Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p477 | Paediatric bone disease | ECTS2016

Clinical features and targeted gene sequencing analysis of paediatric hypoparathyroidism

Li Yuepeng , Wang Ou , Quan Tingting , Chu Xueying , Xia Weibo , Li Mei , Jiang Yan , Meng Xunwu , Xing Xiaoping

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

ba0005lb14 | (1) | ECTS2016

Mechanical properties of rat tibia bone defect after treatment with latex membrane

Carlos Bruna Leonel , Yanagihara Gabriela Rezende , Yamanaka Jessica Suzuki , Shimano Antonio Carlos

In recent years, latex membrane synthesized from natural latex extracted from rubber tree Hevea brasiliensis, has been studied as an important biomaterial to assist in tissue regeneration process, since it has ability to induce neovascularization and tissue proliferation, and is a low-cost and easy material handling. The aim of this study was to evaluate mechanical properties of bones after treatment with natural latex membrane in bone defects created in the tibiae of...

ba0006p020 | (1) | ICCBH2017

Age at onset of walking affects bone mineral content in early childhood

Valkama Saara , Viljakainen Heli , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Enlund-Cerullo Maria , Helve Otto , Andersson Sture , Makitie Outi

Objectives: The aim of this study was to evaluate the association between the age at onset of walking and bone mineral content (BMC) in healthy 2-year-old children participating in the Vitamin D in Infants Trial (VIDI).Methods: Altogether 253 children (120 girls, 133 boys) with a daily vitamin D3 intake of 10 μg and a sufficient serum 25-hydroxyvitamin D (25-OHD) concentration (>50 nmol/l) were included in the analysis. BMC was measur...

ba0006p024 | (1) | ICCBH2017

Spondyloepiphyseal dysplasia: A rare cause of short stature

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Panagiotopoulos Ioannis , Zambakides Christos , Anagnostou Elli , Papadakis Vassilios , Michalacos Stefanos

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...

ba0006p129 | (1) | ICCBH2017

The case of severe osteoporosis in patient with recessive dystrophic Epidermolysis Bullosa

Balatska Nataliya , Povoroznyuk Vladyslav

Background: Epidermolysis bullosa (BE) is a group of inherited diseases that are characterized by skin and mucosal fragility and blister formation. The various complications such as malnutrition, anemia, growth retardation, esophageal stenosis and deformities may develop. Low bone mass and fractures recognized as complications of generalized forms of EB.Presenting problem: In the Ukrainian medical center of osteoporosis there were examined nine children ...

ba0006p191 | (1) | ICCBH2017

Juvenile hypophosphatasia presenting with short stature: a case report

Ersoy Betul , Atik Ozen

Background: Hypophosphatasia (HPP) is a heterogeneous disease; it can reveal itself at any age, through a wide range of symptoms. Findings of childhood (juvenile) HPP ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. We described a boy with the childhood form of hypophosphatasia presenting with short stature without rickets findings.Case report: An 11-year-old boy wa...

ba0006p195 | (1) | ICCBH2017

Concentrated growth factor for the treatment of intrabony defects in chronic periodontitis in adolescents

Orbak Recep , Orbak Zerrin

Periodontitis is a health condition that involves inflammation of the periodontium, the supporting tissues, bones and ligaments around the teeth. In severe cases, the alveolar bone in the jaw area can become degraded and, without treatment, eventually lead to the loss of teeth. Periodontitis is the primary cause of tooth loss in adults. Regeneration of these tissues has become the most vital aim of periodontal surgery. For this situation, bone greft, syntetic materials and gro...

ba0007p36 | (1) | ICCBH2019

ALPL gene mutation in a family

Vai Silvia , Broggi Francesca , Luisa Bianchi Maria , Ponti Emanuela , Mihalich Alessandra , Maria Di Blasio Anna

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score –3.2) and femoral neck (T-score –2.4), was referred ...

ba0002op13 | (1) | ICCBH2013

Long-term effects of bisphosphonate therapy in children with osteogenesis imperfecta

Biggin Andrew , Zheng Linda , Briody Julie , McQuade Mary , Munns Craig

Objectives: To evaluate the clinical outcomes of intravenous bisphosphonate treatment in children with mild-moderate osteogenesis imperfecta (OI) who had progressed from active bisphosphonate treatment to maintenance therapy for >2 years.Methods: A retrospective review was conducted on 17 patients with mild-moderate OI. Clinical data, fracture history, biochemistry, dual energy X-ray absorptiometry (DXA) parameters, vertebral measurements, bone age a...

ba0002op3 | (1) | ICCBH2013

Calcimimetics as adjunct therapy in XLH: 18 months experience

Alon Uri , Haney Connie

Objective: Based on our preliminary findings, indicating a potential for Cinacalcet (due to its suppression of PTH (CJASN 2008 3 658)), to allow the use of lower doses of oral phosphate (OP) and calcitriol in treating XLH, the objective of this study was to examine its long-term effect as adjunct treatment in children with XLH.Methods: Eight children (F5), ages 7.8–20.9 years (median 13.9), who were already treated by OP an...