Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
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ABSTRACT: Background
Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.Aim
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify 'at-risk' patients who may benefit from diagnostic testing.Methods
An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managing almost 3000 patients). The rounds entailed data gathering, then importance ranking and establishment of consensus, using 5-point Likert scales and scoring thresholds defined a priori.Results
For type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone-related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co-variables (family history of GD and Ashkenazi-Jewish ancestry) were identified. For type 3 disease, nine major signs (splenomegaly, oculomotor disturbances, thrombocytopenia, epilepsy, anaemia, hepatomegaly, bone pain, motor disturbances and kyphosis) and one major co-variable (family history of GD) were identified. Lack of disease awareness, overlooking mild early signs and failure to consider GD as a diagnostic differential were considered major barriers to early diagnosis.Conclusion
The signs and co-variables identified in the GED-C initiative as potentially indicative of early GD will help to guide non-specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.
SUBMITTER: Mehta A
PROVIDER: S-EPMC6852187 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:ObjectiveThe Outcomes and Assessment Committee at the Virginia Commonwealth University School of Pharmacy was tasked with refining the school's key performance indicators (KPIs) to improve programmatic assessment by focusing on the most important measures.MethodsInitially, 56 KPIs were tracked, nine of which were university mandated, divided into 10 modules: admissions, community outreach, continuing education, diversity, faculty experience and success, fundraising, graduate program, research and scholarship, staff experience and success, and student experience and success. Using a three-round Delphi consensus technique, KPIs were reviewed by faculty and staff. Each participant responded whether they considered each KPI to be essential or not essential for school quality assessment and improvement. Consensus for the first, second, and third rounds was defined as ≥90%, ≥80%, and ≥75% agreement, respectively.ResultsOf 109 faculty and staff invited, 49 participated in the first round, 51 in the second, and 42 in the third. At the end of the third round, accumulated consensus was achieved for 35 out of 88 (39.8%) KPIs that were considered essential and 3 out of 88 (3.4%) that were considered non-essential. Consensus percentage per module was: 15.4% (2/13) admissions, 28.6% (2/7) community outreach, 33.3% (3/9) continuing education, 27.3% (3/11) diversity, 62.5% (5/8) faculty experience and success, 55.6% (5/9) fundraising, 40% (4/10) graduate program, 33.3% (3/9) research and scholarship, 57.1% (4/7) staff experience and success, and 66.7% (4/6) student experience and success.ConclusionsUltimately, 35 KPIs achieved consensus as essential to measure achievement of benchmarks for the school, which totals 44 KPIs, including nine university mandated KPIs. The process facilitated faculty and staff involvement in KPI selection and achieved improved focus for programmatic assessment.
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Project description:ObjectiveTo describe the presenting signs, concurrent conditions, treatment and outcome of dogs with metaphyseal osteopathy.Materials and methodsMulti-centre retrospective review of medical records from January 2009 to September 2018 at four referral centres to identify dogs with a radiographic diagnosis of metaphyseal osteopathy.ResultsThirty-nine dogs were identified. The median age at onset was 14 weeks old (range, 8 to 32 weeks old). There was a higher proportion of male dogs (29 of 39 male entire, nine of 39 female entire, one of 39 female neutered and no male neutered dogs). Where information was available, median time from the most recent vaccination was 20 days (range, 2 to 144 days). The most commonly recorded clinical signs were pyrexia (34 of 39), lethargy (32 of 39), pain (30 of 39), and being non-ambulatory (17 of 39). Thirty-five dogs required hospitalisation for analgesia and supportive care, 19 of 39 were discharged on prednisolone (median dose 2.0 mg/kg/day; range, 0.9 to 2.6 mg/kg/day), 18 of 39 were discharged on non-steroidal anti-inflammatories, two of 39 did not receive NSAIDs or prednisolone at any time point. The median duration of hospitalisation for those admitted was 5 days (range, 1 to 21 days). Where follow-up was available, relapse occurred in eight of 25 cases before reaching skeletal maturity. At the time of metaphyseal osteopathy diagnosis, five of 39 cases had concurrent conditions. Where follow-up was available, four of 25 developed future immune-mediated conditions.Clinical significanceMetaphyseal osteopathy should be considered in non-ambulatory painful young dogs. Some dogs developed future immune-mediated conditions, which may support the hypothesis that metaphyseal osteopathy is an autoinflammatory bone disorder. Further studies with a larger cohort are required to determine the clinical significance of this.
