1.Clinical application of SNP haplotype analysis in the preimplantation genetic diagnosis (PGD) of monogenic diseases
Jiang WANG ; Jiahong ZHU ; Dongyun LIU ; Shun XIONG ; Wei HAN ; Yao HE ; Guoning HUANG
Chinese Journal of Clinical Laboratory Science 2019;37(2):101-104
Objective:
To investigate the clinical application value of single nucleotide polymorphism (SNP) haplotype analysis in the preimplantation genetic diagnosis (PGD) of monogenic diseases.
Methods:
The whole genome amplification products of biopsied trophectoderm cells were analyzed by SNP haplotype analysis and verified by Sanger sequencing.
Results:
A total of 205 embryos were performed SNP haplotype analysis and Sanger sequencing. Among them, Sanger sequencing failed in 14.63% (30/205) of embryos, and SNP haplotype analysis failed in 0.98% (2/205) of embryos. The failure rate of the latter was significantly lower than that of the former (P<0.05). There were consistent results in 155 (75.61%) embryos, and inconsistent results in 18 (8.78%) embryos. Forty-five embryos in 41 cycles were performed embryo transplantation. The clinical pregnancy rate was 70.73% (29/41) and the implantation rate was 71.11% (32/45). The results of prenatal diagnosis of amniotic fluid during the second trimester of pregnancy were completely consistent with those of SNP haplotype analysis.
Conclusion
SNP haplotype analysis is accurate, and its failure rate is lower than that of Sanger sequencing. It can be effectively used in the PGD of clinical monogenic diseases.
2.Malaysian Journal of Public Health Medicine
Public Health Physicians& ; rsquo ; Association
Malaysian Journal of Public Health Medicine 2019;19(Suppl. 2):1-187
3.Effect of electrochemically dealloying Ti6Al4V abutments on human gingival fibroblasts
CAI Dongxuan ; LI Yi ; WANG Lan ; ZHANG Yan ; LI Guangwen ; ZHANG Yumei
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(3):169-177
Objective:
To investigate the effects of electrochemically dealloying of Ti6Al4V abutments on human gingival fibroblasts (HGFs) and to provide experimental evidence for surface modification of implant abutments.
Methods:
The samples were divided into an NC group (negative control, no other treatment on a smooth surface), an NM-1 group (nanomesh-1, electrochemical dealloying treatment in 1 mol/L NaOH 1 h on 2 V voltage), and an NM-2 group (nanomesh-2, electrochemical dealloying treatment in 5 mol/L NaOH 1 h on 2 V voltage). The surface morphologies of the samples and the adhesion of HGFs on the sample surfaces were observed with scanning electron microscopy (SEM). The surface hydrophilicities of the samples were measured with a contact angle measuring instrument. The proliferation of HGFs on the different samples were evaluated with CCK-8, and the expression of adhesion-related genes, including collagen Ⅰ (COL1A1), collagen Ⅲ (COL3A1), fibronectin 1 (FN1), focal adhesion kinase (FAK), vinculin (VCL), integrin α2 (ITGA2), and integrin β1 (ITGB1), on the different samples was measured with qRT-PCR. The expression of vinculin on the surfaces of HGFs was observed via confocal laser scanning microscopy (CLSM) after immunofluorescent staining. Collagen fiber secretion and syntheses of HGFs from different samples were evaluated via Sirius red staining.
Results:
SEM revealed the formation of ordered and uniform three-dimensional mesh structures on the surfaces of the NM-1 and NM-2 groups, with grid diameters of approximately 30 nm for the NM-1 group and approximately 150 nm for the NM-2 group. Compared with that of the NC group, the water contact angles of the NM-1 group and NM-2 groups were significantly lower (P<0.000 1). Cell proliferation in the NM-1 group was significantly greater than that in the NC group (P<0.01). Moreover, there was no significant difference in the water contact angles or cell proliferation between the NM-1 group and the NM-2 group. SEM revealed that HGFs were adhered well to the surfaces of all samples, while the HGFs in the NM-1 and NM-2 groups showed more extended areas, longer morphologies, and more developed pseudopodia than did those in the NC group after 24 h. qRT-PCR revealed that the expression levels of the adhesion-related genes COL1A1, COL3A1, FN1, FAK and VCL in the NM-1 group were significantly greater than those in the NC and NM-2 groups (P<0.01). The expression of vinculin protein in the NM-1 group was the highest, and the number of focal adhesions was greatest in the NM-1 group (P<0.01). The results of Sirius red staining showed that the NM-1 group had the highest secretion and syntheses of collagen fibers (P<0.000 1).
Conclusion
The three-dimensional nanomechanical structure of Ti6Al4V modified by electrochemical dealloying promoted the adhesion, proliferation, collagen fiber secretion and syntheses of HGFs, and electrochemical dealloying of Ti6Al4V with a grid diameter of approximately 30 nm obviously promoted HGF formation.
4.Bidirectional casual effects between periodontitis and Sjögren's syndrome: a Mendelian randomization study
XIE Peili ; GUO Chenmiao ; YU Ting
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(3):209-215
Objective:
To evaluate the bidirectional association between periodontitis and Sjögren's syndrome using the Mendelian randomization (MR) method.
