Patient's need for endodontic treatment in a short period is on the rise nowadays. Technological developments in instruments and materials are allowing single-visit endodontic treatment to be performed. The success of an endodontic treatment is also influenced by the restoration, in consideration of the remaining tooth structure. This becomes a challenge for the clinician if the cavities are large or if minimal tooth structure remains, so it needs a
minimally invasive restoration like morphology-driven preparation technique. This case report aims to describe the single-visit endodontic treatment and minimally invasive indirect restoration of the mandibular first molar. A 13-year-old girl came to the Dental Hospital of Hasanuddin University with complaints of cavities in the mandibular left posterior tooth and pain for one month. The patient had taken analgesic medication but was afforded no relief. Intraoral examination showed tooth #36 with extensive cavities reaching the proximal area, a positive thermal test, and no pain to percussion. The case diagnosis was asymptomatic irreversible pulpitis. The treatment plan was a single-visit endodontic treatment and minimally invasive indirect restoration.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Pulpitis ; Tooth ; Molar

OBJECTIVE: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies. METHODS: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members. Peripheral blood samples from affected individuals, and amniotic fluid and/or chorionic villus samples were obtained for DNA extraction. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Pathogenicity assessment and bioinformatic analysis were conducted. This study was approved by the Medical Ethics Committee of Xuzhou Central Hospital (Ethics No. XZXY-LK-20240111-0019). RESULTS: All affected individuals in this pedigree were females, whom included the proband, her mother, and her first daughter. Earlier age of onset was associated with more severe lower limb atrophy. A heterozygous missense variant of the MFN2 gene, namely c.314C>T (p.Thr105Met), was identified in the proband, her mother, daughter, and the third fetus from a re-marriage. The same variant was absent in her elder brother, current husband, and her fourth fetus. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG) and recommendations from Clinical Genome Resources (ClinGen), the variant was classified as pathogenic (PP1_Strong+PM1+PS3+PS4_Moderate+PP3_Moderate+PM2_Supporting). Analyses with PROVEAN and Mutation Taster had categorized the variant as "deleterious" and "disease-causing", respectively. Analysis with Uniprot and Jalview showed that the affected amino acid residue is conserved across multiple species. ChEBI software predicted that the variant may alter the polarity of the 105th amino acid residue. CONCLUSION The c.314C>T (p.Thr105Met) missense variant of the MFN2 gene probably underlie the CMT2A2A in this pedigree. Above finding has enabled prenatal diagnosis and genetic counseling for its subsequent pregnancies.
Adult ; Female ; Humans ; Male ; Charcot-Marie-Tooth Disease/genetics* ; East Asian People/genetics* ; Exome Sequencing ; Genetic Testing/methods* ; GTP Phosphohydrolases/genetics* ; Mitochondrial Proteins/genetics* ; Mutation, Missense ; Pedigree

OBJECTIVE: To explore the genetic etiology of a Chinese boy affected with Oculo-facio-cardio-dental syndrome (OFCD). METHODS: A child diagnosed with OFCD at West China Hospital of Sichuan University on September 21, 2024 was selected as the study subject. Clinical phenotype of the child was collected through ophthalmologic examination, cardiac ultrasonography, and X-ray imaging. Potential pathogenic variants were detected by trio-whole exome sequencing (Trio-WES). Candidate variant was validated with TA-cloning followed by Sanger sequencing. Mosaic variant was analyzed by ultra-deep sequencing (10,000-fold) and quantitative PCR. This study was approved by the Medical Ethics Committee of the West China Hospital of Sichuan University (Ethics No.: 2019-772 ). RESULTS: The proband had presented with congenital cataracts, mitosis, atrial and ventricular septal defects, dental abnormalities, and right radioulnar synostosis. His mother also exhibited congenital cataracts and dental anomalies, suggesting a diagnosis of OFCD. Trio-WES revealed an novel heterozygous 14-bp deletion (c.4724_4737del) in exon 12 of the BCOR gene in the proband. Deep sequencing identified a mosaic BCOR c.4724_4737del mutation in approximately 3.4% of peripheral leukocytes from his mother. Quantitative PCR analysis also confirmed the presence of this low-level mosaicism. The 14-bp deletion was predicted to cause a frame shift and premature termination (p.Met1575AsnfsTer6). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2+PP1). CONCLUSION Above findings have expanded the spectrum of BCOR mutations associated with OFCD, which highlighted the role of low-level mosaicism with maternal transmission and provided a basis for genetic counseling and reproductive guidance for the family.
Humans ; Male ; Repressor Proteins/genetics* ; Proto-Oncogene Proteins/genetics* ; Tooth Abnormalities/genetics* ; Eye Abnormalities/genetics* ; Microphthalmos/genetics* ; Child ; Sequence Deletion ; Female ; Cataract/congenital* ; Heart Septal Defects

