Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.

OBJECTIVE: Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in view of collagen disorganization typically present in tendon pathologies. DESIGN: A case-control, genotype-phenotype association study. SETTING: La Ribera Hospital, Valencia, Spain. PARTICIPANTS: A group of 137 young athletes (49 with rotator cuff tendon pathology and 88 healthy counterparts) who played upper-limb-loading sports were clinically and ultrasound (US) assessed for rotator cuff tendinopathy were included. INTERVENTION: Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype. MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy. RESULTS: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ 2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26. CONCLUSION: A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.

Effectiveness of progressive moderate-vigorous intensity elastic resistance training on quality of life and perceived functional abilities in people with hemophilia: Secondary analysis of a randomized controlled trial.

INTRODUCTION AND AIM: Strength exercise training is advised for people with hemophilia (PWH); however, few studies have been published and have methodological limitations. The purpose of this study was to evaluate the effectiveness of progressive elastic resistance training on quality of life and perceived functional abilities in PWH. METHODS: Participants were randomly allocated to the intervention (n = 10) or control (n = 10) group. The intervention group performed progressive moderate-vigorous elastic resistance training (2 days/week, a total of 8 weeks), focusing on the muscles of the knee, elbow, and ankle joints. The control group continued its usual daily activities for 8 weeks. Quality of life (A36 Hemofilia-QoL®) and perceived functional abilities (Haemophilia Activities List) were assessed at baseline and an 8-week follow-up. RESULTS: The intervention group improved the quality-of-life dimension of joint damage perception in comparison to the control group (p = .015, large effect size). Regarding perceived functional abilities, the intervention group improved lying, sitting, kneeling, and standing (p = .006, small effect size), and complex lower extremities activities (i.e., walking short and long-distance, and up-down stairs) (p = .006, small effect size) compared to the control group. No other significant differences were observed. CONCLUSIONS: Eight weeks of progressive moderate-vigorous elastic resistance training in PWH improve the quality-of-life dimension of joint damage perception and perceived functional abilities (lying/sitting/kneeling/standing, and complex lower extremities activities). Our results suggest a limited effect of the program on the other items of quality of life measured by the questionnaire as emotional functioning, mental health, and social relationships. Importantly, no serious adverse effects occurred.

Effectiveness of therapeutic exercise and cognitive-behavioural therapy combined protocol on functionality, pain and joint health in people with haemophilia: Secondary analysis of a controlled trial.

BACKGROUND: Haemophilic arthropathy is one of the main causes of morbidity in people with haemophilia (PWH), inducing pain and reduced functionality. Therefore, PWH are complex patients and must be approached from a multidisciplinary perspective. OBJECTIVES: To evaluate the effectiveness of a therapeutic exercise and cognitive-behavioural therapy (CBT) combined protocol on functionality, pain, and joint health of PWH, arthropathy and chronic pain. Treatment satisfaction was also evaluated. METHODS: A single-blinded clinical trial with 21 PWH in prophylactic regimen was carried out. Participants were divided into an experimental group (EG, n = 11) and a control group (CG, n = 10). The EG underwent a 4-month programme of home-based therapeutic exercise plus CBT, whilst CG performed their daily activities. Patients were evaluated at baseline, post-intervention and after 12 additional weeks. Measures of functionality (Haemophilia Activities List, Timed Up and Go Test, 2-Minutes-Walking-Test and Sit-to-Stand Test), pain (PainDETECT and Visual Analogue Scale) and joint health (Haemophilia Joint Health Score) were taken. Related dimensions of the A36 Haemophilia Quality of Life Questionnaire were calculated. Effects were calculated using a two-factor ANOVA. RESULTS: The EG showed significant improvements in function (p < .001), pain (p < .001), joint damage (p = .006), and satisfaction with the treatment (p = .006) dimensions of the A36 Haemophilia Quality of Life Questionnaire, as well as in pain measured with the Visual Analogue Scale (p = .008) and PainDETECT (p = .035). CONCLUSIONS: The combined physiotherapy and CBT protocol showed a partial improvement in functionality, pain and joint health of PWH, arthropathy and chronic pain. In addition, participants were satisfied with the treatment.

Musculoskeletal ultrasound in hemophilia: Results and recommendations from a global survey and consensus meeting.

