3D gait analysis, haemophilia joint health score, leg muscle laterality and biomarkers of joint damage: A cross‐sectional comparative assessment of haemophilic arthropathy

Repeated bleeding into the joints leads to the development of chronic and progressive joint disease in 90% of people with severe haemophilia. Owing to recurrent haemarthroses, musculoskeletal outcome remains an important hallmark of treatment efficacy in haemophilia. Physical joint assessment is commonly used to measure structural and functional joint damage. With the development and introduction of prophylaxis, the most widely used instruments for the assessment of haemophilic arthropathy were found to lack sensitivity to detect the earliest signs of joint disease. To address these inadequacies, a new international consensus tool, the Haemophilia Joint Health Score (HJHS), was developed. The HJHS appears to be a sensitive, reliable and valid tool. However, the HJHS needs further evaluation in various patient populations to assess its applicability and usefulness.

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Magnetic Resonance Imaging of Hemophilic Joints: Correlations with the Bleeding Phenotype and Physical Examination

Folia Medica ◽

10.3897/folmed.62.e50550 ◽

2020 ◽

Vol 62 (4) ◽

pp. 762-768

Author(s):

Neofit Spasov ◽

Diana Dimitrova-Popova ◽

Nikoleta Traikova-Djambazova ◽

Mariya Spasova ◽

Miroslava Bosheva

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Physical Examination ◽

Joint Damage ◽

Haemophilia A ◽

Cumulative Number ◽

Resonance Imaging ◽

Haemophilic Arthropathy ◽

Hemosiderin Deposition ◽

Joint Health

Introduction: Blood-induced joint damage as a hallmark of haemophilia continues to occur despite the widespread prophylaxis. Pre-cise assessment and follow-up of joint status are crucial for tailoring their treatment.  Aim: To study the correlation between the bleeding phenotype, the functional joint status, and the magnetic resonance imaging score in pediatric patients with haemophilia. Materials and methods: Eighty-six joints (ankles, knees, and elbows) in patients aged 10.7±0.5 (range 4 - 20) years with severe/moderate haemophilia A, severe haemophilia B and haemophilia A with inhibitors were included in the study. The joints were assessed by Haemophilia Joint Health Score 2.1 (HJHS2.1) one month after the last hemarthrosis in a non-bleeding state. The magnetic reso-nance imaging was performed on 40 (46.5%) of the examined hemophilic joints (16 ankles, 11 knees and 13 elbows).  Results: Joint bleeds were present in 37 (38.9%) of the joints with ankles being the most commonly affected. Sixty joints (69.8%) had normal HJHS2.1 score. Only the loss of flexion score differed significantly between the joints and the ankles had highest score. The cumulative number of hemarthrosis in the joint correlated moderately with hemosiderin deposition and strongly with the formation of subchondral cysts on magnetic resonance imaging. The magnetic resonance imaging scores for soft tissue and osteochondral domains correlated moderately with the cumulative number of hemarthrosis in the joint and only with the presence of pain and crepitus of mo-tion from the physical examination. Conclusions: Magnetic resonance imaging is more sensitive than the bleeding phenotype and physical examination in detecting early signs of haemophilic arthropathy.

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Sensitivity of gait analysis to detect motor phenotype in pre-manifest and manifest Huntington's disease – cross-sectional results from the TRACK-HD Study

Aktuelle Neurologie ◽

10.1055/s-0029-1238520 ◽

2009 ◽

Vol 36 (S 02) ◽

Author(s):

S Rohm ◽

N Bechtel ◽

H Beckmann ◽

A Sturrock ◽

S van den Bogaard ◽

...

Keyword(s):

Gait Analysis ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Cross Sectional ◽

Motor Phenotype

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FRI0499 ACROMEGALY ARTROPATHY: IS THERE SOMETHING MORE BEHIND THE PAIN? A CROSS-SECTIONAL STUDY TO EVALUATE RHEUMATIC DISEASE IN GROWTH HORMONE SECRETING TUMOR PATIENTS

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.3134 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 848.1-848

Author(s):

M. Scarati ◽

S. Parisi ◽

N. Prencipe ◽

M. C. Ditto ◽

E. Ghigo ◽

...