INTRODUCTION: Antimicrobial resistance (AMR) poses a critical global health threat, with millions of deaths attributed to it annually. Antibiotic stewardship to combat AMR is the responsibility of all healthcare professionals. Despite evidence suggesting that it is unnecessary, dentists routinely prescribe prophylactic antibiotics following third molar (3M) surgeries. METHOD: This mixed-methods study examined the behavioural barriers influencing antibiotic prescribing practices within the Division of Oral and Maxillofacial Surgery at the National University Centre for Oral Health Singapore. This study used the capability, opportunity and motivation for behavioural change or COM-B framework to implement interventions targeting the behavioural barriers. RESULTS: Pre- and post-intervention data over 6 months showed a significant reduction in antibiotic prescriptions from 84.45% to 20.89%, following the implementation of COM-B strategies (P<0.001). Qualitative feedback from focus group discussions highlighted a positive shift in clinicians' attitudes towards antibiotic reduction, acknowledging the minimal infection risk associated with non-prescribing practices. Notably, complication rates remained stable throughout the study period, indicating no adverse effects from reduced antibiotic usage. CONCLUSION These findings demonstrated that the COM-B model can be successfully applied to modify deeply ingrained prescription habits, and underscored the effectiveness of a structured behavioural change intervention in enhancing compliance with antibiotic stewardship guidelines. The study advocates continuation of initiatives to sustain this positive trend and mitigate AMR in clinical practice.
Humans ; Molar, Third/surgery* ; Anti-Bacterial Agents/therapeutic use* ; Singapore ; Antimicrobial Stewardship/methods* ; Practice Patterns, Dentists'/statistics & numerical data* ; Antibiotic Prophylaxis ; Female ; Attitude of Health Personnel ; Male ; Tooth Extraction ; Adult ; Focus Groups ; Practice Patterns, Physicians'

BACKGROUND: Oral squamous cell carcinoma (OSCC) is a prevalent type of cancer with a high mortality rate in its late stages. One of the major challenges in OSCC treatment is the resistance to epidermal growth factor receptor (EGFR) inhibitors. Therefore, it is imperative to elucidate the mechanism underlying drug resistance and develop appropriate precision therapy strategies to enhance clinical efficacy. METHODS: To evaluate the efficacy of the combination of the Ca 2+ /calmodulin-dependent protein kinase II (CAMK2) inhibitor KN93 and EGFR inhibitors, we performed in vitro and in vivo experiments using two FAT atypical cadherin 1 ( FAT1 )-deficient (SCC9 and SCC25) and two FAT1 wild-type (SCC47 and HN12) OSCC cell lines. We assessed the effects of EGFR inhibitors (afatinib or cetuximab), KN93, or their combination on the malignant phenotype of OSCC in vivo and in vitro . The alterations in protein expression levels of members of the EGFR signaling pathway and SRY-box transcription factor 2 (SOX2) were analyzed. Changes in the yes-associated protein 1 (YAP1) protein were characterized. Moreover, we analyzed mitochondrial dysfunction. Besides, the effects of combination therapy on mitochondrial dynamics were also evaluated. RESULTS: OSCC with FAT1 mutations exhibited resistance to EGFR inhibitors treatment. The combination of KN93 and EGFR inhibitors significantly inhibited the proliferation, survival, and migration of FAT1 -mutated OSCC cells and suppressed tumor growth in vivo . Mechanistically, combination therapy enhanced the therapeutic sensitivity of FAT1 -mutated OSCC cells to EGFR inhibitors by modulating the EGFR pathway and downregulated tumor stemness-related proteins. Furthermore, combination therapy induced reactive oxygen species (ROS)-mediated mitochondrial dysfunction and disrupted mitochondrial dynamics, ultimately resulting in tumor suppression. CONCLUSION Combination therapy with EGFR inhibitors and KN93 could be a novel precision therapeutic strategy and a potential clinical solution for EGFR-resistant OSCC patients with FAT1 mutations.
Humans ; ErbB Receptors/metabolism* ; Mouth Neoplasms/metabolism* ; Cell Line, Tumor ; Animals ; Drug Resistance, Neoplasm/genetics* ; Cadherins/metabolism* ; Carcinoma, Squamous Cell/metabolism* ; Mice ; Mutation/genetics* ; Mice, Nude ; Protein Kinase Inhibitors/therapeutic use* ; Cetuximab/pharmacology* ; Afatinib/therapeutic use* ; Cell Proliferation/drug effects* ; Signal Transduction/drug effects*

