Journal of Personalized Medicine

Research

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10 pages, 2188 KiB

Open AccessArticle

Assessment of the Accuracy of Two Different Dynamic Navigation System Registration Methods for Dental Implant Placement in the Posterior Area: An In Vitro Study

by Tai Wei, Feifei Ma, Feng Sun and Yu Ma

J. Pers. Med. 2023, 13(1), 139; https://doi.org/10.3390/jpm13010139 - 10 Jan 2023

Cited by 5 | Viewed by 1406

Abstract

Purpose: To compare the U-tube and cusp dynamic navigation system registration methods in the use of dental implant placement, and to assess the influence of the location of missing teeth on these registrations. Methods: 32 resin mandible models and 64 implants were utilized, [...] Read more.

Purpose: To compare the U-tube and cusp dynamic navigation system registration methods in the use of dental implant placement, and to assess the influence of the location of missing teeth on these registrations. Methods: 32 resin mandible models and 64 implants were utilized, with implants being placed using one of the two registration methods selected at random. Accuracy was measured through the superimposition of the final and planned implant positions. Angular deviation, 3D entry deviation, and 3D apex deviation were analyzed. Results: The overall mean 3D deviation was 1.089 ± 0.515 mm at the entry point and 1.174 ± 0.531 mm at the apex point, and mean angular deviation was 1.970 ± 1.042 degrees. No significant difference (p > 0.05) was observed when comparing these two registration methods. However, the U-tube method showed significant difference when assessing the location of missing teeth (without distal-extension absence and distal-extension absence), whereas cusp registration was unaffected. Conclusions: Both the U-tube and cusp dynamic navigation system registration methods are accurate when implemented in vitro. Besides, the cusp registration technique can also overcome several of the limitations of the U-tube approach and the accuracy of it was not influenced by the location of the missing teeth, highlighting it as a method worthy of further clinical research. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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12 pages, 1697 KiB

Open AccessArticle

Exosome-Derived microRNAs from Mouthrinse Have the Potential to Be Novel Biomarkers for Sjögren Syndrome

by Kouta Yamashiro, Tomofumi Hamada, Kazuki Mori, Keitaro Nishi, Maya Nakamura, Mahiro Beppu, Akihiko Tanaka, Hiroshi Hijioka, Yoshiaki Kamikawa and Tsuyoshi Sugiura

J. Pers. Med. 2022, 12(9), 1483; https://doi.org/10.3390/jpm12091483 - 10 Sep 2022

Cited by 6 | Viewed by 1419

Abstract

Sjögren syndrome (SS) is diagnosed based on invasive tissue biopsies and blood sampling. Therefore, a novel non-invasive and simple inspection diagnostic marker of SS is required. Here, we identified exosome-derived microRNAs (miRNAs) as biomarkers for SS using non-invasive mouthrinse samples collected from patients [...] Read more.

Sjögren syndrome (SS) is diagnosed based on invasive tissue biopsies and blood sampling. Therefore, a novel non-invasive and simple inspection diagnostic marker of SS is required. Here, we identified exosome-derived microRNAs (miRNAs) as biomarkers for SS using non-invasive mouthrinse samples collected from patients with SS and healthy volunteers. We compared miRNAs derived from exosomes in mouthrinse samples from the two groups using microarrays and real-time polymerase chain reaction (PCR) and identified 12 miRNAs as biomarker candidates. The expression ratios of four miRNAs were significantly increased in the SS group compared to the control group. Logistic regression analysis revealed a more significant influence of miR-1290 and let-7b-5p in the SS group than that in the control group. We combined these miRNAs to create a diagnostic prediction formula using logistic regression analysis. The combination of miR-1290 and let-7b-5p distinguished SS from the control samples with an AUC, sensitivity, specificity, positive predictive value, and negative predictive value of 0.856, 91.7%, 83.3%, 84.6%, and 90.9%, respectively. These results indicated that an increased ratio of these miRNAs could serve as a novel and non-invasive diagnostic marker for SS. This is the first report of diagnosis and screening of SS by adopting a non-invasive method using mouthrinse. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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11 pages, 3486 KiB

Open AccessArticle

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia

by Yejin Lee, Wonseon Chae, Youn Jung Kim and Jung-Wook Kim

J. Pers. Med. 2022, 12(9), 1401; https://doi.org/10.3390/jpm12091401 - 29 Aug 2022

Cited by 1 | Viewed by 1558

Abstract

The process of tooth formation is a series of reciprocal interactions between the ectoderm and mesoderm, and it is believed that many genetic factors are involved in this complex process. More than a dozen genes have been identified in non-syndromic tooth agenesis; however, [...] Read more.

