Cortical thickness and behavior abnormalities in children born preterm

Abstract Aim To identify long-term effects of preterm birth and of periventricular leukomalacia (PVL) on cortical thickness (CTh). To study the relationship between CTh and cognitive-behavioral abnormalities. Methods We performed brain magnetic resonance imaging on 22 preterm children with PVL, 14 preterm children with no evidence of PVL and 22 full-term peers. T1-weighted images were analyzed with FreeSurfer software. All participants underwent cognitive and behavioral assessments by means of the Wechsler Intelligence Scales for Children-Fourth Edition (WISC-IV) and the Child Behavior Checklist (CBCL). Results We did not find global CTh differences between the groups. However, a thinner cortex was found in left postcentral, supramarginal, and caudal middle rostral gyri in preterm children with no evidence of PVL than in the full-term controls, while PVL preterm children showed thicker cortex in right pericalcarine and left rostral middle frontal areas than in preterm children with no evidence of PVL. In the PVL group, internalizing and externalizing scores correlated mainly with CTh in frontal areas. Attentional scores were found to be higher in PVL and correlated with CTh increments in right frontal areas. Interpretation The preterm group with no evidence of PVL, when compared with full-term children, showed evidence of a different pattern of regional thinning in the cortical gray matter. In turn, PVL preterm children exhibited atypical increases in CTh that may underlie their prevalent behavioral problems

Globalization, the ambivalence of European integration and the possibilities for a post-disciplinary EU studies

Using the work of Manuel Castells as a starting point, this article explores the ambivalent relationship between globalization and European integration and the variety of ways in which the mainstream political science of the EU has attempted to deal with this issue. The analysis here suggests that various 'mainstreaming' disciplinary norms induce types of work that fail to address fully the somewhat paradoxical and counter-intuitive range of possible relationships between globalization and European integration. The article explores critically four possible analytical ways out of this paradox—abandonment of the concept of globalization, the development of definition precision in globalization studies, the reorientation of work to focus on globalization as discourse, and inter- and post-disciplinarity. The argument suggests that orthodox discussions of the relationship require a notion of social geography that sits at odds with much of the literature on globalization and while greater dialogue between disciplines is to be welcomed, a series of profound epistemological questions need to be confronted if studies of the interplay between global and social process are to be liberated from their disciplinary chains

Cognitive functioning in dyskinetic cerebral palsy: Its relation to motor function, communication and epilepsy

Background: Cerebral palsy (CP) is a disorder of motor function often accompanied by cognitive impairment. There is a paucity of research focused on cognition in dyskinetic CP and on the potential effect of related factors. Aim: To describe the cognitive profile in dyskinetic CP and to assess its relationship with motor function and associated impairments. Method: Fifty-two subjects with dyskinetic CP (28 males, mean age 24 y 10 mo, SD 13 y) and 52 typically-developing controls (age- and gender-matched) completed a comprehensive neuropsychological assessment. Gross Motor Function Classification System (GMFCS), Communication Function Classification System (CFCS) and epilepsy were recorded. Cognitive performance was compared between control and CP groups, also according different levels of GMFCS. The relationship between cognition, CFCS and epilepsy was examined through partial correlation coefficients, controlling for GMFCS. Results: Dyskinetic CP participants performed worse than controls on all cognitive functions except for verbal memory. Milder cases (GMFCS I) only showed impairment in attention, visuoperception and visual memory. Participants with GMFCS II-III also showed impairment in language-related functions. Severe cases (GMFCS IV-V) showed impairment in intelligence and all specific cognitive functions but verbal memory. CFCS was associated with performance in receptive language functions. Epilepsy was related to performance in intelligence, visuospatial abilities, visual memory, grammar comprehension and learning. Conclusion: Cognitive performance in dyskinetic CP varies with the different levels of motor impairment, with more cognitive functions impaired as motor severity increases. This study also demonstrates the relationship between communication and epilepsy and cognitive functioning, even controlling for the effect of motor severity

