A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In this study, we describe the clinical history of a 12-year-old child harboring a novel MBD5 rare variant and presenting psychomotor delay and seizures. To investigate the impact of MBD5 haploinsufficiency on neural primary cilia, we established a novel patient-derived cell line and used CRISPR-Cas9 technology to create an isogenic control. The patient-derived neural progenitor cells revealed a decrease in the length of primary cilia and in the total number of ciliated cells. This study paves the way to understanding the impact of MBD5 haploinsufficiency in brain development through its potential impact on neural primary cilia.

Cyclic fatigue resistance of three rotary file systems in a dynamic model after immersion in sodium hypochlorite.

To evaluate the effect of immersion in 3% sodium hypochlorite solution in the resistance to cyclic fatigue of three nickel-titanium (NiTi) rotary file systems, ProTaper Next (PTN), Hyflex CM (CM), and Hyflex EDM (EDM), in a mechanical model featuring axial movement. Ninety instruments of three different NiTi rotary file systems, PTN (size 25, 0.06 taper), CM (25, 0.06), and EDM (25/~, variable taper), were randomly divided according to a 3 × 3 factorial design and tested under dynamic immersion in a 3% NaOCl solution (1 or 5 min) or without immersion, making a total of 9 groups (n = 10). Files were tested in an artificial root canal with 45° angle and 5 mm radius apical curvature being submitted to back-and-forth movements until fracture. Statistical analysis was performed using two-way factorial ANOVA with Bonferroni post-hoc tests, at a significance level of 5%. Instruments were evaluated for reliability using a Weilbull approach. Regardless of the immersion treatment, PTN had on average 1200 ± 178 cycles to fracture, CM had 1949 ± 362, and EDM had 5573 ± 853, which was a significantly different (P < 0.01). The NaOCl immersion promoted a significant reduction in the mean number of cycles to fracture (P = 0.01), and was reflected in a significant reduction of the characteristic life of the instruments of the CM end EDM groups. Within this study conditions, EDM instruments performed better to cyclic fatigue followed by CM and then PTN. Immersion in NaOCl decreased the resistance to cyclic fatigue of all tested instruments, but affected more those manufactured from CM wire.

Repair versus Replacement of Defective Direct Dental Restorations: A Multinational Cross-sectional Study with Meta-Analysis.

OBJECTIVES: When dental practitioners encounter a defective restoration, they are faced with a crucial decision whether to repair or replace it. This study aims to explore international preferences for repair procedures and the clinical steps taken during the repair process. METHOD: An 11-question survey was distributed to dentists across 21 countries via different platforms. The survey comprised two sections: the first included five questions aimed at gathering demographic information, while the second consisted of six questions focusing on participants' practices related to the repair of composite or amalgam restorations A meta-analysis was employed to ascertain the pooled odds ratio of repairing versus replacement. The statistical analysis was carried out using the RevMan 5.3 program and forest plots were generated using the same program to visualize the results. RESULTS: The survey was completed by 3680 dental practitioners. The results indicated a strong tendency to repair defective composite restorations (OR: 14.23; 95% CI: 7.40, 27.35, p<0.001). In terms of amalgam, there was a significant tendency to replace the restorations (OR: 0.19; 95% CI: 0.12, 0.30, p<0.001). When repairing restorations, the most common protocols were etching with orthophosphoric acid and creating an enamel bevel, regardless of the restorative material used. CONCLUSION: The findings of this study indicate that there exists a knowledge gap among dental practitioners regarding restoration repair. It is imperative that dental practitioners receive proper education and training on restoration repair, to ensure the usage of adequate protocols and restoration survival.

Evaluation of the Interfaces between Restorative and Regenerative Biomaterials Used in Vital Pulp Therapy.

BACKGROUND: Calcium-silicate-based cements (CSC) have gained an increasing scientific and clinical relevance, enabling more conservative approaches, namely pulp preservation and regeneration therapies. This research aims to study the influence of four clinical variables on the interfaces between CSC and composite adhesive restoration, concerning shear bond strength (SBS) and ultra-morphological patterns. METHODS: SBS tests were performed in 320 specimens divided in 16 groups (n = 20) according to: two CSC (NuSmile® NeoMTA, BiodentineTM); two adhesive systems (ClearfilTM SE Bond 2 (CSEB2), ClearfilTM Universal Bond Quick (CUBQ)); optional application of an additional hydrophobic bonding layer (HBL); two restoration times (immediate, seven days). Scanning electron microscopy (SEM) was performed to conduct the ultra-morphology interface analysis in 32 deciduous molars prepared and randomly allocated into the 16 groups. RESULTS: Globally, SBS tests showed higher bond strength of CUBQ compared to CSEB2 (p < 0.001), as with an additional HBL application (p = 0.014) and delayed restoration (p < 0.001). SEM showed the interpenetration between adhesive systems and CSC forming a hybrid layer, whose depth and thickness depended on the restoration time and adhesive strategy. CONCLUSIONS: The independent clinical variables adhesive system, application of an additional HBL and restoration time affected the bond performance and ultra-morphological interface between composite adhesive restoration and CSC.