Search results for "Arthropathy"
showing 10 items of 52 documents
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
2018
Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…
Force fluctuations during the Maximum Isometric Voluntary Contraction of the quadriceps femoris in haemophilic patients
2007
In the general population, the degenerative processes in joints are directly related to adult age, and osteoarthrosis represents the most frequent musculoskeletal alteration. In the haemophilic patient, the degenerative processes in the joint begin at very early ages, and are directly related to musculoskeletal bleeding episodes, which are occasionally subclinical and constitute haemophilic arthropathy. In the haemophilic patient, arthropathy constitutes the most frequent, severe and disabling pathology, and its assessment includes muscular force-related parameters. We have studied the value of Maximum Isometric Voluntary Contraction in the quadriceps femoris of 46 subjects, 28 haemophiliac…
Effect of radiosynoviorthesis on the progression of arthropathy and haemarthrosis reduction in haemophilic patients.
2017
IntroductionRepeated haemarthrosis is widely accepted as the triggering cause of synovitis and haemophilic arthropathy. A first-line treatment of chronic synovitis is radiosynoviorthesis (RS). The aim of this study was to evaluate the RS effects on the progression of arthropathy and on a reduction in bleeding in patients with haemophilia. MethodsAn observational-retrospective study was performed. Bleeding episodes in the 12months following and in the 12months preceding RS was compared. The arthropathy was clinically and radiologically analysed by age range, joint and subject, comparing those undergoing RS (Radiosynoviorthesis Group, RSG) against those not undergoing this treatment (Non-Radi…
Assessment of haemophilic arthropathy through balance analysis: a promising tool
2019
[EN] The purpose of this study was to develop a tool able to distinguish between subjects who have haemophilic arthropathy in lower limbs and those who do not by analyzing the centre of pressure displacement. The second objective was to assess the possible different responses of haemophiliacs and healthy subjects by creating a classifier that could distinguish between both groups. Fiftyfour haemophilic patients (28 with and 26 without arthropathy) and 23 healthy subjects took part voluntarily in the study. A force plate was used to measure postural stability. A total of 276 centre of pressure displacement parameters were calculated under different conditions: unipedal/bipedal balance with e…
Posturographic analysis of balance control in patients with haemophilic arthropathy
2007
Summary. Musculoskeletal disorders in haemophiliacs represent the highest percentage of lesions, giving rise to haemophilic arthropathy (HA) which predominantly affects lower limbs, influencing postural control, standing and walking. Leading a sedentary lifestyle seems to influence strength and muscular resistance in haemophiliacs which, in turn, are related to articular stability and the prevention of articular degenerative processes. The objective of this work was to study alterations in balance to subsequently evaluate the appropriate therapeutics and how this influences the development of arthropathy. Twenty-five haemophiliacs with HA, 25 haemophiliacs without HA (NHA) and 25 healthy c…
Bilateral synovial chondromatosis of the temporomandibular joint.
2009
Abstract Purpose To report an exceptional case of bilateral synovial chondromatosis (SC) of the temporomandibular joint (TMJ) and discuss diagnostic approaches, treatment options and follow-up data. Patients and methods A 38-year-old woman presented with left preauricular swelling. Initial imaging studies revealed TMJ effusion only. Six years later, synovial calcifications were detected in the left TMJ; the right TMJ space was widened and presented incipient calcium deposits. Open arthrotomy of the left TMJ was performed, with removal of multiple cartilaginous loose bodies and complete synovectomy. Periodic controls proved the asynchronic development of intra-articular bodies in the right T…
Using the Hemophilia Joint Health Score for assessment of children: Reliability of the Spanish version
2018
Introduction: Numerous measuring instruments for the evaluation of hemophilic arthropathy have been developed. One of the most used systems is the Hemophilia Joint Health Score (HJHS) given its sensitivity to clinical changes appearing in the joints because of recurrent hemarthrosis. Objective: Assessing the interrater reliability, using the Spanish version of the HJHS (version 2.1) in children with hemophilia. Design: Reliability study to assess the interrater reliability of the Spanish version of HJHS. Methods: A sample of 36 children aged 7–13 years diagnosed with hemophilia A or B was used. Two physiotherapists performed physical assessments with the Spanish version of the HJHS. Descrip…
Balance evaluation in haemophilic preadolescent patients using Nintendo Wii Balance Board®
2016
Introduction: Alterations in the musculoskeletal system, especially in the lower limbs, limit physical activity and affect balance and walking. Postural impairments in haemophilic preteens could increase the risk of bleeding events and deteriorate the physical condition, promoting the progression of haemophilic arthropathy. Aim: This study aims to evaluate static postural balance in haemophilic children, assessed by means of the Wii Balance Board® (WBB). Methods: Nineteen children with haemophilia and 19 without haemophilia aged 9-10 years, have participated in this study. Postural balance was assessed by performing four tests, each one lasting 15 s: bipodal eyes open (BEO), bipodal eyes cl…
Health status and quality of life of elderly persons with severe hemophilia born before the advent of modern replacement therapy
2009
SUMMARY BACKGROUND: More and more people with severe hemophilia reach an old age thanks to an effective treatment. There is no information on the health status and quality of life of elderly people with hemophilia born at a time when replacement therapy was hardly available. METHODS: Italian patients with severe hemophilia, aged >or=65 years and hence born in 1942 or earlier, were compared with elderly men without bleeding disorders matched for age, sex, geography and social status. The following aspects were evaluated: concomitant illness, orthopedic status, physical functioning and cognitive status. Measurements of generic and disease-specific health-related quality of life were also obta…
Physical Function and Properties of Quadriceps Femoris Muscle in Men With Knee Osteoarthritis
2008
To examine the objective physical function of the lower extremities, to measure the properties of quadriceps femoris muscle (QFM), and to assess subjective disabilities in men with knee osteoarthritis (OA) and to compare the results with those obtained from age- and sex-matched control subjects.Cross-sectional study.Rehabilitation clinic in a university hospital.Male volunteers (n=54) (age range, 50-69y) with knee OA and randomly selected healthy, age- and sex-matched control subjects (n=53).Not applicable.Physical function evaluated with a test battery including the QFM composition measurement, the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and the RAND 36-Item…