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Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalopathy caused by autosomal recessive mutations in the SLC13A5 gene. SLC13A5 encodes a transmembrane sodium/citrate cotransporter required for regulating citrate entry into cells. Four families with recessively inherited epileptic encephalopathy were sequenced by clinically accredited laboratories using commercially available epilepsy gene panels. Patients were examined by a neurologist and were clinically diagnosed with infantile epileptic encephalopathy. We present four families with global developmental delay, intellectual disability, and defective tooth development with four novel homozygous mutations in SLC13A5. The neurological examination showed spastic quadriplegia with increased deep tendon reflexes. Brain magnetic resonance imaging showed nonspecific signal abnormality of the bilateral hemispheric white matter. Despite similar clinical features, the conditions were based on different molecular mechanisms acting on SLC13A5 (abnormal splicing, large-scale deletions, and tandem-residue insertion). Our results extend the landscape of autosomal recessive inherited homozygous mutations in SLC13A5 that cause a distinctive syndrome of severe neonatal epileptic encephalopathy. Our observations confirm the homogeneity of epileptic encephalopathy and dental abnormalities as a distinct clinical marker for EIEE25 despite the heterogeneous functional and mutational background. [ABSTRACT FROM AUTHOR]

We report new occurrences and additions to previously described species of decapod crustaceans from the Late Cretaceous (Campanian-Maastrichtian) of Cuba. Three of the eight species herein described and illustrated were published previously: Vegaranina rivasi Arano-Ruiz et al.2018; Graptocarcinus collinsi Vega et al., 2020; and Icriobranchiocarcinus rodas Vega et al., 2021; however additional specimens are included. New records include one indeterminate lobster, two new genera and three new species of raninoids, and the first report of Ophthalmoplax cf. O. brasiliana Maury 1930 from Cuba. The most numerous specimens correspond to raninoids, which although not complete, can be described based on complementary pieces of the dorsal carapace and front, and they are assigned as follows: Aguadites hexagranula Vega, Garassino, Nyborg, and Pasini n. gen. sp.; Rodanina monosensis Vega, Garassino, Nyborg, and Pasini n. gen et sp., and Raninoides granulofrons Vega, Garassino, Nyborg, and Pasini n. sp., which represents the oldest record for the genus. Vegaranina rivasi is compared to V. precocia (Feldmann, Vega, Tucker, García-Barrera and Avendaño, 1996) from the Maastrichtian of Chiapas, Mexico, confirming different characters to keep both species as representatives of Vegaranina Van Bakel, Guinot, Artal, Fraaije and Jagt 2012a. The astacid lobster is represented by one isolated carapace (part and counterpart), preserved in a concretion. Two complete dorsal carapaces (one preserving the right cheliped) of Graptocarcinus collinsi represent additional information on the morphology of this species. An incomplete specimen of Ophtalmoplax cf. O. brasiliana , confirms the extensive distribution of this species during Maastrichtian times in the Atlantic shallow marine environments, from Brazil to North Carolina, USA, representing the missing link of the distribution to be found in the Caribbean province. A dorsal carapace is assigned to Icriobranchiocarcinus rodas , since it shows the typical transverse ridges of the species. This report represents an important addition to the knowledge of the Cretaceous crustaceans from Cuba and the Caribbean, confirming that this paleobiogeographic province was composed by a quite different assemblage from those reported from the same age (Campanian-Maastrichtian) of nearby regions such as NE Mexico, SE USA and NE South America. [ABSTRACT FROM AUTHOR]

Small pelagic fish species, such as anchovy (Engraulis ringens) and Pacific sardine (Sardinops sagax), play a crucial role in marine ecosystems worldwide as they serve as an important food source for higher-order predators, such as seabirds, marine mammals, and larger fish species; also from their high productivity in terms of fishery landings, they help with maintaining food security. However, small pelagic populations are known for their variability, with fluctuations in their distribution and abundance influenced by interactions with environmental and human-related factors in different spatio-temporal scales. This study aims to investigate the variability in anchovy and sardine populations in northern Chile and their potential environmental drivers by using a class of models that address the changes in variability (i.e. variance) over time, namely Generalized autoregressive conditional heteroskedasticity (GARCH) models. In particular, this work considers a GARCH model that includes an additional term in the variance, that could help to better model the variability fluctuations of both anchovy and sardine, explained by environmental factors. Since there is no estimation procedures for those type of models, we propose a hybrid Approximate Bayesian Computation (ABC) procedure that involves the use of Deep Learning structures for estimating the parameters of the model and obtain posterior distributions. The results are two-fold: First, the proposal of a new time series model that better explain conditional variance with exogenous variables and a novel estimation procedure, and second, a novel approach for establishing explicit models that address the variability of small pelagic fisheries and their interaction with the environment. • Anchovy and sardine landings variability is studied by considering its conditional variance over time. • A GARCH-X model that considers an observable exogenous variable is proposed for this analysis. • A set of local and global environmental variables are analyzed and two environmental indexes are presented based on the results from a principal components analysis. • The parameter estimation for the GARCH-X model is performed by a proposed hybrid ABC-CNN estimation procedure. • The good performance of the proposed models is compared with other GARCH-type models. [ABSTRACT FROM AUTHOR]

