Search

Abstract Background Familiar cardiopathies are genetic disorders that affect the heart. Cardiologists face a significant problem when treating patients suffering from these disorders: most DNA variations are novel (i.e., they have not been classified before). To facilitate the analysis of novel variations, we present CardioGraph, a platform specially designed to support the analysis of novel variations and help determine whether they are relevant for diagnosis. To do this, CardioGraph identifies and annotates the consequence of variations and provides contextual information regarding which heart structures, pathways, and biological processes are potentially affected by those variations. Methods We conducted our work through three steps. First, we define a data model to support the representation of the heterogeneous information. Second, we instantiate this data model to integrate and represent all the genomics knowledge available for familiar cardiopathies. In this step, we consider genomic data sources and the scientific literature. Third, the design and implementation of the CardioGraph platform. A three-tier structure was used: the database, the backend, and the frontend. Results Three main results were obtained: the data model, the knowledge base generated with the instantiation of the data model, and the platform itself. The platform code has been included as supplemental material in this manuscript. Besides, an instance is publicly available in the following link: https://genomics-hub.pros.dsic.upv.es:3090 . Conclusion CardioGraph is a platform that supports the analysis of novel variations. Future work will expand the body of knowledge about familiar cardiopathies and include new information about hotspots, functional studies, and previously reported variations.

Abstract In this work, we present a novel preclinical device utilizing Torsional Wave Elastography (TWE). It comprises a rotational actuator element and a piezoceramic receiver ring circumferentially aligned. Both allow the transmission of shear waves that interact with the tissue before being received. Our main objective is to demonstrate and characterize the reliability, robustness, and accuracy of the device for characterizing the stiffness of elastic materials and soft tissues. Experimental tests are performed using two sets of tissue mimicking phantoms. The first set consists of calibrated CIRS gels with known stiffness value, while the second test uses non-calibrated manufactured phantoms. Our experimental observations show that the proposed device consistently and repeatably quantifies the stiffness of elastic materials with high accuracy. Furthermore, comparison with established techniques demonstrates a very high correlation (> 95%), supporting the potential medical application of this technology. The results obtained pave the way for a cross-sectional study aiming to investigate the correlation between gestational age and cervical elastic properties during pregnancy.

Amyotrophic lateral sclerosis (ALS) is a devastating neuromuscular disease characterized by progressive motor function and muscle mass loss. Despite extensive research in the field, the underlying causes of ALS remain incompletely understood, contributing to the absence of specific diagnostic and prognostic biomarkers and effective therapies. This study investigates the expression of long-non-coding RNAs (lncRNAs) in skeletal muscle as a potential source of biomarkers and therapeutic targets for the disease. The expression profiles of 12 lncRNAs, selected from the literature, were evaluated across different disease stages in tissue and muscle biopsies from the SOD1G93A transgenic mouse model of ALS. Nine out of the 12 lncRNAs were differentially expressed, with Pvt1, H19 and Neat1 showing notable increases in the symptomatic stages of the disease, and suggesting their potential as candidate biomarkers to support diagnosis and key players in muscle pathophysiology in ALS. Furthermore, the progression of Myhas and H19 RNA levels across disease stages correlated with longevity in the SOD1G93A animal model, effectively discriminating between long- and short-term survival individuals, thereby highlighting their potential as prognostic indicators. These findings underscore the involvement of lncRNAs, especially H19 and Myhas, in ALS pathophysiology, offering novel insights for diagnostic, prognostic and therapeutic targets.

Resumen: La tromboembolia de pulmón (TEP), la forma más grave de presentación de la enfermedad tromboembólica venosa (ETV), constituye actualmente un problema sanitario de primer orden, por su elevado impacto en términos de morbimortalidad, costes y consumo de recursos. La mortalidad temprana asociada a la TEP se debe fundamentalmente a inestabilización hemodinámica, agravamiento de enfermedades previas o complicaciones asociadas al tratamiento de la TEP. Más allá de la mortalidad, existen complicaciones relevantes relacionadas con la TEP, como los sangrados asociados a la anticoagulación, las recurrencias ETV y la persistencia de síntomas respiratorios residuales; esta última complicación relacionada con la TEP está caracterizada principalmente por dos entidades, la hipertensión pulmonar tromboembólica crónica y la enfermedad tromboembólica crónica pulmonar. Los relevantes avances científicos realizados en los últimos años han permitido mejorar el manejo tanto diagnóstico como terapéutico de la enfermedad, tal y como se expone en el presente documento mediante una serie de preguntas relevantes sobre la TEP que son respondidas con la mejor evidencia científica actualmente disponible. Abstract: Pulmonary embolism (PE), the most severe form of presentation of venous thromboembolic disease (VTE), currently represents a foremost healthcare issue due to its high impact in terms of morbidity, mortality, costs, and resource consumption. Early mortality associated with PE is primarily due to hemodynamic instability, exacerbation of pre-existing conditions, or major complications of antithrombotic therapies. Beyond the risk of death, there are relevant complications related to PE, such as bleedings, VTE recurrences, and persistence of residual respiratory symptoms; the latter complication related to PE is mainly characterized by two entities, chronic thromboembolic pulmonary hypertension and chronic thromboembolic disease. Significant scientific advances made in recent years have allowed for the improvement of both diagnostic and therapeutic management of the disease, as outlined in this document through a series of relevant issues about PE that are answered with the most up-to-date scientific evidence.

Abstract The aim of the present study was to investigate the variations in individual muscle stiffness across different maturation stages (i.e., peak height velocity [PHV]) in elite youth soccer players and to explore the associations between lower limb muscle stiffness and performance in sprinting (10, 20, and 40 m sprint), maneuverability (9–3-6–3-9 m sprint test), and jumping (countermovement jump [CMJ]). A total of 131 elite youth soccer players aged 12–18 years, volunteered to participate in the study and were divided into pre-PHV (n = 21), mid-PHV (n = 33), and post-PHV (n = 80). Muscle stiffness of the rectus femoris (RF) and biceps femoris (BF) muscles was assessed using a MyotonPRO. Results showed that players in the pre-PHV stage had lower stiffness in the BF and RF muscles compared to mid-PHV (p

Abstract Introduction Hemorrhage is a major cause of preventable trauma deaths, and the ABC approach is widely used during the primary survey. We hypothesize that prioritizing circulation over intubation (CAB) can improve outcomes in patients with exsanguinating injuries. Methods A prospective observational study involving international trauma centers was conducted. Patients with systolic blood pressure below 90 who were intubated within 30 min of arrival were included. Prioritizing circulation (CAB) was defined as delaying intubation until blood products were started, and/or bleeding control was performed before securing the airway. Demographics, clinical data, and outcomes were recorded. Results The study included 278 eligible patients, with 61.5% falling within the “CAB” cohort and 38.5% in the “ABC” cohort. Demographic and disease characteristics, including age, sex, ISS, use of blood products, and other relevant factors, exhibited comparable distributions between the two cohorts. The CAB group had a higher proportion of penetrating injuries and more patients receiving intubation in the operating room. Notably, patients in the CAB group demonstrated higher GCS scores, lower SBP values before intubation but higher after intubation, and a significantly lower incidence of cardiac arrest and post-intubation hypotension. Key outcomes revealed significantly lower 24-hour mortality in the CAB group (11.1% vs. 69.2%), a lower rate of renal failure, and a higher rate of ARDS. Multivariable logistic regression models showed a 91% reduction in the odds of mortality within 24 h and an 89% reduction at 30 days for the CAB cohort compared to the ABC cohort. These findings suggest that prioritizing circulation before intubation is associated with improved outcomes in patients with exsanguinating injuries. Conclusion Post-intubation hypotension is observed to be correlated with worse outcomes. The consideration of prioritizing circulation over intubation in patients with exsanguinating injuries, allowing for resuscitation, or bleeding control, appears to be associated with potential improvements in survival. Emphasizing the importance of circulation and resuscitation is crucial, and this approach might offer benefits for various bleeding-related conditions.

