Research

Jump to: Review

Open AccessArticle

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta

by

,

,

,

,

,

,

,

and

J. Pers. Med. 2023, 13(2), 326; https://doi.org/10.3390/jpm13020326 - 14 Feb 2023

Viewed by 1325

Abstract

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be [...] Read more.

Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72 structure and function are discussed. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessArticle

Application of the Homologous Modeling Technique for Precision Medicine in the Field of Oral and Maxillofacial Surgery

by

,

,

,

,

,

and

J. Pers. Med. 2022, 12(11), 1831; https://doi.org/10.3390/jpm12111831 - 03 Nov 2022

Viewed by 835

Abstract

In the field of oral and maxillofacial surgery, establishment of a new method for predicting morphology is desirable. Therefore, the purpose of the present study was to establish a new method for predicting the original shape of a mandibular defect site using the [...] Read more.

In the field of oral and maxillofacial surgery, establishment of a new method for predicting morphology is desirable. Therefore, the purpose of the present study was to establish a new method for predicting the original shape of a mandibular defect site using the homologous modeling technique. This study used data from 44 patients who underwent computed tomography in the Department of Oral Surgery at Osaka Medical College. Two types of homologous models were constructed: total mandible (TM) and half mandible (HM). Principal component analysis (PCA) was performed using point cloud data of the homologous model M and homologous model HM, and a multiple regression equation was created using the PC value of TM as the object variable and PC value of HM as the explanatory variable. The predicted PC (M) was created from PC (HM) using a regression formula, back-calculated from point cloud data from PC (M), to create the predicted mandible model. Finally, the original image (TC-M) and estimated mandible were superposed and examined. The mean absolute error between the predicted mandible and actual mandible was 1.04 ± 1.35 mm. We believe that this method will be applicable in actual clinical practice. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessArticle

A Preliminary Study of Interdisciplinary Approach with a Single-Stage Surgery in Children with Cleft Lip and Palate

by

,

,

,

,

,

and

J. Pers. Med. 2022, 12(10), 1741; https://doi.org/10.3390/jpm12101741 - 20 Oct 2022

Cited by 1 | Viewed by 1502

Abstract

A two-stage surgical procedure involving labioplasty and palatoplasty is a common surgical modality performed in children with cleft lip and palate. Additionally, an alveolar cleft bone graft is performed prior to the eruption of the canine teeth. These three surgeries impose the burden [...] Read more.

A two-stage surgical procedure involving labioplasty and palatoplasty is a common surgical modality performed in children with cleft lip and palate. Additionally, an alveolar cleft bone graft is performed prior to the eruption of the canine teeth. These three surgeries impose the burden of general anesthesia separately for each procedure, and the formation of scar tissue from the procedure inhibits maxillary growth. We adopted a single-stage surgical procedure to overcome these drawbacks. To date, there have been no reports comparing the treatment outcomes of alveolar morphology and maxillary growth and development in children who underwent single-stage surgery with those who underwent two-stage surgery using plaster casts and cephalograms. Twenty children aged 5–7 years were equally divided into two groups based on whether they had undergone a two- or single-stage procedure. Cephalometric analysis and analysis of dentition models were conducted. The results showed that the single-stage surgery exhibited significant differences in the sella-nasion angle, point A to McNamara line, maxillary length, mandibular body length, and posterior arch width and length compared with the two-stage surgery. Therefore, it was suggested that the single-stage surgery had a favorable effect on maxillary growth compared with the two-stage surgery. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessArticle

The Stages and Grades of Periodontitis Are Risk Indicators for Peri-Implant Diseases—A Long-Term Retrospective Study

by

,

,

,

,

and

J. Pers. Med. 2022, 12(10), 1723; https://doi.org/10.3390/jpm12101723 - 15 Oct 2022

Cited by 2 | Viewed by 1071

Abstract

The aim of this study is to evaluate the factors of implant failure in patients with periodontitis and their impact on the prognosis of having a peri-implant disease and/or implant failure. Data regarding 325 implants among 84 patients with periodontitis were retrospectively examined. [...] Read more.

