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Calcified Tissue International May 2024Osteogenesis Imperfecta is a rare, hereditary bone condition with an incidence of 1/15,000-20,000. Symptoms include bone fragility, long bone deformity, scoliosis,... (Review)
Review
Osteogenesis Imperfecta is a rare, hereditary bone condition with an incidence of 1/15,000-20,000. Symptoms include bone fragility, long bone deformity, scoliosis, hypermobility, alongside secondary features such as short stature, basilar invagination, pulmonary and cardiac complications, hearing loss, dentinogenesis imperfecta and malocclusion. Osteogenesis Imperfecta can have a large impact on the child and their family; this impact starts immediately after diagnosis. Fractures, pain, immobility, hospital admissions and the need for equipment and adaptations all influence the health-related quality of life of the individual and their family. This narrative review article aims to examine the impact the diagnosis and management of osteogenesis imperfecta has on the health-related quality of life of a child. It will touch on the effect this may have on the quality of life of their wider family and friends and identify strategies to optimise health-related quality of life in this population. Optimising health-related quality of life in children with Osteogenesis Imperfecta is often a complicated, multifaceted journey that involves the child, their extended family, school, extracurricular staff and numerous health professionals.
PubMed: 38695871
DOI: 10.1007/s00223-024-01205-4 -
BMC Oral Health Apr 2024Decellularized extracellular matrix (dECM) from several tissue sources has been proposed as a promising alternative to conventional scaffolds used in regenerative...
BACKGROUND
Decellularized extracellular matrix (dECM) from several tissue sources has been proposed as a promising alternative to conventional scaffolds used in regenerative endodontic procedures (REPs). This systematic review aimed to evaluate the histological outcomes of studies utilizing dECM-derived scaffolds for REPs and to analyse the contributing factors that might influence the nature of regenerated tissues.
METHODS
The PRISMA 2020 guidelines were used. A search of articles published until April 2024 was conducted in Google Scholar, Scopus, PubMed and Web of Science databases. Additional records were manually searched in major endodontic journals. Original articles including histological results of dECM in REPs and in-vivo studies were included while reviews, in-vitro studies and clinical trials were excluded. The quality assessment of the included studies was analysed using the ARRIVE guidelines. Risk of Bias assessment was done using the (SYRCLE) risk of bias tool.
RESULTS
Out of the 387 studies obtained, 17 studies were included for analysis. In most studies, when used as scaffolds with or without exogenous cells, dECM showed the potential to enhance angiogenesis, dentinogenesis and to regenerate pulp-like and dentin-like tissues. However, the included studies showed heterogeneity of decellularization methods, animal models, scaffold source, form and delivery, as well as high risk of bias and average quality of evidence.
DISCUSSION
Decellularized ECM-derived scaffolds could offer a potential off-the-shelf scaffold for dentin-pulp regeneration in REPs. However, due to the methodological heterogeneity and the average quality of the studies included in this review, the overall effectiveness of decellularized ECM-derived scaffolds is still unclear. More standardized preclinical research is needed as well as well-constructed clinical trials to prove the efficacy of these scaffolds for clinical translation.
OTHER
The protocol was registered in PROSPERO database #CRD42023433026. This review was funded by the Science, Technology and Innovation Funding Authority (STDF) under grant number (44426).
Topics: Tissue Scaffolds; Regenerative Endodontics; Animals; Extracellular Matrix; Decellularized Extracellular Matrix; Dental Pulp; Models, Animal; Tissue Engineering; Regeneration
PubMed: 38689279
DOI: 10.1186/s12903-024-04266-x -
Calcified Tissue International Apr 2024Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the...
Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues. Thus, OI disease-causing variants result not only in skeletal fragility, decreased bone mineral density (BMD), kyphoscoliosis, and short stature, but can also result in hearing loss, dentinogenesis imperfecta, blue gray sclera, cardiopulmonary abnormalities, and muscle weakness. The extensive genetic and clinical heterogeneity in OI has necessitated the generation of multiple mouse models, the growing awareness of non-skeletal organ and tissue involvement, and OI being more broadly recognized as a type I collagenopathy.This has driven the investigation of mutation-specific skeletal and extra-skeletal manifestations and broadened the search of potential mechanistic therapeutic strategies. The purpose of this review is to outline several of the extra-skeletal manifestations that have recently been characterized through the use of genetically and phenotypically heterogeneous mouse models of osteogenesis imperfecta, demonstrating the significant potential impact of OI disease-causing variants as a collagenopathy (affecting multiple organ systems and tissues), and its implications to overall health.
