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The HEPiX Benchmarking Working Group has devised a new HEPspecific benchmark, HEPscore23. This benchmark is an instance of the underlying benchmarking tool that is HEPscore, also created by the Working Group during this endeavor. HEPscore can be set up to run different HEP Workloads, autonomous production applications sourced from various HEP experiments. Through study and analysis, a subset of those workloads was elected, the minimal set that best represented HEP applications overall. To streamline the benchmarking process, this benchmarking framework includes the HEP Benchmark Suite, which facilitates the execution of HEPscore and other benchmarks, such as HEP-SPEC06, SPEC CPU 2006, and DB12. This paper elucidates the rationale behind the benchmark, and the framework created to develop it, delineates the key design considerations, diving into the motivations behind it and the flexibility and advantages that is offers as a replacement of HS06 in the WLCG and HEP communities.

Monitoring of the CERN Data Centres and the WLCG infrastructure is now largely based on the new monitoring infrastructure provided by CERN IT. This is the result of the migration from several old in-house developed monitoring tools into a common monitoring infrastructure based on open source technologies such as Collectd, Flume, Kafka, Spark, InfluxDB, Grafana and others. This new infrastructure relies on CERN IT services (OpenStack, Puppet, Gitlab, DBOD, etc) and covers the full range of monitoring tasks: metrics and logs collection, alarms generation, data validation and transport, data enrichment and aggregation (where applicable), dashboards visualisation, reports generation, etc. This contribution will present the different services offered by the infrastructure today, highlight the main monitoring use cases from the CERN Data Centres and WLCG, and analyse the last years experience of moving from legacy well-established custom monitoring tools into a common open source-based infrastructure.

Background: Neurodevelopmental disorders (NDDs) represent a significant challenge in pediatric genetics, often requiring advanced diagnostic tools for the accurate identification of genetic variants., Objectives: To determine the diagnostic yield of whole exome sequencing (WES) with targeted gene panels in children with neurodevelopmental disorders (NDDs)., Methods: This observational, prospective study included a total of 176 Spanish-speaking pediatric patients with neurodevelopmental disorders (NDDs), encompassing intellectual disability (ID), global developmental delay (GDD), and/or autism spectrum disorder (ASD). Participants were recruited from January 2019 to January 2023 at a University Hospital in Madrid, Spain. Clinical and sociodemographic variables were recorded, along with genetic study results. The age range of the subjects was 9 months to 16 years, and the percentage of males was 72.1%. The diagnostic yield of whole exome sequencing (WES) was calculated both before and after parental testing via Sanger DNA sequencing., Results: The study included 176 children: 67 (38.1%) with ID, 62 (35.2%) with ASD, and 47 (26.7%) with ASD + ID. The diagnostic yield of proband-only exome sequencing was 12.5% (22/176). By group, the diagnostic yield of proband-only exome sequencing was 3.2% in the ASD, 12.7% in the ASD + ID, and 20.8% in the ID group. Variants of uncertain significance (VUS) were found in 39.8% (70/176). After parental testing, some variants were reclassified as "likely pathogenic", increasing the diagnostic yield by 4.6%, with an overall diagnostic yield of 17.1%. Diagnostic yield was higher in patients with syndromic ID (70.6%% vs. 29.4%; p = 0.036)., Conclusions: A sequential approach utilizing WES followed by panel-based analysis, starting with the index case and, when appropriate, including the parents, proves to be a cost-effective strategy. WES is particularly suitable for complex conditions, as it allows for the identification of potentially causative genes beyond those covered by targeted panels, providing a more comprehensive analysis. Including parental testing enhances the diagnostic yield and improves accuracy, especially in cases with variants of uncertain significance (VUS), thereby advancing our understanding of NDDs.

The population dissemination of invasive genotypes of C. trachomatis and an increase of urogenital infections cases by non-invasive genotypes have been observed in many countries. In this epidemiological context, the descriptions of a high proportion of infections related to L-genotypes in asymptomatic patients, but also to infections caused by non-L genotypes in symptomatic patients have been unexpected finding. The plasmid copy number (PCN) has been proposed as a surrogate marker of virulence. We quantified the PCN in 233 samples and 179 samples carrying L-genotype and non-L genotypes respectively. A significant difference in the median of PCN was detected between symptomatic/asymptomatic patients (P < 0.001), independently of the genotype. Moreover, PCN could vary, in the same strain, among different anatomical sites suggesting that micro-environmental changes could affect virulence. These findings suggest that the quantification of PCN in clinical samples could improve the management of patients., (Copyright © 2021. Published by Elsevier Inc.)

