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| http://dx.doi.org/10.7860/JCDR/2016/20010.8254 | DOI Listing |
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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Sci Rep
December 2024
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden.
Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.
View Article and Find Full Text PDFAssessment of Debris Apical Extrusion, Unprepared Surface Areas, and Dentinal Crack Formation after Root Canal Preparation Using ProTaper Next, ProTaper Ultimate, and R-Motion File Systems.
J Endod
November 2024
Department of Endodontics, Centre of Oral Clinical & Translational Sciences, Faculty of Dentistry, Oral & Craniofacial Sciences, Guy's Dental Hospital, King's College London, London, UK.
Introduction: This study evaluated and compared the amount of apically extruded debris, unprepared wall surface areas, and dentinal crack formation resulting from root canal preparation using ProTaper Next (PTN), ProTaper Ultimate (PTU), and R-Motion (RM) file systems.
Methods: Forty-five palatal roots of maxillary first molars were shortened to a uniform length of 12 mm. The samples were divided randomly into 3 groups (n = 15/group) to be prepared using either PTN, PTU, and RM file systems.
Clinical precision of Aoralscan 3 and Emerald S on the palatal and dentition areas: Evaluation for forensic applications.
J Dent
November 2024
Department of Restorative Dentistry and Endodontics, Semmelweis University, Budapest, Hungary.
Objectives: To compare the precision (repeatability and intermediate precision) of palatal and dentition scans taken with two different intraoral scanners.
Methods: The maxillary arch of 23 individuals was scanned three times using the Aoralscan 3 (Shining 3D) and Emerald S (Planmeca), resulting in 6 scans per individual. The scans were segmented in Meshmixer into palatal and dentition areas.
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Nat Commun
November 2024
Orthodontics, Department of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, 00014, Finland.
Article Synopsis
- In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European countries.
- A genome-wide association study revealed a specific single nucleotide polymorphism (rs570516915) strongly linked to CP in the Finnish population, showing significant statistical results and confirmed in other cohorts.
- The risk allele for rs570516915 disrupts a binding site for the IRF6 transcription factor, leading to decreased IRF6 expression, indicating that this genetic alteration may be a key factor in the mechanism causing CP.
A Realistic Ingeniously Designed Cleft Palate Simulator for Training of Residents: Bridging the Gap Between Theory and Practice.
Cleft Palate Craniofac J
October 2024
Burns & Plastic Surgery, All India Institute of Medical Sciences (AIIMS) Rishikesh, Uttarakhand, India.
Article Synopsis
- The article discusses a cost-effective cleft palate model designed to improve surgical training for residents, potentially improving patient outcomes.
- Constructed from materials like dental casts and acrylic resin, the model is inexpensive (250 INR) and quick to assemble (approximately 15 minutes).
- Residents rated the model highly, with scores indicating its realism and effectiveness as a training tool, suggesting it is a viable alternative to more complex training methods.
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