OBJECTIVE In this study, we investigated the influence of ancestry on dental development in the Generation R Study. METHODS Information on geographic ancestry was available in 3,600 children (1,810 boys and 1,790 girls, mean age 9.81 ± 0.35 years) and information about genetic ancestry was available in 2,786 children (1,387 boys and 1,399 girls, mean age 9.82 ± 0.34 years). Dental development...

dentinogenesis imperfecta (di) is a hereditary dentin defect caused by an autosomal dominant mutation in dentin sialophosphoprotein gene. defective dentin development results in discolored teeth that are prone to wear and fracture. early diagnosis and proper treatment are necessary to achieve better functional and esthetic results and minimize nutritional deficiencies and psychosocial distress....

A 77-year-old woman with osteogenesis imperfecta was admitted with symptomatic choledocholithiasis. Endoscopic retrograde cholangiopancreatography (ERCP) was carried out and mild resistance was encountered in the distal esophagus with “red out” during intubation. The duodenoscope was withdrawn and gastroscopy revealed a tear in the distal esophagus (●" Fig.1). As a perforation was suspected, a ...

In previous studies by our group, we reported that thymosin beta 4 (Tb4) is closely associated with the initiation and development of the tooth germ, and can induce the expression of runt-related transcription factor 2 (RUNX2) during the development of the tooth germ. RUNX2 regulates the expression of odontogenesis-related genes, such as amelogenin, X-linked (Amelx), ameloblastin (Ambn) and ena...

Background: Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue. In this article we reviewed epidemiology, types OI, pathophysiology, symptoms and potential therapies.Material methods: This paper was based on medical articles collected in PubMed from 2006 to 2022, websites books. The research has been done by looking through key words such as: „osteogenesis im...

Osteogenesis imperfecta is a clinically and genetically heterogeneous group of inherited connective tissue disorders in which bone fragility is the predominant feature. Cultured dermal fibroblasts from one patient with the lethal perinatal form of osteogenesis imperfecta secrete type I procollagen at a rate half that of normal cells. Short-term labeling experiments and treatment with alpha,alph...

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Tha...