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The fibula free flap (FFF) has been a workhorse in maxillofacial reconstruction. High success rates of this technique are reported. However, identifying risk factors for flap failure and analyzing complications can open the way to better patient care. A retrospective analysis was conducted of all FFFs performed over a 20-year period at a low-volume single tertiary center to identify risk factors and postoperative complications. A total of 129 FFFs were included (122 mandible, 7 maxilla). Complete flap failure occurred in 12.4% and partial flap failure in 7.8% of patients. A significant relation was found between younger age and flap failure, and most failures were associated with venous thrombosis. In-hospital surgical complications occurred in 60.5%, in-hospital medical complications in 49.6%, and out-of-hospital complications in 77.5% of patients. The in-hospital reintervention rate was 27.1%, and including salvaged flaps, flap survival rate was 87.6%. Osteomyocutaneous FFF failure (complete 12.4%; partial 7.8%) is an important clinical reality in a low-volume head and neck reconstruction center resulting in an in-hospital reintervention rate of 27.1%. Postoperative complications are frequent, both surgical and out-hospital complications. These results provide a better understanding of the limitations of the FFF in a low-volume center and can be used to optimize care in this kind of setting.

Contains fulltext : 204872.pdf (Publisher’s version ) (Open Access) We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls using molecular inversion probes (MIPs). We identified partial deletions of TP63 in individuals from three families affected with OFC. In the OFC cohort, we identified several TP63 variants predicting to cause loss-of-function alleles, including a frameshift variant c.569_576del (p.(Ala190Aspfs*5)) and a nonsense variant c.997C>T (p.(Gln333*)) that introduces a premature stop codon in the DNA-binding domain. In addition, we identified the first missense variants in the oligomerization domain c.1213G>A (p.(Val405Met)), which occurred in individuals with OFC. This variant was shown to abrogate oligomerization of mutant p63 protein into oligomeric complexes, and therefore likely represents a loss-of-function allele rather than a dominant-negative. All of these variants were inherited from an unaffected parent, suggesting reduced penetrance of such loss-of-function alleles. Our data indicate that loss-of-function alleles in TP63 can also give rise to OFC as the main phenotype. We have uncovered the dosage-dependent functions of p63, which were previously rejected.

Cementoblastomas are rare benign tumours that represent less than 1% of all odontogenic tumours. Complete resection is mandatory to avoid recurrence. This case report describes the contribution of three-dimensional imaging and three-dimensional printing in the pre-operative surgical planning of a large cementoblastoma that not only caused substantial compression on the inferior alveolar and mental nerves, but also caused thinning and partial erosion of the lingual and vestibular cortical bone, thus increasing the risk of pre-operative mandibular fracture. ispartof: BJR CASE REPORTS vol:7 issue:3 ispartof: location:England status: published

Fatigue fracture of titanium alloys fabricated by Selective Laser Melting (SLM) in engineering has been studied in recent years, but an underlying understanding of the in-vivo fatigue fracture of SLM-fabricated titanium patient-specific implants (PSIs) is rarely revealed due to the complex in-vivo biomechanical behaviour and biological environment combined. This paper provides a multidimensional and comprehensive analysis of the in-vivo fatigue failure mechanism of an SLM-fabricated Ti6Al4V mandible reconstruction plate, by macro-scaled Finite Element Analysis (FEA) of biomechanical behaviours, static force analysis and micro-scaled metallurgical investigation. FEA indicates maximal tensile stress of 392.6 MPa locally on the implant with high stress gradients around. Although the theoretical stress is far below the fatigue strength of SLM-fabricated Ti6Al4V material, indicating low potential of plate failure, the site with maximal stress and high stress gradients successfully determine the failure route of the plate, which coincides with the factual crack growth mode on the plate. The followed analysis of stress and force conditions theoretically confirms the failure condition on the implant. Metallurgical investigations further show β and α/α’ phases and tiny pores at implant (sub)surface, together with typical features (striations, cleavage facets and dimples) of metal fatigue failure in fractography analysis. Taken together these can conclude that the fatigue crack initiates from the implant surface subjected to surface defects and maximal stress caused by implant design, and propagates radially, showing a combined brittle/ductile fracture mode. The process is synergistically influenced by Ca/P/O deposits and hydrogen embrittlement under the biological environment. Practical measures for the improvement of in-vivo fatigue life of implants are finally provided.