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Chromosomal rearrangements; Primary immunodeficiencies; Syndromic immunodeficienciesReordenacions cromosòmiques; Immunodeficiències primàries; Immunodeficiències sindròmiquesReordenamientos cromosómicos; Inmunodeficiencias primarias; Inmunodeficiencias sindrómicasSyndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large chromosomal aberrations. Antibody deficiency is the most prevalent immunological abnormality in patients with syndromic immunodeficiencies caused by chromosomal rearrangements, and usually manifests as a common variable immunodeficiency (CVID)-like phenotype. Here we describe a patient with a complex phenotype, including neurodevelopmental delay, dysmorphic features, malformations, and CVID (hypogammaglobulinemia, reduced pre-switch and switch memory B cells, and impaired vaccine response). Microarray-based comparative genomic hybridization (aCGH) revealed a 13-Mb deletion on chromosome 4q22.2-q24 involving 53 genes, some of which were related to the developmental manifestations in our patient. Although initially none of the affected genes could be linked to his CVID phenotype, subsequent reanalysis identified NFKB1 haploinsufficiency as the cause. This study underscores the value of periodic reanalysis of unsolved genetic studies performed with high-throughput technologies (eg, next-generation sequencing and aCGH). This is important because of the ongoing incorporation of new data establishing the relationship between genes and diseases. In the present case, NFKB1 had not been associated with human disease at the time aCGH was performed. Eight years later, reanalysis of the genes included in the chromosome 4 deletion enabled us to identify NFKB1 haploinsufficiency as the genetic cause of our patient’s CVID. In the future, other genes included in the deletion may be linked to human disease, allowing us to better define the molecular basis of our patient’s complex clinical phenotype.This study was funded by Instituto de Salud Carlos III, grants PI17/00660 and PI20/00761, cofinanced by the European Regional Development Fund (ERDF). This study was also funded by the Jeffrey Modell Foundation. This work is supported by the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA)

Do consumers dream of digital advertising? New communication rules in social media

O objetivo deste artigo é analisar a forma recente de comunicação e as regras retóricas utilizadas atualmente para otimizar o impacto publicitário nas mídias sociais. Depois de ter descrito, com a ajuda da literatura, as principais diretrizes comunicativas para novas mídias e mídias sociais, as recentes regras de comunicação serão testadas com os consumidores. Portanto, para melhor elaborar esses tópicos, faremos uso de uma pesquisa exploratória realizada na Universidade Iulm de Milão, na primavera de 2019. A pesquisa responderá aos gostos e desgostos em relação à comunicação na mídia social e publicidade. Assim, as descobertas da pesquisa sobre o consumidor podem ajudar pesquisadores e profissionais de marketing a entender melhor o nascimento dessas novas formas de comunicação. Outro foco desta pesquisa será analisar se a tecnologia social é um viés e, se for, até que ponto. Por fim, os consumidores adoram a publicidade digital nas mídias sociais? Na verdade, toda nova tecnologia requer novas linguagens e, com efeito, isso deve acontecer quando o impacto tecnológico estiver relacionado à mídia. Em suma, as mídias sociais parecem ser um bom terreno para explorar as mudanças recentes na comunicação e, especificamente, na publicitária. As descobertas da pesquisa exploratória podem levar a outras questões, tais como: a comunicação e a propaganda mudam da mesma forma? No mesmo ritmo? Elas vão na mesma direção? Em que medida? A publicidade simplesmente tem que seguir as novas regras de comunicação ou é forçada a usar e inventar novas formas de comunicação? O presente artigo somente será capaz de delinear e rapidamente esquematizar possíveis respostas para as questões que, de fato, estão destinadas a desenvolver outras considerações e pesquisas adicionais.El presente artículo tiene como objetivo analizar la actual forma de comunicación y las normas retóricas utilizadas para optimizar el impacto de la publicidad en los medios sociales. Con base en la literatura, se describieron las principales directrices comunicativas de los nuevos medios y de los medios sociales, y se sometieron las nuevas normas de comunicación a los consumidores. Para elaborar estos temas, se hizo una investigación exploratoria realizada en la Universidad Iulm de Milán, en la primavera de 2019. En la encuesta tenían que contestar las preferencias y las no preferencias en relación a la comunicación en los medios sociales y la publicidad. Se espera que los hallazgos de la investigación sobre el consumidor puedan aportar más informaciones a los investigadores y profesionales de marketing para mejor entender el surgimiento de esas nuevas formas de comunicación. Otro objetivo de esta investigación es analizar si la tecnología social es una tendencia y hasta qué punto lo es. Y por último es conocer si los consumidores les gusta la publicidad digital en los medios sociales. Cada nueva tecnología requiere nuevos lenguajes, y esto debe suceder cuando se vincule el nuevo impacto tecnológico con los medios. En resumen, los medios sociales parecen ser una buena forma de explorar los recientes cambios en la comunicación, más específicamente en la comunicación publicitaria. Los hallazgos de la investigación exploratoria pueden llevar a nuevos cuestionamientos, tales como: ¿La comunicación y la propaganda pasan por los mismos cambios? ¿En el mismo ritmo? ¿Van hacia la misma dirección? ¿En qué punto? ¿La publicidad simplemente debe seguir las nuevas normas de comunicación o es obligada a utilizar e inventar nuevas formas de comunicarse? El presente artículo solamente puede delinear y esquematizar posibles respuestas a estos cuestionamientos, que pueden desarrollarse en otras consideraciones e investigaciones adicionales.This paper aims to analyze the recent forms of communication and the rhetoric rules that are used nowadays to optimize the advertising impact on social media. After having described, with the help of the literature, the main communicative guidelines for new media and social media, the new communication rules will be tested with the consumers. Therefore, to better elaborate on these topics, we will make use of an exploratory research conducted in the IULM University of Milan in spring 2019. The research will provide answers as to the likes and dislikes regarding the social media communication and advertising. Thus, the consumer research findings can help researchers and marketers to better understand the rise of those new forms of communication. This research will also focus on analyzing whether the social technology is a bias and to what extent. Finally, do consumers love digital advertising on social media? Actually, every new technology requires new languages and, a fortiori, this must happen when the new technology impact is related with the media. In sum, the social media seem to be fertile ground to explore recent changes in communication, and specifically in advertising communication. The findings of the exploratory research can lead to new questions, such as: do communication and advertising change in the same manner? At the same pace? Do they go in the same direction? And to what extent? Does advertising simply have to follow the new communication rules or is it forced to use and invent new forms of communication? This paper will only be able to outline and quickly schematize possible answers to the questions that, indeed, are bound to lead to further considerations and further researches

