Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases.
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ABSTRACT:
SUBMITTER: Duong T
PROVIDER: S-EPMC8631528 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundConsensus guidelines are useful to improve clinical decision making. Therefore, the methodological evaluation of these guidelines is of paramount importance. Low quality information may guide to inadequate or harmful clinical decisions.ObjectiveTo evaluate the methodological quality of consensus guidelines published in implant dentistry using a validated methodological instrument.MethodsThe six implant dentistry journals with impact factors were scrutinised for consensus guidelines related to implant dentistry. Two assessors independently selected consensus guidelines, and four assessors independently evaluated their methodological quality using the Appraisal of Guidelines for Research & Evaluation (AGREE) II instrument. Disagreements in the selection and evaluation of guidelines were resolved by consensus. First, the consensus guidelines were analysed alone. Then, systematic reviews conducted to support the guidelines were included in the analysis. Non-parametric statistics for dependent variables (Wilcoxon signed rank test) was used to compare both groups.ResultsOf 258 initially retrieved articles, 27 consensus guidelines were selected. Median scores in four domains (applicability, rigour of development, stakeholder involvement, and editorial independence), expressed as percentages of maximum possible domain scores, were below 50% (median, 26%, 30.70%, 41.70%, and 41.70%, respectively). The consensus guidelines and consensus guidelines + systematic reviews data sets could be compared for 19 guidelines, and the results showed significant improvements in all domain scores (p < 0.05).ConclusionsMethodological improvement of consensus guidelines published in major implant dentistry journals is needed. The findings of the present study may help researchers to better develop consensus guidelines in implant dentistry, which will improve the quality and trust of information needed to make proper clinical decisions.
| S-EPMC5249121 | biostudies-literature
Project description:Objective(1) To identify instruments used to assess quality of life (QoL) in children and adolescents with neuromuscular diseases; (2) To identify the psychometric properties contained in these instruments.MethodsThis is a scoping review in which the electronic databases Embase, Scielo, Scopus, Pubmed and Lilacs were used as well as grey literature. The following terms were used in the search for articles published in the last 10 years: children, adolescents, neuromuscular disease, and quality of life.ResultsIn total, 15 articles were included and evaluated, indicating 7 instruments used to assess QoL (PedsQL™ Inventory 3.0 Neuromuscular Module, the PedsQL™ 4.0, the PedsQL DMD Module, the PedsQL ™ MFS, the SOLE, the KIDSCREEN and the LSI-A). The number of items ranged from 17 to 45. In addition, 6 instruments showed psychometric properties, but only 2 showed good and high quality, either in internal reliability or reproducibility.ConclusionOur results were able to map the main QoL assessment instruments of children and adolescents with neuromuscular disease and the most cited instrument was the PedsQL™ Inventory 3.0 Neuromuscular Module. Larger studies that assess psychometric properties and that are validated for most diseases are needed.
| S-EPMC10870459 | biostudies-literature
Project description:IntroductionCerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standards and guidelines to minimize the risk of complications, such as post-LP headache or back pain.MethodsWe provide consensus guidelines for the LP procedure to minimize the risk of complications. The recommendations are based on (1) data from a large multicenter LP feasibility study (evidence level II-2), (2) systematic literature review on LP needle characteristics and post-LP complications (evidence level II-2), (3) discussion of best practice within the Joint Programme Neurodegenerative Disease Research Biomarkers for Alzheimer's disease and Parkinson's Disease and Biomarkers for Multiple Sclerosis consortia (evidence level III).ResultsOur consensus guidelines address contraindications, as well as patient-related and procedure-related risk factors that can influence the development of post-LP complications.DiscussionWhen an LP is performed correctly, the procedure is well tolerated and accepted with a low complication rate.