Background: Stroke survivors experience a wide range of physical, cognitive, and emotional challenges. In the MindFit Project, a randomized clinical trial, 141 chronic stroke patients were divided into three groups: mindfulness-based stress reduction (MBSR) with computerized cognitive training (CCT), physical exercise (PE) with CCT, and CCT alone. The interventions were conducted remotely over 12 weeks, including online group and individual sessions. Objective: This exploratory nested qualitative study aimed to investigate chronic stroke survivors’ experiences, opinions, and perceived changes due to the interventions within the MindFit Project. The secondary objective was to describe the broader experience of their recovery journey. Methods: Twenty-seven participants were recruited through purposive sampling and engaged in semi-structured one-on-one interviews. Twelve received MBSR+CCT, nine received PE+CCT, and six received CCT-only. The interviews were recorded, transcribed, and analyzed using thematic analysis. Results: Participants shared insights into their lives after stroke, including emotional and physical challenges, coping mechanisms, and the impact of societal perceptions. The interventions were generally positively valued, with MBSR aiding in emotional regulation, PE enhancing physical capabilities, and CCT improving cognition. The group setting provided valuable peer support and motivation, although some participants noted challenges owing to the heterogeneity. The telematic format was also appreciated for its accessibility, although it posed challenges to personal interaction and intervention supervision. Conclusions: Our study emphasizes the complexity of stroke recovery and the importance of holistic, patient-centered rehabilitation approaches. It also highlights the value of combining physical and non-physical interventions in a group setting, along with the potential of remote platforms to enhance the accessibility of rehabilitation programs. These findings generate hypotheses for future randomized clinical trials aimed at improving post-stroke recovery.

Introduction: A part of the admissions to the intensive care unit are made up of adults in middle age (between 40 and 59 years old). Objectives: Characterize the mature adult admitted to the intensive care unit. Methods: Observational, descriptive and cross-sectional study, in the intensive care unit with a series of 1214 patients. The following were studied: age, sex, type of admission, APACHE II upon admission, mechanical ventilation, length of stay, mortality and direct cause of death. Statistical methods: Frequency distributions, measures of central tendency, chi-square tests and Student's t test; 5 % significance level was stated. Results: The mean age was 50.9 ± 5.3 years. The age group 50-59 years (61.9 %) and the male sex (60.0 %) predominated. 55.3 % were discharged alive. There was a significant difference between the mean ages between those who died and those who were discharged alive (p< 0.0001). Clinical admission was awarded the highest number of admissions (65.0 %). The mean APACHE II value was 14.5 ± 7.6; in the deceased it was higher (20.0 vs. 10.0). 58.5 % of patients did not receive mechanical ventilation. The average stay was 6.6 days, longer in those who died (7.8 vs. 5.6). The main cause of death was severe cerebral edema (22.6 %). Conclusions: The age group 50-59 years predominates, the male sex, the cause of admission was clinical, the APACHE II value = 15 points, the stay = 7 days, requiring MV and being discharged alive; the direct cause of death is intense cerebral edema.

Objectives: Innovative precision dietary procedures are required to promote healthy aging. This study aimed to evaluate the effects of a personalised strategy based on the inclusion of individualised foods and digital tools on overall health status and quality of life within a follow-up of 3 months in older adults with overweight or obesity. Methods: 127 men and women aged between 50 and 80 years with overweight/obesity participated in the study—between January 2020 and September 2020 at the Center for Nutrition Research-University of Navarra and IMDEA-ALIMENTACIÓN—and were randomly assigned to a usual-care group (standard recommendations) or precision group (precision nutrition strategy based on the inclusion of individualised foods and a mobile application). Anthropometry, body fat percentage, biochemical parameters, diet, and quality of life (SF-36 Health Survey) were assessed at baseline and after 3 months. Results: Both strategies were found to improve overall metabolic health; however, the precision approach demonstrated significantly better outcomes. The precision strategy reduced body weight at 3 months (−4.3 kg; p

Summary: Background: The clinical relevance of recurrent venous thromboembolism (VTE) after discontinuing anticoagulation in patients with COVID-19-associated VTE remains uncertain. We estimated the incidence rates and mortality of VTE recurrences developing after discontinuing anticoagulation in patients with COVID-19-associated VTE. Methods: A prospective, multicenter, non-interventional study was conducted between March 25, 2020, and July 26, 2023, including patients who had discontinued anticoagulation after at least 3 months of therapy. All patients from the registry were analyzed during the study period to verify inclusion criteria. Patients with superficial vein thrombosis, those who did not receive at least 3 months of anticoagulant therapy, and those who were followed for less than 15 days after discontinuing anticoagulation were excluded. Outcomes were: 1) Incidence rates of symptomatic VTE recurrences, and 2) fatal PE. The rate of VTE recurrences was defined as the number of patients with recurrent VTE divided by the patient-years at risk of recurrent VTE during the period when anticoagulation was discontinued. Findings: Among 1106 patients with COVID-19-associated VTE (age 62.3 ± 14.4 years; 62.9% male) followed-up for 12.5 months (p25-75, 6.3–20.1) after discontinuing anticoagulation, there were 38 VTE recurrences (3.5%, 95% confidence interval [CI]: 2.5–4.7%), with a rate of 3.1 per 100 patient-years (95% CI: 2.2–4.2). No patient died of recurrent PE (0%, 95% CI: 0–7.6%). Subgroup analyses showed that patients with diagnosis in 2021–2022 (vs. 2020) (Hazard ratio [HR] 2.86; 95% CI 1.45–5.68) or those with isolated deep vein thrombosis (vs. pulmonary embolism) (HR 2.31; 95% CI 1.19–4.49) had significantly higher rates of VTE recurrences. Interpretation: In patients with COVID-19-associated VTE who discontinued anticoagulation after at least 3 months of treatment, the incidence rate of recurrent VTE and the case-fatality rate was low. Therefore, it conceivable that long-term anticoagulation may not be required for many patients with COVID-19-associated VTE, although further research is needed to confirm these findings. Funding: Sanofi and Rovi, Sanofi Spain.

Multi-host communities are perfect scenarios for the emergence and spread of pathogens, threatening the recovery of endangered, isolated, or inbred populations, such as the brown bear (Ursus arctos) in northwestern Spain. The population recovery in recent years has forced bears to occupy highly anthropized areas, increasing their interaction with human and domestic animals, with potential consequences for global health. During 2022–2023 a survey of parasites, bacteria and viruses shared between wildlife, domestic animals and humans was performed in this population using non-invasive surveillance, i.e., bear fecal samples (n = 73) and sponge-based sampling of trees (n = 42; 14 rubbed trees and 28 control trees). Pathogen detection rates were defined as the percentage of qPCR or culture-positive samples. Generalized linear models were fitted to assess their relationship with environmental variables including dispersion of the human population, and percentage of agricultural and periurban habitats in a 6 km-buffer around each sample. Canine Adenovirus type 1 (45.2%), Giardia spp. (15.1%), Salmonella spp. (12.3%), and extended-spectrum-beta-lactamases (ESBL) Escherichia coli (1.4%) were identified in fecal samples. In contrast, only five sponges from three rubbed and two control trees resulted positive to E. coli (14.3%). The results suggest that several pathogens are common in the Cantabrian brown bear population and that anthropization of the territory modulates their prevalence and richness.The effective design of management programs for bear conservation will require a one-health approach, in which genetic analysis of non-invasive samples can be key tools for the sanitary surveillance at the wildlife-livestock-human interface.

