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IDH1/2 mutations, intervening in epigenetic procedures, are frequently encountered in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Knowledge of the genetics, immunophenotypes, and mutational kinetics of IDH1/2-mutated AML can contribute to the understanding of AML clonal architecture and inform therapeutics and monitoring. We retrospectively analyzed 50 IDH1/2-mutated AML/MDS-EB cases of our institution, to identify recurrent co-mutations, immunophenotypes, patterns of co-variance of IDH1/2 allele burdens with those of recurrent co-mutations, frequency of persistent IDH1/2 mutation as clonal hematopoiesis of indeterminate potential (CHIP) in remission and response to hypomethylating agents. Most frequently co-mutated genes were DNMT3A, SRSF2 and NPM1. Most cases with co-existent IDH1/2 and NPM1 mutations (11/13) showed an 'APL-like' immunophenotype (CD34-HLADR-). Allele burdens of mutated IDH1/2 were identical to mutated SRSF2 allele burdens at diagnosis and remission, but not always to mutated NPM1 allele burden in remission. We show persistence of significant mutIDH1/2 allele burden in approximately one-fourth of patients with deep remissions. IDH1/2 mutations were significantly more frequent among responders to first-line HMA-based regimens than among non-responders, in patients treated for myeloid neoplasms with excess blasts. IDH1/2 mutations are most frequently accompanied by DNMT3A, SRSF2 and NPM1 mutations. NPM1-IDH1/2 mutated AML has a mature phenotype possibly amenable to differentiation therapies. IDH1/2 and SRSF2 mutations probably arise at the same developmental stage of the disease, as their allele burdens covariate. IDH1/2 mutation represents CHIP in a substantial proportion of cases and is therefore no reliable residual disease marker. The preferential presence of IDH1/2 mutations among HMA-responders could inform therapeutic decisions if confirmed in larger series. [ABSTRACT FROM AUTHOR]

Aims: The purpose of this study is to provide a theoretical framework for the analysis of medication adherence based on longitudinal data from electronic medication monitors and to suggest methods for unbiased estimation of the effect of time and covariates on adherence. Methods: After defining the statistical summaries involved in adherence analyses and the assumptions necessary for their estimation, we address the issue of bias encountered when adherence is estimated on censored data. We suggest 2 unbiased methods to estimate adherence: (i) indirect combining implementation and persistence; and (ii) based on weights, allowing estimation of the effect of time and covariates on adherence via generalized estimating equations models. Results: We applied the proposed methods to investigate the effect of sex on adherence in a sample of 43 oncology patients followed 1 year. Implementation was higher for men than for women at baseline (98.8 vs. 97.5%, odds ratio [OR] 2.08, 95% confidence interval [CI]: 1.00–4.35), whereas the relationship was reversed at 1 year (94.5 vs. 96.4%, OR 0.65, 95%CI: 0.28–1.52). Adherence declined faster in men, with year‐end values of 46.3% for men and 92.2% for women (OR 0.07, 95%CI: 0.02–0.26). Conclusion: Estimation of adherence is a complex statistical issue with longitudinal and duration data, possibly censored, interleaving. This study provides a theoretical framework and suggests methods for unbiased estimation of adherence as a function of time and covariates. This allows the effect of an intervention to be estimated in clinical trials, and helps healthcare providers reframe adherence programmes to address covariates such as sex. [ABSTRACT FROM AUTHOR]

Hereditary transthyretin‐related (hATTR) amyloidosis is a rare disease, causing a disabling and life‐threatening axonal length‐dependent polyneuropathy. Monitoring of disease progression and treatment response is difficult. We aimed to determine if serum neurofilament light chain (sNfL) is a reliable and early biomarker of peripheral neuropathy in hATTR amyloidosis. We prospectively included 20 hATTR patients, 14 symptomatic and 6 asymptomatic. Patients were assessed at baseline and 1 year, including a full clinical examination with disease severity and functional scores, electrochemical skin conductance measurement with Sudoscan and nerve conduction studies, and sNfL level. hATTR patient sNfL were also compared with sNfL of 4532 healthy controls of a reference database by calculating age and BMI‐adjusted Z scores. At baseline, median sNfL concentration was 3.6‐fold higher in symptomatic than asymptomatic hATTR patients (P =.003), and this difference was also found in our under 60‐years‐old patients (P =.003). There was no significant difference of sNfL concentration between asymptomatic patients and healthy controls (Z‐score of −0.29), but a significant difference between symptomatic patients and healthy controls (Z‐score of 2.52). We found a significant correlation between sNfL levels and most clinical and electrophysiological disease severity scores, the strongest correlation being with the NIS score. sNfL seems to be a reliable biomarker of peripheral neuropathy severity in hATTR amyloidosis and can distinguish between asymptomatic and symptomatic patients. sNfL could also become a reliable biomarker to establish disease onset and treatment response. [ABSTRACT FROM AUTHOR]