| S-EPMC5454085 | biostudies-literature
Project description:Background and purposeThe Individualized Neuromuscular Quality of Life questionnaire (INQoL) is a widely used measure of the quality of life in patients with neuromuscular diseases. The purpose of this study was to translate and validate the Korean version of INQoL in Korean patients with neuromuscular diseases.MethodsWe translated the original INQoL version into Korean while applying appropriate language adaptations. The internal consistency, known-group validity, and test-retest reliability were also assessed. Construct validity was measured using the modified Rankin Scale (mRS) score and the manual muscle testing (MMT)-sum score based on the Medical Research Council scale, and concurrent validity was measured using the 36-item Short Form Survey (SF-36) questionnaire.ResultsThis study enrolled 193 patients. The coefficients for internal consistency (Cronbach's α=0.805 to 0.987) and test-retest reliability (Spearman's ρ=0.453 to 0.886) were adequately high for all subscales except in the 'treatment effects' dimension. INQoL subscales other than those for locking, droopy eyelids, double vision, and swallowing difficulties were significantly associated with their relevant SF-36 domains (Spearman's ρ=-0.274 to -0.833). Functional status and muscle strength were most strongly associated with independence (Spearman's ρ=0.753 and p<0.001 for mRS score, Spearman's ρ=-0.741 and p<0.001 for MMT-sum score).ConclusionsThe Korean INQoL is a reliable and validated measurement tool for Korean patients with neuromuscular diseases.
| S-EPMC9444564 | biostudies-literature
Project description:BackgroundParticipation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics. However, directives on the minimal frequency of participation in genetic quality control schemes are lacking or too heterogeneous, with a possible impact on health care quality.ObjectiveThe aim of this project is to develop Belgian guidelines on the frequency of participation in quality controls for genetic testing in the context of rare diseases.MethodsA group of experts analyzed 90 EQA schemes offered by accredited providers and focused on analyses used for the diagnosis of rare diseases. On that basis, the experts developed practical recommendations about the minimal frequencies of participation of the Medical Centers of Human Genetics in quality controls and how to deal with poor performances and change management. These guidelines were submitted to the Belgian Accreditation Body and then reviewed and approved by the Belgian College of Human Genetics and Rare Diseases and by the National Institute for Health and Disability Insurance.ResultsThe guidelines offer a decisional algorithm for the minimal frequency of participation in human genetics EQA schemes. This algorithm has been developed taking into account the scopes of the EQA schemes, the levels of experience, and the annual volumes of the Centers of Human Genetics in the performance of the tests considered. They include three key principles: (1) the recommended annual assessment of all genetic techniques and technological platforms, if possible through EQAs covering the technique, genotyping, and clinical interpretation; (2) the triennial assessment of the genotyping and interpretation of specific germline mutations and pharmacogenomics analyses; and (3) the documentation of actions undertaken in the case of poor performances and the participation to quality control the following year. The use of a Bayesian statistical model has been proposed to help the Centers of Human Genetics to determine the theoretical number of tests that should be annually performed to achieve a certain threshold of performance (eg, a maximal error rate of 1%). Besides, the guidelines insist on the role and responsibility of the national public health authorities in the follow-up of the quality of analyses performed by the Medical Centers of Human Genetics and in demonstrating the cost-effectiveness and rationalization of participation frequency in these quality controls.ConclusionsThese guidelines have been developed based on the analysis of a large panel of EQA schemes and data collected from the Belgian Medical Centers of Human Genetics. They are applicable to other countries and will facilitate and improve the quality management and financing systems of the Medical Centers of Human Genetics.