We report several raninoid specimens collected from the lower Maastrichtian Lower Siltstone Member of the Potrerillos Formation (Difunta Group), NE Mexico. These specimens were collected from fine-grained sandstones that crop out at the NE edge of the Parras Basin, Coahuila. This outcrop is very close to a structural feature that has been active since Late Jurassic times (San Marcos Fault) and has affected depositional lithostratigraphic units from the Upper Jurassic to Upper Cretaceous. The studied specimens are assigned to Bournelyreidus paredonensis n. sp. (Lyreididae Guinot, 1993) and Coahuilanina difuntaensis n. gen., n. sp. (Raninidae de haan, 1839). A new subfamily, Coahuilanininae is described to accommodate the new genus and species, Coahuilanina difuntaensis. The new frog crabs represent the first formally described raninoids from the lower Maastrichtian portion of Difunta Group, adding to an already diverse assemblage of raninoids from Mexico. • New taxa of crabs. • Upper Cretaceous. • NE Mexico. • Possible chemosynthetic communities. [ABSTRACT FROM AUTHOR]

Amino groups on the antibody surface (amino terminus and Lys) are very interesting conjugation targets due to their substantial quantities and selectivity toward various reactive groups. Oriented immobilization of antibodies via amino moieties on the Fc region instead of the antigen-binding fragment (Fab) is highly appreciated to conserve antigen-binding capacity. In this paper, targeting amino moieties on distinct regions, three antibody immobilization strategies were compared with the recognition ability of corresponding adsorbents. Our results demonstrate that oriented immobilization of antibodies onto heterofunctional chelate-epoxy support selectively involving Lys residues placed at the bottom of the Fc region, thus preserved the highest antigen recognition capacity (over 75% functionality). For homofunctional aldehyde support, immobilization at pH 10 demonstrates 50% remaining functionality due to the random orientation of tethered antibodies; while only 10% functionality remained when N-terminus were specifically conjugated at pH 8.5. With the rationalization of moieties density onto heterofunctional support, 2-fold recognition capacity was exhibited over randomly immobilization for antigens with higher size (β -galactosidase, 425 kDa vs. horseradish peroxidase, 40 kDa). Meanwhile, at least 97% of antigens with a varied concentration in diluted human serum were efficiently captured by the optimized chelate-epoxy support. Therefore, our antibody immobilization protocol proved the potential to be utilized as a promising candidate to capture voluminous antigens (large proteins and cells) in real samples. • IgGs were immobilized through NH 2 groups with different orientation on the support. • Immobilization through amino termini is very easy but highly inefficient. • Random immobilization is easy and efficient. • Immobilization through the bottom of the Fc region is the most efficient. • The best derivative adsorbs near 1.6 μmols of horseradish peroxidase per μmol of anti-HRP. [ABSTRACT FROM AUTHOR]

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To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.cell.2007.06.021 Byline: Francisco M. Vega, Anne J. Ridley

A 49-year-old kidney transplant recipient, presented with a skin rash, and interstitial infiltrates three weeks after receiving a live attenuated varicella-zoster vaccine. Varicella-zoster Oka-vaccine strain was detected in plasma by polymerase chain reaction and sequencing analysis targeting open reading frame 62 (ORF 62). She was treated successfully with intravenous acyclovir. Our case report supports the current contraindication of live attenuated varicella-zoster vaccine in the solid-organ transplant recipients. Recombinant subunit varicella-zoster vaccine may be the vaccine of choice in these patients; nevertheless, further information is required to establish its safety, efficacy, and optimal timing. [ABSTRACT FROM AUTHOR]

