Dataset Information

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

ABSTRACT: BACKGROUND:Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients. RESULTS:We discuss strategies to prepare for and manage critical clinical situations in adult patients with MPS, including supporting the multidisciplinary team, preoperative and airway assessments, surgical preparations, and postoperative care. We also present eight critical clinical cases (age range: 21-38?years) from four leading inherited metabolic disease centres in Europe to highlight challenges and practical solutions to optimise the care of adult patients with MPS. Critical clinical situations included surgical procedures, pregnancy and a thrombus in a port-a-cath. CONCLUSIONS:Individualised strategies to manage critical clinical situations need to be developed for each patient to compensate for the heterogeneous symptoms that may be present and the potential complications that may occur. These strategies should include input from the wider MDT, and be coordinated by metabolic specialists with expertise in the management of MPS disorders and surgery in adult patients with MPS.

SUBMITTER: Stepien KM

PROVIDER: S-EPMC7227065 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

Stepien Karolina M KM Gevorkyan Anait K AK Hendriksz Christian J CJ Lobzhanidze Tinatin V TV Pérez-López Jordi J Tol Govind G Del Toro Riera Mireia M Vashakmadze Nato D ND Lampe Christina C

Orphanet journal of rare diseases 20200514 1

<h4>Background</h4>Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this can result in a range of critical clinical situations in adult patients.<h4>Results</h4>We discuss strategies ...[more]

PMID: 32410642

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Project description:BackgroundMucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations with varying degrees of severity. Disease-modifying therapies exist to treat some types of MPS; however, they are not curative, underscoring the need to identify and evaluate co-interventions that optimize functioning, participation in preferred activities, and quality of life. A Canadian pediatric MPS registry is under development and may serve as a platform to launch randomized controlled trials to evaluate such interventions. To promote the standardized collection of patient/family-reported and clinical outcomes considered important to patients/families, health care providers (HCPs), and policymakers, the choice of outcomes to include in the registry will be informed by a core outcome set (COS). We aim to establish a patient-oriented COS for pediatric MPS using a multi-stakeholder approach.MethodsIn step 1 of the six-step process to develop the COS, we will identify relevant outcomes through a rapid literature review and candidate outcomes survey. A two-phase screening approach will be implemented to identify eligible publications, followed by extraction of outcomes and other pre-specified data elements. Simultaneously, we will conduct a candidate outcomes survey with children with MPS and their families to identify outcomes most important to them. In step 2, HCPs experienced in treating patients with MPS will be invited to review the list of outcomes generated in step 1 and identify additional clinically relevant outcomes. We will then ask patients/families, HCPs, and policymakers to rate the outcomes in a set of Delphi Surveys (step 3), and to participate in a subsequent consensus meeting to finalize the COS (step 4). Step 5 involves establishing a set of outcome measurement instruments for the COS. Finally, we will disseminate the COS to knowledge users (step 6).DiscussionThe proposed COS will inform the choice of outcomes to include in the MPS registry and, more broadly, promote the standardized collection of patient-oriented outcomes for pediatric MPS research. By involving patients/families from the earliest stage of the research, we will ensure that the COS will be relevant to those who will ultimately benefit from the research.Trial registrationPROSPERO CRD42021267531 , COMET.

Project description:BackgroundCognitive ergonomics design of patient monitoring may reduce human factor errors in high-stress environments. Eye-tracking is a suitable tool to gain insight into the distribution of visual attention of healthcare professionals with patient monitors, which may facilitate their further development.MethodsThis prospective, exploratory, high-fidelity simulation study compared anesthesia personnel's visual attention (fixation count and dwell-time) to 15 areas of interest on the patient monitor during non-critical and critical anesthesia situations. Furthermore, we examined the extent to which participants' experience influenced visual attention and which vital signs displayed on the patient monitor received the most visual attention. We used mixed zero-inflated Poisson regression and mixed linear models to analyze the data.ResultsAnalyzing 23 ten-minute scenarios, we found significantly more fixations to the areas of interest on the patient monitor during critical than non-critical situations (rate ratio of 1.45; 95% CI 1.33 to 1.59; p < 0.001). However, the dwell-time on the areas of interest did not significantly differ between the non-critical and critical situations (coefficient of - 1.667; 95% CI - 4.549 to 1.229; p = 0.27). The professional experience did not significantly influence the visual attention (fixation: rate ratio of 0.88; 95% CI 0.54 to 1.43; p = 0.61 and dwell-time: coefficient of 0.889; 95% CI - 1.465 to 3.229; p = 0.27). Over all situations, anesthesia personnel paid the most attention to the vital signs blood pressure (fixation: mean [SD] of 108 [74.83]; dwell-time: mean [SD] of 27 [15.90] seconds), end-expiratory carbon dioxide (fixation: mean [SD] of 59 [47.39]; dwell-time: mean [SD] of 30 [21.51] seconds), and the electrocardiogram (fixation: mean [SD] of 58 [64.70]; dwell-time: mean [SD] of 15 [14.95] seconds).ConclusionsCritical anesthesia situations increased anesthesia personnel's visual interaction with the patient monitor. Furthermore, we found that their visual attention focused mainly on a few vital signs. To assist clinicians in critical situations, manufacturers should optimize monitors to convey necessary information as easily and quickly as possible and optimize the visibility of less frequently observed but equally critical vital signs, especially when they are in an abnormal range.

Dataset Information

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

Publications

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

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