Cross-validation of methods used for analysis of MTBE and other gasoline components in groundwater.

Head space gas chromatography with flame-ionization detection (HS-GC-FID), ancl purge and trap gas chromatography-mass spectrometry (P&T-GC-MS) have been used to determine methyl-tert-butyl ether (MTBE) and benzene, toluene, and the ylenes (BTEX) in groundwater. In the work discussed in this paper measures of quality, e.g. recovery (94-111%), precision (4.6 - 12.2%), limits of detection (0.3 - 5.7 I~g L 1 for HS and 0.001 I~g L 1 for PT), and robust-ness, for both methods were compared. In addition, for purposes of comparison, groundwater samples from areas suffering from odor problems because of fuel spillage and tank leakage were analyzed by use of both techniques. For high concentration levels there was good correlation between results from both methods

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

De novo GRIN variants, encoding for the ionotropic glutamate NMDA receptor subunits, have been recently associated with GRIN-related disorders, a group of rare paediatric encephalopathies. Current investigational and clinical efforts are focused to functionally stratify GRIN variants, towards precision therapies of this primary disturbance of glutamatergic transmission that affects neuronal function and brain. In the present study, we aimed to comprehensively delineate the functional outcomes and clinical phenotypes of GRIN protein truncating variants (PTVs)—accounting for ~20% of disease-associated GRIN variants—hypothetically provoking NMDAR hypofunctionality. To tackle this question, we created a comprehensive GRIN PTVs variants database compiling a cohort of nine individuals harbouring GRIN PTVs, together with previously identified variants, to build-up an extensive GRIN PTVs repertoire composed of 293 unique variants. Genotype–phenotype correlation studies were conducted, followed by cell-based assays of selected paradigmatic GRIN PTVs and their functional annotation. Genetic and clinical phenotypes meta-analysis revealed that heterozygous GRIN1, GRIN2C, GRIN2D, GRIN3A and GRIN3B PTVs are non-pathogenic. In contrast, heterozygous GRIN2A and GRIN2B PTVs are associated with specific neurological clinical phenotypes in a subunit- and domain-dependent manner. Mechanistically, cell-based assays showed that paradigmatic pathogenic GRIN2A and GRIN2B PTVs result on a decrease of NMDAR surface expression and NMDAR-mediated currents, ultimately leading to NMDAR functional haploinsufficiency. Overall, these findings contribute to delineate GRIN PTVs genotype–phenotype association and GRIN variants stratification. Functional studies showed that GRIN2A and GRIN2B pathogenic PTVs trigger NMDAR hypofunctionality, and thus accelerate therapeutic decisions for this neurodevelopmental condition.ISCIII, cofunded by European Regional Development Fund (ERDF), a way to build Europe (grants PI19/00348 and PI16/00851); Miguel Servet Program (CPII16/00021, ISCIII) and Serra Húnter Fellow to X.A.; SAF2016-77830-R to M.O.; European Regional development Fund (ERDF)-Ministerio de Ciencia e Innovación (grant BFU2017-83317-P) and Ministerio de Ciencia e Innovación-María de Maeztu (MDM-2017-0729) to D.S. and PI18/00111 [ISCIII, cofunded by European Regional Development Fund (ERDF), a way to build Europe] to À.G.-C. and N.J.-P.; Fundación Tatiana Pérez de Guzmán el Bueno PhD fellowship to A.S.-G.; crowdfunding initiative Precipita (FECYT) to F.M

Patient Experience in Pancreas-Kidney Transplantation-A Methodological Approach Towards Innovation in an Established Program

Simultaneous pancreas-kidney transplantation (SPKT) leads to increased survival and quality of life, and is an alternative treatment for insulin-dependent diabetes mellitus and end-stage kidney disease. Due to the particularities of this population (often with multiple comorbidities) and of the surgery (only performed in a few centers), a comprehensive analysis of patients' experience along the SPKT process is crucial to improve patient care and add value to this procedure. Therefore, we applied a systematic and iterative methodology with the participation of both patients and professional teams working together to explore and identify unmet needs and value-adding steps along the transplant patient journey at an established pancreas transplant program. Four main steps (to comprehend, to explore, to experiment and to assess) led to several interventions around three major areas: Administration and logistics, information and communication, and perceived quality of assistance. As a result, both displacements to the hospital for diagnostic purposes and the time delay involved in joining the patient waiting list for transplantation were reduced in parallel to the administrative procedures. In conclusion, the methodological implementation of key organizational changes has great impact on overall patient experience. Further quantitative analysis from the patient's perspective will consolidate our program and may add new prototype service design components

Guia per a la prevenció i el control de l'hepatitis C

Hepatitis C; Prevenció; TractamentHepatitis C; Prevención; TratamientoHepatitis C; Prevention; TreatmentL'objectiu d'aquesta guia és posar a l'abast dels professionals mèdics de Catalunya un resum dels coneixements disponibles sobre l'agent causal, l'epidemiologia, la part clínica i especialment sobre el diagnòstic, el tractament i la prevenció de l'hepatitis C.El objetivo de esta guía es poner al alcance de los profesionales médicos de Cataluña un resumen de los conocimientos disponibles sobre el agente causal, la epidemiología, la parte clínica y especialmente sobre el diagnóstico, el tratamiento y la prevención de la hepatitis C.The purpose of this guide is to make available to medical professionals in Catalonia a summary of the knowledge available on the causative agent, the epidemiology, the clinical part and especially on the diagnosis, treatment and prevention of the disease hepatitis C

Cross-validation of methods used for analysis of MTBE and other gasoline components in groundwater.

