Inversion variants in human and primate genomes

For many years, inversions have been proposed to be a direct driving force in speciation since they suppress recombination when heterozygous. Inversions are the most common large-scale differences among humans and great apes. Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed a genome-wide comparison between human, great ape, and macaque genomes using the net alignments for the most recent releases of genome assemblies. We identified a total of 156 putative inversions, between 103 kb and 91 Mb, corresponding to 136 human loci. Combining literature, sequence, and experimental analyses, we analyzed 109 of these loci and found 67 regions inverted in one or multiple primates, including 28 newly identified inversions. These events overlap with 81 human genes at their breakpoints, and seven correspond to sites of recurrent rearrangements associated with human disease. This work doubles the number of validated primate inversions larger than 100 kb, beyond what was previously documented. We identified 74 sites of errors, where the sequence has been assembled in the wrong orientation, in the reference genomes analyzed. Our data serve two purposes: First, we generated a map of evolutionary inversions in these genomes representing a resource for interrogating differences among these species at a functional level; second, we provide a list of misassembled regions in these primate genomes, involving over 300 Mb of DNA and 1978 human genes. Accurately annotating these regions in the genome references has immediate applications for evolutionary and biomedical studies on primates

Cross-cultural adaptation and validation of the “spinal cord injury-falls concern scale” in the Italian population

Study design: Psychometrics study. Objective: The objective of this study was to develop an Italian version of the Spinal Cord Injury-Falls Concern Scale (SCI-FCS) and examine its reliability and validity. Setting: Multicenter study in spinal units in Northern and Southern Italy. The scale also was administered to non-hospitalized outpatient clinic patients. Methods: The original scale was translated from English to Italian using the “Translation and Cultural Adaptation of Patient-Reported Outcomes Measures” guidelines. The reliability and validity of the culturally adapted scale were assessed following the “Consensus-Based Standards for the Selection of Health Status Measurement Instruments” checklist. The SCI-FCS-I internal consistency, inter-rater, and intra-rater reliability were examined using Cronbach’s alpha coefficient and the intraclass correlation coefficient, respectively. Concurrent validity was evaluated using Pearson’s correlation coefficient with the Italian version of the short form of the Wheelchair Use Confidence Scale for Manual Wheelchair Users (WheelCon-M-I-short form). Results: The Italian version of the SCI-FCS-I was administered to 124 participants from 1 June to 30 September 2017. The mean ± SD of the SCI-FCS-I score was 16.73 ± 5.88. All SCI-FCS items were either identical or similar in meaning to the original version’s items. Cronbach’s α was 0.827 (p < 0.01), the inter-rater reliability was 0.972 (p < 0.01), and the intra-rater reliability was 0.973 (p < 0.01). Pearson’s correlation coefficient of the SCI-FCS-I scores with the WheelCon-M-I-short form was 0.56 (p < 0.01). Conclusions: The SCI-FCS-I was found to be reliable and a valid outcome measure for assessing manual wheelchair concerns about falling in the Italian population

Global disparities in surgeons’ workloads, academic engagement and rest periods: the on-calL shIft fOr geNEral SurgeonS (LIONESS) study

: The workload of general surgeons is multifaceted, encompassing not only surgical procedures but also a myriad of other responsibilities. From April to May 2023, we conducted a CHERRIES-compliant internet-based survey analyzing clinical practice, academic engagement, and post-on-call rest. The questionnaire featured six sections with 35 questions. Statistical analysis used Chi-square tests, ANOVA, and logistic regression (SPSS® v. 28). The survey received a total of 1.046 responses (65.4%). Over 78.0% of responders came from Europe, 65.1% came from a general surgery unit; 92.8% of European and 87.5% of North American respondents were involved in research, compared to 71.7% in Africa. Europe led in publishing research studies (6.6 ± 8.6 yearly). Teaching involvement was high in North America (100%) and Africa (91.7%). Surgeons reported an average of 6.7 ± 4.9 on-call shifts per month, with European and North American surgeons experiencing 6.5 ± 4.9 and 7.8 ± 4.1 on-calls monthly, respectively. African surgeons had the highest on-call frequency (8.7 ± 6.1). Post-on-call, only 35.1% of respondents received a day off. Europeans were most likely (40%) to have a day off, while African surgeons were least likely (6.7%). On the adjusted multivariable analysis HDI (Human Development Index) (aOR 1.993) hospital capacity &gt; 400 beds (aOR 2.423), working in a specialty surgery unit (aOR 2.087), and making the on-call in-house (aOR 5.446), significantly predicted the likelihood of having a day off after an on-call shift. Our study revealed critical insights into the disparities in workload, access to research, and professional opportunities for surgeons across different continents, underscored by the HDI

