A Journey with LGMD: From Protein Abnormalities to Patient Impact.
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ABSTRACT:
SUBMITTER: Georganopoulou DG
PROVIDER: S-EPMC8190568 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND: Fibromyalgia is a painful, debilitating illness with a prevalence of 0.5-5.0% that affects women more than men. It has been shown that the diagnosis of fibromyalgia is associated with improved patient satisfaction and reduced healthcare utilization. This survey examined the patient journey to having their condition diagnosed and studied the impact of the condition on their life. METHODS: A questionnaire survey of 800 patients with fibromyalgia and 1622 physicians in 6 European countries, Mexico and South Korea. Patients were recruited via their physician. RESULTS: Over half the patients (61%) were aged 36-59 years, 84% were women, and the mean time since experiencing fibromyalgia symptoms was 6.5 years. Patients had experienced multiple fibromyalgia symptoms (mean of 7.3 out of 14), with pain, fatigue, sleeping problems and concentration difficulties being the most commonly reported. Most patients rated their chronic widespread pain as moderate or severe and fibromyalgia symptoms were on average "fairly" to "very" disruptive, and had a "moderate" to "strong" impact on patients' lives. 22% were unable to work and 25% were not able to work all the time because of their fibromyalgia. Patients waited on average almost a year after experiencing symptoms before presenting to a physician, and it took an average of 2.3 years and presenting to 3.7 different physicians before receiving a diagnosis of fibromyalgia. Patients rated receiving a diagnosis as somewhat difficult on average and had difficulties communicating their symptoms to the physician. Over one third (35%) felt their chronic widespread pain was not well managed by their current treatment. CONCLUSIONS: This survey provides further evidence that fibromyalgia is characterized by multiple symptoms and has a notable impact on quality of life and function. The diagnosis of fibromyalgia is delayed. Patients wait a significant period of time before presenting to a physician, adding to the prolonged time to diagnosis. Patients typically present with a multitude of symptoms, all resulting in a delay in diagnosis and eventual management. Helping clinicians to diagnose and manage patients with fibromyalgia should benefit both patients and funders of healthcare.
| S-EPMC2874550 | biostudies-literature
Project description:In this study, we highlight patients’ experiences with metal hypersensitivity (MH) after receiving implantable medical devices (IMDs). We aim to identify gaps in clinical care and improve outcomes for individuals who have or may be sensitive to metals. Secondary data analysis from a previous interpretative phenomenological qualitative study was utilized. Using patient journey maps, we explored the experiences of 8 individuals from outpatient settings who received IMD and have first-hand experience with MH. We documented their journey from MH symptom recognition to diagnosis and subsequent IMD management. The results reveal that the time frames from device implantation to the treatment of MH varied from 17 to 228 months. The longest phase on the patient journey maps was the symptom recognition phase, which refers to the time between symptom emergence and MH diagnosis. Participants also required extensive healthcare utilization following their initial surgery. These findings emphasize that MH should be considered in differential diagnoses for patients with IMD. Early screening and detection of MH can enhance patient safety, alleviate distress, and reduce unnecessary healthcare utilization.
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Project description:BackgroundOsteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society.MethodsA systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995-18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist.ResultsOf the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations.ConclusionDespite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.
| S-EPMC9945474 | biostudies-literature
Project description:PURPOSE:To understand how different methodologies of qualitative research are able to capture patient experience of the hospital journey. METHODS:A qualitative study of orthopaedic patients admitted for hip and knee replacement surgery in a 250-bed university hospital was performed. Eight patients were shadowed from the time they entered the hospital to the time of transfer to rehabilitation. Four patients and sixteen professionals, including orthopaedists, head nurses, nurses and administrative staff, were interviewed. RESULTS:Through analysis of the data collected four main themes emerged: the information gap; the covering patient-professionals relationship; the effectiveness of family closeness; and the micro-integration of hospital services. The three different standpoints (patient shadowing, health professionals' interviews and patients' interviews) allowed different issues to be captured in the various phases of the journey. CONCLUSIONS:Hospitals can significantly improve the quality of the service provided by exploring and understanding the individual patient journey. When dealing with a key cross-functional business process, the time-space dynamics of the activities performed have to be considered. Further research in the academic field can explore practical, methodological and ethical challenges more deeply in capturing the whole patient journey experience by using multiple methods and integrated tools.
