Diagnosis of Dental Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 25957

Special Issue Editor

Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China
Interests: tooth development; tooth agenesis; tooth regeneration
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Oral genetic disorders and rare diseases account for 15% of rare diseases worldwide and include isolated or syndromic tooth agenesis, oral and maxillofacial abnormalities, changes in the shape and/or structure of teeth, abnormal oral mucosa, or are even present in syndromic forms with the involvement of other organs or tissues (e.g., epidermolysisbullosa, ectodermal dysplasia, Axenfeld–Rieger syndrome). These situations might consequently lead to masticatory, speech, esthetic, and psychological problems. The development of a diagnosis and treatment for these rare diseases have been relatively slow, with patients often experiencing long and complicated medical visits, or even delays or misdiagnosis, thus placing a heavy burden on the affected individuals and associated societies. 

Therefore, this Special Issue is dedicated to dental diseases, especially rare oral diseases, in all its segments. We invite contributors to publish new research in the area of the diagnosis and treatment of oral diseases by means of genetics, medical imageology, pathology, molecular biology, etc. Original research, reviews, and short communications are welcome for submission.

Dr. Dong Han 
Guest Editor

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Keywords

  • dental diseases
  • oral rare diseases
  • genetic disorders
  • oral developmental defects

Published Papers (13 papers)

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11 pages, 2596 KiB  
Article
Application of Bispectral Index System (BIS) Monitor to Ambulatory Pediatric Dental Patients under Intravenous Deep Sedation
by Shih-Chia Chen, Chun-Yu Chen, Shih-Jyun Shen, Yung-Fong Tsai, Yu-Chen Ko, Li-Chuan Chuang, Jr-Rung Lin and Hsin-I Tsai
Diagnostics 2023, 13(10), 1789; https://doi.org/10.3390/diagnostics13101789 - 18 May 2023
Viewed by 1629
Abstract
Purpose Intravenous sedation has been well accepted to allow dental restoration in uncooperative children while avoiding aspiration and laryngospasm; however, intravenous anesthetics such as propofol may lead to undesired effects such as respiratory depression and delayed recovery. The use of the bispectral index [...] Read more.
Purpose Intravenous sedation has been well accepted to allow dental restoration in uncooperative children while avoiding aspiration and laryngospasm; however, intravenous anesthetics such as propofol may lead to undesired effects such as respiratory depression and delayed recovery. The use of the bispectral index system (BIS), a monitoring system reflective of the hypnotic state, is con-troversial in the reduction in the risk of respiratory adverse events (RAEs), recovery time, the in-travenous drug dosage, and post-procedural events. The aim of the study is to evaluate whether BIS is advantageous in pediatric dental procedures. Methods A total of 206 cases, aged 2–8 years, receiving dental procedures under deep sedation with propofol using target-controlled infusion (TCI) technique were enrolled in the study. BIS level was not monitored in 93 children whereas it was for 113 children, among which BIS values were maintained between 50–65. Physiological variables and adverse events were recorded. Statistical analysis was conducted using Chi-square, Mann Whitney U, Independent Samples t and Wilcoxon signed tests, with a p value of <0.05 considered to be statistically significant. Results Although no statistical significance in the post-discharge events and total amount of propofol used was observed, a clear significance was identified in periprocedural adverse events (hypoxia, apnea, and recurrent cough, all p value < 0.05) and discharge time (63.4 ± 23.2 vs. 74.5 ± 24.0 min, p value < 0.001) between these two groups. Conclusions The application of BIS in combination with TCI may be beneficial for young children undergoing deep sedation for dental procedures. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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14 pages, 4433 KiB  
Article
Identification and Experimental Validation of LINC00582 Associated with B Cell Immune and Development of Pulpitis: Bioinformatics and In Vitro Analysis
by Wenting Gong, Lilin Hong and Yi Qian
Diagnostics 2023, 13(10), 1678; https://doi.org/10.3390/diagnostics13101678 - 9 May 2023
Cited by 1 | Viewed by 1224
Abstract
Background: Pulpitis is a common oral disease. Increasing evidence has demonstrated that long non-coding RNAs (lncRNAs) can regulate the immune response in pulpitis. This study focused on finding the key immune-related lncRNAs that regulate the development of pulpitis. Methods: Differentially expressed lncRNAs were [...] Read more.