INTRODUCTION: For persons with hemophilia, optimization of joint outcomes is an important unmet need. The aim of this initiative was to determine use of ultrasound in evaluating arthropathy in persons with hemophilia, and to move toward consensus among hemophilia care providers regarding the preferred ultrasound protocols for global adaptation. METHODS: A global survey of hemophilia treatment centers was conducted that focused on understanding how and why ultrasound was being used and endeavored to move toward consensus definitions of both point-of-care musculoskeletal ultrasound (POC-MSKUS) and full diagnostic ultrasound, terminology to describe structures being assessed by ultrasound, and how these assessments should be interpreted. Next, an in-person meeting of an international group of hemophilia health care professionals and patient representatives was held, with the objective of achieving consensus regarding the acquisition and interpretation of POC-MSKUS and full diagnostic ultrasound for use in the assessment of musculoskeletal (MSK) pathologies in persons with hemophilia. RESULTS: The recommendations were that clear definitions of the types of ultrasound examinations should be adopted and that a standardized ultrasound scoring/measurement system should be developed, tested, and implemented. The scoring/measurement system should be tiered to allow for a range of complexity yet maintain the ability for comparison across levels. CONCLUSION: Ultrasound is an evolving technology increasingly used for the assessment of MSK outcomes in persons with hemophilia. As adoption increases globally for clinical care and research, it will become increasingly important to establish clear guidelines for image acquisition, interpretation, and reporting to ensure accuracy, consistency, and comparability across groups.

Effects of a non-pharmacological approach for chronic pain management in patients with haemophilia: efficacy of cognitive-behavioural therapy associated with physiotherapy.

INTRODUCTION: More than half of adult patients with severe haemophilia (PWH) suffer pain daily, with chronic pain (CP) in more than 15% of cases, thereby reducing their quality of life (QoL). However, there are no evidence-based therapeutic guidelines for pain management. AIM: To evaluate the effectiveness of a combined protocol based on psychology and physiotherapy in the improvement of CP self-efficacy in PWH with CP. Secondary outcomes are changes in QoL, emotional status, pain and kinesiophobia. METHODS: In this prospective controlled trial study, recruited patients were allocated either to an experimental group (EG, n = 10) or to a control group (CG, n = 9). EG received interventions over four months: one cognitive-behavioural therapy (CBT) session per month and three home exercise sessions per week. Self-efficacy (Chronic Pain Self-Efficacy Scale), QoL (A36 Hemophilia-QoL), emotional status (Hospital Anxiety and Depression Scale and Rosenberg's Self-esteem Scale), pain (Visual Analogue Scale) and kinesiophobia (Tampa Scale for Kinesiophobia) were assessed at three time points (Week 0, Month 4 and Month 7). The intervention effects were determined with mixed 2-factor ANOVAs. RESULTS: The EG showed a significant improvement (p < .05) in the control of symptoms and pain management scores on the Self-Efficacy Scale, QoL, self-esteem emotional status, pain and kinesiophobia. The intervention effects remained significant (p < .05) over time for pain management, QoL, pain and kinesiophobia. CONCLUSION: The non-pharmacological treatment applied based on CBT and physiotherapy showed to be effective in improving CP self-efficacy, QoL and emotional status, while reducing pain and kinesiophobia in PWH with CP.

Ultrasound evaluation of joint damage and disease activity in adult patients with severe haemophilia A using the HEAD-US system.

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% TP and 3.2% IP). Mean age was 35.2 years, and 59% of patients had not undergone image testing in the last year. The HEAD-US score was 0 in all joints in 6.3% of patients. The ankle was the most affected joint, regardless of treatment regimen. Patients receiving OD treatment, TP or IP had the overall worst scores, mainly in the ankles and elbows; a similar but milder profile was observed in patients on SP; and patients on PP had the best score in all joints. CONCLUSION: Joint function may be effectively preserved in patients with SHA on PP, but OD treatment or later initiation of prophylaxis does not seem to prevent progression of arthropathy. Disease worsening was observed in patients OD, TP or IP, most often affecting ankles and elbows. Closer ultrasound imaging monitoring may improve management of these patients.

Feasibility, safety and muscle activity during flywheel vs traditional strength training in adult patients with severe haemophilia.

