The evolution of jaws has played a major role in the success of vertebrate expansion into a wide variety of ecological niches. A fundamental, yet unresolved, question in craniofacial biology is about the origin of the premaxilla, the most distal bone present in the upper jaw of all amniotes. Recent reports have suggested that the mammalian premaxilla is derived from embryonic maxillary prominences rather than the frontonasal ectomesenchyme as previously shown in studies of chicken embryos. However, whether mammalian embryonic frontonasal ectomesenchyme contributes to the premaxillary bone has not been investigated and a tool to trace the contributions of the frontonasal ectomesenchyme to facial structures in mammals is lacking. The expression of the Alx3 gene is activated highly specifically in the frontonasal ectomesenchyme, but not in the maxillary mesenchyme, from the beginning of facial morphogenesis in mice. Here, we report the generation and characterization of a novel Alx3CreERT2 knock-in mouse line that express tamoxifen-inducible Cre DNA recombinase from the Alx3 locus. Tamoxifen treatment of Alx3CreERT2/+;Rosa26mTmG/+ embryos at E7.5, E8.5, E9.5, and E10.5, each induced specific labeling of the embryonic medial nasal and lateral nasal mesenchyme but not the maxillary mesenchyme. Lineage tracing of Alx3CreERT2-labeled frontonasal mesenchyme from E9.5 to E16.5 clearly showed that the frontonasal mesenchyme cells give rise to the osteoblasts generating the premaxillary bone. Furthermore, we characterize a Dlx1-Cre BAC transgenic mouse line that expresses Cre activity in the embryonic maxillary but not the frontonasal mesenchyme and show that the Dlx1-Cre labeled embryonic maxillary mesenchyme cells contribute to the maxillary bone as well as the soft tissues lateral to both the premaxillary and maxillary bones but not to the premaxillary bone. These results clearly demonstrate the developmental origin of the premaxillary bone from embryonic frontonasal ectomesenchyme cells in mice and confirm the evolutionary homology of the premaxilla across amniotes.

Orofacial myofunctional therapy (OMT) is one of the therapeutic methods for neuromuscular re-education and has been considered as one of the auxiliary methods for obstructive sleep apnea hypopnea syndrome (OSAHS) and orthodontic treatment. There is a dearth of comprehensive analysis of OMT\'s effects on muscle morphology and function. This systematic review examines the literature on the craniomaxillofacial effects of OMT in children with OSAHS. This systematic analysis was carried out using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) standards, and the research was scanned using PICO principles. A total of 1776 articles were retrieved within a limited time, with 146 papers accepted for full-text perusing following preliminary inspection and 9 of those ultimately included in the qualitative analysis. Three studies were rated as having a severe bias risk, and five studies were rated as having a moderate bias risk. Improvement in craniofacial function or morphology was observed in most of the 693 children. OMT can improve the function or morphology of the craniofacial surface of children with OSAHS, and its effect becomes more significant as the duration of the intervention increases and compliance improves. In the majority of the 693 infants, improvements in craniofacial function or morphology were seen. The function or morphology of a kid\'s craniofacial surface can be improved with OMT, and as the duration of the intervention lengthens and compliance rises, the impact becomes more pronounced.