Background: Pulpitis is a common oral disease. Increasing evidence has demonstrated that long non-coding RNAs (lncRNAs) can regulate the immune response in pulpitis. This study focused on finding the key immune-related lncRNAs that regulate the development of pulpitis. Methods: Differentially expressed lncRNAs were analyzed. Enrichment analysis was performed to explore the function of differentially expressed genes. Immune cell infiltration was evaluated with Immune Cell Abundance Identifier. Cell Counting Kit-8 (CCK-8) and lactate dehydrogenase release assays were conducted to measure the viability of human dental pulp cells (HDPCs) and BALL-1 cells. Transwell assay was processed to prove migration and invasion of BALL-1 cells. Results: Our results revealed that 17 lncRNAs were significantly upregulated. Pulpitis-related genes were mainly enriched in inflammatory relative signal pathways. The abundance of various immune cells was significantly abnormal in pulpitis tissues, among which the expression of eight lncRNAs was significantly correlated with the expression of B cell marker protein CD79B. As the most relevant lncRNA for B cells, LINC00582 could regulate the proliferation, migration, invasion, and CD79B expression of BALL-1 cells. Conclusions: Our study identified eight B cell immune-related lncRNAs. Meanwhile, LINC00582 has a positive effect on B cell immunity in the development of pulpitis. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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11 pages, 570 KiB  
Article
Salivary Protein and Electrolyte Profiles during Primary Teeth Eruption: A Cross-Sectional Study
by Mina Ahmadian, Sara Maleki Kambakhsh, Nahid Einollahi, Saber Babazadeh, Maryam Tofangchiha, Giuseppe D’Amato and Romeo Patini
Diagnostics 2023, 13(7), 1335; https://doi.org/10.3390/diagnostics13071335 - 3 Apr 2023
Viewed by 1346
Abstract
This study aimed to assess the qualitative changes in the saliva during the process of primary teeth eruption. This cross-sectional study was conducted on 147 children from 2 to 48 months, of which 49 were in group A (no erupted primary teeth), 53 [...] Read more.
This study aimed to assess the qualitative changes in the saliva during the process of primary teeth eruption. This cross-sectional study was conducted on 147 children from 2 to 48 months, of which 49 were in group A (no erupted primary teeth), 53 were in group B (at least one active erupting primary tooth), and 45 were in group C (eruption of all 20 primary teeth was completed). Salivary proteins were evaluated by sodium dodecyl sulfate electrophoresis with polyacrylamide gel, while the concentrations of salivary sodium, potassium, chloride, and calcium ions were evaluated by ion selective electrodes. The data were analyzed using ANOVA and Bonferroni tests (alpha = 0.05). The concentration of proteins with molecular weights of 20–30 KDa was significantly higher in group A, and it gradually decreased with age. The concentration of proteins with molecular weights of 50–60 KDa in group B was significantly lower than those of groups A and C. The calcium ion concentration in group A was significantly higher than that of the other groups. The concentration of potassium ions was minimal in group C. The proteins and electrolyte profiles of the subjects’ saliva changed in the process of primary tooth eruption. The highest concentrations of proteins such as statherin, histatin, P-B peptide, and cystatin and the lowest concentrations of proteins such as amylase were present in group B. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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10 pages, 1729 KiB  
Article
Prevalence of Second Root and Root Canal in Mandibular and Maxillary Premolars Based on Two Classification Systems in Sub-Population of Northern Region (Saudi Arabia) Assessed Using Cone Beam Computed Tomography (CBCT): A Retrospective Study
by Sultan Meteb Alshammari, Kiran Kumar Ganji, Amjad Abdulrahman Albulayhid, Akram Mojidea Alshammari, Khalid Hamoud Raja Alhassan and Munahi Abdullah Rushdallah Alsirhani
Diagnostics 2023, 13(3), 498; https://doi.org/10.3390/diagnostics13030498 - 29 Jan 2023
Cited by 2 | Viewed by 2409
Abstract
The objective of this paper is to assess the prevalence of a second canal in maxillary and mandibular premolars based on two classification systems of root canal morphology using Cone beam computed tomography (CBCT) images. A total of 286 CBCT scans from the [...] Read more.