Abstract Background Diabetic peripheral neuropathy (DPN) is the most common complication of type 2 diabetes mellitus (T2DM); its diagnosis and treatment are based on symptomatic improvement. However, as pharmacological therapy causes multiple adverse effects, the implementation of acupunctural techniques, such as electroacupuncture (EA) has been suggested as an alternative treatment. Nonetheless, there is a lack of scientific evidence, and its mechanisms are still unclear. We present the design and methodology of a new clinical randomized trial, that investigates the effectiveness of EA for the treatment of DPN. Methods This study is a four-armed, randomized, controlled, multicenter clinical trial (20-week intervention period, plus 12 weeks of follow-up after concluding intervention). A total of 48 T2DM patients with clinical signs and symptoms of DPN; and electrophysiological signs in the Nerve Conduction Study (NCS); will be treated by acupuncture specialists in outpatient units in Mexico City. Patients will be randomized in a 1:1 ratio to one of the following four groups: (a) short fibre DPN with EA, (b) short fibre DPN with sham EA, (c) axonal DPN with EA and (d) axonal DPN with sham EA treatment. The intervention will consist of 32 sessions, 20 min each, per patient over two cycles of intervention of 8 weeks each and a mid-term rest period of 4 weeks. The primary outcome will be NCS parameters, and secondary outcomes will include DPN-related symptoms and pain by Michigan Neuropathy Screening Instrument (MNSI), Michigan Diabetic Neuropathy Score (MDNS), Dolour Neuropatique Score (DN-4), Semmes-Westein monofilament, Numerical Rating Scale (NRS) for pain assessment, and the 36-item Short Form Health Survey (SF-36). To measure quality of life and improve oxidative stress, the inflammatory response; and genetic expression; will be analysed at the beginning and at the end of treatment. Discussion This study will be conducted to compare the efficacy of EA versus sham EA combined with conventional diabetic and neuropathic treatments if needed. EA may improve NCS, neuropathic pain and symptoms, oxidative stress, inflammatory response, and genetic expression, and it could be considered a potential coadjutant treatment for the management of DPN with a possible remyelinating effect. Trial registration ClinicalTrials.gov. NCT05521737 Registered on 30 August 2022. International Clinical Trials Registry Platform (ICTRP) ISRCTN97391213 Registered on 26 September 2022 [2b].

Abstract Understanding mortality causes is important for the conservation of endangered species, especially in small and isolated populations inhabiting anthropized landscapes where both natural and human-caused mortality may hinder the conservation of these species. We investigated the mortality causes of 53 free-ranging brown bears (Ursus arctos) found dead between 1998 and 2023 in the Cantabrian Mountains (northwestern Spain), a highly human-modified region where bears are currently recovering after being critically threatened in the last century. We detected natural traumatic injuries in 52.63% and infectious diseases in 39.47% of the 38 bears for which the mortality causes were registered, with 21.05% of these cases presenting signs of both infectious diseases and traumas. More specifically, almost 30% of the bears died during or after intraspecific fights, including sexually selected infanticide (10.53%). In addition, primary infectious diseases such as infectious canine hepatitis, distemper, clostridiosis and colibacillosis caused the death of 15.79% of the bears. The number of direct human-caused deaths (i.e., shooting, poisoning, snare) decreased over the study period. This study also reveals three new mortality causes triggered by pathogens, two of which—Clostridium novyi and verotoxigenic Escherichia coli—not previously described in ursids, and the other one, canine distemper virus, never reported in brown bears as cause of death. New management strategies for the conservation of Cantabrian bears, which are urgently needed due to the rapid expansion of the population, should consider the mortality causes described in this study and must promote further research to elucidate how the high prevalence of infectious diseases may threaten the current recovery of the population.

La enseñanza-aprendizaje de la Física en la Educación de Adultos presenta insuficiencias relacionadas con el aprendizaje de los contenidos y su aplicación en la solución de problemas de la ciencia, la tecnología y el entorno de los estudiantes en general. Esto provoca una contradicción con las exigencias actuales que la sociedad demanda a la Educación cubana en el contexto del III perfeccionamiento. El objetivo de esta investigación es proponer un procedimiento general para seleccionar los contenidos interdisciplinarios que sustentan la elaboración de una metodología para favorecer la enseñanza aprendizaje de la Física de la Educación de Adultos. Desde un enfoque mixto de la investigación se utilizaron métodos tales como: histórico-lógico, analítico-sintético, inductivo-deductivo, modelación, sistémico, observación a clases, estudio de documentos, encuestas, entrevistas, prueba pedagógica y el pre-experimento. Como resultado se determinaron los procedimientos que permiten seleccionar los contenidos interdisciplinarios para la enseñanza-aprendizaje de la Física en la Educación de Adultos.

Abstract Background Porcine circovirus 2 (PCV-2) poses a significant economic threat for the swine industry, causing a range of diseases collectively referred to as porcine circovirus diseases (PCVDs). Despite PCV-2 vaccine effectiveness, the need for monitoring infectious pressure remains. PCV-2 coinfection with other pathogens like porcine reproductive and respiratory syndrome virus (PRRSV) can exacerbate disease severity and lead to PCV-2-systemic disease cases. Monitoring both PRRSV and PCV-2 in co-infected farms is crucial for an effective management and vaccination programs. The present cross-sectional study aimed to determine PCV-2 antibody levels in piglets at weaning and PCV-2 and PRRSV viremia in pooled serum samples at weaning (vaccination age) and at 6 and 9 weeks of age from a Spanish swine integration system in 2020 (48 farms) and in 2022 (28 out of the 48 analysed previously). Results The frequency of PCV-2 detection in pools of piglet sera was 2.1% (2020) and 7.1% (2022) at vaccination age but increased at the end of the nursery period (10.4% in 2020 and 39.3% in 2022) in both years. Co-infections between PCV-2 and PRRSV were detected in a significant proportion of PRRSV positive farms (15% in 2020, and 60% in 2022). PCV-2 antibody levels (ELISA S/P ratios) at weaning were lower in PCV-2 qPCR positive farms at different sampling time-points (0.361 in 2020 and 0.378 in 2022) compared to PCV-2 qPCR negative ones (0.587 in 2020 and 0.541 in 2022). The 28 farms tested both years were classified in four different epidemiological scenarios depending on their PCV-2 virological status. Those PCV-2 qPCR negative farms in 2020 that turned to be positive in 2022 had a statistically significant increase of PRRSV RT-qPCR detection and a PCV-2 antibody levels reduction, facts that were not observed in the rest of the scenarios. Conclusion This epidemiological study in farms from the same integration system determined the occurrence, in 2020 and in 2022, of PCV-2 and PRRSV infections in piglets during the nursery period by using pooled serum samples.

Drug-induced liver injury (DILI) poses a complex and heterogeneous clinical challenge, which often resembles non-drug related acute or chronic liver diseases, such as metabolic dysfunction-associated steatotic liver disease (MASLD). Furthermore, certain drugs can induce hepatic steatosis, which is considered a rare variant of hepatotoxicity. Additionally, the detection and diagnosis of DILI in patients with non-alcoholic liver disease present additional challenges that require attention. The importance of achieving an accurate diagnosis is highlighted by the different therapeutic approaches needed for each of these diseases. Nonetheless, as definitive diagnostic tests and distinct biomarkers often remain elusive, the differential diagnosis must rely on a combination of clinical, biochemical, histological, and immunophenotypic profiling. The diagnosis of hepatotoxicity is predicated upon the temporal nexus between the administration of a potentially hepatotoxic drug and the onset of hepatic injury, concomitantly excluding alternative hepatic pathologies. More frequently, this condition presents an acute course, with a more pronounced elevation of cytolytic and cholestatic parameters as compared to fatty liver disease. Advances in elucidating the underlying mechanisms hold promise for bolstering the diagnosis and management of these conditions. This article aims to thoroughly examine and emphasize the currently available scientific evidence to provide valuable insights into the diagnostic strategies for DILI, metabolic-associated liver disease, and drug-induced steatosis (DIS).

La configuración de la esfera Tricontinental a partir de la Conferencia Tricontinental de La Habana constituyó un hito de las relaciones internacionales en el marco de la Guerra Fría. La España franquista fue uno de los países presentados ante el Tercer Mundo a través de esta emergente corriente de solidaridad internacional. La Tricontinental difundió múltiples relatos en torno al franquismo, la República y la Guerra civil española en todo el mundo desde finales de la década de 1960. En este sentido, la influencia de esta corriente se hizo sentir también en el interior de la propia España a través de numerosos movimientos políticos durante la segunda mitad del siglo XX.

Reseña sobre el libro :de los Ríos, Juan B. Alfonseca Giner. (2022). La formación del Estado docente en República Dominicana (1844-1944). Editorial Universitaria Bonó.

Abstract Background Genomics-based clinical diagnosis has emerged as a novel medical approach to improve diagnosis and treatment. However, advances in sequencing techniques have increased the generation of genomics data dramatically. This has led to several data management problems, one of which is data dispersion (i.e., genomics data is scattered across hundreds of data repositories). In this context, geneticists try to remediate the above-mentioned problem by limiting the scope of their work to a single data source they know and trust. This work has studied the consequences of focusing on a single data source rather than considering the many different existing genomics data sources. Methods The analysis is based on the data associated with two groups of disorders (i.e., oncology and cardiology) accessible from six well-known genomic data sources (i.e., ClinVar, Ensembl, GWAS Catalog, LOVD, CIViC, and CardioDB). Two dimensions have been considered in this analysis, namely, completeness and concordance. Completeness has been evaluated at two levels. First, by analyzing the information provided by each data source with regard to a conceptual schema data model (i.e., the schema level). Second, by analyzing the DNA variations provided by each data source as related to any of the disorders selected (i.e., the data level). Concordance has been evaluated by comparing the consensus among the data sources regarding the clinical relevance of each variation and disorder. Results The data sources with the highest completeness at the schema level are ClinVar, Ensembl, and CIViC. ClinVar has the highest completeness at the data level data source for the oncology and cardiology disorders. However, there are clinically relevant variations that are exclusive to other data sources, and they must be considered in order to provide the best clinical diagnosis. Although the information available in the data sources is predominantly concordant, discordance among the analyzed data exist. This can lead to inaccurate diagnoses. Conclusion Precision medicine analyses using a single genomics data source leads to incomplete results. Also, there are concordance problems that threaten the correctness of the genomics-based diagnosis results.

Background: A circadian rhythm of myocardial infarction has been described but there is little data on its relation with seasons and months. Methods: From June 2013 to June 2018, we analyzed the alerts for acute ST-segment elevation myocardial infarction (STEMI) in a Spanish region with 6.64 million inhabitants, universal health coverage, and an organized STEMI reperfusion network. We selected those patients which an identifiable culprit plaque. Results: We recruited 6765 cases of STEMI due to type I acute myocardial infarction (type-I AMI), with mean age of 63.2 years (range 17–101, standard deviation [SD] 13.7), 5238 were males (77.4%) and 2801 (41.9%) were 65 years or older. The hourly distribution followed a fixed pattern in all months, with most of the events occurring between 6:00 AM and 4:00 PM, a peak at approximately 01:00 PM and a valley between 10:00 PM and 06:00 AM. No significant difference was found when comparing the mean time to first medical contact between July (the month with more daylight hours) and December (the month with shortest days). No significant differences were found between male and female patients, or between patients aged 65 years or older and younger patients. There was a close correlation between the number of events per month and the number of events occurring during the day (6 AM to 6 PM, r = 0.988, p = 0.001) and during the night (6 PM to 6 AM, r = 0.944, p < 0.001), with different slopes of the regression lines (t-test, p < 0.001), so that the difference between day-night occurrences increased with the total incidence. Conclusions: There is a circadian pattern in the presentation of STEMI that is not influenced by sex and age. The different incidence of STEMI at different times of the year does not affect the circadian pattern in terms of the shape of the curve or the mean time of presentation, although diurnal events increase more than nocturnal events, suggesting that triggers are most likely to act during vulnerable periods as determined by a circadian-based rhythm.

Hardwoods are complex heterogeneous and orthotropic structures that have evolved to the present day, adapting to successive climate episodes to prosper on Earth. Attributing a specific functionality to individual hardwood elements is difficult because of their interconnection in this heterogeneous three-dimensional network. However, tree physiology research is helping to enhance knowledge in this field. This work is a short review of the possible functionalities of hardwood elements, in some cases supported by experimentation and in others by comparative anatomy. It is intended for students or researchers starting out in the world of hardwood anatomy to aid their understanding of the functionality of hardwood elements.

Depending on the phase of the menstrual cycle, different values of running kinematic variables can be obtained. The aim of this study is to analyze whether there are changes in the kinematic variables in running throughout the menstrual cycle and to relate them to running performance and injury prevention. Eight regular female runners and triathletes performed a maximal treadmill test, as well as a submaximal test (6′ stages at 50%, 60% and 80% of maximal aerobic speed) in each of the phases of the menstrual cycle: menstruation phase (day 2.4 ± 0.7), follicular phase (day 10.4 ± 2.2) and luteal phase (day 21.8 ± 2.1). Running dynamics were measured using RunScribe. For parametric data, a general linear model of repeated measures was applied, with two intrasubject independent variables, menstrual cycle phases (with three levels: Menstruation, Follicular, and Luteal) and running intensity (with four levels relative to the maximum speed reached in the test: 100%, 80%, 60%, and 50%). For variables with non-normal distributions, Friedman tests were performed with Wilcoxon post-tests adjusted for significance according to Bonferroni. The maximum stance velocity from foot strike to the point of maximum pronation (°/s) was higher in the menstruation phase than in the follicular and luteal phases (p = 0.008), the step rate (s/min) was higher in the follicular phase than in the menstruation and luteal phases (p = 0.049), the vertical velocity (m/s) was lower in the follicular phase than in the menstruation (p = 0.004) and luteal phases (p = 0.003), and the contact time (ms) was lower in the luteal phase than in the menstruation and follicular phases. These results suggest that training at high intensities could be a factor in greater risk of injury in female athletes, especially in the menstruation phase, finding in the luteal phase and at an intensity of 80% a greater efficiency in the running.