Rationale: Craniofacial and pharyngeal morphology influences risk for obstructive sleep apnea (OSA). Quantitative photography provides phenotypic information about these anatomical factors and is feasible in large samples. However, whether associations between morphology and OSA severity differ among populations is unknown. Objectives: The aim of this study was to examine this question in a large sample encompassing people from different ancestral backgrounds. Methods: Participants in SAGIC (Sleep Apnea Global Interdisciplinary Consortium) with genotyping data were included (N = 2,393). Associations between photography-based measures and OSA severity were assessed using linear regression, controlling for age, sex, body mass index, and genetic ancestry. Subgroups (on the basis of 1000 Genomes reference populations) were identified: European (EUR), East Asian, American, South Asian, and African (AFR). Interaction tests were used to assess if genetically determined ancestry group modified these relationships. Results: Cluster analysis of genetic ancestry proportions identified four ancestrally defined groups: East Asia (48.3%), EUR (33.6%), admixed (11.7%; 46% EUR, 27% Americas, and 22% AFR), and AFR (6.4%). Multiple anatomical traits were associated with more severe OSA independent of ancestry, including larger cervicomental angle (standardized β [95% confidence interval (CI)] = 0.11 [0.06-0.16]; P < 0.001), mandibular width (standardized β [95% CI] = 0.15 [0.10-0.20]; P < 0.001), and tongue thickness (standardized β [95% CI] = 0.06 [0.02-0.10]; P = 0.001) and smaller airway width (standardized β [95% CI] = -0.08 [-0.15 to -0.002]; P = 0.043). Other traits, including maxillary and mandibular depth angles and lower face height, demonstrated different associations with OSA severity on the basis of ancestrally defined subgroups. Conclusions: We confirm that multiple facial and intraoral photographic measurements are associated with OSA severity independent of ancestral background, whereas others differ in their associations among the ancestrally defined subgroups.

Intrathecal targeted drug delivery provides effective relief for cancer-related pain. However, its validation in management of craniofacial pain remains much less widely practiced, mainly due to the localized diffusion of analgesic agent with current approach. Here, we report our experience of prepontine cisternal routine for placement and implantation of intrathecal targeted drug delivery in two cases of cancer-related craniofacial pain. Lumbar cannulation was applied and the intrathecal catheter tip was positioned at the prepontine cistern under fluoroscopic guidance during the surgical implantation. Postoperative imaging confirmed that the catheter tip was successfully placed in the prepontine cisternal space. Satisfactory control of pain was achieved after intrathecal therapy, with significant reduction of background and breakthrough cancer pain. None obvious complications were observed in this study. Thus, our novel intrathecal routine may provide an alternative option for craniofacial pain caused by tumor, who were insufficiently treated by oral analgesic agents.

We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a hitherto undescribed class of patients with unique craniofacial developmental defects. The nine unrelated patients represent unilateral soft palate hypoplasia, lost part of the sphenoid bone in the pterygoid process, but the uvula developed completely. Interestingly, these clinical features are contrary to the palate\'s anterior-posterior (A-P) developmental direction. Based on developmental characteristics, we suggested that these cases correspond to a novel craniofacial birth defect different from cleft palate, and we named it soft palate dysplasia (SPD). However, little is known about the molecular mechanism of the ADAMTS2 and TBX15 genes in the regulation of soft palate development. Phylogenetic analysis showed that the sequences around these de novo mutation sites are conserved between species. Through cellular co-transfections and chromatin immunoprecipitation assays, we demonstrate that TBX15 binds to the promoter regions of the ADAMTS2 gene and activates the promoter activity. Furthermore, we show that TBX15 and ADAMTS2 are colocalization in the posterior palatal mesenchymal cells during soft palate development in E13.5 mice embryos. Based on these data, we propose that the disruption of the TBX15-ADAMTS2 signaling pathway during embryogenesis leads to a novel SPD.

暂无摘要。

The aim of this study was to apply an augmented reality (AR) navigation technique based on a head- mounted display in the treatment of craniofacial fibrous dysplasia and to explore the feasibility and the value of AR in craniofacial surgery. With preoperative planning and three-dimensional simulation, the normal anatomical contours of the deformed area were recreated by superimposing the unaffected side on to the affected side. We completed the recontouring procedures in real time with the aid of an AR navigation system. The surgical outcome was assessed by superimposing the postoperative computed tomographic images on to the preoperative virtual plan. The preparation and operation times were recorded. With intraoperative AR guidance, facial bone recontouring was performed uneventfully in all cases. The mean (SD) discrepancy between the actual surgical reduction and preoperative planning was 1.036 (0.081) mm (range: 0.913 (0.496) to 1.165 (0.498) mm). The operation time ranged from 50 to 80 minutes, with an average of 66.4 minutes. The preoperative preparation time ranged from 26 to 36 minutes, with a mean of 29.6 minutes. AR navigation-assisted facial bone recontouring is a valuable treatment modality in managing craniomaxillofacial fibrous dysplasia and shows benefits in improving the efficiency and safety of this complicated procedure.

