Criteria for admitting elderly patients with acute coronary syndrome to critical care units from Spanish hospital emergency departments: a LONGEVO-SCA cohort study

Objetivo: la información sobre los condicionantes de ingreso en unidades de críticos (UC) de pacientes ancianos con síndrome coronario agudo (SCA) es escasa. El objetivo de este estudio fue describir los factores asociados al ingreso en UC en una serie de ancianos no seleccionados con SCA en España. Métodos: el registro LONGEVO-SCA incluyó prospectivamente pacientes 80 años con SCA sin elevación del segmento ST (SCASEST), realizándose una valoración geriátrica intrahospitalaria y analizándose la evolución clínica a los 6 meses. Se analizaron los condicionantes de ingreso en UC mediante regresión logística binaria. Resultados: de un total de 508 pacientes (edad media 84,3 años), 150 (29,5%) fueron ingresados en UC. Los pacientes ingresados en UC presentaban menor edad, mayor proporción de insuficiencia cardíaca aguda, troponina positiva y peor función ventricular izquierda, así como puntuaciones superiores en las escalas de riesgo GRACE y ACTION-ICU. Estos pacientes presentaban, asimismo, una mejor situación funcional y una menor prevalencia de fragilidad, y fueron sometidos a coronariografía con mayor frecuencia (p < 0,001). No se apreciaron diferencias en mortalidad hospitalaria ni evolución a los 6 meses entre ambos grupos. Los predictores independientes de ingreso en UC fueron la ausencia de insuficiencia cardíaca previa, troponina positiva al ingreso, disfunción ventricular izquierda, valores elevados en la escala GRACE y en el índice de Charlson, y ausencia de fragilidad. Conclusiones: alrededor de un tercio de los ancianos con SCASEST son ingresados en UC. Los pacientes ingresados en UC presentan mayor perfil de riesgo al ingreso y menor prevalencia de síndromes geriátricos

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)

Criteria for admitting elderly patients with acute coronary syndrome to critical care units from Spanish hospital emergency departments: a LONGEVO-SCA cohort study

Podeu consultar la versió en castellà a http://hdl.handle.net/2445/166994Objectives: Information on criteria for admitting elderly patients with acute coronary syndrome (ACS) to intensive care units (ICUs) is scarce. We aimed to describe factors associated with ICU admission in unselected older patients with ACS in Spain. Material and methods: The prospective LONGEVO-SCA registry (Impact of Frailty and Other Geriatric Syndromes on the Management of and Mortality in Elderly Patients With Non-ST-segment Elevation Acute Coronary Syndrome) included unselected patients over the age of 80 years with non-ST-segment elevation SCA. A geriatric assessment of each patient was done in the hospital. Clinical outcomes at 6 months were analyzed. Bivariate logistic regression analysis was applied to identify ICU admission criteria. Results: Of 508 patients with a mean age of 84.3 years, 150 (29.5%) were admitted to the ICU. The admitted patients were younger and more often had acute heart failure, elevated troponin levels, and poor left ventricular function. They also scored higher on the Acute Coronary Treatment and Intervention Outcomes Network-ICU (ACTION-ICU) and Global Registry of Acute Coronary Events (GRACE) risk scales. These patients had higher functional status scores and a lower prevalence of frailty and had more often undergone coronary angiography (P < .001). No differences in hospital mortality or outcomes at 6 months were detected between patients admitted or not admitted to ICUs. The following variables were independent predictors of ICU admission: no history of a previous episode of heart failure, an elevated troponin level on arrival, left ventricular dysfunction, high GRACE score and high Charlson Comorbidity Index, and absence of frailty. Conclusion: Around a third of elderly patients with non-ST-segment elevation ACS are admitted to an ICU. Admitted patients have a higher risk profile on arrival and a lower prevalence of geriatric syndromes