Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p374 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Long term follow-up of fracture incidence and fracture prediction from bone mineral density

Trajanoska Katerina , de Jonge Ester A L , Kieboom Brenda C T , Mulder Marlies , Stricker Bruno H C , Franco Oscar H , Uitterlinden Andre G , Rivadeneira Fernando

Introduction: Due to the ‘greying’ of (industrialized) societies the incidence of osteoporosis and fragility fractures is expected to be increasing. Our aim was to investigate in an elderly population if the incidence of non-vertebral fractures (overall and site specific) has changed after a longer follow-up, and its relation with osteoporosis or osteopenia assessed by bone mineral density (BMD) at baseline.Methods: Incident non-vertebral fract...

ba0003pp223 | Osteoporosis: evaluation and imaging | ECTS2014

Bone mineral density and bone turnover markers in patients with thyroid cancer and L-T4 suppressive therapy after 25 years of follow-up

de Mingo Dominguez Maria Luisa , Iglesias Sonsoles Guadalix , Alvarez Maria Begona Lopez , Diaz-Guerra Guillermo Martinez , Carranza Federico Hawkins

Background: Patients with differentiated thyroid cancer (DTC) are treated with L-thyroxine (L-T4) in relatively hight doses to suppress endogenous TSH levels. Very long-term effect of thyroid hormones supplementation on bone are controversial.Objetive: To study the possible negative effects on bone mineral density (BMD) and bone markers in DTC patients followed in our center.Methods: A 46 po...

ba0005cabs.op1.3 | Oral Poster Talks | ECTS2016

Cripto/Grp78 drive the metastatic phenotype in human osteotropic prostate cancer

Zoni Eugenio , Chen Lanpeng , Granchi Zoraide , Karkampouna Sofia , La Manna Federico , Verhoef Ester , Pelger Rob , Snaar-Jagalska Ewa , van Leenders Geert , Beimers Lijkele , Kloen Peter , Gray Peter , van der Pluijm Gabri , Kruithof-de Julio Marianna

Prostate cancer is the most prevalent cancer in men and metastatic spread to bone is detected in up to 80% of patients with advanced disease at autopsy. PCa can progress from treatable androgen-dependent stage to castration-resistant stage with distant metastases for which novel therapeutic targets and strategies are urgently needed. Here we identify the cell surface/secreted oncoprotein Cripto as a potential target for the diagnosis and treatment of metastatic prostate cancer...

ba0004p101 | (1) | ICCBH2015

X-linked spinal muscular atrophy caused by de novo c.1731C>T substitution in the UBA1 gene

Jedrzejowska Maria , Kostera-Pruszczyk Anna , Jakubowska-Pietkiewicz Elzbieta

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

ba0003pp143 | Cell biology: osteoblasts and bone formation | ECTS2014

Utilization of L-mimosine in pulp regeneration: lessons from cell culture and tooth slice organ cultures

Muller Heinz-Dieter , Trimmel Katharina , Cvikl Barbara , Gruber Reinhard , Agis Hermann

After trauma or carious lesion dental pulp healing is difficult to predict. In addition systemic diseases like diabetes mellitus can impair the regenerative capacity. New regenerative strategies target prolyl hydroxylase (PHD) by pharmacological inhibitors to stimulate hard and soft tissue healing. PHD inhibitors such as L-mimosine (L-MIM) induce vascular endothelial growth factor (VEGF) production by promoting angiogenesis. However, it is unclear if L-MIM is a feasible tool t...

ba0006p107 | (1) | ICCBH2017

A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism

Doulgeraki A. , Costantini A. , Kampe A. , Karavitakis E. , Jantti N. , Krallis P. , Athanasopoulou H. , Xaidara A. , Makitie O.

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

ba0004p179 | (1) | ICCBH2015

An atypical case of bone fragility and dysmorphism with an unusual and novel de novo COL1A1 mutation

Skae Mars , Rauch Frank , Mughal Zulf , Sims Jo , Davis Naomi , Scott B , Arundel Paul , Hobson Emma

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

ba0001pp32 | Bone biomechanics and quality | ECTS2013

Vitamin D levels of >85 nmol/l in the presence of adequate dietary Ca minimise bone turnover and improve bone strength

O'Loughlin Peter , Lee Alice , Anderson Paul , Steck Roland , Forwood Mark , Sawyer Rebecca , Morris Howard

We have reported femoral osteopenia in short term-vitamin D restricted rats without deterioration in tibial cortical bone volume (CBV), geometry or strength1. This study aimed to establish the effect of extended vitamin D deficiency in aged rat tibial volume and strength. Female Sprague-Dawley rats (9 m, n=6/group) were fed a diet containing varying vitamin D3 (D) levels (0, 2, 12, and 20 IU/day) with either low (0.1%, LCa) or high (1%, HCa) diet...

ba0005p155 | Cell biology: osteoblasts and bone formation | ECTS2016

L-Carnitine facilitates mitochondrial activity and osteogenic differentiation in human primary osteoblast culture

Vacante Fernanda , Montesano Anna , Spinello Alice , Bolamperti Simona , Senesi Pamela , Terruzzi Ileana , Luzi Livio , Villa Isabella , Rubinacci Alessandro

Osteoblasts have a high rate of energy consumption during bone formation and bone protein synthesis. Therefore, it is likely that decreased energy production that accompanies aging, could contribute to reduced osteoblast activity, a critical feature of senile osteoporosis, and that this reduction might be counteracted by favoring energy availability. Cells of the osteoblastic lineage generate 40–80% of the requested energy through fatty acid degradation, thus the modulati...

ba0002p26 | (1) | ICCBH2013

Improvement in genu valgus deformity in hypophosphatemic rickets due to primary de Toni-DebrDebré-Fanconi syndrome treated with phosphate, calcitriol and alkali therapy

Bowden Sasigarn , Patel Hiren , Beebe Allan , McBride Kim

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...