Methods:
Genome-wide association study (GWAS) data of periodontitis (N = 45 563) and Sjögren's syndrome (N = 214 435) were selected to meet the requirements of the same ethnicity and different regions. Inverse variance-weighted (IVW), MR-Egger, and weighted median (WM) tests were used to evaluate the causal effect. Cochran's Q statistics, MR-Egger intercept, MR-PRESSO and leave-one-out analysis were used as sensitivity analyses to assess the stability and reliability of the results.
Results:
After screening, the GWAS data of Sjögren's syndrome were based on the Finnish region, and the periodontitis GWAS data were based on the UK region, both of which originated from European ancestry. Using IVW (OR = 1.017, 95% CI = 0.956-1.082), MR-Egger (OR = 0.985, 95% CI= 0.956-1.082), and WM (OR =1.021, 95% CI = 0.948-1.099), no causal effect of Sjögren's syndrome on periodontitis was found using any of the three methods. Conversely, no causal effect of periodontitis on Sjögren's syndrome was found (IVW, OR = 1.024, 95% CI = 0.852-1.230; MR-Egger, OR = 0.978, 95% CI = 0.789-1.212; WM, OR = 1.024, 95% CI = 0.846-1.260). The sensitivity analyses indicated that the results were stable and reliable. Cochran's Q test and MR-PRESSO revealed that there was no significant heterogeneity among the instrumental variables, which included single nucleotide polymorphisms (SNPs). The intercept of MR-Egger regression indicated no pleiotropy in the included SNPs. No individual SNP was found that significantly affected the results using the leave-one-out method.
Conclusion
This study does not support a bidirectional causal effect between periodontitis and Sjögren's syndrome.
5.Evaluation of condylar position in patients with malocclusion and changes in condylar position before and after orthodontic treatment using cone beam computed tomography
PAN Yihua ; ZHAO Zhihe ; LIU Jun
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(2):149-154
The functional health and stability of the oral and maxillofacial system is one of the basic goals of orthodontic treatment. Currently, it is believed that, in general, the condyle is located in the center of the joint fossa when the mandible is in an intercuspal position (ICP) in healthy normal people. At this time, the function of the temporomandibular joint (TMJ) is stable. Due to orthodontic tooth movement and subsequent occlusal changes, patients with malocclusion may experience related remodeling of the temporomandibular joint, especially changes in the position of the condyle. The position of the mandibular condyle is traditionally evaluated using a condylar position indicator. However, this method lacks consistency in obtaining condylar position changes. In recent years, in the clinical application of orthodontic treatment, cone beam computed tomography (CBCT) has become the first choice for examination. CBCT can accurately measure the interarticular space and determine changes in condylar position. This article reviews the CBCT assessment of condylar position and related research on condylar position changes in patients with malocclusion before and after orthodontic treatment. The literature review results indicate that there are differences in the condylar position of patients with different malocclusions, and the condylar position may also change before and after orthodontic treatment. With a lower radiation dose, CBCT has higher accuracy in evaluating the condylar position in patients with malocclusion who undergo orthodontic treatment, thus promoting further study of the mechanism of condylar position changes in patients with malocclusion in the future and providing more accurate and personalized guidance for patient treatment.
6.Research progress on immunomodulatory properties of periodontal ligament stem cells
WEN Wen ; TIAN Yuyang ; XIE Xudong
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(1):76-80
Periodontal ligament stem cells (PDLSCs) have the potential for multidirectional differentiation and are the preferred seed cells for periodontal tissue regeneration. In recent years, a large number of studies have confirmed that PDLSCs also possess broad immunomodulatory properties. Therefore, in-depth exploration of their specific molecular mechanisms is of great significance for the treatment of periodontitis. The aim of this paper is to summarize the research progress on the regulation of PDLSCs on various immune cells and the effect of the inflammatory environment on the immune characteristics of PDLSCs to provide an important theoretical basis for the allotransplantation of PDLSCs and improve the therapeutic effect of periodontal tissue regeneration. Studies have shown that PDLSCs possess a certain degree of immunosuppressive effect on both innate and acquired immune cells, and inflammatory stimulation may lead to the impairment of the immunoregulatory properties of PDLSCs. However, current studies are mainly limited to in vitro cell tests and lack in-depth studies on the immunomodulatory effects of PDLSCs in vivo. In vivo studies based on cell lineage tracing and conditional gene knockout technology may become the main directions for future research.
9.Research progress on the potential mechanisms of Porphyromonas gingivalis in promoting Alzheimer’s disease
WANG Yujie ; PENG Xian ; LIAO Ga ; ZHOU Xuedong
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(10):797-804
Alzheimer’s disease (AD), a common neurodegenerative disease, has been linked to periodontitis, especially Porphyromonas gingivalis (P. gingivalis) infection. This review summarizes the potential mechanisms and pathways through which P. gingivalis and its virulence factors are involved in AD pathogenesis, aiming to provide the scientific basis for the development of novel prevention and treatment strategies for AD. P. gingivalis can promote AD by exacerbating neuroinflammation, facilitating amyloid beta and Tau deposition, and disrupting the blood-brain barrier. Gingipains, secreted by P. gingivalis, serve as core effector molecules by increasing the blood-brain barrier permeability. The association between P. gingivalis and its effectors and AD pathology has been validated by metagenomic analysis and sample detection, indicating that P. gingivalis may be an environmental susceptibility factor or modifiable risk factor for AD. However, the precise mechanisms by which P. gingivalis influences AD, and its interactions with other potential AD-related factors, remain unclear. Moreover, further research needs to be conducted on the therapeutic potential of P. gingvalis intervention in improving AD.