BAYESIAN ESTIMATION UNDER INFORMATIVE SAMPLING: INVESTIGATING THE ASSOCIATION BETWEEN DEPRESSION AND INFLAMMATION

Survey data is often collected using complex sampling designs so that the probability of being included in the study is related to the outcome of interest (i.e. informative sample). Recently, a novel fully-Bayesian method has been developed for modeling data under informative sampling. Initial results indicate that this novel construction reduces bias in variance estimates compared to other pseudo-Bayesian techniques. The performance of this method has yet to be compared to traditional Frequentist approaches, which typically rely on Taylor series linearization (TSL) or resampling techniques for standard error (SE) estimation. Here, we modeled the relationship between depression and inflammation using data from the National Health and Nutrition Examination Survey using both a the fully-Bayesian method and a Frequentist method, specifically weighted least squares regression with TSL variance estimation. Although fully-Bayesian and the standard Frequentist approach generated similar parameter estimates, the fully-Bayesian model tended to produce smaller SEs than the Frequentist method. These findings suggest that the fully-Bayesian method performs equivalently to traditional Frequentist methods and may even provide better variance estimates than those computed by TSL. The current findings also replicate previous findings that the relationship between inflammation and depression is likely influenced by alcohol use, smoking, and Body Mass Index (BMI), but must be interpreted cautiously due to the high level of missing data

Integrated Geochemistry and Sedimentology of the Wolfcamp B3 and B2 Intervals, Midland Basin, TX

The Permian-aged, hydrocarbon-rich, mixed carbonate-siliciclastic mudrocks of Midland Basin Wolfcamp B2 and B3 are highly heterogeneous, making paleoenvironmental reconstruction difficult. The high-frequency lithologic and geochemical variations in the examined core often fall below a 2-inch (~ 5 cm.) vertical resolution, warranting a novel inorganic geochemical interval averaging approach for geochemical comparisons. Conventional sedimentological techniques such as core description, petrography, and ichnology allowed for a localized application of a regionally accepted 2nd order sequence-stratigraphic framework. Inorganic and organic geochemical techniques were then applied to further corroborate the paleoredox and paleoproductivity interpretation established by more sedimentologically based techniques. The influence of 2nd order eustatic sea-level fluctuations and sediment gravity flow events on paleoredox conditions was confirmed. Combined geochemical and ichnological evidence suggest that the Wolfcamp B3 and B2 mudrocks were deposited under suboxic conditions, with relatively more anoxic conditions during lowstand and progressively more oxic conditions during transgression and highstand, respectively

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

The Sediment Budget of Great Bahama Bank – Insights From Simulations, Satellites, and Seismic

Sediment production, transport, and accumulation atop and around Great Bahama Bank are rigorously investigating using simulation, satellite, and seismic techniques. Hydrodynamic modeling and sediment transport simulations suggest that fair-weather conditions are primarily responsible for redistributing sediments from their sources and creating the sedimentary facies seen today. Conversely, a single catastrophic storm, such as Category 4 Hurricane Matthew (2016), only winnows mud. This work casts doubt on paleo-storm interpretations based on coarse-grained tempesites and emphasizes the role of fair-weather condition in sculpting the shallow-water carbonate rock record.The relative sway of fair-weather winds, waves, and tides on total suspended sediment was further investigated using satellite observation in a machine learning framework. Elevated winter winds, particularly during El Ni&ntilde;o and in the platform interior, are found to increase suspended sediment on interannual time scales. Too, oscillations in the Lunar Nodal Cycle and the Atlantic Meridional Overturning Circulation are found to modulate suspended sediment on semi-decadal time scales. Notably, wind is the dominate driver of suspended sediment on the leeward margin, while tides, often focused between aeolian islands, are found to be the dominant driver of suspended sediment on the windward margin.Using these previous methods combined with seismic and literature data, a Late Holocene sediment budget for Great Bahama Bank (GBB) is created. In doing so, cumulative production, export, and accumulation are assessed over a range of cases (low, medium, and high). The budget suggests only medium to high production rates coupled with low to medium accumulation rates yield the surplus or balance, respectively, necessary to account for the observable growth of GBB over the last 6.7 kyr, or since it last flooded. As such, this work intimates that the ability of a carbonate platform to keep up with sea level rise and provide sediment to its adjacent flanks is more tenuous than previously believed.</p

The Permian Tunas Formation (Claromecó Basin, Argentina): potential naturally fractured reservoir and/or coal bed methane (CBM) play?

