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The Canary Islands inhabitants, a recently admixed population with significant North African genetic influence, has the highest incidence of childhood-onset type 1 diabetes (T1D) in Spain and one of the highest in Europe. HLA accounts for half of the genetic risk of T1D., Aims: To characterize the classical HLA-DRB1 and HLA-DQB1 alleles in children from Gran Canaria with and without T1D., Methods: We analyzed classic HLA-DRB1 and HLA-DQB1 alleles in childhood-onset T1D patients (n = 309) and control children without T1D (n = 222) from the island of Gran Canaria. We also analyzed the presence or absence of aspartic acid at position 57 in the HLA-DQB1 gene and arginine at position 52 in the HLA-DQA1 gene. Genotyping of classical HLA-DQB1 and HLA-DRB1 alleles was performed at two-digit resolution using Luminex technology. The chi-square test (or Fisher's exact test) and odds ratio (OR) were computed to assess differences in allele and genotype frequencies between patients and controls. Logistic regression analysis was also used., Results: Mean age at diagnosis of T1D was 7.4 ± 3.6 years (46% female). Mean age of the controls was 7.6 ± 1.1 years (55% female). DRB1*03 (OR = 4.2; p = 2.13 -13 ), DRB1*04 (OR = 6.6; p ≤ 2.00 -16 ), DRB1* 07 (OR = 0.37; p = 9.73 -06 ), DRB1*11 (OR = 0.17; p = 6.72 -09 ), DRB1*12, DRB1*13 (OR = 0.38; p = 1.21 -05 ), DRB1*14 (OR = 0.0; p = 0.0024), DRB1*15 (OR = 0.13; p = 7.78 -07 ) and DRB1*16 (OR = 0.21; p = 0.003) exhibited significant differences in frequency between groups. Among the DQB1* alleles, DQB1*02 (OR: 2.3; p = 5.13 -06 ), DQB1*03 (OR = 1.7; p = 1.89 -03 ), DQB1*05 (OR = 0.64; p = 0.027) and DQB1*06 (OR = 0.19; p = 6.25 -14 ) exhibited significant differences. A total of 58% of the studied HLA-DQB1 genes in our control population lacked aspartic acid at position 57., Conclusions: In this population, the overall distributions of the HLA-DRB1 and HLA-DQB1 alleles are similar to those in other European populations. However, the frequency of the non-Asp-57 HLA-DQB1 molecules is greater than that in other populations with a lower incidence of T1D. Based on genetic, historical and epidemiological data, we propose that a common genetic background might help explain the elevated pediatric T1D incidence in the Canary Islands, North-Africa and middle eastern countries., (© 2024. The Author(s).)

