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Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition of childhood. Temporomandibular joint (TMJ) is among the most commonly affected joints in JIA patients. When JIA involves the TMJ, it may affect condylar growth in the joint; therefore, JIA patients are at risk of unfavourable long‐term outcomes from associated joint damage. If undetected, TMJ involvement can lead to various functional disabilities such as reduced mandibular mobility and disorders of the mastication muscles. Limitations in sagittal and vertical mandibular growth can result in micrognathia and anterior open bite with aesthetic and functional restrictions. Objective: Genetic factors may play a role in determining which individuals are more prone to develop TMJ disorders or in predicting the severity of the disease process. Therefore, we applied a GWAS approach to identify loci associated with TMJ involvement in a sample of Estonian patients with JIA. Our aim was to address the potential role of genetic susceptibility factors in TMJ‐JIA, a condition not previously studied in this context. Methods: The case group consisted of 55 JIA patients with TMJ involvement and 208 patients without TMJ involvement comprised the control group. The entire cohort was genotyped using the Illumina HumanOmniExpress BeadChip arrays. Imputation was performed using a nationwide reference panel obtained of 2240 individuals whose data were obtained from the Estonian Biobank. Results: We identified six loci as being associated with the risk of TMJ‐JIA in Estonian JIA patients. The strongest associations were identified at CD6 rs3019551 (P = 3.80 × 10−6), SLC26A8/MAPK14 rs9470191 (P = 6.15 × 10−6), NLRP3 rs2056795 (P = 8.91 × 10−6) and MAP2K4 rs7225328 (P = 1.64 × 10−5). Conclusion: This study provides first insights into the risk‐associated loci between JIA and its manifestation in the TMJ. The reported loci are involved in molecular pathways of immunological relevance and likely represent genomic regions that render the TMJ susceptible to involvement by JIA in Estonian patients. [ABSTRACT FROM AUTHOR]

Orofacial myofunctional disorders (OMD) and sleep-disordered breathing (SDB) may present as comorbidities. Orofacial characteristics might serve as a clinical marker of SDB, allowing early identification and management of OMD and improving treatment outcomes for sleep disorders. The study aims to characterize OMD in children with SDB symptoms and to investigate possible relationships between the presence of various components of OMD and symptoms of SDB. A cross-sectional study of healthy children aged 6-8 from primary schools was conducted in central Vietnam in 2019. SDB symptoms were collected using the parental Pediatric Sleep Questionnaire, Snoring Severity Scale, Epworth Daytime Sleepiness Scale, and lip-taping nasal breathing assessment. Orofacial myofunctional evaluation included assessment of tongue mobility, as well as of lip and tongue strength using the Iowa Oral Performance Instrument, and of orofacial characteristics by the protocol of Orofacial Myofunctional Evaluation with Scores. Statistical analysis was used to investigate the relationship between OMD components and SDB symptoms. 487 healthy children were evaluated, of whom 46.2% were female. There were 7.6% of children at high risk of SDB. Children with habitual snoring (10.3%) had an increased incidence of restricted tongue mobility and decreased lip and tongue strength. Abnormal breathing patterns (22.4%) demonstrated lower posterior tongue mobility and lower muscle strength. Daytime sleepiness symptoms were associated with changes in muscle strength, facial appearance, and impaired orofacial function. Lower strengths of lip and tongue or improper nasal breathing were more likely to be present in children with reported sleep apnea (6.6%). Neurobehavioral symptoms of inattention and hyperactivity were linked to anomalous appearance/posture, increases in tongue mobility and oral strength. This study demonstrates a prevalence of orofacial myofunctional anomalies in children exhibiting SDB symptoms. Children with prominent SDB symptoms should be considered as candidates for further orofacial myofunctional assessment., Competing Interests: The authors declare no conflict of interest., (©2023 The Author(s). Published by MRE Press.)