The process of tooth formation is a series of reciprocal interactions between the ectoderm and mesoderm, and it is believed that many genetic factors are involved in this complex process. More than a dozen genes have been identified in non-syndromic tooth agenesis; however, the genetic etiology underlying tooth agenesis is not fully understood yet. In this study, we identified two novel LRP6 mutations in two non-syndromic oligodontia families. Both probands had 16 and 17 missing teeth in their permanent dentition. Mutational analysis identified a de novo frameshift mutation by a 1-bp insertion in exon 9 (NM_002336.2: c.1870dupA, p.(Met624Asnfs*29)) and a splicing donor site mutation in intron 8 (c.1762+2T>C). An in vitro splicing assay confirmed the deletion of exon 8, and the deletion would result in a frameshift. Due to the premature termination codons introduced by the frameshift, both mutant transcripts would be degraded by nonsense-mediated mRNA decay, resulting in haploinsufficiency. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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12 pages, 1783 KiB

Open AccessArticle

Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects

by Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C.-C. Hu and Jung-Wook Kim

J. Pers. Med. 2022, 12(6), 1002; https://doi.org/10.3390/jpm12061002 - 19 Jun 2022

Cited by 8 | Viewed by 1894

Abstract

Hereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophosphoprotein (DSPP) gene have been identified to cause DGI type II and III and DD type II; [...] Read more.

Hereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophosphoprotein (DSPP) gene have been identified to cause DGI type II and III and DD type II; therefore, these are not three different conditions, but rather allelic disorders. In this study, we recruited three families with varying clinical phenotypes from DGI-III to DD-II and performed mutational analysis by candidate gene analysis or whole-exome sequencing. Three novel mutations including a silent mutation (NM_014208.3: c.52-2del, c.135+1G>C, and c.135G>A; p.(Gln45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of the dentin defects. This study did not only expand the mutational spectrum of DSPP gene, but also advanced our understanding of the molecular pathogenesis impacting the severity of hereditary dentin defects. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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10 pages, 3084 KiB

Open AccessArticle

Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta

by Yejin Lee, Hong Zhang, Figen Seymen, Youn Jung Kim, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C.-C. Hu and Jung-Wook Kim

J. Pers. Med. 2022, 12(2), 150; https://doi.org/10.3390/jpm12020150 - 24 Jan 2022

Cited by 1 | Viewed by 2617

Abstract

Amelogenesis imperfecta (AI) is a group of rare genetic diseases affecting the tooth enamel. AI is characterized by an inadequate quantity and/or quality of tooth enamel and can be divided into three major categories: hypoplastic, hypocalcified and hypomaturation types. Even though there are [...] Read more.

Amelogenesis imperfecta (AI) is a group of rare genetic diseases affecting the tooth enamel. AI is characterized by an inadequate quantity and/or quality of tooth enamel and can be divided into three major categories: hypoplastic, hypocalcified and hypomaturation types. Even though there are some overlapping phenotypes, hypomaturation AI enamel typically has a yellow to brown discoloration with a dull appearance but a normal thickness indicating a less mineralized enamel matrix. In this study, we recruited four Turkish families with hypomaturation AI and performed mutational analysis using whole exome sequencing. These analyses revealed two novel homozygous mutations in the KLK4 gene: a nonsense mutation in exon 3 (NM_004917.4:c.170C>A, p.(Ser57*)) was found in families 1, 2 and 3 and a missense mutation in exon 6 (c.637T>C, p.(Cys213Arg)) in family 4. Functional analysis showed that the missense mutation transcript could not translate the mutant protein efficiently or generated an unstable protein that lacked functional activity. The two novel inactivating KLK4 mutations we identified caused a hypomaturation AI phenotype similar to those caused by the four previously described KLK4 nonsense and frameshift mutations. This study improves our understanding of the normal and pathologic mechanisms of enamel formation. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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10 pages, 1945 KiB

Open AccessArticle

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta

by Figen Seymen, Hong Zhang, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C.-C. Hu and Jung-Wook Kim

J. Pers. Med. 2022, 12(1), 13; https://doi.org/10.3390/jpm12010013 - 28 Dec 2021

Cited by 8 | Viewed by 2182

Abstract

Amelogenesis imperfecta (AI) is a rare genetic condition affecting the quantity and/or quality of tooth enamel. Hypomaturation AI is characterized by brownish-yellow discoloration with increased opacity and poorly mineralized enamel prone to fracture and attrition. We recruited three families affected by hypomaturation AI [...] Read more.

Amelogenesis imperfecta (AI) is a rare genetic condition affecting the quantity and/or quality of tooth enamel. Hypomaturation AI is characterized by brownish-yellow discoloration with increased opacity and poorly mineralized enamel prone to fracture and attrition. We recruited three families affected by hypomaturation AI and performed whole exome sequencing with selected individuals in each family. Bioinformatic analysis and Sanger sequencing identified and confirmed mutations and segregation in the families. Family 1 had a novel homozygous frameshift mutation in GPR68 gene (NM_003485.3:c.78_83delinsC, p.(Val27Cysfs*146)). Family 2 had a novel homozygous nonsense mutation in SLC24A4 gene (NM_153646.4:c.613C>T, NP_705932.2:p.(Arg205*)). Family 3 also had a homozygous missense mutation in SLC24A4 gene which was reported previously (c.437C>T, p.(Ala146Val)). This report not only expands the mutational spectrum of the AI-causing genes but also improves our understanding of normal and pathologic amelogenesis. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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19 pages, 26791 KiB

Open AccessArticle

Evaluating the Expression of Candidate Homeobox Genes and Their Role in Local-Site Inflammation in Mucosal Tissue Obtained from Children with Non-Syndromic Cleft Lip and Palate

by Nityanand Jain and Mara Pilmane

J. Pers. Med. 2021, 11(11), 1135; https://doi.org/10.3390/jpm11111135 - 2 Nov 2021

Viewed by 1664

Abstract

Craniofacial development including palatogenesis is a complex process which requires an orchestrated and spatiotemporal expression of various genes and factors for proper embryogenesis and organogenesis. One such group of genes essential for craniofacial development is the homeobox genes, transcriptional factors that are commonly [...] Read more.

