Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study
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SUBMITTER: Awada N
PROVIDER: S-EPMC10910218 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
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Project description:ObjectiveLong-term adherence to evidence-based medications in cardiometabolic diseases remains poor, despite extensive efforts to develop and test interventions and deploy clinician performance incentives. The limited success of interventions may be due to ignored factors such as patients' experience of medication-taking. Despite being potentially addressable by clinicians, these factors have not been sufficiently explored, which is particularly important as patients use increasing numbers of medications. The aim is to explore patient perspectives on medication-taking, medication properties that are barriers to adherence, and coping strategies for their medication regimen.DesignIndividual, in-person, semistructured qualitative interviews.SettingUrban healthcare system.ParticipantsTwenty-six adults taking ≥2 oral medications for diabetes, hypertension or hyperlipidaemia with non-adherence. Interviews were digitally recorded and transcribed. Data were analysed using developed codes to generate themes. Representative quotations were selected to illustrate themes.ResultsParticipants' mean age was 55 years, 46% were female and 39% were non-white. Six key themes were identified: (1) medication-taking viewed as a highly inconvenient action (that patients struggle to remember to do); (2) negative implications because of inconvenience or illness perceptions; (3) actual medication regimens can deviate substantially from prescribed regimens; (4) certain medication properties (especially size and similar appearance with others) may contribute to adherence deviations; (5) development of numerous coping strategies to overcome barriers and (6) suggestions to make medication-taking easier (including reducing drug costs, simplifying regimen or dosing frequency and creating more palatable medications).ConclusionPatients with poor adherence often find taking prescription medications to be undesirable and take them differently than prescribed in part due to properties of the medications themselves and coping strategies they have developed to overcome medication-taking challenges. Interventions that reduce the inconvenience of medication use and tailor medications to individual needs may be a welcome development.
| S-EPMC8609926 | biostudies-literature
Project description:Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively.
| S-EPMC5685203 | biostudies-literature
Project description:ObjectiveTo qualitatively explore the broad set of preferences and attitudes patients have about thyroid nodules, which influence the decision-making process.Study designA descriptive survey design was administered as interviews.SettingOutpatient thyroid surgery clinic.MethodsSemistructured interviews were conducted with 20 patients presenting for initial evaluation of thyroid nodules at a surgeon's office. Probative, open-ended questions were posed regarding diagnosis, treatment, risk attitudes, and the decision-making process. Thematic analysis was used to develop code-transcribed interviews, and an iterative refinement resulted in underlying themes.ResultsDuring the diagnostic process, patients integrated emotional responses (fear, anxiety, and shock) with rationale concerns (likelihood of cancer, risk assessment), and ultimately relied heavily on expert opinion and recommendation. Contextualization with other personal or familial health problems served as helpful touchstones for decision-making. Overtreatment and overdiagnosis were not commonly discussed. When thinking about potential therapies, there was a strong bias to action rather than surveillance among patients. Surgical risk and the possibility of lifelong medication, however, were strong motivators for a subset of patients to seek nonsurgical alternatives.ConclusionPatients describe a decision-making process that incorporates emotional response and rational consideration of risks, contextualized within the personal experience and physician expertise. The bias for action and intervention is strong, and most patients strongly weighted physicians' recommendations. Themes from this qualitative analysis may serve as the backbone for future stated preference research pertaining to thyroid disease.
| S-EPMC10046705 | biostudies-literature
Project description:Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. There are many recognized forms of LSDs and, although individually rare, their combined prevalence is estimated to be 1 in 8000 births. Over two-thirds of LSDs involve central nervous system (CNS) dysfunction (progressive cognitive and motor decline) and these symptoms are often the most debilitating. Although the genetic basis for these disorders is clear and the biochemistry of the proteins well understood, the cellular mechanisms by which deficiencies in these proteins disrupt neuronal viability remain ambiguous. In this review, we provide an overview of the widespread cellular perturbations occurring in LSDs, how they might be linked and interventions that may specifically or globally correct those defects.