Nuestro Espacio, Nuestra Identidad Un aporte comunicacional para incorporar Narrativas Transmedia como estrategias pedagógicas

Trabajo Final para optar al grado académico de Licenciatura en Comunicación Social, Universidad Nacional de Córdoba. Orientación Institucional Calificación 9 (Nueve)Fil: Martina Baldi, Bianca. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Fil: Padilla Calvo, María Valentina. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Fil: Antonacci, Agustín Ezequiel. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Nuestro espacio, nuestra identidad es un Proyecto de Comunicación Social efectuado con el propósito de incorporar las Narrativas Transmedia como estrategias pedagógicas que permitan potenciar los procesos de enseñanza y aprendizaje. El mismo consistió en el diseño, ejecución y evaluación de una propuesta educativa basada en una experiencia transmedia en conjunto con docentes y estudiantes del IPEM N°394 “Juana Manso” de la ciudad de Río Tercero (Córdoba). Este proceso se materializó en una experiencia concreta llevada a cabo durante el año 2021, en el marco de un Proyecto de Aprendizajes Integrados (PAI) de las asignaturas Psicología, Historia y Geografía. Este proyecto, con su carácter exploratorio y descriptivo, implicó un importante trabajo interdisciplinario el cual permitió la producción e implementación de una narrativa transmedia especialmente construida para la finalidad educativa. Por consiguiente, el presente trabajo final de grado narra las etapas de gestión efectuadas para la realización del proyecto.Fil: Martina Baldi, Bianca. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Fil: Padilla Calvo, María Valentina. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Fil: Antonacci, Agustín Ezequiel. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina

Assessing the air quality impact of nitrogen oxides and benzene from road traffic and domestic heating and the associated cancer risk in an urban area of Verona (Italy)

Simulations of emission and dispersion of nitrogen oxides (NOx) are performed in an urban area of Verona (Italy), characterized by street canyons and typical sources of urban pollutants. Two dominant source categories are considered: road traffic and, as an element of novelty, domestic heaters. Also, to assess the impact of urban air pollution on human health and, in particular, the cancer risk, simulations of emission and dispersion of benzene are carried out. Emissions from road traffic are estimated by the COPERT 4 algorithm, whilst NOx emission factors from domestic heaters are retrieved by means of criteria provided in the technical literature. Then maps of the annual mean concentrations of NOx and benzene are calculated using the AUSTAL2000 dispersion model, considering both scenarios representing the current situation, and scenarios simulating the introduction of environmental strategies for air pollution mitigation. The simulations highlight potentially critical situations of human exposure that may not be detected by the conventional network of air quality monitoring stations. The proposed methodology provides a support for air quality policies, such as planning targeted measurement campaigns, re-locating monitoring stations and adopting measures in favour of better air quality in urban planning. In particular, the estimation of the induced cancer risk is an important starting point to conduct zoning analyses and to detect the areas where population is more directly exposed to potential risks for health

ON-Tech: from Roman mortars to green innovative solutions

ON-Tech project is based on the idea to produce modern and green restoration mortars according to the recipe of ancient mortars from the Trajan Aqueduct (Rome, II century AD), which showed high durability and resistance thanks to a synergic combination of raw materials, grain size and production technology. The main objective is to realize eco-friendly restoration mortars, not harmful to humans and compatible with ancient materials, with high performance and minimum CO2 production to make them more effective and sustainable, to preserve cultural heritage for future generations. First, a preliminary characterization of three typologies of Pozzolan materials from the surrounding of Bracciano Lake has been provided by means of optical microscopy (OM), X-ray powder diffraction (XRPD), Fourier-transform infrared spectroscopy (FTIR) and Scanning Electron Microscopy (SEM-EDS). The results showed differences in the matrix, leucite crystals (presence, dimension, typology), amount of phenocrystals (clinopyroxenes and feldspars) and porosity. After the preliminary investigations, the pozzolan materials compatible with ancient samples were chosen for the new formulations, which have been then analyzed from the mineralogical point of view by FTIR and XRPD and non-destructive tests (usb analysis, peeling tests, Karsten tube, sponge test) in order to assess physical and mechanical characteristics and durability of the new products