The aim of this study is to evaluate the factors of implant failure in patients with periodontitis and their impact on the prognosis of having a peri-implant disease and/or implant failure. Data regarding 325 implants among 84 patients with periodontitis were retrospectively examined. Patients were classified by Stage (I, II, III, IV) and Grade (A, B, C), implant failures for peri-implant disease and lack of osseointegration. Clinical data, including implant- and patient-related variables were evaluated by principal components analysis (PCA) and two-step cluster analysis (CA). Survival and success rates were 96.3% and 87.1%, respectively. Prevalence of peri-implant disease was significantly higher in Stage IV patients (p < 0.05), and incidence of lost implant due to peri-implantitis was significantly higher in patients with bone augmentation (BA) (p < 0.05). PCA and CA revealed five of eleven variables and four clusters at patient level, and six of fourteen variables and three clusters at implant level. Stage and Grade are useful indicators for the development of peri-implant diseases in which BA and the number of implants are involved. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Review

Jump to: Research

Open AccessReview

Targeted Therapy for Orofacial Pain: A Novel Perspective for Precision Medicine

by

,

,

and

J. Pers. Med. 2023, 13(3), 565; https://doi.org/10.3390/jpm13030565 - 22 Mar 2023

Cited by 1 | Viewed by 1022

Abstract

Orofacial pain (OFP) is a dental specialty that includes the diagnosis, management and treatment of disorders of the jaw, mouth, face, head and neck. Evidence-based understanding is critical in effectively treating OFPs as the pathophysiology of these conditions is multifactorial. Since OFP impacts [...] Read more.

Orofacial pain (OFP) is a dental specialty that includes the diagnosis, management and treatment of disorders of the jaw, mouth, face, head and neck. Evidence-based understanding is critical in effectively treating OFPs as the pathophysiology of these conditions is multifactorial. Since OFP impacts the quality of life of the affected individuals, treating patients successfully is of the utmost significance. Despite the therapeutic choices available, treating OFP is still quite challenging, owing to inter-patient variations. The emerging trends in precision medicine could probably lead us to a paradigm shift in effectively managing the untreatable long-standing pain conditions. Precision medicine is designed based on the patient’s genetic profile to meet their needs. Several significant relationships have been discovered based on the genetics and genomics of pain in the past, and some of the notable targets are discussed in this review. The scope of this review is to discuss preclinical and clinical trials that include approaches used in targeted therapy for orofacial pain. Future developments in pain medicine should benefit from current trends in research into novel therapeutic approaches. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Considerations for Satisfactory Sedation during Dental Implant Surgery

by

,

,

,

,

and

J. Pers. Med. 2023, 13(3), 461; https://doi.org/10.3390/jpm13030461 - 01 Mar 2023

Viewed by 1078

Abstract

Implant surgery is a lengthy dental procedure, and sedation is often used to reduce discomfort. The effectiveness of sedation has traditionally been evaluated in terms of patient and surgeon satisfaction, but the most important goal is not to induce a deep sleep in [...] Read more.

Implant surgery is a lengthy dental procedure, and sedation is often used to reduce discomfort. The effectiveness of sedation has traditionally been evaluated in terms of patient and surgeon satisfaction, but the most important goal is not to induce a deep sleep in the patient, but rather to ensure that the surgery is performed safely and as planned. Additionally, adequate pain control is a necessary requirement for patient and surgeon satisfaction. Most patients undergoing implant surgery are middle-aged or older, and a relatively large number of them have cardiovascular disease. Infiltration anesthesia using articaine or lidocaine in combination with adrenaline is widely used, but its use in patients with cardiovascular disease is limited because of adrenaline’s effects on the cardiovascular system. The use of long-acting local anesthetics and the potential efficacy of ultrasound-guided jaw nerve block have been investigated to enhance analgesia without resorting to adrenaline. Midazolam and propofol are usually used for sedation, but dexmedetomidine, which causes less respiratory depression, and the ultrashort-acting benzodiazepine remimazolam are emerging as potential alternatives. Monitoring of anesthetic depth using electroencephalography is effective in maintaining a constant level of sedation. In addition, sedation promotes the stabilization of heart rate and blood pressure, reducing the risks associated with adrenaline and allowing for safer management. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

