Cleidocranial dysplasia, a rare genetic disorder primarily caused by Runt-related transcription factor 2 (RUNX2) heterozygous mutation, serves as a representative model for investigating regulatory mechanisms of RUNX2 in bone remodeling and tooth eruption. As a master transcription factor governing mineralized tissue development, RUNX2 orchestrates bone remodeling and tooth eruption through diverse regulatory networks. It drives alveolar bone formation via transcriptional activation, integration of multiple signaling cascades, and epigenetic modifications, thereby generating the biomechanical force for tooth eruption. Concurrently, RUNX2 promotes osteoblastic secretion of osteoclastogenic factors and directly regulates osteoclast precursor differentiation, facilitating bone resorption at the coronal aspect of dental follicles to estavlish the eruption pathway. Furthermore, RUNX2 modulates eruption progression by participating in stress-induced biological signal transduction within dental follicle cells (DFCs), remodeling the DFCs microenvironment, and regulating DFCs senescence. RUNX2 also influences root development via the NOTUM-Wnt axis, providing auxiliary biomechanical conditions conducive to eruption. This review systematically delineates the pivotal role of RUNX2 in coordinating bone remodeling and tooth eruption. Future studies should leverage organoid models and multi-omics technologies to further elucidate the spatiotemporal regulatory networks of RUNX2, potentially advancing precision diagnostics and therapeutics for rare skeletal-dental developmental disorders.

Cleidocranial dysplasia, a rare genetic disorder primarily caused by Runt-related transcription factor 2 (RUNX2) heterozygous mutation, serves as a representative model for investigating regulatory mechanisms of RUNX2 in bone remodeling and tooth eruption. As a master transcription factor governing mineralized tissue development, RUNX2 orchestrates bone remodeling and tooth eruption through diverse regulatory networks. It drives alveolar bone formation via transcriptional activation, integration of multiple signaling cascades, and epigenetic modifications, thereby generating the biomechanical force for tooth eruption. Concurrently, RUNX2 promotes osteoblastic secretion of osteoclastogenic factors and directly regulates osteoclast precursor differentiation, facilitating bone resorption at the coronal aspect of dental follicles to estavlish the eruption pathway. Furthermore, RUNX2 modulates eruption progression by participating in stress-induced biological signal transduction within dental follicle cells (DFCs), remodeling the DFCs microenvironment, and regulating DFCs senescence. RUNX2 also influences root development via the NOTUM-Wnt axis, providing auxiliary biomechanical conditions conducive to eruption. This review systematically delineates the pivotal role of RUNX2 in coordinating bone remodeling and tooth eruption. Future studies should leverage organoid models and multi-omics technologies to further elucidate the spatiotemporal regulatory networks of RUNX2, potentially advancing precision diagnostics and therapeutics for rare skeletal-dental developmental disorders.

Saliva is an important body fluid in the oral cavity containing lots of biomarkers, whose inherent micro-ecosystem holds significant value for early diagnosis and monitoring of oral diseases. Simultaneously, saliva has particular advantages, such as ease of sampling, painless and non-invasive collection, and suitability for repeated sampling, making it highly appropriate for surveillance and follow-up of diseases. In a series of studies conducted by the research group for preventive dentistry in Peking University School and Hospital of Stomatology, we compared different segments of saliva and those samples collected via different sampling methods using proteomic/peptidomic and microbiomic technologies to explore the stability of saliva samples. Besides, the significance of applying representative salivary biomarkers in early prevention and control of representative oral diseases (e.g. dental caries, periodontal diseases) and systemic conditions (e.g. type 2 diabetes mellitus, chronic kidney disease) was confirmed as well.
Humans ; Saliva/chemistry* ; Dental Caries/diagnosis* ; Biomarkers/analysis* ; Periodontal Diseases/diagnosis* ; Mouth Diseases/diagnosis* ; Proteomics/methods* ; Diabetes Mellitus, Type 2/diagnosis* ; Microbiota ; Renal Insufficiency, Chronic/prevention & control*

