Bone Abstracts

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...

Objective: The main aim was to evaluate associations between muscular fitness indices and bone outcomes, including hip geometry estimates in young males.Methods: One hundred twenty one males (13.1±0.1 years) were included: 41 swimmers, 37 footballers, 29 cyclists and 14 non-athletes. Lean mass, areal bone mineral density (aBMD) and hip structural estimates were measured using dual-energy X-ray absorptiometry. Relationships of physical fitness tests ...

Objective: The main aim was to evaluate associations between cardiorespiratory fitness and bone outcomes, including hip geometry estimates in young males.Methods: One hundred twenty one males (13.1±0.1 years) were included: 41 swimmers, 37 footballers, 29 cyclists and 14 non-athletes. Lean mass, areal bone mineral density (aBMD) and hip structural estimates were measured using dual-energy X-ray absorptiometry. Relationships of physical fitness test ...

Objectives: Soft tissues, such as fat mass (FM) and lean mass (LM), play an important role in bone development but this is poorly understood in highly active youths. The objective of this study was to determine whether FM or LM is a stronger predictor of areal bone mineral density (aBMD) and hip geometry estimates in a group of physically active boys after adjusting for height, chronological age, moderate-to-vigorous physical activity (MVPA), FM, and LM....

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...

How exactly does inflammation early affect bone properties at rheumatoid arthritis (RA) onset? As we have shown, mechanical bone properties are negatively affected by inflammation. This could be viewed as a logic consequence of the reduction BMD that occurs in RA. However, the increased risk of fractures in RA patients is independent from BMD and this has been recognized by the WHO FRAX tool, where RA has been included as one of the risk factors. Thus, RA in itself is independ...

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...

Proton pump inhibitors (PPIs) are a class of drugs particularly used in gastric disorders. They promote a decrease on gastric acid secretion by inhibiting the H+/K+ ATPases. Osteoclasts are cells specialized in bone resorption by H+ translocation to the bone surface. Thus, PPIs might be regarded as potential tools to modulate osteoclast resorption activity, particularly in conditions that are associated with a hyperactivation of osteoclasts, li...