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Nature Reviews. Disease Primers Aug 2017Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends... (Review)
Review
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation.
Topics: Bone and Bones; Child, Preschool; Collagen; Collagen Type I; Fractures, Bone; Genetic Predisposition to Disease; Genetic Testing; Humans; Infant; Infant, Newborn; Mutation; Osteogenesis; Osteogenesis Imperfecta; Protein Processing, Post-Translational
PubMed: 28820180
DOI: 10.1038/nrdp.2017.52 -
Monographs in Oral Science 2020Vitamins are essential organic compounds that catalyze metabolic reactions. They also function as electron donors, antioxidants or transcription effectors. They can be... (Review)
Review
Vitamins are essential organic compounds that catalyze metabolic reactions. They also function as electron donors, antioxidants or transcription effectors. They can be extracted from food and supplements, or in some cases, synthesized by our body or gut microbiome. Severe vitamin deficiencies result in systemic complications, including the development of scurvy, rickets, pellagra, and beriberi. Some moderate and severe deficiencies also result in oral conditions. A lower intake of vitamin A has been associated with decreased oral epithelial development, impaired tooth formation, enamel hypoplasia and periodontitis. Vitamin D deficiency during tooth development may result in non-syndromic amelogenesis and dentinogenesis imperfecta, enamel and dentin hypoplasia, and dysplasia. Clinical studies have demonstrated an association between vitamin D's endocrine effects and periodontitis. On the other hand, no significant association has been found between cariogenic activity and vitamin D deficiency. Vitamin C deficiency results in changes in the gingivae and bone, as well as xerostomia; while vitamin B deficiencies are associated with recurrent aphthous stomatitis, enamel hypomineralization, cheilosis, cheilitis, halitosis, gingivitis, glossitis, atrophy of the lingual papillae, stomatitis, rashes around the nose, dysphagia, and pallor. The effects of vitamins E and K on oral health are not as clear as those of other vitamins. However, vitamin K has a systemic effect (increasing the risk of haemorrhage), which may affect individuals undergoing oral surgery or suffering an oral injury. Health care professionals need to be aware of the effects of vitamins on oral health to provide the best available care for their patients.
Topics: Avitaminosis; Humans; Oral Health; Vitamin A; Vitamin K; Vitamins
PubMed: 31940621
DOI: 10.1159/000455372 -
Folia Morphologica 2018This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6- to 40-year-old patients by using panoramic radiographs.
BACKGROUND
This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6- to 40-year-old patients by using panoramic radiographs.
MATERIALS AND METHODS
This cross-sectional study was conducted by analysing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental ano-malies were divided into 5 types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dys-plasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism).
RESULTS
The prevalence of dental anomalies diagnosed by panoramic radiographs was 39.2% (46% in men and 54% in women). Anomalies of position (60.8%) and shape (27.8%) were the most common types of abnormalities and anomalies of size (8.2%), structure (0.2%) and number (17%) were the least in both genders. Anomalies of impaction (45.5%), dilacerations (16.3%), hypodontia (13.8%) and taurodontism (11.2%) were the most common subtypes of dental anomalies. Taurodontism was more common in the age groups of 13-19 years. The age range of the most frequent of all other anomalies was 20-29.
CONCLUSIONS
Anomalies of tooth position were the most common type of dental anomalies and structure anomalies were the least common in this Turkish po-pulation. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental ano-malies. Digital panoramic radiography is a very useful method for the detection of dental anomalies. (Folia Morphol 2018; 77, 2: 323-328).