Craniofacial development including palatogenesis is a complex process which requires an orchestrated and spatiotemporal expression of various genes and factors for proper embryogenesis and organogenesis. One such group of genes essential for craniofacial development is the homeobox genes, transcriptional factors that are commonly associated with congenital abnormalities. Amongst these genes, DLX4, HOXB3, and MSX2 have been recently shown to be involved in the etiology of non-syndromic cleft lip and palate. Hence, we investigated the gene and protein expression of these genes in normal and cleft affected mucosal tissue obtained from 22 children, along with analyzing their role in promoting local-site inflammation using NF-κB. Additionally, we investigated the role of PTX3, which plays a critical role in tissue remodeling and wound repair. We found a residual gene and protein expression of DLX4 in cleft mucosa, although no differences in gene expression levels of HOXB3 and MSX2 were noted. However, a significant increase in protein expression for these genes was noted in the cleft mucosa (p < 0.05), indicating increased cellular proliferation. This was coupled with a significant increase in NF-κB protein expression in cleft mucosa (p < 0.05), highlighting the role of these genes in promotion of pro-inflammatory environment. Finally, no differences in gene expression of PTX3 were noted. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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Review

Jump to: Research

11 pages, 1247 KiB

Open AccessReview

Liquid Biopsy for Oral Cancer Diagnosis: Recent Advances and Challenges

by Yutaka Naito and Kazufumi Honda

J. Pers. Med. 2023, 13(2), 303; https://doi.org/10.3390/jpm13020303 - 8 Feb 2023

Cited by 3 | Viewed by 3654

Abstract

“Liquid biopsy” is an efficient diagnostic tool used to analyse biomaterials in human body fluids, such as blood, saliva, breast milk, and urine. Various biomaterials derived from a tumour and its microenvironment are released into such body fluids and contain important information for [...] Read more.

“Liquid biopsy” is an efficient diagnostic tool used to analyse biomaterials in human body fluids, such as blood, saliva, breast milk, and urine. Various biomaterials derived from a tumour and its microenvironment are released into such body fluids and contain important information for cancer diagnosis. Biomaterial detection can provide “real-time” information about individual tumours, is non-invasive, and is more repeatable than conventional histological analysis. Therefore, over the past two decades, liquid biopsy has been considered an attractive diagnostic tool for malignant tumours. Although biomarkers for oral cancer have not yet been adopted in clinical practice, many molecular candidates have been investigated for liquid biopsies in oral cancer diagnosis, such as the proteome, metabolome, microRNAome, extracellular vesicles, cell-free DNAs, and circulating tumour cells. This review will present recent advances and challenges in liquid biopsy for oral cancer diagnosis. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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16 pages, 1011 KiB

Open AccessReview

Searching for New Molecular Targets for Oral Squamous Cell Carcinoma with a View to Clinical Implementation of Precision Medicine

by Tomonori Sasahira, Miyako Kurihara-Shimomura, Yudai Shimojjukoku, Kaori Shima and Tadaaki Kirita

J. Pers. Med. 2022, 12(3), 413; https://doi.org/10.3390/jpm12030413 - 7 Mar 2022

Cited by 6 | Viewed by 2901

Abstract

Head and neck cancer, including oral squamous cell carcinoma (OSCC), is the eighth most common malignancy globally and is characterized by local invasiveness and high nodal metastatic potential. The OSCC incidence is also increasing, and the number of deaths is also rising steadily [...] Read more.

Head and neck cancer, including oral squamous cell carcinoma (OSCC), is the eighth most common malignancy globally and is characterized by local invasiveness and high nodal metastatic potential. The OSCC incidence is also increasing, and the number of deaths is also rising steadily in Japan. The development of molecular markers to eradicate OSCC is an urgent issue for humankind. The increase in OSCC despite the declining smoking rate may be due to several viral infections through various sexual activities and the involvement of previously unfocused carcinogens, and genetic alterations in individual patients are considered to be more complicated. Given this situation, it is difficult to combat OSCC with conventional radiotherapy and chemotherapy using cell-killing anticancer drugs alone, and the development of precision medicine, which aims to provide tailor-made medicine based on the genetic background of each patient, is gaining attention. In this review article, the current status of the comprehensive search for driver genes and biomarkers in OSCC will be briefly described, and some of the candidates for novel markers of OSCC that were found will be outlined. Full article

(This article belongs to the Special Issue Precision Medicine in Oral Science and Dentistry)

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