Morally Problematic Situations Encountered by Adults Living With Rare Diseases.

BACKGROUND: Rare diseases are generally poorly understood from scientific and medical standpoints due, to their complexity and low prevalence. As a result, individuals living with rare diseases struggle to obtain timely diagnoses and suitable care. These clinical difficulties add to the physical and psychological impacts of living with chronic and often severe medical conditions. From the standpoint of pragmatist ethics, the morally problematic situations that adults living with rare diseases experience matter crucially. However, there is little known about these experiences. METHODS: A survey study was conducted with 121 adults living with rare diseases in Québec, Canada, to identify morally problematic situations encountered in the healthcare system and everyday life as part of a participatory action research project. Morally problematic situations elicited internal tensions and constraints to agency. RESULTS: Adults living with rare diseases experienced morally problematic situations of stigmatization, disbelief, and sometimes abuse in the healthcare system. These situations were compounded by diagnostic delays, inadequate care, and suboptimal follow-up, and led some individuals to opt-out of medical care. In their personal lives, these individuals sometimes found themselves in situations of physical and financial dependency. They often also had to give up professional occupations, academic training, or life projects. CONCLUSIONS: Adults living with rare diseases experience important morally problematic situations navigating the healthcare system and their everyday lives, some of which could be alleviated through interventions developed through future participatory action research.

An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.

BACKGROUND: Owing to their low prevalence, rare diseases are poorly addressed in the scientific literature and clinical practice guidelines. Thus, health care workers are inadequately equipped to provide timely diagnoses, appropriate treatment, and support for these poorly understood conditions. These clinical tribulations are experienced as moral challenges by patients, jeopardizing their life trajectories, dreams, and aspirations. OBJECTIVE: This paper presents an ethical action plan for rare disease care and the process underlying its development. METHODS: This action plan was designed through an ethical inquiry conducted by the Ethics and Rare Diseases Working Group, which included 3 patient partners, 2 clinician researchers, and 1 representative from Québec's rare disease association. RESULTS: The plan is structured into 4 components. Component A presents the key moral challenges encountered by patients, which are the lack of knowledge on rare diseases among health care workers, the problematic attitudes that it sometimes elicits, and the distress and powerlessness experienced by patients. Component B emphasizes a vision for patient partnership in rare disease care characterized by open-mindedness, empathy, respect, and support of patient autonomy from health care workers. Component C outlines 2 courses of action prompted by this vision: raising awareness among health care workers and empowering patients to better navigate their care. Component D compares several interventions that could help integrate these 2 courses of action in rare disease care. CONCLUSIONS: Overall, this action plan represents a toolbox that provides a review of multiple possible interventions for policy makers, hospital managers, practitioners, researchers, and patient associations to critically reflect on key moral challenges experienced by patients with rare diseases and ways to mitigate them. This paper also prompts reflection on the values underlying rare disease care, patient experiences, and health care workers' beliefs and behaviors. Health care workers and patients were the primary beneficiaries of this action plan.

Optimal interlesion distance for 90 and 50†watt radiofrequency applications with low ablation index values: experimental findings in a chronic ovine model.

AIMS: The optimal interlesion distance (ILD) for 90 and 50 W radiofrequency applications with low ablation index (AI) values in the atria has not been established. Excessive ILDs can predispose to interlesion gaps, whereas restrictive ILDs can predispose to procedural complications. The present study sought, therefore, to experimentally determine the optimal ILD for 90 W-4 s and 50 W applications with low AI values to optimize catheter ablation outcomes in humans. METHODS AND RESULTS: Posterior intercaval lines were created in eight adult sheep using CARTO and the QDOT-MICRO catheter in a temperature-controlled mode. In four animals, the lines were created with 50 W applications, a target AI value ≥350, and ILDs of 6, 5, 4, and 3 mm, respectively. In the other four animals, the lines were created with 90 W-4 s applications and ILDs of 6, 5, 4, and 3 mm, respectively. Activation maps were created immediately after ablation and at 21 days to assess linear block prior to gross and histological analyses. All eight lines appeared transmural and continuous on histology. However, for 50 W-only applications with an ILD of 3 mm resulted in durable linear electrical block, whereas for 90 W applications, only the lines with ILDs of 4 and 3 mm were blocked. No complications were detected during ablation procedures, but all power and ILD combinations except 50 W-6 mm resulted in asymptomatic shallow lung lesions. CONCLUSION: In the intercaval region in sheep, for 50 W applications with an AI value of ∼370, the optimal ILD is 3 mm, whereas for 90 W-4 s applications, the optimal ILD is 3-4 mm.

Understanding Rare Disease Experiences Through the Concept of Morally Problematic Situations.

Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences.

Left ventricular summit premature ventricular contractions treated by venous ethanol infusion: Scar assessment by magnetic resonance imaging.

Left ventricular (LV) summit premature ventricular contractions (PVCs) are often unresponsive to radiofrequency (RF) ablation. Retrograde venous ethanol infusion (RVEI) can be a valuable alternative in this scenario. A 43-year-old woman without structural heart disease presented with LV summit PVCs unresponsive to RF ablation because of their deep-seated origin. Unipolar pace mapping performed through a wire inserted into a branch of the distal great cardiac vein (GCV) demonstrated 12/12 concordance with the clinical PVCs thus indicating close proximity to PVCs' origin. RVEI abolished the PVCs without complications. Subsequently, magnetic resonance imaging (MRI) evidenced an intramural myocardial scar produced by ethanol ablation. In conclusion, RVEI effectively and safely treated PVC arising from a deep site in the LVS. The scar provoked by chemical damage was well characterized by MRI imaging.

Benzodiazepines and elderly drivers: a comparison of pharmacoepidemiological study designs.

PURPOSE: Contradictory results were published from two studies in the late 1990s about the effects of long half-life benzodiazepine use on the risk of motor vehicle crashes (MVCs) in the elderly. The use of different study designs could explain the differences observed in these studies. METHODS: The results of an unmatched case-control study were compared to those of a case-crossover study using the same prescription claims database to determine whether the current use of benzodiazepines increased the risk of MVCs. RESULTS: There were 5579 cases and 12 911 controls identified between the years 1990 and 1993 in the province of Quebec, Canada. The case-control approach demonstrated an increased rate of injurious MVC associated with the current use of long-acting benzodiazepines [odds ratio (OR) 1.45; 95% confidence interval (CI): 1.12-1.88]. The case-crossover approach applied to all cases did not show any association [OR 0.99; 95%CI: 0.83-1.19]. However, among the cases restricted to subjects with four or less prescriptions filled in the previous year, corresponding more to transient exposures, the OR was elevated [OR 1.53; 95%CI: 1.08-2.16]. CONCLUSIONS: Differences in study design and analysis may explain some of the discrepancies in previous results. Both study designs provide evidence that long-acting benzodiazepines appear to be associated with an increased risk of MVC.