Bone Abstracts

Objectives: To evaluate the frequency of low serum alkaline phosphatase (ALP) activities in patients referred to a tertiary children’s hospital. Another item was to explore potentially missed diagnoses and to evaluate the role of laboratory screening for hypophosphatasia.Study design: A retrospective evaluation over an 6-year period (between December 2010 and December 2016) carried out to identify children and adolescents, referred to Anna Meyer Chi...

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

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Sclerostin (SCL) and FGF23 are osteocyte-secreted factors with a major role in bone homeostasis. Despite their skeletal effects and their association with fracture risk in some studies, variations in circulating levels were also described in patients with diabetes (DM), chronic renal failure (CRF) and/or cardiovascular disease (CVD). In order to provide further insight on the relationship between these osteocyte-derived factors, osteoporosis and cardio-metabolic disorders we a...

Objectives: Impairment of bone mass accrual and alterations of bone metabolism is a common finding in HIV-infected youths. In particular, previous studies demonstrated higher bone formation and bone resorption rates in HIV-infected children and adolescents. Wnt ligands promote bone formation by stimulating osteoblast differentiation and their survival. Recent studies demonstrated that sclerostin (Scl) and dickkopf factor 1 (DKK-1), Wnt antagonists, are important negative regul...

Objective: Sclerostin, product of the SOST gene, is an important determinant of bone formation and resorption. Rett patients, frequently present marked decreases in bone mineral density (BMD) beyond that expected from disuse atrophy. However, sclerostin has not been yet examined in Rett subjects as a potential mediator of impaired bone metabolism.Methods: This study aimed to investigate whether there is any associations between sclerostin levels, body co...

Acute phase reaction (APR) is the most frequent side effect following i.v. nitrogen-containing bisphosphonates (N-BPs) infusion. A recent observation in osteoporotic women treated with N-BPs evidenced a negative association between 25(OH)D levels and APR, likely due to the immuno-modulatory effects of vitamin D on γδTcells. However, this association remains to be demonstrated in patients with Paget’s disease of bone (PDB). Moreover whether vitamin D supplementat...

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...