Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing

Class III malocclusion is a common dentofacial deformity. The underlying genetic alteration is largely unclear. In this study, we sought to determine the genetic etiology for Class III malocclusion. A four‐generation pedigree of Class III malocclusion was recruited for exome sequencing analyses. The likely causative gene was verified via Sanger sequencing in an additional 90 unrelated sporadic Class III malocclusion patients. We identified a rare heterozygous variant in endoplasmic reticulum lectin 1 (ERLEC1; NM_015701.4(ERLEC1_v001):c.1237C>T, p.(His413Tyr), designated as ERLEC1‐m in this article) that cosegregated with the deformity in pedigree members and three additional rare missense heterozygous variants (c.419C>G, p.(Thr140Ser), c.419C>T, p.(Thr140Ile), and c.1448A>G, p.(Asn483Ser)) in 3 of 90 unrelated sporadic subjects. Our results showed that ERLEC1 is highly expressed in mouse jaw osteoblasts and inhibits osteoblast proliferation. ERLEC1‐m significantly enhanced this inhibitory effect of osteoblast proliferation. Our results also showed that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. The ERLEC1 variant identified in this study is likely a causal mutation of Class III malocclusion. Our study reveals the genetic basis of Class III malocclusion and provides insights into the novel target for clinical management of Class III malocclusion, in addition to orthodontic treatment and orthodontic surgery.     

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结合矫治下颌后缩畸形的常用功能性矫治器在国内外研究和应用的现状,简要阐述了此类矫治器的分类、特点、工作原理、矫治效果及适应证等方面的内容,旨在为临床如何合理选用功能性矫治器治疗生长发育期安氏Ⅱ类错畸形提供一定的参考依据。     

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目的研究成人错畸形患者的心理状态,探讨解决方案。方法选择2007年1月至2008年12月在大庆油田总医院集团五官医院口腔科和大庆油田总医院口腔正畸科就诊的成年错畸形患者30例,应用汉密顿焦虑(HAMA)、汉密顿抑郁(HRSD)量表对成人口腔正畸患者矫治前后进行心理状况评定。结果矫治前患者HAMA、HRSD的测量结果明显高于正畸矫治加心理支持治疗后的结果,其差异有统计学意义(P<0.05)。结论成人正畸患者在治疗前普遍存在焦虑、抑郁等临床心理问题,正畸矫治加有针对性的心理支持可改善患者的心理问题。     

功能调节器Ⅰ型(FR-Ⅰ)早期治疗安氏Ⅱ1的软硬组织变化

目的研究早期应用FR-Ⅰ治疗安氏Ⅱ1前后牙颌面软硬组织的变化并探讨相互关系.方法对10例应用FR-Ⅰ治疗前后的9～11岁安氏Ⅱ1病例X线头颅侧位定位片进行分析,共测量18项硬组织和15项软组织项目,分析治疗前后软硬组织的变化.结果矫治后的硬组织改变主要为SNB角的增大和ANB角的减小,提示下颌骨的生长,面角增加和颌突角减小,上前牙轻度内收和下前牙少量唇倾.软组织面凸角减小,软组织面角和Z角增加,反映软组织侧貌突度减小.结论对安氏Ⅱ1病例早期应用FR-Ⅰ能够产生下颌骨骨骼改变,并达到相应的软组织侧貌的改善.     

Ⅲ类错合的矫治及咬合状况与颞下颌关节紊乱病相关性评估

目的比较正畸治疗和正畸正颌联合治疗安氏Ⅲ类错合后颞下颌关节紊乱病(TMD)发病率的差异,并评估咬合因素对TMD的影响程度。方法60例分为两组(正畸治疗组和正畸正颌联合治疗组),通过询问既往史并结合临床检查(TMJ和肌肉的触诊,下颌的运动范围,关节弹响及咬合情况)对TMD的症状和体征进行评估。结果对既往史的调查表明51.7%的患者没有TMD,36.7%的患者有轻微的TMD,11.7%的患者有中度的TMD;TMD及其程度与对Ⅲ类错合矫治的方法无显著性相关(P>0.05);TMD的发生和非工作侧的咬合干扰相关(P<0.05)。结论对Ⅲ类错合不同治疗方法(正畸治疗组和正畸正颌联合治疗组)的TMD发病率没有明显差异;非工作侧的咬合干扰可能是TMD的危险诱因。     