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Project description:Shared decision-making about clinical care options in end-stage kidney disease is limited by inconsistencies in the reporting of outcomes and the omission of patient-important outcomes in trials. Here we generated a consensus-based prioritized list of outcomes to be reported during trials in peritoneal dialysis (PD). In an international, online, three-round Delphi survey, patients/caregivers and health professionals rated the importance of outcomes using a 9-point Likert scale (with 7-9 indicating critical importance) and provided comments. Using a Best-Worst Scale (BWS), the relative importance of outcomes was estimated. Comments were analyzed thematically. In total, 873 participants (207 patients/caregivers and 666 health professionals) from 68 countries completed round one, 629 completed round two and 530 completed round three. The top outcomes were PD-related infection, membrane function, peritoneal dialysis failure, cardiovascular disease, death, catheter complications, and the ability to do usual activities. Compared with health professionals, patients/caregivers gave higher priority to six outcomes: blood pressure (mean difference, 0.4), fatigue (0.3), membrane function (0.3), impact on family/friends (0.1), peritoneal thickening (0.1) and usual activities (0.1). Four themes were identified that underpinned the reasons for ratings: contributing to treatment longevity, preserving quality of life, escalating morbidity, and irrelevant and futile information and treatment. Patients/caregivers and health professionals gave highest priority to clinical outcomes. In contrast to health professionals, patients/caregivers gave higher priority to lifestyle-related outcomes including the impact on family/friends and usual activities. Thus, prioritization will inform a core outcome set to improve the consistency and relevance of outcomes for trials in PD.
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Project description:Introduction: Outcome measures are key to tailor rehabilitation goals to the stroke patient's individual needs and to monitor poststroke recovery. The large number of available outcome measures leads to high variability in clinical use. Currently, an internationally agreed core set of motor outcome measures for clinical application is lacking. Therefore, the goal was to develop such a set to serve as a quality standard in clinical motor rehabilitation poststroke. Methods: Outcome measures for the upper and lower extremities, and activities of daily living (ADL)/stroke-specific outcomes were identified and presented to stroke rehabilitation experts in an electronic Delphi study. In round 1, clinical feasibility and relevance of the outcome measures were rated on a 7-point Likert scale. In round 2, those rated at least as "relevant" and "feasible" were ranked within the body functions, activities, and participation domains of the International Classification of Functioning, Disability, and Health (ICF). Furthermore, measurement time points poststroke were indicated. In round 3, answers were reviewed in reference to overall results to reach final consensus. Results: In total, 119 outcome measures were presented to 33 experts from 18 countries. The recommended core set includes the Fugl-Meyer Motor Assessment and Action Research Arm Test for the upper extremity section; the Fugl-Meyer Motor Assessment, 10-m Walk Test, Timed-Up-and-Go, and Berg Balance Scale for the lower extremity section; and the National Institutes of Health Stroke Scale, and Barthel Index or Functional Independence Measure for the ADL/stroke-specific section. The Stroke Impact Scale was recommended spanning all ICF domains. Recommended measurement time points are days 2 ± 1 and 7; weeks 2, 4, and 12; 6 months poststroke and every following 6th month. Discussion and Conclusion: Agreement was found upon a set of nine outcome measures for application in clinical motor rehabilitation poststroke, with seven measurement time points following the stages of poststroke recovery. This core set was specifically developed for clinical practice and distinguishes itself from initiatives for stroke rehabilitation research. The next challenge is to implement this clinical core set across the full stroke care continuum with the aim to improve the transparency, comparability, and quality of stroke rehabilitation at a regional, national, and international level.
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Project description:ObjectivesVisual impairment following stroke is common with a reported incidence of visual impairment in 60% of stroke survivors. Screening for visual impairment is neither routine nor standardised. This results in a health inequality where some stroke survivors receive comprehensive vision assessment to identify any existent visual problems while others receive no vision assessment leaving them with unmet needs from undiagnosed visual problems. The aim of this study was to define two core outcome sets (COS), one for vision screening and one for full visual assessment of stroke survivors.DesignA list of potentially relevant visual assessments was created from a review of the literature. The consensus process consisted of an online 3-round Delphi survey followed by a consensus meeting of the key stakeholders.ParticipantsStakeholders included orthoptists, occupational therapists, ophthalmologists, stroke survivors and COS users such as researchers, journal editors and guideline developers.SettingUniversity.Outcome measuresCOS.ResultsFollowing the consensus process we recommend the following nine assessments for vision screening: case history, clinical observations of visual signs, visual acuity, eye alignment position, eye movement assessment, visual field assessment, visual neglect assessment, functional vision assessment and reading assessment. We recommend the following 11 assessments for full vision assessment: case history, observations, visual acuity, eye alignment position, eye movement assessment, binocular vision assessment, eye position measurement, visual field assessment, visual neglect assessment, functional vision assessment, reading assessment and quality of life questionnaires.ConclusionsCOS are defined for vision screening and full vision assessment for stroke survivors. There is potential for their use in reducing heterogeneity in routine clinical practice and for improving standardisation and accuracy of vision assessment. Future research is required to evaluate the use of these COS and for further exploration of core outcome measures.
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