Open AccessReview

Next-Generation Examination, Diagnosis, and Personalized Medicine in Periodontal Disease

by

Takeshi Kikuchi

,

Jun-ichiro Hayashi

and

Akio Mitani

J. Pers. Med. 2022, 12(10), 1743; https://doi.org/10.3390/jpm12101743 - 20 Oct 2022

Cited by 4 | Viewed by 1602

Abstract

Periodontal disease, a major cause of tooth loss, is an infectious disease caused by bacteria with the additional aspect of being a noncommunicable disease closely related to lifestyle. Tissue destruction based on chronic inflammation is influenced by host and environmental factors. The treatment [...] Read more.

Periodontal disease, a major cause of tooth loss, is an infectious disease caused by bacteria with the additional aspect of being a noncommunicable disease closely related to lifestyle. Tissue destruction based on chronic inflammation is influenced by host and environmental factors. The treatment of periodontal disease varies according to the condition of each individual patient. Although guidelines provide standardized treatment, optimization is difficult because of the wide range of treatment options and variations in the ideas and skills of the treating practitioner. The new medical concepts of “precision medicine” and “personalized medicine” can provide more predictive treatment than conventional methods by stratifying patients in detail and prescribing treatment methods accordingly. This requires a new diagnostic system that integrates information on individual patient backgrounds (biomarkers, genetics, environment, and lifestyle) with conventional medical examination information. Currently, various biomarkers and other new examination indices are being investigated, and studies on periodontal disease-related genes and the complexity of oral bacteria are underway. This review discusses the possibilities and future challenges of precision periodontics and describes the new generation of laboratory methods and advanced periodontal disease treatment approaches as the basis for this new field. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Personalized Medicine Based on the Pathogenesis and Risk Assessment of Endodontic–Periodontal Lesions

by

,

,

,

and

J. Pers. Med. 2022, 12(10), 1688; https://doi.org/10.3390/jpm12101688 - 10 Oct 2022

Viewed by 1528

Abstract

Endodontic–periodontal lesions (EPLs) are chronic inflammatory lesions in the mouth caused by multiple factors. Both periapical and marginal periodontitis are characterized by infection and inflammation around the affected teeth, suggesting that the theory of complex systems might describe the progression of EPL. The [...] Read more.

Endodontic–periodontal lesions (EPLs) are chronic inflammatory lesions in the mouth caused by multiple factors. Both periapical and marginal periodontitis are characterized by infection and inflammation around the affected teeth, suggesting that the theory of complex systems might describe the progression of EPL. The diagnosis and treatment of EPLs are complicated by variations of this condition and difficulties distinguishing EPLs from other diseases. Technological advances in diagnostic and treatment methods, including cone beam computed tomography, microscopy, mineral trioxide aggregates, and periodontal regenerative treatment, have improved outcomes, even in untreatable teeth. However, treating EPLs with iatrogenic problems and/or severe periodontitis remains challenging. Assessing the risk of each EPL based on the possible pathogenesis of each EPL is essential for determining individualized treatment and optimizing personalized medicine for individual patients. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Machine Learning in Predicting Tooth Loss: A Systematic Review and Risk of Bias Assessment

by

,

,

,

,

,

and

J. Pers. Med. 2022, 12(10), 1682; https://doi.org/10.3390/jpm12101682 - 09 Oct 2022

Cited by 3 | Viewed by 1598

Abstract

Predicting tooth loss is a persistent clinical challenge in the 21st century. While an emerging field in dentistry, computational solutions that employ machine learning are promising for enhancing clinical outcomes, including the chairside prognostication of tooth loss. We aimed to evaluate the risk [...] Read more.

