Cleft Lip

唇裂
  • 文章类型: Journal Article
    目的:面部裂痕是复杂的先天性异常,需要在彻底评估解剖结构的基础上进行综合治疗。本研究旨在使用几何形态计量学检查裂隙类型对颅面形态的影响。
    方法:我们评估了75例双侧唇腭裂患者的侧位头颅造影,63例单侧唇腭裂患者,和76例孤立性腭裂患者。在16个硬组织界标坐标上进行了广义Procrustes分析。用主成分分析研究了形状变异性。在风险模型方法中,前9个主成分(PC)用于检查裂隙类型的影响。
    结果:我们发现裂隙类型之间的平均形状存在统计学上的显着差异。双侧唇腭裂和孤立性腭裂之间的差异最大(平均0.026,P=0.0011)。裂隙类型之间的差异在PC4和PC5中最为明显(P=0.0001),它们一起占总形状变化的10%。PC4和PC5在上下表面的比例上显示出形状差异,下颌后高度,和下颌角。
    结论:裂隙型对非综合征性口面部裂隙患者颅面形态变异性有统计学意义,但影响较弱,主要是在垂直维度。
    结论:了解裂隙对颅面形态的影响对于为患者提供适合其特定需求的治疗至关重要。这项研究对文献有贡献,特别是由于我们的风险模型方法代替了预测模型。
    OBJECTIVE: Orofacial clefts are complex congenital anomalies that call for comprehensive treatment based on a thorough assessment of the anatomy. This study aims to examine the effect of cleft type on craniofacial morphology using geometric morphometrics.
    METHODS: We evaluated lateral cephalograms of 75 patients with bilateral cleft lip and palate, 63 patients with unilateral cleft lip and palate, and 76 patients with isolated cleft palate. Generalized Procrustes analysis was performed on 16 hard tissue landmark coordinates. Shape variability was studied with principal component analysis. In a risk model approach, the first nine principal components (PC) were used to examine the effect of cleft type.
    RESULTS: We found statistically significant differences in the mean shape between cleft types. The difference is greatest between bilateral cleft lip and palate and isolated cleft palate (distance of means 0.026, P = 0.0011). Differences between cleft types are most pronounced for PC4 and PC5 (P = 0.0001), which together account for 10% of the total shape variation. PC4 and PC5 show shape differences in the ratio of the upper to the lower face, the posterior mandibular height, and the mandibular angle.
    CONCLUSIONS: Cleft type has a statistically significant but weak effect on craniofacial morphological variability in patients with non-syndromic orofacial clefts, mainly in the vertical dimension.
    CONCLUSIONS: Understanding the effects of clefts on craniofacial morphology is essential to providing patients with treatment tailored to their specific needs. This study contributes to the literature particularly due to our risk model approach in lieu of a prediction model.
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  • 文章类型: Journal Article
    这项工作提出了怀孕期间COVID-19感染与非综合征性口面裂痕(NSOFC)之间的联系。这项研究的目的是比较一组患有NSOFC的儿童和没有NSOFC的儿童的对照组在母亲怀孕期间COVID-19疾病的发病率。COVID-19通过聚合酶链反应(PCR)检测得到证实。研究表明,与没有NSOFC的孩子的母亲组相比,生下NSOFC孩子的母亲组的COVID-19疾病发病率明显更高。我们的结果表明,COVID-19的感染可能参与了NSOFC的形成。
    The work presents the connection between the infection of COVID-19 during pregnancy and non-syndromic orofacial clefts (NSOFC). Aim of the study was to compare the incidence of COVID-19 disease during mother´s pregnancy between a group of the children with NSOFC and a control group of the children without NSOFC. COVID-19 was confirmed by polymerase chain reaction (PCR) test. The study showed significantly higher incidence of COVID-19 disease in the group of mothers who gave birth to a child with NSOFC in comparison to the group of mothers who gave birth to a child without NSOFC. Our results indicate the possible participation of the infection of COVID-19 in the formation of NSOFCs.
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  • 文章类型: Journal Article
    产前MRI在头颈部的评估中起着至关重要的作用。本文概述了胎儿颅骨的技术考虑因素以及孤立和综合征异常,地球仪和轨道,耳朵,上颌骨,下颌骨,和脖子。
    Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic anomalies of the fetal calvarium, globes and orbits, ears, maxilla, mandible, and neck.