BACKGROUND: The profile and clinical significance of the oral microbiome in patients with non-obstructive hypertrophic cardiomyopathy (noHCM) and obstructive hypertrophic cardiomyopathy (oHCM) remain unexplored. The objective of this study was to evaluate the difference of oral microbiome between noHCM and oHCM patients. METHODS: This cross-sectional study enrolled 18 noHCM patients and 26 oHCM patients from Fuwai Hospital, Chinese Academy of Medical Sciences between 2020 and 2021. Clinical and periodontal evaluations were conducted, and subgingival plaque samples were collected. Metagenomic sequencing and subsequent microbial composition and functional analyses were performed. RESULTS: Compared to oHCM patients, those with noHCM had higher systolic blood pressure (138.1 ± 18.8 mmHg vs . 124.2 ± 13.8 mmHg, P = 0.007), a larger body circumference (neck circumference: 39.2 ± 4.0 cm vs . 35.1 ± 3.7 cm, P = 0.001; waist circumference: 99.7 ± 10.5 cm vs . 92.2 ± 10.8 cm, P = 0.027; hip circumference: 102.5 ± 5.6 cm vs . 97.5 ± 9.1 cm, P = 0.030), a greater left ventricular end-diastolic diameter (46.6 ± 4.9 mm vs . 43.1 ± 4.9 mm, P = 0.026), and a lower left ventricular ejection fraction (64.1 ± 5.7 % vs . 68.5 ± 7.8%, P = 0.048). While overall biodiversity and general microbial composition were similar between the noHCM and oHCM groups, ten taxa displayed significant differences at the genus and species levels, with Porphyromonas gingivalis showing the highest abundance and greater enrichment in noHCM (relative abundance: 7.79535 vs . 4.87697, P = 0.043). Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis identified ten distinct pathways, with pathways related to energy and amino acid metabolism being enriched in oHCM patients, and those associated with genetic information processing less abundant in the oHCM group. Metabolic potential analysis revealed ten significantly altered metabolites primarily associated with amino sugar and nucleotide sugar metabolism, porphyrin metabolism, pentose and glucuronate interconversion, and lysine degradation. CONCLUSIONS The higher abundance of Porphyromonas gingivalis , which is known to impact cardiovascular health, in noHCM patients may partially account for clinical differences between the groups. Pathway enrichment and metabolic potential analyses suggest microbial functional shifts between noHCM and oHCM patients, potentially reflecting inherent metabolic changes in HCM.
Humans ; Cardiomyopathy, Hypertrophic/microbiology* ; Female ; Male ; Microbiota/genetics* ; Middle Aged ; Cross-Sectional Studies ; Adult ; Mouth/microbiology* ; Aged

OBJECTIVES

To report a case of triple primary malignant neoplasms in a 70-year-old woman diagnosed with follicular and papillary thyroid carcinoma and diffuse B-cell lymphoma of the right submandibular gland and cervical lymph nodes.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 70- year-old woman presented with a four-year history of gradually enlarging anterior neck mass, associated with a right submandibular mass and neck nodes for one year. The gradual progression of her symptoms made the patient think that it was a benign condition. This led to a delay in medical consultation. The patient underwent total thyroidectomy with functional neck dissection of the ipsilateral right neck. Histopathology revealed simultaneous follicular and papillary thyroid carcinoma, and diffuse B-cell lymphoma of the cervical lymph nodes. The patient was referred to medical oncology and nuclear medicine for further management.

CONCLUSION

Our patient was incidentally diagnosed with follicular and papillary thyroid carcinoma and diffuse B cell lymphoma of the cervical lymph nodes after surgery. Such triple primary malignant neoplasms in a single individual are rare, and as in our case, may only be diagnosed in hindsight.

Human ; Female ; Aged: 65-79 Yrs Old ; Carcinoma ; B-lymphocytes ; Adenocarcinoma, Follicular ; Neoplasms ; Submandibular Gland ; Lymph Nodes ; Lymphoma, B-cell ; Thyroid Gland ; Thyroid Cancer, Papillary ; Thyroidectomy

OBJECTIVE

To discuss a rare case of ectopic intranasal eruption of a tooth presenting as chronic rhinosinusitis focusing on the cause of the delayed diagnosis and emphasizing the role of otorhinolaryngologists in the management of this disease entity.

