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The title cobalt(II) complex, [CoCl2(C3H6N4O)4], was obtained from metallic cobalt by direct synthesis. There are two Co atoms in the asymmetric unit, each lying on an inversion centre and adopting a distorted octahedral coordination. Classical and non-classical hydrogen bonds are responsible for formation of a three-dimensional polymeric network in the crystal.

The asymmetric unit of the title compound, [CoCl2(C3H6N4)]n, contains two Co atoms, both lying on inversion centres, two Cl atoms and one 1,5-dimethyltetrazole ligand. The coordination polyhedra of both Co atoms adopt flattened octahedral geometry, with two N atoms from two ligands in axial positions and four Cl atoms in equatorial sites. Neighbouring Co atoms are linked together via two bridging Cl atoms and one tetrazole ring to form polymeric chains running along the a axis.

The crystal structure of the title polymeric complex, [CuCl2(C3H6N4O)2]n, was obtained by the Rietveld refinement from laboratory X-ray powder diffraction data collected at room temperature. The unique CuII ion lies on an inversion center and is in a slightly distorted octahedral coordination environment. In the hydroxyethyl group, all H atoms, the O atom and its attached C atom are disordered over two positions; the site occupancy factors are ca 0.6 and 0.4. The OH group is involved in an intramolecular O—H...N hydrogen bond.

latentnet is a package to fit and evaluate statistical latent position and cluster models for networks. Hoff, Raftery, and Handcock (2002) suggested an approach to modeling networks based on positing the existence of an latent space of characteristics of the actors. Relationships form as a function of distances between these characteristics as well as functions of observed dyadic level covariates. In latentnet social distances are represented in a Euclidean space. It also includes a variant of the extension of the latent position model to allow for clustering of the positions developed in Handcock, Raftery, and Tantrum (2007).The package implements Bayesian inference for the models based on an Markov chain Monte Carlo algorithm. It can also compute maximum likelihood estimates for the latent position model and a two-stage maximum likelihood method for the latent position cluster model. For latent position cluster models, the package provides a Bayesian way of assessing how many groups there are, and thus whether or not there is any clustering (since if the preferred number of groups is 1, there is little evidence for clustering). It also estimates which cluster each actor belongs to. These estimates are probabilistic, and provide the probability of each actor belonging to each cluster. It computes four types of point estimates for the coefficients and positions: maximum likelihood estimate, posterior mean, posterior mode and the estimator which minimizes Kullback-Leibler divergence from the posterior. You can assess the goodness-of-fit of the model via posterior predictive checks. It has a function to simulate networks from a latent position or latent position cluster model.

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Topotactic transformations involve structural changes between related crystal structures due to a loss or gain of material while retaining a crystallographic relationship. The perovskite oxide La0.7Sr0.3CoO3 (LSCO) is an ideal system for investigating phase transformations due to its high oxygen vacancy conductivity, relatively low oxygen vacancy formation energy, and strong coupling of the magnetic and electronic properties to the oxygen stoichiometry. While the transition between cobaltite perovskite and brownmillerite (BM) phases has been widely reported, further reduction beyond the BM phase lacks systematic studies. In this paper, we study the evolution of the physical properties of LSCO thin films upon exposure to highly reducing environments. We observe the rarely reported crystalline Ruddlesden-Popper phase, which involves the loss of both oxygen anions and cobalt cations upon annealing where the cobalt is found as isolated Co ions or Co nanoparticles. First-principles calculations confirm that the concurrent loss of oxygen and cobalt ions is thermodynamically possible through an intermediary BM phase. The strong correlation of the magnetic and electronic properties to the crystal structure highlights the potential of utilizing ion migration as a basis for emerging applications such as neuromorphic computing.

Background: Previously obtained results indicate that faces are / preattentively/ detected in the visual scene very fast, and information on facial expression is rapidly extracted at the lower levels of the visual system. At the same time different facial attributes make different contributions in facial expression recognition. However, it is known, among the preattentive mechanisms there are none that would be selective for certain facial features, such as eyes or mouth. The aim of our study was to identify a candidate for the role of such a mechanism. Our assumption was that the most informative areas of the image are those characterized by spatial heterogeneity, particularly with nonlocal contrast changes. These areas may be identified / in the human visual system/ by the second-order visual / mechanisms/ filters selective to contrast modulations of brightness gradients. Methods: We developed a software program imitating the operation of these / mechanisms/ filters and finding areas of contrast heterogeneity in the image. Using this program, we extracted areas with maximum, minimum and medium contrast modulation amplitudes from the initial face images, then we used these to make three variants of one and the same face. The faces were demonstrated to the observers along with other objects synthesized the same way. The participants had to identify faces and define facial emotional expressions. Results: It was found that the greater is the contrast modulation amplitude of the areas shaping the face, the more precisely the emotion is identified. Conclusions: The results suggest that areas with a greater increase in nonlocal contrast are more informative in facial images, and the second-order visual / mechanisms/ filters can claim the role of /filters/ elements that detect areas of interest, attract visual attention and are windows through which subsequent levels of visual processing receive valuable information.

BackgroundThe X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.MethodsWe used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.ResultsTwelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.ConclusionsOur data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.

Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.