De novo point mutations in patients diagnosed with ataxic cerebral palsy

Cerebral palsy is commonly attributed to perinatal asphyxia. However, Schnekenberg et al. describe here four individuals with ataxic cerebral palsy likely due to de novo dominant mutations associated with increased paternal age. Therefore, patients with cerebral palsy should be investigated for genetic causes before the disorder is ascribed to asphyxi

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies.peer-reviewe

Cultures of resistance : identity, politicization and health promotion among lesbian activists in Vancouver, B.C.

This thesis examines the relationship between activism, identity and well-being among a small group of lesbian activists in Vancouver, B.C. It explores the idea of the margin as a site of resistance, highlighting the connection between (stigmatized) identities and resilience. The relationship between activism and mental and physical wellbeing is explored, political consciousness and social justice work being named as key determinants of health. Individual interviews with 7 lesbians (the author included) who have been active in social justice work were conducted, as well as a focus group. A self-reflective exercise was also undertaken to capture the researcher's thoughts and feelings throughout the process. This project highlights the power of identity, however shifting and unstable it may be, in the lives of lesbian activists. Their narratives disrupt Utopian visions of lesbian communities as ideologically homogeneous, stable and nurturing; Depicted is a more complex image of activist networks where differential power relations exist and certain subjectivities are privileged. Activism, despite having a negative impact on physical health, was seen to be beneficial for mental well-being, increasing the participants' sense of purpose, connection, and power.Education, Faculty ofEducational Studies (EDST), Department ofGraduat

Towards health equity for people experiencing chronic pain and social marginalization

Objective: For people who experience social inequities and structural violence, pain and related care are inexorably linked to experiences of injustice and stigma. The purpose of this study was to examine in greater depth the experiences of pain and discrimination and stigma across diverse marginalized communities in order to recommend equity-oriented healthcare approaches. Methods: This community-based qualitative study reports on four focus groups that included 36 people living with pain. All participants identified with one of three groups known to experience high levels of inequities and structural violence including an Indigenous group, a LGBTQ2S group, and two newcomer and refugee groups. Results: Pain was entangled with and shaped by: social locations and identities, experiences of violence, trauma and related mental health issues, experiences of discrimination, stigma and dismissal, experiences of inadequate and ineffective health care, and the impacts of these intersecting experiences. Conclusions: Equity-oriented responses to chronic pain would recognize pain not only as a biomedical issue but as a social justice issue. The EQUIP Framework is an approach to integrating trauma- and violence-informed care; culturally-safe care; and harm reduction in health care that may hold promise for being tailored to people experiencing pain and social marginalization.Applied Science, Faculty ofNon UBCNursing, School ofReviewedFacult

The Impact of Preoperative Patient Education on Postoperative Pain, Opioid Use, and Psychological Outcomes: A Narrative Review

ABSTRACTBackground Recent studies have shown that preoperative education can positively impact postoperative recovery, improving postoperative pain management and patient satisfaction. Gaps in preoperative education regarding postoperative pain and opioid use may lead to increased patient anxiety and persistent postoperative opioid use.Objectives The objective of this narrative review was to identify, examine, and summarize the available evidence on the use and effectiveness of preoperative educational interventions with respect to postoperative outcomes.Method The current narrative review focused on studies that assessed the impact of preoperative educational interventions on postoperative pain, opioid use, and psychological outcomes. The search strategy used concept blocks including “preoperative” AND “patient education” AND “elective surgery,” limited to the English language, humans, and adults, using the MEDLINE ALL database. Studies reporting on preoperative educational interventions that included postoperative outcomes were included. Studies reporting on enhanced recovery after surgery protocols were excluded.Results From a total of 761 retrieved articles, 721 were screened in full and 34 met criteria for inclusion. Of 12 studies that assessed the impact of preoperative educational interventions on postoperative pain, 5 reported a benefit for pain reduction. Eight studies examined postoperative opioid use, and all found a significant reduction in opioid consumption after preoperative education. Twenty-four studies reported on postoperative psychological outcomes, and 20 of these showed benefits of preoperative education, especially on postoperative anxiety.Conclusion Preoperative patient education interventions demonstrate promise for improving postoperative outcomes. Preoperative education programs should become a prerequisite and an available resource for all patients undergoing elective surgery

Researching what matters to improve chronic pain care in Canada: A priority-setting partnership process to support patient-oriented research

<p><b>Background</b>: Chronic pain affects more than 6 million Canadians. Patients need to be involved in setting research priorities to ensure a focus on areas important to those who will be most impacted by the results.</p> <p><b>Aims</b>: The aim of this study was to leverage patient experiences to identify chronic pain research priorities in Canada.</p> <p><b>Method</b>: The process was informed by the James Lind Alliance. After gathering an exhaustive list of questions using surveys, town hall meetings, interviews, and social media consultations, we used a computerized Delphi with four successive iterations to select the final list of research priorities. The final Delphi round was conducted by a panel of ten patients living with chronic pain and ten clinicians from different disciplines.</p> <p><b>Results</b>: We received more than 5000 suggestions from 1500 people. The Delphi process led to the identification of 14 questions fitting under the following 4 themes: (1) improving knowledge and competencies in chronic pain; (2) improving patient-centered chronic pain care; (3) preventing chronic pain and reducing associated symptoms; and (4) improving access to and coordination of patient-centered chronic pain care. Challenges included the issue of chronic pain being ubiquitous to many diseases, leading to many initial suggestions focusing on these diseases. We also identified the need for further engagement efforts with marginalized groups in order to validate the priorities identified or identify different sets of priorities specific to these groups.</p> <p><b>Conclusion</b>: The priorities identified can guide patient-oriented chronic pain research to ultimately improve the care offered to people living with chronic pain.</p