scholarly journals Primary failure of eruption: Clinical and genetic findings in the mixed dentition

2018 ◽  
Vol 88 (3) ◽  
pp. 275-282 ◽  
Author(s):  
Cristina Grippaudo ◽  
Concetta Cafiero ◽  
Isabella D'Apolito ◽  
Beatrice Ricci ◽  
Sylvia A. Frazier-Bowers
Keyword(s):  
Clinical Evidence ◽  
Mutational Analysis ◽  
Mixed Dentition ◽  
Permanent Teeth ◽  
Phenotype Correlation ◽  
Posterior Teeth ◽  
Coding Regions ◽  
Primary Failure Of Eruption ◽  
Parathyroid Hormone 1 Receptor ◽  
In Silico Analyses

ABSTRACT Objective: To test the hypothesis that mutations in the parathyroid hormone 1 receptor (PTH1R) include effects in both primary and permanent teeth. Materials and Methods: DNA was extracted from saliva samples of 29 patients (8 familial and 21 sporadic) who presented with clinical evidence of infraoccluded teeth, and their unaffected relatives (N = 22). Sequencing followed by mutational analysis of the coding regions of PTH1R gene was completed for all individuals (N = 29). Results: Eight of 29 cases revealed a heterozygous pathogenic variant in the PTH1R gene; five of eight variants represented distinct mutations based on comparison with the dbSNP, HGMD, and ESP databases. One mutation (c.1765 T>C p.Trp89Arg) was found to segregate within a family (n = 3). In silico analyses for all variants revealed a putative pathogenic effect. A genotype-phenotype correlation was reported as defined by a functional mutation in PTH1R and corresponding effects on one or more posterior teeth only; unilateral or bilateral involvement, infraoccluded primary teeth. Conclusions: Novel mutations were reported in the PTH1R gene that included PFE-affected primary molars, thus providing the basis for using a genetic diagnostic tool for early diagnosis leading to proper management.

scholarly journals Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Cristina Grippaudo ◽  
Isabella D’Apolito ◽  
Concetta Cafiero ◽  
Agnese Re ◽  
Pietro Chiurazzi ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Mutational Analysis ◽  
Clinical Signs ◽  
Open Bite ◽  
Clinical Severity ◽  
Mixed Dentition ◽  
Phenotype Correlation ◽  
Posterior Teeth ◽  
Primary Failure Of Eruption ◽  
Genotype Phenotype Correlation

Abstract Background Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases. The clinical severity and expression of PFE is variable, and the genotype–phenotype correlation remains elusive. Further, the similarity between some eruption disorders that are not associated with PTH1R alterations is striking. To better understand the genotype–phenotype correlation, we examined the relationship between the eruption phenotype and PTH1R genotype in 44 patients with suspected PFE and 27 unaffected relatives. Sanger sequencing was employed to analyze carefully selected PFE patients. Potential pathogenicity of variants was evaluated against multiple genetic databases for function prediction and frequency information. Results Mutational analysis of the PTH1R coding sequence revealed 14 different variants in 38 individuals (30 patients and 8 first-degree relatives), 9 exonic and 5 intronic. Their pathogenicity has been reported and compared with the number and severity of clinical signs. In 72.7% of patients with pathogenic variants, five clinical and radiographic criteria have been found: involvement of posterior teeth, involvement of the distal teeth to the most mesial affected, supracrestal presentation, altered vertical growth of the alveolar process and posterior open-bite. In cases with mixed dentition (3), the deciduous molars of the affected quadrant were infraoccluded. Discussion The probability of an affected patient having a PTH1R variant is greater when five specific clinical characteristics are present. The likelihood of an eruption defect in the absence of specific clinical characteristics is rarely associated with a PTH1R mutation. Conclusions We report here that systematic clinical and radiographic observation using a diagnostic rubric is highly valuable in confirming PFE and offers a reliable alternative for accurate diagnosis.