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  • 文章类型: Journal Article
    目的:COHQoL是一组用于评估口腔健康对儿童生活质量影响的问卷。尽管CPQ8-10和P-CPQ已经用法语翻译和验证,CPQ11-1414尚未验证。目的是开发CPQ11-1416项目的法语版本。
    方法:CPQ11-14的法语版本是通过前后翻译过程获得的,并进行了预先测试。最终版本对11-14岁的儿童进行了测试,分为三组:口面裂痕儿童,患有除裂隙以外的罕见牙齿疾病的儿童,和没有异常的孩子。我们进行了一项横断面研究,并通过重测和内部一致性评估了可靠性,以及具有结构效度和判别效度的问卷效度。我们进行了探索性工厂分析(EFA)。
    结果:187名儿童对问卷进行了测试。重测的ICC为0.76,Cronbach的α为0.77。CPQ11-14与口腔健康自我评估和总体幸福感之间的相关性>0.2。患有口面裂痕和罕见疾病的患者的整体短形式CPQ11-14得分明显更高。全民教育揭示了六个因素。
    结论:法国CPQ11-14评估口腔健康对儿童生活质量的影响是有效的。
    结论:将本问卷翻译成法语将使我们能够评估口腔健康对青少年生活质量的影响。这份问卷补充了8-10年版本的CPQ,以及可以与问卷一起使用的家长版本。
    OBJECTIVE: The COHQoL is a set of questionnaires used to evaluate the impact of oral health on children\'s quality of life. Although the CPQ8-10 and the P-CPQ have been translated and validated in French, the CPQ11-14 14 has not yet been validated. The aim was to develop a French version of the CPQ11-14 16-items.
    METHODS: The French version of CPQ11-14 was obtained by a forward-backward translation process and pretested. The final version was tested on children aged 11-14 and divided into three groups: children with orofacial clefts, children with rare dental diseases other than clefts, and children without anomalies. We conducted a cross-sectional study and evaluated the reliability with test-retest and internal consistency, and the questionnaire validity with construct validity and discriminant validity. We performed an Exploratory Factory Analysis (EFA).
    RESULTS: 187 children tested the questionnaire. The ICC of the test-retest was 0.76 and the Cronbach\'s alpha was 0.77. The correlation between the CPQ11-14 and self-assessment of oral health and general well-being was > 0.2. Patients with orofacial clefts and rare diseases had significantly higher scores for overall short-form CPQ11-14. The EFA revealed six factors.
    CONCLUSIONS: The French CPQ11-14 is valid to assess the impact of oral health on children\'s quality of life.
    CONCLUSIONS: The translation of this questionnaire into French will enable us to assess the impact of oral health on the quality of life of adolescents. This questionnaire complements the 8-10 years version of the CPQ, as well as the parental version that can be used in conjunction with the questionnaire.
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  • 文章类型: Journal Article
    单侧唇腭裂(UCLP)鼻畸形影响气流模式和压力分布,导致鼻呼吸困难.本研究旨在创建一种使用计算机辅助设计(CAD)和计算流体动力学(CFD)的综合方法,以模拟气道功能并评估LeFortI截骨术推进后与单侧唇裂和腭裂(UCLP)相关的鼻畸形的结果。观察到鼻部几何形状的显着改变,气流速度,压力动力学,体积流量,术后鼻腔阻力,显示鼻腔气流改善。横截面积增加了26.6%,气流率6.53%,鼻阻力下降6.23%。该研究提供了对此类外科手术干预的功能影响的定量见解,有助于加深对UCLP鼻畸形治疗的了解,并为评估手术效果提供客观指标。
    Unilateral cleft lip and palate (UCLP) nasal deformity impacts airflow patterns and pressure distribution, leading to nasal breathing difficulties. This study aims to create an integrated approach using computer-aided design (CAD) and computational fluid dynamics (CFD) to simulate airway function and assess outcomes in nasal deformities associated with unilateral cleft lip and palate (UCLP) after LeFort I osteotomy advancement. Significant alterations were observed in nasal geometry, airflow velocity, pressure dynamics, volumetric flow rate, and nasal resistance postoperatively, indicating improved nasal airflow. The cross-sectional area increased by 26.6%, airflow rate by 6.53%, and nasal resistance decreased by 6.23%. The study offers quantitative insights into the functional impacts of such surgical interventions, contributing to a deeper understanding of UCLP nasal deformity treatment and providing objective metrics for assessing surgical outcome.
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  • 文章类型: Journal Article
    目的:在巴西南部的18号染色体三体性患者样本中验证口腔裂隙的患病率并进行临床表征。
    方法:这是一项回顾性的横断面研究,在巴西南部的参考临床遗传服务中进行。最初的样本包括77名在新生儿期诊断为18三体的患者,这些患者在阿雷格里港联邦健康科学大学(UFCSPA)的转诊医院的临床遗传学服务中接受治疗。患者的诊断已通过核型确认,并在医院重症监护病房(ICU)住院期间提供护理,这是巴西南部畸形患者护理的参考。涵盖的时间是从1975年到2020年。
    结果:在研究期间,77例诊断为18三体的患者接受治疗,大部分都在ICU。其中,由于数据不完整,排除了13人。最终样本包括64名平均年龄为2.4岁的患者,从一天到16岁,其中大多数是女性。关于样本中识别出的面部畸形,3例(4,68%)患者患有唇裂,2例(3,11%)患者患有唇裂和腭裂.
