Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

The discovery that Rett syndrome is caused by mutations in the MECP2 gene has provided a major breakthrough in our understanding of the disorder. However, despite this, there is still limited understanding of the underlying pathophysiology of the disorder hampering the development of curative treatments. Over the years, a number of animal models have been developed contributing to our knowledge of the role of MECP2 in development and improving our understanding of how subtle expression levels affect brain morphology and function. Transcriptomic and proteomic studies of animal models are useful in identifying perturbations in functional pathways and providing avenues for novel areas of research into disease. This review focuses on published transcriptomic and proteomic studies of mouse models of Rett syndrome with the aim of providing a summary of all the studies, the reported dysregulated genes and functional pathways that are found to be perturbed. The 36 articles identified highlighted a number of dysfunctional pathways as well as perturbed biological networks and cellular functions including synaptic dysfunction and neuronal transmission, inflammation, and mitochondrial dysfunction. These data reveal biological insights that contribute to the disease process which may be targeted to investigate curative treatments.

A retrospective study on the prognostic factors and success, survival, and failure outcomes of treated endodontic-periodontal lesions.

OBJECTIVES: The objective of this retrospective study was to determine possible prognostic factors of endodontic-periodontal lesions and to compare success, survival, and failure outcomes of treated endodontic-periodontal lesions across different treatment modalities, demographic variables, and anatomical tooth variations. MATERIALS AND METHODS: Data was collected from patient records in the patient management system (Salud, Titanium Solutions) from the Griffith University Dental Clinic between January 2008 and December 2021. The search strategy used the terms "endodontic periodontal lesion," "periodontal endodontic lesion," "endo perio lesion," "perio endo lesion," and "EPL." The 88 cases which met inclusion and exclusion criteria were analyzed. RESULTS: The overall success rate was 46.6%, with 21.6% of teeth surviving and 31.8% of teeth failing. Bone loss extending to the apical third (OR = 0.3, 95% CI [0.104, 0.866]), and probing depths of 5-7 mm (OR = 0.147, 95% CI [0.034, 0.633]) and 8-10 mm (OR = 0.126, 95% CI [0.029, 0.542]) were associated with a statistically significant lower odds of success (p < .05). A history of no periodontal disease (OR = 7.705, 95% CI [1.603, 37.037]) was associated with a statistically significant higher odds of success (p < .05). CONCLUSION: Practitioners should be aware of bone loss to the apical third, deep probing depths, and a history of periodontal disease as possible prognostic factors that can affect the success rate when treating endodontic-periodontal lesions. Further research with more stringent control over operator factors should be done to investigate these variables.