Resorption of multirooted temporary teeth in children with dentofacial anomalies in accordance with the orthopantomography data

2020 ◽  
Vol 20 (3) ◽  
pp. 235-241
Author(s):  
F. S. Ayupova ◽  
S. N. Alekseenko ◽  
V. Ya. Zobenko ◽  
T. V. Gayvoronskaya
Keyword(s):  
Primary Teeth ◽  
Root Resorption ◽  
Type A ◽  
Mixed Dentition ◽  
Permanent Teeth ◽  
Primary Molars ◽  
Second Primary ◽  
X Rays ◽  
Primary Molar ◽  
Posterior Teeth

Relevance. To study the incidence of different types of resorption of multirooted primary teeth, to specify indications for deciduous molar extraction to prevent eruption abnormalities of permanent posterior teeth in mixed dentition.Materials and methods. Root resorption of 375 multirooted primary teeth (166 first primary molars and 209 second primary molars) was studied on panoramic X-rays of 60 children (30 girls and 30 boys) aged between 7 and 15. Illustrated classification by T.F. Vinogradova (1967) improved by authors was used to determine type and degree of root resorption of multi-rooted primary teeth. Received data were described with absolute values of number of cases and percentage. Chi-square was used to detect differences in sign incidence rate between groups, p<0.05 was considered statistically significant.Results. There were no statistically significant gender differences (p>0,05) in type and degree of root resorption of multirooted primary teeth. Type A resorption prevailed and constituted 53.3% of all primary molars. Disturbances in root resorption of multirooted primary teeth in mixed dentition were related to health condition of primary teeth. Transition of even resorption to unven was considered a risk factor of delayed eruption and aberrant position of permanent teeth, and indication for extraction of a primary molar in question. Conclusions. 1) Even root resorption (type A) was detected in 53.3% of primary molars in mixed dentition by orthopantomography. 2) Transition from even resorption of primary molar roots to uneven resorption was associated with eruption deviations and delayed premolar eruption. 3) Timely extraction of primary molars with uneven root resorption facilitated correct eruption of premolars and increased effectiveness of secondary prevention of malocclusion in children.

scholarly journals Immediate periodontal bone plate changes induced by rapid maxillary expansion in the early mixed dentition: CT findings

2014 ◽  
Vol 19 (3) ◽  
pp. 36-43 ◽  
Author(s):  
Daniela Gamba Garib ◽  
Maria Helena Ocké Menezes ◽  
Omar Gabriel da Silva Filho ◽  
Patricia Bittencourt Dutra dos Santos
Keyword(s):  
Plate Thickness ◽  
Spiral Ct ◽  
Distal Region ◽  
Rapid Maxillary Expansion ◽  
Mixed Dentition ◽  
Bone Plate ◽  
Permanent Teeth ◽  
Slight Reduction ◽  
Maxillary Expansion ◽  
Posterior Teeth

OBJECTIVE: This study aimed at evaluating buccal and lingual bone plate changes caused by rapid maxillary expansion (RME) in the mixed dentition by means of computed tomography (CT). METHODS: The sample comprised spiral CT exams taken from 22 mixed dentition patients from 6 to 9 years of age (mean age of 8.1 years) presenting constricted maxillary arch treated with Haas-type expanders. Patients were submitted to spiral CT scan before expansion and after the screw activation period with a 30-day interval between T1 and T2. Multiplanar reconstruction was used to measure buccal and lingual bone plate thickness and buccal bone crest level of maxillary posterior deciduous and permanent teeth. Changes induced by expansion were evaluated using paired t test (p < 0.05). RESULTS: Thickness of buccal and lingual bone plates of posterior teeth remained unchanged during the expansion period, except for deciduous second molars which showed a slight reduction in bone thickness at the distal region of its buccal aspect. Buccal bone dehiscences were not observed in the supporting teeth after expansion. CONCLUSION: RME performed in mixed dentition did not produce immediate undesirable effects on periodontal bone tissues.

Treatment of deep overbite in mixed dentition: a clinical case report

2021 ◽  
Vol 21 (2) ◽  
pp. 132-137
Author(s):  
A. S. Shishmareva ◽  
E. S. Bimbas ◽  
E. V. Menshikova
Keyword(s):  
Mixed Dentition ◽  
Dental Arch ◽  
Treatment Results ◽  
Harmonious Development ◽  
Posterior Teeth ◽  
Deep Bite ◽  
Curve Of Spee ◽  
Suggested Technique ◽  
Short Period ◽  
Distal Occlusion