| S-EPMC3153126 | biostudies-literature
Project description:BackgroundKetamine has recently received considerable attention regarding its antidepressant and anti-suicidal effects. Trials have generally focused on short-term effects of single intravenous infusions. Research on patient experiences is lacking.AimsTo investigate the experiences over time of individuals receiving ketamine treatment in a routine clinic, including impacts on mood and suicidality.MethodTwelve fee-paying patients with treatment-resistant depression (6 females, 6 males, age 21-70 years; 11 reporting suicidality and 6 reporting self-harm) who were assessed as eligible for ketamine treatment participated in up to three semi-structured interviews: before treatment started, a few weeks into treatment and ≥2 months later. Data were analysed thematically.ResultsMost participants hoped that ketamine would provide respite from their depression. Nearly all experienced improvement in mood following initial treatments, ranging from negligible to dramatic, and eight reported a reduction in suicidality. Improvements were transitory for most participants, although two experienced sustained consistent benefit and two had sustained but limited improvement. Some participants described hopelessness when treatment stopped working, paralleled by increased suicidal ideation for three participants. The transient nature and cost of treatment were problematic. Eleven participants experienced side-effects, which were significant for two participants. Suggestions for improving treatment included closer monitoring and adjunctive psychological therapy.ConclusionsKetamine treatment was generally experienced as effective in improving mood and reducing suicidal ideation in the short term, but the lack of longer-term benefit was challenging for participants, as was treatment cost. Informed consent procedures should refer to the possibilities of relapse and associated increased hopelessness and suicidality.
| S-EPMC7791565 | biostudies-literature
Project description:Providing patients with unrestricted access to their electronic medical records through patient portals has impacted patient-provider communication and patients' personal health knowledge. However, little is known about how patient portals are used in oncology.The aim of this study was to understand attitudes of the portal's adoption for oncology and to identify the advantages and disadvantages of using the portal to communicate and view medical information.In-depth semistructured interviews were conducted with 60 participants: 35 patients, 13 oncologists, and 12 medical informaticists. Interviews were recorded, transcribed, and thematically analyzed to identify critical incidents and general attitudes encountered by participants.Two primary themes were discovered: (1) implementation practices influence attitudes, in which the decision-making and execution process of introducing portals throughout the hospital did not include the input of oncologists. Lack of oncologists' involvement led to a lack of knowledge about portal functionality, such as not knowing the time period when test results would be disclosed to patients; (2) perceptions of portals as communication tools varies by user type, meaning that each participant group (patients, oncologists, and medical informaticists) had varied opinions about how the portal should be used to transmit and receive information. Oncologists and medical informaticists had difficulty understanding one another's culture and communication processes in their fields, while patients had preferences for how they would like to receive communication, but it largely depended upon the type of test being disclosed.The majority of patients (54%, 19/35) who participated in this study viewed lab results or scan reports via the portal before being contacted by a clinician. Most were relatively comfortable with this manner of disclosure but still preferred face-to-face or telephone communication. Findings from this study indicate that portal education is needed for both patients and oncologists, especially when portals are implemented across entire health systems since highly specialized areas of medicine may have unique needs and uses. Patient portals in oncology can potentially alter the way diagnoses are delivered and how patients and oncologists communicate. Therefore, communication about the portal should be established during initial consultations so patients can decide whether they want to be informed in such a manner.
| S-EPMC5891668 | biostudies-other
Project description:A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers. The first group is comprised of those molecules whose accumulation is directly enhanced as a result of defective lysosomal function. These molecules represent the storage of the principal macro-molecular substrate(s) of a specific enzyme or protein, whose function is deficient in the given disease. In the second group of biomarkers, the relationship between the lysosomal defect and the biomarker is indirect. In this group, the biomarker reflects the effects of the primary lysosomal defect on cell, tissue, or organ functions. There is no "gold standard" among biomarkers used to diagnosis and/or monitor LSDs, but there are a number that exist that can be used to reasonably assess and monitor the state of certain organs or functions. A number of biomarkers have been proposed for the analysis of the most important LSDs. In this review, we will summarize the most promising biomarkers in major LSDs and discuss why these are the most promising candidates for screening systems.
