Osteogenesis imperfecta (OI) is a disease that characterized by hereditary connective tissue dysplasia and clinically manifested as excessive bone fragility limb deformity. The overall incidence of OI 1:10,000-20,000 live births. main autosomal dominant inheritance path, recessive X-linked forms have been established, sporadic cases the disease, denovo mutations familial mosaicism described. 85...

INTRODUCTION Zoledronic acid or zo/edronate is a potent bisphosphonate that recently has been used in children with osteoporosis and osteogenesis imperfecta (01), so it could be an option in the treatment of children with this terrible disease that virtually condemns them to a life of pain and prostration. The aim of this study was to evaluate the clinical and biochemical conditions of pediatri...

The pregnancies of two women with osteogenesis imperfecta who received intravenous pamidronate before conception are reported. The mothers suffered no ill effects. One baby had transient asymptomatic hypocalcemia and one had bilateral talipes equinovarus. This report documents the pregnancy outcomes of two women with osteogenesis imperfecta (OI), types I and IV, who received intravenous pamidro...

A chemical cleavage method for detecting mismatched bases in heteroduplexes formed between patient mRNA and control cDNA probes was employed to identify a single base mutation in a heterozygous case of osteogenesis imperfecta type IV. The parents' fibroblast mRNA did not contain the mutation. The region of the mRNA mismatch was amplified by using the polymerase chain reaction, cloned and sequen...

limb lengthening by distraction osteogenesis was fi   fi key words: biomechanics, callostasis, distraction histogenesis, distraction osteogenesis,mechanical strain, osteodistraction, vector   ed the physiologic and mechanical factors governing   successful regeneration of bone formation. distraction osteogenesis is a new variation of more traditional orthognathic surgical procedure for the corr...

Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in COL1A1 and COL1A2 genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations...

background: ovarian pregnancy constitutes 0.15-3% of all ectopic pregnancies. the incidence of ectopic pregnancy is on the rise owing to evolution in assisted reproductive techniques (art). the incidence reported following in vitro fertilization (ivf) or embryo transfer (et) is 0.27% per clinical pregnancy. case: we present a case of a 13-weeks ovarian pregnancy following ivf-et and through a r...

OBJECTIVE Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014. METHODS From the Rare Diseases Information System of the VR (SIER-CV) patients from 2004 to 2014 with the codes of the International Classificatio...

Mesenchymal stem cells are stem/progenitor cells originated from the mesoderm and can different into multiple cell types of the musculoskeletal system. The vast differentiation potential and the relative ease for culture expansion have established mesenchymal stem cells as the building blocks in cell therapy and tissue engineering applications for a variety of musculoskeletal diseases, includin...