Bone Abstracts

Introduction: Niemann–Pick disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. It is caused by mutations of genes which products are involved in the metabolism of sphingolipids. Their dysfunction causes sphingomyelin to accumulate in different organs which leads to progressive multisystemic disorder. Types A and B NPD are caused by mutations in sphingomyelin phosphodiesterase-1 gene with deficiency of acid sphingomyelinase (ASM). Types C and D NP...

Introduction: Obstructive sleep apnea (OSA) is a common sleep-related respiratory disorder characterized by repeated episodes of apnea and hypopnea resulting in sleep fragmentation, nocturnal hypoxia and hypercapnia, and excessive daytime sleepiness. OSA has recently become a well-recognized problem in view of its high prevalence in the general population. OSA is associated with many endocrine disorders (hypogonadotropic hypogonadism, hypercortisolism, glucose intolerance). Th...

Background: It is known that one of the features of rheumatoid arthritis (RA) is a generalized bone loss, therefore important tasks for the physician are timely evaluating of the risk of fractures and approving osteoporosis treatment in patients with RA.Objectives: Through the Programme of the Russian Association of Rheumatology for the diagnosis, prevention and treatment osteoporosis (OP) in patients with RA we evaluated the 10 year probability of major...

Objectives: Chronic non-bacterial osteomyelitis (CNO) is a heterogenic group of immune-mediated inflammatory bone diseases with unclear pathogenesis. Only a few genes associated with this condition have identified. The aim of the study was to evaluate the spectrum of mutations in genes associated with primary immunodeficiency syndromes (PIDs) and autoinflammatory diseases (AIDs) in the cohort of patients with early-onset CNO from North Caucasus (Dagestan and Chechnya) and asse...

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...