Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes. METHODS: We assessed the genotype and phenotype of 9 new, 9 atypical, and 6 previously reported patients diagnosed with MiTES. Using cell lines with homozygous PRDM12 of 12A (normal), 18A (MiTES) and 19A (CIP) we examined PRDM12 aggregation and subcellular localisation by image separation confocal microscopy and sub-cellular fractionation western blotting. RESULTS: MiTES presents in the first year of life, and in all cases the condition regresses over the first decade leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12-CIP are rarely found. The genotype-phenotype study of PRDM12 polyalanine tract shows that 7A -15A are normal; 16A -18A are associated with MiTES; 19A leads to CIP; and no clinically atypical MiTES cases had an expansion. PRDM12 aggregation and sub-cellular localisation differ significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein aggregation disease. CONCLUSION: We provide diagnostic criteria for MiTES, and improved longitudinal data. MiTES and CIP are distinct phenotypes despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells.. We hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.

Knowledge, Attitude and Perception Regarding Artificial Intelligence in Periodontology: A Questionnaire Study.

INTRODUCTION: The utilization of artificial intelligence (AI) and machine learning (ML) models has brought about a significant transformation in the manner in which periodontists gather information, evaluate associated risks, develop diverse treatment alternatives, anticipate and diagnose dental conditions that compromise periodontal health. The principal objective of this prospective study was to examine periodontists' understanding and acceptance of the application of AI in the realm of periodontology. MATERIALS AND METHODS: This observational study was conducted on 275 participants based on questionnaire using Google Forms. These forms were pre-validated and subsequently circulated among periodontists in Maharashtra via various social media platforms. The study, in its entirety, comprised four open-ended questions on participants' demographics and 14 closed-ended questions, all of which were presented to the participants in English. These questions aimed to elicit participants' awareness, knowledge, attitudes, and perspectives regarding emerging applications of AI in the field of periodontology. To analyze the collected data, researchers employed the widely utilized Statistical Package for Social Sciences (SPSS) version 22.0. RESULT: A 75% response rate was achieved and 68% of the respondents were female. 62% periodontists were aware of AI; however, only 24% were aware of its working principles. Most respondents agreed with the use of AI in periodontal diagnosis; however, they disagreed with the use of AI in predicting clinical attachment loss (69%). 80-82% respondents felt that AI should be a part of postgraduate training and should be implemented in clinical practice. However, most periodontists do not use AI for diagnostic or research purposes. 49% periodontists felt that AI does not have better diagnostic accuracy than periodontists, and therefore cannot replace them in the future. CONCLUSION: Most periodontists possessed a reasonable level of understanding regarding the utilization of AI in the domain of periodontology and expressed a desire to incorporate it into their diagnostic and treatment planning processes for periodontal conditions. Additional endeavors must be undertaken to enhance periodontists' awareness concerning the effective implementation of AI within their professional practice, with the aim of facilitating personalized treatment planning for their respective patients. It is postulated that the integration of AI will augment the likelihood of achieving favorable outcomes within the realm of periodontology.

Efficacy of Different Root Canal Irrigating Solutions in Removing Smear Layer: A Scanning Electron Microscopic Study.