The objective of this paper is to assess the prevalence of a second canal in maxillary and mandibular premolars based on two classification systems of root canal morphology using Cone beam computed tomography (CBCT) images. A total of 286 CBCT scans from the archive of the Radiology department of a hospital were assessed for the presence of a second canal in maxillary and mandibular premolars. The canal configuration and its assessment was undertaken using Vertucci and Ahmed’s classification. A Chi-square test was used to test the significance of the difference between gender and age. A total of 286 premolars were examined (217 mandibular premolars and 69 maxillary premolars); of these, 173 teeth (60.5%) were from males and 113 were from females (39.5%). Some 62% of maxillary left first premolars had two roots, followed by maxillary right first premolars (47%), and then maxillary left second premolars (30%) and maxillary right ones (27%), respectively. Type IV Vertucci were seen in maxillary premolars, while type I were ordinarily seen in the included mandibular premolars. Surprisingly, Vertucci type III was only found in mandibular left first premolars at a frequency of 2%. One orifice with two separate canals and two orifices of two distinct canals with two portals of exit were predominantly noticed with maxillary first premolars (2 FP B1 P1) in 73% and 81%, respectively, followed by (1 FP 2) 19%. The prevalence of a second canal in maxillary and mandibular premolars was low in the investigated premolars in comparison to the premolars that had just one root and canal, as assessed based on Vertucci and Ahmed’s root canal system classification. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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13 pages, 2391 KiB  
Article
Frequency and Demographic Profile of Odontogenic Cysts in Riyadh, Saudi Arabia: Retrospective Multicenter Study
by Asma Almazyad, Marzouq Almutairi, Nasser Almadan, Mohammed Alamro, Fahad Maki, Turki S. AlQuwayz and Assem S. Alrumeh
Diagnostics 2023, 13(3), 355; https://doi.org/10.3390/diagnostics13030355 - 18 Jan 2023
Cited by 6 | Viewed by 1985
Abstract
Odontogenic cysts (OCs) are etiologically diverse conditions with a shared origin in the jaws. Unfortunately, there is a scarcity of published data regarding OC frequency, treatment, and follow-up information in Saudi Arabia, especially from tertiary centers. Objectives: The study aims to assess the [...] Read more.
Odontogenic cysts (OCs) are etiologically diverse conditions with a shared origin in the jaws. Unfortunately, there is a scarcity of published data regarding OC frequency, treatment, and follow-up information in Saudi Arabia, especially from tertiary centers. Objectives: The study aims to assess the relative frequency, clinicopathological features, treatment, and follow-up of OCs in three tertiary medical centers. Methods and Material: OCs were identified from King Abdulaziz Medical City, King Fahad Medical City, and Prince Sultan Military Medical City from January 2010 to December 2021. Results: Three hundred and seventy-two cases of OCs were identified from the archive of three medical centers in Riyadh; one hundred and forty-nine (40%) cases were retrieved from Prince Sultan Military Medical City. The mean age of all OCs was 32 years (range 2–90), with 225 (60.4%) cases occurring in males. There was an almost equal distribution of OCs between the maxilla (47.0%) and the mandible (53.0%). The apical radicular cyst (ARC) accounted for half of the cases, followed by dentigerous cyst (DC) (29.3%) and odontogenic keratocyst (OKC) (14.2%). Enucleation was the most common treatment modality (52.8%), followed by excision (35.0%). Thirteen cases showed recurrence: one ARC, four DCs, and eight OKCs. Conclusion: This is the first large multicenter study of OCs in Riyadh, Saudi Arabia. All three centers showed that ARC was the most common, followed by DC and OKC. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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14 pages, 1359 KiB  
Article
Wear Management of Colored Foils for the Assessment of Sleep Bruxism Patterns—A Prospective, Randomized Crossover Study
by Ferida Besirevic-Bulic, Martina Schmid-Schwap, Michael Kundi, Benedikt Sagl and Eva Piehslinger
Diagnostics 2023, 13(2), 172; https://doi.org/10.3390/diagnostics13020172 - 4 Jan 2023
Viewed by 1611
Abstract
The assessment of bruxism relies on clinical examinations, questionnaires, and polysomnography. The additional use of colored foils (BruxChecker®) could enable a more precise evaluation of bruxing patterns. To assess differences between use of the foils during stress periods or just on [...] Read more.