Keyword(s):

Growth Hormone ◽

Logistic Regression ◽

Rheumatic Disease ◽

Power Doppler ◽

Connective Tissue Diseases ◽

Joint Damage ◽

Joint Space ◽

Tumor Patients ◽

Cross Sectional ◽

Significant Difference

Background:Acromegaly is a rare disease with a remarkable impact on patients, both in terms of life expectancy and quality of life. Osteo-articular complications are one of the most frequently reported bothers. The “acromegaly artropathy” characterizes more than 70% of patients at diagnosis. Artropathy affects both spine and peripheral joints. A recent prospective study documented progression of acromegalic arthropathy identified as a worsening of osteophytes and joint space narrowing in 72–74% of patients despite long-term biochemical control. In addiction the Literature has occasionally reported cases of simultaneous presence of rheumatic diseases (rheumatoid arthritis, polymyalgia rheumatica, undifferentiated connective tissue diseases) and acromegaly and in all these cases the treatment has been delayed, because of wrong symptoms attribution to acromegaly artropathy.Objectives:The primary goal of the study is to better characterize joint pain in acromegaly patients and to evaluate the prevalence of rheumatic disease in growth hormone (GH) secreting pituitary tumor patients.Methods:We enrolled 20 acromegaly subjects (AS) and 20 control subjects (CS). In each subject immunological pattern (rheumatoid factor – RF; antinuclear antibodies - ANA, ENA; anti-citrullinated protein antibodies - ACPA; erythrocyte sedimentation rate – ESR) has been evaluated; they, also, underwent bilateral joint ultrasound of hands and wrists and nail capillaroscopy. The Chi square test and the Fisher’s exact test were used to evaluate the association between binary variables, while the Spearman’s test to evaluate the correlation of continuous ones. A multiple or logistic regression model was calculated in order to define the association between the capillaroscopic alterations and other detected variables.Results:Articular pain emerged as significantly more frequent in AS (p = 0.0269). No statistically significant differences are detected regarding immunological pattern. ANA and ENA screening resulted positive in 10% in AS and in 5% in CS. No IgA ACPA were detected in AS or CS, while IgG ACPA were positive only in one AS subject. No significant differences were detected between IgM and IgG RFin the two groups (AS 5% and CS 0%). Three fold higher IgG FR in AS compared to CS were detected. ESR levels were significantly higher than CS (p = 0.0405), as well as increased power doppler (PWD) articular uptake (AS 30% vs CS 5% p 0.081). The capillaroscopic evaluation showed a significant difference in almost each parameter that has been evaluated (logistic regression: number of enlargement p 0.004, hemorragies p 0.01 and capillaries p 0.001), showing a moderate-severe microangiopathy in AS. Interestingly, analyzing only the acromegaly cohort, we noticed higher GH levels at the enrollment in patients which developed capillary enlargements (GH: 0.95 ng/ml IQ 0,6-1,6) compared to other ones (GH: 0.55 ng/ml IQ 0.4-0.7; p = 0.08) and a significant lower number of hemorrhages (p = 0.02) in patients treated with GH antagonist pegvisomant.Conclusion:Our results demonstrated that joint damage in acromegaly does not seem to have an autoimmune etiology. Therefore, articular damage is mechanical and increased ESR and PWD alterations seems to confirm the presence of an inflammatory component. In addition, acromegaly is characterized by a microvascular pattern of moderate-severe microangiopathy, without correlation to IGF-I, but GH levels. Although requiring further confirmatory studies, our preliminary results seem to indicate how the capillaroscopic examination could be useful to detect earlier microangiopathy and to identify patients with a greater risk of macroangiopathy development..References:[1]Claessen KMJA et al. Bone and joint disorders in acromegaly. Neuroendocrinology. 2016;103(1):86-95.[2]Örük G et al. Is every joint symptom related to acromegaly? Endocrine. 2013 Apr;43(2):404-11.Disclosure of Interests:None declared

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Lower leg muscle structure and function are altered in long-distance runners with medial tibial stress syndrome: a case control study

Journal of Foot and Ankle Research ◽

10.1186/s13047-021-00485-5 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Joshua Mattock ◽

Julie R. Steele ◽

Karen J. Mickle

Keyword(s):

