Osteogenesis Imperfecta and Implant Treatment?
I have a 67 year old patient who wants implant supported replacement of failed upper anterior bridgework, but has Ostegenesis Imperfecta Type 1.The postOsteogenesis Imperfecta and Implant Treatment? appeared first onOsseoNews Dental Implants.
Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patientsGenotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients, Published online: 18 March 2019; doi:10.1038/s41431-019-0373-xGenotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients
In this study, we identified a Thai patient having OI type III, EDS, brachydactyly, and dentinogenesis imperfecta. His dentition showed delayed eruption, early exfoliation, and severe malocclusion. For the first time, ultrastructural analysis of the tooth affected with OI/EDS showed that the tooth had enamel inversion, bone-like dentin, loss of dentinal tubules, and reduction in hardness and elasticity, suggesting severe developmental disturbance. These severe dental defects have never been reported in OI or EDS. Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G>A, p.Gly1099Glu, in e...
ConclusionTertiary dental assessment encountered barriers to uptake of recommended referral in all patients, often due to geographic factors of travel distance, yet when implemented did identify pathology in a large proportion and many resulted in dental intervention. These emphasise the relevance of specialist dental assessment in OI, particularly in the modern context of increased use of bisphosphonates. This is challenging to achieve and several models of delivery of care may need to be considered in this chronic childhood condition.
This article describes the disease presentation and management considerations from a pediatric orthopedic perspective. PMID: 30850078 [PubMed - in process]
This article describes the disease presentation and management considerations from a pediatric orthopedic perspective.
ConclusionThe sequence variant may be a disease ‐causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high‐risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies.
Secretion and assembly of collagen are fundamental to the function of the extracellular matrix. Defects in the assembly of a collagen matrix lead to pathologies including fibrosis and osteogenesis imperfecta. Owing to the size of fibril-forming procollagen molecules it is assumed that they are transported from the endoplasmic reticulum to the Golgi in specialized large COPII-dependent carriers. Here, analyzing endogenous procollagen and a new engineered GFP-tagged form, we show that transport to the Golgi occurs in the absence of large (>350 nm) carriers. Large GFP-positive structures were observed occasionally, but the...
The purpose of this study was to evaluate stress, depressive symptoms, and quality of life (QOL) among caregivers of children with osteogenesis imperfecta (OI) and to determine if associations exist with patient disease-related characteristics.
In this report, we describe the clinical case of a child with parietal fracture; the main objective of this work being to show one of the several neurological implications that children with OI can present, and their implications for the pediatric neurosurgeons as neurosurgical complications are very frequent.
CONCLUSION: This is the first study to examine the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms in children with osteogenesis imperfecta, offering a preliminary socio-demographic and clinical profile of these children. This research is an important step toward effective screening, detection, and access to care and treatment, especially for clinicians working with this group of very fragile patients. PMID: 30802423 [PubMed - as supplied by publisher]