| S-EPMC8314149 | biostudies-literature
Project description:Model quality assessment (MQA) is an integral part of protein structure prediction methods that typically generate multiple candidate models. The challenge lies in ranking and selecting the best models using a variety of physical, knowledge-based, and geometric consensus (GC)-based scoring functions. In particular, 3D-Jury and related GC methods assume that well-predicted (sub-)structures are more likely to occur frequently in a population of candidate models, compared to incorrectly folded fragments. While this approach is very successful in the context of diversified sets of models, identifying similar substructures is computationally expensive since all pairs of models need to be superimposed using MaxSub or related heuristics for structure-to-structure alignment. Here, we consider a fast alternative, in which structural similarity is assessed using 1D profiles, e.g., consisting of relative solvent accessibilities and secondary structures of equivalent amino acid residues in the respective models. We show that the new approach, dubbed 1D-Jury, allows to implicitly compare and rank N models in O(N) time, as opposed to quadratic complexity of 3D-Jury and related clustering-based methods. In addition, 1D-Jury avoids computationally expensive 3D superposition of pairs of models. At the same time, structural similarity scores based on 1D profiles are shown to correlate strongly with those obtained using MaxSub. In terms of the ability to select the best models as top candidates 1D-Jury performs on par with other GC methods. Other potential applications of the new approach, including fast clustering of large numbers of intermediate structures generated by folding simulations, are discussed as well.
| S-EPMC3228594 | biostudies-literature
Project description:IntroductionThe optimal time to discontinue patients from mechanical ventilation is critical as premature discontinuation as well as delayed weaning can result in complications. The literature on diaphragm function assessment during the weaning process in the intriguing subpopulation of critically ill neuromuscular disease patients is lacking.MethodsPatients with neuromuscular diseases, on mechanical ventilation for more than 7 days, and who were ready for weaning were studied. During multiple T-piece trials over days, diaphragm function using ultrasound and diaphragm electrical activity (Edi peaks using NAVA catheter) was measured every 30 min till a successful 2 h weaning.ResultsA total of 18 patients were screened for eligibility over 5-month period and eight patients fulfilled the inclusion criteria. Sixty-three data points in these 8 subjects were available for analysis. A successful breathing trial was predicted by Edi reduction (1.22 μV for every 30 min increase in weaning duration; 0.69 μV for every day of weaning) and increase in diaphragm excursion (2.81 mm for every 30 min increase in weaning duration; 2.18 mm for every day of weaning).ConclusionThe Edi and diaphragm excursion changes can be used as additional objective tools in the decision-making of the weaning trials in neuromuscular disease.
| S-EPMC7673684 | biostudies-literature
Project description:BackgroundPosthepatectomy liver failure (PHLF) contributes significantly to morbidity and mortality after liver surgery. Standardized assessment of preoperative liver function is crucial to identify patients at risk. These European consensus guidelines provide guidance for preoperative patient assessment.MethodsA modified Delphi approach was used to achieve consensus. The expert panel consisted of hepatobiliary surgeons, radiologists, nuclear medicine specialists, and hepatologists. The guideline process was supervised by a methodologist and reviewed by a patient representative. A systematic literature search was performed in PubMed/MEDLINE, the Cochrane library, and the WHO International Clinical Trials Registry. Evidence assessment and statement development followed Scottish Intercollegiate Guidelines Network methodology.ResultsBased on 271 publications covering 4 key areas, 21 statements (at least 85 per cent agreement) were produced (median level of evidence 2- to 2+). Only a few systematic reviews (2++) and one RCT (1+) were identified. Preoperative liver function assessment should be considered before complex resections, and in patients with suspected or known underlying liver disease, or chemotherapy-associated or drug-induced liver injury. Clinical assessment and blood-based scores reflecting liver function or portal hypertension (for example albumin/bilirubin, platelet count) aid in identifying risk of PHLF. Volumetry of the future liver remnant represents the foundation for assessment, and can be combined with indocyanine green clearance or LiMAx® according to local expertise and availability. Functional MRI and liver scintigraphy are alternatives, combining FLR volume and function in one examination.ConclusionThese guidelines reflect established methods to assess preoperative liver function and PHLF risk, and have uncovered evidence gaps of interest for future research.