INTRODUCTION: Eccentric training has been associated with several specific physiological adaptations. The flywheel machine is one of the easiest ways of performing eccentric overload training. However, no studies evaluated its feasibility, safety and muscle activity in patients with haemophilia (PWH). AIM: To evaluate feasibility and safety and compare muscle activity during flywheel vs weight machine knee extension exercise in severe PWH. METHODS: Eleven severe PWH [mean age of 33.5 (8.1) years] participated in this cross-sectional study after receiving prophylactic treatment. Surface electromyography (EMG) signals were recorded for the rectus femoris during the knee extension exercise performed with 2 different conditions (flywheel and weight machine) with matched intensity (6 on the Borg CR10 scale). Kinesiophobia was assessed before and after the experimental session. Participants were asked to rate tolerability of each condition. Adverse effects were evaluated 24 and 48 hours after the session. RESULTS: Kinesophobia did not increase after the experimental session, and no adverse effects were reported. At 60%-70% of the contraction cycle, the flywheel exercise showed higher (P = .024) eccentric rectus femoris muscle activity than the weight machine. In contrast, during the last 90%-100% of the contraction cycle, the traditional weight machine showed higher (P = .004) rectus femoris activity than the flywheel. CONCLUSION: The knee extension exercise performed with the flywheel at moderate intensity is safe and well tolerated among severe PWH under adequate factor coverage. Importantly, the flywheel variation provides higher eccentric rectus femoris activity at the breaking force moment, while it provides lower eccentric muscle activity at the end of the cycle.

Safety and Effectiveness of Progressive Moderate-to-Vigorous Intensity Elastic Resistance Training on Physical Function and Pain in People With Hemophilia.

OBJECTIVE: Strength training is recommended for people with hemophilia; however, published data are anecdotal and have methodological limitations. The purpose of this study was to evaluate the safety and effectiveness of progressive moderate-to-vigorous intensity elastic resistance training on physical function and pain in this patient population. METHODS: A randomized controlled trial was conducted in a university laboratory setting where 20 patients (17 with severe, 1 with moderate, and 2 with mild hemophilia) aged 21 to 53 years received evaluations at baseline and 8-week follow-up. Participants were allocated to intervention (progressive strength training) or control (usual daily activities) groups. The intervention group trained 2 days per week during 8 weeks with elastic resistance. Intensity during the first 2 weeks was a 20-repetition maximum and increased progressively toward 15, 12, and finally 10 repetition maximum. The primary outcome was muscle strength. Secondary outcomes were the Timed "Up and Go" Test score, sit-to-stand, range of motion, Haemophilia Joint Health Score, kinesiophobia score, global impression of pain change, general self-rated health status, and desire to exercise. RESULTS: The intervention group showed greater strength improvements than the control group in almost all of the joints, with moderate to high effect sizes. The intervention group also showed better Timed "Up and Go" and sit-to-stand scores than the control group (moderate effect size), greater range of motion at the knee flexion with the right leg (trivial effect size), and better Haemophilia Joint Health Score at the left knee (small effect size). The intervention group showed greater overall pain reduction, self-rated overall status, and desire to exercise than the control group. CONCLUSIONS: Progressive strength training with elastic resistance performed twice a week during 8 weeks is safe and effective in people with hemophilia to improve muscle strength and functional capacity, reduce general pain, and improve self-rated health status and desire to exercise. IMPACT: This study provides evidence for the use of a specific strength training regimen for people with hemophilia. LAY SUMMARY: People with hemophilia of differing levels of severity, with adequate coverage with clotting factor, can safely engage in progressive strength training and can improve their functioning.

Use of ultrasound for assessment of musculoskeletal disease in persons with haemophilia: Results of an International Prophylaxis Study Group global survey.

AIM: The objective of this survey was to understand the global trends of imaging assessments in persons with haemophilia, focusing on point-of-care ultrasound (POCUS). Insights into the barriers impeding its widespread proliferation as a frontline imaging modality were obtained. METHODS: The survey opened in September of 2017 and closed in May of 2018. Haemophilia Treatment Centres (HTCs) treating both paediatric/adult patients were the population of interest. A REDCap survey of 25 questions was disseminated to 232 clinical staff in 26 countries. RESULTS: The majority of respondents (88.3%, 91/103) reported that POCUS is most useful to confirm or rule out a presumed acute joint bleed. European HTCs reported the highest routine use of POCUS at 59.5% (22/37) followed by HTCs in the "Other" countries of the world at 46.7% (7/15) and North American HTCs at 43.9% (25/57). At the time of the survey, physiotherapists were identified as the clinical staff who perform POCUS 52.8% (28/53) of the time, in contrast with nurses/nurse practitioners who represent only 5.7% (3/53) of users. The greatest perceived barriers to the implementation of POCUS are the lack of trained healthcare professionals who can perform POCUS at 69.2% (74/107) and the overall time commitment required at 68.2% (73/107). CONCLUSION: Despite POCUS being used in 49.5% (54/109) of sampled HTCs, it is still utilized almost 30% less globally than full diagnostic ultrasound. A list of barriers has been identified to inform HTCs which challenges they will likely need to overcome should they choose to incorporate this imaging modality into their practice.