The analysis of structural discontinuities in the Tunas Formation helps characterize this unit as a potential naturally fractured reservoir. The principal discontinuities are 1) fractures parallel to the bedding planes, 2) fractures coplanar to the axial planar cleavage, 3) dilatant fractures filled by quartz, and 4) subvertical shear fractures. Over a thousand measurements on microtectonic structures help infer a stress field whose maximum principal stress (σ1) has a SW-NE orientation. Based on this structural analysis, optimal orientations for exploration and/or production wells in the Claromecó Basin should be a 130° azimuth. Fracture spacing range between 30 and 100 cm in outcrops of the Tunas sandstones along the Ventana foldbelt (VFB). A similar fractured network is postulated for the subsurface of the basin. Organic-rich levels, ranging from coals to carbonaceous shales, occur in the Tunas Formation in the subsurface of the Claromecó Basin and are a potential shale gas resource play. These beds tend to cap successions of interbedded shales and sandstones. The coals range from semi anthracitic to low volatile bituminous. Vitrinite and fusinite prevail as organic matter types, ranging between 1.3 and 2.4 vitrinite reflectance (Ro). The occurrence within condensate-wet gas to dry gas windows reflect subsurface processes such as strong diagenesis and anchimetamorphism. The coal-rich levels in the Tunas Formation can be correlated with other Lower Permian organic-rich units in the Paraná Basin in Uruguay (Tres Islas Formation) and Brazil (Rio Bonito Formation). All are analogous to the lower Upper Permian Vryheid coals of the eastern Karoo Basin in South Africa with shale gas and coal bed methane (CBM) prospectivity.Fil: Lopez Gamundi, Oscar R.. No especifíca;Fil: Rossello, Eduardo Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Geociencias Básicas, Aplicadas y Ambientales de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Geociencias Básicas, Aplicadas y Ambientales de Buenos Aires; Argentin

Disentangling Effort from Probability of Success: Theta Oscillatory Dynamics Reveal the Role of Medial Prefrontal Cortex in Effort-Based Reward

The ability to weigh a reward against the cost of acquiring it is critical for decision-making. While the medial prefrontal cortex (mPFC) has been implicated in tracking both mental effort demands and net value of rewards, these findings primarily come from choice paradigms that confound increased task difficulty with decreased reward probability. To resolve this issue, we designed novel tasks that kept probability of success – and therefore probability of reward – constant between levels of effort demand. In two experiments, participants completed a novel effort-based reward task that manipulated effort demand and either reward magnitude or probability of success. Electroencephalogram (EEG) data was recorded to compare an electrophysiological index of mPFC function (frontal midline theta (FMT)) to an index of incentive salience (component P3) at both cue evaluation and feedback phases. We found no evidence that FMT tracked effort demands or net value during cue evaluation. At feedback, however, FMT power was enhanced for high compared to low effort trials, but not modulated by reward magnitude or probability. Conversely, P3 was sensitive to reward magnitude and probability at both cue and feedback phases and only integrated expended effort costs at feedback, such that P3 amplitudes continued to scale with reward magnitude and probability but were also increased for high compared to low effort reward feedback. These findings suggest that, in the absence of option comparison and unequal likelihood of success, the mPFC does not track net value of prospective effort-based rewards. Instead, expended cognitive effort potentiates FMT power and enhances the saliency of rewards at feedback

Géodynamique andine : résumé étendus = Andean geodynamics : extended abstracts

Les structures andines ont une orientation sub-méridienne entre 27°S et 32°S. Cependant dans l'avant pays, à l'Est des chevauchements frontaux de la Précordillère, la faille de Desaguadero-Valle Fertil a une direction NO-SE. Elle constitue la limite orientale des Sierras Pampeanas. Les observations de surface et les données de sismique réflexion indiquent que cette faille a une structure en fleur et est caractérisée par un jeu transpressif senestre depuis le Néogène. (Résumé d'auteur