| S-EPMC10480040 | biostudies-literature
Project description:MotivationThe development of cost-effective next-generation sequencing methods has spurred the development of high-throughput bioinformatics tools for detection of sequence variation. With many disparate variant-calling algorithms available, investigators must ask, 'Which method is best for my data?' Machine learning research has shown that so-called ensemble methods that combine the output of multiple models can dramatically improve classifier performance. Here we describe a novel variant-calling approach based on an ensemble of variant-calling algorithms, which we term the Consensus Genotyper for Exome Sequencing (CGES). CGES uses a two-stage voting scheme among four algorithm implementations. While our ensemble method can accept variants generated by any variant-calling algorithm, we used GATK2.8, SAMtools, FreeBayes and Atlas-SNP2 in building CGES because of their performance, widespread adoption and diverse but complementary algorithms.ResultsWe apply CGES to 132 samples sequenced at the Hudson Alpha Institute for Biotechnology (HAIB, Huntsville, AL) using the Nimblegen Exome Capture and Illumina sequencing technology. Our sample set consisted of 40 complete trios, two families of four, one parent-child duo and two unrelated individuals. CGES yielded the fewest total variant calls (N(CGES) = 139° 897), the highest Ts/Tv ratio (3.02), the lowest Mendelian error rate across all genotypes (0.028%), the highest rediscovery rate from the Exome Variant Server (EVS; 89.3%) and 1000 Genomes (1KG; 84.1%) and the highest positive predictive value (PPV; 96.1%) for a random sample of previously validated de novo variants. We describe these and other quality control (QC) metrics from consensus data and explain how the CGES pipeline can be used to generate call sets of varying quality stringency, including consensus calls present across all four algorithms, calls that are consistent across any three out of four algorithms, calls that are consistent across any two out of four algorithms or a more liberal set of all calls made by any algorithm.Availability and implementationTo enable accessible, efficient and reproducible analysis, we implement CGES both as a stand-alone command line tool available for download in GitHub and as a set of Galaxy tools and workflows configured to execute on parallel computers.Supplementary informationSupplementary data are available at Bioinformatics online.
| S-EPMC4287941 | biostudies-literature
Project description:BACKGROUND:Migrants may carry with them communicable and non communicable diseases as they move to the host country. Screening migrants may help in improving their health status and in preventing the spread of infections to the host population. OBJECTIVE:To identify and assess the quality of published practice guidelines addressing migrants' health. METHODS:We included practice guidelines addressing migrants' health at the clinical, public health or health systems levels. We searched Medline, Embase, the National Guideline Clearinghouse and the Canadian Medical Association's Clinical Practice Guidelines Database. Two teams of two reviewers conducted in duplicate and independent manner study selection, data abstraction, assessment of the guideline quality (using the AGREE II instrument), and assessment of the quality of the reporting (using the RIGHT statement). RESULTS:Out of 2732 citations captured by the electronic search, we included 24 eligible practice guidelines, all addressing the level of post-arrival to the host country and published between 2011 and 2017. The majority of guidelines (57%) addressed non-communicable diseases, 95% addressed screening, while 52% addressed prevention and treatment respectively. The majority of the guidelines reported their funding sources. 86% used the GRADE approach as part of the development process. The included guidelines scored high on the majority of the items, and low on the following two domains of the AGREE II instrument: rigor of development and applicability. The mean number of the RIGHT checklist items met by the included guidelines was 27, out of a total of 35. Most of the guidelines were based on systematic reviews (95.6%). A minority of the included guidelines (26%) reported considering the values and preferences of the target populations or the costs and resource implications (30%) in the formulation of recommendations. CONCLUSION:We identified 23 practice guidelines addressing migrants' health, the majority of which addressed screening services. The vast majority of the captured guidelines targeted screening because the population of interest is migrants, meaning that the intention of the guidelines is to deal with additional factors than usual ones, such as prevalence of disease in country of origin, endemic diseases and others. The guidelines suffered limitations on two quality domains (rigor of development and applicability), and have room for improvement of their reporting.
| S-EPMC7204216 | biostudies-literature