Objective: This study investigated the effectiveness of liraglutide 3.0 mg daily in combination with a standardized multidisciplinary intervention on body weight and body composition changes in a real‐life setting. Methods: A prospective, observational cohort study design was used. Adult patients with BMI > 35 kg/m2, or BMI > 28 kg/m2 with greater than or equal to one metabolic comorbidity, were included (n = 54, 65% women). Liraglutide treatment was covered by Swiss health insurance. Clinical and biological data were collected at baseline, 4 months, and 10 months. Body composition was assessed by dual‐energy x‐ray absorptiometry at baseline and 10 months. Results: At 10 months, mean (SD) percentage weight loss (WL%) was −12.4% (5.5%) or −14.1 (6.6) kg. WL% was ≥5% in 87% of patients at 4 months and in 96% at 10 months. WL% was higher in women (−9.5% [3.1%] vs. men −7.2% [2.5%], p = 0.02) at 4 months and persisted at 10 months (−13.7% [5.2%] vs. −9.6% [5.1%], p = 0.006). WL% was associated with baseline percentage fat mass but not with age or BMI. Body composition showed a decrease in fat mass, visceral adipose tissue, and absolute lean mass. Conclusions: In a real‐world setting, liraglutide 3.0 mg led to beneficial changes in WL and body composition, with a greater impact in women. [ABSTRACT FROM AUTHOR]

Accessible Summary: What is known about the subject?: The evaluation of nurse care practices poses many challenges, including the identification of all the aspects of the care given. Few studies have looked at the scope of nursing practice in psychiatry. However, the evaluation of care practices in the mental health field poses many challenges, including the identification of all aspects of care. What the document adds to existing knowledge?: Findings demonstrated that mental health nurses do not invest in all domains of their scope of practice in the same way and the time spent with patients is low. Several factors contributed to this, including the increasing complexity of care, stagnant staffing levels, and a culture of care that continues to be influenced by the medical model. Current models of care still retain the stigma of this past, prioritizing medically delegated tasks rather than promoting a holistic approach to care. Although the professional identity of nurses is evolving and asserting itself, the paradigm shift in practice is still incomplete. What are the implications for practice?: It is essential to describe concretely what is actually expected of nurses, to help them allocate their time effectively and to identify opportunities for improvement. The field of practice of nurses is put under stress by a demanding work environment subject to many pressures and constraints. Changing practices so that nurses can use the full scope of nursing practice requires strong nursing leadership and action on education and the organization of care, particularly on clinical assessment. Introduction: The evaluation of nursing care practices poses many challenges, including identifying all the aspects of the care given. However, few studies have examined the scope of nursing practice in psychiatry. Aim: The aim of this study was to describe the intensity of nursing activities on a psychiatric unit based on the adaptation of Déry and D'Amour's (2017, Perspect Infirm Rev Off Ordre Infirm Qué, 14, 51) Scope of Nursing Practice Model. Method: This 56‐day descriptive observational study used the time and motion method to follow eight nurses. Results: 500 h of observations were carried out. The greatest lengths of time were allocated to communication and coordination of care activities and to "non‐healthcare" domains. Less time was devoted to activities related to clinical evaluation and therapeutic education. Discussion: Findings demonstrated that MHNs do not perform all the possible functions in the domains of their scope of practice in the same way, and time spent with patients was short. Several factors contributed to this, including the fact that nurses are working in increasingly demanding care settings that keep them under constant pressure. [ABSTRACT FROM AUTHOR]