The biological samples of oral genetic diseases and rare diseases are extremely precious. Collecting and preserving these biological samples are helpful to elucidate the mechanisms and improve the level of diagnose and treatment of oral genetic diseases and rare diseases. The standardized construction of biobanks for oral genetic diseases and rare diseases is important for achieving these goals. At present, there is very little information on the construction of these biobanks, and the standards or suggestions for the classification and coding of biological samples from oral and maxillofacial sources, and this is not conducive to the standardization and information construction of biobanks for special oral diseases. This consensus summarizes the background, necessity, principles, and key points of constructing the biobank for oral genetic diseases and rare diseases. On the base of the group standard "Classification and Coding for Human Biomaterial" (GB/T 39768-2021) issued by the National Technical Committee for Standardization of Biological Samples, we suggest 76 new coding numbers for different of biological samples from oral and maxillofacial sources. We hope the consensus may promote the standardization, and smartization on the biobank construction as well as the overall research level of oral genetic diseases and rare diseases in China.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with resistance to thyroid hormone syndrome (RTH). METHODS: Exons 7 to 10 of the THRbeta gene were sequenced for the proband and members of his pedigree. RESULTS: Three patients from the pedigree were identified. All have presented with palpitation, fatigue, goiter, elevated free thyroid hormone and free triiodothyronine, and normal or elevated thyrotropin. Genetic testing revealed that the proband, his mother, second sister and one of her daughters had carried a heterozygous c.1336T>A variant of the THRbeta gene, which resulted in substitution of Cysteine by Serine at position 446. The variant was unreported previously. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1336T>A(p.Cys446Ser) variant of THRbeta gene was predicted to be lilely pathogenic(PM1+PM2+PM5+PP3). CONCLUSION The c.1336T>A variant, identified in the exon 10 of the THRbeta gene, probably underlay the RTH in this pedigree. Genetic testing has validated the clinical diagnosis for this pedigree.
Female ; Genomics ; Heterozygote ; Humans ; Mothers ; Mutation ; Pedigree

Objective:To study the use of laparoscopic hepatic vein guided anatomic hepatectomy in the treatment of hepatocellular carcinoma.Methods:The clinical and follow-up data of 62 patients who underwent laparoscopic anatomic hepatectomy at the Department of Hepatobiliary Surgery of Southwest Hospital of the Army Medical University from January 2015 to February 2018 and met the inclusion criteria of the study were retrospectively analyzed. The operation procedure as to whether the main hepatic vein was exposed or not was determined. The patients were divided into the hepatic vein-oriented hepatectomy (HVOH) group when the main hepatic vein was exposed, and the traditional anatomic hepatectomy (TAH) group when the main hepatic vein was not shown. The perioperative and follow-up data of the two methods were compared.Results:A total of 31 cases were included in the HVOH group, there were 28 males and 3 females, age ranged from 29.0-70.0 (49.9±11.2) years. A total of 31 cases were included in the TAH group, there were 27 males and 4 females, age ranged from 22.0-73.0 (51.4±12.1) years. There were no significant differences in operation time, intraoperative blood loss, postoperative hospital stay, intraoperative conversion to open, and perioperative blood transfusion rates between the two groups ( P>0.05). The incidence of postoperative complication was significantly lower in the HVOH group than in the TAH group [9.7% (3/31) vs. 32.2% (10/31)] ( P<0.05), but no serious complications occurred (Clavein Level IV) in this study. The one-year tumor-free survival rate in the HVOH group was significantly higher than that in the TAH group (77.4% vs. 51.6%), ( P<0.05). There were no significant differences in the 1- and 3-year overall survival rates and tumor-free survival rates between the two groups ( P>0.05). Conclusion:Laparoscopic hepatic vein-guided anatomic hepatectomy for hepatocellular carcinoma had the potential advantages in reducing the perioperative complication rate, and enhanced the early tumor-free survival rates.

