Metabolic Syndrome Screening in People With Severe Mental Illness: Results From Two Spanish Community Mental Health Centers.

BACKGROUND: The excess of mortality in people with severe mental illness is due to unnatural causes such as accidents or suicides and natural causes such as metabolic syndrome. The presence of modifiable risk factors like tobacco consumption increases cardiovascular and metabolic risk. AIMS: The purpose of this study was to identify the prevalence of metabolic syndrome and other cardiovascular risk factors in people with severe mental illness. This study also aimed to identify the prevalence of patients receiving treatment for any metabolic syndrome risk factor. METHOD: A cross-sectional descriptive study was performed. A total of 125 participants from two community mental health centers in Spain were recruited. RESULTS: More than half of the participants (58.4%) were active smokers. The prevalence of metabolic syndrome was 60%. A total of 16.8% received previous treatment for hypertension, 17.6% for hypertriglyceridemia, and 11.2% for diabetes. No differences were found between centers (22.7% vs. 18.7%, p = .9). CONCLUSIONS: The findings underscore the importance of monitoring the physical health of patients on antipsychotic therapy. The identification and management of cardiovascular and metabolic risks factors is an essential part of nursing care for people with severe mental illness. Mental health nurses are ideally positioned to carry out this task by performing physical health screening, health education, and lifestyle interventions.

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes. The molecular changes leading to the pathogenesis of the disease are still poorly understood. Here we performed whole-genome sequencing of four cases of CLL and identified 46 somatic mutations that potentially affect gene function. Further analysis of these mutations in 363 patients with CLL identified four genes that are recurrently mutated: notch 1 (NOTCH1), exportin 1 (XPO1), myeloid differentiation primary response gene 88 (MYD88) and kelch-like 6 (KLHL6). Mutations in MYD88 and KLHL6 are predominant in cases of CLL with mutated immunoglobulin genes, whereas NOTCH1 and XPO1 mutations are mainly detected in patients with unmutated immunoglobulins. The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease. To our knowledge, this is the first comprehensive analysis of CLL combining whole-genome sequencing with clinical characteristics and clinical outcomes. It highlights the usefulness of this approach for the identification of clinically relevant mutations in cancer.