IntroductionWorkplace Mental health promotion in healthcare sector, is a global priority due to the stress associated with caregiving environments and the increase of mental health problems among health professionals and students. The role of emotional intelligence (EI) and sense of coherence (SOC) have been identified as critical health protectors. However, the relationship between them as well as the underlying mechanisms of these relationships on health benefits in this population is still unclear.AimTo synthetize the existing literature on the relationship between emotional intelligence and sense of coherence, as well as their mutual impact on healthcare workers’ and student’s well-being.MethodA scoping review was conducted following the Joanna Briggs Institute guidelines. A systematic search was conducted in PsyCINFO, CINHAL, SCOPUS and PUBMED databases, using key-terms such as students, health professionals, emotional intelligence, and sense of coherence.ResultsA total of 11 articles were included, with a range of years from 2014 to 2022. Evidence was found to support the positive relationship between sense of coherence and emotional intelligence. The use of EI as a training pathway to improve SOC and health promoting behaviors is suggested. The benefits of intervening on these factors contribute to improved health professionals’ and students’ general well-being and motivation for a better performance, either in their studies or clinical work.ConclusionThe positive relationship between emotional intelligence and a sense of coherence has direct and indirect benefits on students’ and healthcare professionals’ well-being. Future studies should address longitudinal and experimental analysis to confirm these findings.

IntroductionDigital solutions for cognitive assessment are currently not only widely used in experimental contexts but can also be useful in clinical practice for efficient screening and longitudinal follow-up. The “Guttmann Cognitest”®, which includes seven computerized tasks designed to assess main cognitive functions, revealed in a previous validation study to be a potential useful tool to assess cognitive functioning in healthy middle-aged adults.MethodHere, we present results from a validation in two different populations: one consisting of older adults, and the other comprising young and middle-aged individuals, some of them affected by acquired brain injury. To perform a convergent validity test, older adults were also administered with the MOCA, while young and middle-aged individuals were administered with a short neuropsychological assessment including gold-standard neuropsychological tests. We also conducted sensitivity and specificity analysis to establish the utility of this instrument in identifying potential cognitive dysfunctions in the two groups.ResultsResults demonstrated strong convergent validity as well as good specificity and sensitivity characteristics.DiscussionThis tool is a valid and useful instrument to assess cognitive functioning and detecting potential cases of cognitive dysfunctions in older adults and clinical populations.

BackgroundAgeing entails changes in complex cognitive functions that lead to a decrease in autonomy and quality of life. Everyday cognition is the ability to solve cognitively complex problems in the everyday world, enabling instrumental activities of life. Benefits have been found in studies using everyday cognition-based assessment and intervention, as the results predict improvements in everyday performance, not just in specific cognitive functions. A study protocol is presented based on assessment and training in everyday cognition versus traditional cognitive stimulation for the improvement of functionality, emotional state, frailty and cognitive function.MethodsA parallel randomised controlled clinical trial with two arms will be conducted. It will be carried out by the University of Salamanca (Spain) in eleven centres and associations for the elderly of the City Council of Salamanca. People aged 60 years or older without cognitive impairment will be recruited. Participants will be randomly distributed into two groups: the experimental group will undergo a training programme in everyday cognition and the control group a programme of traditional cognitive stimulation, completing 25 sessions over 7 months. All participants will be assessed at the beginning and at the end of the intervention, where socio-demographic data and the following scales will be collected: The Medical Outcomes Study (MOS), Questionnaire ARMS-e, Everyday Cognition Test (PECC), Scale Yesavage, Test Montreal Cognitive Assessment (MoCA), The Functional Independence Measure (FIM), Fragility Index and Lawton y Brody Scale.DiscussionThe present study aims to improve conventional clinical practice on cognitive function training by proposing a specific assessment and intervention of everyday cognition based on the importance of actual cognitive functioning during the resolution of complex tasks of daily life, giving priority to the improvement of autonomy.Trial registrationClinicalTrials.gov; ID: NCT05688163. Registered on: January 18, 2023.

Introducción. El objetivo del estudio fue analizar el impacto del uso de la tomografía corporal total en la evaluación de los pacientes con trauma penetrante por proyectil de arma de fuego y hemodinámicamente inestables atendidos en un centro de referencia de trauma. Métodos. Se realizó un estudio analítico, retrospectivo, con base en un subanálisis del registro de la Sociedad Panamericana de Trauma – Fundación Valle del Lili. Se incluyeron los pacientes con trauma penetrante por proyectil de arma de fuego atendidos entre 2018 y 2021. Se excluyeron los pacientes con trauma craneoencefálico severo, trauma leve y en condición in extremis. Resultados. Doscientos pacientes cumplieron los criterios de elegibilidad, 115 fueron estudiados con tomografía corporal total y se compararon con 85 controles. La mortalidad intrahospitalaria en el grupo de tomografía fue de 4/115 (3,5 %) vs 10/85 (12 %) en el grupo control. En el análisis multivariado se identificó que la tomografía no tenía asociación significativa con la mortalidad (aOR=0,46; IC95% 0,10-1,94). El grupo de tomografía tuvo una reducción relativa del 39 % en la frecuencia de cirugías mayores, con un efecto asociado en la disminución de la necesidad de cirugía (aOR=0,47; IC95% 0,22-0,98). Conclusiones. La tomografía corporal total fue empleada en el abordaje inicial de los pacientes con trauma penetrante por proyectil de arma de fuego y hemodinámicamente inestables. Su uso no se asoció con una mayor mortalidad, pero sí con una menor frecuencia de cirugías mayores.

Introducción. Se describe la utilidad del umbral crítico de administración (CAT por su denominación en inglés) como herramienta para la reanimación hemostática en pacientes con trauma severo y oclusión endovascular aórtica. Métodos. Revisión retrospectiva de pacientes adultos con hemorragia por trauma, con o sin oclusión endovascular aórtica (REBOA), atendidos entre enero de 2015 y junio de 2020, en un centro de trauma nivel I en Cali, Colombia. Se registraron variables demográficas, severidad del trauma, estado clínico, requerimiento transfusional, tiempo hasta CAT+ y CAT alcanzado (1, 2 ó 3). Resultados. Se incluyeron 93 pacientes, se utilizó REBOA en 36 y manejo tradicional en 57. El grupo REBOA presentó mayor volumen de sangrado (mediana de 3000 ml, RIC: 1950-3625 ml) frente al grupo control (mediana de1500 ml, RIC: 700-2975ml) (p

Although friendship networks have been extensively studied, few models and studies are available to understand the reciprocity of friendship and foes. Here a model is presented to explain the directed friendship and foes network formation observed in experiments of Mexican and Hungarian schools. Within the presented model, each agent has a private opinion and a public one that shares to the group. There are two kinds of interactions between agents. The first kind represent interactions with the neighbors while the other represents the attitude of an agent to the overall public available information. Links between agents evolve as a combination of the public and private information available. Friendship is defined using a fitness function according to the strength of the agent's bonds, clustering coefficient, betweenness centrality and degree. Enmity is defined as very negative links. The model allows us to reproduce the distribution of mentions for friends and foes observed in the experiments, as well as the topology of the directed networks.

