On natural metalinguistic abilities in aphasia: a preliminary study

Natural metalinguistic abilities, which are put into play without explicit instructions, constitute the cognitive basis for a 'reflexive' use of language, a particular manifestation of the executive function when applied to language and verbal behaviour. This reflexive use entails a specific attentional activity by speakers and hearers with regard to linguistic outputs, and an intentional experience-based control over the language use. Putting into play natural metalinguistic abilities can be considered a significant factor for explaining different kinds of adaptive processes. Our results permit us to conclude that an impairment of metalinguistic abilities is involved in aphasia to different degrees. Moreover, the examination of preserved metalinguistic abilities provides an alternative way for assessing the degree of severity of impaired communicative behaviour by people with aphasia. Our procedure, presumably, will also be useful for suggesting new factors when designing therapeutic programmes

Influence of metal organic chemical vapour deposition growth conditions on vibrational and luminescent properties of ZnO nanorods

Producción CientíficaA detailed optical characterization by means of micro Raman and cathodoluminescence spectroscopy of catalyst-free ZnO nanorods grown by atmospheric-metal organic chemical vapour deposition has been carried out. This characterization has allowed correlating the growth conditions, in particular the precursors partial-pressures and growth time, with the optical properties of nanorods. It has been shown that a high Zn supersaturation can favor the incorporation of nonradiative recombination centers, which can tentatively be associated with ZnI-related defects. Characterization of individual nanorods has evidenced that ZnI-related defects have a tendency to accumulate in the tip part of the nanorods, which present dark cathodoluminescence contrast with respect to the nanorods bottom. The effect of a ZnO buffer layer on the properties of the nanorods has been also investigated, showing that the buffer layer improves the luminescence efficiency of the ZnO nanorods, revealing a significant reduction of the concentration of nonradiative recombination centers.Ministerio de Ciencia e Innovación (Projects MAT2007-66129, MAT-2010-20441-C02, MAT-2010-16116, and TEC2011-28076-C02-02)Generalitat Valenciana (Prometeo/2011-035 and ISIC/2012/008, Institute of Nanotechnologies for Clean Energies

Scalability and cost-effectiveness analysis of whole genome-wide association studies on Google Cloud Platform and Amazon Web Services

Objective Advancements in human genomics have generated a surge of available data, fueling the growth and accessibility of databases for more comprehensive, in-depth genetic studies. Methods We provide a straightforward and innovative methodology to optimize cloud configuration in order to conduct genome-wide association studies. We utilized Spark clusters on both Google Cloud Platform and Amazon Web Services, as well as Hail (http://doi.org/10.5281/zenodo.2646680) for analysis and exploration of genomic variants dataset. Results Comparative evaluation of numerous cloud-based cluster configurations demonstrate a successful and unprecedented compromise between speed and cost for performing genome-wide association studies on 4 distinct whole-genome sequencing datasets. Results are consistent across the 2 cloud providers and could be highly useful for accelerating research in genetics. Conclusions We present a timely piece for one of the most frequently asked questions when moving to the cloud: what is the trade-off between speed and cost

World Health Organization critical priority Escherichia coli clone ST648 in magnificent frigatebird (Fregata magnificens) of an uninhabited insular environment

Antimicrobial resistance is an ancient natural phenomenon increasingly pressured by anthropogenic activities. Escherichia coli has been used as markers of environmental contamination and human-related activity. Seabirds may be bioindicators of clinically relevant bacterial pathogens and their antimicrobial resistance genes, including extended-spectrum-beta-lactamase (ESBL) and/or plasmid-encoded AmpC (pAmpC), in anthropized and remote areas. We evaluated cloacal swabs of 20 wild magnificent frigatebirds (Fregata magnificens) of the Alcatrazes Archipelago, the biggest breeding colony of magnificent frigatebirds in the southern Atlantic and a natural protected area with no history of human occupation, located in the anthropized southeastern Brazilian coast. We characterized a highly virulent multidrug-resistant ST648 (O153:H9) pandemic clone, harboring bla, bla, qnrB, tetB, sul1, sul2, aadA1, aac(3)-VIa and mdfA, and virulence genes characteristic of avian pathogenic (APEC) (hlyF, iroN, iss, iutA, and ompT) and other extraintestinal E. coli (ExPEC) (chuA, kpsMII, and papC). To our knowledge, this is the first report of ST648 E. coli co-producing ESBL and pAmpC in wild birds inhabiting insular environments. We suggest this potentially zoonotic and pathogenic lineage was likely acquired through indirect anthropogenic contamination of the marine environment, ingestion of contaminated seafood, or by intra and/or interspecific contact. Our findings reinforce the role of wild birds as anthropization sentinels in insular environments and the importance of wildlife surveillance studies on pathogens of critical priority classified by the World Health Organization

Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder

[EN] Objective: To identify differences related to sex and define autism spectrum disorder (ASD) comorbidities female-enriched through a comprehensive multi-PheWAS intersection approach on big, real-world data. Although sex difference is a consistent and recognized feature of ASD, additional clinical correlates could help to identify potential disease subgroups, based on sex and age. Materials and Methods: We performed a systematic comorbidity analysis on 1860 groups of comorbidities exploring all spectrum of known disease, in 59 140 individuals (11 440 females) with ASD from 4 age groups. We explored ASD sex differences in 2 independent real-world datasets, across all potential comorbidities by comparing (1) females with ASD vs males with ASD and (2) females with ASD vs females without ASD. Results: We identified 27 different comorbidities that appeared significantly more frequently in females with ASD. The comorbidities were mostly neurological (eg, epilepsy, odds ratio [OR]>1.8, 3-18 years of age), congenital (eg, chromosomal anomalies, OR>2, 3-18 years of age), and mental disorders (eg, intellectual disability, OR>1.7, 6-18 years of age). Novel comorbidities included endocrine metabolic diseases (eg, failure to thrive, OR=2.5, ages 0-2), digestive disorders (gastroesophageal reflux disease: OR=1.7, 6-11 years of age; and constipation: OR>1.6, 3-11 years of age), and sense organs (strabismus: OR>1.8, 3-18 years of age). Discussion: A multi-PheWAS intersection approach on real-world data as presented in this study uniquely contributes to the growing body of research regarding sex-based comorbidity analysis in ASD population. Conclusions: Our findings provide insights into female-enriched ASD comorbidities that are potentially important in diagnosis, as well as the identification of distinct comorbidity patterns influencing anticipatory treatment or referrals.This work has been supported by the National Institutes of Health BD2K grant U54HG007963. JMZ received grants from Stichting de Drie Lichten and Stichting Sophia Kinderziekenhuis Fonds for a research internship at Harvard Medical School.Gutiérrez-Sacristán, A.; Sáez Silvestre, C.; De Niz, C.; Jalali, N.; Desain, TN.; Kumar, R.; Zachariasse, JM.... (2021). Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder. Journal of the American Medical Informatics Association. 29(2):230-238. https://doi.org/10.1093/jamia/ocab14423023829

What Every Reader Should Know About Studies Using Electronic Health Record Data but May Be Afraid to Ask

Coincident with the tsunami of COVID-19-related publications, there has been a surge of studies using real-world data, including those obtained from the electronic health record (EHR). Unfortunately, several of these high-profile publications were retracted because of concerns regarding the soundness and quality of the studies and the EHR data they purported to analyze. These retractions highlight that although a small community of EHR informatics experts can readily identify strengths and flaws in EHR-derived studies, many medical editorial teams and otherwise sophisticated medical readers lack the framework to fully critically appraise these studies. In addition, conventional statistical analyses cannot overcome the need for an understanding of the opportunities and limitations of EHR-derived studies. We distill here from the broader informatics literature six key considerations that are crucial for appraising studies utilizing EHR data: data completeness, data collection and handling (eg, transformation), data type (ie, codified, textual), robustness of methods against EHR variability (within and across institutions, countries, and time), transparency of data and analytic code, and the multidisciplinary approach. These considerations will inform researchers, clinicians, and other stakeholders as to the recommended best practices in reviewing manuscripts, grants, and other outputs from EHR-data derived studies, and thereby promote and foster rigor, quality, and reliability of this rapidly growing field

DNA Replication Fading As Proliferating Cells Advance in Their Commitment to Terminal Differentiation

Terminal differentiation is the process by which cycling cells stop proliferating to start new specific functions. It involves dramatic changes in chromatin organization as well as gene expression. In the present report we used cell flow cytometry and genome wide DNA combing to investigate DNA replication during murine erythroleukemia-induced terminal cell differentiation. The results obtained indicated that the rate of replication fork movement slows down and the inter-origin distance becomes shorter during the precommitment and commitment periods before cells stop proliferating and accumulate in G1. We propose this is a general feature caused by the progressive heterochromatinization that characterizes terminal cell differentiation

Coverage with k-transmitters in the presence of obstacles

For a fixed integer k ≥ 0, a k-transmitter is an omnidirectional wireless transmitter with an infinite broadcast range that is able to penetrate up to k “walls”, represented as line segments in the plane. We develop lower and upper bounds for the number of k-transmitters that are necessary and sufficient to cover a given collection of line segments, polygonal chains and polygons.Postprint (published version

Cost-effectiveness analysis of pemetrexed versus docetaxel in the second-line treatment of non-small cell lung cancer in Spain: results for the non-squamous histology population

BackgroundThe objective of this study was to conduct a cost-effectiveness evaluation of pemetrexed compared to docetaxel in the treatment of advanced or metastatic non-small cell lung cancer (NSCLC) for patients with predominantly non-squamous histology in the Spanish healthcare setting.MethodsA Markov model was designed consisting of stable, responsive, progressive disease and death states. Patients could also experience adverse events as long as they received chemotherapy. Clinical inputs were based on an analysis of a phase III clinical trial that identified a statistically significant improvement in overall survival for non-squamous patients treated with pemetrexed compared with docetaxel. Costs were collected from the Spanish healthcare perspective.ResultsOutcomes of the model included total costs, total quality-adjusted life years (QALYs), total life years gained (LYG) and total progression-free survival (PFS). Mean survival was 1.03 years for the pemetrexed arm and 0.89 years in the docetaxel arm; QALYs were 0.52 compared to 0.42. Per-patient lifetime costs were € 34677 and € 32343, respectively. Incremental cost-effectiveness ratios were € 23967 per QALY gained and € 17225 per LYG.ConclusionsPemetrexed as a second-line treatment option for patients with a predominantly non-squamous histology in NSCLC is a cost-effective alternative to docetaxel according to the € 30000/QALY threshold commonly accepted in Spain