Association between hip joint impingement and lumbar disc disease in elite rowers

Objectives Lumbar disc disease is a known cause of back pain. Increasingly it is thought that cam morphology of the hip may have a causal role in development of lumbar disc disease. The aim of this study was to describe the morphology of the hip and investigate the association of cam morphology with lumbar disc disease observed on MRI in elite rowers. Methods Cross-sectional observational study of 20 elite rowers (12 male, 8 female, mean age 24.45, SD 2.1). Assessment included clinical examination, questionnaires, 3T MRI scans of the hips and lumbar spine. Alpha angle of the hips and Pfirrmann score of lumbar discs were measured. Results 85% of rowers had a cam morphology in at least one hip. Alpha angle was greatest at the 1 o’clock position ((bone 70.9 (SD 16.9), cartilage 71.4 (16.3)). 95% of the group were noted to have labral tears, but only 50% of the group had history of groin pain. 85% of rowers had at least one disc with a Pfirrmann score of 3 or more and 95% had a history of back pain. A positive correlation was observed between the alpha angle and radiological degenerative disc disease (correlation coefficient=3.13, p=0.012). A negative correlation was observed between hip joint internal rotation and radiological degenerative disc disease (correlation coefficient=−2.60, p=0.018). Conclusions Rowers have a high prevalence of labral tears, cam morphology and lumbar disc disease. There is a possible association between cam morphology and radiological lumbar degenerative disc disease, however, further investigation is required

Partial mid-portion Achilles tear resulting in substantial improvement in pain and function in an amateur long-distance runner

This case presents symptom resolution for a long-distance runner with chronic Achilles tendinopathy (AT), following a partial tear of his Achilles tendon. The patient reported a sudden pain during a morning run, with preserved function. Three hours postinjury, he was reviewed in a musculoskeletal clinic. An ultrasound scan confirmed a partial Achilles tear, associated with significant Doppler activity. His index of AT severity The Victorian Institute of Sports Assessment - Achilles Questionnaire (VISA-A) 4 hours postinjury was markedly higher compared with 2 weeks preinjury, indicating reduced symptom severity. A follow-up scan 4 weeks postinjury showed minimal mid-portion swelling and no signs of the tear. His VISA-A score showed continued symptom improvement. This case represents resolution of tendinopathic symptomatology post partial Achilles tear. While the natural histories of AT and Achilles tears remain unknown, this case may indicate that alongside the known role of loading, inflammation may be a secondary mediator central to the successful resolution of AT pain

Suprapatellar synovial hypertrophy and reliability of the novel ultrasound assessment of suprapatellar recess in patients with recent knee injuries or early osteoarthritis

Purpose: Early through to late stage knee osteoarthritis (KOA) has been linked with effusion-synovitis in the suprapatellar pouch and chronic inflammation has been particularly associated with pain. Recent studies also suggest that synovial hypertrophy (SH), especially when seen in the suprapatellar pouch or Hoffa's fat pad, is an independent predictor for development of radiographic KOA. Persistent SH has been reported in post-traumatic knees. Ultrasound (US) assessment has great potential value as a non-invasive, practical method of measuring chronic inflammation and monitoring response to treatment, both clinically and in future trials. The US technique is an operator-dependent technique and reliability of a standardised US protocol in measuring SH and suprapatellar effusion (SE) has not been investigated in populations at risk of KOA.Methods: Aim: to investigate differences between degree of SH in affected and contralateral knees, and examine the intra- and inter-rater reliability of the novel US assessment of suprapatellar SH and SE in a population at risk of KOA.Participants: 57 patients with unilateral knee injuries or post-surgery on ligaments, cartilage and/or tendons were recruited from a single centre over a 6-month period. The exclusion criteria included: joint replacement, known inflammatory arthritis or known radiographic KOA defined as Kellgren and Lawrence of 2 or more in the affected knee.Protocol: each participant had US assessments of both knees performed on the same day by two physicians trained in performing musculoskeletal US and/or two US assessments performed by the same physician 3 days apart. Participants were examined in the supine position, the neutral knee position (preferably 0°), with maximum comfortable quadriceps contraction for the participant. The US probe was applied above the patella in the midline position to visualise in each knee all main structures on long-axis plane in the suprapatellar region: quadriceps tendon, pre-femoral and suprapatellar fat pads as well as shadows of patella and femur. A minimum of 6 images of each suprapatellar pouch in pre-defined region-of-interest (ROI) were recorded.Quantitative and semi-quantiative scoring was performed on the largest area of SH and SE defined using the OMERACT definitions. During each image analysis, a straight line at right angles to the reflexion shadow of the femur (long axis) was used for defining vertical axis for measurement of both synovium and effusion. The highest values for SH and SE in mm, from any imaging obtained during the analysis, were used as results for each scan.Results: 266 knee scans were performed. The study population consisted of otherwise healthy, predominantly young Caucasian males (59% were 34 years or younger, 81% were Caucasian and 74% of participants were males). 35% were smokers or ex-smokers. Affected knees had significantly higher values of SH (p[less than]0.001, mean±SD of affected knees: 3.5±2.8 mm, contralateral knees: 1.4±1.1 mm). Intra- and Inter-rater reliability of the semiquantitive scores were excellent when assessed by Cohen's kappa statistics with kappa values between 0.89 (for inter-rated SH) to 0.95 (for intra-rated SH). Inter- and intra-rater agreements for the quantitative method also showed very strong agreements (the Intra-Class Correlation from 0.83 to 0.98).Conclusions: Significantly increased SH has been demonstrated in symptomatic knees compared with contralateral unaffected knees. The study demonstrated very high reproducibility of a new standardised US method of measuring SH and SE in the suprapatellar pouch. External validation of our findings assessing practicality and reproducibility of this protocol is needed. Further correlation between sonographic findings, macroscopic and microscopic features of synovial membrane inflammation in populations at risk of developing KOA will allow us to establish a diagnostic role for this protocol in the future

