Bone and Cartilage Gene Variants Associated With Anteroposterior Traits in Korean Class III Malocclusion

A comparative assessment of the perception of Chinese facial profile esthetics

ObjectiveTo evaluate the impact of maxillary position on orbitomalar and suborbital projection by comparing patients with and without cleft with normal and retrusive maxilla, and to determine whether projection loss is primarily related to cleft pathology or maxillary retrusion.DesignRetrospective comparative cephalometric study.SettingSingle tertiary orthodontic center; records from 2010 to 2015.PatientsA total of 142 patients (74 with cleft, 68 without cleft) aged 7 to 13 years, meeting defined inclusion criteria. Patients were divided into 4 groups according to cleft status and maxillary AP position determined by SNA: retrusive maxilla with cleft (RCMx, n = 44), normal maxilla with cleft (NCMx, n = 30), retrusive maxilla without cleft (RMx, n = 28), and normal maxilla without cleft (NMx, n = 40).InterventionsNo intervention was performed.Main Outcome MeasuresLinear orbitomalar projection measurements (LOr-VP, IOr-VP, AOr-VP, SbOr1-VP, SbOr2-VP) and maxillary position parameters (SNA, ANS-VP, A-VP). Group comparisons and correlation analyses were performed using non-parametric statistics.ResultsSignificant intergroup differences were observed for all orbitomalar and suborbital projection measurements (P < .05). Patients with retrusive maxilla, regardless of cleft status, demonstrated lower orbital and suborbital projection values compared with those with normal maxillary position. Suborbital parameters showed the largest variation between groups. Moderate-to-strong positive correlations were found between maxillary anterior development (SNA, ANS-VP, A-VP) and orbitomalar projection.ConclusionMaxillary retrusion, rather than cleft status, appears to be a key determinant of reduced orbitomalar projection and midfacial convexity. In patients with retrusive maxilla, correction of midfacial deficiency may require consideration of infraorbital and zygomatic support in addition to maxillary advancement.

The symptoms of temporomandibular joint disorder (TMD) in 33 patients indicative for surgical orthodontic treatment (8 males and 25 females, mean age of 22.5 years) were evaluated before treatment, during presurgical orthodontic and after treatment respectively through the questionnaires and the study casts. The patients were divided into 18 mandibular prognathism, 4 mandibular retrusion, 15 asymmetry, and 4 open bite cases.1. There was a significant difference in incidence of TMD symptoms between before (81.8%) and after (48.5%) treatment in all the patients.2. Incidence of TMD disorders decreased from 86.7% to 60.0% in asymmetry, from 72.2% to 27.8%(p<0.05) in mandibular prognathism and from 50% to 25% in open bite from before to after treatment, while in mandibular retrusion it remained 75% before and after treatment.3. The incidence of joint noise was 100% in mandibular retrusion and 46.7% in asymmetry before and after treatment, while it decreased from 44.4% to 22.2%(p<0.05) in mandibular prognathism and from 25% to 0% in open bite. Joint noise showed various changes during presurgical orthodontics in each malocclusion.4. The incidence of difficulty in mouth opening remained 50% in mandibular retrusion before and after treatment, while it decreased from 26.7% to 6.7% in asymmetry and from 16.7% to 5.6% in mandibular prognathism from before to after treatment. The open bite patients did not show difficulty in mouth opening both before and after treatment. Incidence of difficulty of opening tended to decrease in asymmetry and mandibular prognathism during presurgical orthodontics, while it worsened in mandibular retrusion.5. Mean value of VAS (Visual analog scale) in mandibular retrusion, which was used as an indicator for pain of temporomandibular joint, decreased from 60.0±42.4 to 40.4±14.1 from before treatment to presurgical prthodontics, however, it increased and showed 65.0±21.2 after treatment. Although VAS in asymmetry and mandibular prognathism showed 27.5±23.3 and 30.0±22.9 before treatment, and 27.0±17.9 and 27.5±19.4 presurgical orthodontics respectively, it decreased to 6.7±2.9 and 5.0 after treatment respectively. Open bite did not show pain of TMJ before and after treatment.These results suggested that symptoms of TMD in asymmetry and mandibular prognathism tend to be improved by surgical orthodontic treatment, but there were some cases of mandibular retrusion that did not improve.