The assessment of bruxism relies on clinical examinations, questionnaires, and polysomnography. The additional use of colored foils (BruxChecker®) could enable a more precise evaluation of bruxing patterns. To assess differences between use of the foils during stress periods or just on consecutive nights and to determine a reasonable duration of using the foils, 28 patients were classified according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) and were randomly assigned to wearing the 12 foils for six consecutive nights (alternately in the upper and lower jaw; “consecutive”) or six nights within one month following days of high stress (“stress”) in a crossover design. The sizes of the attrition areas were measured with ImageJ. Stress was evaluated using the Perceived Stress Scale. The Stress Coping Questionnaire (SVF-120) was used for assessing habitual stress coping strategies. Areas of attrition increased significantly from day 1/2 to 5/6, both for the upper and lower jaw. Molars in the mandible had significantly larger attrition areas than in the maxilla. No significant differences were detected between “consecutive” and “stress” phases. The foils were suitable for differentiating teeth more or less affected by bruxism and were able to show that areas of attrition increased with days, indicating that some adaptation takes place and several days of wearing the foils are required to show the full picture. However, no differences between low/moderate- and high-stress phases were detected. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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15 pages, 5621 KiB  
Article
Identification of Six microRNAs as Potential Biomarkers for Pemphigus Vulgaris: From Diagnosis to Pathogenesis
by Wenxiu He, Yixiao Xing, Chunlei Li, Peiru Zhou, Xiaosheng Hu, Hong Hua and Pan Wei
Diagnostics 2022, 12(12), 3058; https://doi.org/10.3390/diagnostics12123058 - 6 Dec 2022
Cited by 3 | Viewed by 1532
Abstract
Background: Pemphigus vulgaris (PV) is a potentially fatal autoimmune bullous disease. The role of microRNA (miRNA, miR) in the diagnosis and pathogenesis of PV remains unknown. This study aims to provide potential miRNA biomarkers for PV diagnosis and therapy options. Methods: Serum samples [...] Read more.
Background: Pemphigus vulgaris (PV) is a potentially fatal autoimmune bullous disease. The role of microRNA (miRNA, miR) in the diagnosis and pathogenesis of PV remains unknown. This study aims to provide potential miRNA biomarkers for PV diagnosis and therapy options. Methods: Serum samples were obtained from 22 PV patients, 15 mucous membrane pemphigoid (MMP) patients, and 10 normal controls (NC). Total RNA was extracted from the serum samples, and 12 selected miRNAs were detected by quantitative real-time polymerase chain reaction (qRT-PCR). Bioinformatic analyses including target gene prediction and enrichment analysis were performed. Results: Twelve miRNAs were increased in the serum of the PV group compared with the NC group, in which six miRNAs had good efficacy to diagnose PV from MMP with the area under the receiver operator characteristic curves of 0.970 to 0.988. A series test for the combination of miR-584-5p and miR-155-5p reached the sensitivity and specificity of 95.5% and 100%. Bioinformatic analysis revealed target gene enrichment in the cell adhesion pathways, immune-relating pathways, and P38 mitogen-activated protein kinases signaling pathway. Conclusion: The study provides new insights and targets of miRNAs for the precise diagnosis and the exploration of pathogenesis for PV, which may serve as a reference for further research into autoimmune bullous diseases. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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10 pages, 2200 KiB  
Article
A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome
by Bichen Lin, Yang Liu, Lanxin Su, Hangbo Liu, Hailan Feng, Miao Yu and Haochen Liu
Diagnostics 2022, 12(12), 2936; https://doi.org/10.3390/diagnostics12122936 - 24 Nov 2022
Cited by 2 | Viewed by 1194
Abstract
The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variant. The harmfulness of the variant was predicted by [...] Read more.