Tibial cartilage volume of the back leg versus the higher loaded front leg in elite male and female English cricket fast bowlers

The aim of this study was to determine if the fast bowling action in cricket, during which the front leg experiences about twice the loading of the back leg, causes a clinically significant difference in the normalized medial or lateral tibial cartilage volume of the higher loaded front versus the back leg

A longitudinal cohort study of adolescent elite footballers and controls investigating the development of cam morphology

Cam morphology describes an asphericity of the femoral head that develops during adolescence, is highly prevalent in athletes, and predisposes individuals to future osteoarthritis. However, it’s aetiology remains poorly understood. The aim of this study was to perform 3-year longitudinal follow-up of a control population and football club academy cohort to compare the change in hip and growth plate anatomy between athletes and controls. MRI and questionnaires were used to characterise change in hip and growth plate anatomy and quantify activity levels. 121 male academy footballers and 107 male and female controls participated at baseline. Footballers experienced significantly greater increases in femoral head asphericity (4.83 degrees (95% CI: 2.84 to 6.82), p < 0.001) than controls. A positive correlation existed between activity levels and change in femoral head morphology (coefficient 0.79, p  ≤  0.001). Greatest morphological change occurred in individuals aged 11–12 years at baseline, with no significant change in individuals aged 14 years and older at baseline. Cam morphology development was secondary to soft tissue hypertrophy and lateral growth plate extension. In conclusion, excessive loading of the hip joint through exercise prior to 14 years of age may result in growth plate adaptations causing cam morphology. Potential interventions may include training type and load modification in young adolescent football players

SURF1 deficiency:a multi-centre natural history study

BACKGROUND: SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency. METHODS: We conducted a multi-centre case notes review of 44 SURF1-deficient patients from ten different UK centres and two Australian centres. Survival data for LRPPRC-deficient LS and nuclear-encoded complex I-deficient LS patients were obtained from previous publications. The survival of SURF1-deficient patients was compared with these two groups using Kaplan-Meier survival analysis and logrank test. RESULTS: The majority of patients (32/44, 73%) presented in infancy (median 9.5 months). Frequent symptoms were poor weight gain (95%, median age 10 months), hypotonia (93%, median age 14 months), poor feeding/vomiting (89%, median age 10 months), developmental delay (88%, median age 14 months), developmental regression (71%, median age 19 months), movement disorder (52%, median age 24 months), oculomotor involvement (52%, median age 29 months) and central respiratory failure (78%, median age 31 months). Hypertrichosis (41%), optic atrophy (23%), encephalopathy (20%), seizures (14%) and cardiomyopathy (2%) were observed less frequently. Lactate was elevated in CSF (mean 4.3 mmol/L) in all patients (30/30) and in blood (mean 4.4 mmol/L) in 31/38 (81%). Fibroblast COX activity was universally decreased (25/25). Normal COX histochemistry was noted in 30% of biopsies, whereas muscle COX activity was reduced in 96% (25/26). Neuroimaging demonstrated lesions characteristic of LS in 28/33 (85%) and atypical findings in 3/33 (9%). Peripheral neuropathy was present in 13/16 (81%) (demyelinating 7/16, axonal 2/16). Kaplan-Meier analysis demonstrated that SURF1-deficient patients experience longer survival (median 5.4 years, p < 0.001) compared to LRPPRC deficiency (median 1.8 years) and nuclear-encoded complex I-deficient LS (median 1.6 years). Survival >10 years was observed in 7 patients, 6 of these patients did not experience neurological regression. The most frequent mutation was c.312_320del10insAT. Five novel mutations (c.468_469delTC, c.799_800delCT, c.575G>A (p.Arg192Gln), c.751+5G>A and c.752-2A>G) were identified. CONCLUSIONS: SURF1-deficient patients have a homogeneous clinical and biochemical phenotype. Early recognition is essential to expedite diagnosis and enable prenatal diagnosis

The presence of anaemia negatively influences survival in patients with POLG disease

BACKGROUND: Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with haematopoietic dysfunction including anaemia. The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. METHODS: We conducted a multi-national, retrospective study of 61 patients with confirmed, pathogenic biallelic POLG mutations from six centres, four in Norway and two in the United Kingdom. Clinical, laboratory and genetic data were collected using a structured questionnaire. Anaemia was defined as an abnormally low haemoglobin value adjusted for age and sex. Univariate survival analysis was performed using log-rank test to compare differences in survival time between categories. RESULTS: Anaemia occurred in 67% (41/61) of patients and in 23% (14/61) it was already present at clinical presentation. The frequency of anaemia in patients with early onset disease including Alpers syndrome and myocerebrohepatopathy spectrum (MCHS) was high (72%) and 35% (8/23) of these had anaemia at presentation. Survival analysis showed that the presence of anaemia was associated with a significantly worse survival (P = 0.004). CONCLUSION: Our study reveals that anaemia can be a feature of POLG-related disease. Further, we show that its presence is associated with significantly worse prognosis either because anaemia itself is impacting survival or because it reflects the presence of more serious disease. In either case, our data suggests anaemia is a marker for negative prognosis