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Cornelia de Lange syndrome; Genetic disorder; Intragenic duplicationSíndrome de Cornelia de Lange; Trastorno genético; Duplicación intragénicaSíndrome de Cornelia de Lange; Trastorn genètic; Duplicació intragènicaCornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes related to the cohesin complex. Single-nucleotide variations are the best-known genetic cause of CdLS; however, copy number variants (CNVs) clearly underlie a substantial proportion of cases of the syndrome. The NIPBL gene was thought to be the locus within which clinically relevant CNVs contributed to CdLS. However, in the last few years, pathogenic CNVs have been identified in other genes such as HDAC8, RAD21, and SMC1A. Here, we studied an affected girl presenting with a classic CdLS phenotype heterozygous for a de novo ~32 kbp intragenic duplication affecting exon 10 of HDAC8. Molecular analyses revealed an alteration in the physiological splicing that included a 96 bp insertion between exons 9 and 10 of the main transcript of HDAC8. The aberrant transcript was predicted to generate a truncated protein whose accessibility to the active center was restricted, showing reduced ease of substrate entry into the mutated enzyme. Lastly, we conclude that the duplication is responsible for the patient’s phenotype, highlighting the contribution of CNVs as a molecular cause underlying CdLS.This work was supported by the Spanish Ministry of Health-ISCIII Fondo de Investigación Sanitaria (FIS) (Ref. PI19/01860, to F.J.R. and J.P.) and Diputación General de Aragón-FEDER: European Social Fund (Grupo de Referencia B32_17R/B32_20R, to J.P.). A.L.-P. is supported by a “Juan de la Cierva-Incorporación” postdoctoral grant from MICIU (Spanish Ministry of Science and Universities), M.G.-S. is supported by a Predoctoral Fellowship from the Diputación General de Aragón, and C.L.-C. is supported by a Predoctoral Fellowship from the MH-ISCIII. This work was also supported by Spanish government grants RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) and DTS20-00024 (ISCIII) to P.G.-P., as well as funds from the European JPIAMR network “EPIC-Alliance” to P.G.-P. The computational support of the “Centro de Computación Científica CCC-UAM” is gratefully recognized. This work was also partially supported by Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias co-funded with ERDF funds, Grant No. FIS PI20/01767) to A.P. and by Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias co-funded with ERDF funds, Grant No. FIS PI18/000687 to E.F.T

Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness

Purpose: Quality of life (QOL) is a key outcome for people with cerebral palsy (CP), and executive functioning is an important predictor of QOL in other health-related conditions. Little is known about this association in CP or about its neural substrate. We aim to analyze the influence of executive functioning (including cognitive flexibility) as well as that of other psychological, motor, communication and socioeconomic variables on QOL and to identify neuroanatomical areas related to QOL in adolescents and adults with CP. Methods: Fifty subjects diagnosed with dyskinetic CP (mean age 25.96 years) were recruited. Their caregivers completed the primary caregiver proxy report version of the CP QOL-Teen questionnaire. Motor status, communication, IQ, four executive function domains, anxiety/depression and socioeconomic status were evaluated. Correlations and multiple linear regression models were used to relate CP QOL domains and total score to these variables. Thirty-six participants underwent an MRI assessment. Correlations were examined between cortical thickness and CP QOL total score and between cortical thickness and variables that might predict the CP QOL total score. Results: Executive functions predict scores in four domains of CP QOL (General well-being and participation, Communication and physical health, Family health and Feelings about functioning) in the regression model. Among the cognitive domains that comprise executive function, only cognitive flexibility measured in terms of performance on the Wisconsin card sorting test (WCST) predicts the CP QOL total score. Monthly income, fine motor functioning and communication ability predict scores on the domains Access to services and Family Health, Feelings about functioning and School well being, respectively. The clusters resulting from the correlation between cortical thickness and both CP QOL total score and WCST performance overlapped in the posterior cingulate and precuneus cortices. Conclusions: Cognitive flexibility predicts proxy report CP QOL-Teen total score in dyskinetic CP. This relationship has its anatomical correlate in the posterior cingulate and precuneus cortices

Interacció secundària-universitat en l'àmbit de la nutrició i de la ciència i tecnologia alimentària

Presentem un programa pilot dirigit a promoure la interacció entre diferents nivells educatius (batxillerat, CFGS i universitaris) així com per donar a conèixer els graus que es fan al Campus de l'Alimentació de Torribera (UB): Nutrició Humana i Dietètica i Ciència i Tecnologia dels Aliments. El programa es basa en activitats pràctiques per a estudiants de batxillerat i de cicles formatius de grau superior i en activitats adreçades a promoure treballs de recerca en el camp de l'alimentació

Pulmonary intravascular macrophages: Prime suspects as cellular mediators of porcine CARPA

Pigs provide a highly sensitive and quantitative in vivo model for complement (C) activation-related pseudoallergy (CARPA), a hypersensitivity reaction caused by some state-of-art nanomedicines. In an effort to understand the mechanism of the pigs' unique sensitivity for CARPA, this review focuses on pulmonary intravascular macrophages (PIMs), which are abundantly present in the lung of pigs. These cells represent a macrophage subpopulation whose unique qualities explain the characteristic symptoms of CARPA in this species, most importantly the rapidly (within minutes) developing pulmonary vasoconstriction, leading to elevation of pulmonary arterial pressure. The unique qualities of PIM cells include the following; 1) they are strongly adhered to the capillary walls via desmosome-like intercellular adhesion plaques, which secure stable and lasting direct exposition of the bulk of these cells to the blood stream; 2) their ruffled surface engaged in intense phagocytic activity ensures efficient binding and phagocytosis of nanoparticles; 3) PIM cells express anaphylatoxin receptors, this way C activation can trigger these cells, 4) they also express pattern recognition molecules on their surface, whose engagement with certain coated nanoparticles may also activate these cells or act in synergy with anaphylatoxins and, finally 5) their high metabolic activity and capability for immediate secretion of vasoactive mediators upon stimulation explain the circulatory blockage and other robust physiological effects that their stimulation may cause. These qualities taken together with reports on liposome uptake by PIM cells during CARPA and the possible presence of these cells in human lung suggests that PIM cells may be a potential therapeutic target against CARPA. © 2015 by De Gruyter