METHODS

Design: Case Report

Setting: Tertiary Government Training Hospital

Patient: One

RESULTS

A 25-year-old, partially edentulous woman initially presented with a four-year history of foul-smelling right nasal discharge accompanied by nasal congestion, nasal pain, and epistaxis. Several general physicians prescribed unrecalled antibiotics and pain medications which provided only temporary relief of the symptoms. Due to the persistence of the foul-smelling discharge which was recalcitrant to medications, culture and sensitivity testing at our institution revealed moderate growth of pseudomonas aeruginosa and computed tomography scans of the paranasal sinuses showed a right intranasal tooth, thickening of the inferior turbinate and septal deviation to the right. Following endoscopic removal of the intranasal tooth and septoplasty, there was resolution of symptoms and no complications.

CONCLUSION

Ectopic intranasal eruption of tooth has not yet been reported in the Philippines. Delays in diagnosing and starting proper management can lead to morbidity and serious complications such as development of antibiotic resistance. A high index of suspicion by an ENT-HNS physician with thorough nasal physical examination could have aided in the early diagnosis and management of the intranasal tooth.

Human ; Bacteria ; Female ; Adult: 25-44 Yrs Old ; Pseudomonas Aeruginosa ; Tooth

Objective:To explore the clinical manifestations of IgG4-related diseases（IgG4-RD） complicated with moderately differentiated adenosquamous carcinoma of the parotid gland, the diagnostic criteria for IgG4-related diseases and parotid malignant tumors, treatment regimens, and the application of fine-needle aspiration in disease diagnosis, so as to reduce clinical misdiagnosis and missed diagnosis. Methods:A retrospective analysis was conducted on the case data of a patient with IgG4-related diseases（IgG4-RD） complicated with moderately differentiated adenosquamous carcinoma of the parotid gland admitted to our department in March 2024. The clinical characteristics, imaging findings, preoperative puncture results, and postoperative pathological features were analyzed, and relevant literatures on both diseases were reviewed and summarized. Results:The elderly male patient was admitted due to "a mass in the parotid area in front of the right ear for more than 3 months". Through clinical examination, imaging examination, laboratory examination, and preoperative needle biopsy, the diagnosis of "right parotid moderately differentiated adenosquamous carcinoma complicated with IgG4-related disease" was considered. It was also considered that IgG4-related disease did not involve other organs before surgery, so no systemic hormone therapy was given before or after surgery. After surgery combined with postoperative radiotherapy, follow-up showed that neither the parotid tumor nor IgG4-related disease recurred. Conclusion:"IgG4-related disease complicated with moderately differentiated adenosquamous carcinoma"is a rare clinical disease. Both lack typical clinical manifestations and specific imaging features, and the diagnosis is mostly unclear before surgery. Pathological examination is of great significance in the diagnosis of the disease, while fine-needle aspiration has limited value in the diagnosis, which should attract the attention of clinicians. In addition, for patients with both diseases, individualized treatment plans should be formulated.
Humans ; Parotid Neoplasms/pathology* ; Male ; Carcinoma, Adenosquamous/pathology* ; Immunoglobulin G4-Related Disease/complications* ; Parotid Gland/pathology* ; Retrospective Studies ; Aged ; Biopsy, Fine-Needle ; Immunoglobulin G

Objective:To evaluate the feasibility and clinical efficacy of transoral endoscopic-assisted submandibular gland resection with low-temperature plasma knife technology, aiming to establish a scarless surgical approach to meet the patients aesthetic demands. Methods:A retrospective analysis was conducted on 5 consecutive patients with benign submandibular gland pathologies treated by a single surgical team between January 2021 and December 2023. All procedures employed a transoral mucosal incision in the floor of mouth, with 0-degree high-definition endoscope assistance and low-temperature plasma knife for precise dissection and hemostasis. Close postoperative follow-up was performed. A systematic literature review compared surgical approaches regarding critical anatomical landmarks, complication profiles, and scar formation. The clinical efficacy of this technique was summarized and analyzed. Results:Successful transoral endoscopic plasma knife resections were performed for benign submandibular conditions（including neoplasms, chronic sialadenitis, and sialolithiasis）. All operations were completed without conversion to open approach. No permanent lingual nerve or marginal mandibular nerve injuries occurred. Transient lingual hypoesthesia recovered within 2 weeks. During 6-12 months follow-up, there was no recurrence and absence of visible cervical scarring, with 100% patient satisfaction regarding cosmesis. Conclusion:Transoral endoscopic plasma knife resection of the submandibular gland demonstrates procedural safety and technical feasibility. This approach offers significant advantages in minimally invasive access, superior aesthetic outcomes, and accelerated recovery, representing a viable novel alternative for benign submandibular gland disease management.
Humans ; Submandibular Gland/surgery* ; Retrospective Studies ; Endoscopy/methods* ; Female ; Middle Aged ; Male ; Treatment Outcome ; Adult