Background: The aim of the study was to analyze and compare external root resorption (ERR) in patients treated with tooth-borne (TB) and bone-borne (BB) rapid maxillary expansion (RME)., Methods: The sample included 40 subjects who received tooth-borne RME (TB group, average age: 13.1 ± 1.08 years) or bone-borne RME (BB group, average age: 14.5 ± 1.11 years) and Cone-beam computed tomography (CBCT) scans before treatment (T0) and after 3-month of retention (T1). A specific 3D Imaging technology was used to generate 3D models of posterior dentition (M1 = maxillary first molars, P2 = second premolars, P1 = first premolar) and calculate volumetric data (mean and percentage values) and shape changes, the latter obtained from deviation analysis between the radicular models at different time points. Evaluation of radicular length changes was performed for each tooth. Data were statistically analysed to perform intra-timing and inter-groups comparisons., Results: A significant reduction of radicular volume and length was found in posterior dentition in both groups (p < 0.05), and the M1 (volume) and its palatal root (length) were mostly involved in this response. No differences were found between M1, P1 and P2 (p > 0.05) when volumetric changes were calculated as percentage of the total volume. Deviation analysis revealed that the radicular areas mostly affected by shape change were the apex and bucco-medial side. The amount of ERR was significantly greater in TB group compared to BB group., Conclusions: BB-RME treatment could reduce the amount of ERR at the post-expansion stage., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: White spot lesions (WSLs) are a formidable challenge during orthodontic treatment, affecting patients regardless of oral hygiene. Multifactorial in nature, amongst potential contributors to their development are the microbiome and salivary pH. The aim of our pilot study is to determine if pre-treatment differences in salivary Stephan curve kinetics and salivary microbiome features correlate with WSL development in orthodontic patients with fixed appliances. We hypothesize that non-oral hygiene determined differences in saliva could be predictive of WSL formation in this patient population through analysis of salivary Stephan curve kinetics, and that these differences would further manifest as changes in the oral microbiome., Methods: In this prospective cohort study, twenty patients with initial simplified oral hygiene index scores of "good" that were planning to undergo orthodontic treatment with self-ligating fixed appliances for at least 12 months were enrolled. At pre-treatment stage, saliva was collected for microbiome analysis, and at 15-minute intervals after a sucrose rinse over 45 min for Stephan curve kinetics., Results: 50% of patients developed a mean 5.7 (SEM: 1.2) WSLs. There were no differences in saliva microbiome species richness, Shannon alpha diversity or beta diversity between the groups. Capnocytophaga sputigena exclusively and Prevotella melaninogenica predominantly were found in WSL patients, while Streptococcus australis was negatively correlated with WSL development. Streptococcus mitis and Streptococcus anginosus were primarily present in healthy patients. There was no evidence to support the primary hypothesis., Conclusions: While there were no differences in salivary pH or restitution kinetics following a sucrose challenge and no global microbial differences in WSL developers, our data showed change in salivary pH at 5 min associated with an abundance of acid-producing bacteria in saliva. The results suggest salivary pH modulation as a management strategy to inhibit the abundance of caries initiators. Our study may have uncovered the earliest predecessors to WSL/caries development., (© 2023. The Author(s).)

Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases., Methods: We report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded., Results: No gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P = 1.1 × 10 -4 ) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR = 3.70[95%CI 1.3-8.2], P = 2.1 × 10 -4 ). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR = 19.65[95%CI 2.1-2635.4], P = 3.4 × 10 -3 ), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR = 4.40[9%CI 2.3-8.4], P = 7.7 × 10 -8 ). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD] = 43.3 [20.3] years) than the other patients (56.0 [17.3] years; P = 1.68 × 10 -5 )., Conclusions: Rare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old., (© 2023. The Author(s).)

Background: The exploration of tridimensional (3D) technology of computational tomography and the development of valid 3D printed models may improve the assessment of adenoid obstruction. The identification of an enlarged adenoid in childhood would streamline the referral of appropriately selected cases to an otolaryngologist, leading to early treatment of affected children when indicated. The objective of this study is to validate the use of a 3D printed model depicting adenoid hypertrophy based on the pediatric otolaryngologist, head and neck surgeon (OHNS) participants assessment., Methods: A cross-sectional study was performed to develop and validate 3D depictions, including print-outs, of the nasopharynx including different degrees of Adenoidal Hypertrophy (AH). The print-outs were obtained from 14 Cone-beam computed tomography (CBCT) scans of 14 children (12 boys, 2 girls; mean age of 10.61 years) representing grades 1, 2, 3, and 4 nasopharyngeal adenoidal obstructions, according to a previously Nasoendoscopy-graded (NE) classification by a licensed OHNS. The prevalence of AH in this study was 36%. Two OHNS were recruited to assess the print-outs representing two different representations of the nasopharyngeal airway, the lumen (LU) and adenoid mass (AD). LU and AD were visualized in 2D - pictures- and in 3D - printed prototypes. Intraclass correlation was used to assess intra- and inter-reliability. The validity of our depictions was analyzed through comparison (accuracy and correlation) to the reference standard (NE). The data were clustered to calculate the sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV). Cross-tab and Pearson's T-test were performed., Results: Overall, the 3D depiction tools showed different diagnostic capabilities. AD representations showed strong (AD 2D, 75%) to almost perfect (AD 3D, 88%) accuracy compared to NE. Excellent sensitivity and specificity were observed for the AD 3D (100, 70%), as well as adequate PPV and NPV (66 and 97% respectively), with only 5% of false-negative cases., Conclusion: The use of Dolphin software for the acquisition of a 3D printed prototype of the nasopharyngeal adenoidal region seems promising. These prototypes may be a practical and readily available alternative for the assessment of the nasopharyngeal obstructed area. CBCT in children must be taken under strong solid indications. Early referral to an OHNS for a full assessment remains the main objective in children with unclear symptoms.