Relevance. Deep overbite is one of the most frequent malocclusions in children and teenagers of different ages. Distal occlusion with a deep overbite is the most common (59.6-67.6% according to the literature) in early mixed dentition. Most Russian and international authors state in their research that the severity of malocclusion increases with age. The treatment of the pathology in children is relevant due to deterioration of the deep overbite with age, worsening of functional disorders.Materials and methods. The study analyses the treatment results of a child with a deep bite using the authors’ technique.Results. The study demonstrated the advantages of the authors’ technique. The treatment allowed achieving normal dentoalveolar heights in the posterior mandible on molar and premolar eruption, establishing the correct relationship between the upper and lower dental arches that promoted harmonious development of the child’s maxillofacial area. The treatment regulated the length and width of the upper dental arch and corrected its form. The active intrusion of the lower incisors and extrusion of the lower posterior teeth were observed during the treatment. The curve of Spee was restored, and an increased overlap reduced. Occlusal contacts of posterior teeth improved, and deep overbite decreased. The technique is easy to use and allows curing 9-12-year-old children in a short period (7-10 months).Conclusions. The suggested technique treats deep overbite as well as creates conditions for the further harmonious development of the maxillofacial area. Thus, it can be recommended for the treatment in early mixed dentition.

Dental Caries in Children and Adolescents During and After Antineoplastic Chemotherapy

2018 ◽  
Vol 42 (3) ◽  
pp. 225-230
Author(s):  
Dorota Olczak-Kowalczyk ◽  
Ewa Krasuska-Sławińska ◽  
Agnieszka Brożyna ◽  
Anna Turska-Szybka ◽  
Bożenna Dembowska-Bagińska
Keyword(s):  
Children And Adolescents ◽  
Healthy Subjects ◽  
Dental Hygiene ◽  
Mixed Dentition ◽  
Permanent Teeth ◽  
White Spot Lesions ◽  
Icdas Ii ◽  
High Incidence ◽  
Antineoplastic Treatment ◽  
Antineoplastic Chemotherapy

Objective: To assess caries incidence, intensity, and treatment in children and adolescents under/after antineoplastic treatment. Study design: Patients with permanent and mixed dentition were divided into three groups of 60 patients each (5–18 years): CH – under chemotherapy; PCH – after chemotherapy; CG – generally healthy subjects. Caries incidence, intensity (DMFT/dmft, DMFS/dmfs), and mean numbers of teeth/surfaces with white spot lesions–WSL (D1+2/d1+2) were assessed following the ICDAS-II criteria. Statistical analysis: Mann-Whitney U test, significance at p≤0.05). Results: Caries incidence was significantly higher in PCH and CH (88.33% and 90%) than in CG (66.66%). Caries intensity was higher in both mixed and permanent dentition in patients under and after chemotherapy. The DMFS/DMFT correlation was the highest in PCH. Treatment indexes for primary and permanent teeth treatment were significantly lower in PCH and CH than CG. Conclusion: Antineoplastic chemotherapy is associated with caries development and its high incidence during/after treatment. As dental hygiene was poor in patients under and after antineoplastic treatment, dental checkups need to be more frequent and thorough.

scholarly journals Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhimeng Zhang ◽  
Hehua Dai ◽  
Lei Wang ◽  
Tianchang Tao ◽  
Jing Xu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Screening ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Pathological Myopia ◽  
Nonsense Mutations ◽  
Chinese Families ◽  
Coding Regions ◽  
Genotype Phenotype Correlation ◽  
Male Patients

Abstract Background RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. Methods Genomic DNA was extracted from peripheral blood. The coding regions and intron-exon boundaries of the retinitis pigmentosa GTPase regulator (RPGR) and RP2 genes were amplified by PCR and then sequenced directly. Ophthalmic examinations were performed to identify affected individuals from two families and to characterize the phenotype of the disease. Results Mutation screening demonstrated two novel nonsense mutations (c.1541C > G; p.S514X and c.2833G > T; p.E945X) in the RPGR gene. The clinical manifestation of family 1 with mutations in exon 13 was mild. Genotype-phenotype correlation analysis suggested that patients with mutations close to the downstream region of ORF15 in family 2 manifested an early loss of cone function. Family 2 carried a nonsense mutation in ORF15 that appeared to have a semi-dominant pattern of inheritance. All male patients and two female carriers in family 2 manifested pathological myopia (PM), indicating that there may be a distinctive X-linked genotype-phenotype correlation between RP and PM. Conclusions We identified two novel mutations of the RPGR gene, which broadens the spectrum of RPGR mutations and the phenotypic spectrum of the disease in Chinese families.