    结论:这项研究有助于在来自巴西南部的18三体患者样本中识别口腔裂隙的特征和患病率。此外,我们描述了口腔裂隙患者的临床改变,以及其他相关的合并症,比如心脏,神经和肺部合并症,以及颅骨和面部畸形。
    OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil.
    METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients\' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020.
    RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate.
    CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.
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  • 背景:VanderWoude综合征(VWS)是一种罕见的先天性畸形,其特征是唇和/或腭裂患者的下唇凹陷。它通过具有可变表达的常染色体显性遗传传播。
    方法:研究组由24名连续患者(13名男性和11名女性)组成,在2009年至2022年期间在一个中心进行了VWS手术。他们患有:双侧唇腭裂-6例;单侧唇腭裂-9例;唇裂-1例;孤立性腭裂-8例。
    结果:在16例(66%)中,中线两侧出现下唇凹陷,而在8个(34%)的凹坑是单方面检测到的。根据一阶段原则,在平均年龄8.6个月(SD1.4,范围6-12)进行了初次裂隙修复。在所有患者中,在平均年龄为37个月(SD11.3,范围为14-85)的初次唇裂修复后,作为单独的程序进行了下唇窝修复。该综合征的所有主要修复-裂隙缺损和下唇窝修复-的平均数量为2.46。9名患者(37.5%)由于术后美学效果不佳,需要对下唇进行额外的二次矫正。
    结论:经常需要对残余下唇畸形进行二次矫正,这表明在获得VWS引起的唇凹修复的满意结果方面存在相当大的困难。评估材料中主要手术干预的平均数量仍然很低。
    BACKGROUND: Van der Woude syndrome (VWS) is a rare congenital malformation characterized by lower lip pits among patients with a lip and/or palate cleft. It is transmitted by an autosomal dominant inheritance with variable expressivity.
    METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients.
    RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome.
    CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.
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  • 文章类型: Journal Article
    非综合征性口面裂痕(NSOFC)是常见的出生缺陷,病因复杂。虽然已经确定了60多个常见的风险位点,他们只解释了NSOFCs遗传力的一小部分。罕见的变异与缺失的遗传力有关。因此,我们的研究旨在鉴定富含与NSOFCs相关的非同义罕见编码变异的基因.我们的样本包括814例非综合征性唇裂伴或不伴腭(NSCL/P),205非综合征性腭裂(NSCPO),和来自尼日利亚的2150名无关的控制儿童,加纳,埃塞俄比亚。我们使用三种罕见变异塌陷模型分别对每种表型进行了基于基因的分析:(1)蛋白质改变(PA),(2)仅错义变体(MO);和(3)仅丧失功能变体(LOFO)。随后,我们利用相关转录组学数据评估相关基因表达,并使用gnomeAD数据库检查其突变约束.总的来说,13个基因显示暗示性关联(p=E-04)。其中,八个基因(ABCB1,ALKBH8,CENPF,CSAD,EXPH5,PDZD8,SLC16A9和TTC28)在面部形成过程中在相关的小鼠和人类颅面组织中一致表达,三个基因(ABCB1、TTC28和PDZD8)显示出统计学上显著的突变约束。这些发现强调了罕见变异在鉴定NSOFC候选基因中的作用。
    Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, and Ethiopia. We conducted a gene-based analysis separately for each phenotype using three rare-variants collapsing models: (1) protein-altering (PA), (2) missense variants only (MO); and (3) loss of function variants only (LOFO). Subsequently, we utilized relevant transcriptomics data to evaluate associated gene expression and examined their mutation constraint using the gnomeAD database. In total, 13 genes showed suggestive associations (p = E-04). Among them, eight genes (ABCB1, ALKBH8, CENPF, CSAD, EXPH5, PDZD8, SLC16A9, and TTC28) were consistently expressed in relevant mouse and human craniofacial tissues during the formation of the face, and three genes (ABCB1, TTC28, and PDZD8) showed statistically significant mutation constraint. These findings underscore the role of rare variants in identifying candidate genes for NSOFCs.
