Bone Abstracts

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

Aim: Osteoporosis and resulting spontaneous fractures in young patients with neurological impairments living outside institutions have not received much attention. The aim of this study was to determine the degree of demineralization in children and teens with such disabilities living in South Lebanon, an under privileged region.Subjects and methods: We reviewed 40 patients attending outpatient clinics in a referral rehabilitation center in South Lebanon...

Objective: Low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. The frequent occurrence of osteopenia raises questions regarding the direct influence of MECP2 gene mutations on bone growth and attainment of peak bone mass. It is well known that other critical factors such as the use of anticonvulsant drugs, the presence of scoliosis, the nutrition sta...

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

Low levels of 25-hydroxyvitamin D have been documented among inhabitants of the wider Middle East and North African countries. Sunlight has long been recognized as a major provider of vitamin D. In this study we aimed to determine the optimum time for sun exposure in the Central region of Riyadh, Saudi Arabia. Ampoules containing 7-dehydrocholesterol in ethanol were exposed to sunlight every hour starting from sunrise until sunset in July and December. Our results demonstrated...

Aims and background: Osteoporosis is a growing public health problem in developing countries. Awareness can lead to reduction in the incidence of the disease and consequently the fragility fractures.Osteoporosis knowledge is an important contributor to improving management and treatment of patients. The aim of this study was to measure osteoporosis knowledge among Lebanese physicians.Subjects and methods: Representative random samp...