Background and Objective: According to Klassen et al. (2012), the overall quality of life of CL/P children is most affected by appearance and quality of speech, as these differences are most noticeable to others. To what extent changes in craniofacial growth have an impact on speech quality has yet to be clarified. Therefore, we aimed to determine which cephalometric parameters differed between healthy and cleft palate groups., Material and Methods: 17 healthy and 11 children born with CL/P were included. We conducted a cross-sectional and comparative study. A combination of objective and subjective assessment methods was performed: nasalance scores were calculated, and lateral cephalograms were evaluated by indirect digitization using Dolphin Imaging Software., Results: The analysis showed differences in the length of the hard (PNS-A) and soft palate (PNS-P), and in the width of the lower oropharyngeal airway (AW5-AW6). The mean length of the hard palate was 3.7 mm and the soft palate 3.0 mm shorter in the CL/P group compared to the healthy group. Hypernasal resonance was related to (1) the length of the hard palate, (2) the distance between the hyoid bone from the third cervical vertebra, and (3) the angle formed by the NA line and the NB line (ANB). Only 11 CL/P children met the inclusion criteria. Thus, the results may have been affected by the small sample size. The Control group consisted of children who visited ENT doctors or orthodontists., Conclusion: The results showed differences in cephalometric parameters in the two groups. Still, we continue to collect data and plan to conduct the analysis on larger and more homogenous sample size.

Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition of childhood. Genetic association studies have revealed several JIA susceptibility loci with the strongest effect size observed in the human leukocyte antigen (HLA) region. Genome-wide association studies have augmented the number of JIA-associated loci, particularly for non-HLA genes. The aim of this study was to identify new associations at non-HLA loci predisposing to the risk of JIA development in Estonian patients., Methods: We performed genome-wide association analyses in an entire JIA case-control sample (All-JIA) and in a case-control sample for oligoarticular JIA, the most prevalent JIA subtype. The entire cohort was genotyped using the Illumina HumanOmniExpress BeadChip arrays. After imputation, 16,583,468 variants were analyzed in 263 cases and 6956 controls., Results: We demonstrated nominal evidence of association for 12 novel non-HLA loci not previously implicated in JIA predisposition. We replicated known JIA associations in CLEC16A and VCTN1 regions in the oligoarticular JIA sample. The strongest associations in the All-JIA analysis were identified at PRKG1 (P = 2,54 × 10 -6 ), LTBP1 (P = 9,45 × 10 -6 ), and ELMO1 (P = 1,05 × 10 -5 ). In the oligoarticular JIA analysis, the strongest associations were identified at NFIA (P = 5,05 × 10 -6 ), LTBP1 (P = 9,95 × 10 -6 ), MX1 (P = 1,65 × 10 -5 ), and CD200R1 (P = 2,59 × 10 -5 )., Conclusion: This study increases the number of known JIA risk loci and provides additional evidence for the existence of overlapping genetic risk loci between JIA and other autoimmune diseases, particularly rheumatoid arthritis. The reported loci are involved in molecular pathways of immunological relevance and likely represent genomic regions that confer susceptibility to JIA in Estonian patients. Key Points • Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease with heterogeneous presentation and genetic predisposition. • Present genome-wide association study for Estonian JIA patients is first of its kind in Northern and Northeastern Europe. • The results of the present study increase the knowledge about JIA risk loci replicating some previously described associations, so adding weight to their relevance and describing novel loci. • The study provides additional evidence for the existence of overlapping genetic risk loci between JIA and other autoimmune diseases, particularly rheumatoid arthritis., (© 2021. The Author(s).)