The enhanced thermal resistance of Salmonella in low-moisture foods (LMFs) presents a challenge when validating pathogen control processes. Product water is recognized as a controlling factor in thermal inactivation of Salmonella in or on LMFs, such as almonds. Water activity (aw) describes the state of water in a product; however, aw is temperature dependent and characterized by hysteresis between sorption states. Moisture content (%MC) describes the amount of water in a product; it is not temperature dependent and might be a more convenient metric than aw to account for water in thermal inactivation processes. To test these two metrics independently, Salmonella-inoculated almonds were equilibrated to two %MC levels but the same aw and to two aw levels but the same %MC. Equilibrated products were vacuum packaged and thermally treated in a water bath at 80°C. Survivors were recovered and enumerated. The resulting inactivation curves were used to fit the log-linear inactivation model, and the inactivation kinetics were compared. D-values ranged from 15.7 to 18.0 min, and the root mean square error was 0.25 to 0.69 log CFU/g. No differentiated (P > 0.05) effect attributable preferentially to aw or %MC was seen in the inactivation kinetics. The separate effects of aw and %MC on the inactivation kinetics of Salmonella in LMFs remain inconclusive, but analyses of data from prior studies strongly suggested an effect of sorption state. Further analysis is needed to identify which metric is best for modeling and validating thermal inactivation processes. [ABSTRACT FROM AUTHOR]

Abstract Two palaeocorystoid crab species, Cenocorystes libbyae n. sp. and Cenomanocarcinus cf. robertsi Feldmann, Schweitzer, Baltzly, Bennett, Jones, Mathias, Weaver and Yost, 2013, are recorded from the Maastrichtian (Upper Cretaceous) Peedee Formation at Rocky Point in Pender County (North Carolina). The new species of Cenocorystes represents the first record of the genus from the western hemisphere, and the Rocky Point specimens of both genera constitute the youngest Cretaceous occurrences to date. The type material of Palaeocorystes iserica Fritsch, in Fritsch and Kafka, 1887 has been re-examined and the species transferred to the genus Cenocorystes. [ABSTRACT FROM AUTHOR]

Abstract Twenty specimens and two fragments of the extinct lobster Meyeria mexicana Rathbun, 1935 were collected from two outcrops of the La Peña Formation in the Cerro Chino region, (Chihuahua State, northern Mexico). The biostratigraphical range of associated ammonites allows us to assign a late Aptian age (Kazanskyella minima Zone) for this decapods crustacean assemblage. Meyeria mexicana was poorly known because it was described based on a single specimen. New specimens were found at the same locality where the holotype was collected 82 years ago. The taxonomic analysis of the new specimens of this taxon allows us to fill in the gaps and produce an accurate description to support conspecificity with Atherfieldastacus magnus (M'Coy, 1849). Through the review of thin sections of the new material, the cuticular structure, including the lamination and pore canals are recognized in this decapod for first time. [ABSTRACT FROM AUTHOR]

Some thermal processes, such as pistachio roasting, are not yet well characterized with respect to the impact of product and process variables on Salmonella lethality. This study aimed to quantify the effects of process temperature, humidity, and initial product water activity (aw), on Salmonella lethality for in-shell pistachios. In-shell pistachios were inoculated with Salmonella Enteritidis PT 30 (∼8.5 log CFU/g), equilibrated (0.45 or 0.65 aw), and heated without soaking (“dry”) or after a pure-water or 27% NaCl brining pretreatment (“presoaked”). Inoculated pistachio samples (15 g) were heated in a laboratory-scale, moist-air convection oven at 104.4 or 118.3°C, humidities of ∼3, 15, or 30%, v/v (∼24.4, 54.4, or 69.4°C dew point), and air speed of 1.3 m/s. Salmonella survivors were quantified at six times during each treatment, targeting total reductions of ∼3 to 5 log. Survivor data were analyzed using analysis of variance to identify main effects (time, temperature, humidity, and initial aw) and two-term interactions with time. As expected, lethality increased (P < 0.05) with temperature and humidity. For example, the time to achieve a 4-log reduction decreased 50 to 80% when humidity increased from ∼3 to 30%. When the dry and presoaked treatments were analyzed separately, initial product aw (0.45 versus 0.65 aw or 0.75 versus 0.95 aw) did not affect lethality (P > 0.05). However, when comparing dry against presoaked treatments, the time to achieve a 4-log reduction decreased 55 to 85% (P < 0.05) for presoaked pistachios subjected to the same temperature-humidity treatment. Salt had no effect (P > 0.05) on lethality outcomes. These results, relative to initial aw, process humidity, brining, and salt effects on process lethality, are critically important and must be considered in the design and validation of thermal processes for Salmonella reduction in pistachio processing. [ABSTRACT FROM AUTHOR]