PubMed: 38641703
DOI: 10.1007/s00223-024-01213-4 -
Clinical Oral Investigations Apr 2024Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia...
OBJECTIVE
Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families.
MATERIALS AND METHODS
The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used.
RESULTS
WES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be de novo in the patient of Family 2.
CONCLUSIONS AND CLINICAL RELEVANCE
Our study extends the number of DSPP pathogenic variants and strengthens the fact that DSPP is the most common DI causative gene irrespective of patients' ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited DSPP variants taking into consideration the variable religion, culture and laws in our society.
Topics: Humans; Dentinogenesis Imperfecta; Genetic Counseling; Ethnicity; Osteochondrodysplasias; Radiography, Panoramic
PubMed: 38630328
DOI: 10.1007/s00784-024-05636-z -
Journal of Endodontics Jul 2024Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly...
INTRODUCTION
Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly developed tooth buds, delayed eruption of permanent teeth in affected quadrants, and ghost teeth. The affected teeth often become necrotic due to abnormal enamel and dentin development, making them susceptible to caries and infection. The aim of this case report is to describe the treatment of ROD through pulp revascularization.
CASE REPORT
A 13-year-old girl was referred for endodontic treatment. The mandibular left incisors and first premolar, which were affected by regional odontodysplasia, lost their vitality because of the impaired structure of the enamel. Due to the teeth's early developmental stage, a regenerative endodontic treatment was attempted. All 3 teeth were treated using the same protocol following the AAE guidelines. After 4 weeks, treatment of the premolar was completed, whereas the incisor teeth remained symptomatic and were and therefore, intracanal dressing with calcium hydroxide was repeated and left in place for 5 months. Finally, the regenerative procedure was completed, and the crowns were restored. The patient was scheduled for follow-up examinations after 6 months, and then yearly for the next 3 years. After 1 year, the periapical lesion around the central incisor and premolar had resolved, the lesion around the apex of the lateral incisor was healing, and the roots had continued to develop. After 3 years, complete healing and pulp canal obliteration were observed in the central incisor and in the premolar. However, the root of the lateral incisor tooth was split, and it was recommended to extract this tooth.
CONCLUSION
The positive outcomes of regenerative endodontics in the central incisor and premolar suggest that revascularization of the pulp may be optional for the treatment of immature necrotic teeth affected by developmental disorders, such as ROD, amelogenesis imperfecta, or dentinogenesis imperfecta.
Topics: Humans; Adolescent; Female; Regenerative Endodontics; Odontodysplasia; Incisor; Bicuspid; Root Canal Therapy; Dental Pulp Necrosis
PubMed: 38626857
DOI: 10.1016/j.joen.2024.04.006 -
Heliyon Apr 2024Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal...
BACKGROUND
Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragility fractures. Its two forms, BS1 and BS2, are caused by pathogenic variations in and , respectively.
OBJECTIVE
We aimed to improve the clinical understanding of BS by presenting a case from China and to identify the genetic variants that led to this case.
METHODS
OI was suspected in a Chinese boy with a history of recurrent long bone fractures, lumbar kyphosis, and dentinogenesis imperfecta (DI). Whole-exome sequencing (WES) was performed to identify pathogenic variations. Sanger sequencing was used to confirm the results of the WES. analysis was used to predict the pathogenicity of genetic variants.
RESULTS
WES and Sanger sequencing revealed a compound heterozygous variation in the gene (NM_021939, c.23dupG in exon 1, and c.825dupC in exon 5). Both variants resulted in a frameshift and premature stop codon. Of these two variants, c.23dupG has not been previously reported. The patient's parents were heterozygous carriers of one variant. In addition, zoledronic acid treatment improved the vertebral deformity and bone mineral density (BMD) significantly in this patient.
CONCLUSIONS
A novel compound heterozygous variation of , c.23dupG/c.825dupC, was identified in a patient with moderately severe OI. Based on these findings, the patient was diagnosed with BS1 without congenital joint contractures or OI type XI. This study expands the spectrum of genetic variants that cause BS and OI.
PubMed: 38590901
DOI: 10.1016/j.heliyon.2024.e28680 -
BioRxiv : the Preprint Server For... Mar 2024Regeneration of dentin and odontoblasts from dental pulp stem cells (DPSCs) is essential for permanent tooth maintenance. However, the identity and role of endogenous...