Topics: Adolescent; Adult; Anodontia; Child; Cross-Sectional Studies; Dental Pulp Cavity; Female; Humans; Male; Prevalence; Radiography, Panoramic; Tooth Abnormalities; Tooth, Impacted
PubMed: 28933802
DOI: 10.5603/FM.a2017.0087 -
European Journal of Human Genetics :... Jul 2019Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase... (Clinical Trial)
Clinical Trial
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Three hundred and nine subjects had a type I collagen affecting function mutations (230 in α1(I) and 79 in α2(I)); no disease-causing changes were noticed in 55 patients. Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for α1- and α2-serine substitutions has been pointed out and heart defects, never considered before, resulted associated to quantitative mutations (P = 0.043). Moreover, some different findings emerged if compared with previous literature; especially, focusing the attention on the lethal form, no association with specific collagen regions was found and most of variants localized in the previously reported "lethal clusters" were causative of OI types I-IV. Some discrepancies have been highlighted also considering the "50-55 nucleotides rule," as well as the relationship between specific collagen I mutated region and the presence of dentinogenesis imperfecta and/or blue sclera. Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pieces for completing the puzzle, also thanks to the inclusion of clinical signs never considered before and to the large number of OI Italian patients.
Topics: Adult; Amino Acid Substitution; Child, Preschool; Collagen Type I; Collagen Type I, alpha 1 Chain; Female; Genotype; Humans; Infant; Italy; Male; Mutation, Missense; Osteogenesis Imperfecta; Phenotype; Young Adult
PubMed: 30886339
DOI: 10.1038/s41431-019-0373-x -
L' Orthodontie Francaise Nov 2023The precise diagnosis of dental structural anomalies is an essential step preceding our restorative and orthodontic therapies. Indeed, first of all, it is necessary to...
INTRODUCTION
The precise diagnosis of dental structural anomalies is an essential step preceding our restorative and orthodontic therapies. Indeed, first of all, it is necessary to identify the type of structural anomaly and to determine if it is an isolated or a syndromic form: the dental anomaly could be included in a more complex clinical picture combining other clinical signs. Moreover, the establishment of the diagnosis will allow the practitioner to adapt his clinical protocol according to the observed dental structure anomaly. The choice of the bonding material, the type of preparation (no prep, prep less, complete eviction), and the application of a deproteinization protocol with sodium hypochlorite depend to the structural defect.
MATERIAL AND METHOD
The diagnosis of dental structural anomalies is based on several key points described in this article in order to facilitate the practitioner's diagnostic approach.
CONCLUSION
The diagnosis of amelogenesis or dentinogenesis imperfecta should justify the search for other signs to determine whether the anomaly of tooth structure is isolated or syndromic.
Topics: Humans; Amelogenesis; Dental Materials; Sodium Hypochlorite
PubMed: 37930342
DOI: 10.1684/orthodfr.2023.134 -
Oral Diseases Sep 2023This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the... (Review)
Review
OBJECTIVE
This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.
SUBJECTS AND METHODS
References on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.
RESULTS
Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.
CONCLUSION
Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.
Topics: Humans; Dentinogenesis Imperfecta; Odontodysplasia; Osteogenesis Imperfecta; Dentin; Vitamin D
PubMed: 37094075
DOI: 10.1111/odi.14589 -
Journal of Veterinary Dentistry Dec 2022This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of... (Review)
Review
This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. The dentition was noted to have generalized coronal discoloration ranging from grey-blue to golden brown. Clinical pulp exposure, coronal wear and fractures were observed as was radiographic evidence of endodontic disease, thin dentin walls or dystrophic obliteration of the pulp canal. The enamel was severely affected by attrition and abrasion despite histologically normal areas; loss was most likely due to poor adherence or support by the underlying abnormal dentin. Histologically, permanent and deciduous teeth examined showed thin, amorphous dentin without organized dentin tubules and odontoblasts had dysplastic cell morphology. Primary dentin disorders, including dentinogenesis imperfecta and dentin dysplasia, have been extensively studied and genetically characterized in humans but infrequently reported in dogs. Treatment in human patients is aimed at early recognition and multi-disciplinary intervention to restore and maintain normal occlusion, aesthetics, mastication and speech. Treatment in both humans and canine patients is discussed as is the documented genetic heritability of primary dentin disorders in humans.
Topics: Humans; Dogs; Animals; Dentinogenesis Imperfecta; Esthetics, Dental; Odontoblasts; Osteogenesis Imperfecta; Dentin; Dog Diseases
PubMed: 36113440
DOI: 10.1177/08987564221123419