Most children born with cleft palate (CP) or cleft lip and palate (CL/P) have velopharyngeal insufficiency (VPI), some degree of hypernasal resonance, articulation disorders and laryngeal dysphonia. Combination of different CL/P specific problems may mask laryngeal dysphonia and therefore, it may remain undiagnosed and untreated by clinicians. The research aimed to study the effect of VPI on voice quality in Estonian CL/P children. We included 18 CL/P and 79 healthy children. Combination of objective (Multi-Dimensional Voice Program (MDVP)) and subjective (Pediatric Voice Handicap Index (pVHI), GRBAS scale, video-nasoendoscopy (VNE), video-laryngostroboscopy (VLS)) assessment methods were assisted and performed by our multidisciplinary cleft teams. We found that (1) overall quality of life is greatly affected by voice, resonance and articulation disorders in CL/P group, (2) more than half of the CL/P children had morphological changes of the vocal folds, (3) the severity of VPI did not result in worse outcomes of acoustic parameters of voice.

Objective: The study aimed to obtain nasalance scores for Vietnamese-speaking patients with repaired cleft palate with or without cleft lip., Methods: A total of 29 children with cleft palate with or without cleft lip (4-18 years old, mean age 7.9±3.5 years old) were included in this study. Speech material was designed specifically for the Vietnamese language. The speech material consisted of oral stimuli (19 oral words and 18 oral sentences), oro-nasal stimuli (eight sentences), and nasal stimuli (seven sentences). The patients repeated the stimuli after the examiner. The Nasometer II (model 6450) was used to compute nasalance scores., Results: The mean nasalance scores were 27.1% for oral stimuli, 40.2% for oro-nasal stimuli, and 57.5% for nasal stimuli. Hypernasality was detected in 41.4% of the patients., Conclusion: Vietnamese-speaking patients with repaired cleft palate with or without cleft lip who did not undergo speech therapy had poor speech outcomes.

Objective: The Nasometer is increasingly being used to complement auditory perceptual assessment of nasality. Nasalance scores which are obtained from the Nasometer vary across languages. Normative nasalance scores have been established for many languages but not for the Vietnamese language. The objective of this study was to obtain the normative nasalance scores for Vietnamese-speaking children., Participants: In this study, 102 healthy Vietnamese children speaking in the central regional dialect aged from 7 to 9 years (45 boys, 57 girls; mean age = 7.5 years) at a primary school in Hue, Vietnam participated., Procedures: Three speech stimuli, which were specific for the Vietnamese language, were designed: oral stimuli (19 words and 18 sentences), oro-nasal stimuli (eight sentences) and nasal stimuli (seven sentences). The children were asked to repeat these stimuli after the examiner. The Nasometer II (model 6450) was used to obtain the nasalance scores. The procedure took about 10 minutes for each child., Results: The mean nasalance scores and the standard deviation of each stimulus were: 13.1 ± 5.8 (oral stimuli), 30.7 ± 6.6 (oro-nasal stimuli) and 56.9 ± 9.2 (nasal stimuli). No significant differences between the genders were found., Conclusions: The normative nasalance scores provide essential reference information for clinicians who deal with nasalance disorders, especially patients with cleft palate. The nasalance scores in this study were established for Vietnamese children speaking in the central regional dialect and can be applied to both genders.

Patients with repaired cleft lip and/or palate may vary in satisfaction with their treatment. The exploratory study investigated the satisfaction of patients with orofacial clefts, and their parents with cleft treatment outcomes using the Cleft Hearing, Appearance and Speech Questionnaire (CHASQ). The study included 29 Vietnamese and 27 Estonian patients aged ≥ 7 years with repaired cleft lip and/or palate. The CHASQ was translated into Vietnamese and Estonian. The questionnaire was completed independently by patients and their parents. There were nine items in the CHASQ associated with the cleft (Factor 1) and six items less associated with the cleft (Factor 2). Significant moderate positive correlations were related to Factor 1. Vietnamese patients self-rated lower than Estonian patients in most of the items except speech. The agreement between patients and parents varied from low to moderate positive correlations in the features associated with the cleft, and mainly in the Vietnam sample. Vietnamese patients were less satisfied than Estonian patients. CHASQ is an easy tool to evaluate patients' satisfaction with hearing, appearance, and speech.