| S-EPMC5456325 | biostudies-literature
Project description:BackgroundPhysical inactivity is a major risk factor for developing chronic disease and contributes to health inequalities. Many children and adults do not achieve recommended physical activity targets. Active Families was a pilot programme that aimed to increase physical activity in families in the East Midlands, UK, using volunteer peer mentor support. This study aimed to explore caregiver experiences of family physical activity in participants of the programme Active Families.MethodsQualitative, semi-structured interviews were conducted with 13 caregiver participants of Active Families. Interview transcripts were explored using thematic analysis.ResultsMost caregivers reported increased family physical activity and improvements in health and relationships. Attitudes towards family physical activity became more positive and role modelling encouraged families to be active. Volunteer peer mentors aided families using behaviour change techniques and provided psychological, emotional and practical support. Volunteers maintained programme delivery during the coronavirus pandemic, and exercise was used by some as a coping strategy. Some older children did not engage well with the programme, and maintaining physical activity was a challenge for others.ConclusionCaregivers reported improved experiences of family physical activity, with positive impacts on wellbeing and family life reported. The family-volunteer relationship appeared to be key. Behaviour change techniques and providing holistic support should therefore be considered when designing family physical activity programmes. Further research is needed to understand how best to engage older children in family physical activity and ensuring physical activity is maintained.
| S-EPMC11850952 | biostudies-literature
Project description:BackgroundAs the UK population ages, the prevalence of both dementia and cancer will increase. Family carers of people with dementia who are subsequently diagnosed with cancer are often involved in treatment decisions about cancer. These decisions are uniquely challenging.ObjectivesTo explore the experience of carers involved in cancer treatment decisions for people with dementia.DesignA cross-sectional qualitative interview study with inductive thematic analysis.Setting and participantsSixteen carers of people with dementia were identified via Primary Care Research Networks and the Join Dementia Research database.ResultsThree main themes were derived: 'already at breaking point', which describes the extreme strain that carers were already under when the cancer diagnosis was made; 'maintaining the status quo', which describes how despite the gravity of a cancer diagnosis, avoiding further dementia-related deterioration was of prime importance; and 'LPA', which explores the benefits and frustrations of the use of lasting powers of attorney.DiscussionCurrent services are ill-equipped to deal with people who have a combination of dementia and cancer. Proxy decisions about cancer care are made in the context of carer stress and exhaustion, which is exacerbated by shortcomings in service provision.ConclusionsAs the prevalence of comorbid cancer and dementia rises, there is an urgent need to improve services that support carers with proxy health care decision-making.Patient or public contributionThe study design was codeveloped with a local dementia-specific patient and public involvement (PPI) group. A project-specific PPI group was formed with support from the Alzheimer's Society Research Partnership scheme to provide further bespoke input.
| S-EPMC9122422 | biostudies-literature
Project description:Despite ongoing screening efforts, colorectal cancer (CRC) remains a leading cause of death in Canada. The aim of this study was to better understand the experiences of Canadian CRC patients with their family practitioners (FPs) during and after their CRC diagnosis. Patient-reported data were collected through an online questionnaire to understand their CRC diagnosis experiences and identify potential gaps in care. Various factors contributing to challenges throughout a patient's CRC diagnosis (e.g., delayed CRC diagnosis) were determined using descriptive, qualitative, and inferential analyses. These factors could be targeted to optimize CRC care. This study found that 40.6% of the 175 respondents were unaware of at least one of the following aspects of CRC prior to their diagnosis: early-age onset (EAO), symptoms, and screening procedures. While 84.6% had access to a family physician (FP) before their diagnosis, only 17.7% were diagnosed by FPs. Higher proportions of younger individuals experienced misdiagnoses and felt dismissed compared to older individuals. Only half felt fully informed about their diagnosis when it was explained to them by their FP, while 53.1% had their diagnosis explained in plain language. Transitioning towards patient-centred care would promote pre-diagnosis CRC awareness, address differences in management of CRC care (e.g., dismissal and support), and accommodate for age and health-literacy-related disparities, thereby improving CRC care pathways for patients. Future research should investigate FPs experiences in detecting CRC cases to develop educational resources and recommendations, enhancing early detection and improving patient outcomes (1).
| S-EPMC11202889 | biostudies-literature