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  • 文章类型: Journal Article
    这篇综述旨在评估激光治疗唇裂和/或腭裂(CL/P)修复手术导致的疤痕的有效性和安全性。以及确定干预的最佳时机。使用预定义的搜索策略在四个数据库中进行了系统搜索。研究包括随机对照试验,非随机研究,和病例系列专注于激光治疗CL/P疤痕。使用Revman软件进行数据提取和分析。共有两项随机对照试验,四项非随机研究,分析中包括3个病例系列.分数CO2激光器是最常用的激光器类型。激光治疗后,温哥华瘢痕量表(VSS)评分显著下降4.05(95%CI,2.10-5.99).荟萃分析显示,激光治疗组的平均VSS评分(1.3;95%CI,0.02-2.67)明显低于对照组。此外,与术后3个月开始激光治疗相比,术后1个月开始激光治疗干预的VSS评分显著降低(差异1.70;95%CI,1.33~2.08).无严重并发症报告。激光治疗证明了改善CL/P疤痕的有效性和安全性,早期干预会产生更大的好处。
    This review aims to assess the efficacy and safety of laser therapy in managing scars resulting from cleft lip and/or palate (CL/P) repair surgeries, as well as to determine the optimal timing for intervention. A systematic search was conducted across four databases using a predefined search strategy. Studies included were randomized controlled trials, non-randomized studies, and case series focusing on laser therapy for CL/P scars. Data extraction and analysis were performed using Revman Software. A total of two randomized controlled trials, four non-randomized studies, and three case series were included in the analysis. The fractional CO2 laser was the most commonly utilized type of laser. Following laser therapy, there was a significant decrease in Vancouver Scar Scale (VSS) scores by 4.05 (95% CI, 2.10-5.99). Meta-analysis revealed that laser treatment groups exhibited a significantly lower mean VSS score (1.3; 95% CI, 0.02-2.67) compared to control groups. Moreover, initiating laser therapy intervention at one month postoperatively resulted in a significantly lower VSS score compared to initiation at three months postoperatively (difference of 1.70; 95% CI, 1.33-2.08). No severe complications were reported. Laser therapy demonstrates effectiveness and safety in improving CL/P scars, with earlier intervention yielding greater benefits.
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  • 文章类型: Journal Article
    目的:唇腭裂(CLP)患儿患龋齿的风险更大。父母的知识和态度可能会影响孩子的口腔健康和饮食习惯。因此,这项研究的目的是评估社会人口统计学特征,口腔健康知识,口腔健康行为,和父母的习惯,以及与CLP孩子的口腔健康和饮食习惯的关系。
    方法:343名CLP患者的父母参与了这项研究。一份包含52个关于社会人口统计学特征问题的在线问卷,向他们介绍了口腔健康和口腔卫生习惯。
    结果:文化程度较高的父母口腔健康知识水平较好(p<0.05)。Logistic回归分析显示,影响儿童刷牙习惯的因素是母亲的年龄(比值比[OR]=1.071,95%置信区间[CI]:1.062-1.153),父亲的就业状况(OR=2.089,95CI:1.065-4.097),和母亲的最后一次牙科访问(OR=1.995,95CI:1.119-3.557)。影响儿童牙膏使用的因素是母亲的年龄(OR=1.106,95CI:1.030-1.114),父亲的就业状况(OR=2.124,95CI:1.036-4.354),和母亲的最后一次牙科访问(OR=2.076,95CI:1.137-3.79)。
    结论:父母因素对CLP患儿口腔健康相关行为有显著影响。
    OBJECTIVE: Children with cleft lip and palate (CLP) have a greater risk of dental caries. The parents\' knowledge and attitudes may have an impact on their children\'s oral health and dietary habits. Therefore, the aim of this study was to assess the socio-demographic characteristics, oral health knowledge, oral health behaviours, and habits of the parents in addition to the relationship with the oral health and dietary practices of their children with CLP.
    METHODS: The parents of 343 patients with CLP participated in the study. An online questionnaire with 52 questions regarding sociodemographic characteristics, oral health and oral hygiene practices was presented to them.
    RESULTS: Parents with higher level of education had better oral health knowledge (p < 0.05). Logistic regression analysis showed that the factors affecting the child\'s tooth brushing habits were the mother\'s age (odds ratio [OR] = 1.071, 95% confidence interval [CI]: 1.062-1.153), the father\'s employment status (OR = 2.089, 95%CI: 1.065-4.097), and the mother\'s last dental visit (OR = 1.995, 95%CI: 1.119-3.557). The factors affecting the child\'s toothpaste usage were the mother\'s age (OR = 1.106, 95%CI: 1.030-1.114), the father\'s employment status (OR = 2.124, 95%CI: 1.036-4.354), and the mother\'s last dental visit (OR = 2.076, 95%CI: 1.137-3.79).
    CONCLUSIONS: Parental factors have a significant influence on the oral health-related behaviours of children with CLP.
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