Clinical Performance and Wear Resistance of Two Compomers in Posterior Occlusal Restorations of Permanent Teeth: Six-Year Follow-up

10.2341/06-71 ◽  
2007 ◽  
Vol 32 (2) ◽  
pp. 118-123 ◽  
Author(s):  
R. G. Lund ◽  
F. P. Sehn ◽  
E. Piva ◽  
D. Detoni ◽  
F. R. R. Moura ◽  
...  
Keyword(s):  
Wear Resistance ◽  
Clinical Relevance ◽  
Clinical Performance ◽  
Occlusal Surface ◽  
Permanent Teeth ◽  
Posterior Teeth

Clinical Relevance The restoration quality has decreased and the wear increased for two compomers placed in the occlusal surface of permanent posterior teeth after six years; however, the restorations were clinically acceptable at the end of the evaluation.

scholarly journals Noninvasive and Multidisciplinary Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta: A Pediatric Case Report

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Juliana Feltrin de Souza ◽  
Camila Maria Bullio Fragelli ◽  
Marco Aurélio Benini Paschoal ◽  
Edson Alves Campos ◽  
Leonardo Fernandes Cunha ◽  
...  
Keyword(s):  
Case Report ◽  
Composite Resin ◽  
Preventive Treatment ◽  
Open Bite ◽  
Amelogenesis Imperfecta ◽  
Mixed Dentition ◽  
Anterior Open Bite ◽  
Posterior Teeth ◽  
Anterior Teeth

Case Report. An 8-year-old girl with amelogenesis imperfecta (AI) reported unsatisfactory aesthetics, difficulty in mastication, and dental hypersensitivity. The intraoral examination observed mixed dentition, malocclusion in anteroposterior relationships, anterior open bite, and dental asymmetry. A hypoplastic form of AI was diagnosed in the permanent dentition. A multidisciplinary planning was performed and divided into preventive, orthopedic, and rehabilitation stages. Initially, preventive treatment was implemented, with fluoride varnish applications, in order to protect the fragile enamel and reduce the dental sensitivity. In the second stage, the patient received an interceptive orthopedic treatment to improve cross-relationship of the arches during six months. Finally, the rehabilitation treatment was executed to establish the vertical dimension. In the posterior teeth, indirect composite resin crowns were performed with minimally invasive dental preparation. Direct composite resin restorations were used to improve the appearance of anterior teeth.Follow-Up. The follow-up was carried out after 3, 6, 12, and 18 months. After 18 months of follow-up, The restoration of integrity, oral hygiene, and patient satisfaction were observed .Conclusion. Successful reduction of the dental hypersensitivity and improvement of the aesthetic and functional aspects as well as quality of life were observed.

scholarly journals A probable genetic origin for pit defects on the molars of Paranthropus robustus

2018 ◽  
Author(s):  
Ian Towle ◽  
Joel D. Irish
Keyword(s):  
Rapid Evolution ◽  
Modern Human ◽  
Amelogenesis Imperfecta ◽  
Primate Species ◽  
Permanent Teeth ◽  
Deciduous Teeth ◽  
Enamel Hypoplasia ◽  
Genetic Origin ◽  
Posterior Teeth ◽  
Anterior Teeth

AbstractWe report the frequencies of linear enamel hypoplasia (LEH) and, specifically, pitting enamel hypoplasia (PEH) defects in the teeth of Paranthropus robustus, for comparison with four other South African hominin species and three extant nonhuman primate species. Unlike LEH, the lesser known PEH is characterized by multiple circular depression defects across a tooth crown and is often difficult to interpret in terms of developmental timing and etiology. Teeth in all samples were examined macroscopically with type, position and number of defects recorded. Frequencies of teeth with LEH vary among hominin species, but the differences in PEH are considerable. That is, P. robustus has much higher rates of pitting defects, with 47% of deciduous teeth and 14% of permanent teeth affected, relative to 6.7% and 4.3%, respectively, for all other hominin teeth combined; none of the extant primate samples evidence comparable rates. The defects on P. robustus molars are unlike those in other species, with entire crowns often covered in small circular depressions. The PEH is most consistent with modern human examples of amelogenesis imperfecta. Additionally, the defects are: 1) not found on anterior teeth, 2) uniform in shape and size, and 3) similar in appearance/severity on all molars. A possible reason for this form of PEH is as a side effect of selection on another phenotype that shares the same coding gene(s), i.e., a genetic origin. Recent research on the ENAM gene provides one such possibility. Paranthropus likely underwent rapid evolution in the ENAM loci, with changes in this gene contributing to larger posterior teeth and thicker enamel. This same gene is associated with amelogenesis imperfecta; therefore, pleiotropy effects, relating to high selection on this gene during Paranthropus evolution, could have yielded this unique condition.

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