The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variant. The harmfulness of the variant was predicted by bioinformatics. We identified a novel heterozygous missense variant c.1198G>A (p.Asp400Asn) in the CDH1 gene in the proband and his mother with BCD syndrome. The sequencing results of three healthy individuals in this family are wild type. This result is consistent with familial co-segregation. According to ReVe, REVEL, CADD, gnomAD, dbSNP, and the classification of pathogenic variants with the standards of the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG), c.1198G>A (p.Asp400Asn) is predicted to be a likely pathogenic. We observed that variant c.1198G>A (p.Asp400Asn) was located in the extracellular cadherin-type repeats in CDH1. Amino acid sequence alignment of the CDH1 protein among multiple species showed that Asp400 was highly evolutionarily conserved. The conformational analysis showed that this variant might cause structural damage to the CDH1 protein. Phenotypic analysis revealed unique dental phenotypes in patients with BCD syndrome, such as oligodontia, conical-shaped teeth, and notching of the incisal edges. Our results broaden the variation spectrum of BCD syndrome and phenotype spectrum of CDH1, which can help with the clinical diagnosis, treatment, and genetic counseling in relation to BCD syndrome. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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9 pages, 1121 KiB  
Article
Ectopic Eruption of First Permanent Molars in Children from North-Western Romania
by Rahela Tabita Moca, Raluca Iulia Juncar, Abel Emanuel Moca, Denisa Tabita Sabău, Luminița Ligia Vaida and Mihai Juncar
Diagnostics 2022, 12(11), 2731; https://doi.org/10.3390/diagnostics12112731 - 8 Nov 2022
Cited by 2 | Viewed by 2928
Abstract
Ectopic eruption of first permanent molars can lead to complications if left untreated. The aim of this study was to determine the prevalence of the ectopic eruption of first permanent molars in a sample of children from North-Western Romania, and to identify the [...] Read more.
Ectopic eruption of first permanent molars can lead to complications if left untreated. The aim of this study was to determine the prevalence of the ectopic eruption of first permanent molars in a sample of children from North-Western Romania, and to identify the characteristic of this anomaly in the studied population. We included patients aged between 5 and 9 years, and patients who needed a radiological examination for the diagnosis and treatment of dental or dento-maxillary diseases. The following exclusion criteria were applied: unclear or poor-quality radiographs; radiographs that belonged to patients who benefited from an orthodontic treatment before the panoramic radiograph was taken; patients who were undergoing orthodontic treatment when the radiograph was taken; and patients with local or general diseases that could influence dento-facial growth and development. Three degrees of severity were selected (moderate, severe, and very severe). The sample consisted of 438 patients, and 61 patients were diagnosed with ectopic eruption of first permanent molars (13.92%). Out of the 1752 analyzed molars, 103 were affected (5.87%). Patients with a moderate degree of ectopy were more frequently boys (56%, n = 14), while patients with a severe degree of ectopy were more frequently girls (52.8%, n = 19). Patients with a moderate degree of ectopy had significantly more frequently a unilateral position (57.1%, n = 16), while patients with a very severe degree of ectopy had significantly more frequently a bilateral position (36.4%, n = 12). The ectopic eruption was diagnosed at the level of the upper-right first permanent molar in a percentage of 18.4% (n = 19), at the level of the upper-left first permanent molar in a percentage of 17.5% (n = 18), at the level of the lower-right first permanent molar in a percentage of 32% (n = 33), and at the level of the lower-left first permanent molar in a percentage of 32% (n = 33). Although not very frequent, the ectopic eruption of first permanent molars is an important anomaly that should be early diagnosed, monitored and treated. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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9 pages, 4405 KiB  
Case Report
Clinical Aspects and Therapeutic Management of an Aggressive Manifestation of Stage III Grade C Periodontitis in a Female Teenager
by Stana Păunica, Marina-Cristina Giurgiu, Dragoș Nicolae Ciongaru, Cristiana-Elena Pădure, Ștefan Dimitrie Albu, Silviu-Mirel Pițuru and Anca Silvia Dumitriu
Diagnostics 2023, 13(6), 1077; https://doi.org/10.3390/diagnostics13061077 - 13 Mar 2023
Cited by 1 | Viewed by 3033
Abstract
The main objective of this study was to evaluate the improvement of periodontal health in patients with periodontitis treated with non-surgical periodontal therapy and subgingival-administrated local and systemic antimicrobial agents. A female teenager with periodontitis-associated health issues and a history of dental trauma [...] Read more.
