Dataset Information

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

ABSTRACT:

Background

The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.

Methods

Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα-308G>A and -238G>A, ACAN VNTR, and IL1RN*2-VNTR were identified.

Results

Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα-308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041).

Conclusions

The distribution of risk genotypes for MTHFR and TNFα-308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.

SUBMITTER: Lopez-Jimenez JJ

PROVIDER: S-EPMC6825867 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Publications

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

López-Jiménez José de Jesús JJ Ortega-Cervantes Ricardo R Luna-Záizar Hilda H Fletes-Rayas Ana-Lilia AL Beltrán-Miranda Claudia-Patricia CP Troyo-Sanromán Rogelio R Soto-Padilla Janet J Tlacuilo-Parra Alberto A Jaloma-Cruz Ana-Rebeca AR

Molecular genetics & genomic medicine 20190930 11

<h4>Background</h4>The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.<h4>Methods</h4>Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and ...[more]

PMID: 31566926

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Project description:BackgroundJoint bleeds are the hallmark of hemophilia, leading to a painful arthritic condition called as hemophilic arthropathy (HA). Exercise programs are frequently used to improve the physical functioning in persons with HA. As hemophilia is a rare disease, there are not many physiotherapists who are experienced in the field of hemophilia, and regular physiotherapy sessions with an experienced physiotherapist in the field of hemophilia are not feasible for persons with HA. Blended care is an innovative intervention that can support persons with HA at home to perform the advised physical activities and exercises and provide self-management information.ObjectiveThe aim of this study was to develop a blended physiotherapy intervention for persons with HA.MethodsThe blended physiotherapy intervention, namely, e-Exercise HA was developed by cocreation with physiotherapists, persons with HA, software developers, and researchers. The content of e-Exercise HA was compiled using the first 3 steps of the Center for eHealth Research roadmap model (ie, contextual inquiry, value specification, and design), including people with experience in the development of previous blended physiotherapy interventions, a literature search, and focus groups.ResultsA 12-week blended intervention was developed, integrating face-to-face physiotherapy sessions with a web-based app. The intervention consists of information modules for persons with HA and information modules for physiotherapists, a graded activity program using a self-chosen activity, and personalized video-supported exercises. The information modules consist of text blocks, videos, and reflective questions. The patients can receive pop-ups as reminders and give feedback on the performance of the prescribed activities.ConclusionsIn this study, we developed a blended physiotherapy intervention for persons with HA, which consists of information modules, a graded activity program, and personalized video-supported exercises.

Dataset Information

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

Background

Methods

Results

Conclusions

Publications

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

Similar Datasets

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