Background As the world population continues to age, the prevalence of neurological diseases, such as dementia, poses a significant challenge to society. Detecting cognitive impairment at an early stage is vital in preserving and enhancing cognitive function. Digital tools, particularly mHealth, offer a practical solution for large-scale population screening and prompt follow-up assessments of cognitive function, thus overcoming economic and time limitations. Objective In this work, two versions of a digital solution called Guttmann Cognitest ® were tested. Methods Two hundred and one middle-aged adults used the first version (Group A), while 132 used the second one, which included improved tutorials and practice screens (Group B). This second version was also validated in an older age group (Group C). Results This digital solution was found to be highly satisfactory in terms of usability and feasibility, with good acceptability among all three groups. Specifically for Group B, the system usability scale score obtained classifies the solution as the best imaginable in terms of usability. Conclusions Guttmann Cognitest ® has been shown to be effective and well-perceived, with a high potential for sustained engagement in tracking changes in cognitive function.

Introducción: Se considera población adulta joven a los grupos etarios hasta 35 años de edad, otros señalan la edad comprendida entre los 20 y 40 años. Objetivos: Determinar la mortalidad y morbilidad del adulto joven ingresado en la unidad de cuidados intensivos. Métodos: Estudio observacional, descriptivo, transversal en una serie de 623 pacientes. Las variables estudiadas fueron: edad, sexo, tipo de ingreso, APACHE II al ingreso, ventilación mecánica, estadía, mortalidad y causa directa de muerte. Los métodos estadísticos utilizados fueron las distribuciones de frecuencias, medidas de tendencia central, y las pruebas inferenciales ji cuadrado y t de Student. Se consideró como nivel de significación el 5 %. Resultados: Predominó el grupo de edad 19-29 años (53,9 %) y el sexo masculino (64,7 %). La razón sexo masculino/femenino fue de 1,8:1,0. Egresaron vivos el 75,9 % de los pacientes. El ingreso de tipo clínico se adjudicó el mayor número de pacientes (45,1 %). La media del valor del APACHE II fue superior en los fallecidos (18,9 vs. 7,6). No recibieron ventilación mecánica el 54,1 % de los pacientes. La estadía media fue más prolongada en los fallecidos (10,5 vs. 6,5 días) y la principal causa de muerte fue la bronconeumonía bacteriana (22,2 %). Conclusiones: Los adultos jóvenes en cuidados intensivos es más probable que evolucionen de forma satisfactoria y egresen vivos. La principal causa de muerte es la bronconeumonía bacteriana.

Es imprescindible que los estudiantes de Marxismo Leninismo e Historia cuenten con un adecuado desarrollo del pensamiento histórico como plataforma de su educación política ideológica. Sin embargo, resulta insatisfactorio el interés de los estudiantes por los asuntos políticos nacionales e internacionales y la no identificación de la connotación que los hechos políticos tienen para sus vidas como ciudadanos y para la sobrevivencia de la nación cubana. El artículo tiene como objetivo justificar la existencia de un problema científico referido a la relación entre el pensamiento histórico y la educación política ideológica del estudiante de Marxismo Leninismo e Historia. Se ha recurrido a la técnica del análisis documental y a los métodos de grupos de discusión, análisis de contenido y observación. Se logró como resultado el diseño teórico de una investigación aplicada que pretende proponer soluciones a las insatisfacciones antes señaladas.

In virology, the term reverse genetics refers to a set of methodologies in which changes are introduced into the viral genome and their effects on the generation of infectious viral progeny and their phenotypic features are assessed. Reverse genetics emerged thanks to advances in recombinant DNA technology, which made the isolation, cloning, and modification of genes through mutagenesis possible. Most virus reverse genetics studies depend on our capacity to rescue an infectious wild-type virus progeny from cell cultures transfected with an “infectious clone”. This infectious clone generally consists of a circular DNA plasmid containing a functional copy of the full-length viral genome, under the control of an appropriate polymerase promoter. For most DNA viruses, reverse genetics systems are very straightforward since DNA virus genomes are relatively easy to handle and modify and are also (with few notable exceptions) infectious per se. This is not true for RNA viruses, whose genomes need to be reverse-transcribed into cDNA before any modification can be performed. Establishing reverse genetics systems for members of the Caliciviridae has proven exceptionally challenging due to the low number of members of this family that propagate in cell culture. Despite the early successful rescue of calicivirus from a genome-length cDNA more than two decades ago, reverse genetics methods are not routine procedures that can be easily extrapolated to other members of the family. Reports of calicivirus reverse genetics systems have been few and far between. In this review, we discuss the main pitfalls, failures, and delays behind the generation of several successful calicivirus infectious clones.

Two cohorts of Atlantic bluefin tuna (Thunnus thynnus) larvae were sampled in 2017 and 2018 during the peak of spawning in the Gulf of Mexico (GOM). We examined environmental variables, daily growth, otolith biometry and stable isotopes and found that the GOM18 cohort grew at faster rates, with larger and wider otoliths. Inter and intra-population analyses (deficient vs. optimal growth groups) were carried out for pre- and post-flexion developmental stages to determine maternal and trophodynamic influences on larval growth variability based on larval isotopic signatures, trophic niche sizes and their overlaps. For the pre-flexion stages in both years, the optimal growth groups had significantly lower δ15N, implying a direct relationship between growth potential and maternal inheritance. Optimal growth groups and stages for both years showed lower C:N ratios, reflecting a greater energy investment in growth. The results of this study illustrate the interannual transgenerational trophic plasticity of a spawning stock and its linkages to growth potential of their offsprings in the GOM.

Introduction: In Cuba, cerebrovascular diseases (CVD) are very common non-communicable chronic conditions. Objectives: Characterize patients from intensive care unit with a pathological diagnosis of CVD. Methods: Observational, descriptive and transversal study in a sample of 176 patients. Variables: Age (19-39 years, 40-59 years, 60-100 years), sex, type of CVD (hemorrhagic, ischemic), APACHE II scale (= 15, > 15 score) and Glasgow coma on admission (= 8, > 8 score), mechanical ventilation (yes, no), length of stay (= 7, > 7 days) and direct cause of death. Frequencies, measures of central tendency, chi-square and Student's t tests (significance level of 5%) were calculated. Results: Hemorrhagic cerebrovascular disease, male sex (52.8%) and the age group of 60-100 years (64.8%) predominated. The mean age was 63.8 years. The average value of the APACHE II and Glasgow scales was 21.6 and 6.5. 97.6% received mechanical ventilation. The mean stay was 7.0 days. Severe cerebral edema was the main cause of direct death (79.3%). Conclusions: There is a predominance of hemorrhagic CVD, in male patients, aged 60-100 years, APACHE II score > 15, Glasgow score = 8, ventilated patients, stay = 7 days and intense cerebral edema.

Atlantic bluefin tuna (ABT), Thunnus thynnus, is a globally important fishery resource. This oceanic top predator undertakes long-distance migrations from its nutrient-rich feeding grounds in the north Atlantic to oligotrophic spawning grounds. Larvae are born mainly in the corresponding ecosystems of its two well-established spawning areas: the Gulf of Mexico (GoM) and the Mediterranean Sea (MED). Stable isotopes analyses (SIA) of δ15N and δ13C have proven useful for understanding marine food webs and have evaluated larval ABT signatures in their respective spawning areas. This study is among the first to use larvae collected during the same spawning season (2014) from the GoM and one of the main spawning areas within the MED (the Balearic Sea) to standardize methodologies, compare larval growth, and relate SIA with larval postflexion growth using GAMs for the two spawning areas. The main findings identify significant population differences, with comparatively faster growth in GoM larvae. The GoM population had larger otoliths with wider increments, as well as higher δ15N values and higher trophic position for postflexion stages. Collectively, these findings highlight the importance of not only developing well-calibrated growth curves, but also integrating the distinct early life history dynamics for each spawning area to properly support ABT’s ongoing management efforts.

