Trajectory Discrimination and Peripersonal Space Perception in Newborns

The ability to discriminate the trajectories of moving objects is highly adaptive and fundamental for physical and social interactions. Therefore, we could reasonably expect sensitivity to different trajectories already at birth, as a precursor of later communicative and defensive abilities. To investigate this possibility, we measured newborns' looking behavior to evaluate their ability to discriminate between visual stimuli depicting motion along different trajectories happening within the space surrounding their body. Differently from previous studies, we did not take into account defensive reactions, which may not be elicited by impending collision as newborns might not categorize approaching stimuli as possible dangers. In two experiments, we showed that newborns display a spontaneous visual preference for trajectories directed toward their body. We found this visual preference when visual stimuli depicted motion in opposite directions (approaching vs. receding) as well as when they both moved toward the peripersonal space and differed only in their specific target (i.e., the body vs. the space around it). These findings suggest that at birth human infants seem to be already equipped with visual mechanisms predisposing them to perceive their presence in the environment and to adaptively focus their attention on the peripersonal space and their bodily self

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

BACKGROUND: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. METHODS: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. RESULTS: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. CONCLUSIONS: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.Fil: Weber, Megan L.. University of Pittsburgh; Estados UnidosFil: Hsin, Hong Yuan. University of Pittsburgh; Estados UnidosFil: Kalay, Ersan. Karadeniz Technical University; TurquíaFil: Brožková, Dana Š. Charles University; República Checa. University Hospital Motol; República ChecaFil: Shimizu, Takehiko. Nihon University. School of Dentistry; JapónFil: Bayram, Merve. Medipol Istanbul University; TurquíaFil: Deeley, Kathleen. University of Pittsburgh; Estados UnidosFil: Küchler, Erika C.. University of Pittsburgh; Estados UnidosFil: Forella, Jessalyn. University of Pittsburgh; Estados UnidosFil: Ruff, Timothy D.. University of Pittsburgh; Estados UnidosFil: Trombetta, Vanessa M.. University of Pittsburgh; Estados UnidosFil: Sencak, Regina C.. University of Pittsburgh; Estados UnidosFil: Hummel, Michael. University of Pittsburgh; Estados UnidosFil: Briseño Ruiz, Jessica. University of Pittsburgh; Estados UnidosFil: Revu, Shankar K.. University of Pittsburgh; Estados UnidosFil: Granjeiro, José M.. Universidade Federal Fluminense; BrasilFil: Antunes, Leonardo S.. Universidade Federal Fluminense; BrasilFil: Antunes, Livia A.. Universidade Federal Fluminense; BrasilFil: Abreu, Fernanda V.. Universidade Federal Fluminense; BrasilFil: Costabel, Marcelo C.. Universidade Federal do Rio de Janeiro; BrasilFil: Tannure, Patricia N.. Veiga de Almeida University; Brasil. Salgado de Oliveira University; BrasilFil: Koruyucu, Mine. Istanbul University; TurquíaFil: Patir, Asli. Medipol Istanbul University; TurquíaFil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Mereb, Juan C.. Estudio Colaborativo Latino Americano de Malformaciones Congénitas; ArgentinaFil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Orioli, Iêda M.. Universidade Federal do Rio de Janeiro; BrasilFil: Marazita, Mary L.. University of Pittsburgh; Estados UnidosFil: Ouyang, Hongjiao. University of Pittsburgh; Estados UnidosFil: Jayaraman, Thottala. University of Pittsburgh; Estados UnidosFil: Seymen, Figen. Istanbul University; TurquíaFil: Vieira, Alexandre R.. University of Pittsburgh; Estados Unido

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.

DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between chromatin and genetic control of gene regulation, we quantified allelic variability in transcription factor binding, histone modifications, and gene expression within humans. We found abundant allelic specificity in chromatin and extensive local, short-range, and long-range allelic coordination among the studied molecular phenotypes. We observed genetic influence on most of these phenotypes, with histone modifications exhibiting strong context-dependent behavior. Our results implicate transcription factors as primary mediators of sequence-specific regulation of gene expression programs, with histone modifications frequently reflecting the primary regulatory event

Exploring out-of-equilibrium quantum magnetism and thermalization in a spin-3 many-body dipolar lattice system

Understanding quantum thermalization through entanglement build-up in isolated quantum systems addresses fundamental questions on how unitary dynamics connects to statistical physics. Here, we study the spin dynamics and approach towards local thermal equilibrium of a macroscopic ensemble of S = 3 spins prepared in a pure coherent spin state, tilted compared to the magnetic field, under the effect of magnetic dipole-dipole interactions. The experiment uses a unit filled array of 104 chromium atoms in a three dimensional optical lattice, realizing the spin-3 XXZ Heisenberg model. The buildup of quantum correlation during the dynamics, especially as the angle approaches pi/2, is supported by comparison with an improved numerical quantum phase-space method and further confirmed by the observation that our isolated system thermalizes under its own dynamics, reaching a steady state consistent with the one extracted from a thermal ensemble with a temperature dictated from the system's energy. This indicates a scenario of quantum thermalization which is tied to the growth of entanglement entropy. Although direct experimental measurements of the Renyi entropy in our macroscopic system are unfeasible, the excellent agreement with the theory, which can compute this entropy, does indicate entanglement build-up.Comment: 12 figure

Genome-wide binding of the CRISPR endonuclease Cas9 in mammalian cells

Bacterial type II CRISPR-Cas9 systems have been widely adapted for RNA-guided genome editing and transcription regulation in eukaryotic cells, yet their in vivo target specificity is poorly understood. Here we mapped genome-wide binding sites of a catalytically inactive Cas9 (dCas9) from Streptococcus pyogenes loaded with single guide RNAs (sgRNAs) in mouse embryonic stem cells (mESCs). Each of the four sgRNAs we tested targets dCas9 to between tens and thousands of genomic sites, frequently characterized by a 5-nucleotide seed region in the sgRNA and an NGG protospacer adjacent motif (PAM). Chromatin inaccessibility decreases dCas9 binding to other sites with matching seed sequences; thus 70% of off-target sites are associated with genes. Targeted sequencing of 295 dCas9 binding sites in mESCs transfected with catalytically active Cas9 identified only one site mutated above background levels. We propose a two-state model for Cas9 binding and cleavage, in which a seed match triggers binding but extensive pairing with target DNA is required for cleavage.National Institutes of Health (U.S.) (Grant RO1-GM34277)National Institutes of Health (U.S.) (Grant R01-CA133404)National Cancer Institute (U.S.) (Grant PO1-CA42063)National Cancer Institute (U.S.) (Cancer Center Support (Core) Grant P30-CA14051)National Institutes of Health (U.S.) (Director's Pioneer Award 1DP1-MH100706)Damon Runyon Cancer Research FoundationKinship Foundation. Searle Scholars ProgramSimons Foundatio

Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries

Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1–5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.Fil: Shimizu, T.. Nihon University of Dentistry; JapónFil: Deeley, K.. University of Pittsburgh; Estados UnidosFil: Briseño Ruiz, J.. University of Pittsburgh; Estados UnidosFil: Faraco Junior, I. M.. University of Pittsburgh; Estados UnidosFil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Brancher, J. A.. Pontifical Catholic University of Paraná; BrasilFil: Pecharki, G. D.. Pontifical Catholic University of Paraná; BrasilFil: Küchler, E. C.. Universidade Federal Fluminense; BrasilFil: Tannure, P. N.. Universidade Federal do Rio de Janeiro; BrasilFil: Lips, A.. Universidade Federal do Rio de Janeiro; BrasilFil: Vieira, T. C. S.. Universidade Federal Fluminense; BrasilFil: Patir, A.. Istanbul Medipol Universit; TurquíaFil: Yildirim, M.. Istanbul University; TurquíaFil: Mereb, J. C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Resick, J. M.. University of Pittsburgh; Estados UnidosFil: Brandon, C. A.. University of Pittsburgh; Estados UnidosFil: Cooper, M. E.. University of Pittsburgh; Estados UnidosFil: Seymen, F.. Istanbul University; TurquíaFil: Costa, M. C.. Universidade Federal do Rio de Janeiro; BrasilFil: Granjeiro, J. M.. Universidade Federal Fluminense; BrasilFil: Trevilatto, P. C.. Pontifical Catholic University of Paraná; BrasilFil: Orioli, I. M.. Universidade Federal do Rio de Janeiro; Brasil. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Castilla, Eduardo Enrique. Instituto Oswaldo Cruz; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Marazita, M. L.. University of Pittsburgh; Estados UnidosFil: Vieira, A. R.. University of Pittsburgh; Estados Unido

Survival and reoperation in acute aortic syndromes - a single-centre experience of 912 patients

OBJECTIVES: Acute aortic syndromes are associated with poor outcomes, despite diagnostic and therapeutic advances. We analysed trends in volumes and outcomes from 2000 to 2021. METHODS: The study population includes 494 type A acute aortic syndromes (TAAAS) (54.2%) and 418 type B acute aortic syndromes (TBAAS) (45.8%). Primary outcomes were in-hospital mortality, long-term survival and freedom from aortic reoperation. RESULTS: Regardless the type of acute aortic syndrome, patient volumes increased over time. Patients with TBAAS were older, more likely to have comorbid conditions and previous cardiac surgery (P < 0.001), while cerebrovascular accidents were more frequent in TAAAS (P < 0.05). Among TAAAS, 143 (28.9%) required total arch and 351 (71.1%) hemiarch replacement. TBAAS management was medical therapy in 182 (43.5%), endovascular in 198 (47.4%) and surgical in 38 (9.1%) cases. Overall in-hospital mortality was 14.6% [18.2% in TAAAS (95% confidence interval (CI) 14.4-21.2%) vs 10.7% in TBAAS (95% CI 7.8%-13.7%); P = 0.0027]. After propensity score adjustment, in-hospital mortality exhibited a significantly decreasing trend from 2000 to 2021 (P < 0.001) in TAAAS and TBAAS. 1-, 5- and 10-year survival was 74.2%, 62.2% and 45.5% in TAAAS and 75.4%, 60.7% and 41.0% in TBAAS (P = 0.975), with no differences among treatment strategies. The adjusted cumulative reoperation risk at 10 years was more than two-fold in TBAAS versus TAAAS (9.5% vs 20.5%, hazard ratio (HR) = 2.30, 95% I 1.31-4.04). CONCLUSIONS: In the last decades, better patient triage and surgical/endovascular techniques led to substantial improvements in the management of acute aortic syndrome, with reduction in early mortality and reoperation rate. However, long-term mortality is still >50%

Enamel Formation Genes Influence Enamel Microhardness Before and After Cariogenic Challenge

There is evidence for a genetic component in caries susceptibility, and studies in humans have suggested that variation in enamel formation genes may contribute to caries. For the present study, we used DNA samples collected from 1,831 individuals from various population data sets. Single nucleotide polymorphism markers were genotyped in selected genes (ameloblastin, amelogenin, enamelin, tuftelin, and tuftelin interacting protein 11) that influence enamel formation. Allele and genotype frequencies were compared between groups with distinct caries experience. Associations with caries experience can be detected but they are not necessarily replicated in all population groups and the most expressive results was for a marker in AMELX (p = 0.0007). To help interpret these results, we evaluated if enamel microhardness changes under simulated cariogenic challenges are associated with genetic variations in these same genes. After creating an artificial caries lesion, associations could be seen between genetic variation in TUFT1 (p = 0.006) and TUIP11 (p = 0.0006) with enamel microhardness. Our results suggest that the influence of genetic variation of enamel formation genes may influence the dynamic interactions between the enamel surface and the oral cavity. © 2012 Shimizu et al

