Bone Abstracts

Changes in the ability of self-renewal and differentiation of mesenchymal stem cells may be affected by osteoporosis. The aim of this investigation was to compare the transcriptional profile of mRNAs and miRNAs of osteoblastic cells from calvaria and bone marrow of female rats after ovariectomy. Following the approval by ethics committee, 18 wistar rats were divided into control (sham) and ovariectomized groups. After 150 days, both groups were sacrificed to collect the femurs...

It is well known that thyroid hormone (TH) is essential for normal bone growth and development. However, the mechanisms by which TH regulates these processes are poorly understood. Recently, the sympathetic nervous system (SNS) was identified as a potent regulator of bone metabolism. In vivo studies by our group have shown that TH interacts with the SNS to regulate bone mass and structure, and that this interaction involves α2 adrenoceptor (α2-A...

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...

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...

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...

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...

Objectives: Burosumab is an anti-FGF23 fully human monoclonal antibody, recently approved for the treatment of X-linked hypophosphatemia (XLH), presenting a novel treatment approach compared to conventional therapy (CT), composed of oral phosphate and active vitamin D. The objective of this study is to perform a Multi-Criteria Decision Analysis (MCDA) to assess the value of burosumab for the treatment of paediatric patients with XLH in Portugal, in comparison to CT.<p clas...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary disorder characterized by isolate renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25(OH)2D3 levels. ADHR is caused by mutations in FGF23 protein that actively regulates phosphate homeostasis. In contrast to X-linked dominant hypophosphatemic rickets, ADHR shows incomplete penetrance, variable age at onset, and in rare cases resolution of the phosphate-wasting defect...

The quantitative ultrasound (QUS) of the proximal phalanges has been used for the indirect evaluation of bone status. Furthermore, the relative simplicity and non-exposure to radiation, presents advantages for the use of QUS compared to other methods in children and adolescents. The aim of this study was to determine the influence of age and pubertal development on Amplitude Dependent Speed Sound (AD-SoS) assessed by QUS of proximal phalanges in girls and boys aged 10–15 ...

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...