Professional assessment of facial profile attractiveness

The objective of this article was to investigate the perception of esthetic changes in the facial profile of bilateral Class II patients treated with the Modified Thurow Appliance for extraoral treatment. Silhouettes were traced of profiles of patients who initially presented a bilateral Class II molar relationship and who, post-treatment, presented molars in a Class I relationship. Three groups were formed: the first composed of patients with maxillary protrusion (SNA >84°), the second with maxillary retrusion (SNA <80°), and the third with a well-positioned maxilla (SNA 80-84°). A panel of 200 lay evaluators judged the profile esthetics by a randomized drawing of the silhouettes. The multiple analysis results showed that the profile esthetic scores for the three positions of the maxilla were greatly influenced by significant interactions with the characteristics (like sex and age) of the evaluators: retrusive maxilla (Score *Age Group, p < 0.001), normal maxilla (Score *Sex, p = 0.024; Score *Age Group, p = 0.050) and protrusive maxilla (Score *Age Group, p < 0.001). It was observed that the profile of Class II patients with protrusion, normal relationship and retrusion of the maxilla, improved in their esthetic post-treatment result; however, the evaluators showed greater satisfaction with the groups of protrusion and normal position of the maxilla. The Modified Thurow Appliance provided significant improvements in the esthetics of the profile of patients who presented protrusion and normal position of the maxilla. However, its use was not the best treatment option for patients with maxillary retrusion.

Association between the GHR, GHRHR, and IGF1 gene polymorphisms and milk yield and quality traits in Sarda sheep

The growth hormone (GH) receptor (GHR) exon 3 deleted/full-length (d3/fl) polymorphism has been suggested to affect GH sensitivity. The conventional genotyping method used for this polymorphism (multiplex PCR with fragment detection by gel electrophoresis) is laborious and requires large amount of DNA template. This has restricted analysis of this polymorphism to small cohorts. Our aim was to evaluate the accuracy of using a tagging single nucleotide polymorphism (tagSNP) as a marker for the d3/fl polymorphism. The d3/fl polymorphism was analyzed using TaqMan SNP genotyping of the tagSNP rs6873545 in 183 patients with adult GH deficiency (GHD). The results were compared to d3/fl genotypes determined by the conventional method. Genotyping success rate for the tagSNP was 100%. Frequency of the d3-allele was 24.0% (d3/d3 7.7%, d3/fl 32.2% and fl/fl 60.1%) and the results from the two different methods were identical. Moreover, three samples previously undetermined when genotyped using the conventional method were successfully analyzed using the tagSNP. The GHR d3/fl polymorphism can be studied by TaqMan SNP genotyping. Use of the tagSNP facilitates investigations of the effects of the d3/fl polymorphism in large cohorts.

Genetic influences are important in the determination of mandibular morphology, and growth hormone receptor (GHR) is believed to have an important influence on the growth of craniofacial bone. In this study, we used quantitative trait locus methods to evaluate the relationship between craniofacial morphology and single-nucleotide polymorphisms (SNPs) in GHR in an unselected healthy Chinese population. We systematically screened the 10 exons and nearby introns of GHR and identified 6 SNPs. Using 4 SNPs as markers, we studied the relationships between genotypes and craniofacial linear measurements. Individuals with the genotype CC of polymorphism I526L had a significantly greater mandibular ramus length (condylion-gonion/ articulare-gonion) than those with genotype AC or AA. Haplotype analysis showed that there were also significant differences between the long and short mandibular height groups in an extreme population. Our results indicate that the GHR gene polymorphism I526L is associated with mandibular height in the Chinese population.

