Bone Abstracts

Objectives: Evaluate nutritional status influence upon bone mineral density (BMD) of children with CP diagnosis after reconstructive hip joint surgery.Methods: Eighteen children with CP diagnosis with III-V level Gross Motor Function Classification System took part in the research. All patients received reconstructive medical treatment in child traumatic-orthopedic unit of health center after reconstructive hip joint surgery. Anthropometric measurement c...

Introduction: Pseudovitamin D deficiency rickets type I is inherited in an autosomal recessive pattern and forms usually as a result of mutation of CYP27B1 gene localised at chromosome 12. It leads to the deficiency of L 1-hydroxylase and abnormal hydroxylation of 25-hydroxycholecalciferol (25OHD) at C 1 which constitutes the last (renal) stage of transformation of vitamin D to 1,25dihydroxycholecalciferol (1,25(OH)2D). The clinical picture include...

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

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...

Objectives: Vitamin D intake at a dose 400 IU/d is recommended for breastfed infants and is considered as sufficient. Vitamin D status is connected with bone mass and fat mass. We aimed to assess, if 400 IU/d has the same efficiency and impact on body composition in infants with different vitamin D status at birth (<20 ng/ml vs ≧20 ng/ml).Methods: 148 breastfed infants were supplemented with 400 IU/d of cholecalciferol up to 6 months of age. S...

Introduction: The body composition at term equivalent age of infants born preterm is different than that of infants born at term.Aim: The aim of the study was to compare the body composition in preterm and full-term infants at age 3 and 4 years.Patients and methods: Total body bone mineral content (TBBMC, g), density (TBBMD, g/cm2), and body composition (fat mass – FM, g; lean body mass – LBM, g) were measured ...

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