Improving Quality of Life in Patients at Risk for Post–Intensive Care Syndrome

Objective: To improve quality of life (QOL) in patients at risk for post–intensive care syndrome (PICS). Patients and Methods: We conducted a mixed-method, prospective, observational, pre-post interventional study in an adult medical and mixed medical/surgical/transplant intensive care unit (ICU) at a tertiary academic hospital. Preintervention included patients admitted from October 1 through October 31, 2016, and postintervention included patients admitted from January 15 through February 14, 2017. First, a multidisciplinary team of stakeholders identified barriers associated with decreased QOL in patients at risk for PICS. Next, interventions were designed and implemented. The effect of interventions was assessed using a mixed-method analysis. The qualitative analysis used a modified grounded theory approach. The quantitative analysis included assessment of preexisting symptoms and risk factors associated with PICS. The 36-Item Short-Form Health Status Survey (SF-36), which surveys physical and mental composite scores, was used to assess QOL. Results: Barriers identified were lack of awareness and understanding of PICS. Interventions included educational videos, paper and online education and treatment materials, and online and in-person support groups for education and treatment. After interventions, the qualitative analysis found that patients who participated in the interventions after hospital discharge showed improved QOL, whereas education during hospitalization alone was not effective. The quantitative analysis did not find improvement in QOL, as defined by SF-36 physical or mental composite scores. Conclusion: Interventions targeted to patients after hospitalization may offer subjective improvement in QOL for those at risk for PICS

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious