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Common variants in interferon regulatory factor 6 ( IRF6) have been associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) as well as with tooth agenesis (TA). These variants contribute a small risk towards the 2 congenital conditions and explain only a small percentage of heritability. On the other hand, many IRF6 mutations are known to be a monogenic cause of disease for syndromic orofacial clefting (OFC). We hypothesize that IRF6 mutations in some rare instances could also cause nonsyndromic OFC. To find novel rare variants in IRF6 responsible for nonsyndromic OFC and TA, we performed targeted multiplex sequencing using molecular inversion probes (MIPs) in 1,072 OFC patients, 67 TA patients, and 706 controls. We identified 3 potentially pathogenic de novo mutations in OFC patients. In addition, 3 rare missense variants were identified, for which pathogenicity could not unequivocally be shown, as all variants were either inherited from an unaffected parent or the parental DNA was not available. Retrospective investigation of the patients with these variants revealed the presence of lip pits in one of the patients with a de novo mutation suggesting a Van der Woude syndrome (VWS) phenotype, whereas, in other patients, no lip pits were identified. [ABSTRACT FROM AUTHOR]

Objectives: The present study aims to quantitatively assess secondary alveolar bone graft (SABG) resorption in unilateral cleft lip, alveolus and palate (UCLAP) patients in a 2-3 year longitudinal follow-up setting by using a validated 3D protocol. Furthermore, the potential relation of SABG resorption with maxillary canine position and a number of patient-related factors was investigated., Methods: UCLAP patients who underwent SABG and had good quality CBCT images at the following timepoints were included in the study: pre-operative (T0), immediate (T1), 6 months (T2) and either 1-2 years (T3) or 2-3 years (T4) post-operative. The final bone grafted region was defined on the T1 scans and refined in the registered T0 scans. The bone graft after resorption was determined by applying threshold-based segmentation on the registered T2, T3 or T4 scans within the segmented bone graft volume. The position of the canines was determined at every timepoint at the cleft and non-cleft side., Results: Forty-five UCLAP patients (mean age 9.0 ± 1.3 years) were included. In the first 6 months after SABG, 43.6% bone resorption was recorded. 2-3 years post-operative, 56% bone resorption was found if the maxillary canine was not yet erupted and 42.7% if it erupted through the graft. The vertical position of the canines was significantly higher on the cleft side at T3., Conclusions: The present study reports significant SABG resorption over time. However, no correlation was found between SABG resorption and canine position, nor between other patient-related factors., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Objective: The aim of the study was to propose and validate a method for three-dimensional (3D) quantitative assessment of secondary alveolar bone grafting (SABG) and its stability in time for patients with unilateral cleft lip and palate (UCLP)., Settings and Sample Population: Ten non-syndromic UCLP patients (9 males and 1 female with a mean age of 9.5 ± 0.9 years) undergoing SABG with good quality preoperative, immediate postoperative (6 weeks) and 6 months postoperative Cone Beam Computed Tomography (CBCT) scans were selected., Materials and Methods: The preoperative and 6 months postoperative scans were registered onto the immediate postoperative scan. The bone-grafted region was defined on the immediate postoperative scan and refined on the registered preoperative scan resulting in a 3D volume. The residual bone graft was calculated by applying threshold based segmentation on the registered 6 months postoperative scan within the segmented bone graft volume of the previous step. Inter and intra observer tests using intra-class correlation coefficient (ICC) were applied comparing the volumes of the 3D models., Results: An excellent reliability was found for inter and intra observers with ICC ≥ 0.95., Conclusions: The presented method proved to be reliable for volumetric assessment of the alveolar bone graft in UCLP patients, as well as to assess the percentage of bone resorption during follow-up., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Objective: The aim of this study was to propose and validate a three-dimensional (3D) methodology for the assessment of canine eruption in patients born with unilateral cleft lip and palate (UCLP) following secondary alveolar bone graft (SABG)., Methods and Materials: A total of 10 patients (four females, six males; mean age: 8.8 years) with UCLP who underwent SABG were recruited. Pre- and 6-month post-operative cone-beam computed tomography (CBCT) was acquired for all patients. Post-operative data was registered onto pre-operative data utilizing voxel-based registration. Following superimposition, a segmentation process was applied to segment maxillary canine on both cleft and non-cleft side. Thereafter, translational and rotational changes in canine position were assessed for both cleft and non-cleft side by two observers., Results: The intra-class correlation coefficient (ICC) indicated excellent reliability (≥0.90) with inter and intra-observer error of less than 0.05 mm. The overall ICC was found to be high for assessing both translational and rotational changes. The mean absolute inter- and intra-observer difference for translational and rotational changes was found to be less than 1 mm and 3°., Conclusion: The present method was found to be reliable proving to be clinically applicable for assessing maxillary canine eruption changes in both cleft and non-cleft bone., (© 2021 The Authors. Clinical and Experimental Dental Research published by John Wiley & Sons Ltd.)

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 ( p -value of the lead SNV: 4.17 × 10 -7 ). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology.

Introduction: Cardiothoracic surgery with a median sternotomy is an electing factor for the development of a hypertrophic scar. Hypertrophic scars, characterized by an increased vascularity, often result in aesthetic and functional problems. Smoking, due to its negative effects on vascularization, could therefore have an effect on scar healing., Objective: A prospective cohort study was conducted to evaluate the effect of smoking on scar healing after cardiothoracic surgery with a median sternotomy incision., Materials and Methods: One hundred patients who underwent cardiac surgery with a median sternotomy were divided into 3 groups: smokers, ex-smokers, and nonsmokers. Erythema values of the scar were measured with a colorimeter on 3 standardized parts of the scar. Scar evaluation was performed at 6 weeks, 3 months, 6 months, and 12 months after surgery., Results: During 1 year, a total of 90 patients were followed after a median sternotomy; 10 patients were lost to follow-up. There were 23 smokers, 52 ex-smokers, and 15 nonsmokers with an overall mean age of 61.5 ± 8.83 years. No significant difference in redness as a parameter for hypertrophic scarring was observed between the 3 groups. Nevertheless, a trend in favor of the smokers was seen, as they developed less hyperemic scars. The caudal part of the scar showed a significantly higher incidence of hypertrophy compared with the middle and cranial part of the scar at all time points., Conclusions: It is presumed that a large sample size with younger patients is needed to confirm the results herein. Furthermore, more caudally located skin, especially the subxiphoidal part, is prone to hypertrophic scarring and should, for that reason, be avoided in the incision.

The aim of this study is to evaluate the incidence of ophthalmic complications following midfacial fractures and investigate its relation to surgical or nonsurgical treatment. This article is a retrospective study, describing the spectrum and incidence of ophthalmic injury in 106 patients presenting with midfacial fractures at the Department of Oral and Maxillofacial Surgery of the University Hospitals Leuven over a period of 16 months (January 2013 to April 2014). The mean age of the patients was 45.6 years with a gender distribution of 68 men and 38 women. The main cause of trauma was road traffic accidents. Forty-one patients suffered an ophthalmic injury following the fracture. Twelve of them had a persistent ophthalmic problem. Ophthalmic examination is necessary during the initial management. The time window for preservation of sight is small and treatment should be started immediately. Development of an emergency trauma scale that includes fractures, symptoms of visual impairment, and patient history is recommended and should stimulate a multidisciplinary approach of complex cases.

Purpose: The aim of this study was to review the indications for implant placement, early outcomes, and associated risk factors., Materials and Methods: A retrospective cohort study design was used. The study was composed of a group of 509 consecutive patients, which represented the total number of patients treated from 2012 to 2014 in the Department of Oral and Maxillofacial Surgery, University Hospitals Leuven, Belgium. The authors analyzed the indications for implant placement and the potential risk factors for early implant failure., Results: A total of 509 patients received 1,139 dental implants. The group consisted of 240 men and 269 women, with a median age of 58 years. The most frequent indication for implant placement was restoration of a partially edentulous arch (80.1%, n = 408). For 152 implants (13.3%), additional bone-augmentation or sinus elevation procedures were required. Early failures were recorded for 52 (4.6%) implants in 33 patients (6.5%). Smoking, male gender, total edentulism, implant diameter, and bone augmentation surgery were found to be associated with early implant failure., Conclusion: Patients referred for implant placement were more likely to be partially edentulous and older than 50 years. Singletooth replacement in the posterior mandible was the most frequent indication (24.4%) for treatment. This study found an early success rate of 95.4% and identified risk factors for early failures.

Septic arthritis of the temporomandibular joint as a complication of acute otitis media is rare in the Western world. This report describes the case of a 7-year-old boy who had pain in his right ear and limited mouth opening, following the onset of acute otitis media. A contrast-enhanced computed tomography scan revealed right-sided mastoiditis and hydrops of the right temporomandibular joint, suggesting septic arthritis. Real-time PCR and microbiologic analysis identified Streptococcus pyogenes and Staphylococcus epidermidis in the joint aspirate. Treatment with arthrocentesis and antibiotics led to full recovery of temporomandibular joint function.

