alters color preferences in adult male zebrafish.

Congenital ventricular aneurysms and diverticula are rare congenital heart diseases, currently accessible to prenatal diagnosis. Information on the natural course of ventricular aneurysm or diverticulum detected during fetal life is limited as there are only few case reports and case series enumerating the defect. We aimed to describe through three cases, the prenatal features and clinical outcomes of fetal cardiac aneurysms. The first one was diagnosed during the second trimester and spontaneous evolution was favorable. The two others were diagnosed in the first trimester with a large and early pericardial effusion. For one, the parents opted for termination of pregnancy at 15 weeks of gestation and the other showed a spontaneous regression of the effusion and no hemodynamic compromise.

Good knowledge of normal characteristics of prenatal three vessels and trachea view allows not only to detect, but also to identify abnormalities such as normal variants and malformations of interest to main vessels (trunk of the pulmonary artery and its branches, the aorta and the superior vena cava) and various vascular structures in the anterior-superior mediastinum. These abnormalities may be isolated or associated with other anomalies of cardiac architecture.

Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.

The facial bones, as they appear in a fetal ultrasound image, result from a continuous process of development, regulated and sequenced by genetic and molecular embryology, which progressively constructs the face like epigenesis.

Facial clefts are found in 272 different syndromes, the frequency of cleft lips and palate is 0.5/1000, or 1/500, 41 % of which are associate with other organ anomalies, and only 6/10 being isolated.

Background: There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities. Methods: Ten cases of prenatally diagnosed sacral agenesis were included between 1995 and 2014 after collating ultrasound findings and prenatal computed tomography data. Results: Two cases of total sacral agenesis and 8 of partial agenesis were included. There were 1 or more spinal abnormalities in 8/10 cases: 6 lipomas, 4 low-lying tethered cords, 2 diastematomyelias, and 1 syringomyelia. Three situations were distinguished: sacral agenesis with low-lying tethered cord, sacral agenesis with a truncated CM, and sacral agenesis with CM in place. If the sacral agenesis is isolated, a lipoma should be sought. Lipomas of the filum have a good prognosis, whereas lipomas of the CM cause neurological deficits in 1/3 of cases. When there is a low-lying tethered cord, a diastematomyelia or a syringomyelia may be associated. In truncated CM, there may be a severe form suggestive of caudal regression syndrome. Serious ultrasound signs are immobility of the lower limbs, talipes equinovarus, impaired bladder emptying, and dilatation of the upper urinary tract. Conclusion: A precise description of the morphology of the CM, its position, and associated spinal malformations are important in defining the neurological, urinary, gastrointestinal, and motor functions prognosis in cases of fetal sacral agenesis.

EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5-related phenotypic spectrum. Our report supports the idea that EPG5-related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. © 2017 Wiley Periodicals, Inc.

Resume Introduction La decouverte d’une malformation pulmonaire en antenatal reste un evenement rare, survenant dans moins d’une grossesse sur 1000. On peut distinguer les lesions hyperechogenes des lesions kystiques. Etat des connaissances Le diagnostic precis repose sur l’echographie et parfois l’IRM. Les lesions les plus frequemment rencontrees sont la malformation adenomatoide kystique du poumon, la sequestration pulmonaire, l’emphyseme lobaire et les kystes bronchogeniques. L’evolution spontanee et le pronostic sont le plus souvent favorables mais l’apparition de complication, en particulier d’une anasarque, est possible. L’atresie laryngee est exceptionnelle mais d’une particuliere gravite. Perspectives La decouverte d’une malformation pulmonaire fœtale necessite un avis en centre specialise et les parents doivent rencontrer en antenatal les medecins qui seront amenes a traiter l’enfant apres sa naissance. La surveillance doit rechercher l’apparition de complications meme si les lesions regressent le plus souvent. L’apparition d’une anasarque fœtale signe une compression des organes voisins grave et constitue une urgence therapeutique. Conclusions Les malformations pulmonaires fœtales sont rares et le plus souvent de bon pronostic. Leur prise en charge necessite un suivi regulier, une naissance dans une maternite adaptee et un suivi postnatal clinique et radiologique.

Objectives To construct reference ranges for fetal optic tract mean diameter and to report measurements in fetuses with agenesis of the septum pellucidum (SP). Methods Three-dimensional volumes of the optic chiasm were acquired in 98 normal fetuses during routine sonographic examination at 21–36 weeks' gestation and the diameters of the posterior left and right optic tracts were measured offline. A polynomial regression approach (mean and SD model) was used to compute reference charts for the mean fetal optic tract diameter measurements. In addition, 23 volumes were acquired in fetuses with SP agenesis for offline measurement of optic tract diameter. Complete follow-up was obtained in 13 of these 23 cases. Results In normal fetuses, the optic tract diameter increased linearly throughout gestation. There was no evidence of increased variability with gestational age (constant SD). Normal charts and equations for Z-score calculation were constructed. Among the 13 fetuses with SP agenesis and complete follow-up, nine had normal measurements, of which eight had normal vision postnatally. Four had hypoplastic optic tract, defined as mean optic tract diameter Z-score below − 3. Of these, two underwent termination of pregnancy and pathological examination confirmed hypoplasia of the tract, one showed signs of hypoplasia at magnetic resonance imaging and postnatal examination confirmed blindness, and one had a hypoplastic measurement for only one tract and was born with poor vision and abnormal bilateral eye movements. Conclusion We present new reference charts for mean fetal optic tract diameter. In fetuses with agenesis of the SP, sonography of the optic tract might be a useful tool to assess its development and may help in prenatal counseling. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

Chez l’Homme, les decisions ne sont pas seulement determinees par la rationalite, mais se trouvent egalement fortement influencees par les emotions. Les recherches en neurosciences ont montre que le cerveau attribue une valeur affective a chacune des alternatives d’un choix. Cette valeur affective est basee sur une experience emotionnelle actuelle ou anticipee. Les circuits neuronaux lies aux reponses emotionnelles sont reactives lors d’un choix, au moment ou le cerveau anticipe les futures consequences de ce choix. Ces patterns d’activations resultent de mecanismes d’apprentissage lies a l’accumulation d’experiences emotionnelles. Nous decrivons ici les bases theoriques de ces processus adaptatifs lies au regret ainsi que les mecanismes neuronaux associes.