The Maastrichtian crustacean fauna from Chiapas is illustrated and reviewed with reports of new taxa, including the marine isopod Palaega sp., described for the first time from the lower Maastrichtian Ocozocoautla Formation, represented by molted remains of the posterior carapace. New specimens and a neotype of the raninoid Vegaranina precocia (Feldmann et al., 1996) are illustrated and compared with specimens of Vegaranina sp. from the late Maastrichtian of France. New specimens of Carcineretes woolacotti Withers, 1922, from the late Maastrichtian of Chiapas are reported and recognized as the sole species of the genus, distributed in the upper Maastrichtian lithostratigraphic units from the Caribbean; the new specimens are compared with others of the same species and age from the Guinea Corn Formation in Jamaica and the Barton Creek Formation in Belize. Icriobranchiocarcinus tzutzu Vega new genus and species, is reported as a new member of the Icriocarcininae Števcic, 2005, a diverse subfamily of lithophylacid crabs, along with illustrations and discussion on Branchiocarcinus flectus (Rathbun, 1926) (Maastrichtian, Gulf and Atlantic plains), Icriocarcinus xestos Bishop, 1988 (Maastrichtian, Pacific of California and Baja California), and Lithophylax trigeri A. Milne-Edwards and Brocchi, 1879 (Cenomanian, France), in order to confirm that all of these species belong to the Lithophylacidae Van Straelen, 1936, but to different subfamilies (Lithophylacinae and Icriocarcininae) and genera. Parazanthopsis meyapaquensis Vega, Feldmann, García-Barrera, Filkorn, Pimentel & Avendaño, 2001, is compared with Palaeoxanthopsis cretacea (Rathbun, 1902) (late Maastrichtian, Brazil), and with Palaeoxantho libertiensis Bishop, 1986 (late Maastrichtian, Mississippi), in order to illustrate differences and confirm that these species belong to separate genera. Megaxantho zoque Vega, Feldmann, García-Barrera, Filkorn, Pimentel & Avendaño, 2001 is reviewed and compared to Menippe frescoensis Remy, 1960 (early Eocene, Senegal) and Menippe mercenaria (Say, 1818) (living species, Gulf of Mexico), to confirm the late Maastrichtian species from Chiapas should be recognized as Menippe zoque new combination, representing the oldest confirmed species for the genus. The age and lithostratigraphic units for all these Maastrichtian crustaceans from Chiapas is reviewed and corrected, based on recent data reported by other scientists, who defined the litho and biostratigraphy with macro and microfossils reported from the study area, nearby Tuxtla Gutiérrez and Ocozocoautla, Chiapas. A correlation between the late Maastrichtian lithostratigraphic units of Chiapas and those from the Caribbean region is confirmed, and their distribution in turn of the Chicxulub impact area in the Yucatán Peninsula is illustrated. [ABSTRACT FROM AUTHOR]

Summary We studied 137 primary testicular germ cell tumors (TGCTs) using high-dimensional assays of genomic, epigenomic, transcriptomic, and proteomic features. These tumors exhibited high aneuploidy and a paucity of somatic mutations. Somatic mutation of only three genes achieved significance— KIT , KRAS , and NRAS —exclusively in samples with seminoma components. Integrated analyses identified distinct molecular patterns that characterized the major recognized histologic subtypes of TGCT: seminoma, embryonal carcinoma, yolk sac tumor, and teratoma. Striking differences in global DNA methylation and microRNA expression between histology subtypes highlight a likely role of epigenomic processes in determining histologic fates in TGCTs. We also identified a subset of pure seminomas defined by KIT mutations, increased immune infiltration, globally demethylated DNA, and decreased KRAS copy number. We report potential biomarkers for risk stratification, such as miRNA specifically expressed in teratoma, and others with molecular diagnostic potential, such as CpH (CpA/CpC/CpT) methylation identifying embryonal carcinomas. [ABSTRACT FROM AUTHOR]

The development of unmanned aerial vehicle photogrammetry over the last decade has allowed terrain that is very difficult for humans to access to be captured at very high spatial and temporal resolutions. This paper deals with the application of this technique to the study of extreme topography in a near-vertical road cut-slope. Three photogrammetric projects were carried out: one derived from images taken with the camera oriented horizontally, one derived from images taken with the camera tilted at 45°, and one derived from both sets of images. Point clouds and orthophotos were generated for each of these projects. The best accuracies were achieved by the photogrammetric products derived from the combined images set, which had RMSE equal to 0.053 m, 0.070 m and 0.061 m in X, Y and Z direction, respectively. A software program was developed to generate contour lines and cross-sections derived from the point cloud, which was able to represent all terrain geometric characteristics, such as several Z coordinates for a given planimetric (X, Y) point. Furthermore, comparing the contour lines and cross-sections generated from the point cloud using the program developed in this project to those generated from the digital surface model showed that the former are capable of representing geometric terrain characteristics that the latter cannot. [ABSTRACT FROM AUTHOR]