MilkProtChip is oligonucleotide microarray allowing bovine genotyping based on single nucleotide polymorphisms (SNPs) in genes influencing milk protein biosynthesis. A total of 71 SNPs in 42 genes were selected as associated with milk protein biosynthesis. Genotyping of about 300 animals of Polish Black-and-White cattle showed that SNPs in acyl-CoA: 1,2-diacylglycerol O-transferase (DGAT1), lactoferrin (LTF), casein kappa (CSN3) and growth hormone receptor (GHR) genes were associated with several milk performance traits. Analysis of correlations between SNPs and milk production traits showed that SNPs in single genes rarely affect the investigated traits. Only 4 of 42 investigated single SNPs had impact on milk production traits while 22 combinations of paired SNPs in these genes had impact. Positive effect SNP combinations in two genes can be a result of additive effect on these SNPs on the same traits or effect of genes interaction. The MilkBovExp chip representing 90 genes encoding transcription factors expressed in the bovine mammary gland and/or involved in mammary gland signaling pathways was designed for further investigation of impact of gene expression and/or its encoded products on milk traits performance.

Mandibular prognathism (MP) is considered to be a cranial-facial disorder resulting from the interaction between genes and environment. Recent studies have demonstrated that susceptible chromosomal regions and candidate genes may be responsible for MP. In this study, the authors present current views on the effect of genetic components in nonsystematic mandibular prognathism, in order to clarify the genetic etiology of MP. Data source were Electronic databases, manual searching, and reference lists checking, up to April 2016. Study selection, level of evidence assessment, and data extraction were done by 2 individuals in duplicate. Ninety-one studies were retrieved in initial electronic and manual search, and based on the established inclusion and exclusion criteria, 15 were selected for the review. In result, loci 1p36, 1q32.2, 1p22.3, 4p16.1, 6q25, 19p13, 14q24.3, 14q31.1, and 14q31.2 were thought to harbor genes that confer susceptibility to MP. Genes Matrilin-1, ADAMTS1, COL2A1, and EPB41 seemed to be strongly associated with MP while gene of growth hormone receptor was in dispute. Genetic components appeared to be associated with MP. However, in view of the variety of populations and results in related publications, further studies are necessary to clarify the genetic etiology of MP.

Background Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous. Aim This research work was aimed to study the association between polymorphism rs10850110 of the MYO1H gene and skeletal class-III malocclusion in our local population. Materials and Methods Thirty patients with skeletal class III due to mandibular prognathism in the study group and 30 patients with skeletal class I in the control group were selected for this study. These patients were from both sexes and above age 10 years. Based on the cephalometric values, patients were categorized into study and control groups. SNB (angle between sella, nasion and point B at nasion) greater than 82 degrees with an ANB (angle between point A, nasion and point B at nasion) of less than 0 degrees in the study group and ANB (angle between point A, nasion and point B at nasion) of 2 to 4 degrees in the control group were categorized. The polymorphism (rs10850110) of the MYO1H gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism. Associations were tested with SNP exact test using SNPstats software. Results The single-nucleotide polymorphism rs10850110 showed a statistically significant association with mandibular prognathism. The G allele of marker rs10850110 (5′ of myosin1H - MYO1H ) was overrepresented when compared with the “A” allele in mandibular prognathism cases ( p < 0.0001), and this was very significant. Conclusion These results suggest that the rs10850110 polymorphism of the MYO1H gene is associated with an increased risk for mandibular prognathism.

