Arthroscopic knee anatomy in young achondroplasia patients.

PURPOSE: Achondroplasia is the most common form of skeletal dysplasia, affecting more than 250 000 individuals worldwide. In these patients, the developing knee undergoes multiple anatomical changes. The purpose of this study was to characterise the intra-articular knee anatomy in children with achondroplasia who underwent knee arthroscopy. METHODS: Records of achondroplasia patients who underwent knee arthroscopy between 2009 and 2014 were reviewed. Demographic data, operative reports, follow-up notes, MRI and arthroscopy images were reviewed. Bony, cartilaginous and ligamentous changes were noted. The trochlea sulcus angle was measured from intra-operative arthroscopic images. RESULTS: A total of 12 knee arthroscopies in nine patients were performed. The mean age at surgery was 16.9 years (12 to 22). In all patients, the indication for surgery was knee pain and/or mechanical symptoms that were refractory to non-operative treatment. Three anatomical variations involving the distal femur were found in all knees: a deep femoral trochlea; a high A-shaped intercondylar notch; and a vertically oriented anterior cruciate ligament. The average trochlea sulcus angle measured 123°. Pathology included: synovial plica (one knee); chondral lesions (three knees); discoid lateral meniscus (11 knees); and meniscal tears (six knees). All patients were pain-free and returned to normal activity at final follow-up. CONCLUSION: Children with achondroplasia have characteristic distal femur anatomy noted during knee arthroscopy. These variations should be considered normal during knee arthroscopy in these patients. Arthroscopic findings confirmed previous MRI findings within this specific population with the addition of a deep trochlear groove which was not previously reported.

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.

PURPOSE: Intramedullary rodding is indicated for patients with osteogenesis imperfecta (OI) to manage deformity and help treat recurrent fractures. Historically, the focus of intramedullary stabilisation has been the lower extremity. Here we report our experience of intramedullary rodding of the humerus and forearm in children with OI and its impact on the fracture rate of those bone segments. PATIENTS AND METHODS: This is a retrospective chart review of all OI patients who have undergone re-alignment and intramedullary rodding of the humerus or forearm between October 1994 and February 2016. Patient demographics, surgical information, complications and pre-operative and post-operative fracture rates were gathered. RESULTS: A total of 45 upper extremity segments (26 humeri, 19 forearms) were rodded at an average age of 8.7 years (3.1 to 19.2). Of these, 15 (33.3%) of the bone segments required a return to the operating room at a mean 30.8 months (1 to 90) post-operatively. Fracture data was available for 24 of the bone segments. The average number of pre-operative and post-operative fractures was 3.58 (SD 2.84) and 0.46 (SD 0.72) respectively. The average pre-operative and post-operative fracture rates were 0.87 fractures/year (SD 0.47) and 0.10 fractures/year (SD 0.16) respectively. CONCLUSION: In this OI population, re-alignment and rodding appeared to reduce the fracture rate of the humerus and forearm. Among our population, one third returned to the operating room and one fifth required revision to a new intramedullary implant. This data may help families better understand the potential outcomes of upper extremity realignment and rodding and its effect on the rate of upper extremity fractures.

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.

PURPOSE: Osteogenesis imperfecta (OI) predisposes to recurrent fractures. Patients with the moderate to severe forms of OI present with antenatal fractures, and the mode of delivery that would be safest for the fetus is not known. METHODS: We conducted systematic analyses of the largest cohort of individuals with OI (n = 540) enrolled to date in the OI Linked Clinical Research Centers. Self-reported at-birth fracture rates were compared among individuals with OI types I, III, and IV. Multivariate analyses utilizing backward-elimination logistic regression model building were performed to assess the effect of multiple covariates, including method of delivery, on fracture-related outcomes. RESULTS: When accounting for other covariates, at-birth fracture rates did not differ based on whether delivery was by vaginal route or by cesarean delivery (CD). Increased birth weight conferred higher risk for fractures irrespective of the delivery method. In utero fracture, maternal history of OI, and breech presentation were strong predictors for choosing CD. CONCLUSION: Our study, the largest to analyze the effect of various factors on at-birth fracture rates in OI, shows that CD is not associated with decreased fracture rate. With the limitation that the fracture data were self-reported in this cohort, these results suggest that CD should be performed only for other maternal or fetal indications, not for the sole purpose of fracture prevention in OI.Genet Med 18 6, 570-576.

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Osteogenesis imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of OI, there have been no large-scale natural history studies. To better understand the natural history and improve the care of patients, a network of Linked Clinical Research Centers (LCRC) was established. Subjects with OI were enrolled in a longitudinal study, and in this report, we present cross-sectional data on the largest cohort of OI subjects (n = 544). OI type III subjects had higher prevalence of dentinogenesis imperfecta, severe scoliosis, and long bone deformities as compared to those with OI types I and IV. Whereas the mean lumbar spine area bone mineral density (LS aBMD) was low across all OI subtypes, those with more severe forms had lower bone mass. Molecular testing may help predict the subtype in type I collagen-related OI. Analysis of such well-collected and unbiased data in OI can not only help answering questions that are relevant to patient care but also foster hypothesis-driven research, especially in the context of 'phenotypic expansion' driven by next-generation sequencing.

Plasma antidiuretic hormone (ADH) concentrations in cattle, during various water and feed regimes.

Twelve steers of three different breeds were exposed to five feed and water regimes in order to characterize changes in plasma antidiuretic hormone (ADH) concentrations. No breed differences were found in plasma ADH concentration. Plasma ADH concentration rose (4.2 to 22.0 pg/ml) during dehydration. By 3 hr hydration, plasma ADH concentrations dropped dramatically (over 50%) to 9.2 pg/ml. No changes in plasma ADH concentrations occurred during feed restriction and refeeding. Hematocrit percentages were also determined and differences are hypothesized to relate to probable differences in environmental adaptability and genetic selection for meat or milk production among the three breeds.