Resumen: Introducción: el estudio de la anatomía humana basado en la disección de cadáveres ha sido uno de los recursos más utilizados históricamente; sin embargo, la brecha generacional entre el alumnado y el profesorado plantea la búsqueda de nuevas metodologías docentes para el estudio práctico de la anatomía humana, para sustituir las prácticas de disección humana. Material y métodos: se planteó un cuestionario de respuesta voluntaria a los 360 alumnos matriculados en alguna de las asignaturas de anatomía humana del grado en Medicina de la Universidad de Zaragoza para conocer la percepción de estos en las prácticas con cadáveres humanos. Resultados: el cuestionario fue respondido por el 69,1% del alumnado (235/360), de los cuales el 74,5% eran mujeres (268/360) y el 25,5% hombres (92/360), con edades comprendidas entre los 18 y 20 años en el 85% (306/360) y superiores en el 15% restante (54/360). Las primeras sensaciones del alumno a estas prácticas variaban entre la expectación, la motivación y el entusiasmo (41,7 vs. 34,9 vs. 21,7%) y el excesivo olor a químico y aprensión (38,7 vs. 14,5%). Sin embargo, y a pesar de que el 20% del alumnado sintió un rechazo inicial, el 100% de ellos considera necesario la realización de prácticas con cadáveres y postulan como alternativas docentes la mesa de disección virtual (50%), plataformas digitales (36,4%) o modelos anatómicos (13,6%). Discusión: el estudio de la anatomía humana en el grado en Medicina, y según la respuesta del alumnado, debe ir ligado a prácticas con cadáveres, complementado con otras herramientas docentes. Abstract: Introduction: The study of human anatomy based on cadaver dissection has historically been one of the most widely used resources. However, the generation gap between students and teachers has led to the search for new teaching methodologies for the practical study of human anatomy, in order to replace the practice of human dissection. Material and methods: A voluntary questionnaire were sent to 360 students enrolled in one of the Human Anatomy subjects of the degree in Medicine at the University of Zaragoza to find out their perception of the practice with human cadavers. Results: The questionnaire was answered by 69.1% of the students (235/360), of whom 74.5% were women (268/360) and 25.5% men (92/360), with ages ranging from 18-20 years old in 85% (306/360) and older in the remaining 15% (54/360). The student's initial feelings about the internship ranged from anticipation, motivation and enthusiasm (41.7% vs. 34.9% vs. 21.7%) to excessive chemical smell and apprehension (38.7% vs. 14.5%). However, and despite the fact that 20% of the students felt initial rejection, 100% of them consider it necessary to practice with cadavers and postulate the virtual dissection table (50%), digital platforms (36.4%) or anatomical models (13.6%) as teaching alternatives. Discussion: The study of human anatomy in the Degree in Medicine, according to the students' responses, should be linked to practice with cadavers, complemented with other teaching tools.

Purpose: The study is intended to perform an end-to-end test of the entire intraoperative process using cadaver heads. A simulation of tumor removal was performed, followed by irradiation of the bed and measurement of absorbed doses with radiochromic films. Materials and Methods: Low-energy X-ray intraoperative radiotherapy (IORT) was used for irradiation. A computed tomography study was performed at each site and the absorbed doses calculated by the treatment planning system, as well as absorbed doses with radiochromic films, were studied. Results: The absorbed doses in the organs at risk (OAR) were evaluated in each case, obtaining maximum doses within the tolerance limits. The absorbed doses in the target were verified and the deviations were

Abstract Many kink solutions enjoy internal excitations, called shape modes. In some 1+1d scalar models, such as the ϕ 4 double-well model, when a kink’s shape mode is excited twice it may decay to a ground state kink plus a meson. We analytically calculate the decay rates of both the twice-excited shape mode and also a coherent state corresponding to the classically excited shape mode. In the case of the ϕ 4 model, we find that the latter agrees with the classical result of Manton and Merabet.

Background: To conduct a systematic review and meta-analysis of epidemiological data of injuries in male and female youth football players. Methods: Searches were performed in MEDLINE/PubMed, Web of Science, Cochrane Library, and SPORTDiscus databases. Studies were considered if they reported injury incidence rate in male and female youth (≤19 years old) football players. Two reviewers (FJRP and ALV) extracted data and assessed trial quality using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and the Newcastle Ottawa Scale. The Grading of Recommendations Assessment, Development, and Evaluation approach determined the quality of evidence. Studies were combined using a Poisson random effects regression model. Results: Forty-three studies were included. The overall incidence rate was 5.70 injuries/1000 h in males and 6.77 injuries/1000 h in females. Match injury incidence (14.43 injuries/1000 h in males and 14.97 injuries/1000 h in females) was significantly higher than training injury incidence (2.77 injuries/1000 h in males and 2.62 injuries/1000 h in females). The lower extremity had the highest incidence rate in both sexes. The most common type of injury was muscle/tendon for males and joint/ligament for females. Minimal injuries were the most common in both sexes. The incidence rate of injuries increased with advances in chronological age in males. Elite male players presented higher match injury incidence than sub-elite players. In females, there was a paucity of data for comparison across age groups and levels of play. Conclusion: The high injury incidence rates and sex differences identified for the most common location and type of injury reinforce the need for implementing different targeted injury-risk mitigation strategies in male and female youth football players.

Abstract Background Precision medicine is a promising approach that has revolutionized disease prevention and individualized treatment. The DELFOS oracle is a model-driven genomics platform that aids clinicians in identifying relevant variations that are associated with diseases. In its previous version, the DELFOS oracle did not consider the high degree of variability of genomics data over time. However, changes in genomics data have had a profound impact on clinicians’ work and pose the need for changing past, present, and future clinical actions. Therefore, our objective in this work is to consider changes in genomics data over time in the DELFOS oracle. Methods Our objective has been achieved through three steps. First, we studied the characteristics of each database from which the DELFOS oracle extracts data. Second, we characterized which genomics concepts of the conceptual schema that supports the DELFOS oracle change over time. Third, we updated the DELFOS Oracle so that it can manage the temporal dimension. To validate our approach, we carried out a use case to illustrate how the new version of the DELFOS oracle handles the temporal dimension. Results Three events can change genomics data, namely, the addition of a new variation, the addition of a new link between a variation and a phenotype, and the update of a link between a variation and a phenotype. These events have been linked to the entities of the conceptual model that are affected by them. Finally, a new version of the DELFOS oracle that can deal with the temporal dimension has been implemented. Conclusion Huge amounts of genomics data that is associated with diseases change over time, impacting patients’ diagnosis and treatment. Including this information in the DELFOS oracle added an extra layer of complexity, but using a model-driven based approach mitigated the cost of implementing the needed changes. The new version handles the temporal dimension appropriately and eases clinicians’ work.

Polypropylene-based thermoplastic elastomers continue to be materials of enormous industrial interest because of their high mechanical performance and durability. These materials are especially important, for instance, in the automotive industry, where these polyolefins accounts for up to 32% of the total plastic used in a car. In the search for new grades, poly(propylene-co-ethylene-co-norbornene) terpolymers might be of interest for the production of a new class of thermoplastic elastomers, whose properties could be tailored by controlling the composition, as well as its distribution. Unfortunately, thorough characterization of these materials has not been possible so far, because of the complexity of their 13CNMR spectra. In this work, two series of poly(propylene-co-norbornene) copolymers and poly(propylene-co-ethylene-co-norbornene) terpolymers, containing low molar fractions of norbornene and ethylene-norbornene, respectively, have been synthesized and characterized in detail by NMR analysis. The comparison of 13CNMR spectra in both series and their respective changes with norbornene ratio in the feed enables a complete assignment of signals, which reveals that the terpolymers are featured by a well-defined microstructure, consisting of propylene sequences bound by both PEP triads and well-defined norbornene-ethylene sequences. Such a particular distribution results from an associated insertion of the ethylene and the norbornene that, in addition, accounts for the higher contents of both comonomers, when compared with their respective copolymers, obtained under the same reaction conditions.

