X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

White matter changes in psychosis risk relate to development and are not impacted by the transition to psychosis

Subtle alterations in white matter microstructure are observed in youth at clinical high risk (CHR) for psychosis. However, the timing of these changes and their relationships to the emergence of psychosis remain unclear. Here, we track the evolution of white matter abnormalities in a large, longitudinal cohort of CHR individuals comprising the North American Prodrome Longitudinal Study (NAPLS-3). Multi-shell diffusion magnetic resonance imaging data were collected across multiple timepoints (1–5 over 1 year) in 286 subjects (aged 12–32 years): 25 CHR individuals who transitioned to psychosis (CHR-P; 61 scans), 205 CHR subjects with unknown transition outcome after the 1-year follow-up period (CHR-U; 596 scans), and 56 healthy controls (195 scans). Linear mixed effects models were fitted to infer the impact of age and illness-onset on variation in the fractional anisotropy of cellular tissue (FAT) and the volume fraction of extracellular free water (FW). Baseline measures of white matter microstructure did not differentiate between HC, CHR-U and CHR-P individuals. However, age trajectories differed between the three groups in line with a developmental effect: CHR-P and CHR-U groups displayed higher FAT in adolescence, and 4% lower FAT by 30 years of age compared to controls. Furthermore, older CHR-P subjects (20+ years) displayed 4% higher FW in the forceps major (p < 0.05). Prospective analysis in CHR-P did not reveal a significant impact of illness onset on regional FAT or FW, suggesting that transition to psychosis is not marked by dramatic change in white matter microstructure. Instead, clinical high risk for psychosis—regardless of transition outcome—is characterized by subtle age-related white matter changes that occur in tandem with development

Evolution of the use of corticosteroids for the treatment of hospitalised COVID-19 patients in Spain between March and November 2020: SEMI-COVID national registry

Objectives: Since the results of the RECOVERY trial, WHO recommendations about the use of corticosteroids (CTs) in COVID-19 have changed. The aim of the study is to analyse the evolutive use of CTs in Spain during the pandemic to assess the potential influence of new recommendations. Material and methods: A retrospective, descriptive, and observational study was conducted on adults hospitalised due to COVID-19 in Spain who were included in the SEMI-COVID- 19 Registry from March to November 2020. Results: CTs were used in 6053 (36.21%) of the included patients. The patients were older (mean (SD)) (69.6 (14.6) vs. 66.0 (16.8) years; p < 0.001), with hypertension (57.0% vs. 47.7%; p < 0.001), obesity (26.4% vs. 19.3%; p < 0.0001), and multimorbidity prevalence (20.6% vs. 16.1%; p < 0.001). These patients had higher values (mean (95% CI)) of C-reactive protein (CRP) (86 (32.7-160) vs. 49.3 (16-109) mg/dL; p < 0.001), ferritin (791 (393-1534) vs. 470 (236- 996) µg/dL; p < 0.001), D dimer (750 (430-1400) vs. 617 (345-1180) µg/dL; p < 0.001), and lower Sp02/Fi02 (266 (91.1) vs. 301 (101); p < 0.001). Since June 2020, there was an increment in the use of CTs (March vs. September; p < 0.001). Overall, 20% did not receive steroids, and 40% received less than 200 mg accumulated prednisone equivalent dose (APED). Severe patients are treated with higher doses. The mortality benefit was observed in patients with oxygen saturation </=90%. Conclusions: Patients with greater comorbidity, severity, and inflammatory markers were those treated with CTs. In severe patients, there is a trend towards the use of higher doses. The mortality benefit was observed in patients with oxygen saturation </=90%

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Analysis and identification of volatiles associated to Olive Bark Beetle Phloetribus scarabaeoides (Bern.) Contribution to the determination of the semiochemicals involved

