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 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs. 19A PRDM12 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes. OBJECTIVES: To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES. METHODS: Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM12) containing 12 alanines (12A; normal), 18A (MiTES) and 19A (CIP), we examined PRDM12 aggregation and subcellular localization by image-separation confocal microscopy and subcellular fractionation Western blotting. RESULTS: MiTES presents in the first year of life; 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 the PRDM12 polyalanine tract shows that having 7-15 alanines is normal; 16-18 alanines is associated with MiTES; 19 alanines leads to CIP; and no clinically atypical cases of MiTES had a polyalanine tract expansion. PRDM12 aggregation and subcellular localization differed significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein-aggregation disease. CONCLUSIONS: 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 hypothesize that the developmental environment of the trigeminal ganglion is unique and critically sensitive to pre- and postnatal levels of PRDM12.

Midfacial toddler excoriation syndrome (MiTES) causes facial itching and scratching in babies during their first year of life. MiTES tends to improve over the time period of approximately 10 years, but it can leave scars. Congenital insensitivity to pain (CIP) is a condition where a person cannot feel pain and is present from birth. This study looked at two conditions: MiTES and CIP. We specifically investigated changes in a gene called PRDM12, focusing on a part of the gene called the polyalanine tract ­ a sequence of many alanines (alanine is a type of amino acid). We discovered that the normal range for this sequence is between 7 and 15 alanines. If there are 16 to 18 alanines, it is associated with MiTES and causes the PRDM12 protein to clump together inside the cell. However, if there are 19 alanines, it leads to CIP, and the PRDM12 protein clumps together and moves to the cytoplasm, where it should not be. We found new evidence to suggest that MiTES is a disease where proteins clump together. Overall, our study findings show that despite there only being a small change in the same gene, MiTES and CIP are very different conditions.

Simplified Sinus Floor Augmentation: An Economical Approach Using a Modified Balloon Technique.

Longstanding partial edentulism in the posterior segment of the maxilla is a challenging treatment and typically involves extensive and invasive sinus floor augmentation. Various methods have been employed for sinus floor elevation, including the application of hydraulic pressure using the balloon technique. This case report describes a modified ballooning technique to elevate the sinus floor using a Foley catheter to apply the hydraulic pressure method to elevate the Schneiderian membrane prior to the placement of bone grafts and an endosseous implant in a 37-year-old male patient who presented with an atrophic alveolar ridge height of 3.0 mm in the area of the extracted left first maxillary molar. Sinus floor elevation using the Foley catheter led to a sinus floor elevation of 7 mm and a gain in alveolar bone height of 7.8 mm. The patient was asymptomatic with a stable implant during the one-year follow-up period after prosthetic implant loading.

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.

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.

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.

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.

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.