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American Journal of Orthodontics and... Sep 2021One of the most challenging problems for orthodontists is that of multiple missing maxillary teeth in a growing patient. In many patients, a good treatment option is...
One of the most challenging problems for orthodontists is that of multiple missing maxillary teeth in a growing patient. In many patients, a good treatment option is autotransplantation. This case report describes the multidisciplinary treatment of an 11-year-old girl with regional odontodysplasia affecting the maxillary right and left central incisors, and congenitally missing maxillary left lateral incisor and canine. Autotransplantation of the mandibular second premolars to the affected area was combined with orthodontic space closure, and the transplanted premolars were reshaped and restored with a resin composite to be in line with the left central and lateral incisors. After completion of the orthodontic treatment, gingivectomy was performed to obtain an even gingival contour and symmetrical gingival tissue. Space closure of the maxillary anterior teeth was achieved. Autotransplantation enabled the patient to retain her natural teeth rather than having a prosthesis or dental implant. The autotransplanted tooth allows for alveolar bone growth in synchrony with neighboring teeth and the formation of normal interdental papilla while adapting to functional stimuli and confers a high survival rate in the long term.
Topics: Anodontia; Bicuspid; Child; Female; Humans; Incisor; Maxilla; Orthodontic Space Closure
PubMed: 34334269
DOI: 10.1016/j.ajodo.2020.06.035 -
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 -
International Journal of Molecular... Oct 2019The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However,...
The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in , , , and , cause the phenotypic expression of HED. Genetic alterations in and cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.
Topics: Ectodermal Dysplasia 1, Anhidrotic; Ectodysplasins; Edar Receptor; Humans; Molecular Dynamics Simulation; Mutation, Missense; Pedigree; Phenotype; Protein Stability; Protein Structure, Tertiary; Exome Sequencing; Wnt Proteins
PubMed: 31652981
DOI: 10.3390/ijms20215282 -
Journal of Dentistry For Children... Jan 2020Segmental odontomaxillary dysplasia (SOD) is a rare craniofacial developmental disorder. Clinical features include abnormal growth and maturation of bone, premolar...
Segmental odontomaxillary dysplasia (SOD) is a rare craniofacial developmental disorder. Clinical features include abnormal growth and maturation of bone, premolar agenesis, delayed eruption of permanent molars, and unilateral posterior maxillary enlargement. Radiographic features include altered bone trabeculae, reduced maxillary sinus, pulp stones, and spontaneous resorption of primary molars. The purpose of this report is to describe the case of a seven-year-old boy who presented with dental pain, erythema of the soft tissues of the right maxillary quadrant, severely infra-occluded primary molars and bony expansion of the maxilla. Surgical exploration under general anesthesia preceded removal of the infraoccluded primary molars and histopathological examination of atypical alveolar bone. The unerupted teeth were examined, mobilized, and left in situ. Following stabilization, a removable prosthesis was constructed to aid esthetics. A comprehensive approach to treatment is indicated in such cases.
Topics: Child; Esthetics, Dental; Follow-Up Studies; Humans; Male; Maxilla; Molar; Odontodysplasia; Tooth, Unerupted
PubMed: 32151309
DOI: No ID Found -
Biomolecules Aug 2021Melanoma differentiation-associated protein 5 (MDA5) is a crucial RIG-I-like receptor RNA helicase enzyme encoded by in humans. Single nucleotide polymorphisms in the...
