Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report.

BACKGROUND: Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients' lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities. CASE PRESENTATION: Here, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient's dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life. CONCLUSIONS: ARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND.

Mineralized Supramolecular Hydrogels Bearing Tunable Thermo-Responsiveness.

Although a variety of biomimetic mineralized materials have been created in the lab, the vast majority of these manmade examples lack response to external stimuli. Here, mineralized supramolecular hydrogels with on-demand thermo-responsiveness that are formed by a simple, physical crosslinking between amorphous CaCO3 (ACC) nanoparticles and poly(acrylic acid) (PAA) are reported. Upon the addition of Na2 CO3 solution into a mixture composed of PAA and CaCl2 , amorphous ACC nanoparticles are formed in situ and simultaneously crosslinked by PAA chains, giving rise to the mineralized hydrogels. Interestingly, upon tuning the content of the formed ACC, hydrogels with different types of thermo-responsiveness can be easily obtained, and the transparencies of the resulting hydrogels are dramatically changed during the temperature-driven phase transitions. As an application, these thermo-responsive mineralized hydrogels are used to control the exposure of UV light, which is successfully applied to switch fluorescent signals in response to temperature.

Assessing the Quality of Life in Patients With Dentofacial Deformities Before and After Orthognathic Surgery.

PURPOSE: This study aimed to assess the effect of health-related quality of life (QoL) among patients with dentofacial deformities who underwent orthognathic surgery compared with a control group without dentofacial deformities by use of generic oral health and condition-specific approaches. PATIENTS AND METHODS: In this prospective study, 2 questionnaires were administered to 85 patients (31 male and 54 female patients) who were evaluated before undergoing orthognathic surgery. The Short Form Oral Health Impact Profile Questionnaire (OHIP-14) and the Orthognathic Quality of Life Questionnaire (OQLQ) were administered before and 5 to 7 months after orthognathic surgery. The control group comprised 96 young university student volunteers without dentofacial deformities. RESULTS: The questionnaires were collected 5 to 7 months after surgery. The preoperative scores of the patients and the control group were contrasted separately. The respondents' postoperative OHIP-14 and OQLQ scores were significantly lower (P < .001 for total scores). The preoperative OQLQ scores for all domains were significantly higher among the patients than among the controls (P < .001 for total scores), whereas the total scores and 3 subscale scores of the OHIP-14 in the functional and psychological domains were significantly higher among the patients than among the controls (P < .05 for total scores). The preoperative and postoperative OQLQ total scores were remarkably different between male and female patients (P < .05). The postoperative OQLQ total scores were considerably higher in older patients than in younger patients (P < .05). All patients in the Class III group who underwent double-jaw surgery showed remarkable changes after surgery (P < .001 for total scores). CONCLUSIONS: Patients with dentofacial deformities had a poorer QoL compared with the healthy population, especially in functional and psychological aspects. Orthognathic surgery had a significant positive impact on QoL. Patients with Class III malocclusion who underwent double-jaw surgery seemingly benefitted the most after surgery.

A digital workflow to predict facial aesthetics in patients with maxillofacial trauma with implant retained prostheses.

Purpose To introduce a digital workflow for the prediction of facial aesthetics, especially in patients with dentation deformity caused by maxillofacial trauma.Methods Cone-beam computed tomography (CBCT) and three-dimensional facial scans of patients with radiographic prostheses were collected. The aforementioned data were uploaded to ProPlan CMF software and merged to generate a virtual patient with craniofacial hard tissue, realistic facial soft tissue, and remaining dentition. The radiographic prostheses were scanned to form a digital cast, which was fitted with its CBCT image to create the virtual prostheses. Postoperative facial soft tissue was simulated according to the movement of the virtual prostheses. An appropriate virtual diagnostic prosthesis plan was selected by the patient and dentist. Subsequently, prosthetically driven implant guide and restoration were designed and fabricated.Conclusions A virtual patient was successfully constructed. A 4-mm protrusion of the virtual prosthesis was chosen. Subsequently, implant surgery was performed, and dental prostheses were fabricated based on this location. The fusion of the postoperative facial scan and preoperative facial prediction was found to be coincident. This technique can effectively predict facial aesthetic features of patients with maxillofacial trauma, facilitate communication with patients, reduce chairside time, and guide the multidisciplinary design of implant placement and restoration fabrication.

Regeneration and reuse of salt-tolerant zwitterionic polymer fluids by simple salt/water system.