We performed a retrospective cohort study of patients included in the database of the department of Oral & Maxillo-Facial Surgery between 2006 and 2016 at the University Hospitals Leuven with Parry Romberg syndrome to assess and compare initial presentation, diagnostic methods, and different surgical and non-surgical approaches. Primary outcomes were functional and esthetic results using intra- and extra-oral images, clinical orthognathic measurements, radiological cephalograms, and cone beam computed tomography, including three-dimensional cephalometry analyzing the facial symmetry of hard tissues. The secondary outcome was patient quality of life using the Ferrans and Powers Generic Quality of Life Index. Ten patients were included; two had medical treatment, three had reconstructive surgery, four had orthognathic surgery, and three had lipofilling. Two patients had post-surgical infectious complications. Two patients developed neuropathic pain. Three-dimensional cephalometry showed no significant difference with regards to anatomical bony landmarks between the affected and non-affected sides. A volumetric analysis showed a significant difference (P=0.04) in maxillary volumes. Seven patients were satisfied with their aesthetic and functional outcomes. Mean follow up was eleven years. In conclusion, this study should be interpreted carefully due to small sample size. We feel most patients can be treated conservatively or with minor aesthetic corrections using fat grafting methods. Use of allografts and osteosynthesis materials was associated with an increased risk of postoperative superinfection. Fat grafts produced predictable, noncomplicated results and can be used during disease progression. Three-dimensional analysis showed acceptable symmetry of the bony framework on follow-up. Keywords: Parry Romberg syndrome, Hemifacial atrophy, Facial muscular wasting, Facial scleroderma, Facial lipodystrophy

Introduction: The aim was to determine the efficacy of an extraction policy designed to prevent osteoradionecrosis (ORN) in dentate areas of the jaw after intensity-modulated radiotherapy (IMRT). A secondary aim was to establish whether our extraction policy risked unnecessary tooth extractions for areas designated to be not-at-risk of ORN. Methodology: Data were retrospectively collected from 100 oral cancer patients, including the fate of 1430 individual teeth, from diagnosis to follow-up. Results: Eight percent of IMRT-treated patients developed ORN; spontaneous cases (5) outnumbered those provoked by dental issues (3). All cases of ORN arose in regions irradiated with > 60 Gy, with the posterior mandible as preferred location, with non-spontaneous cases primarily due to progressive periodontitis. No correlation was found between the likelihood of extraction and cancer stage. Conclusions: A more robust extraction policy of teeth affected with periodontitis and pocket depths of 4 - 5 mm might be advocated in molar areas predicted to receive > 60 Gy. Unfortunately, our study's retrospective design precluded any detailed analyses of the underlying reasons for the 88 extractions that occurred at lower radiation dose thresholds; a more conservative approach may therefore be warranted for these low-risk areas.

Tijdens de embryonale mond- en kaakontwikkeling wordt er vormgegeven aan tal van verschillende weefsels. Dit impliceert ook de ontstaansmogelijkheid van diverse tumorale kaakpathologieen.

Oral and maxillofacial procedures can potentially injure one or more cranial nerves, leading to facial nerve palsy. Iatrogenic trauma resulting in facial twitching due to aberrant regeneration of nerve fibers is a potential consequence. However, facial twitches have a broad differential diagnosis and are seen in both benign and life-threatening neurological conditions. Few reports describe twitches like orofacial fasciculations, myokymia, or other movement disorders after maxillofacial surgery. This case series aims to raise awareness of this phenomenon by reviewing three patients with different types of facial twitches after oral and maxillofacial surgery. The literature concerning facial movement disorders and their possible etiology is discussed.