Melanoma differentiation-associated protein 5 (MDA5) is a crucial RIG-I-like receptor RNA helicase enzyme encoded by in humans. Single nucleotide polymorphisms in the results in fatal genetic disorders such as Aicardi-Goutières syndrome and Singleton-Merten syndrome, and in increased risk of type I diabetes in humans. In this study, we chose four different amino acid substitutions of the MDA5 protein responsible for genetic disorders: MDA5, MDA5, MDA5, and MDA5 and analyzed their structural and functional relationships using molecular dynamic simulations. Our results suggest that the mutated complexes are relatively more stable than the wild-type MDA5. The radius of gyration, interaction energies, and intra-hydrogen bond analysis indicated the stability of mutated complexes over the wild type, especially MDA5 and MDA5. The dominant motions exhibited by the wild-type and mutant complexes varied significantly. Moreover, the betweenness centrality of the wild-type and mutant complexes showed shared residues for intra-signal propagation. The observed results indicate that the mutations lead to a gain of function, as reported in previous studies, due to increased interaction energies and stability between RNA and MDA5 in mutated complexes. These findings are expected to deepen our understanding of MDA5 variants and may assist in the development of relevant therapeutics against the disorders.
Topics: Aortic Diseases; Autoimmune Diseases of the Nervous System; Computational Biology; Dental Enamel Hypoplasia; Humans; Hydrogen Bonding; Interferon-Induced Helicase, IFIH1; Metacarpus; Molecular Conformation; Molecular Dynamics Simulation; Muscular Diseases; Mutant Proteins; Mutation; Mutation, Missense; Nervous System Malformations; Odontodysplasia; Osteoporosis; Phenotype; Principal Component Analysis; RNA; Thermodynamics; Vascular Calcification
PubMed: 34439917
DOI: 10.3390/biom11081251 -
European Journal of Paediatric Dentistry Sep 2020Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed...
BACKGROUND
Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed mainly based on dental (over-retention of primary teeth, dental agenesis and diastemas) and bone findings (bone sclerosis, irregular trabeculation of immature bone and reduced maxillary sinus). This paper provides a case report.
CASE REPORT
A 5-year-old child with skin manifestations including hypertrichosis, facial erythema and pigmented nevus was diagnosed with type II segmental odontomaxillary dysplasia based on clinical, radiographic and histopathological analysis.
CONCLUSION
The skin findings can help with the suspicion of segmental odontomaxillary dysplasia, although the definitive diagnosis is typically established by a paediatric dentist based on clinical and radiological findings.
Topics: Child, Preschool; Diastema; Humans; Maxilla; Odontodysplasia; Skin Diseases; Tooth, Deciduous
PubMed: 32893658
DOI: 10.23804/ejpd.2020.21.03.14 -
Journal of Veterinary Dentistry Jun 2021As part of an annual wellness evaluation, we performed oral and dental examination under general anesthesia in 7 zoo Bolivian squirrel monkeys aged 10 and 15 years, and...
As part of an annual wellness evaluation, we performed oral and dental examination under general anesthesia in 7 zoo Bolivian squirrel monkeys aged 10 and 15 years, and 8 zoo black-tufted marmosets aged between 1 and 7 years. No oral discomfort was observed in any animal prior to the procedure. Apart from dilacerated roots of second mandibular incisor teeth in Bolivian squirrel monkeys and one case of presumably odontodysplasia in a black-tufted marmoset, no major variations in number and shape of the present teeth and roots were revealed. All 15 animals had gingivitis, but periodontitis was only diagnosed in 3 black-tufted marmosets. Most commonly diagnosed dental pathology in Bolivian squirrel monkeys was attrition/abrasion, affecting 11.9% of all teeth, followed by caries, which was only diagnosed in older animals. Altogether 8 fractured teeth were diagnosed in Bolivian squirrel monkeys only, with root fracture being the most common type, followed by complicated crown fracture and complicated crown-root fracture. Radiographic signs of endodontic disease were found in 10 teeth in Bolivian squirrel monkeys and in one nonvital tooth with intact crown in a black-tufted marmoset. We associated high occurrence of caries in the older Bolivian squirrel monkeys with their diet and saliva characteristics of these animals. Lack of any periodontitis in Bolivian squirrel monkeys may partially be attributed to limitations of radiography technique, although squirrel monkeys appear to be far less susceptible to naturally occurring periodontitis than marmosets.