Highly-efficient separation of adsorbent and pollutant from chemical sludge is urgent for the recycled materials and chemical resources and minimization of sludge production in industry. Herein, an effortless and cost-efficient salt/water system is developed for efficient zwitterionic polymer/dye separation from chemical sludge. To achieve this aim, a novel salt-tolerant zwitterionic polymer (STZP) is synthesized through etherifying 2-chloro-4,6-bis(4-carboxyphenyl amino)-1,3,5-triazine onto corn starch. It is found that "all-surface-area" adsorption of dye can be achieved by in-situ sol-gel transition of STZP. Spent polymer fluid and solid-state dye can be easily regenerated and separated from sewage sludge by a simple salt/water system. At a high NaCl concentration (225 g/L), the separation factor between zwitterionic polymer and dye is up to 50.4, which is 50 times larger than that of salt-free solution. More importantly, the regenerated polymer fluids exhibit an outstanding reusability ability and can maintain over 92.8% decoloration efficiency for dyeing effluent after multiple adsorption-desorption cycles. This study thus provides a technically feasible and economically acceptable strategy for the recycling and reuse of polymer from hazardous textile sludge waste, greatly promising to achieve zero emissions toward conventional adsorption units.

Facial changes in patients with skeletal class III deformity after bimaxillary surgery: an evaluation based on three-dimensional photographs registered with computed tomography.

The objective of this study was to evaluate facial soft and hard tissue changes, individually and relative to each other, in patients with skeletal class III deformity after bimaxillary surgery using three-dimensional (3D) photos obtained by white light scanning. Thirty patients with skeletal class III deformity who underwent bimaxillary surgery were selected. Each patient underwent white light scanning and spiral computed tomography (CT) within two weeks before (T0) and six months after surgery (T1). The 3D photos were registered with CT soft tissue models for T0 and T1, and the skeletal area unaffected by treatment (cranial base) was used to register T0 and T1. Then, the 3D colour-coded map was analysed to assess both skeletal and soft tissue changes between T0 and T1. Changes in the 3D coordinates of each anatomical landmark were analysed using the Student's t-test. Maxillary advancement by 2-3 mm and mandibular recession by 5-6 mm were observed; the mandible was shortened in the vertical direction. Compared with the preoperative values, the nasal columella was 0.51 mm shorter, the upper lip was 0.71 mm longer, the base of the alar cartilage was 1.38 mm wider, and the nasolabial angle became larger. The ratio of change in the position of soft tissue point Sn to hard tissue point A was 0.73:1, and that of soft tissue point Pg to hard tissue point Pog was 0.86:1. Images obtained by structured white light scanning registered with CT can be used as an alternative to study facial changes after orthognathic surgery.

[Three-dimensional study of facial soft tissue changes in patients with skeletal Class â ¢ malocclusion before and after orthognathic surgery].

Objective: To investigate the changes of facial soft tissue before and after orthognathic surgery in patients with skeletal Class Ⅲ malocclusion. Methods: Between August 2016 and April 2017, 30 patients with skeletal Class Ⅲ malocclusion who underwent maxillary LeFort Ⅰ osteotomy and sagittal split mandible osteotomy were selected as study subjects. Among them, 11 were male and 19 were female with an average age of 22.6 years (range, 18-35 years). Full head CT scan and facial soft tissue three-dimensional image scan were performed within 2 weeks before surgery and at 6 months after surgery. A three-dimensional facial image model was established using Artec Studio 11.0 and CMF Proplan 3.0 software to analyze the facial soft tissue changes before and after surgery. The soft tissue anatomical landmarks in each area of the face were measured and compared before and after surgery. Results: The area of facial soft tissue change after surgery was the maxillary nose and the lower jaw area, and the two sides did not exceed the vertical boundary of the outer canthus. After surgery, the horizontal points of bilateral alar bases and bilateral cheeks changed significantly ( P<0.05). The sagittal points of subnasale, pronasale, bilateral alar bases, upper lip margin significantly forwarded ( P<0.05); the sagittal points of the bilateral cheilions, lower lip margin, midpoint of chin-lip groove, pogonion, and menton significantly backwarded ( P<0.05). The vertical points of the upper lip margin, bilateral cheilions, lower lip margin, bilateral cheeks, and bilateral inner canthus points significantly descended ( P<0.05), and the vertical point of the menton significantly elevated ( P<0.05). After surgery, the nasal column was significantly shortened, the upper lip got longer and the alar base widened when compared with those before surgery ( P<0.05). Conclusion: The overall change of face after double jaw surgery is shorter and fuller, and the mandible of facial soft tissue change is larger than that of maxillary, which suggests that the postoperative facial changes should be taken into account in the surgical design.