Bone Abstracts

Background: Neonatal hypocalcemia is defined as S-Ca <2 mmol/l in fullterm newborns and <1.75 mmol/l in preterm newborns. Neonatal hypocalcemia is either early onset (<3 days of age) or late onset (>3 days of age). Newborns with hypocalcemia are often asymptomatic, but mays present with hypotonia, apnea, poor feeding, jitteriness, seizures, cardiac failure. Signs of hypocalcemia rarely occur unless S-Ca drops below 1.75 mmol/l.Case presen...

Background: Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign, usually accidentally detected condition characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), its bone or liver isoform, in children under five years of age, without signs of metabolic bone disease or hepatopathy. When encountered in a child with either chronic bone, liver or kidney disease, THI might concern the physician. We present a patient with urol...

Osteogeneses Imperfecta (OI) is a skeletal dysplasia which affects collagen biosynthesis. As with other chronic conditions it is recognised that the heterogeneity of perspectives between parents and health care professionals (HCP) can alter the course of a child’s health outcomes irrespective of the child’s disease. This qualitative study was employed to explore a mother’s lived experience of having a child with OI.Objectives: To gain impr...

Background: Hypocalcaemia can be manifested by paresthesia, muscle cramps, muscle weakness, syncope, convulsions and even severe psychomotor retardation. Suchs symptoms can be initially considered as signs of epilepsy. Fahr’s disease is neurological disorder with neuropsychic changes and convulsions. Fahr’s disease is characterized by central nervous system calcifications caused by mutations in SLC20A2 gene, encoding sodium-dependent phosphate transporter 2 (PiT-2) t...

Crohn’s disease often results in abnormalities in bone strength, and ultimately increases the risk of fragility fracture. Up to 55% of patients with Crohn’s disease have bone mineral density in the osteopenia range up to 50% of osteoporosis. Glucocorticoid is frequently used in the treatment of Crohn’s disease and is associated with osteoporosis and increased fracture risk. It has been reported that osteoporotic fractures in patients with Crohn’s disease ar...

Objectives: • To establish the child and family experience of attending multi-disciplinary clinics within the rare bone disease service at Evelina London Children’s Hospital.• To gain an understanding of the daily challenges the children, young people and families face.• To understand how the tertiary multi-disciplinary team may support the child, young person and family.<p class="ab...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

Perinatal infections appreciably defines the level’s of the neonatal deseases and death rates. The systemic inflammatory response syndrome at the infections can promote the softening of the bone’s tissue in pregnant women and their fetuses.Objectives: Definition of the connection of the level’s calcium-regulated hormones and bone tissue remodeling marker’s in blood at 32 (II) healthy and 48 (I) pregnant women with perinatal infections...

Previous studies have demonstrated that patients with osteoporosis (OP) have a poor understanding of their bone disease and that this negatively influences treatment decisions and medication compliance. The aim of this study is to determine if there is a discrepancy between perceived and objective disease knowledge (PK and OK, respectively) in patients with OP and whether this correlates with certain patient characteristics.Design and methods: After ethi...

The main cause of the bone destruction in rheumatoid arthritis (RA) is a destructive act of aggressively growing pannus, growth and angiogenesis of which are caused by the proliferation of fibroblasts in the synovium (S) due to the activation of fibroblast growth factor (FGF).Objectives: To reveal relationships of FGF with ultrasonic and arthroscopic and proliferative-destructive histological figures in RA.Methods: Complete compreh...