| S-EPMC6894823 | biostudies-literature
Project description: Not available
| S-EPMC8517949 | biostudies-literature
Project description:BackgroundDigital media are easily accessible without time restrictions and are widely used for health- or disease-related purposes. However, their influence on the patient journey and the patient-physician relationship has not yet been sufficiently investigated.ObjectiveThis qualitative interview study was designed to explore dermatologists' and patients' experiences with digital media for medical purposes in the context of patient journeys and patient-physician relationships.MethodsTwenty-eight semistructured video conference-based interviews were conducted and audiorecorded by experienced interviewers between November 2021 and June 2022 in Germany. Eligible patients were those who were aged ≥18 years, were affected by at least one physician-confirmed skin disease, and were fluent in the German language. The eligibility criterion for dermatologists was that they were currently practicing dermatology in an outpatient setting or in a hospital. Randomly selected dermatologists from the listing of the German National Association of Statutory Health Insurance Physicians and dermatologists from personal academic and professional networks were invited for participation via postal mail and asked to identify potential patient volunteers from their patient bases. All recorded data were pseudonymized, fully transcribed verbatim, and subsequently analyzed according to Mayring's qualitative content analysis by 2 researchers, allowing for both a qualitative interview text analysis and a quantitative assessment of category assignments.ResultsIn total, 28 participants were interviewed: 16 adult patients and 12 dermatologists. Eight main categories emerged as key areas of interest: (1) the search for diagnosis and symptom triggers, (2) preconsultation digital media use, (3) in-depth information and exchange with other patients, (4) self-treatment, (5) patient-physician interaction, (6) roles of dermatologists and patients, (7) patient eHealth literacy, and (8) opportunities and risks. Categories 1 and 2 were only coded for patients; the other categories were coded for both patients and dermatologists. Patients reported searches for diagnosis or treatment options were most frequently (8/16) caused by a mismatch of symptoms and diagnosis or dissatisfaction with current therapies. Concerns regarding a potentially severe diagnosis prompted searches for initial or in-depth information before or after dermatological consultations. However, the large volume of information of varying quality often confused patients, leading dermatologists to assume the role of evaluating information from preinformed patients. Dermatologists generally encouraged the use of digital media, considered teledermatology advantageous, and viewed big data and artificial intelligence as being potentially beneficial, particularly when searching for rare diagnoses. A single, easily accessible, and free-of-charge platform with high quality information in lay language was recommended by the dermatologists and desired by patients.ConclusionsDigital media are widely accepted by both patients and dermatologists and can positively influence both the dermatological patient journey and patient-physician relationship. Digital media may therefore have great potential to improve specialized health care if patients and dermatologists embrace their new roles.
| S-EPMC10559188 | biostudies-literature
Project description:The term 'limb girdle muscular dystrophy' (LGMD) was first used in the seminal paper by Walton and Nattrass in 1954, were they identified LGMD as a separate clinical entity In LGMD description it is pointed out that the category of LGMD most likely comprises a heterogeneous group of disorders. After that the clinical entity was discussed but the LMGD nosography reached a permanent classification during two ENMC workshops held in 1995 and 2017, in the last one an operating definition of LGMD was agreed. This last classification included dystrophies with proximal or distal-proximal presentation with evidence at biopsy of fibre degeneration and splitting, high CK, MRI imaging consistent with degenerative changes, fibro-fatty infiltration present in individuals that reached independent walking ability. To be considered in this group at least two unrelated families should be identified. A review is done of the first genetic characterisation of a number of LGMDs during the late twentieth century and a historical summary is given regarding how these conditions were clinically described and identified, the progresses done from identification of genetic loci, to protein and gene discoveries are reported. The LGMD described on which such historical progresses were done are the recessive calpainopathy (LGMD 2A/R1), dysferlinopathy (LGMD 2B/R2), sarcoglycanopathy (LGMD 2C-2F/R3-R6) types and the dominant type due to TPNO3 variants named transportinopathy (LGMD 1F/D2). Because of new diagnostic techniques such as exome and genome sequencing, it is likely that many other subtypes of LGMD might be identified in the future, however the lesson from the past discoveries can be useful for scientists and clinicians.
