Bone Abstracts

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...

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...

There is a growing body of evidence indicating the important role of the neonatal steroid milieu in programming sexually dimorphic pattern in various physiological systems. We tested the hypothesis that abnormal exposure to steroid hormones within a critical developmental period elicits permanent changes on tooth eruption, enamel mineralization, and leptin and corticosterone concentrations in adulthood. Newborn Wistar rats were divided into four groups, two male groups and two...

To evaluate the regeneration of alveolar bone after treatment with bone-resorption inhibitors in old acyclic rats that had been through a long period of low estrogen. Thirty-two female Wistar rats with 20 months old intact and ovariectomized (OVX at 4 months of age), were randomized into four groups (n=8/group): i) intact; ii) OVX/O (corn oil); iii) OVX/E2 (17β-estradiol, 400 μg) and iv) OVX/RLX (Raloxifene, 1 mg/kg per day). All treatments began ...

Histomorphometry is often adopted as a methodological approach in research of femoral bone structure. However, it is common do not describe technical details of procedure especially on the steps of macroscopy, paraffin embedding and microtomy. So we propose a simplified, reliable and reproducible method of histological processing for intertrochanteric region and femoral neck of mice, to ensure the achievement of tissue sections with similar structures, cell populations and his...

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...

Background: We have previously found in the chronic SKG mouse model of arthritis that long standing (5 and 8 months) inflammation directly leads to high collagen bone turnover, disorganization of the collagen network, disturbed bone microstructure and ultimately declining in bone biomechanical properties. Our main goal was to study the effects of the inflammatory process on the microarchitecture and mechanical properties of bone in the early stages of arthritis development.</p...

Osteoporosis is a multifactorial disease that represents an increase public health problem, given the impact on functional independence and quality of life. Among the favoring factors to the imbalance in bone cell activity, the hypoestrogenism is primordial. Strength training (ST) proves to be effective because of its ability to stimulate estrogen receptor independent of ligand. In this study, we analyzed the action of ST on bone quality of rats during the aging. For this stud...