Introduction: Cone-Beam Computed Tomography (CBCT) images can be superimposed, allowing three-dimensional (3D) evaluation of craniofacial growth/treatment effects. Limitations of 3D superimposition techniques are related to imaging quality, software/hardware performance, reference areas chosen, and landmark points/volumes identification errors. The aims of this research are to determine/compare the intra-rater reliability generated by three 3D superimposition methods using CBCT images, and compare the changes observed in treated cases by these methods., Methods: Thirty-six growing individuals (11-14 years old) were selected from patients that received orthodontic treatment. Before and after treatment (average 24 months apart) CBCTs were analyzed using three superimposition methods. The superimposed scans with the two voxel-based methods were used to construct surface models and quantify differences using SlicerCMF software, while distances in the landmark-derived method were calculated using Excel. 3D linear measurements of the models superimposed with each method were then compared., Results: Repeated measurements with each method separately presented good to excellent intraclass correlation coefficient (ICC ≥ 0.825). ICC values were the lowest when comparing the landmark-based method and both voxel-based methods. Moderate to excellent agreement was observed when comparing the voxel-based methods against each other. The landmark-based method generated the highest measurement error., Conclusions: Findings indicate good to excellent intra-examiner reliability of the three 3D superimposition methods when assessed individually. However, when assessing reliability among the three methods, ICC demonstrated less powerful agreement. The measurements with two of the three methods (CMFreg/Slicer and Dolphin) showed similar mean differences; however, the accuracy of the results could not be determined.

Background: The Oxford Nanopore Technologies (ONT) MinION portable sequencer makes it possible to use cutting-edge genomic technologies in the field and the academic classroom., Results: We present NanoDJ, a Jupyter notebook integration of tools for simplified manipulation and assembly of DNA sequences produced by ONT devices. It integrates basecalling, read trimming and quality control, simulation and plotting routines with a variety of widely used aligners and assemblers, including procedures for hybrid assembly., Conclusions: With the use of Jupyter-facilitated access to self-explanatory contents of applications and the interactive visualization of results, as well as by its distribution into a Docker software container, NanoDJ is aimed to simplify and make more reproducible ONT DNA sequence analysis. The NanoDJ package code, documentation and installation instructions are freely available at https://github.com/genomicsITER/NanoDJ .