Purpose: To determine the oral hygiene habits, levels of dental caries, and periodontal condition of patients with repaired cleft lip and/or palate (CL/P) in Central Vietnam., Materials and Methods: A total of 78 patients (1-54 years old; median: 6 years) with CL/P were examined for dental caries, gingivitis and periodontitis using the decayed, missing, and filled teeth (dmft/DMFT) index, gingival bleeding on probing and periodontal pocket depth. Data about dental visits, brushing habits and socioeconomic status were collected., Results: A majority of patients brushed their teeth at least once a day with fluoride dentifrice but did not floss. The caries prevalence was 87.2%. The dmft of patients aged ≤ 5 years and 6-12 years were 7.4 and 9.0. The DMFT of patients aged 6-12 years, and ≥ 13 years were 1.6, and 6.7; the difference was statistically significant (p < 0.05). The percentages of patients who had bleeding on probing and had periodontal pocket depth 3.5-5.5 mm were 57.7% and 5.3%, respectively., Conclusions: Patients with repaired CL/P in Central Vietnam had a very high level of caries and had signs of gingivitis but not periodontitis. It is recommended to implement dental care in the treatment protocol for patients with CL/P.

Objective: The aim of study was to determine the association between signs of temporomandibular disorders (TMD), occlusal support, and alterations in the craniofacial structure of elderly Vietnamese by using cephalometric analysis., Methods: The cross-sectional study consisted of 244 participants aged 65-74 years. Participants were examined for signs of TMD, including limited mouth opening, temporomandibular joint (TMJ) crepitus, TMJ tenderness, and muscle tenderness. Dentition was divided into four occlusal support zones based on occluding pairs of posterior teeth by using Eichner's classification: Class A = 4 support zones; Class B = 1-3 support zones or only contact in anterior teeth; Class C = 0 support zones. Fifteen angular and seven linear parameters were used for sagittal craniofacial skeleton analysis., Results: 10.3% of participants had limited mouth opening, 49.6% TMJ crepitus, 16.3% TMJ tenderness, and 24.2% muscle tenderness; 45.5% had Class A occlusal support, 38.5% Class B, and 16.0% Class C. Those with Class C had significantly smaller ramus inclination, articular angle, and angles formed by the mandibular plane and shorter facial height compared to Class A and Class B ( P  < .001). TMD signs were significantly associated with: angles formed by mandibular plane, gonial angle, cranial base angle, effective mandibular length, and anterior facial height ( P  < .05)., Conclusions: The alteration of craniofacial structures was significantly associated with TMD signs among elderly Vietnamese. The higher number of lost occlusal support zones, the more significant the changes to craniofacial structures., Competing Interests: Compliance with Ethical StandardsNone of the authors have a conflict of interest to declare.