Head space gas chromatography with flame-ionization detection (HS-GC-FID), ancl purge and trap gas chromatography-mass spectrometry (P&T-GC-MS) have been used to determine methyl-tert-butyl ether (MTBE) and benzene, toluene, and the ylenes (BTEX) in groundwater. In the work discussed in this paper measures of quality, e.g. recovery (94-111%), precision (4.6 - 12.2%), limits of detection (0.3 - 5.7 I~g L 1 for HS and 0.001 I~g L 1 for PT), and robust-ness, for both methods were compared. In addition, for purposes of comparison, groundwater samples from areas suffering from odor problems because of fuel spillage and tank leakage were analyzed by use of both techniques. For high concentration levels there was good correlation between results from both methods

Germina: herramienta para la detección automática de agrupaciones de casos de COVID-19

Resumen: La pandemia de COVID-19 evidenció que la vigilancia epidemiológica no disponía de recursos para responder a los aumentos de casos ni a los brotes. La alta transmisibilidad comunitaria entre la población escolar en la ciudad de Barcelona al inicio de la sexta ola tensionó la unidad de vigilancia de COVID-19 de la ciudad. Mediante metodología SCRUM se desarrolló e implementó Germina, una herramienta informática capaz de capturar, armonizar, integrar, almacenar, analizar y visualizar diariamente datos de múltiples fuentes de información. Germina permite identificar agrupaciones de tres o más casos escolares y calcular indicadores epidemiológicos. La implementación de Germina facilitó la respuesta epidemiológica a la sexta ola de COVID-19 en el ámbito escolar en Barcelona. Esta herramienta es aplicable a otros ámbitos de exposición y a otras enfermedades transmisibles. El uso de herramientas informáticas automatizadas, como Germina, mejora los sistemas de vigilancia epidemiológica y apoya la toma de decisiones basada en la evidencia. Abstract: The COVID-19 pandemic showed that epidemiological surveillance was under-resourced to respond to increases in cases and outbreaks. The high community transmissibility among the school population in the city of Barcelona at the beginning of the sixth wave strained the local COVID-19 surveillance unit. Using SCRUM methodology, Germina was developed and implemented as a software tool capable of capturing, harmonizing, integrating, storing, analysing and visualizing data from multiple information sources on a daily basis. Germina identifies clusters of three or more school cases and calculates epidemiological indicators. The implementation of Germina facilitated the epidemiological response to the sixth wave of COVID-19 in the school setting in the city of Barcelona. This tool is transferable to other exposure settings and communicable diseases. The use of automated informatics tools such, as Germina, improves epidemiological surveillance systems and supports evidence-based decision making

Evaluation of a quality improvement intervention to reduce anastomotic leak following right colectomy (EAGLE): pragmatic, batched stepped-wedge, cluster-randomized trial in 64 countries

Background Anastomotic leak affects 8 per cent of patients after right colectomy with a 10-fold increased risk of postoperative death. The EAGLE study aimed to develop and test whether an international, standardized quality improvement intervention could reduce anastomotic leaks. Methods The internationally intended protocol, iteratively co-developed by a multistage Delphi process, comprised an online educational module introducing risk stratification, an intraoperative checklist, and harmonized surgical techniques. Clusters (hospital teams) were randomized to one of three arms with varied sequences of intervention/data collection by a derived stepped-wedge batch design (at least 18 hospital teams per batch). Patients were blinded to the study allocation. Low- and middle-income country enrolment was encouraged. The primary outcome (assessed by intention to treat) was anastomotic leak rate, and subgroup analyses by module completion (at least 80 per cent of surgeons, high engagement; less than 50 per cent, low engagement) were preplanned. Results A total 355 hospital teams registered, with 332 from 64 countries (39.2 per cent low and middle income) included in the final analysis. The online modules were completed by half of the surgeons (2143 of 4411). The primary analysis included 3039 of the 3268 patients recruited (206 patients had no anastomosis and 23 were lost to follow-up), with anastomotic leaks arising before and after the intervention in 10.1 and 9.6 per cent respectively (adjusted OR 0.87, 95 per cent c.i. 0.59 to 1.30; P = 0.498). The proportion of surgeons completing the educational modules was an influence: the leak rate decreased from 12.2 per cent (61 of 500) before intervention to 5.1 per cent (24 of 473) after intervention in high-engagement centres (adjusted OR 0.36, 0.20 to 0.64; P < 0.001), but this was not observed in low-engagement hospitals (8.3 per cent (59 of 714) and 13.8 per cent (61 of 443) respectively; adjusted OR 2.09, 1.31 to 3.31). Conclusion Completion of globally available digital training by engaged teams can alter anastomotic leak rates. Registration number: NCT04270721 (http://www.clinicaltrials.gov)