Guiding signs in metabolic disease diagnosis

Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada. Sin embargo existen algunos datos de la exploración física y de las pruebas complementarias que pueden enfocar el proceso diagnóstico hacia la solicitud de pruebas específicas que lo confirmen. El caso que presentamos trata de destacar algunos de estos datos que pueden hacer sospechar la existencia de un defecto congénito de la glucosilación de proteínas, trastorno infrecuente pero con algunas formas tratables, por lo que su sospecha y diagnóstico precoz es de vital importanciaInborn errors of metabolism are a group of genetic diseases with non specific symptoms and therefore difficult to diagnose without high clinical suspicion. However there are some physical examination data and laboratory tests that can focus the diagnostic process to the implementation of specific tests to confirm them. The case exposed highlights some of these data that can make us suspect the existence of a congenital defect of glycosylation of proteins, rare disorder but with some treatable variations, that make their suspicion and early diagnosis of great importanc

Evaluación del uso apropiado de medicamentos en atención primaria. ¿Cómo se puede mejorar?

IntroducciónEl proceso de medicación de un paciente abarca la identificación de su problema de salud, la prescripción para esa indicación por parte del médico, la dispensación farmacéutica y el consumo del fármaco. Los estudios de utilización de medicamentos analizan dicho proceso con el de detectar los factores que alteran el uso correcto de los fármacos.ObjetivoEvaluar la calidad de la prescripción de ciertos medicamentos en atención primaria en función de la indicación para la que fueron prescritos, detectando aquellas características de los pacientes, médicos prescriptores, centros de atención primaria y áreas de salud que influyen en su uso inapropiado.MétodoEstudio prescripción-indicación basado en la estimación de modelos multinivel con bases de datos individualizadas de las prescripciones, que contienen características de las prescripciones, pacientes, médicos, centros de salud y áreas de salud de pertenencia. Estos modelos suponen un avance en este tipo de estudios ya que permiten analizar de forma conjunta la información de distintos niveles y estimar sus respectivas «cuotas de responsabilidad» en la inadecuación de la prescripción.DiscusiónAdemás de su interés metodológico, que puede guiar estudios posteriores, el principal interés del trabajo estriba en su carácter pionero en la utilización masiva de microdatos poblacionales para evaluar la calidad de la prescripción, que proceden de las historias clínicas informatizadas de atención primaria.IntroductionThe process of medicating a patient embraces the identification of the health problem, the doctor’ s prescription to treat this indication, the dispensing of the medicine and its consumption. The studies of use of medicine analyse this process in order to detect those factors that impinge on the correct use of medicines.ObjectiveTo evaluate the quality of the prescription of certain primary care medicines as a function of the indication for which they were prescribed, detecting those features of the patients, prescribing doctors, primary care centre and health district that affect their inappropriate use.MethodPrescription-indication study based on the calculation of multiple-level models with individualised data bases for the prescriptions. These include characteristics of the prescriptions, patients, doctors, health centres and the health district involved. These models are a step forward in this kind of study, in that they enable analysis of the information from different levels at the same time as calculation of the respective «degrees of responsibility» for inadequacies of prescription.DiscussionApart from its methodological originality, which may serve for subsequent studies, the main interest of this study lies in the pioneering nature of its massive use of population micro-data to evaluate prescription quality. These data are taken from the computerised clinical records in primary care

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

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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

Differential clinical characteristics and prognosis of intraventricular conduction defects in patients with chronic heart failure

Intraventricular conduction defects (IVCDs) can impair prognosis of heart failure (HF), but their specific impact is not well established. This study aimed to analyse the clinical profile and outcomes of HF patients with LBBB, right bundle branch block (RBBB), left anterior fascicular block (LAFB), and no IVCDs. Clinical variables and outcomes after a median follow-up of 21 months were analysed in 1762 patients with chronic HF and LBBB (n = 532), RBBB (n = 134), LAFB (n = 154), and no IVCDs (n = 942). LBBB was associated with more marked LV dilation, depressed LVEF, and mitral valve regurgitation. Patients with RBBB presented overt signs of congestive HF and depressed right ventricular motion. The LAFB group presented intermediate clinical characteristics, and patients with no IVCDs were more often women with less enlarged left ventricles and less depressed LVEF. Death occurred in 332 patients (interannual mortality = 10.8%): cardiovascular in 257, extravascular in 61, and of unknown origin in 14 patients. Cardiac death occurred in 230 (pump failure in 171 and sudden death in 59). An adjusted Cox model showed higher risk of cardiac death and pump failure death in the LBBB and RBBB than in the LAFB and the no IVCD groups. LBBB and RBBB are associated with different clinical profiles and both are independent predictors of increased risk of cardiac death in patients with HF. A more favourable prognosis was observed in patients with LAFB and in those free of IVCDs. Further research in HF patients with RBBB is warranted

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

Abstract 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