Effects of performing dual tasks on postural sway and postural control complexity in people with haemophilic arthropathy.

INTRODUCTION: People with haemophilic arthropathy (PWHA) have impairments in postural control. However, little is known about the effects of demanding conditions, including the unipedal stance and dual tasks, on postural control in PWHA. AIM: Determine the effects of performing dual tasks while in the one-leg stance on postural sway and postural control complexity in PWHA vs. healthy active (HAG) and non-active (HNAG) groups of individuals. METHODS: Fifteen PWHA and 34 healthy subjects (18 active and 16 non-active) were recruited. Vertical (V), mediolateral (ML) and anteroposterior (AP) centre of mass signals were acquired using a 3-axis accelerometer placed at the L3/L4 vertebrae of subjects as they performed the one-leg stance under single and dual-task conditions. Sway balance and the complexity of postural control were studied via root mean square (RMS) acceleration and sample entropy, respectively. Increased complexity of postural sway was attributed to increased automatism of postural control. RESULTS: RMS values for PWHA were higher than HAG under both conditions for the V and ML axes, and higher than HNAG under the dual-task condition for the ML axis. Sample entropy was lower in PWHA than healthy individuals under the dual-task condition for V and ML axes, and the single-task condition for the ML axis (P < .05). CONCLUSION: PWHA had poorer postural sway and decreased postural control complexity when performing a one-leg stance than healthy people, especially when the dual-task condition was applied. These results may help to design new approaches to assess and improve postural control in PWHA.

Electromyographic and Safety Comparisons of Common Lower Limb Rehabilitation Exercises for People With Hemophilia.

BACKGROUND: Ankles and knees are commonly affected in people with hemophilia and thus are targets for prevention or rehabilitation. However, to our knowledge, no studies have evaluated muscle activity and safety during exercises targeting the lower limbs in people with hemophilia; this lack of information hinders clinical decision-making. OBJECTIVE: The aim of this study was to compare the tolerability of, safety of, and muscle activity levels obtained with external resistance (elastic or machine)-based and non-external resistance-based lower limb exercises in people with hemophilia. DESIGN: This was a cross-sectional study. METHODS: Eleven people who had severe hemophilia and were undergoing prophylactic treatment participated. In a single experimental session, participants performed knee extension and ankle plantar flexion during 3 exercise conditions in random order: elastic band-based resistance (elastic resistance), machine-based resistance (machine resistance), and no external resistance. Exercise intensities for the 2 external resistance-based conditions were matched for perceived exertion. Muscle activity was determined using surface electromyography (EMG) for the rectus femoris, biceps femoris, gastrocnemius lateralis, and tibialis anterior muscles. Participants were asked to rate exercise tolerability according to a scale ranging from "very well tolerated" to "not tolerated" and to report possible adverse effects 24 and 48 hours after the session. RESULTS: No adverse effects were reported, and exercise tolerability was generally high. In the knee extension exercise, the rectus femoris normalized EMG values during the elastic resistance and machine resistance conditions were similar; 29% to 30% higher activity was obtained during these conditions than during the non-external resistance condition. In the ankle plantar flexion exercise, the gastrocnemius lateralis normalized EMG value was 34% higher during the machine resistance condition than without external resistance, and the normalized EMG values during the elastic resistance and other conditions were similar. LIMITATIONS: The small sample size and single training session were the primary limitations of this study. CONCLUSIONS: Exercises performed both with elastic bands and with machines at moderate intensity are safe, feasible, and efficient in people with severe hemophilia, providing comparable activity levels in the agonist muscles.