福州地区未婚青年对口腔正畸的需求和认知

目的 对福州地区未婚青年口腔正畸治疗的需求与认知进行流行病学调查,探讨该人群对正畸治疗的主观需求及接受治疗的影响因素.方法 编制成年人正畸意向调查问卷,对106名福州地区未婚青年进行问卷调查,所得数据进行统计分析.结果 受访者希望自己的牙齿更加整齐(100%),认为牙齿矫正后自己会更自信(80%).在影响接受矫正的负面想法中,认为矫正所需时间太长占49.1%,害怕戴矫正器受到嘲笑占31.2%.结论 促使未婚青年接受正畸治疗的主要因素包括错(牙合)畸形的严重程度、对牙齿美观程度的评价及对正畸治疗后改善面容程度的期望,该人群拒绝正畸治疗的主要因素是对诊疗周期过长的顾虑.     

成人单侧后牙反牙合患者下颌及颞颌关节的对称性

目的：研究成人单侧后牙反He患者下颌及颞颌关节的对称性,方法：对20例成人单侧后牙反He患者及23例正常He成人拍摄定位颏顶位片及双侧颞颌关节中位断层片进行描记分析。结果：成人单仙蝗牙反He患者在下颌坐标系中反He侧DMP点更靠远中及颊侧,在颅底坐标系中反He侧CMP,DMP点更靠远中,DMP,MM,DM点更靠侧方。结论：相对下颌坐标系,反He侧第一磨牙位置与对侧相比更靠远中及颊侧,在骨性结构上,未见下颌的不对称,相对颅底平面,下颌骨向反He侧发生了旋转。     

Orthodontic treatment priorities in the Danish Child Dental Health Services

Abstract In 1980, the population of Danish schoolchildren in grade 9 formed the first cohort which, throughout all school grades, had been covered by the Child Dental Health Services including free orthodontic care. National statistics on prevalence of malocclusion for this cohort of about 60000 children in grades 3, 6, and 9 (approximate ages: 9, 12, and 15 years) were compared with corresponding frequencies in a population of schoolchildren in the 1960s among whom orthodontic treatment was rare. From the comparison it is inferred that treatment priority, based on professionally defined need, had been given to occlusal anomalies of the incisor segment transverse anomalies of the lateral segments, and crowding.     

Bite force determination in children with primary dentition

The aim of this study was to determine the bite force with primary dentition in 30 children with normal occlusion (group I), cross bite (group II) and open bite (group III). The magnitude of the bite force was determined through a pressurized transmitter tube (pressure sensor MPX 5700 Motorola), which was connected to a converse analog/digital electronic circuit. The children bit the tube with maximum force three times successively for 5 s, with a 10 s interval among each bite, and the sign was sent directly to the computer. The highest value of the three, for each patient, was considered. Analysis of variance evaluated difference among the three groups. The means of maximum bite force were 213 17, 249 63 and 241 19 N for the groups, respectively, and there were no significant statistical differences among them (P > 0.05). The analysis of correlation showed that the weight, height and bite force presented weak positive correlation (r=0.24 and 0.23). It was concluded that in the studied groups the type of occlusion did not affect the maximum values of the bite force and body variables had a small influence in this magnitude.     

Appropriateness of orthodontic referrals: self-perceived and normative treatment needs of patients referred for orthodontic consultation

OBJECTIVES: The aims of this prospective study were to evaluate the self-perceived and normative orthodontic treatment needs of children referred for orthodontic consultation and to determine the proportion of children who were inappropriately referred. METHODS: The sample consisted of 257 children with a mean age of 12.0 years (SD = 2.4). An orthodontist assessed the children's normative treatment need using the dental health component (DHC) of the index of orthodontic treatment need (IOTN), and for patients in the mixed dentition the need for interceptive treatment was assessed. Questionnaires were answered by both the child and the parent to assess satisfaction with dental appearance and desire for treatment. RESULTS: The distribution of the IOTN grades showed that 73% of the children had definite need while 27% had borderline/no need for orthodontic treatment. Twenty-six per cent of children and 17% of parents did not express orthodontic concern, even though more than half of these children were in definite need of treatment as assessed by IOTN. The children's orthodontic concern was significantly related to the DHC scores. Out of the 103 children who were in the mixed dentition, only about 16% required interceptive treatment. CONCLUSIONS: The results indicated that a significant number of children were inappropriately referred for orthodontic treatment. Referring dentists need to assess the normative treatment needs of the children as well as the children's and parents' commitment and desire for orthodontic treatment before deciding on the need for referral.