Background: Recent methodologic evidence suggests that lack of blinding in randomized trials can result in under- or overestimation of the treatment effect size. The objective of this study is to quantify the extent of bias associated with blinding in randomized controlled trials of oral health interventions., Methods: We selected all oral health meta-analyses that included a minimum of five randomized controlled trials. We extracted data, in duplicate, related to nine blinding-related criteria, namely: patient blinding, assessor blinding, care-provider blinding, investigator blinding, statistician blinding, blinding of both patients and assessors, study described as "double blind", blinding of patients, assessors, and care providers concurrently, and the appropriateness of blinding. We quantified the impact of bias associated with blinding on the magnitude of effect size using a two-level meta-meta-analytic approach with a random effects model to allow for intra- and inter-meta-analysis heterogeneity., Results: We identified 540 randomized controlled trials, included in 64 meta-analyses, analyzing data from 137,957 patients. We identified significantly larger treatment effect size estimates in trials that had inadequate patient blinding (difference in treatment effect size = 0.12; 95% CI: 0.00 to 0.23), lack of blinding of both patients and assessors (difference = 0.19; 95% CI: 0.06 to 0.32), and lack of blinding of patients, assessors, and care-providers concurrently (difference = 0.14; 95% CI: 0.03 to 0.25). In contrast, assessor blinding (difference = 0.06; 95% CI: -0.06 to 0.18), caregiver blinding (difference = 0.02; 95% CI: -0.04 to 0.09), principal-investigator blinding (difference = - 0.02; 95% CI: -0.10 to 0.06), describing a trial as "double-blind" (difference = 0.09; 95% CI: -0.05 to 0.22), and lack of an appropriate method of blinding (difference = 0.06; 95% CI: -0.06 to 0.18) were not associated with over- or underestimated treatment effect size., Conclusions: We found significant differences in treatment effect size estimates between oral health trials based on lack of patient and assessor blinding. Treatment effect size estimates were 0.19 and 0.14 larger in trials with lack of blinding of both patients and assessors and blinding of patients, assessors, and care-providers concurrently. No significant differences were identified in other blinding criteria. Investigators of oral health systematic reviews should perform sensitivity analyses based on the adequacy of blinding in included trials.

Introduction: A reliable method to assess midpalatal suture maturation to drive clinical decision-making, towards non-surgical or surgical expansion, in adolescent and young adult patients is needed. The objectives were to systematically review and evaluate what is known regarding contemporary methodologies capable of assessing midpalatal suture maturation in humans., Methods: A computerized database search was conducted using Medline, PubMed, Embase and Scopus to search the literature up until October 5, 2016. A supplemental hand search was completed of references from retrieved articles that met the final inclusion criteria., Results: Twenty-nine abstracts met the initial inclusion criteria. Following assessment of full articles, only five met the final inclusion criteria. The number of subjects involved and quality of studies varied, ranging from an in-vitro study using autopsy material to prospective studies with in vivo human patients. Three types of evaluations were identified: quantitative, semi-quantitative and qualitative evaluations. Four of the five studies utilized computed tomography (CT), while the remaining study utilized non-invasive ultrasonography (US). No methodology was validated against a histological-based reference standard., Conclusions: Weak limited evidence exists to support the newest technologies and proposed methodologies to assess midpalatal suture maturation. Due to the lack of reference standard validation, it is advised that clinicians still use a multitude of diagnostic criteria to subjectively assess palatal suture maturation and drive clinical decision-making.

Objective: To perform a systematic review of measurement tools utilized for the diagnosis of nasal septal deviation (NSD)., Methods: Electronic database searches were performed using MEDLINE (from 1966 to second week of August 2013), EMBASE (from 1966 to second week of August 2013), Web of Science (from 1945 to second week of August 2013) and all Evidence Based Medicine Reviews Files (EBMR); Cochrane Database of Systematic Review (CDSR), Cochrane Central Register of Controlled Trials (CCTR), Cochrane Methodology Register (CMR), Database of Abstracts of Reviews of Effects (DARE), American College of Physicians Journal Club (ACP Journal Club), Health Technology Assessments (HTA), NHS Economic Evaluation Database (NHSEED) till the second quarter of 2013. The search terms used in database searches were 'nasal septum', 'deviation', 'diagnosis', 'nose deformities' and 'nose malformation'. The studies were reviewed using the updated Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool., Results: Online searches resulted in 23 abstracts after removal of duplicates that resulted from overlap of studies between the electronic databases. An additional 15 abstracts were excluded due to lack of relevance. A total of 8 studies were systematically reviewed., Conclusions: Diagnostic modalities such as acoustic rhinometry, rhinomanometry and nasal spectral sound analysis may be useful in identifying NSD in anterior region of the nasal cavity, but these tests in isolation are of limited utility. Compared to anterior rhinoscopy, nasal endoscopy, and imaging the above mentioned index tests lack sensitivity and specificity in identifying the presence, location, and severity of NSD.