Influencia de la intensidad lumínica en el crecimiento in-vitro de ápices radiculares de mandioca

Yemas caulinares se pusieron a crecer in-vitro en medio de Torrey. Unas tenían como fuente hidrocarbonada sacarosa al 3%, otras glucosa al 3% y las restantes lactosa al 3%. Cuando estas yemas caulinares formaron raíces, se procedió a repicar los ápices radiculares in-vitro en medio de Torrey con sacarosa al 3% y se colocaron los matraces en las siguientes intensidades lumínícas: a)- 50.000 luxes (luz natural) durante 12 horas diarias; b)- 3.000 luxes (luz artificial) durante 12 horas diarias; c)- 600 luxes (luz artificial) durante 12 horas diarias; d)- Oscuridad durante las 24 horas del día y e)- 600 luxes (luz artificial) durante las 24 horas del día. En cada variante se puso igual cantidad de ápices radiculares que se habían formado en las distintasfuentes hidrocarbonadas.La; temperatura de todas las variantes fue durante el día 319 C y de noche 219 C, con peqUEñas variaciones.Además se analizó el contenido de HCN de los ápices que se "sembraron". Se mantuvieron en ese medio durante 2 meses (con repiques cada 15 días).Los resultados demostraron que los ápices que mas crecieron y que tuvieron mayor peso fresco, fueron los que recibieron la mayor intensidad lumínica.Los que menos crecieron y tuvieron menor peso fresco, fueron los que estuvieron en oscuridad. Además, los resultados demostraron que la fuente hidrocarbonada en la que crecieron las yemas caulinares que dieron origen a las raíces, tiene influencia sobre el crecimiento posterior del ápice radicular. Después de dos meses de crecimiento in-vitro, las raíces no habían aumentado su contenido en HCN y en la mayoría de los casos éste disminuyó

Main roads and land cover shaped the genetic structure of a Mediterranean island wild boar population

Patterns of genetic differentiation within and among animal populations might vary due to the simple effect of distance or landscape features hindering gene flow. An assessment of how landscape connectivity affects gene flow can help guide man -agement, especially in fragmented landscapes. Our objective was to analyze popu-lation genetic structure and landscape genetics of the native wild boar (Sus scrofa meridionalis) population inhabiting the island of Sardinia (Italy), and test for the ex -istence of Isolation- by- Distance (IBD), Isolation- by- Barrier (IBB), and Isolation- by- Resistance (IBR). A total of 393 Sardinian wild boar samples were analyzed using a set of 16 microsatellite loci. Signals of genetic introgression from introduced non- native wild boars or from domestic pigs were revealed by a Bayesian cluster analysis includ -ing 250 reference individuals belonging to European wild populations and domestic breeds. After removal of introgressed individuals, genetic structure in the popula -tion was investigated by different statistical approaches, supporting a partition into five discrete subpopulations, corresponding to five geographic areas on the island: north- west (NW), central west (CW), south- west (SW), north- central east (NCE), and south- east (SE). To test the IBD, IBB, and IBR hypotheses, we optimized resistance surfaces using genetic algorithms and linear mixed- effects models with a maximumlikelihood population effects parameterization. Landscape genetics analyses revealedthat genetic discontinuities between subpopulations can be explained by landscape elements, suggesting that main roads, urban settings, and intensively cultivated areas are hampering gene flow (and thus individual movements) within the Sardinian wild boar population. Our results reveal how human-transformed landscapes can affect genetic connectivity even in a large-sized and highly mobile mammal such as the wild boar, and provide crucial information to manage the spread of pathogens, including the African Swine Fever virus, endemic in Sardinia