Lower Leg ◽

Structure And Function ◽

Flexor Hallucis Longus ◽

Plantar Flexor ◽

Distance Runners ◽

Long Distance ◽

Cross Sectional ◽

Muscle Structure ◽

Leg Muscle ◽

And Function

Abstract Background Medial tibial stress syndrome (MTSS) is a common lower leg injury experienced by runners. Although numerous risk factors are reported in the literature, many are non-modifiable and management of the injury remains difficult. Lower leg muscle structure and function are modifiable characteristics that influence tibial loading during foot-ground contact. Therefore, this study aimed to determine whether long-distance runners with MTSS displayed differences in in vivo lower leg muscle structure and function than matched asymptomatic runners. Methods Lower leg structure was assessed using ultrasound and a measure of lower leg circumference to quantify muscle cross-sectional area, thickness and lean lower leg girth. Lower leg function was assessed using a hand-held dynamometer to quantify maximal voluntary isometric contraction strength and a single leg heel raise protocol was used to measure ankle plantar flexor endurance. Outcome variables were compared between the limbs of long-distance runners suffering MTSS (n = 20) and matched asymptomatic controls (n = 20). Means, standard deviations, 95 % confidence intervals, mean differences and Cohen’s d values were calculated for each variable for the MTSS symptomatic and control limbs. Results MTSS symptomatic limbs displayed a significantly smaller flexor hallucis longus cross-sectional area, a smaller soleus thickness but a larger lateral gastrocnemius thickness than the control limbs. However, there was no statistical difference in lean lower leg girth. Compared to the matched control limbs, MTSS symptomatic limbs displayed deficits in maximal voluntary isometric contraction strength of the flexor hallucis longus, soleus, tibialis anterior and peroneal muscles, and reduced ankle plantar flexor endurance capacity. Conclusions Differences in lower leg muscle structure and function likely render MTSS symptomatic individuals less able to withstand the negative tibial bending moment generated during midstance, potentially contributing to the development of MTSS. The clinical implications of these findings suggest that rehabilitation protocols for MTSS symptomatic individuals should aim to improve strength of the flexor hallucis longus, soleus, tibialis anterior and peroneal muscles along with ankle plantar flexor endurance. However, the cross-sectional study design prevents us determining whether between group differences were a cause or effect of MTSS. Therefore, future prospective studies are required to substantiate the study findings.

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Hemophilia joint health score reliability study

Haemophilia ◽

10.1111/j.1365-2516.2006.01312.x ◽

2006 ◽

Vol 12 (5) ◽

pp. 518-525 ◽

Cited By ~ 179

Author(s):

P. HILLIARD ◽

S. FUNK ◽

N. ZOURIKIAN ◽

B.-M. BERGSTROM ◽

C. S. BRADLEY ◽

...

Keyword(s):

Reliability Study ◽

Health Score ◽

Score Reliability ◽

Joint Health

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Accelerometric Gait Analysis Devices in Children—Will They Accept Them? Results From the AVAPed Study

Frontiers in Pediatrics ◽

10.3389/fped.2020.574443 ◽

2021 ◽

Vol 8 ◽

Author(s):

Isabella Wiedmann ◽

Marcello Grassi ◽

Ibrahim Duran ◽

Ricardo Lavrador ◽

Evelyn Alberg ◽

...

Keyword(s):