The main objective of this study was to evaluate the improvement of periodontal health in patients with periodontitis treated with non-surgical periodontal therapy and subgingival-administrated local and systemic antimicrobial agents. A female teenager with periodontitis-associated health issues and a history of dental trauma was selected for this study. Clinical indices were obtained, and radiographic examination was performed at the beginning of the study. The patient was treated with periodontal therapy and administration of antibiotics. After this therapy, visits were scheduled at regular intervals to observe the clinical changes. Non-surgical periodontal therapy and administration of local and systemic antibiotics resulted in a reduction in the patient pocket depth probing, plaque index, and bleeding on probing. Gingival and periodontal health improved in terms of gingival overgrowth, plaque, tartar index, and tooth mobility. Suppuration was eliminated, and no gingival inflammation signs were observed. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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11 pages, 11454 KiB  
Case Report
A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment
by Piranit Kantaputra, Niramol Leelaadisorn, Athiwat Hatsadaloi, Natalina Quarto, Worrachet Intachai, Sissades Tongsima, Katsushige Kawasaki, Atsushi Ohazama, Chumpol Ngamphiw and Paswach Wiriyakijja
Diagnostics 2023, 13(5), 895; https://doi.org/10.3390/diagnostics13050895 - 27 Feb 2023
Viewed by 1416
Abstract
Background: Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique [...] Read more.
Background: Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique clinical manifestations, including multiple supernumerary cusps, single prominent premolars, and single-rooted molars. Methods: Oral and radiographic examination and whole-exome or Sanger sequencing were performed in seven patients. Immunohistochemical study during early tooth development in mice was performed. Results: A heterozygous variant (c. 865A>G; p.Ile289Val) in CACNA1S was identified in all the patients, but not in an unaffected family member and control. Immunohistochemical study showed high expression of Cacna1s in the secondary enamel knot. Conclusions: This CACNA1S variant seemed to cause impaired dental epithelial folding; too much folding in the molars and less folding in the premolars; and delayed folding (invagination) of HERS, which resulted in single-rooted molars or taurodontism. Our observation suggests that the mutation in CACNA1S might disrupt calcium influx, resulting in impaired dental epithelium folding, and subsequent abnormal crown and root morphology. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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11 pages, 2085 KiB  
Case Report
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
by Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi and Rita Mancini
Diagnostics 2022, 12(12), 2997; https://doi.org/10.3390/diagnostics12122997 - 30 Nov 2022
Cited by 1 | Viewed by 2605
Abstract
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the [...] Read more.
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the GNAS pathogenic variant. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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11 pages, 622 KiB  
Systematic Review
Update in the Diagnosis and Treatment of Root Canal Therapy in Temporary Dentition through Different Rotatory Systems: A Systematic Review
by Mª Dolores Casaña Ruiz, Laura Marqués Martínez and Esther García Miralles
Diagnostics 2022, 12(11), 2775; https://doi.org/10.3390/diagnostics12112775 - 13 Nov 2022
Viewed by 1968
Abstract
The need to perform fast, effective and efficient pulpectomies has led to the development of numerous valid rotary systems. Its technical features allow the clinician to obtain good results in less working time. The objective of this study is to compare the characteristics [...] Read more.
The need to perform fast, effective and efficient pulpectomies has led to the development of numerous valid rotary systems. Its technical features allow the clinician to obtain good results in less working time. The objective of this study is to compare the characteristics of the different current rotary systems to favor a correct diagnosis and subsequent treatment. A systematic review of the literature has been carried out in accordance with the PRISMA recommendations. A search was carried out in PubMed, Embase Scopus, Cochrane and Web of Science databases, and was completed with a manual search. The following variables were extracted from the selected studies: author, year, sample, rotary systems used (length, diameter, taper, speed), obturation material and irrigant. From the initial electronic search of the five databases, 315 articles were identified. Once the duplicate articles were eliminated, a total of 233 remained. After reading both title and abstract, 200 articles were eliminated, leaving 33. On account of reading the full text, 22 were eliminated for not answering the research question or the inclusion criteria, leaving a total of 11 articles for the systematic review. Rotary systems which are able to adapt to the root anatomy of primary teeth and allow rapid and simple instrumentation, without producing excessive extrusion of debris at the root apex, will be the ones that provide the best results to the pediatric dentist during the performance of pulp treatment in primary teeth. Clinical success will only be achieved through proper prior diagnosis. Full article
(This article belongs to the Special Issue Diagnosis of Dental Diseases)
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