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Fulltext A review on non-syndromic tooth agenesis associated with PAX9 mutations

Fauzi NH, Ardini YD, Zainuddin Z, Lestari W

Jpn Dent Sci Rev, 2018 Feb;54(1):30-36.
PMID: 29628999 DOI: 10.1016/j.jdsr.2017.08.001

Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identified as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia. Previous study using animal models reported that PAX9-deficient knockout mice exhibit missing molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and nonsense mutations are reported to be responsible; however, the most severe condition showed by the phenotype is caused by haploinsufficiency. This suggests that PAX9 is dosage-sensitive. Understanding the mechanism of genetic mutations will benefit clinicians and human geneticists in future alternative treatment investigations.
Validation study of AR Gynae endotrainer - a new mobile laparoscopic simulator

Omar AA, Zon EM, Ismail MP, Mahdi M, Ibrahim A, Engku-Husna EI, et al.

Med J Malaysia, 2023 Nov;78(6):711-716.
PMID: 38031211

INTRODUCTION: In gynaecology, laparoscopy is the choice of treatment for a lot of procedures as it is considered safe and effective. However, laparoscopic surgery requires skills that are different from those required for open surgery. In order to acquire the skills, a surgeon needs specific training. The aim of this study was to validate the AR Gynae endotrainer, a new mobile laparoscopic simulator, as a comparable box trainer for gynaecology laparoscopic training, comparing it with the well-established Karl Storz SZABO-BERCISACKIER laparoscopic trainer.
MATERIALS AND METHODS: A randomised prospective crossover study was designed to compare the AR Gynae endotrainer versus Karl Storz SZABO-BERCI-SACKIER laparoscopic trainer as a tool for training gynaecology laparoscopic skills. Participants were assigned to perform two specially designed tasks used for laparoscopic training using both endotrainers. All subjects evaluated both simulators concerning their performance by the use of a questionnaire comparing: design, ports placement, visibility, ergonomics, triangulation of movement, fulcrum effect, depth perception, ambidexterity, resources for training, and resources for teaching. The overall score was defined as the median value obtained. The ability and time taken for participants to complete the tasks using both endotrainers were also compared. A total of 26 participants were enrolled in this study, including 13 Masters's students from the Department of Obstetrics & Gynaecology and 13 Masters's students from the Department of Surgery, Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia.
RESULTS: A better performance was observed with AR Gynae as compared to Karl Storz endotrainer in five out of ten items evaluated in the questionnaire. Additionally, the overall score of AR Gynae endotrainer (median of 3.98) was comparable to that of Karl Storz endotrainer (median of 3.91) with p=0.519. For the items design and resources for teaching, the evaluation for AR Gynae endotrainer was significantly higher with p-values of 0.003 and 0.032, respectively. All participants were able to complete both tasks using both endotrainers. The time taken to complete both tasks was comparable on both endotrainers. Also, the AR Gynae endotrainer was cheaper.
CONCLUSIONS: The AR Gynae endotrainer was found to be a convenient and cost-effective laparoscopic simulator for gynaecology laparoscopic training and was comparable to the established Karl Storz SZABO-BERCI-SACKIER laparoscopic trainer.

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