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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, TNF?-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 TNF?-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 TNF?-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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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:BackgroundHemophilic ankle arthropathy is manifested by degenerative functional alterations and chronic pain. Myofascial release techniques are used to treat soft tissue adhesions, relieve pain, and reduce tissue sensitivity.ObjectiveThis study aims to evaluate the safety and efficacy of a protocol using self-myofascial release with a foam roller to be applied in patients with hemophilic ankle arthropathy.MethodsPatients with ankle arthropathy (N=70) will be recruited, enrolled, and assigned to one of two groups-experimental or control-in a 1:1 allocation ratio. Patients will be recruited from 5 centers in different regions of Spain. Patient data will be collected at baseline, posttreatment, and follow-up. The primary outcome will be frequency of ankle joint bleeding (self-reported). The secondary outcomes will be ankle range of motion (measured with a digital goniometer); joint pain (measured with a visual analog scale and an algometer); joint status (measured using the Hemophilia Joint Health Score); muscle strength (measured with a dynamometer); functionality of lower limbs (measured using the 6-minute walking test); activity (self-reported); and muscle flexibility (measured using the fingertip-to-floor test). The treatment program includes 11 exercises that must be administered bilaterally. A mobile app will be developed where each patient will be able to observe the exercises to be carried out. Each session will last 15 minutes with 5 physiotherapy sessions per week for a period of 3 months. It is expected that patients with hemophilia who receive the foam roller intervention will show improvement in mobility, pain, and status of the ankle joint; muscle strength; and function in the lower extremities.ResultsThe study has been approved by the institutional review board of the University of Murcia. Patient recruitment will begin in September 2020, and the intervention period will last until June 2021. Data collection will take place between September 2020 and October 2021.ConclusionsThis protocol describes a randomized clinical trial to examine the safety and efficacy of a self-myofascial release intervention using a foam roller in patients with hemophilic ankle arthropathy.Trial registrationClinicalTrials.gov NCT03914287; http://clinicaltrials.gov/ct2/show/NCT03914287.International registered report identifier (irrid)PRR1-10.2196/15612.

Dataset Information

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

Publications

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

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