Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bones. Our work underscores the need to include patient-reported outcomes in rare bone disease research. INTRODUCTION: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting collagen protein leading to brittle bones and a number of other medical complications. To date, there is limited research which examines the life-long process of aging with this rare disease, much less the perspective of individuals with OI. METHODS: In order to explore and prioritize health concerns that adults with OI feel have been inadequately addressed in health care and research, investigators held discussions with leaders from the global adult OI community. The meetings were held in August 2017 at the 13th International Conference on OI in Oslo, Norway as part of the preconference seminar "Patient Participation in OI Research". Investigators were part of the Brittle Bone Disease Consortium (BBDC), a multicenter research program devoted to the study of OI, and their focus was on patient-reported outcomes (PRO). RESULTS: Participants noted that while fractures and brittle bones are the most common feature of OI, a number of body systems are under-studied in this disorder. They particularly emphasized breathing, hearing, and the effects of aging as primary concerns that researchers and physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, and basilar invagination. Participants also emphasized that they must be informed of study results. They underscored that outcome measures incorporated into future drug trials must look beyond fractures and consider the whole patient. CONCLUSIONS: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.

Open versus arthroscopic ankle arthrodesis: a comparative study.

A retrospective review was undertaken for 36 patients who underwent ankle arthrodesis. Nineteen patients underwent an arthroscopic ankle arthrodesis, and 17 patients underwent an open arthrodesis. Only patients with limited angular deformities were suitable candidates for an arthroscopic arthrodesis. The open arthrodesis group inclusion criteria were defined by the maximum coronal and sagittal plane deformity in the arthroscopic group. Perioperative parameters were compared and analyzed. Arthroscopic ankle arthrodesis yielded comparable fusion rates to open ankle arthrodesis, with significantly less morbidity, shorter operative times, shorter tourniquet times, less blood loss, and shorter hospital stays. Arthroscopic ankle arthrodesis is a valid alternative to traditional open arthrodesis of the ankle for selected patients with ankle arthritis.

Extraosseous manifestations of rheumatoid arthritis in the foot and ankle.

The immune mediated pathologic effects of rheumatoid arthritis on osteoarticular tissues are well delineated in the orthopaedic and medical literature. Less well explored are the extraosseous manifestations of rheumatoid arthritis. The rheumatoid disease process can affect virtually any organ system or tissue in the human body; from scleritis, arteritis, and splenomegaly to neuropathy, bursitis, and tendinopathy. The scope of this treatise is to define better for the clinician the extraosseous presentation of rheumatoid arthritis in the foot and ankle.