Objectives: The study aimed to compare nasolabial aesthetics of patients with unilateral cleft lip and palate (UCLP) treated in Vietnam and Estonia using three rating methods: five-point aesthetic index, a visual analogue scale (VAS), and reference scores method., Methods: A total of 56 patients with repaired UCLP (23 from Vietnam and 33 from Estonia) were included in this cross-sectional study. Patients' facial and profile photographs were cropped to reveal the nasolabial region and coded. Five examiners rated nasolabial aesthetics of the patients using three methods: five-point aesthetic index, 100 mm VAS, and reference scores method. Intraclass correlation coefficients were used to evaluate intrarater and interrater reliabilities., Results: The five-point aesthetic index had a higher reliability than VAS and reference scores method. The least aesthetic feature among Vietnamese and Estonian patients was nasal symmetry and nasolabial profile respectively. No differences in nasolabial aesthetics were found between Vietnamese and Estonian patients regardless of the rating methods (p > 0.05) except for nasal symmetry., Conclusions: The five-point aesthetic index seems to produce more reproducible results. There were no significant differences in nasolabial aesthetics between the two countries. Overall average nasolabial appearance results were obtained using different treatment protocols in the two countries., (Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Purpose: To describe oral health behaviours and problems among elderly Vietnamese as well as determine their prevalence of caries and periodontal disease., Materials and Methods: This cross-sectional study examined 258 elderly persons aged 65-74 years living in Danang, Vietnam. All subjects self-reported oral health behaviour and problems. Dental caries was assessed using the DMFT index. Periodontal status was evaluated with the modified Community Periodontal Index, whereby all teeth were examined for gingival bleeding and periodontal pocket depth (PPD), and the index teeth were assessed for clinical attachment loss (CAL)., Results: 48.4% of the elderly brushed their teeth at least twice a day; 34% had never visited a dentist; 27.8% often had difficulty chewing foods. Of the sample, mean DMFT was 14.3 ± 8.7 (DT = 6.4 ± 5.5, MT = 7.7 ± 7.1, and FT = 0.2 ± 0.9), 88.8% had untreated caries, 21.0% had at least one tooth with a PPD ≥ 6 mm, and 49.8% had at least one sextant with CAL ≥ 6 mm. The mean number of teeth per person was 22.0, of which 19.5 teeth (88.6%) had gingival bleeding, 7.7 teeth (37.1%) with a PPD 4-5 mm, and 0.8 teeth (5.0%) with a PPD ≥ 6 mm. The mean number of sextants with CAL 4-5 mm and CAL ≥ 6 mm were 2.5 ± 2.0 and 1.3 ± 1.7, respectively. Rural residence was found to be negatively associated with MT, FT, and healthy periodontal status (p < 0.05)., Conclusions: Dental diseases are prevalent among elderly Vietnamese owing to a lack of awareness of oral health self-care behaviours, especially among those living in rural areas. This suggests that an oral health care programme is required to improve the oral health status of elderly Vietnamese.

Normative nasalance scores are essential for the treatment and assessment purposes for clinicians. Till date, no studies have been done on nasalance in Estonia. This research was conducted to develop Estonia-specific optimized speech stimuli for Nasometer II and establish the normative nasalance scores. Ninety-two randomly selected healthy and 14 cleft palate Estonian monolingual children, aged four to seven years, were included as participants. Estonian language-specific test material was developed. The Estonian test material consisted of 24 speech stimuli. Based on the phoneme content, the stimuli were divided into three groups: (1) sentences that included oral and nasal phonemes and targeted the same phoneme distribution as in spontaneous speech, (2) sentences that included only oral phonemes and (3) sentences that were loaded with nasal phonemes. Nasometer II software was used to calculate the nasalance scores for each child and each sentence. Results indicated that there were significant differences in nasalance scores for oronasal and oral stimuli scores, and no significant differences were found in nasal stimuli scores between the study and control group. The threshold for oronasal stimuli was 42.1-18.9, oral stimuli was 27.9-3.9 and nasal stimuli was 69.4-46.2. In conclusion, Estonia-specific optimized speech stimuli were developed and normative nasalance scores were established. These normative scores can be used for the diagnosis and follow-up treatment of patients with resonance disorders, especially for patients with cleft palate.

Purpose: The aim of this study was to analyze the associations between missing teeth, occlusal support, and temporomandibular disorders (TMD) among elderly Vietnamese., Materials and Methods: The study consisted of 145 TMD and 112 non-TMD (control group) participants aged 65 to 74 years. TMD was evaluated using Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) Axis I. An occlusal unit (OU) was defined as the cusp of a tooth coupled with the fossa of its antagonist tooth. A premolar pair was counted as one OU and a molar pair as two OUs. Dentition was divided into four occlusal support zones (OSZs) based on occluding pairs of posterior teeth by using Eichner classification: Class A had 4 OSZs, Class B had 1 to 3 OSZs or only anterior teeth, and Class C had no OSZ., Results: The TMD group lost significantly more posterior teeth (mean ± SD 5.1 ± 4.7) than the control group (4.0 ± 3.9, P = .033). The mean ± SD OUs of the TMD and control groups were 5.1 ± 4.6 and 6.0 ± 4.3, respectively, which was nonsignificant (NS). The distribution of Class A (40.7%), Class B (40.0%), and Class C (19.3%) among the TMD group was not significantly different from the control group (50.0%, 38.4%, and 11.6%, respectively, NS). The odds of having TMD were positively associated with total unilateral loss of OUs (OR = 3.4, 95% CI = 1.2-9.4, P = .020) and total bilateral loss of OUs (OR = 2.7, 95% CI = 1.2-6.6, P = .027)., Conclusion: Total loss of OSZs on one or both sides of the mouth were found to be predictors of TMD among elderly Vietnamese.

