Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular distrophy with chronic progressive weakness hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or recessive (LGMD2). LGMD 2A known as calpainopathy in which there was defect gene encoding the protein named calpain. There are three phenotypes according to distribution muscle age at onse...

The effect of hexafluorenium 0.3 mg/kg on the neuromuscular block of suxamethonium 0.1 mg/kg in a child with homozygote atypical plasma cholinesterase activity and in one of his normal brothers has been compared. In the normal child, hexafluorenium produced a marked potentiation of suxamethonium block, while partially antagonizing the block in the atypical homozygote child. In both situations, ...

Abstract Background Polymorphism A1298C of the methylenetetrahydrofolate-reductase (MTHFR) gene has been implicated in spontaneous abortion. In this study, we determined the allele and genotype frequencies of this polymorphism in recurrent spontaneous abortion (RSA) and implantation failure after in vitro fertilization (IVF). Materials and Methods We performed a case–control study on 60 wom...

Although several reports suggest that Alzheimer's disease (AD) is associated with shortened telomere length, the clinical relevance of this has not yet been fully elucidated. This study was conducted to clarify the correlation of telomere length with clinical characteristics and ApoE phenotypes in 74 AD patients. Telomere length was determined from genomic DNA extracted from whole blood by quan...

Pachydermoperiostosis is a rare disease characterized by clubbing, periostosis, and soft tissue swelling, caused mutations in any of the genes involved prostaglandin metabolism (SCLO2A1 HPDG). Disease may also cause inflammatory arthritis included differential diagnosis juvenile chronic arthritis. A 17-year-old boy presented to our pediatric rheumatology outpatient clinic with complaints pain s...