Predicting tooth loss is a persistent clinical challenge in the 21st century. While an emerging field in dentistry, computational solutions that employ machine learning are promising for enhancing clinical outcomes, including the chairside prognostication of tooth loss. We aimed to evaluate the risk of bias in prognostic prediction models of tooth loss that use machine learning. To do this, literature was searched in two electronic databases (MEDLINE via PubMed; Google Scholar) for studies that reported the accuracy or area under the curve (AUC) of prediction models. AUC measures the entire two-dimensional area underneath the entire receiver operating characteristic (ROC) curves. AUC provides an aggregate measure of performance across all possible classification thresholds. Although both development and validation were included in this review, studies that did not assess the accuracy or validation of boosting models (AdaBoosting, Gradient-boosting decision tree, XGBoost, LightGBM, CatBoost) were excluded. Five studies met criteria for inclusion and revealed high accuracy; however, models displayed a high risk of bias. Importantly, patient-level assessments combined with socioeconomic predictors performed better than clinical predictors alone. While there are current limitations, machine-learning-assisted models for tooth loss may enhance prognostication accuracy in combination with clinical and patient metadata in the future. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Integrating Genetic Alterations and the Hippo Pathway in Head and Neck Squamous Cell Carcinoma for Future Precision Medicine

by

,

,

,

,

,

and

J. Pers. Med. 2022, 12(10), 1544; https://doi.org/10.3390/jpm12101544 - 20 Sep 2022

Cited by 1 | Viewed by 1912

Abstract

Genetic alterations and dysregulation of signaling pathways are indispensable for the initiation and progression of cancer. Understanding the genetic, molecular, and signaling diversities in cancer patients has driven a dynamic change in cancer therapy. Patients can select a suitable molecularly targeted therapy or [...] Read more.

Genetic alterations and dysregulation of signaling pathways are indispensable for the initiation and progression of cancer. Understanding the genetic, molecular, and signaling diversities in cancer patients has driven a dynamic change in cancer therapy. Patients can select a suitable molecularly targeted therapy or immune checkpoint inhibitor based on the driver gene alterations determined by sequencing of cancer tissue. This “precision medicine” approach requires detailed elucidation of the mechanisms connecting genetic alterations of driver genes and aberrant downstream signaling pathways. The regulatory mechanisms of the Hippo pathway and Yes-associated protein/transcriptional co-activator with PDZ binding motif (YAP/TAZ) that have central roles in cancer cell proliferation are not fully understood, reflecting their recent discovery. Nevertheless, emerging evidence has shown that various genetic alterations dysregulate the Hippo pathway and hyperactivate YAP/TAZ in cancers, including head and neck squamous cell carcinoma (HNSCC). Here, we summarize the latest evidence linking genetic alterations and the Hippo pathway in HNSCC, with the aim of contributing to the continued development of precision medicine. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Application of Reactive Oxygen Species in Dental Treatment

by

,

,

and

J. Pers. Med. 2022, 12(9), 1531; https://doi.org/10.3390/jpm12091531 - 18 Sep 2022

Cited by 2 | Viewed by 1504

Abstract

Reactive oxygen species (ROS) and free radicals, which have been implicated in inflammation, pain, carcinogenesis, and aging, are actually used in dental treatments such as tooth bleaching and composite resin polymerization. Recently, numerous studies have investigated the application of ROS in the medical [...] Read more.