Topics: Animals; Callithrix; Saimiri
PubMed: 34821512
DOI: 10.1177/08987564211041781 -
ELife Jul 2018The innate immune sensor retinoic acid-inducible gene I (RIG-I) detects cytosolic viral RNA and requires a conformational change caused by both ATP and RNA binding to...
The innate immune sensor retinoic acid-inducible gene I (RIG-I) detects cytosolic viral RNA and requires a conformational change caused by both ATP and RNA binding to induce an active signaling state and to trigger an immune response. Previously, we showed that ATP hydrolysis removes RIG-I from lower-affinity self-RNAs (
Lässig et al., 2015 ), revealing how ATP turnover helps RIG-I distinguish viral from self-RNA and explaining why a mutation in a motif that slows down ATP hydrolysis causes the autoimmune disease Singleton-Merten syndrome (SMS). Here we show that a different, mechanistically unexplained SMS variant, C268F, which is localized in the ATP-binding P-loop, can signal independently of ATP but is still dependent on RNA. The structure of RIG-I C268F in complex with double-stranded RNA reveals that C268F helps induce a structural conformation in RIG-I that is similar to that induced by ATP. Our results uncover an unexpected mechanism to explain how a mutation in a P-loop ATPase can induce a gain-of-function ATP state in the absence of ATP.Topics: AAA Proteins; Adenosine Triphosphatases; Adenosine Triphosphate; Aortic Diseases; Cytosol; DEAD Box Protein 58; Dental Enamel Hypoplasia; Humans; Hydrolysis; Immunity, Innate; Metacarpus; Muscular Diseases; Mutation; Odontodysplasia; Osteoporosis; Protein Binding; Protein Conformation; RNA, Double-Stranded; RNA, Viral; Receptors, Immunologic; Vascular Calcification
PubMed: 30047865
DOI: 10.7554/eLife.38958 -
European Oral Research May 2018The aim of this article was to review the literature and present a case of regional odontodysplasia (ROD) with special emphasis on clinical and radiographic features. A...
The aim of this article was to review the literature and present a case of regional odontodysplasia (ROD) with special emphasis on clinical and radiographic features. A 6-year-old girl was referred to our department with the chief complaint of missing her permanent maxillary left central incisor, lateral incisor, and both of her canines. The gingiva of the involved region was enlarged, fibrous, and tense. Radiographic examination showed abnormal tooth formation and shortened roots. After 3 years of follow up with temporary prosthetic rehabilitation, periodontal surgery was performed. Following forced eruption and levelling, abnormal tooth eruption and root development were observed. ProRoot MTA (Dentsply-Maillefer, Ballaigues, Switzerland) was used for root canal treatment. Intracanal fiber posts selected and access cavities were restored with composite resin. Prosthetic rehabilitation was completed with zirconia ceramic crowns. The time of diagnosis, characteristics of the present/existing symptoms, and functional and esthetic needs of the patient should be considered to determine the optimal treatment modality for ROD.
PubMed: 30775712
DOI: 10.26650/eor.2018.495 -
Arthritis & Rheumatology (Hoboken, N.J.) Oct 2017To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon...
OBJECTIVE
To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy.
METHODS
We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)-stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA (dsRNA) sensor melanoma differentiation-associated protein 5 (MDA-5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells.
RESULTS
We recorded an up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and identified a heterozygous gain-of-function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA-5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA-5.
CONCLUSION
These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA-5, and emphasize the value of testing for up-regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy.
Topics: Adolescent; Adult; Aortic Diseases; Basal Ganglia Diseases; Calcinosis; Child; Dental Enamel Hypoplasia; Glaucoma; HEK293 Cells; Heart Valve Diseases; Heterozygote; Humans; Interferon-Induced Helicase, IFIH1; Metacarpus; Middle Aged; Muscular Diseases; Musculoskeletal Diseases; Mutation; Odontodysplasia; Osteoporosis; Psoriasis; Syndrome; Vascular Calcification
PubMed: 28605144
DOI: 10.1002/art.40179