Bone Abstracts

Background: Periosteal reaction can be a manifestation of various underlying medical conditions, including tumor, infection, trauma, metabolic or genetic diseases.Presenting problem: A 2 year-old male presented for evaluation of periosteal bone formation in symmetrical distribution of proximal humerus, radius, ulnar, femur, and clavicles, noted after having persistent fussiness, irritability and inability to bear weight and use arms for 3 weeks. He had a...

Children with long-standing chronic kidney disease (CKD) display clinical symptoms of bone disease, including boney deformities and fractures, which contribute to long-standing disability. Bone biopsy is the only available method for assessing all three recommended areas of bone histology (turnover, mineralization, and volume) and new techniques in human bone tissue analysis have shed light on the progression of renal ROD throughout the course of CKD, including its early stage...

Biographical DetailsKate Wesseling-Perry, MD, is an Assistant Professor in Pediatric Nephrology at UCLA. Her research is focused on understanding the regulation of skeletal mineralization in patients with all stages of chronic kidney disease. Her research interest is identifying the abnormalities in bone that lead to the early development of renal bone disease....

see PP27....

The re-initiation of developmental processes in osteoarthritis (OA) has emerged with similarities to endochondral ossification; responsible for long bone development. We aimed to establish the role of the Wnt inhibitor, sclerostin in endochondral ossification, and its relationship with MEPE, a calcification inhibitor with potential downstream functions. Knee joints from male Str/ort (spontaneous OA) and age-matched CBA control mice were analysed at 8, 18, and 40+ weeks of age ...

Objectives: Lysosomal diseases (LDs) are a heterogenous group of 40+ genetic disorders that can affect virtually all organs and systems, including the skeletal system. They are often caused by the loss of an enzyme critical for the breakdown of macromolecules in the lysosome, leading to accumulation of these substrates and subsequent lysosomal dysfunction. Enzyme replacement therapy (ERT) is the primary treatment option for many LDs, but several issues hinder the efficacy of t...

Objectives: FGF23 is expressed in clusters of osteocytes at the trabecular periphery suggesting that FGF23-expressing osteocytes are confined to specific basic multicellular units (BMUs) at the trabecular surface. Higher numbers of FGF23-expressing osteocytes are found in chronic kidney disease (CKD) patients with preserved skeletal mineralization indices. We thus combined immunohistochemistry and quantitative backscattered electron imaging (qBEI) to explore the hypothesis tha...

Objectives: Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by low tissue nonspecific alkaline phosphatase activity. HPP manifests a wide spectrum of complications, which may include HPP-related rickets and compromised physical function in children.Methods: We report on clinical gait assessments based on archival video recordings of six children with onset of HPP symptoms at ≧6 months and documented HPP-related skeletal abnor...

Objective: Mobility is an important endpoint in patient care with implications for activities of daily living, community participation, and quality of life. We adapted the performance-oriented mobility assessment (POMA-G),1 a widely used and validated clinical gait assessment tool for adults, to use in children with hypophosphatasia (HPP). HPP is the rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue non-specific alkaline phosp...

The childhood and adolescent years represent a critical period for bone acquisition. Extrinsic factors such as diet and physical activity represent modifiable variables that may have a significant impact on a young adult’s peak bone mass. This lecture will consider dietary supplementation with specific nutrients as a strategy to augment bone density during the childhood and teenage years. An overview will be provided, as well as data reviewed from supplementation trials i...