Regeneration of dentin and odontoblasts from dental pulp stem cells (DPSCs) is essential for permanent tooth maintenance. However, the identity and role of endogenous DPSCs in reparative dentinogenesis are elusive. Here, using pulp single-cell analysis before and after molar eruption, we revealed that endogenous DPSCs are enriched in GFP coronal papilla-like cells with Cre labeling. These GFP cells are long-term repopulating cells that contribute to the majority of pulp cells and new odontoblasts after eruption. Upon molar injury, DPSCs localize into the injury site and differentiate into new odontoblasts, forming -GFP and -GFP dentinal tubules and reparative dentin. Single-cell and FACS analysis showed that GFP DPSCs are the most primitive cells with stem cell marker expression and odontoblast differentiation. Taken together, our findings demonstrate that labels postnatal DSPCs, which are the main source of pulp cells and new odontoblasts with reparative dentinogenesis .
PubMed: 38585950
DOI: 10.1101/2024.03.21.586156 -
Journal of the American Dental... May 2024Orthodontic treatment for patients with dentinogenesis imperfecta (DGI) can be risky because of the fragility of their dental hard tissue. Although the Invisalign (Align...
BACKGROUND
Orthodontic treatment for patients with dentinogenesis imperfecta (DGI) can be risky because of the fragility of their dental hard tissue. Although the Invisalign (Align Technology) clear aligner system should be a suitable orthodontic appliance for patients with DGI, to the authors' knowledge, there has been no related research.
CASE DESCRIPTION
A 28-year-old woman with DGI sought treatment with a 1 mm open bite, edge-to-edge occlusion of the central incisors, and a bilateral Class III cusp-to-cusp molar relationship. Invisalign was applied for her treatment, and after 3 and one-half years of orthodontic therapy, a normal overjet and overbite were achieved, accompanied by retraction of the lower lip as well as a bilateral Class I molar relationship. In addition, there was no iatrogenic injury to the patient's teeth.
PRACTICAL IMPLICATIONS
The Invisalign system may be a suitable orthodontic appliance for patients with DGI because clear aligners lessen the tensile stress to the teeth, decrease the number and area of bonds to the teeth, and offer protective effects through a full wrap of plastic that covers the crowns of the teeth.
Topics: Humans; Female; Adult; Dentinogenesis Imperfecta; Orthodontic Appliances, Removable; Tooth Movement Techniques; Orthodontics, Corrective; Orthodontic Appliance Design
PubMed: 38573273
DOI: 10.1016/j.adaj.2024.01.007 -
A homozygous mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.JBMR Plus May 2024Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders that cause bone fragility, through various quantitative and qualitative defects...
Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders that cause bone fragility, through various quantitative and qualitative defects of type 1 collagen, a triple helix composed of two α1 and one α2 chains encoded by and , respectively. The main extra-skeletal manifestations of OI include blue sclerae, opalescent teeth, and hearing impairment. Moreover, multiple genes involved in osteoblast maturation and type 1 collagen biosynthesis are now known to cause recessive forms of OI. In this study a multiplex consanguineous family of two affected males with OI was recruited for genetic screening. To determine the causative, pathogenic variant(s), genomic DNA from two affected family members were analyzed using whole exome sequencing, autozygosity mapping, and then validated with Sanger sequencing. The analysis led to the mapping of a homozygous variant previously reported in SP7/OSX, a gene encoding for Osterix, a transcription factor that activates a repertoire of genes involved in osteoblast and osteocyte differentiation and function. The identified variant (c.946C > T; p.Arg316Cys) in exon 2 of results in a pathogenic amino acid change in two affected male siblings and develops OI, dentinogenesis imperfecta, and craniofacial anomaly. On the basis of the findings of the present study, :c. 946C > T is a rare homozygous variant causing OI with extra-skeletal features in inbred Arab populations.
PubMed: 38562913
DOI: 10.1093/jbmrpl/ziae026 -
The Journal of Clinical Pediatric... Mar 2024Children with dentinogenesis imperfecta require restorative or prosthodontic treatment to minimize the aesthetic and functional impact of the condition. This clinical...
Children with dentinogenesis imperfecta require restorative or prosthodontic treatment to minimize the aesthetic and functional impact of the condition. This clinical case report describes the oral rehabilitation procedure in a 12-year-old patient with dentinogenesis imperfecta type II using nanoceramic resin crowns fabricated with Computer-Aided Design/Computer-Aided Manufacturing (CAD/CAM) technology and the patient's progression over eight years. This minimal intervention approach enabled functional and aesthetic reestablishment along with tooth wear prevention. The result simplified an extensive prosthetic procedure and facilitated an affordable rehabilitation for the young patient while providing excellent long-term outcomes.
Topics: Child; Humans; Dentinogenesis Imperfecta; Crowns; Computer-Aided Design; Dental Prosthesis Design
PubMed: 38548649
DOI: 10.22514/jocpd.2024.047