Are Patients at the Centre of Care?: A Qualitative Exploration of Myotonic Dystrophy Type 1 (DM1)

Health care for individuals living with myotonic dystrophy (DM1)—an uncommon, life-limiting neurological condition for which there are few treatments—may be challenged by patients’ symptoms including cognitive and behavioral impairments. Is patient-centered care—which incorporates the values, experiences and expertise of patients and their caregivers—feasible or achievable? Uncovering patients’ and their caregivers’ experiences of living with DM1, their health care expectations, and their health care providers’ (HCP) perspectives about care is essential for examining patient-centered care in this population. Therefore, the purpose of this research is to: (1) add patients’ and caregivers’ voices to the literature, (2) explore on-going care provision for individuals with DM1, and (3) probe whether patients’ and caregivers’ needs are being met. Forty-eight participants were purposively sampled from one academic centre in Ontario, Canada to participate in three studies. Phenomenology, photovoice and grounded theory—qualitative methodologies that prioritize participants’ experiences and recognize that researchers and participants co-construct the data—were used to explore patients’, caregivers’ and HCPs’ experiences about living with — or caring for individuals—with DM1. Semi-structured interviews were the primary data collection method; focus groups and photographs were also used in the photovoice study. Data analysis varied by methodology. Patient and caregiver participants’ described that DM1 symptoms—particularly fatigue and weakness— impacted their daily activities and sense of self; however, participants were resilient and problem-solved coping strategies. Patient and caregiver participants’ motivations for clinic attendance evolved along the disease trajectory, but most participants perceived that clinic attendance had tangible benefits. HCPs described that their main role was to provide hope for patients and their families. Most importantly, this research revealed that patient, caregiver and HCP participants described clinic as a ‘safe place’ for patients and caregivers to be understood, and to be empowered to take a proactive role in health care. DM1 participants derived a therapeutic benefit from attending clinic despite providers concerns that patient-centered care was challenged by complex biopsychosocial issues. This research raises questions about whether a physician-led model is the most efficient mode of care provision, or whether other models warrant investigation

Synchronization of weakly perturbed Markov chain oscillators

Rate processes are simple and analytically tractable models for many dynamical systems which switch stochastically between a discrete set of quasi stationary states but they may also approximate continuous processes by coarse grained, symbolic dynamics. In contrast to limit cycle oscillators which are weakly perturbed by noise, the stochasticity in such systems may be strong and more complicated system topologies than the circle can be considered. Here we employ second order, time dependent perturbation theory to derive expressions for the mean frequency and phase diffusion constant of discrete state oscillators coupled or driven through weakly time dependent transition rates. We also describe a method of global control to optimize the response of the mean frequency in complex transition networks.Comment: 16 pages, 7 figure

Noise-Induced Synchronization of a Large Population of Globally Coupled Nonidentical Oscillators

We study a large population of globally coupled phase oscillators subject to common white Gaussian noise and find analytically that the critical coupling strength between oscillators for synchronization transition decreases with an increase in the intensity of common noise. Thus, common noise promotes the onset of synchronization. Our prediction is confirmed by numerical simulations of the phase oscillators as well as of limit-cycle oscillators

Challenges & Strategies for Conducting Qualitative Research with Persons Diagnosed with Rare Movement Disorders

Unique features of Huntington’s disease and young-onset Parkinson’s disease, both neurodegenerative movement disorders, can pose challenges for conducting qualitative research. From the perspectives of two doctoral candidates conducting research with these groups, a number of challenges are presented and discussed alongside strategies for managing such challenges. Challenges are organized according to physical (e.g., movement), psychological (e.g., cognition) and social (e.g., speech impairment) aspects of these diseases. The strategies presented emphasize the importance of ethical reasoning in situations that can arise, as well as the relationships developed with the research participants. Author transparency and ethical reasoning are both important in conducting quality qualitative research. It is hoped that presenting these challenges and strategies will promote greater dialogue on such issues, and help researchers enable more people with rare movement disorders to participate in qualitative research

Ethics, Efficacy, and Decision-making in Animal Research

Few would disagree with the ethical contention that if cruelty to animals is not wrong, then nothing is wrong. In fact, it is not only wrong, but in most states in the us, it is a crime, a felony no less. And yet, intentionally inflicting pain and suffering upon animals, which meets Webster’s definition of cruelty, is routinely countenanced when vivisection (from the Latin vivi, to be alive, and secare, to cut) is performed under license for biomedical research. Deciding to embrace, or reject, or limit animal research demands our best ethical judgment; and it is complicated by factual disputes over the extent to which it benefits human health. Three issues combining facts and ethics need to be considered. First, to what extent does animal research deliver on its promise to improve human health? Second, if the goal of public investment (e.g., tax dollars spent by the National Institute of Health, nih) on animal research is to improve human health, are we getting sufficient return for the billions spent, or might the money be better directed towards human-based research or implementing healthcare interventions of proven efficacy? Third, since opinions about ends justifying means will vary, who should decide if animal research is ethically justified: the scientists who perform it or representatives of the public at large, who pay for it