Objective: To explore peptidomic changes of peptides in saliva and gingival crevicular fluid (GCF) before and after treatment of gingivitis. Methods: From January 2017 to September 2017, seventeen participants at the age of 24-62 (6 males and 11 females) at Department of Preventive Dentistry, Peking University School and Hospital of Stomatology with gingivitis were recruited in the present study. Their clinical parameters were measured and recorded. Saliva and GCF samples were collected from each of the participants at the baseline and 7 days after ultrasonic supragingival scaling, respectively. Matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF MS) was employed to detect the changes of peptidomic profiles, while ano-liquid chromatography-electrospray ionization-tandem mass spectrometry (nano-LC/ESI-MS/MS) was performed to identify the possible proteins from which the peptides might derive. Results: Initially, four peptide peaks [mass-to-charge ratio (m/z) values: 1 030.6, 1 043.4, 1 053.4 and 1 064.6] were screened out exhibiting a decreasing trend after treatment (P<0.05). Besides, five peptide peaks from gingival crevicular fluid (P<0.05) exhibited differential expression, among which 1 055.5 and 1 168.3 demonstrating a decrease after treatment, while 3 363.7, 3 480.9 and 3 489.5 increased overtime. Certain positive correlations were detected between some peptides and clinical parameters. Principle component analysis using the above mentioned peptide peaks showed a distinct distribution before and after treatment and peptides from GCF showed a slightly better capacity to discriminate patients before and after treatment. The peptides with m/z values of 1 055.5 in GCF and 1 064.6 in saliva were identified to be segments of serum albumin and complement C3, respectively. Conclusions Several differentially expressed peptides were detected in saliva and GCF by MALDI-TOF MS, exhibiting the potentiality to act as biomarkers in gingivitis patients.

Objective To explore peptidomic changes of peptides in saliva and gingival crevicular fluid (GCF) before and after treatment of gingivitis. Methods From January 2017 to September 2017, seventeen participants at the age of 24?62 (6 males and 11 females) at Department of Preventive Dentistry, Peking University School and Hospital of Stomatology with gingivitis were recruited in the present study. Their clinical parameters were measured and recorded. Saliva and GCF samples were collected from each of the participants at the baseline and 7 days after ultrasonic supragingival scaling, respectively. Matrix?assisted laser desorption?ionization time?of?flight mass spectrometry (MALDI?TOF MS) was employed to detect the changes of peptidomic profiles, while ano?liquid chromatography?electrospray ionization?tandem mass spectrometry (nano?LC/ESI?MS/MS) was performed to identify the possible proteins from which the peptides might derive. Results Initially, four peptide peaks [mass?to?charge ratio (m/z) values: 1 030.6, 1 043.4, 1 053.4 and 1 064.6] were screened out exhibiting a decreasing trend after treatment (P<0.05). Besides, five peptide peaks from gingival crevicular fluid (P<0.05) exhibited differential expression, among which 1 055.5 and 1 168.3 demonstrating a decrease after treatment, while 3 363.7, 3 480.9 and 3 489.5 increased overtime. Certain positive correlations were detected between some peptides and clinical parameters. Principle component analysis using the above mentioned peptide peaks showed a distinct distribution before and after treatment and peptides from GCF showed a slightly better capacity to discriminate patients before and after treatment. The peptides with m/z values of 1 055.5 in GCF and 1 064.6 in saliva were identified to be segments of serum albumin and complement C3, respectively. Conclusions Several differentially expressed peptides were detected in saliva and GCF by MALDI?TOF MS, exhibiting the potentiality to act as biomarkers in gingivitis patients.

Objective To evaluate the serum 25-hydroxy vitamin D 3 level in newly diagnosed type 2 diabe-tes,and its relationship with function of islet beta cell .Methods 60 newly diagnosed type 2 diabetes patients and 48 normal glucose tolerance healthy control cases were selected .The level of serum 25-hydroxy vitamin D3 of two groups were measured using the way of high performance liquid chromatograph .The difference was compared between two groups.Insulin resistance index(HOMA-IR) and islet beta cell secrete index(HOMA-β) was used to respectively es-timate insulin sensitivity and islet beta cell function in type 2 diabetes group .The correlation was analyzed between 25-hydroxy vitamin D 3 and fasting blood glucose ,HOMA-IR,HOMA-β.Results The level of serum 25-hydroxy vita-min D3 (28.68 ±1.61) ng/mL in type 2 diabetes group was significantly lower than that of control group (41.30 ± 1.12)ng/mL(t=3.47,P<0.01).There is negative correlation between 25-hydroxyl vitamin D3 and fasting glucose (r=0.48,P<0.05).There was positive correlation between 25-hydroxy vitamin D3 and HOMA-IR(r=0.52,P<0.05).There was no correlation between 25-hydroxy vitamin D3 and HOMA-β(r=-0.06,P>0.05).Conclusion The level of 25-hydroxy vitamin D 3 was significantly low in newly diagnosed type 2 diabetes patients .Low serum 25-hydroxyl vitamin D 3 level affects islet beta secretion cell function ,the supplementation of vitamin D 3 may be a simple and effective method to reduce the ocurrence of type 2 diabetes .