The aim of the study was to (a) analyse dental occlusion and determine the need for orthodontic treatment of persons with osteogenesis imperfecta (OI) in comparison with the healthy population and (b) investigate the associations between OI and malocclusion. A case-control study included 26 OI persons and 400 healthy participants (control group). Occlusal features and the need for orthodontic treatment were defined according to Dental Health Component-Index of Orthodontic Treatment Need and Dental Aesthetic Index. Results showed that Angle Class I, II, and III relationship was found in 23.1%, 3.8%, and 73.1% of OI group, and in the control group, it was 67%, 17.5%, and 15.5%, respectively. OI group had significantly higher prevalence of reverse overjet >1 mm (76.9%), missing teeth (42.3%), posterior crossbite (34.6%), and open bite >2 mm (19.2%) compared to the control group (8.5%, 2.2%, 6.2%, and 3.5%, respectively). OI group had less incisal segment crowding and more incisal segment spacing than the control group ( p  < 0.05). The need for orthodontic treatment of OI group according to Dental Health Component-Index of Orthodontic Treatment Need and Dental Aesthetic Index was 88.5% and 61.5%, respectively, while in the control group, it was 24.8% and 51.8%. The malocclusion in OI persons was associated with reverse overjet > 1 mm (OR = 13.3, 95% CI = 3.9-44.7, p  < .001), Angle Class III malocclusion (OR = 8.0, 95% CI = 2.0-30.8, p  = .003), and missing teeth (OR = 4.7, 95% CI = 1.0-22.4, p  = .049). In conclusion, there is the high probability of malocclusion in OI persons. Persons with OI require early orthodontic treatment because of significant correlation of OI disease with Angle Class III malocclusion, reverse overjet, and missing teeth.

Juvenile idiopathic arthritis is the most common chronic rheumatic condition during childhood. Temporomandibular joint arthritis is frequently asymptomatic. When it takes place during childhood, it may affect condylar growth; therefore, these children are at risk of unfavorable long-term outcomes from the associated joint damage. The etiology is not completely understood, but it is considered as multifactorial with both genetic and environmental factors involved. The standardized examination and imaging protocols serve important purpose to diagnose temporomandibular joint (TMJ) arthritis not only to establish an early interventional strategy but also to assess craniofacial growth and the progression of signs and symptoms in those patients. Although the treatment of juvenile idiopathic arthritis (JIA) has changed dramatically over the last decades due to new therapeutic options, TMJ arthritis still can develop during the course of the disease. In clinical experience, TMJs appear to respond less well to the standard of care used to treat other joints. More individualized approach to the patient's treatment serves as the main goal of personalized medicine. It could be achieved by adopting new methods of medical imaging such as conebeam computer tomography as well as developing reliable biomarkers which may assist with predicting disease type, course, or severity and predicting response to medication. This article provides an overview of current information on orofacial complications in JIA and its management. Based on information provided in this review, more precise diagnosis, proper tools for recognizing people at risk, and more efficient treatment approaches could be implemented. This may lead to more personalized treatment management strategies of TMJ complications of JIA patients.

