Bone Abstracts

Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start...

Background: The traditional Inuit diet in Greenland consists mainly of fish and marine mammals. The marine diet is an important source for vitamin D in Greenland. Vitamin D has anti-inflammatory capacity but markers of inflammation were high in Inuit with a high intake of marine food items. Yet, the effect of vitamin D on inflammation in Inuit remains unsettled.Objectives: To investigate the association between vitamin D and markers of inflammation in a ...

The quantum leaps in scientific progress have frequently come from technological innovations, which can be referred to as the technology push. In the life-sciences this has been exemplified by the emergence of all kinds of ‘omics’ technologies reflecting the capacity to analyse complete and complex molecular mixtures in a hypothesis-free approach, also known as ‘fishing expeditions’ by more sceptical fellow scientists. Such approaches have been developed fo...

Objectives: The aim of the study was to establish features of macroelemental composition of the dentin in mature male rat’s mandibular incisors with biogenic hydroxyapatite, implanted in the proximal part of tibial shaft.Material and methods: One hundred and twenty-six mature male rats were divided into three groups: 1st group – intact animals, 2nd group – animals with the pit defect applied on the proximal part of tibial shaft (systematic...

Objectives: Nutritional Rickets (NR) is the commonest cause of rickets worldwide. Although the prevalence of rickets has been widely reported to be increasing, the actual national incidence of NR in the United Kingdom (UK) is unknown.Methods: Retrospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit (BPSU) reporting methodology. Clinicians completed an online...

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Rheumatoid arthritis (RA) is marked by the persistent inflammation and osteodestruction, causing progressive disability. Osteoclast progenitors (OCPs) represent a subpopulation of peripheral blood monocytes and have been shown to be present in healthy subjects and arthritic patients. The aim of our study was to determine the phenotype, frequency and osteoclastogenic potential of OCPs in the peripheral blood and synovial fluid of RA patients in response to anti-TNF therapy....

There is discussed an interrelation of BMD, progressing of erosive and destructive changes in hands and feet with development of vertebral deformations in rheumatoid arthritis (RA).The aim: To receive data on bone mineral density (BMD), erosive and destructive changes in hands and feet and vertebral deformations in patients with RA.Materials/methods: In this research, it was included 106 women, with RA, age 23–69 years. In all...

Objectives: To evaluate bone health and body composition in Greek patients with Duchenne muscular dystrophy (DMD), hypothesizing that prepubertal patients would not be fatter than controls, given the Greek obesity epidemic. Greece ranks among the first countries in overweight and obesity prevalence globally; 30 and 13% of childhood population respectively.Methods: Cross-sectional study, conducted at the Greek Institute of Child Health (Athens) over a 2-y...