Precision oncology uses genomic evidence to match patients with treatment but often fails to identify all patients who may respond. The transcriptome of these ‘‘hidden responders’’ may reveal responsive molecular states. We describe and evaluate a machine-learning approach to classify aberrant pathway activity in tumors, which may aid in hidden responder identification. The algorithm integrates RNA-seq, copy number, and mutations from 33 different cancer types across The Cancer Genome Atlas (TCGA) PanCanAtlas project to predict aberrant molecular states in tumors. Applied to the Ras pathway, the method detects Ras activation across cancer types and identifies phenocopying variants. The model, trained on human tumors, can predict response to MEK inhibitors in wild-type Ras cell lines. We also present data that suggest that multiple hits in the Ras pathway confer increased Ras activity. The transcriptome is underused in precision oncology and, combined with machine learning, can aid in the identification of hidden responders. [ABSTRACT FROM AUTHOR]

A new genus and species of the Mathildellidae Prebranchioplax cretacica (Crustacea: Decapoda: Goneplacoidea) is reported from shallow marine sediments of the upper Campanian Parras Shale and Cerro del Pueblo Formation (Parras Basin), Coahuila, NE Mexico. Prebranchioplax cretacica was collected from siliceous concretions associated with more abundant specimens of the retroplumid Costacopluma mexicana Vega and Perrilliat, 1989. P. cretacica bears similarities to Eocene species of Branchioplax from Japan, USA (Alaska and Washington), England, Hungary and Tajikistan as well as with Eogeryonidae (Portunoidea) species from the Upper Cretaceous of Spain and Marocarcinidae ( Styracocarcinus) from Morocco. However, clear differences in the carapace frontal shape places P. cretacica in the Mathildellidae. This record represents the oldest known Mathildellidae, and along with the Retroplumidae, appear to have originated during the Late Cretaceous in ancient seas of Mexico, with a wide distribution during Paleogene times becoming restricted today to deep waters of the Indo-Pacific region and Atlantic Ocean. Comments on preservation and morphology of Costacopluma mexicana are also included. Crab specimens preserved in siliceous concretions from one locality (Entronque) show peculiar desiccation marks, and a possible model of taphonomy. [ABSTRACT FROM AUTHOR]

Three specimens of the lobster “ Meyeria rapax” , which represent the first record of this species in Spain, were collected in the Artoles Formation cropping out in the surroundings of the town of Ares del Maestrat in the Maestrat Basin. Microfacies and paleontological analyses of the sedimentary succession containing the fossil lobsters allow us to infer a near-coastal depositional setting. Numerical ages derived from Sr-isotope analyses combined with previous chronostratigraphic studies of the Artoles Formation suggest an early Barremian age for the stratigraphic interval, which is located around the middle part of the formation, with lobsters studied. The study of the morphological features observed in the record of the “ Meyeria rapax” specimens from Spain supports the ascription of the species to the new genus Atherfieldastacus proposed recently for the Mecochiridae family. [ABSTRACT FROM AUTHOR]

Digital Surface Models and orthoimages at high spatial and temporal resolution and accuracy is of increasing importance for many applications. From several years ago photogrammetry-UAV is being used to produce these topographic products. The aim of this study is to analyse the influence of the number of Ground Control Points used for georeferencing on Digital Surface Model and orthoimage accuracies obtained with UAV-photogrammetry. In this purpose, 160 images were taken on a 17.64 ha surface at 120 m altitude above ground level, and five replications of photogrammetric projects taking into account 4, 5, 6, 7, 8, 9, 10, 15, and 20 GCPs were made. Root Mean Square Error (RMSE) was used as accuracy measurement. Optimal results for RMSE X , RMSE Y and RMSE XY mean ± standard deviation values were reached for 15 GCPs: 3.3 ± 0.346, 3.2 ± 0.441, 4.6 ± 0.340 and 4.5 ± 0.169 cm respectively. Similar conclusions was derived for vertical accuracy: lower RMSE Z mean ± standard deviation values were reached for 15 and 20 GCPs: 5.8 ± 1.21 cm and 4.7 ± 0.860 cm respectively. In view of these results maps at 1:150 scale and contour interval of 15 cm can be obtained from UAV-photogrammetry. [ABSTRACT FROM AUTHOR]