Objective of the current study was to evaluate proportions of frontal facial soft-tissues of Vietnamese females correspond to the golden proportion (GP)., Material and Methods: Sixty frontal facial photographs of Vietnamese female students aged 19 years were selected. The selected participants had symmetrical face, a Class I relationship occlusion, complete lip closure, and no history of trauma and orthodontic treatment. The photographic record was set-up with a white backdrop, fill light, a reflector, a camera Canon 650D and subjects were asked to sit in a standard position. Trichion (TR), Temporal soft tissue (TS), Lateral canthus (LC), Lateral nasal (LN), Chilion (CH), and Menton (ME) point were used for photometric measurements on CorelDRAW Graphic X3 software., Results: The vertical facial proportions (mean, percentage compared with GP) were significantly higher than the GP including: LC-CH:CH-ME (1.661, 102%), LN-ME:LC-LN (1.729, 106%), TR-ME:LC-ME (1.739, 107%), TR-LN:LN-ME (1.759, 108%). Whereas TR-ME:LN-ME; CH-ME:LN-CH; LC-LN:LN-CH had ratios of 84% - 92% and were significantly smaller in comparison with GP. The horizontal facial proportions of CHR-L:LNR-L, LCR-L:CHR-L and TSR-L:LCR-L deviated from the GP with mean values of 1.221, 1.922 and 1.229, respectively. The new mean values of TR-ME:LC-ME (1.733), TR-LN:LN-ME (1.732), LC-ME:TR-LC (1.374), CH-ME:LN-CH (1.524), which were predictable changes in proportions, can be significantly converged to the GP if LC-CH:CH-ME is equal to the GP., Conclusions: Soft-tissue facial proportions of Vietnamese females did not correspond to the GP. Changing the lower third face may create harmony vertical facial proportions.

Background: Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common complex birth defect caused by the interaction between multiple genes and environmental factors., Methods: Five hundred and eighty-seven single nucleotide polymorphisms in 40 candidate genes related to orofacial clefting were tested for association with CL/P in a clefting sample composed of 300 patients and 606 controls from Estonian, Latvian, and Lithuanian populations., Results: In case-control comparisons, the minor alleles of FGF1 rs34010 (p = 4.56 × 10(-4) ), WNT9B rs4968282 (p = 0.0013), and FOXE1 rs7860144 (p = 0.0021) were associated with a decreased risk of CL/P. Multiple haplotypes in FGF1, FOXE1, and TIMP2 and haplotypes in WNT9B, PVRL2, and LHX8 were associated with CL/P. The strongest association was found for protective haplotype rs250092/rs34010 GT in the FGF1 gene (p = 5.01 × 10(-4) ). The strongest epistatic interaction was observed between the COL2A1 and WNT3 genes., Conclusions: Our results provide for the first time evidence implicating FGF1 in the occurrence of CL/P, and support TIMP2 and WNT9B as novel loci predisposing to CL/P. We have also replicated recently reported significant associations between variants in or near FOXE1 and CL/P. It is likely that variation in FOXE1, TIMP2, and the FGF and Wnt signaling pathway genes confers susceptibility to nonsyndromic CL/P in Northeastern European populations., (Copyright © 2011 Wiley-Liss, Inc.)