Se ha llevado a cabo un estudio sistemático de los semioquímicos asociados al barrenillo del olivo Phloeotribus scarabaeoides (Bern.) Que implica el análisis por CG y CG-EM de los volátiles procedentes de diferentes materiales (leños de poda, ramas del árbol, serrines e insectos)a fin de determinar las posibles kairomonas, feromonas y repelentes.A systematic study of the semiochemicals associated to the olive bark beetle Phloeotribus scarabaeoides (Bern.) is described. This study describes the analysis by GC and GC-MS the air volatiles from different sources (pruned logs, branches, frasses and insects) with the aim of determining the posible kairomones, pheromones and repellents.This work has been supported by research project AGF-95-0969-C02-02 funded by CICYT

Postprandial status and cardiovascular disease risk. Statement of position [Estado posprandial y riesgo de enfermedad cardiovascular. Declaratoria de posición]

[No abstract available

Recomendaciones específicas para enfermería sobre el proceso de terapia endovenosa

Intravenous therapy includes among other actions, the installation procedures, handling and retirement of the catheter, procedures that the nurses carries out in a frequent way in the institutions of health. Nurses intervenes in the doctortherapeutic plan and they are responsible for maintaining a level of experience and specific knowledge to provide the necessary cares indicated in the therapeutic plan and in attention to the conditions of each patient. Derived of the Recommendations to improve attention in nursing, these specific recommendations are emitted related with the intravenous therapy, directed to prevent conflicts in the nursing attention and to improve the communication with the patient. Due to the importance of this topic National Medical Arbitration Commission of Mexico (CONAMED) and the External Validation Group coordinated by the Nursing Interinstitutional Commission of Mexico, emit these recommendations: 1) Establish a good nurse-patient relationship; 2) Avoid complications in the catheter installation; 3) Watch over the intravenous therapy to prevent complications; 4) Move away the catheter avoiding risks in the physical integrity of the patients and 5) Diminish the risk factors for the intravenous therapy responsible personnel.La terapia endovenosa incluye entre otros, los procedimientos de instalación, manejo y retiro del catéter, procedimientos que el personal de enfermería realiza de manera frecuente en las instituciones de salud. El personal de enfermería interviene en el plan médico-terapéutico y es responsable de mantener un nivel de experiencia y conocimientos específicos para proporcionar los cuidados necesarios indicados en el plan terapéutico y en atención a las condiciones particulares de cada paciente. Derivado de las Recomendaciones para mejorar la atención en enfermería, se emiten estas recomendaciones específicas relacionadas con la terapia endovenosa, estas recomendaciones están dirigidas para prevenir conflictos en la atención de los pacientes y para mejorar la comunicación con ellos. Debido a la importancia de este tema la CONAMED y el grupo de validación externa coordinado por la Comisión Interinstitucional de Enfermería, emiten estas recomendaciones: 1) Establecer una buena relación enfermera(o)-paciente; 2) Evitar complicaciones en la instalación del catéter; 3) Vigilar la terapia endovenosa para prevenir complicaciones; 4) Retirar el catéter evitando riesgos en la integridad física de los pacientes y 5) Disminuir los factores de riesgo por el personal responsable de la terapia endovenosa

Dissection of Transient Oxidative Stress Response in Saccharomyces cerevisiae by Using DNA Microarrays

Yeast cells were grown in glucose-limited chemostat cultures and forced to switch to a new carbon source, the fatty acid oleate. Alterations in gene expression were monitored using DNA microarrays combined with bioinformatics tools, among which was included the recently developed algorithm REDUCE. Immediately after the switch to oleate, a transient and very specific stress response was observed, followed by the up-regulation of genes encoding peroxisomal enzymes required for fatty acid metabolism. The stress response included up-regulation of genes coding for enzymes to keep thioredoxin and glutathione reduced, as well as enzymes required for the detoxification of reactive oxygen species. Among the genes coding for various isoenzymes involved in these processes, only a specific subset was expressed. Not the general stress transcription factors Msn2 and Msn4, but rather the specific factor Yap1p seemed to be the main regulator of the stress response. We ascribe the initiation of the oxidative stress response to a combination of poor redox flux and fatty acid-induced uncoupling of the respiratory chain during the metabolic reprogramming phase