Measuring family-centred care practices in adult intensive care units: The EMPATHIC-F questionnaire

Background: Engaging relatives in the care of critically ill patients is associated with better outcomes. It is crucial to empower relatives to provide feedback. Valid satisfaction instruments are essential to identify best practices and areas for improvement. Aim: The aim of the study was to adapt the Spanish version of the EMpowerment of PArents in The Intensive Care-30 (EMPATHIC-30) questionnaire in adult intensive care units (ICUs) and psychometrically test the EMpowerment of PAtients in The Intensive Care-Family (EMPATHIC-F) questionnaire to measure family satisfaction. Design: This is a cross-sectional, prospective study conducted in two adult ICUs. Participants were relatives of patients who were discharged alive from the ICUs with an ICU length-of-stay >24 hours. The EMPATHIC-F questionnaire is divided into five domains that are related to the family-centred care principles. Responses are provided on a 6-point ordinal Likert scale, a score of >5 is considered acceptable. Results: Patients' relatives confirmed the adaptation of the instrument. A total of 262 relatives responded to the EMPATHIC-F questionnaire (97% response rate). The empirical structure of the instrument was established by confirmatory factor analysis confirming 30 statements within five theoretically conceptualized domains: information, care and treatment, family participation, organization, and professional attitude. On item level, two statements scored a mean below 5.0. Cronbach's α at the domain level was between.64 and.75. Congruent validity was adequate between the five domains and four general satisfaction items (r's.26-.54). The non-differential validity was confirmed with no significant effect size between three patients' demographic characteristics and the domains. Conclusions: The EMPATHIC-F questionnaire is a reliable and valid quality performance indicator to measure the perceptions of family members in adult ICU settings. Relevance to clinical practice: The EMPATHIC-F questionnaire can be used to benchmark and provides a framework for standardized quality improvement towards the development of a family-centred care philosophy within adult ICUs

Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia

Myelodysplastic syndromes (MDS) are hematological disorders at high risk of progression to secondary acute myeloid leukemia (sAML). However, the mutational dynamics and clonal evolution underlying disease progression are poorly understood at present. To elucidate the mutational dynamics of pathways and genes occurring during the evolution to sAML, next generation sequencing was performed on 84 serially paired samples of MDS patients who developed sAML (discovery cohort) and 14 paired samples from MDS patients who did not progress to sAML during follow-up (control cohort). Results were validated in an independent series of 388 MDS patients (validation cohort). We used an integrative analysis to identify how mutations, alone or in combination, contribute to leukemic transformation. The study showed that MDS progression to sAML is characterized by greater genomic instability and the presence of several types of mutational dynamics, highlighting increasing (STAG2) and newly-acquired (NRAS and FLT3) mutations. Moreover, we observed cooperation between genes involved in the cohesin and Ras pathways in 15-20% of MDS patients who evolved to sAML, as well as a high proportion of newly acquired or increasing mutations in the chromatin-modifier genes in MDS patients receiving a disease-modifying therapy before their progression to sAML.This work was supported by grants from the Spanish Fondo de Investigaciones Sanitarias FIS PI18/01500, PI17/01741, Instituto de Salud Carlos III (ISCIII), Fondo de Investigación Sanitaria (Instituto de Salud Carlos III – Contratos Río Hortega (CM17/0017), European Regional Development Fund (ERDF), Una manera de hacer Europa, European Union Seventh Framework Programme [FP7/2007-2013] under Grant Agreement nº306242-NGS-PTL, SYNtherapy: Synthetic Lethality for Personalized Therapy-based Stratification in Acute Leukemia (ERAPERMED2018-275); ISCIII (AC18/00093), Proyectos de Investigación del SACYL, Gerencia Regional de Salud de Castilla y León: GRS1850/A18, GRS1653/A17, and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC CB16/12/00233). MMI is supported by a predoctoral grant from the Junta de Castilla y León, and by the Fondo Social Europeo (JCYL-EDU/556/2019 PhD scholarship) and JMHS is supported by a research grant from Fundación Española de Hematología y Hemoterapia

Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients

SF3B1 is a highly mutated gene in myelodysplastic syndrome (MDS) patients, related to a specific subtype and parameters of good prognosis in MDS without excess blasts. More than 40% of MDS patients carry at least two myeloid-related gene mutations but little is known about the impact of concurrent mutations on the outcome of MDS patients. In applying next-generation sequencing (NGS) with a 117 myeloid gene custom panel, we analyzed the co-occurrence of SF3B1 with other mutations to reveal their clinical, biological, and prognostic implications in very low/low- and intermediate-risk MDS patients. Mutations in addition to those of SF3B1 were present in 80.4% of patients (median of 2 additional mutations/patient, range 0–5). The most frequently mutated genes were as follows: TET2 (39.2%), DNMT3A (25.5%), SRSF2 (10.8%), CDH23 (5.9%), and ASXL1, CUX1, and KMT2D (4.9% each). The presence of at least two mutations concomitant with that of SF3B1 had an adverse impact on survival compared with those with the SF3B1 mutation and fewer than two additional mutations (median of 54 vs. 87 months, respectively: p = 0.007). The co-occurrence of SF3B1 mutations with specific genes is also linked to a dismal prognosis: SRSF2 mutations were associated with shorter overall survival (OS) than SRSF2wt (median, 27 vs. 75 months, respectively; p = 0.001), concomitant IDH2 mutations (median OS, 11 [mut] vs. 75 [wt] months; p = 0.001), BCOR mutations (median OS, 11 [mut] vs. 71 [wt] months; p = 0.036), and NUP98 and STAG2 mutations (median OS, 27 and 11 vs. 71 months, respectively; p = 0.008 and p = 0.002). Mutations in CHIP genes (TET2, DNMT3A) did not significantly affect the clinical features or outcome. Our results suggest that a more comprehensive NGS study in low-risk MDS SF3B1mut patients is essential for a better prognostic evaluation.This work was supported by grants from the following: Contrato Rio Hortega, CM17/00171; Gerencia Regional de Salud (Castilla y León) para proyectos de investigación año 2018, 1850/A/18; Spanish Fondo de Investigaciones Sanitarias, PI15/01471, PI18/01500; Instituto de Salud Carlos III (ISCIII); European Regional Development Fund (ERDF) “Una manera de hacer Europa”; Consejería de Educación, Junta de Castilla y León (SA271P18); Proyectos de Investigación del SACYL, Spain, GRS1847/A/18, GRS1653/A17; SYNtherapy, Synthetic Lethality for Personalized Therapy-based Stratification In Acute Leukemia (ERAPERMED2018–275); ISCIII (AC18/00093), co-funded by ERDF/ESF, “Investing in your future”, by grants from Red Temática de Investigación Cooperativa en Cáncer (RTICC) (RD12/0036/0069) and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC CB16/12/00233). JMHS is supported by a research grant from Fundación Española de Hematología y Hemoterapia. MM is currently supported by an Ayuda predoctoral de la Junta de Castilla y León from the Fondo Social Europeo (JCYL- EDU/556/2019 PhD scholarship)

Measuring family-centred care practices in adult ICUs: the EMPATHIC-F questionnaire

Background: Engaging relatives in the care of critically ill patients is associated with better outcomes. It is crucial to empower relatives to provide feedback. Valid satisfaction instruments are essential to identify best practices and areas for improvement. Aim: The aim of the study was to adapt the Spanish version of the EMpowerment of PArents in The Intensive Care-30 (EMPATHIC-30) questionnaire in adult intensive care units (ICUs) and psychometrically test the EMpowerment of PAtients in The Intensive Care-Family (EMPATHIC-F) questionnaire to measure family satisfaction. Design: This is a cross-sectional, prospective study conducted in two adult ICUs. Participants were relatives of patients who were discharged alive from the ICUs with an ICU length-of-stay >24 hours. The EMPATHIC-F questionnaire is divided into five domains that are related to the family-centred care principles. Responses are provided on a 6-point ordinal Likert scale, a score of >5 is considered acceptable. Results: Patients' relatives confirmed the adaptation of the instrument. A total of 262 relatives responded to the EMPATHIC-F questionnaire (97% response rate). The empirical structure of the instrument was established by confirmatory factor analysis confirming 30 statements within five theoretically conceptualized domains: information, care and treatment, family participation, organization, and professional attitude. On item level, two statements scored a mean below 5.0. Cronbach's α at the domain level was between .64 and .75. Congruent validity was adequate between the five domains and four general satisfaction items (r's .26-.54). The non-differential validity was confirmed with no significant effect size between three patients' demographic characteristics and the domains. Conclusions: The EMPATHIC-F questionnaire is a reliable and valid quality performance indicator to measure the perceptions of family members in adult ICU settings. Relevance to clinical practice: The EMPATHIC-F questionnaire can be used to benchmark and provides a framework for standardized quality improvement towards the development of a family-centred care philosophy within adult ICUsS