Background The aim of the present investigation was to evaluate and compare the efficacy of frequently used chemical agents in terms of their capacity to eliminate the smear layer after instrumentation, as observed via scanning electron microscopy (SEM). Materials and methods Sixty extracted single-rooted mandibular premolar teeth, each with roots 15 mm in length, were used in this study. The teeth were divided into one control group and four study groups, each containing 12 teeth. In Control Group 0, teeth were irrigated with 3 ml of saline only. In Group 1, teeth were irrigated initially with 3% sodium hypochlorite (NaOCl) and then given a final rinse with 3 ml of 17% ethylenediaminetetraacetic acid (EDTA) for one minute. In Group 2, teeth were irrigated with 3% NaOCl and given a final rinse with 3 ml of a mixture of tetracycline, acid, and detergent (MTAD, BIOPURE) for one minute. In Group 3, teeth were irrigated with saline and given a final rinse with 3 ml of 17% EDTA for one minute. In Group 4, teeth were irrigated with saline and given a final rinse with 3 ml of MTAD for one minute. One-half of each tooth was chosen and prepared for scanning electron microscopic (SEM) examination at the cervical, middle, and apical thirds. These were observed at magnifications of up to 1,000 times to check for the presence or absence of a smear layer. The data were analyzed using the Kruskal-Wallis test and post-hoc Dunn's test. Results All of the root canal irrigation protocols exhibited superior efficacy compared to the control group in the elimination of the smear layer. Group 2 (3% NaOCl with MTAD) showed the lowest mean scores, compared to all the groups, followed by Group 1 (3% NaOCl with 17% EDTA). MTAD was more effective than EDTA. The smear layer was effectively removed from the apical third, followed by the middle and coronal thirds of the root. Conclusion Initial irrigation with 3% NaOCl and one-minute final irrigation with 3 ml MTAD was the most effective root irrigant, and particularly indicated in teeth with infection of the apical third.

A Curious Case of Hybrid Ameloblastoma.

Ameloblastoma is one of the most prevalent odontogenic tumors of epithelial origin, with several histological variations. However, among these variants, 'hybrid ameloblastoma' is infrequent and anomalous. The current case study demonstrates the existence of hybrid ameloblastoma in a 27-year-old female patient, which included desmoplastic, follicular, and acanthomatous patterns. The right side of the mandible was affected by tumor growth, with extensive bone involvement and neural invasion, resulting in a loss of sensation on that side. Although the tumor grows at a gradual pace, its enigmatic manifestation highlights the significance of a meticulous diagnosis. The course of treatment involved comprehensive resection of the tumor segment, followed by the recommended reconstructive surgery during the postoperative follow-up period.

Oral Leiomyoma in a Pediatric Patient: A Diagnostic Challenge.

A nodular lesion of the tongue incorporates a spectrum of entities from reactive to malignancy. A diagnostic dilemma arises when a nodular, solitary, and firm submucosal mass appears in the oral cavity of a patient. To reach a definitive diagnosis, a crucial investigation protocol needs to be followed. Leiomyomas are benign tumors that rarely occur in the oral cavity. They usually affect patients within the fourth to fifth decades of life. We report a rare case of leiomyoma of the tongue in a 12-year-old child patient. Immunohistochemical analysis revealed the positivity of tumor cells for alpha-smooth muscle actin (SMA). Surgical excision of such lesions is the treatment of choice, with a low recurrence rate. Our patient was asymptomatic and tumor-free at the follow-up visit after two years.

Evaluation of LAMP-based assays for carbapenemase genes.

Purpose. Rapid and accurate detection of carbapenem resistance is a critical requirement for the selection of appropriate therapy and initiation of infection control measures. Although several tests are available, their use is limited by one or more factors. Phenotypic tests are lengthy, have variable sensitivity and specificity and do not generally identify the carbapenemase. Molecular assays overcome many of these issues but cost can be a barrier to adoption, particularly in low-resource settings. To address the need for affordable, molecular tools, we have assessed the performance characteristics of loop-mediated isothermal amplification (LAMP)-based assays for the major carbapenemase genes, blaNDM, blaKPC, blaOXA-48, blaOXA-23 blaVIM and blaIMP.Methodology. The assays were validated using 1849 Gram-negative Indian clinical isolates obtained from seven hospitals and diagnostic centres.Results. The assays had diagnostic sensitivities of 98.14 %, 98.92 %, 100 %, 98.48 %, and diagnostic specificities of 98.94 %, 99.61 %, 97.42 %, 99.38 % for blaNDM, blaOXA-48, blaOXA-23 and blaVIM, respectively. Due to a low number of isolates positive for blaKPC and blaIMP, the performance characteristics of assays for these two genes could not be suitably evaluated.Conclusion. The performance characteristics suggest suitability for diagnostic and surveillance purposes.