暂无摘要。

The rostral ventromedial medulla (RVM) plays a key role in the endogenous modulation of nociceptive transmission in the central nervous system (CNS). The primary aim of this study was to examine whether the activities of RVM neurons were related to craniofacial nociceptive behaviour (jaw-motor response, JMR) as well as the tail-flick response (TF). The activities of RVM neurons and TF and JMR evoked by noxious heating of the tail or perioral skin were recorded simultaneously in lightly anaesthetized rats. Tail or perioral heating evoked the TF and JMR, and the latency of the JMR was significantly shorter (P < 0.001) than that of the TF. Of 89 neurons recorded in RVM, 40 were classified as ON-cells, 27 as OFF-cells, and 22 as NEUTRAL-cells based on their responsiveness to heating of the tail. Heating at either site caused an increase in ON-cell and decrease in OFF-cell activity before the occurrence of the TF and JMR, but did not alter the activity of NEUTRAL cells. Likewise, noxious stimulation of the temporomandibular joint had similar effects on RVM neurons. These findings reveal that the JMR is a measure of the excitability of trigeminal and spinal nociceptive circuits in the CNS, and that the JMR as well as TF can be used for studying processes related to descending modulation of pain. The findings also support the view that RVM ON- and OFF-cells play an important role in the elaboration of diverse nociceptive behaviours evoked by noxious stimulation of widely separated regions of the body.

Objective:To investigate the clinical features of craniofacial Langerhans cell histiocytosis（LCH） in children. Method:The clinical data of 11 children with craniofacial LCH confirmed by surgical histopathology were analyzed retrospectively, and their clinical characteristics were compared. Result:Eleven children with craniofacial LCH had a history of misdiagnosis and mistreatment. There were 10 cases aged 1-4 years. 9 cases of LCH occurred in the temporal bone with otorrhea and moderate to severe hearing loss, while 6 cases were binaural involvement. CT of the primary lesions in 7 children showed obvious extensive bone destruction. 2 cases died（both with multiple dangerous organs involved） and 8 cases survived. Conclusion:The craniofacial LCH in children mainly occurs in children under 4 years old, Most of the temporal bone LCH is involved in both ears with otorrhea and severe hearing loss. There is a high rate of misdiagnosis in clinical work due to lack of specific clinical symptoms. Imaging examinations and systemic examinations have important diagnostic value. The cases with dangerous organs involved have a higher mortality rate, while chemotherapy has better clinical effect for children with localized lesions.
目的：探讨儿童颅面部朗格汉斯细胞组织细胞增生症（LCH）的临床特点。 方法：回顾性分析11例经手术组织病理证实为颅面部LCH患儿的临床资料，分析其临床特点。 结果：11例颅面部LCH患儿均有门诊误诊误治病史。10例发病年龄为1～4岁。9例发生于颞骨的LCH均有耳漏及中度至极重度的听力损失，6例为双耳受累。7例患儿的原发灶部位的局部CT有明显的较大范围骨质破坏。死亡2例（均为多发危险器官受累患儿），存活8例，失访1例。 结论：儿童颅面部LCH主要发生于4岁以内儿童，颞骨LCH多为双耳受累，多有耳漏及严重的听力损失，由于局部的临床症状多不具有特异性，临床工作中有较高的误诊率，影像学检查及全身系统检查具有重要的诊断价值，危险器官受累患儿死亡率较高，化疗对病灶局限的患儿有较好的临床效果。.