Bone Abstracts

The purpose of this study was to analyze the influence of diet supplemented with hydrosoluble soy extract – HSE in bone mass of male and healthy Wistar rats. Sixteen (16) 30 days old animals were kept in controlled conditions with light/dark cicle and fed with commercial food and filtered water. Randomized into two groups: control group received 500 ml of water and 300 g of food, daily; supplemented group S, in addition of water and food, they also received 500 ml of soy ...

Objective: The purpose of this study was to verify the influence of age, body mass and stature on the functionality level of children with Osteogenesis Imperfecta (OI). METHODS: Thirty-eight children (8.21±4.26 years, 19 girls and 52.6% OI type III) were evaluated during their hospitalization for Pamidronate intravenous infusion in the Brazilian Midwest reference hospital for OI treatment (University Hospital of Brasília). Body weight and stature were measured and ca...

Objective: To characterize a group of children with Osteogenesis Imperfecta (OI) followed up at the University Hospital of Brasília (HUB), Brazil.Methods: Data were collected with children and adolescents that were hospitalized in the HUB for intravenous pamidronate infusion treatment. This hospital is an OI reference center of the Midwest region in Brazil. The sample consisted of thirty-eight subjects, of which 50% were female. 52% of the children ...

Objectives: This study aimed to correlate handgrip strength and functionality of children with Osteogenesis Imperfecta (OI).Methods: Thirty-eight children and adolescents with different types of OI were single-timed evaluated during their hospitalization for pamidronate intravenous infusion at the University Hospital of Brasília, Brazil. This hospital is the Brazilian Midwest reference for OI treatment through the national health system. These child...

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...

ADO2 is a debilitating genetic bone disease causing multiple fractures and other severe symptoms. A mouse model of ADO2, harbouring the heterozygous Clcn7G213R gene mutation, phenocopies the human syndrome. The Clc7 gene encodes the ClC7 dimeric 2Cl−/1H+ antiporter that is almost ubiquitously expressed, although the mutations hit especially the osteoclasts impairing bone resorption. By immunofluorescence, we observed that the mutant ClC7 ...

Objectives: Vitamin D has an important effect on bone but there are no trials that directly address the boosting of serum levels of 25-hydroxyvitamin D (25OHD) in bone microarchitecture in Juvenile-onset Systemic Lupus patients (JoSLE). The aim of this study was to evaluate the effect of vitamin D supplementation on bone microarchitecture parameters using HR-pQCT in JoSLE patients.Methods: This study was a randomized double-blind placebo-controlled 24-we...