Osteonecrosis of the jaw (ONJ) is a serious adverse event of bone resorption inhibitors (BRIs), such as bisphosphonates and denosumab. Bisphosphonates and denosumab inhibit osteoclast function through different pharmacological effects and bisphosphonates are retained in bone for several months to years. Sequential treatment with bisphosphonates and denosumab might lead to an overlapping treatment effect, due to the addition of the effect of denosumab on the residual bisphosphonate effect. Therefore, the aim of our study was to investigate if switching from denosumab to bisphosphonates is associated with a higher incidence of ONJ.We retrospectively reviewed records of patients with solid tumors and bone metastases treated with denosumab after prior treatment with bisphosphonates at the University Hospitals Leuven (sequential group). Patients treated with denosumab or bisphosphonates alone were used as control groups.We identified 110 patients sequentially treated with bisphosphonates and denosumab with a median total BRI exposure of 36 months (sequential group). Median bisphosphonates exposure was 16 months and median denosumab exposure was 13 months. About 299 patients were included in the bisphosphonates control group with a median bisphosphonate exposure 19 months. About 6.7% (20/299) of patients developed ONJ. About 240 patients were included in the denosumab control group with a median denosumab exposure 17.5 months. About 10.0% of patients (24/240) developed ONJ. In the sequential group, 15.5% of patients (17/110) developed ONJ. The incidence of ONJ was 1.8% (2/110), 6.3% (6/99), 4.9% (4/82), 5.6% (3/54), and 3.4% (1/29), respectively in the first, second, third, fourth, and fifth year of BRI exposure, an ONJ-incidence similar to ONJ-incidence in the denosumab control group. In a time-to-ONJ-analysis, the curves of the sequential group and the denosumab control group were overlapping. In the sequential group, most of the ONJs occurred in the first year of denosumab exposure and in a matched control group analysis, with correction for median BRI-exposure, ONJ cases tend to occur earlier in the sequential group compared to ONJ cases in the bisphosphonates group.Cancer patients with bone metastases treated with BRIs seem to have a slightly higher risk of ONJ early after switching from bisphosphonates to denosumab compared to patients remaining on bisphosphonates. Nevertheless, based on the global ONJ-incidence, the switch from bisphosphonates to denosumab can be considered as safe as an equivalent exposure to denosumab from the start on.

The purpose of this study was to compare medication-related osteonecrosis of the jaw (MRONJ) with osteoradionecrosis (ORN). Group 1 comprised 74 MRONJ patients (93 lesions) and group 2 comprised 59 ORN patients (69 lesions). Patient characteristics, clinical presentation of the lesions, the presence of complications, and the relationship with previous dental extractions were analyzed for both groups. Significant differences were found between the groups with regard to the characteristics of the patient populations, extraction as the precipitating event, the type of initial complaint, the prevalence of pain, and the location of the lesions. In the ORN group, significantly more patients complained of pain (P=0.0108) compared with the MRONJ group. Furthermore, significantly more pathological fractures (P

OBJECTIVES: We evaluated the accuracy of computer-assisted mandibular reconstructions. PATIENTS AND METHODS: We retrospectively reviewed data for 26 patients who had mandibular reconstruction with a microvascular free fibula flap, January 2015 to June 2018. Postoperative mandible models were obtained from computed tomography scans. After registering the models to the corresponding preoperative plan, we performed comparative measurements. Patients were grouped by condylar involvement and subdivided based on number of fibular segments used for reconstruction. For each segment, we measured length and osteotomy angles. For the final postoperative outcome, we compared intercoronoid, intergonial, and anteroposterior distances and intersegmental plane shift. RESULTS: Means (SD) for deviation of each osteotomy angle and fibular segment length were 1.98° (2.98) and 1.78 mm (2.69), respectively, remaining constant across subgroups. Other mean values were as follows: intercoronoid distance deviation, 3.86 mm (range, 0.20-11.21 mm); intergonial distance deviation, 3.14 mm (range, 0.05-8.28 mm); anteroposterior distance deviation, 2.92 mm (range, 0.03-8.49 mm); and intersegmental plane shift, 11.00° (range, 2.76-24.15°). Where the condyle was preserved, the intercoronoid and intergonial deviation means differed significantly (respectively 5.02 mm and 4.88 mm, both P

Primary intraosseous squamous cell carcinoma (PIOSCC) derived from a odontogenic cyst is a rare form of odontogenic carcinoma. The incidence of carcinomas arising from odontogenic cysts is particularly uncommon and is reported to occur in 1-2 individuals for every 1,000 cases. The present case describes a 25-year-old man who was initially diagnosed with a chronically infected odontogenic cyst of the mandible. Biopsy and subsequent histology revealed the presence of squamous cell carcinoma. Therefore, neck dissection and hemimandibulectomy were performed. Ultimately, the situation in the mouth healed, though with a severe amount of scarring. Although the development of PIOSCC from an odontogenic cyst is rare, it should be included in the differential diagnosis for jaw bone radiolucency.

