41 research outputs found

    Classification of patient-safety incidents in primary care

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    Primary care lags behind secondary care in the reporting of, and learning from, incidents that put patient safety at risk. In primary care, there is no universally agreed approach to classifying the severity of harm arising from such patient-safety incidents. This lack of an agreed approach limits learning that could lead to the prevention of injury to patients. In a review of research on patient safety in primary care, we identified 21 existing approaches to the classification of harm severity. Using the World Health Organization's (WHO's) International Classification for Patient Safety as a reference, we undertook a framework analysis of these approaches. We then developed a new system for the classification of harm severity. To assess and classify harm, most existing approaches use measures of symptom duration (11/21), symptom severity (11/21) and/or the level of intervention required to manage the harm (14/21). However, few of these approaches account for the deleterious effects of hospitalization or the psychological stress that may be experienced by patients and/or their relatives. The new classification system we developed builds on WHO's International Classification for Patient Safety and takes account not only of hospitalization and psychological stress but also of so-called near misses and uncertain outcomes. The constructs we have outlined have the potential to be applied internationally, across primary-care settings, to improve both the detection and prevention of incidents that cause the most severe harm to patients

    Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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    Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort. Methods: We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays. Results: Our data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants. Conclusion: Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome

    Evaluating the effects of chemotherapy on cognitive function and quality of life in pre-menopausal women with breast cancer

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    Dissertation (Ph.D.)--University of Kansas, Psychology, 2007.A number of studies have documented significant reductions in quality of life (QOL) and cognitive function in women with breast cancer (BrCa) receiving adjuvant chemotherapy. These decrements can be identified in some women even several years following treatment. However, the majority of relevant research has been based on retrospective data in women with BrCa. Moreover, current estimates suggest that 25% of BrCa will be diagnosed in women under age 50, and little data are available regarding younger women's cognitive function and QOL during chemotherapy. This study examined the change in cognitive function and QOL in 20 pre-menopausal women with BrCa receiving chemotherapy. Measures of cognitive functioning and QOL, along with serum hormone values (i.e., estradiol), were analyzed prior to, during, and post-treatment. Objective measures of cognitive functioning on the High Sensitivity Cognitive Screen (HSCS) did not change over the course of treatment, except for a significant improvement in memory performance. Subjective cognitive difficulties, as assessed with the Breast Cancer Prevention Trial (BCPT) Cognitive Problems subscale and clinical interview, increased significantly over the study period. The HSCS Total score and Memory subscales were not significantly associated with BCPT Cognitive Problems. Chemotherapy-relevant measures of QOL, including menopausal symptoms, fatigue, and depressive symptoms, all significantly worsened over the course of treatment. Higher levels of blood hemoglobin at baseline, but no QOL measures, predicted an increase in BCPT Cognitive Problems over the course of treatment. Higher baseline hemoglobin, as well as older age and lower hot flashes, predicted an increase in fatigue, and lower baseline hot flashes predicted an increase in depressive symptoms. Lower baseline levels of serum estradiol and higher depressive symptoms predicted an increase in hot flashes. This in-depth study of pre-menopausal women with BrCa suggests that deficits in cognition, at least in young and highly educated sample such as in the current study, might have been overestimated in previous studies. Continued research with longitudinal study designs and larger samples is necessary to further understand the impact of diagnosis and treatment of young women with BrCa

    Breast cancer survivorship: A model for risk assessment and follow-up care.

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