Bone Abstracts

Genetic factors play an important role in the development of osteoporosis. Several monogenic forms of osteoporosis have been recognized. The most common of these is osteogenesis imperfecta (OI) in which mutations in the genes encoding type 1 collagen (COL1A1 and COL1A2) are responsible for ~90% of the cases. Several rare autosomal recessive forms of OI have also been described. In these the defects lie in proteins involved in posttranslational modification of...

Biographical DetailsDr. Outi Mäkitie received her MD and PhD from the University of Helsinki, Finland where she also completed training in Pediatrics and in Pediatric Endocrinology. After a 3-year post-doctoral clinical and research fellowship at The Hospital for Sick Children in Toronto, Canada, she returned to Finland and served as Head of the Metabolic Bone Clinic, Children’s...

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...

Objectives: A heterozygous missense mutation p. C218G in WNT1 was recently identified as the cause of severe primary osteoporosis (Laine et al., New engl J Med 2013). The mutation has thus far been identified in two large Finnish families presenting with dominantly inherited, early-onset osteoporosis, with affected adult patients showing reduced bone mineral density (BMD), vertebral compression fractures, kyphosis and height loss. This study examined characte...

Children and adolescents with inflammatory bowel disease (IBD) have defects in bone mineral density (BMD) and bone structure that do not completely normalize with clinical remission.The objective of the study was to determine bone turnover marker (BTM) concentrations and factors behind altered bone metabolism in a case-control setting.We measured the bone formation marker PINP and bone resorption markers CTX and TRACP5b in 42 adole...

Objectives: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive disorder caused by mutations in the autoimmune regulator gene resulting in insufficient suppression of autoimmunity. The impact of immunological abnormalities and the resulting endocrinopathies on bone health is largely unknown. We performed a comprehensive evaluation of skeletal parameters in a large cohort of adult patients with APECED.Methods:...

Background: Observations in rodents suggest that osteocalcin (OC) participates in glucose metabolism. Data from human studies are inconclusive and it remains unclear whether OC is simply a marker of bone turnover (BTM) or if it also mediates interactions between the skeleton and glucose homeostasis. This study determined the responses of BTMs, including OC, to oral glucose tolerance test (OGTT) in obese and normal-weight subjects.Materials and methods: P...

Objectives: The skeleton and adipose tissue interact. Our aim was to evaluate the interactions between adipokines and bone metabolism, and their association with disease-related factors in patients with severe juvenile idiopathic arthritis (JIA).Methods: The study included 49 patients (median age 14.8 years, median disease duration 10.2 years) with refractory polyarticular JIA and 89 sex- and age-matched healthy controls. The subjects underwent clinical ...

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

Objectives: Fractures are common in older children. There are only few population-based studies on fractures in infants. Child abuse is a possible trauma mechanism, especially in younger children. New national guidelines for increasing awareness of child abuse and screening for suspected non-accidental traumas in Finland were given in 2003. Our goal was to establish fracture incidence and epidemiologic fracture patterns in children under the age of 1 year.<p class="abstext...