Nuclear protein in testis (NUT) midline carcinomas (NMC) are characterized by rearrangements of the gene NUT. In the majority of NMCs, a translocation t(15;19), resulting in a BRD4/NUT fusion gene, is present. Nuclear protein in testis midline carcinomas is a rare, but probably underdiagnosed entity due to misdiagnosis. Most cases have been reported in the mediastinum and upper aero-digestive tract. The clinical course of a NMC is extremely aggressive, in spite of intensive chemotherapy and radiotherapy, with an average survival 1 year.A 32-year-old man presented with a pre-auricular swelling on the left side. After partial parotidectomy, the diagnosis of a NMC was made based on the presence of t(15;19)(q14;p13.1) and BRD4/NUT fusion gene demonstrated by fluorescence in situ hybridization (FISH). During postoperative radiotherapy, the patient developed bone metastases for which chemotherapy consisting of cisplatine, doxorubicine and ifosfamide (PAI) was initiated with remarkable clinical and radiological improvement. Nevertheless, the response was not durable.This case illustrates that responses to chemotherapy in the palliative treatment of a t(15;19)-translocated salivary gland carcinoma are possible but not durable.

Contains fulltext : 165724.pdf (Publisher’s version ) (Open Access) PURPOSE: We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a large cohort of TA and OFC patients. METHODS: WES was performed in two unrelated patients: one with severe TA and OFC and another with severe TA only. After deleterious mutations were identified in a gene encoding low-density lipoprotein receptor-related protein 6 (LRP6), all its exons were resequenced with molecular inversion probes in 67 patients with TA, 1,072 patients with OFC, and 706 controls. RESULTS: We identified a frameshift (c.4594delG, p.Cys1532fs) and a canonical splice-site mutation (c.3398-2A>C, p.?) in LRP6, respectively, in the patient with TA and OFC and in the patient with severe TA only. The targeted resequencing showed significant enrichment of unique LRP6 variants in TA patients but not in nonsyndromic OFC patients. Of the five variants in patients with TA, two affected the canonical splice site and three were missense variants; all variants segregated with the dominant phenotype, and in one case the missense mutation occurred de novo. CONCLUSION: Mutations in LRP6 cause TA in humans.Genet Med 18 11, 1158-1162.

Purpose Derm dotting is a new method of marking skin biopsies, and it is used by dermatopathologists to identify most diagnostic tissues on a microscopic slide. This method uses nail varnish to mark specific lesions and suspected section planes, or to orient skin resections. The nail varnish is resistant to different tissue processes, discernible while cutting the tissue block, and easily recognizable under the microscope. We examined the effectiveness of derm dotting on intraoral tissues. Methods We used the derm-dotting technique on the intraoral tissues of nine patients who underwent resection of a squamous carcinoma. We also tested this method on frozen sections. Results In all cases of resected tissue, the nail varnish was visible under gross examination, traceable while cutting the tissue block, and clearly visible in the definitive sections. The dots were preserved in the frozen sections, but they were lost in half of the decalcified tissues. Conclusions Derm dotting is an inexpensive, simple method that can replace the stitching technique used by surgeons to orient specimens. The stitches have to be removed by the pathologist, therefore possibly creating an artifact in the biopsy. The varnish dots or lines can be used to orient the specimen. In addition, the dots can easily mark suspect borders or areas of interest to be examined by the pathologist, using different colors, if desired. With derm dotting, the pathologist receives a more representative slide enabling a more accurate clinicopathological correlation.