Physical Activity Monitoring and Acceptance of a Commercial Activity Tracker in Adult Patients with Haemophilia.

Physical activity (PA) is highly beneficial for people with haemophilia (PWH), however, studies that objectively monitor the PA in this population are scarce. This study aimed to monitor the daily PA and analyse its evolution over time in a cohort of PWH using a commercial activity tracker. In addition, this work analyses the relationship between PA levels, demographics, and joint health status, as well as the acceptance and adherence to the activity tracker. Twenty-six PWH were asked to wear a Fitbit Charge HR for 13 weeks. According to the steps/day in the first week, data were divided into two groups: Active Group (AG; ≥10,000 steps/day) and Non-Active Group (NAG; <10,000 steps/day). Correlations between PA and patient characteristics were studied using the Pearson coefficient. Participants' user experience was analysed with a questionnaire. The 10,000 steps/day was reached by 57.7% of participants, with 12,603 (1525) and 7495 (1626) being the mean steps/day of the AG and NAG, respectively. In general, no significant variations (p > 0.05) in PA levels or adherence to wristband were produced. Only the correlation between very active minutes and arthropathy was significant (r = -0.40, p = 0.045). Results of the questionnaire showed a high level of satisfaction. In summary, PWH are able to comply with the PA recommendations, and the Fitbit wristband is a valid tool for a continuous and long-term monitoring of PA. However, by itself, the use of a wristband is not enough motivation to increase PA levels.

Assessment of Kinect V2 for elbow range of motion estimation in people with haemophilia using an angle correction model.

INTRODUCTION: The joint range of motion (ROM) is an important clinical parameter used to assess the loss of functionality resulting from joint bleedings in people with haemophilia. These episodes require a close follow-up and, to decrease patients' hospital dependence, telemedicine tools are needed. Therefore, this study is aimed to analyse the validity of the Microsoft Kinect V2 sensor with corrected angle measurement to be used in the monitoring of elbow ROM in people with haemophilia. METHODS: A convenience sample of 10 healthy controls (CG) and 10 patients with haemophilia with elbow arthropathy (HG) participated in this study. Full ROM of elbow joints was measured in the frontal view with a 10-degree sweep using: (a) a clinical goniometer; (b) the Kinect V2; (c) the Kinect V2 with angle correction; and (d) using a photograph. Bland-Altman graphs (mean and 95% Limits of Agreement [LOA]) and Wilcoxon test were used to determine differences between measurements and groups. RESULTS: The angle-corrected Kinect V2 measurement removed the skew in the original data, reducing the average errors from 7.9° (LoA = -10.3°; 26.0°; CG) and 9.5° (LoA = -7.9°; 26.9°; HG) to -0.1° (LoA = -8.1°; 7.9°; CG) and -0.7° (LoA = -10.7°; 9.3°; HG). CONCLUSIONS: These error levels allow the use of Kinect V2 in the clinical practice. Kinect V2 with angle correction can complement the classical goniometry allowing an efficient and touchless measurement of ROM.

Assessment of haemophilic arthropathy through balance analysis: a promising tool.

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. Fifty-four 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 eyes open/closed. These parameters were used to design a Quadratic Discriminant Analysis classifier. The arthropathy versus non-arthropathy classifier had an overall accuracy of 97.5% when only 10 features were used in its design. Similarly, the haemophiliac versus non-haemophiliac classifier had an overall accuracy of 97.2% when only 7 features were used. In conclusion, an objective haemophilic arthropathy in lower limbs evaluation system was developed by analyzing centre of pressure displacement signals. The haemophiliac vs. non-haemophiliac classifier designed was also able to corroborate the existing differences in postural control between haemophilic patients (with and without arthropathy) and healthy subjects.

Upper-Body Exercises With External Resistance Are Well Tolerated and Enhance Muscle Activity in People With Hemophilia.