Reactive oxygen species (ROS) and free radicals, which have been implicated in inflammation, pain, carcinogenesis, and aging, are actually used in dental treatments such as tooth bleaching and composite resin polymerization. Recently, numerous studies have investigated the application of ROS in the medical and dental fields. In previous studies, ROS were generated intentionally through pathways such as photolysis, photocatalytic methods, and photodynamic therapy, which are used in the medical field to target cancer. In the field of dentistry, generated ROS are applied mainly for periodontal treatment and sterilization of the root canal, and its effectiveness as an antibacterial photodynamic therapy has been widely reported.. Given this background, the present article aimed to review the basic effects of ROS in dental medicine, especially endodontic therapy, and to discuss future applications of ROS. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

Proposal for a Paradigm Shift in Personalized Medicine for Patients with a Maxillary Edentulous Jaw by ENT Specialist and Dentist Cooperation

by

Yuh Baba

,

Yasumasa Kato

and

Keiso Takahashi

J. Pers. Med. 2022, 12(8), 1289; https://doi.org/10.3390/jpm12081289 - 05 Aug 2022

Cited by 1 | Viewed by 1374

Abstract

With the spread of oral implant therapy, serious medical complications related to implant surgery are becoming a social problem. Although the number of complications after implant surgery in the edentulous jaw is decreasing in Japan, maxillary-sinus-related complications (MSRCs) have reached the highest number [...] Read more.

With the spread of oral implant therapy, serious medical complications related to implant surgery are becoming a social problem. Although the number of complications after implant surgery in the edentulous jaw is decreasing in Japan, maxillary-sinus-related complications (MSRCs) have reached the highest number since 2012. It is essential to identify and eliminate possible predisposing risk factors for MSRCs at an early stage to prevent MSRCs. In this review article, we highlight the causal factors of postoperative complications with or without sinus augmentation for the maxillary molar region to achieve optimal treatment outcomes and reduce complications. In particular, we focus on anatomical variations that can cause the impairment of maxillary sinus drainage. Furthermore, we emphasize that the paradigm for personalized medicine for patients with a maxillary edentulous jaw by ENT specialist and dentist cooperation is shifting from the traditional assessment of maxillary sinus pathologies alone to the new assessment of anatomic variations that can cause the impairment of maxillary sinus drainage in addition to maxillary sinus pathologies. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Open AccessReview

The Medical, Clinical, and Radiographic Aspects of Multiple Idiopathic Tooth Resorption: A Systematic Review

by

Raphaël Richert

,

Julie Santamaria

,

Laurent Laforest

and

Jean-Christophe Maurin

J. Pers. Med. 2022, 12(7), 1182; https://doi.org/10.3390/jpm12071182 - 20 Jul 2022

Cited by 1 | Viewed by 1174

Abstract

Background: Many causes of resorption remain unclear and are thus identified as idiopathic. In such cases, management is difficult, especially when multiple teeth are involved. The aim of the present study was to assess the literature regarding the medical, clinical, and radiographic aspects [...] Read more.

Background: Many causes of resorption remain unclear and are thus identified as idiopathic. In such cases, management is difficult, especially when multiple teeth are involved. The aim of the present study was to assess the literature regarding the medical, clinical, and radiographic aspects of multiple idiopathic resorptions (MIR) and to examine the factors associated with the risk of extraction. Methods: The title and protocol were registered a priori in PROSPERO (CRD42020191564), and the study followed the PRISMA methodology. Four electronic databases were searched to include reviews and case reports on MIR in permanent dentition. Results: Among the 1035 articles identified, 31 case reports were included. The mean age of the patients was 32 years (SD = 16.4). MIR were consistently diagnosed after radiographic evaluation and were undetected during intra-oral examination in 62% of cases. The treatment involved extraction in 77% of cases. The risk of extraction increased in the presence of periodontal inflammation. Conclusions: MIR are aggressive forms of resorption requiring routine visits. MIR mostly involve extraction and lead to a challenging prosthetic rehabilitation due to severely damaged abutment teeth. However, the current knowledge on MIR remains fragmental and based on a limited number of case reports. Full article

(This article belongs to the Special Issue Precision Medicine for Oral Diseases)

► Show Figures

Figure 1

Journal Menu

Journal Browser

Special Issue "Precision Medicine for Oral Diseases"

Share This Special Issue

Special Issue Editor

Special Issue Information

Keywords

Published Papers (13 papers)

Research

Review

Further Information

Guidelines

MDPI Initiatives

Follow MDPI