Search results for "hemophilia"

showing 4 items of 94 documents

Post-synoviorthesis rehabilitation in haemophilia.

2001

The efficacy of radiosynoviorthesis in the management of chronic haemophilic synovitis has been proven. Like replacement therapy, however, this procedure has no effect on muscle strength or endurance, range of movement, coordination, or the patient's physical condition in general. All the factors just enumerated are essential for the recovery and maintenance of the haemophiliac's quality of life. That is why rehabilitation and physiotherapy are so important, since no medical therapy or surgical procedure are by themselves capable of preventing disabilities.

medicine.medical_specialtymedicine.medical_treatmentRange of movementHaemophiliaHemophilia AQuality of lifeSynovitisHemarthrosismedicineHumansRange of Motion ArticularGenetics (clinical)Physical Therapy ModalitiesRehabilitationSynovitisbusiness.industryHematologyGeneral Medicinemedicine.diseaseMusculoskeletal ManipulationsPractice Guidelines as TopicPhysical therapyMuscle strengthJoint DiseasesRange of motionbusinessMedical therapyMuscle ContractionHaemophilia : the official journal of the World Federation of Hemophilia
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F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

2022

Background Circulating dysfunctional factor IX (FIX) might modulate distribution of infused FIX in hemophilia B (HB) patients. Recurrent substitutions at FIX activation sites (R191-R226, >300 patients) are associated with variable FIX activity and antigen (FIXag) levels. Objectives To investigate the (1) expression of a complete panel of missense mutations at FIX activation sites and (2) contribution of F9 genotypes on the FIX pharmacokinetics (PK). Methods We checked FIX activity and antigen and activity assays in plasma and after recombinant expression of FIX variants and performed an analysis of infused FIX PK parameters in patients (n = 30), mostly enrolled in the F9 Genotype and PK HB …

medicine.medical_specialtypharmacogenetics.Mutation MissenseSocio-culturaleAlpha (ethology)aemophilia Brecombinant proteinsHemophilia Blaw.inventionFactor IXAntigenlawInternal medicineGenotypemedicineMissense mutationHumansHaemophilia BpharmacokineticBeta (finance)Factor IXpharmacogeneticsChemistryHematologymedicine.diseaseEndocrinologyPhenotypefactor IX activation; hemophilia B; pharmacogenetics; pharmacokinetics; recombinant proteinsRecombinant DNAFemalefactor IX activationBlood Coagulation Testspharmacokineticsrecombinant proteinmedicine.drugJournal of thrombosis and haemostasis : JTH
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Ultrasound evaluation of joint damage and disease activity in adult patients with severe haemophilia A using the HEAD‐US system

2021

Introduction The Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) system and scoring scale has proven to be an accurate and time-efficient imaging method for identifying joint damage in patients with haemophilia. Aim Observational, multicentre, cross-sectional study conducted in 8 centres in Spain that assessed the joint status of adult patients with severe haemophilia A (SHA) using HEAD-US. Methods Joint status of the elbow, knee and ankle was evaluated in adults with SHA receiving on-demand (OD) treatment, or primary (PP), secondary (SP), tertiary (TP) or intermittent (IP) prophylaxis. Results Of the 95 patients enrolled, 87 received prophylaxis (6.3% PP, 38.9% SP, 43.2% …

musculoskeletal diseasesAdultmedicine.medical_specialtyElbowDiseaseHaemophiliaHemophilia AInternal medicineArthropathyHemarthrosisMedicineHumansGenetics (clinical)Ultrasonographybusiness.industryArthritisUltrasoundHematologyGeneral Medicinemedicine.diseasemedicine.anatomical_structureCross-Sectional StudiesJoint damageObservational studyAnkleJoint Diseasesbusiness
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Dental treatment of patients with coagulation factor alterations: An update

2007

Hemostasia is a defense mechanism that protects vascular integrity, avoids blood loss, and maintains blood fluidity throughout the circulatory system. The biochemical processes leading to blood clot formation are complex, and alterations can appear at any point within the chain of events. While a range of alterations can affect the coagulation factors, some are more common than others in the general population, including congenital (hemophilia A and B, Von Willebrand’s disease) and acquired disorders (anticoagulant drugs). Such diseases require special consideration in the context of dental treatment, and therefore must be known to dental professionals. Interconsultation with the hematologi…

prevencióninterconsultaanticoagulant drugscoagulation factors:CIENCIAS MÉDICAS [UNESCO]hemofiliapreventionVon Willebrand’s diseasehemophiliaUNESCO::CIENCIAS MÉDICASfactores de coagulaciónHemostasiaenfermedad de von WillebrandVon Willebrand’s diseasefármacos anticoagulantesaccidentes hemorrágicosinterconsultationbleeding accidents
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