Objectives: Gonococcal infection is one of the most reported sexually transmitted infections and antimicrobial resistance in Neisseria gonorrhoeae (NG) is challenging for the treatment of this infection. This observational study aimed to describe antimicrobial resistance of NG and epidemiological data from patients with gonococcal infection in eight regions of Spain, for updating the local therapeutic guidelines., Methods: MICs of penicillin, cefixime, ceftriaxone, azithromycin, ciprofloxacin, fosfomycin and gentamicin were determined by Etest for all NG isolates recovered from 1 April 2018 to 30 September 2019 from 10 hospitals in Spain. Resistance determinants were identified using logistic regression analysis. Differences with a P value <0.05 were considered statistically significant., Results: Antimicrobial susceptibility testing was performed for 2571 gonococci isolated from 2429 patients. 44.5% (945/2124) of patients were MSM. The resistance rate to extended-spectrum cephalosporins was low, with 0.2% (6/2561) of isolates resistant to ceftriaxone and 1.7% (44/2517) of isolates resistant to cefixime. The overall azithromycin resistance rate was 12.1% (310/2560), but differed greatly depending on the area. 56.2% (1366/2429) of the strains studied were ciprofloxacin resistant. MIC50 and MIC90 values of gentamicin and fosfomycin were 4 and 8 mg/L and 24 and 48 mg/L, respectively., Conclusions: Our study shows that NG susceptibility to extended-spectrum cephalosporins remains high in Spain. The azithromycin resistance rate questions the suitability of dual therapy. This study provides data of interest for updating the national treatment guidelines and highlights the need to develop and implement a national sentinel gonococcal antimicrobial susceptibility programme., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objective: To describe the professional training health professionals receive in community health engagement in Spain., Method: The identification and descriptive analysis of trainings developed between 2013-2018 offered by public universities, public administrations and the teaching units for the specialization of family and community health doctors and nurses., Results: Twenty eight trainings were included in the descriptive analysis. Most of them had been organized during 2018 in eight Autonomous Communities. Two of them were organized at a national level. Most trainings were attendance based and have been developed by teaching units in charge of training doctors and nurses specializing in family and community health, with an average duration of 10-25hours and no enrolment costs., Conclusion: There is a lack of training in community health engagement in the majority of autonomous communities in Spain which shows that it is scarce and not yet fully integrated in the training of health professionals. The trainings that have been analyzed are mainly part of wider specialization programs for doctors and nurses specializing in family and community health, and even so this training is not standardized and included in the specialization programs of all the Spanish regions. To develop a comprehensive health approach it is key to include community health engagement as part of the trainings professionals receive during their University degree, and to extend it to other health professions. The institutions responsible for the training of health professionals should include community health engagement as part of the different training itineraries of professionals., (Copyright © 2019 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background: To compare the prognostic value of pulse amplitude on intracranial pressure (ICP) monitoring and disproportionately enlarged subarachnoid space hydrocephalus (DESH) on magnetic resonance imaging (MRI) for predicting surgical benefit after shunt placement in idiopathic normal pressure hydrocephalus (iNPH)., Method: Patients with suspected iNPH were prospectively recruited from a single centre. All patients received preoperative MRI and ICP monitoring. Patients were classified as shunt responders if they had an improvement of one point or more on the NPH score at 1 year post-surgery. The sensitivity, specificity, Youden index, and positive and negative predictive values of the two diagnostic methods were calculated., Results: Sixty-four of 89 patients clinically improved at 1 year post-surgery and were classed as shunt responders. Positive DESH findings had a sensitivity of 79.4 % and specificity of 80.8 % for predicting shunt responders. Fifty-five of 89 patients had positive DESH findings: 50 of these responded to VP shunt, giving a positive and negative predictive value of 90.9 % and 61.8 %, respectively. Fifty-seven of 89 patients had high ICP pulse amplitude. High ICP pulse amplitude had a sensitivity of 84.4 %, specificity of 88 %, positive predictive value of 94.7 % and negative predictive value of 61.8 % for predicting shunt responders., Conclusions: Both positive DESH findings and high ICP pulse amplitude support the diagnosis of iNPH and provide additional diagnostic value for predicting shunt-responsive patients; however, high ICP amplitude was more accurate than positive DESH findings, although it is an invasive test.

The gastric volvulus is a not very frequent entity that can show up in acute form or chronic. The acute volvulus can show up with the triad of Borchardt, the chronic one can be asymptomatic and its diagnosis is usually incidental. We present shows a case of an airplane pilot that presents dyspnea to the medium efforts with cough related with episodes of gastric acidity mainly after profuse foods. The diagnostic confirmation was carried out by means of radiological simple and contrasted studies. A surgical intervention was performed and the symptoms disappeared without other alterations in a period of pursuit of one year.