Background: To determine the prevalence, intensity and extent of the Oral Impacts on Daily Performances associated with self-perceived malocclusion among Peruvian schoolchildren., Methods: Eight hundred and five children aged 11 to 12 years attending 4 of 7 randomly selected schools linked to a Health Centre in Lima, Peru, participated in the study. The Spanish (Peru)Child-OIDP was used to assess the prevalence, intensity and extent of oral impacts on 8 daily performances (eating, speaking, teeth cleaning, sleeping, smiling, studying, emotion and social contact). Self-perceived malocclusion included complaints about position of teeth, spacing of teeth and deformity of mouth or face. The prevalence of oral impacts was compared by covariables using the Chi-square test, whereas the intensity and extent of oral impacts were compared by covariables through the Mann-Whitney test., Results: Only 15.5% of children reported impacts associated with self-perceived malocclusion during the last 3 months. Of them, 18.4% reported impacts of severe or very severe intensity and 76.0% reported impacts on only one daily performance. Psychosocial activities such as smiling, emotion and social contact were the most frequently and severely impacted everyday activities., Conclusion: Impacts of self-perceived malocclusion primarily affected psychological and social everyday activities. These findings provide further evidence to support the importance of psychological and social components of oral health on children's lives.

Background: Previous studies on orthodontic treatment need in young adults have shown that up to 50% had malocclusions that needed orthodontic treatment. The aims of this study were to assess the normative and self-perceived need for orthodontic treatment using the Index of Orthodontic Treatment Need (IOTN) and to determine if the treatment need levels were influenced by sex, age and socio-economic status (SES) in a sample of Peruvian young adults., Methods: 281 first-year students (157 male and 124 female students) with a mean age of 18.1 +/- 1.6 years were randomly selected and evaluated through the Dental Health Component (DHC) and Aesthetic Component (AC) of the IOTN. Structured interview and clinical examination were used to assess the students. Descriptive statistics and Chi-square tests were used for data analysis with statistical significance set at P < 0.05., Results: An intra-examiner reliability of 0.89 was obtained (weighted Kappa). The percentage of students according to SES was 51.2%, 40.6% and 8.2% corresponding to low, medium and high SES respectively. The percentage of students with DHC grades 4-5 was 29.9% whereas the percentage of students with AC grades 8-10 was 1.8%. There were no significant differences in the distribution of normative and self-perceived orthodontic treatment need based on sex, age and SES comparisons., Conclusion: Normative orthodontic treatment need was not matched by a similar level of self-perceived treatment need in these young adults. Sex, age and SES were non-significant factors associated with levels of treatment need.

Background: World-wide phylogeographic distribution of human complete mitochondrial DNA sequences suggested a West Asian origin for the autochthonous North African lineage U6. We report here a more detailed analysis of this lineage, unraveling successive expansions that affected not only Africa but neighboring regions such as the Near East, the Iberian Peninsula and the Canary Islands., Results: Divergence times, geographic origin and expansions of the U6 mitochondrial DNA clade, have been deduced from the analysis of 14 complete U6 sequences, and 56 different haplotypes, characterized by hypervariable segment sequences and RFLPs., Conclusions: The most probable origin of the proto-U6 lineage was the Near East. Around 30,000 years ago it spread to North Africa where it represents a signature of regional continuity. Subgroup U6a reflects the first African expansion from the Maghrib returning to the east in Paleolithic times. Derivative clade U6a1 signals a posterior movement from East Africa back to the Maghrib and the Near East. This migration coincides with the probable Afroasiatic linguistic expansion. U6b and U6c clades, restricted to West Africa, had more localized expansions. U6b probably reached the Iberian Peninsula during the Capsian diffusion in North Africa. Two autochthonous derivatives of these clades (U6b1 and U6c1) indicate the arrival of North African settlers to the Canarian Archipelago in prehistoric times, most probably due to the Saharan desiccation. The absence of these Canarian lineages nowadays in Africa suggests important demographic movements in the western area of this Continent.