| S-EPMC7783424 | biostudies-literature
Project description:IntroductionThe diagnosis and management of atopic dermatitis (AD) is extensively addressed in detailed clinical guidelines. However, the high heterogeneity regarding presentation and progression and the increasingly broad therapeutic landscape suggest a complex real-world scenario, leading to multiple trajectories of AD patients.MethodsUsing a Delphi methodology for assessing the degree of consensus, we explored the views of a panel of dermatologists regarding the patients' trajectory through the diagnosis (block 1), treatment (block 2), and long-term management (block 3) of AD. Based on a systematic search of the literature, a scientific committee prepared a questionnaire of relevant items that were rated on a 10-point scale (from "totally agree" to "totally disagree") by a panel of dermatologists attending patients with AD in the hospital setting. Consensus was established based on predefined rules.ResultsThe final questionnaire included 58 items and was answered by 17 dermatologists. Overall, consensus was reached on 22 items (37.9%), each of which was a consensus for agreement. The consensus rates in blocks 1, 2, and 3 were 22.7%, 19.0%, and 86%, respectively.ConclusionsOur analysis revealed a remarkable lack of consensus on various aspects of the routine diagnosis and treatment of AD. These findings suggest the presence of unmet needs or limited implementation of guidelines for the management of AD and encourage further research to explore the causes of this low consensus on the management of AD in the real-world setting.
| S-EPMC8484426 | biostudies-literature
Project description:ObjectiveThis research describes the clinical pathway and characteristics of two cohorts of patients. The first cohort consists of patients with a confirmed diagnosis of lung cancer while the second consists of patients with a solitary pulmonary nodule (SPN) and no evidence of lung cancer. Linked data from an electronic medical record and the Louisiana Tumor Registry were used in this investigation.Materials and methodsREACHnet is one of 9 clinical research networks (CRNs) in PCORnet®, the National Patient-Centered Clinical Research Network and includes electronic health records for over 8 million patients from multiple partner health systems. Data from Ochsner Health System and Tulane Medical Center were linked to Louisiana Tumor Registry (LTR), a statewide population-based cancer registry, for analysis of patient's clinical pathways between July 2013 and 2017. Patient characteristics and health services utilization rates by cancer stage were reported as frequency distributions. The Kaplan-Meier product limit method was used to estimate the time from index date to diagnosis by stage in lung cancer cohort.ResultsA total of 30,559 potentially eligible patients were identified and 2929 (9.58%) had primary lung cancer. Of these, 1496 (51.1%) were documented in LTR and their clinical pathway to diagnosis was further studied. Time to diagnosis varied significantly by cancer stage. A total of 24,140 patients with an SPN were identified in REACHnet and 15,978 (66.6%) had documented follow up care for 1 year. 1612 (10%) had no evidence of any work up for their SPN. The remaining 14,366 had some evidence of follow up, primarily office visits and additional chest imaging.ConclusionIn both cohorts multiple biopsies were evident in the clinical pathway. Despite clinical workup, 70% of patients in the lung cancer cohort had stage III or IV disease. In the SPN cohort, only 66% were identified as receiving a diagnostic work-up.
| S-EPMC8045203 | biostudies-literature
Project description:IntroductionInsomnia affects daily functioning and overall health, and is thus associated with significant individual, societal, and economic burden. The experience of patients living with insomnia, their perception of the condition, and its impact on their quality of life is not well documented. The objective of this study was to map the patient journey in insomnia and identify unmet needs.MethodsParticipants were individuals with insomnia, and healthcare professionals (HCPs) who treat insomnia, in the United Kingdom, France, Germany, Italy, and Canada. Qualitative interviews (50 patients, 70 HCPs) and a quantitative survey (700 patients, 723 HCPs) were conducted to inform the patient-journey mapping and obtain information on the emotions, perceptions, and experiences of patients and HCPs.ResultsThe patient journey comprises seven phases. The first defines the onset of insomnia symptoms. Phase 2 represents self-initiated behavior change to improve sleep (e.g., sleep hygiene, reducing caffeine, exercise). The next phase is characterized by use of over-the-counter (OTC) treatments, which generally fail to provide lasting relief. Phase 4 describes the first HCP consultation (occurring several months to several years after onset) and typically occurs at a crisis point for the patient; patients may be looking for an immediate solution (e.g., medication), which may not align with their HCP's recommendation. The following stage comprises sleep hygiene/behavioral changes (±OTC treatment) under HCP guidance for many patients, although offering prescription treatments without a sleep hygiene stage under supervision is more common in some countries. Phase 6 describes prescription medication initiation, where patients fluctuate between relief/hopefulness and a sense of failure, while HCPs try to balance the need to provide relief for the patient while maintaining best medical practice and minimizing adverse effects. The final phase (living with long-term insomnia) represents an indefinite period during which sleep issues remain unresolved for many patients, with most of them continuing to use prescription treatments for longer than indicated and creating their own variable, self-managed regimens combining multiple modalities.ConclusionThis patient journey analysis for insomnia revealed seven distinct phases, highlighting different touchpoints where insomnia management could be optimized.
| S-EPMC10497771 | biostudies-literature