Abstract In Mexico, intensive production of bullfrogs is one of the most important aquaculture activities, due to growing demand for their meat. Frogs can be hosts for several parasites that negatively affect their development and health. The objective of this study was to identify the presence of intestinal parasites in bullfrogs in aquaculture production units. Eighteen bullfrogs aquaculture production units were selected, and 20 animals (n=360) from each farm. Fecal samples were obtained by mucosal scraping and processed using the concentration method. The overall prevalence of intestinal parasites was 70.5%, and all farms had frogs infected by some species of parasite. Two species of parasites were identified: Eimeria sp. and Strongyloides sp. Significant differences were found regarding parasite prevalence between males and females (73.8% vs 58.8%) and regarding tibia length (5.5 vs 6.1 cm) and weight (168 vs 187 g) between parasitized and non-parasitized frogs. In conclusion, the present study showed a high prevalence of intestinal parasites, and morphometric alterations (weight, snout-cloaca length, radio-ulna length, tibia length and distance between parotid glands) were identified in the parasitized animals. These results provided useful information that will enable establishment of adequate control measures to help minimize the adverse effects of these parasites.

In this article, we will describe a model to examine the influence of differently organized institutions on their scientific productivity. We take two extreme cases, on one hand, an institution divided in departments with no collaboration between people in different departments. These could be disciplines or merely projects. On the other hand, we consider an institution that allows interactions between all individuals, without a departmental structure to a department. We compare the results with data from the Institute of Renewable Energy (IER) at UNAM, which has changed its organization and policies during the last 30 years, and we could quantitatively predict the changes observed in productivity and multidisciplinarity. This model can be applied to a broader set of institutions and processes.

Colombia, se destaca como país productor de cacao fino y de aroma, por lo cual, resulta de gran importancia explorar las características físicas y sensoriales de la diversidad genética existente. Para el presente estudio, se seleccionaron 22 genotipos de colecciones de trabajo con atributos productivos sobresalientes y dos testigos comerciales, reconocidos por su productividad y calidad sensorial; las muestras evaluadas fueron tomadas, de acuerdo con un muestreo aleatorio simple y se realizó un proceso de poscosecha homogéneo, controlado e independiente por genotipo, para obtener muestras de cacao seco individuales. Se realizaron análisis físicos al grano de cada genotipo y se preparó licor de cacao con cada una de las muestras obtenidas. Posteriormente, se evaluó cada licor por medio del panel de evaluación sensorial entrenado, donde se identificó y cuantificó la intensidad de atributos básicos, atributos especiales y atributos adquiridos, característicos de cada muestra. La información fue analizada mediante estadística descriptiva y análisis de componentes principales, lo que permitió la identificación de tres genotipos sobresalientes por el índice de grano y el porcentaje de cascarilla. El análisis sensorial evidenció que, en diecisiete genotipos, predominaron los atributos especiales, como herbal, floral, frutal, frutos secos y dulce. Estos resultados son un aporte importante para la selección de nuevas variedades de alta productividad, con características sensoriales de interés para la comercialización, que pueden ser evaluadas en diferentes regiones, para aumentar la disponibilidad genética en futuros programas de renovación y siembra de cacao que está en expansión, en los distintos territorios del país.

The deficiency of CITRIN, the liver mitochondrial aspartate–glutamate carrier (AGC), is the cause of four human clinical phenotypes, neonatal intrahepatic cholestasis caused by CITRIN deficiency (NICCD), silent period, failure to thrive and dyslipidemia caused by CITRIN deficiency (FTTDCD), and citrullinemia type II (CTLN2). Clinical symptoms can be traced back to disruption of the malate-aspartate shuttle due to the lack of citrin. A potential therapy for this condition is the expression of aralar, the AGC present in brain, to replace citrin. To explore this possibility we have first verified that the NADH/NAD+ ratio increases in hepatocytes from citrin(−/−) mice, and then found that exogenous aralar expression reversed the increase in NADH/NAD+ observed in these cells. Liver mitochondria from citrin (−/−) mice expressing liver specific transgenic aralar had a small (~ 4–6 nmoles x mg prot−1 x min−1) but consistent increase in malate aspartate shuttle (MAS) activity over that of citrin(−/−) mice. These results support the functional replacement between AGCs in the liver. To explore the significance of AGC replacement in human therapy we studied the relative levels of citrin and aralar in mouse and human liver through absolute quantification proteomics. We report that mouse liver has relatively high aralar levels (citrin/aralar molar ratio of 7.8), whereas human liver is virtually devoid of aralar (CITRIN/ARALAR ratio of 397). This large difference in endogenous aralar levels partly explains the high residual MAS activity in liver of citrin(−/−) mice and why they fail to recapitulate the human disease, but supports the benefit of increasing aralar expression to improve the redox balance capacity of human liver, as an effective therapy for CITRIN deficiency.

Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the risk and phenotype of patients might vary in populations with different genetic backgrounds. The aim of this study was to assess the relationship of intermediate CAG expansions in ATXN2 with the risk and phenotype of ALS and FTD in the Spanish population. Repeat-primed PCR was performed in 620 ALS and 137 FTD patients in three referral centers in Spain to determine the exact number of CAG repeats. In our cohort, ≥27 CAG repeats in ATXN2 were associated with a higher risk of developing ALS (odds ratio [OR] = 2.666 [1.471–4.882]; p = 0.0013) but not FTD (odds ratio [OR] = 1.446 [0.558–3.574]; p = 0.44). Moreover, ALS patients with ≥27 CAG repeats in ATXN2 showed a shorter survival rate compared to those with p = 0.005), more frequent limb onset (odds ratio [OR] = 2.34 [1.093–4.936]; p = 0.028) and a family history of ALS (odds ratio [OR] = 2.538 [1.375–4.634]; p = 0.002). Intermediate CAG expansions of ≥27 repeats in ATXN2 are associated with ALS risk but not with FTD in the Spanish population. ALS patients carrying an intermediate expansion in ATXN2 show more frequent limb onset but a worse prognosis than those without expansions. In patients carrying C9orf72 expansions, the intermediate ATXN2 expansion might increase the penetrance and modify the phenotype.

The time evolution of the total number of free electrons in the Earth’s ionosphere, i.e., the Global Electron Content (GEC), during more than two solar cycles is analyzed in this work. The GEC time series has been extracted from the Global Ionospheric Maps (GIMs) of Vertical Total Electron Content (VTEC) estimated by UPC-IonSAT with TOMION-v1 software from global GPS measurements since the end of 1996. A dual-layer voxel-based tomographic model solved with a forward Kalman scalar filter, from dual-frequency carrier GPS data only, provides the so-called UQRG GIM after VTEC kriging interpolation, with a resolution of 15 min in time, 5° in longitude and 2.5° in latitude. UQRG is one of the best behaving GIMs in the International GNSS Service (IGS).In this context, the potential application of the GEC spectrum evolution as a potential space weather index is discussed and demonstrated.