Metastatic salivary gland carcinoma is a rare malignancy. A subset of these tumors overexpresses the human epidermal growth factor receptor 2 (HER-2), which is considered a poor prognostic marker. Targeted therapy with the monoclonal antibody trastuzumab can be a treatment option in these patients. We describe six cases of metastatic salivary gland carcinoma treated with trastuzumab in combination with a taxane. Three of these patients had salivary duct cancer, two had mucoepidermoid carcinoma and one patient was treated for acinic cell carcinoma. The therapy was well tolerated. We observed five partial responses and a median progression free survival of 10.8 months, which compares favorably with the reported outcome of combination chemotherapy. One patient achieved a complete and durable remission. When HER-2 and androgen receptor were co-expressed, trastuzumab-based treatment appeared to be more active than androgen deprivation in our experience.

Objectives: This study investigated the prevalence of human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma (OPSCC) and compared patient profiles and outcomes between HPV-positive and HPV-negative groups., Study Design: This retrospective study included all patients treated for OPSCC in the University Hospitals of Leuven between 2004 and 2012. Paraffin-embedded tumor tissue was available for all patients. Patient characteristics, treatment, and follow-up data were retrieved from medical files. HPV status was determined by immunohistochemical staining for the p16 epitope., Results: Among 94 patients, the prevalence of HPV-positive OPSCC was 22.34%. Compared with HPV-negative tumors, HPV-positive tumors were correlated with less smoking and alcohol consumption, tonsillar sublocalization (P < .05), and younger age. HPV-positive OPSCC was associated with better overall survival (62.2%) compared with HPV-negative OPSCC (42.5%; P = .0588)., Conclusions: Among patients with OPSCC, those with HPV exhibited profiles different from those without HPV. HPV-positive OPSCC was associated with better overall survival compared with HPV-negative OPSCC. HPV-positive OPSCC prevalence increased over time., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: To report a rare presentation of an ameloblastoma mimicking an endo-periodontal lesion., Materials and Methods: In this case report, we present the unusual clinical course of a 78-year-old Caucasian male patient, seeking single tooth implant rehabilitation at location 42 (lower right lateral incisor), initially unsuccessfully treated at different clinics for a persistent endo-periodontal lesion associated with this tooth, by both an endodontist and a periodontologist, which finally lead to tooth loss., Results: CBCT imaging of the anterior mandible region revealed a persistent radiolucency and subsequent enucleation of the lesion in the partially healed extraction socket revealed the true underlying diagnosis: a solid follicular ameloblastoma. A re-entry with biopsy was planned after radiological confirmation of lesion growth 1 year later, reconfirming the diagnosis and necessitating partial segment resection of the mandible., Conclusions: In the presence of lesions refractory to therapy, consideration towards a broader differential diagnosis and an appropriate investigation should be undertaken before the decision on implant placement.

Cleft lip and/or palate (CL/P) is one of the most frequent congenital malformations, with a frequency of 1 in 700 live births. Non-syndromic orofacial clefting is a multifactorial condition, with both a genetic and an environmental component. Although numerous studies have been published addressing the genetic etiology of CL/P, this factor remains incompletely understood. A promising approach to find candidate gene regions for CL/P is the investigation of endophenotypes, which are characteristics associated with a certain condition and that can be an expression of underlying susceptibility genes. This review focuses on the known facial endophenotypes in CL/P (such as distortion of the orbicularis oris muscle and facial features in non-affected relatives of patients with CL/P) and genes that could be associated with these characteristics. Possibilities for further endophenotype-related studies in the field of non-syndromic CL/P are discussed.

Objective: The aim of this study in goats was to test the hypothesis that a novel synthetic bone substitute beta tricalcium phosphate (β-TCP) can work as well as autologous bone harvested from the iliac crest for grafting and repair of alveolar clefts., Design: Ten adult Dutch milk goats (Capra hircus) were used in a split-mouth study design., Main Outcome Measures: Volumetric histologic assessment of new bone formation and radiographic measurement of orthodontic movement of teeth in a formerly created alveolar cleft., Conclusions: The synthetic bone substitute β-TCP was shown to result in bone healing similar to that of iliac crest bone. The surgical, orthodontic, and histologic results now warrant the testing of β-TCP in the human cleft situation.