18 research outputs found

    sj-docx-1-han-10.1177_15589447241231311 – Supplemental material for Predictors of True Scaphoid Fractures in Children

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    Supplemental material, sj-docx-1-han-10.1177_15589447241231311 for Predictors of True Scaphoid Fractures in Children by Daniel Milad, Aneesh Karir, Kevin Smit, Sasha Carsen and Kevin Cheung in HAND</p

    Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour

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    We describe the clinical evolution of a patient with tumoral calcinosis due to a pathogenic variant in the GALNT3 gene presented with a large mass overlying her left hip associated complicated by inflammatory flares. Therapy (sevelamer, acetazolamide, and probenecid) was unsuccessful in preventing tumour surgeries, therefore, interleukin-1ÎČ monoclonal antibody therapy was added; this was successful in the prevention of tumour re-growth. This case highlights the importance of assessing and treating the inflammatory aspect of calcinotic tumour

    Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

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    Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets. We report a 2-year, 10-month-old girl with CSHS treated with burosumab, a novel human monoclonal antibody targeting FGF23. This approach was associated with rickets healing, improvement in growth and lower limb deformity, and clinically significant benefit to her functional mobility and motor development. This case report provides evidence for the effective use of FGF23-neutralizing antibody therapy beyond the classic FGF23-mediated disorders of X-linked hypophosphatemia and tumor-induced osteomalacia

    Unravelling the hip pistol grip/cam deformity: Origins to joint degeneration

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    This article reviews a body of work performed by the investigators over 9 years that has addressed the significance of cam morphology in the development of hip osteoarthritis (OA). Early hip joint degeneration is a common clinical presentation and preexisting abnormal joint morphology is a risk factor for its development. Interrogating Hill's criteria, we tested whether cam-type femoroacetabular impingement leads to hip OA. Strength of association was identified between cam morphology, reduced range-of-movement, hip pain, and cartilage degeneration. By studying a pediatric population, we were able to characterize the temporality between cam morphology (occurring 1st) and joint degeneration. Using in silico (finite element) and in vivo (imaging biomarkers) studies, we demonstrated the biological plausibility of how a cam deformity can lead to joint degeneration. Furthermore, we were able to show a biological gradient between degree of cam deformity and extent of articular damage. However, not all patients develop joint degeneration and we were able to characterize which factors contribute to this (specificity). Lastly, we were able to show that by removing the cam morphology, one could positively influence the degenerative process (experiment). The findings of this body of work show consistency and coherence with the literature. Furthermore, they illustrate how cam morphology can lead to early joint degeneration analogous to SCFE, dysplasia, and joint mal-reduction post-injury. The findings of this study open new avenues on the association between cam morphology and OA including recommendations for the study, screening, follow-up, and assessment (patient-specific) of individuals with cam morphology in order to prevent early joint degeneration. Statement of significance: By satisfying Hill's criteria, one can deduct that in some individuals, cam morphology is a cause of OA

    From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

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    Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the ACAN gene, is important for cartilage structure and function. We describe the clinical evolution of a patient with short stature, multi-focal OCD, and subchondral osteopenia that appeared linked to a novel pathogenic ACAN variant. A multi-disciplinary approach including medical (bisphosphonate) therapy, surgical intervention and rehabilitation were successful in restoring wellness and physical function

    Arthroscopic surgical procedures versus sham surgery for patients with femoroacetabular impingement and/or labral tears : Study protocol for a randomized controlled trial (HIPARTI) and a prospective cohort study (HARP)

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    STUDY DESIGN: Study protocol for a randomized controlled trial and a prospective cohort. BACKGROUND: The number of arthroscopic surgical procedures for patients with femoroacetabular impingement syndrome (FAIS) has significantly increased worldwide, but high-quality evidence of the effect of such interventions is lacking. OBJECTIVES: The primary objective will be to determine the efficacy of hip arthroscopic procedures compared to sham surgery on patient-reported outcomes for patients with FAIS (HIP ARThroscopy International [HIPARTI] Study). The secondary objective will be to evaluate prognostic factors for long-term outcome after arthroscopic surgical interventions in patients with FAIS (Hip ARthroscopy Prospective [HARP] Study). METHODS: The HIPARTI Study will include 140 patients and the HARP Study will include 100 patients. The international Hip Outcome Tool-33 will be the primary outcome measure at 1 year. Secondary outcome measures will be the Hip disability and Osteoarthritis Outcome Score, Arthritis Self-Efficacy Scale, fear of movement (Tampa Scale of Kinesiophobia), Patient-Specific Functional Scale, global rating of change score, and expectations. Other outcomes will include active hip range of motion, hip muscle strength tests, functional performance tests, as well as radiological assessments using radiographs and magnetic resonance imaging. CONCLUSION: To determine the true effect of surgery, beyond that of placebo, double-blinded placebo-controlled trials including sham surgery are needed. The HIPARTI Study will direct future evidence-based treatment of FAIS. Predictors for long-term development and progression of degenrative changes in the hip are also needed for this young patient group with FAIS; hence, responders and nonresponders to treatment could be determined
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