Gait Analysis ◽

Real World ◽

Gait Speed ◽

Daily Living ◽

Walking Speed ◽

Pediatric Population ◽

Rehabilitation Medicine ◽

Cross Sectional ◽

Laboratory Conditions ◽

Significant Difference

Aims: To assess children's acceptance to wear a 3D-accelerometer which is attached to the waist under real-world conditions, and also to compare gait speed during supervised testing with the non-supervised gait speed in every-day life.Methods: In a controlled observational, cross sectional study thirty subjects with cerebral palsy (CP), with level I&II of the Gross Motor Function Classification System (GMFCS) and 30 healthy control children (Ctrl), aged 3–12 years, were asked to perform a 1-min-walking test (1 mwt) under laboratory conditions, and to wear an accelerometric device for a 1-week wearing home measurement (1 WHM). Acceptance was measured via wearing time, and by a questionnaire in which subjects rated restrictions in their daily living and wearing comfort. In addition, validity of 3D-accelerometric gait speed was checked through gold standard assessment of gait speed with a mobile perambulator.Results: Wearing time amounted to 10.3 (SD 3.4) hours per day, which was comparable between groups (T = 1.10, P = 0.3). Mode for wearing comfort [CP 1, Range (1,4), Ctrl 1, Range (1,6)] and restriction of daily living [CP 1, Range (1,3), Ctrl 1, Range (1,4)] was comparable between groups. Under laboratory conditions, Ctrl walked faster in the 1 mwt than CP (Ctrl 1.72 ± 0.29 m/s, CP 1.48 ± 0.41 m/s, P = 0.018). Similarly, a statistically significant difference was found when comparing real-world walking speed and laboratory walking speed (CP: 1 mwt 1.48 ± 0.41 m/s, 1 WHM 0.89 ± 0.09 m/s, P = 0.012; Ctrl: 1mwt 1.72 ± 0.29, 1 WHM 0.97 ± 0.06, P < 0.001).Conclusion: 3D-accelerometry is well-enough accepted in a pediatric population of patients with CP and a Ctrl group to allow valid assessments. Assessment outside the laboratory environment yields information about real world activity that was not captured by routine clinical tests. This suggests that assessment of habitual activities by wearable devices reflects the functioning of children in their home environment. This novel information constitutes an important goal for rehabilitation medicine. The study is registered at the German Register of Clinical Trials with the title “Acceptance and Validity of 3D Accelerometric Gait Analysis in Pediatric Patients” (AVAPed; DRKS00011919).

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A wearable gait analysis protocol to support the choice of the appropriate ankle-foot orthosis: A comparative assessment in children with Cerebral Palsy

Clinical Biomechanics ◽

10.1016/j.clinbiomech.2019.08.009 ◽

2019 ◽

Vol 70 ◽

pp. 177-185 ◽

Cited By ~ 2

Author(s):

Bruno Giuseppe Contini ◽

Elena Bergamini ◽

Martina Alvini ◽

Eugenio Di Stanislao ◽

Giuseppe Di Rosa ◽

...

Keyword(s):

Cerebral Palsy ◽

Gait Analysis ◽

Comparative Assessment ◽

Ankle Foot Orthosis ◽

Children With Cerebral Palsy ◽

Foot Orthosis ◽

Analysis Protocol

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Effects of primary and secondary prophylaxis on the clinical expression of joint damage in children with severe haemophilia A

Thrombosis and Haemostasis ◽

10.1160/th07-06-0417 ◽

2008 ◽

Vol 99 (01) ◽

pp. 71-76 ◽

Cited By ~ 9

Author(s):

Karin Kurnik ◽

Frauke Friedrichs ◽

Susan Halimeh ◽

Anne Krümpel ◽

Christoph Bidlingmaier ◽

...

Keyword(s):

Bleeding Episode ◽

Joint Damage ◽

Primary Prophylaxis ◽

Secondary Prophylaxis ◽

Outcome Variable ◽

Haemophilia A ◽

Severe Haemophilia ◽

On Demand ◽

Haemophilic Arthropathy ◽

Bleeding Episodes

SummaryPatients with severe haemophilia A (HA) can either be treated by regular FVIII infusions twice or three times per week (prophylaxis), or only in case of bleeding episodes (on-demand). Whereas prophylaxis reduces the number of bleeding episodes and may therefore prevent the development of haemophilic arthropathy, there is still a lot of controversy surrounding recommendations on age and dose at start of prophylactic regimens. The present database study was performed to investigate the role of primary versus secondary prophylaxis in HA children. The outcome variable was imaging-proven haemophilic joint damage. Forty-two children were initially treated with primary prophylaxis following the first bleeding episode, and were frequency-matched (year of birth, catchment area) to 67 pa- tients receiving “on-demand” therapy with an early switch to “secondary prophylaxis”. In multivariate analysis adjusted for the HA mutation type and the presence or absence of thrombophilia, the Pettersson score investigated at a median age of 12.5 years in joints with at least one documented bleeding episode was not significantly different between the two patient groups (p=0.944),and no statistically significant differences were found in patients with target joints (p=0.3), nor in children in whom synovitis had occurred (p=0.77). No conclusion can be drawn from the data presented herein whether primary prophylaxis or an early start of secondary prophylaxis is superior with respect to joint outcome in children with severe HA.

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