BACKGROUND: Conventional nonresisted therapeutic exercises for people with hemophilia involve a careful, low-intensity approach to avoid injuries. Externally resisted exercise is highly efficient for increasing muscle strength in healthy adults but its feasibility for people with hemophilia remains unknown. OBJECTIVE: The purpose of this study was to evaluate muscle activity during upper-body rehabilitation exercises with 2 types of external resistance and without external resistance (conventional) and to examine tolerability, kinesiophobia, and possible adverse effects derived from the session. DESIGN: This was a cross-sectional study. METHODS: Twelve people with hemophilia A/B (11 with severe hemophilia undergoing prophylactic treatment, 1 with mild hemophilia) participated. During the experimental session, participants completed the Tampa Scale of Kinesiophobia and performed 2 exercises-elbow flexion and shoulder abduction-with 3 conditions for each exercise: elastic resistance (externally resisted), free weights (externally resisted), and conventional nonresisted. Surface electromyography signals were recorded for the biceps brachii, triceps brachii, upper trapezius, and middle deltoid muscles. After the session, exercise tolerability and kinesiophobia were assessed. Adverse effects were evaluated 24 and 48 hours after the session. RESULTS: Externally resisted exercises provided greater muscle activity than conventional nonresisted therapeutic exercises. The exercises were generally well tolerated and there was no change in kinesiophobia following the session. No adverse effects were observed in the following days. LIMITATIONS: Small sample size was the main limitation. CONCLUSIONS: In people with severe hemophilia undergoing prophylactic treatment, elbow flexion and shoulder abduction exercises with external resistance at moderate intensities are feasible and provide greater muscle activity than nonresisted conventional exercises.

Changes in Muscle Activity Patterns and Joint Kinematics During Gait in Hemophilic Arthropathy.

Hemophilic arthropathy is the result of repetitive intra-articular bleeding and synovial inflammation. In people with hemophilic arthropathy (PWHA), very little is known about the neural control of individual muscles during movement. The aim of the present study was to assess if the neural control of individual muscles and coordination between antagonistic muscle pairs and joint kinematics during gait are affected in PWHA. Thirteen control subjects (CG) walked overground at their preferred and slow velocity (1 m/s), and 14 PWHA walked overground at the preferred velocity (1 m/s). Joint kinematics and temporal gait parameters were assessed using four inertial sensors. Surface electromyography (EMG) was collected from gluteus maximus (GMAX), gluteus medius (GMED), vastus medialis (VM), vastus lateralis (VL), rectus femoris (RF), medial gastrocnemius (MG), lateral gastrocnemius (LG), soleus (SOL), tibialis anterior (TA), semitendinosus (ST), and biceps femoris (BF). Waveforms were compared using the time-series analysis through statistical parametric mapping. In PWHA compared to CG, EMG amplitude during the stance phase was higher for LG (for both velocities of the CG), BF (slow velocity only), and ST (preferred velocity only) (p < 0.05). Co-contraction during the stance phase was higher for MG-TA, LG-TA, VL-BF, VM-ST, LG-VL, and MG-VM (both velocities) (p < 0.05). MG and LG were excited earlier (preferred velocity only) (p < 0.05). A later offset during the stance phase was found for VL, BF, and ST (both velocities), and BF and GMAX (preferred velocity only) (p < 0.05). In addition, the range of motion in knee and ankle joints was lower in PWHA (both velocities) and hip joint (preferred velocity only) (p < 0.05). In conclusion, the neural control of individual muscles and coordination between antagonistic muscles during gait in PWHA differs substantially from control subjects.

Joint status in Spanish haemophilia B patients assessed using the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score.

AIM: The use of musculoskeletal ultrasound (MSK-US) following protocols for haemophilic arthropathy and the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score can help standardize monitoring in haemophilia. This study evaluated the joint status (elbows, knees and ankles) of patients with haemophilia B (HB) in Spain using MSK-US and the HEAD-US score. METHODS: Haemophilia B patients ≥14 years old were included in this observational, multicentre, cross-sectional study, regardless of their clinical condition, HB severity and treatment received. Two blinded observers were involved in image acquisition and scoring in each centre. RESULTS: Eighty-two patients from 12 centres were enrolled: 27% mild HB, 23% moderate, 50% severe HB. Mean age was 38.9 ± 16.4 years, 60% were treated on demand (OD) and 40% were on prophylaxis. HEAD-US was zero in all joints in 28.6% OD patients and 36.4% on prophylaxis. Mean scores significantly worsened with HB severity, except for the left knee. Patients on primary and secondary prophylaxis had significantly better joint health vs OD patients in all joints, except the right ankle. Among OD patients, those with severe disease presented significantly worse scores in all HEAD-US items related to permanent damage. CONCLUSION: Joint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD-US system may help to improve joint health by personalizing and adjusting treatment in this population.