Introduction: Skeletal abnormalities and malocclusions have varied features that impact populations globally, impairing aesthetics and lowering life quality. The prevalence of the Skeletal Class III disease is the lowest among all angle malocclusions, with varied prevalence across nations. Environmental, genetic, and societal factors play a role in its numerous etiologies. In this study, we conducted a thorough search across the published data relating to quantitative trait loci (QTL) and the genes associated with Class III progression in humans, discussed these findings and their limitations, and proposed future directions and strategies for studying this phenotype. Methods: An inclusive search of published papers in the PubMed and Google Scholar search engines using the following terms: 1. Human skeletal Class III; 2. Genetics of Human skeletal Class III; 3. QTL mapping and gene associated with human skeletal Class III; 4. enriched skeletal Class-III-malocclusion-associated pathways. Results: Our search has found 53 genes linked with skeletal Class III malocclusion reported in humans, genes associated with epigenetics and phenomena, and the top 20 enriched pathways associated with skeletal Class III malocclusion. Conclusions: The human investigations yielded some contentious conclusions. We conducted a genome-wide association study (GWAS), an epigenetics-wide association study (EWAS), RNA-seq analysis, integrating GWAS and expression quantitative trait loci (eQTL), micro- and small-RNA, and long non-coding RNA analysis in tissues connected to skeletal Class III malocclusion phenotype in tissues connected with the skeletal phenotype. Finally, we invite regional, national, and international orthodontists and surgeons to join this effort by contributing human samples with skeletal Class III malocclusion following the accepted Helsinki ethical protocol to challenge these phenomena jointly.
Background: The chronic rhinosinusitis patient-reported outcome (CRS-PRO) is a newly developed, disease-specific questionnaire designed for patients with CRS. This study focused on translating the CRS-PRO into Arabic, conducting cross-cultural adaptation and validation of the questionnaire, and assessing its reliability and validity. Methods: This prospective study involved 112 patients divided into CRS, functional endoscopic sinus surgery (FESS), and control groups. Participants completed the questionnaire at enrollment and again after one month. The Arabic version of the CRS-PRO was created following the International Society for Pharmacoeconomics and Outcomes Research guidelines for translation and cross-cultural adaptation. Results: This study included 74 males (66.1%) and 38 females (33.9%), with an average age of 37.4 ± 14.8 years. The Arabic CRS-PRO questionnaire has high internal consistency and reliability (Cronbach’s alpha 0.97). It also has strong discriminant validity in distinguishing between groups (ANOVA, p < 0.001). The assessment of test/retest symptom scores and their consistency over time confirmed the reliability of the CRS-PRO in differentiating CRS patients from healthy individuals and in monitoring surgical outcomes. This was validated through Pearson’s correlation coefficients (p < 0.01) and intraclass correlation (p < 0.0001). Conclusions: The Arabic version of the CRS-PRO proved simple, reliable, and valid. It showed high internal consistency, reliability, and strong discriminant validity in distinguishing between healthy individuals, CRS patients, and those pre- and post-FESS.
18 July 2022 in Journal of Speech, Language, and Hearing Research
Purpose: The aim of this study was to assess the frequency and types of compensatory articulations (CAs) in nonsyndromic patients with velopharyngeal dysfunction (VPD) and various palatal anomalies and to determine the relationship between the frequency of CAs, type of palatal anomaly, and phonological errors.Method: A total of 783 nonsyndromic, Hebrew-speaking patients with VPD and various palatal anomalies (cleft lip and palate [CLP], cleft palate [CP], submucous CP [SMCP], occult submucous CP [OSMCP], or non-CP) were studied retrospectively. Perceptual VPD tests, including articulation and phonological assessment, were conducted. CAs were described as below the level of the defect in the vocal tract (abnormal backing of oral targets to post-uvular place) or in front of it within the oral cavity (palatalization) and at the velopharyngeal port.Results: Among 783 patients, 213 (27.2%) had CAs. Most CAs (18.4%) occurred below the level of the defect, followed by CAs at the velopharyngeal port (12.0%) or in front of it (4.9%). No differences were found in the frequency of CAs between patients with CP (47.8%) or CLP (52.6%) and between those with non-CP (13.6%) or OSMCP (14.7%). SMCP patients had lower frequency of CAs (29.8%) than CP (p = .003) and CLP (p = .002) patients but higher frequency than OSMCP (p = .002) and non-CP (p = .002) patients did. Among the 783 patients, 247 (31.5%) had phonological errors. A higher frequency of phonological errors was found in patients with CAs (55.4%) compared to those without (22.6%) and in all palatal anomaly groups except CLP (31.4% vs. 23.9%).Conclusions: CAs in nonsyndromic patients with VPD remained relatively high in all age groups, up to adulthood. CAs are influenced by inadequate velar length following palatal repair, as well as by oral structural abnormalities, whereas poor muscle function due to OSMCP and/or abnormal size and/or shape of nasopharynx has less influence. Errors produced in front of the velopharyngeal port are influenced by the structural anomaly of CLP. This information may contribute to general phonetic and phonological theories and genetic investigations about CP anomalies.
1 November 2020 in International Journal of Pediatric Otorhinolaryngology