Bone Abstracts

Objective: This study aimed to evaluate the efficacy of the treatment with pamidronate disodium (PD) with respect to the increase of bone mineral density (BMD) in patients with osteogenesis imperfecta (OI).Patients and methods: We evaluated nine patients (six boys) with OI (four with type III, four with type IV, one with type I) treated with PD from 4.68 to 7.92 years (mean±S.D.: 6.75±1.38 years). Intravenous PD was administered ...

The purpose of this study was evaluated the osteogenic differentiation in vitro of mesenchymal stem cells (MSC) of SHR (Spontaneously Hypertensive Rats) and Wistar (Normotensive) rats.Therefore, MSC from femoral bone marrow of Wistar and SHR rats 4 weeks old were utilized. The experimental protocols were approved by the Animal Experiments Local Ethics Committee (Process 00716-2012). The osteogenic medium (OM) consist of the proliferation medium (MEM) supplemented with...

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...

Osteocalcin (OC) plays crucial roles in glucose homeostasis. OC level in the circulation appears to be associated with glucose and fat metabolism – Although still it remains controversial if it are the levels of total OC and/or undercarboxilated OC (ucOC) which present such association. The present study evaluated the levels of ucOC, total OC, leptin and insulin, in 226 overweight or obese (degree I and II) adult non-diabetic women, having levels of glucose (80–110 m...

Aim: Human gut microbiota is an important determinant of health and disease. Discoveries from recent microbiome studies have been postulated as actionable targets to treat malnutrition, diabetes, obesity among other conditions. The role of the gut microbiome on the development of the human musculoskeletal system is yet to be established. The aim of our study was to investigate the association between bacterial operational taxonomic units (OTUs) of the gut in relation to bone m...

FOP is an autosomal dominant disorder characterized by early onset, episodic and progressive ossification of skeletal muscle and associated connective tissue. FOP is driven by mutations in the intracellular domain of ACVR1 (ALK2), the most common of which is R206H. However, rare FOP causing mutations exist throughout the GS and the kinase domain of Acvr1. Several of these mutations result what appears to be a more severe FOP phenotype that includes significant developmental ab...

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...