What Roadkills Did We Miss in a Driving Survey? A Comparison of Driving and Walking Surveys in Baldwin County, Georgia

Accurate estimates of vertebrate road mortalities are necessary prior to the consideration of mitigation measures by resource managers. Due to ease of implementation, driving surveys are more common than walking surveys. From February 2018 to February 2019, two survey methods, driving and walking, were used to monitor a 1.16 km section of Highway 212 in Baldwin County, Georgia. Roadkills were identified and monitored for persistence from sunrise to noon two days a week. Twenty-nine roadkills were recorded over the survey period: 48.3% mammals (14/29), 27.6% herpetofauna (8/29), and 24.1% birds (7/29). Forty-eight percent (14/29) of roadkills were missed by the vehicle survey: 75.0% of herpetofauna, 43.9% of birds, and 35.7% of mammals. Of the roadkills missed, 72.7% (8/14) were located in the roadway compared to the verge. Carcasses smaller than eastern gray squirrel size were more likely missed in the driving survey than those equal to or larger than squirrels (c2=4.36; p=0.04). This study demonstrates that driving surveys miss a significant portion of roadkills and conducting walking surveys separately or in combination with driving surveys is necessary for an accurate estimate of vertebrate road mortality

Ethics, Efficacy, and Decision-making in Animal Research

Few would disagree with the ethical contention that if cruelty to animals is not wrong, then nothing is wrong. In fact, it is not only wrong, but in most states in the us, it is a crime, a felony no less. And yet, intentionally inflicting pain and suffering upon animals, which meets Webster’s definition of cruelty, is routinely countenanced when vivisection (from the Latin vivi, to be alive, and secare, to cut) is performed under license for biomedical research. Deciding to embrace, or reject, or limit animal research demands our best ethical judgment; and it is complicated by factual disputes over the extent to which it benefits human health. Three issues combining facts and ethics need to be considered. First, to what extent does animal research deliver on its promise to improve human health? Second, if the goal of public investment (e.g., tax dollars spent by the National Institute of Health, nih) on animal research is to improve human health, are we getting sufficient return for the billions spent, or might the money be better directed towards human-based research or implementing healthcare interventions of proven efficacy? Third, since opinions about ends justifying means will vary, who should decide if animal research is ethically justified: the scientists who perform it or representatives of the public at large, who pay for it

Sitosterolemia: Twenty Years of Discovery of the Function of \u3ci\u3eABCG5ABCG8\u3c/i\u3e

Sitosterolemia is a lipid disorder characterized by the accumulation of dietary xenosterols in plasma and tissues caused by mutations in either ABCG5 or ABCG8. ABCG5 ABCG8 encodes a pair of ABC half transporters that form a heterodimer (G5G8), which then traffics to the surface of hepatocytes and enterocytes and promotes the secretion of cholesterol and xenosterols into the bile and the intestinal lumen. We review the literature from the initial description of the disease, the discovery of its genetic basis, current therapy, and what has been learned from animal, cellular, and molecular investigations of the transporter in the twenty years since its discovery. The genomic era has revealed that there are far more carriers of loss of function mutations and likely pathogenic variants of ABCG5 ABCG8 than previously thought. The impact of these variants on G5G8 structure and activity are largely unknown. We propose a classification system for ABCG5 ABCG8 mutants based on previously published systems for diseases caused by defects in ABC transporters. This system establishes a framework for the comprehensive analysis of disease-associated variants and their impact on G5G8 structure–function

Why open-ended survey questions are unlikely to support rigorous qualitative insights

Health professions education researchers are increasingly relying on a combination of quantitative and qualitative research methods to explore complex questions in the field. This important and necessary development, however, creates new methodological challenges that can affect both the rigor of the research process and the quality of the findings. One example is qualitatively analyzing free-text responses to survey or assessment instrument questions. In this Invited Commentary, the authors explain why analysis of such responses rarely meets the bar for rigorous qualitative research. While the authors do not discount the potential for free-text responses to enhance quantitative findings or to inspire new research questions, they caution that these responses rarely produce data rich enough to generate robust, stand-alone insights. The authors consider exemplars from health professions education research and propose strategies for treating free-text responses appropriately

Collective Phase Sensitivity

The collective phase response to a macroscopic external perturbation of a population of interacting nonlinear elements exhibiting collective oscillations is formulated for the case of globally-coupled oscillators. The macroscopic phase sensitivity is derived from the microscopic phase sensitivity of the constituent oscillators by a two-step phase reduction. We apply this result to quantify the stability of the macroscopic common-noise induced synchronization of two uncoupled populations of oscillators undergoing coherent collective oscillations.Comment: 6 pages, 3 figure