Background: Orofacial clefts are among the most common birth defects with a strong genetic component. Nonsyndromic cleft palate (NSCP) is a complex malformation determined by the interaction between multiple genes and environmental risk factors., Methods: We conducted a case-control association study to investigate the role of 40 candidate genes in predisposition to orofacial clefting. Five hundred ninety-one haplotype tagging single nucleotide polymorphism (tagSNPs) were genotyped in a clefting sample from the Baltic region, composed of 104 patients with nonsyndromic cleft palate and 606 controls from an Estonian, Latvian, and Lithuanian population., Results: In case-control comparisons, the minor alleles of IRF6 rs17389541 (p = 5.45 × 10(-4)) and COL2A1 rs1793949 (p = 7.26 × 10(-4)) were associated with increased risk of NSCP. Multiple haplotypes in COL2A1 and COL11A2 and haplotypes in WNT3, FGFR1, and CLPTM1were associated with NSCP. The strongest associations were found for IRF6 haplotype rs17389541/rs9430018 GT (p = 2.23 × 10(-4)) and COL2A1 haplotype rs12822608/rs6823 GC (p = 3.68 × 10(-4)). The strongest epistatic interactions were observed between MSX1 and BMP2, FGF1 and PVRL2, and COL2A1 and FGF2 genes., Conclusions: This study provides for the first time evidence of the implication of IRF6, COL2A1, and WNT3 in the occurrence of NSCP. It is likely that variation in cartilage collagen II and XI genes, IRF6, and the Wnt and FGF signaling pathway genes contributes susceptibility to nonsyndromic cleft palate in Northeastern European populations., (© 2010 Wiley-Liss, Inc.)

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. Recently, two novel susceptibility loci and three suggestive loci for NSCL/P were identified by a genome-wide association scan (GWAS) in a German population with subsequent independent replication in a mixed European population. The aim of the present study was to investigate whether these newly detected loci confer similar effects in the North-East European Baltic population. A total of 101 NSCL/P patients and 254 controls from Estonia were included. A significant association was observed for rs7078160 (P = 0.0016) at chromosome 10q25, which confirms the association of this locus with NSCL/P in the Baltic population. No significant association was found for the other four loci, a result that may have been attributable to the limited power of the sample.

Recent studies suggest that multiple interacting loci, with possible additional environmental factors, influence the risk for nonsyndromic oral clefts, one of the most common birth defects in humans. Advances in high-throughput genotyping technology allow the testing of multiple markers, simultaneously, in many candidate genes. We tested for associations between 176 haplotype-tagging single nucleotide polymorphisms (SNPs) in 18 candidate genes/loci and nonsyndromic clefts in a case-control study in an Estonian sample (153 patients, 205 controls). The most significant associations with nonsyndromic cleft lip with or without cleft palate (CL/P) were found for SNPs in MSX1, MTHFR, and PVRL2, including several common haplotypes in the MTHFR and MSX1 genes. The strongest association was observed for rs6446693 in the MSX1 region, which remained statistically significant after Bonferroni correction. The strongest association with nonsyndromic cleft palate (CP) was found for the SNP rs11624283 in the JAG2 gene. Epistatic interactions were observed for SNPs within PVRL2, between BCL3 and EDN1, and between IRF6 and MSX1 genes. This study provides further evidence implicating MSX1 and MTHFR in the etiology of nonsyndromic CL/P across different populations.

Objective: The aim of the study was to investigate the signs and symptoms of temporomandibular disorders (TMD) as well as the relationships between TMD, malocclusion and the need for orthodontic treatment., Material and Methods: Forty consecutive patients (36 F, 4 M) with a median age of 35 (IQR 18) years. Eighteen patients had Class I, 22 patients Class II malocclusion. A rating scale for the influence of TMJ pain/discomfort on the activities of daily living (ADL) was used simultaneously with clinical examination. Helkimo's Dysfunction Index (D(i)) and the Index of Orthodontic Treatment Need (IOTN) were determined for each participant., Results: Pain/discomfort in the TMJ area was positively correlated with interferences in laterotrusion (p=0.021), pain on palpation over the posterior aspects of TMJ (p=0.012) and pain in the masticatory muscles (p=0.023). The impact of TMJ pain/discomfort was greatest on the performance of a yawn and on opening the mouth wide. There was no statistically significant correlation between malocclusion, D(i)and IOTN. A comparison of Class I malocclusion patients to those with Class II malocclusion revealed no statistically relevant differences in Di and ADL., Conclusion: In patients with malocclusion, pain from TMJ has a significant negative impact on activities of daily living. No significant differences were observed between Angle Class I and Class II groups of patients with respect to TMD. Orthodontic treatment was required for both groups.