ABSTRACT
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.
Subject(s)
Community Mental Health Services , Mass Screening , Mental Disorders/complications , Metabolic Syndrome/epidemiology , Severity of Illness Index , Adult , Community Mental Health Centers , Cross-Sectional Studies , Female , Humans , Male , Prevalence , Psychiatric Nursing , Risk Factors , Smokers/statistics & numerical data , Spain/epidemiologyABSTRACT
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.
Subject(s)
Genome, Human/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Mutation/genetics , Amino Acid Sequence , Animals , Carrier Proteins/genetics , DNA Mutational Analysis , Humans , Karyopherins/genetics , Molecular Sequence Data , Myeloid Differentiation Factor 88/chemistry , Myeloid Differentiation Factor 88/genetics , Receptor, Notch1/genetics , Receptors, Cytoplasmic and Nuclear/genetics , Reproducibility of Results , Exportin 1 ProteinABSTRACT
The development of metabolic syndrome negatively affects the quality of life of people with serious mental illness. Experts agree on the need to evaluate the physical health of patients and intervene in modifiable risk factors, with emphasis on the promotion of healthy lifestyles. Interventions should include nutritional counselling and physical activity. This 24-week randomized trial evaluated the effects of a community-based nurse-led lifestyle-modification intervention in people with serious mental illness meeting metabolic syndrome criteria, and its impact on health-related quality of life and physical activity. Sixty-one participants from two community mental health centres were randomly assigned to the intervention or control group. The intervention consisted of weekly group sessions, with 20 min of theoretical content and 60 min of nurse-led physical activity. Postintervention results between groups showed no differences in weight, waist circumference, fasting glucose, and systolic blood pressure. Differences in body mass index, triglyceride concentrations, and diastolic blood pressure were found to be significant (P = 0.010, P = 0.038, and P = 0.017). Participants who performed the intervention reported an increase in physical activity, which did not occur in the control group (P = 0.035), and also reported better health status (P < 0.001). Our intervention showed positive effects reducing participants' cardiovascular and metabolic risks and improving their physical activity and quality of life. To our knowledge, this is the first clinical trial led and carried out by mental health nurses in community mental health centres which takes into account the effects of a lifestyle intervention on every metabolic syndrome criterion, health-related quality of life, and physical activity.