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Objective The etiology of non‐syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population. Subjects and methods Eight top nsCL/P‐associated PAX7 variants identified in our cleft genome‐wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively). In addition, mutation screening of the PAX7 protein‐coding region was conducted. Results Analysis of the pooled data from the GWAS and replication study confirmed that common PAX7 nucleotide variants are significantly associated with the increased risk of nsCL/P. The strongest individual variant was rs1339062 (c.586 + 15617T > C) with a p‐value = 2.47E−05 (OR = 1.4, 95%CI: 1.20–1.64). Sequencing analysis identified a novel synonymous PAX7 substitution (c.87G > A, p.Val29Val) in a single patient with nsCLP. This transition located in the early exonic position was predicted to disrupt potential splice enhancer elements. Conclusion Our study confirmed that PAX7 is a strong candidate gene for nsCL/P. Nucleotide variants of this gene contribute to the etiology of nsCL/P in the homogenous Polish population.

Although the aetiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) has been studied extensively, knowledge regarding the role of genetic factors in the pathogenesis of this common craniofacial anomaly is still limited. We conducted a follow-up association study to confirm that CDKAL1 nucleotide variants identified in our genome-wide association study (GWAS) for nsCL/P are associated with the risk of this anomaly. In addition, we performed a sequence analysis of the selected CDKAL1 exons. A mega-analysis of the pooled individual data from the GWAS and a replication study revealed that six out of thirteen CDKAL1 variants were positively replicated and reached the threshold of statistical significance (P < 3.85E-03). They represented a single association signal and were located within the fifth intron of CDKAL1. The strongest individual variant was rs9356746 with a P value = 5.71E-06 (odds ratio (OR) = 1.60, 95% confidence interval (CI): 1.30-1.97). Sequencing analysis did not reveal any pathogenic mutations of this gene. This study provides the first evidence that chromosomal region 6p22.3 is a novel susceptibility locus for nsCL/P. The location of the risk variants within the CDKAL1 intronic sequence containing enhancer elements predicted to regulate the SOX4 transcription may suggest that SOX4, rather than CDKAL1, is a potential candidate gene for this craniofacial anomaly.

(1) Background: Modern imaging methods and constantly developing technologies extend the range of diagnostic tools in medicine and in orthodontics. Thanks to them, scientists and doctors can use devices designed to diagnose 3D structures of the human body. The aim of the study was to assess the usefulness of digital orthodontic models as a diagnostic tool in the work of an orthodontist through a comparative analysis of the value of orthodontic measurements made on traditional plaster models and virtual models. (2) Methods: A total of 80 sets of models were made, including 40 sets of plaster models and 40 sets of digital models. A total of 48 diagnostic parameters were developed. They concerned dental parameters. (3) Results: Comparative analysis of crown height values on plaster and digital models showed statistically significant differences (p < 0.05) in 26 out of 48 dental parameters. (4) Conclusions: The differences between the measurements made with the software on the digital models and the measurements made with the traditional method of measurement using the digital caliper on the plaster models were small and clinically acceptable.

Acceptable speed of tooth movement in orthodontics is main limiting factor in treatment time. Although there are many devices and accessories which helps to move teeth – big forces in small period can cause complications like tooth resorption. The paper aimed to verify low-intensity pulsed ultrasound as method to accelerate orthodontic movement. A literature review from 2002-2020 using data bases like PubMed and Medline was performed. LIPUS orthodontics, LIPUS in dentistry, low-intensity pulsed ultrasound. 35 articles associated with the aim of this review were chosen and analyzed. Low-intensity pulsed ultrasounds start biological sequence on molecular level. Reactions on cellular structures accelerate bone healing and reduce negative effects and complications during treatment. Low-intensity pulsed ultrasounds have positive impact on bone wounds healing, treating developmental bone defects, cartilage and soft tissues reactions, tooth resorption, teeth tissue and periodontal regeneration and on orthodontic treatment acceleration.