Stereolithographic (medical rapid prototyping) biomodeling allows three-dimensional computed tomography to be used to generate solid plastic replicas of anatomic structures. Reports in the literature suggest that such biomodels may have a use in maxillofacial surgery, craniofacial surgery, orthopedics, neurosurgery, otology, vascular, and nasal research. A prospective trial to assess the usefulness of biomodeling in orthognathic surgery has been performed. In 12 patients with mandibular prognathism and/or maxillary retrusion, in addition to routine preoperative cephalometric analysis, preoperative high-resolution (cutting slice thickness of 1 mm) three-dimensional computed tomography scan of the patients was obtained. Raw data obtained from computed tomography scanning was processed with a Mimics 9.22 Software (Materialise's Interactive Medical Image Control System, Belgium). Fabrication of three-dimensional medical models was obtained through a process called powder depositional modeling by use of a Spectrum Z 510 3D Color Printer (Z Corporation, Burlington, MA). Alveolar arches of the maxilla and mandibula of the models were replaced with orthodontic dental cast models. Temporomandibular joints of the models were fixed with Kirschner wire. Maxillary and mandibular bony segments were mobilized according to preoperative orthodontic planning done by analysis of cephalometric plain radiographs. The relation between proximal and distal mandibular segments after bilateral sagittal split osteotomies were evaluated on models preoperatively. The same surgeon had a role in both model cutting preoperatively and as an instructor preoperatively. The same bony relation was observed both in preoperative modelsand in the perioperative surgical field in all patients. Condylar malpositioning was not observed in any of the patients. Studying preoperative planned movements of osteotomized bone segments and observing relations of osteotomized segments of mandibula and maxilla in orthognathic surgery increased the intraoperative accuracy. Limitations of this technology were manufacturing time and cost.

A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.

Growth hormone receptor (GHR) is one factor aff ecting animal growth.GHR is required by growth hormone (GH) to carry out its eff ects on target tissues.The objective of the study was to estimate genetic diversity of the GHR|AluI gene in bali, limousin, simmental and pesisir ca le.Genotyping was performed on 248 animals, including 162 bali, 21 limousin, 17 simmental and 48 pesisir.Single nucleotide polymorphisms (SNP) had been found in exon 10, coding for the cytoplasmic domain of GHR, which was located at position 81 bp (A/G) induced amino acid substitutions Ser/Gly.Genotype frequencies of bali ca le AA (0.988), GG (0.006) and AG (0.006) were evidenced for the GHR AluI monomorphism, but mostly diff erent from limousin GG (0.667), AA (0.238) and AG (0.095), simmental AG (0.529), GG (0.471) and AA (0.000), pesisir AA (0.604), GG (0.375) and AG (0.021) were the evidence of polymorphism.Homozigosity (monomorphism) in bali ca le might be aff ected by adaptability in extreme environmental conditions such as poor nutrition and improper management practices.It also could be aff ected by natural selection and phenotype plasticity phenomena.

The present study aimed to investigate changes in cervical lordosis, neck disability, and postural balance through static and dynamic tests in patients with skeletal Class III malocclusion who were treated with bimaxillary orthognathic surgery. In this prospective observational study, 18 patients (mean age 23.3±5.4 years) with maxillary retrusion and mandibular prognathia were treated by bimaxillary orthognathic surgery. Static and dynamic balance tests were recorded with the Kinesthetic Ability Trainer preoperatively (T1) and at least 2 months postoperatively (T2). Cervical lordosis angle (C2-C7) was evaluated with the posterior tangent method on the lateral cephalometric films taken at T1 and T2. Neck disability and pain were assessed through questionnaires at both time points. The median follow-up time was 5.8 months. The mean maxillary advancement was 4.0 mm at point A (p=0.001). The mean mandibular setback was 2.4 mm at point B (p=0.166). An 8.4 mm maxillomandibular correction was observed according to the Wits appraisal (p=0.001). Static and dynamic balance tests, cervical lordosis angle, neck disability, and pain revealed no significant change between T1 and T2. No statistically significant correlation was observed between surgical movements and changes in the cervical lordosis angle. Orthognathic surgical correction of skeletal Class III malocclusion, -primarily through maxillary advancement with less mandibular setback- did not lead to significant changes in cervical lordosis, neck disability, or postural balance as assessed through static and dynamic tests.