A clinicopathological review of parotid tumours treated surgically in two oral and maxillofacial surgery departments was conducted. The performance of fine needle aspiration cytology (FNAC) was also assessed. This retrospective study included 250 consecutive patients treated surgically for parotid gland-related tumours. Benign tumours (n=211, 84.4%) were more prevalent than malignancies (n=39, 15.6%). A predominance of pleomorphic adenoma (48.8%) was identified, and epithelial-myoepithelial carcinoma (3.6%) was the most common malignant tumour. Overall, the sensitivity and specificity of FNAC were 64% and 99%, respectively. Subgrouping resulted in sensitivity and specificity of 50% and 100% for clinically assisted FNAC versus, 72% and 99% for ultrasound guidance. Surgically, 31.6% underwent complete superficial parotidectomy and 28.4% underwent extracapsular dissection. Overall, facial nerve palsy was the most prevalent postoperative complication, affecting 29.2% (70/240); loss of function was transient in 21.2% (51/240) and permanent in 7.9% (19/240). Extracapsular dissection and superficial parotidectomy with facial nerve preservation were the treatments of choice when a benign tumour was suspected. Facial nerve palsy was quite frequent; treatment options however are scarce. Preoperative diagnostic workup using imaging and ultrasound-guided FNAC was essential in identifying malignancy so that surgical planning could be adapted. ispartof: INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY vol:49 issue:2 pages:149-156 ispartof: location:Denmark status: published

Objectives To review early clinical manifestations of Pierre Robin sequence (PRS) and their management during the first year of life in the University Hospitals Leuven. Methods Retrospective series of 48 patients with PRS born between 2001 and 2011 and treated at a tertiary referral hospital. Review of the current literature about management of respiratory and breathing difficulties in the early life of PRS patients. Results Of our cleft palate patients 15.3% presented with PRS. A syndrome was diagnosed in 14.6%, associated anomalies without a syndromic diagnosis in 56.3% and isolated PRS in 29.2% of the cases. Mortality rate directly related to PRS was 2.1%. Respiratory difficulties were observed in 83.3% and feeding difficulties in 95.6% of the patients. Respiratory problems were addressed in a conservative way in 75%, in a non-surgical invasive way in 42.5% and in a surgical way in 12.5%. A statistically significant relationship between the association of a syndrome or other anomalies, and a higher need for resuscitation and invasive treatment were found (chi-square test, p-values = 0.019 and 0.034). Feeding difficulties were managed conservatively in 91.3%, invasively in 80.4% and surgically in 15.2%. Conclusions PRS is frequently associated with other abnormalities or syndromes. Therefore routine screening for associated anomalies in neonates with PRS is recommendable. Respiratory and feeding complications are highly frequent and possibly severe, particularly in patients with associated anomalies or syndromes, and should be recognized and addressed appropriately in an early stage. There is a potential role for the nasopharyngeal airway in reducing the need for the more traditional surgical interventions for respiratory problems.

Background: Rhinoplasty is one of the most challenging facial plastic procedures. Although patient satisfaction is the real outcome parameter in rhinoplasty, most authors have studied objective outcomes evaluated by professionals. The purpose of this study was to determine patient satisfaction after rhinoplasty in patients born with a cleft lip compared with outcome assessment by professionals, and to assess the impact of the procedure on appearance-related distress and generic quality of life. Methods: Patient evaluation of the nose was performed before and 1 year after secondary cleft rhinoplasty (n = 33) using a visual analogue scale for nasal function and shape, and the Rhinoplasty Outcome Evaluation. General sinonasal complaints were evaluated using the Sino-Nasal Outcome Test. Appearance-related psychological distress was measured using the Derriford Appearance Scale. The Sheehan Disability Scale evaluated quality of life. Aesthetic outcome was evaluated by scoring of preoperative and postoperative photographs by two independent surgeons. Results: One year postoperatively, patients showed significantly higher visual analogue scale scores for nasal shape (p

Dog bite-related wounds seem to have become a common problem, especially when they relate to the head and neck region. According to Overall and Love, up to 18 per 1,000 people sustain a dog bite every year, of whom 3 need medical attention. Approximately 1 to 2% of bite injuries require hospitalization of the victims. Most of the lacerations are found in the upper lip and the nose regions and they are classified according to severity and concomitant damage to other organs. Bite wounds are considered “dirty” wounds and are prone to infection. When dealing with bite wounds, there is always an indication for antibiotic treatment. Broad-spectrum antibiotics like amoxicillin-clavulanate and/or moxifloxacin cover most of the pathogenic flora and should be administered in every bite wound case at risk of infection. This article would like to present a medical record review: a retrospective analysis of all bite wounds sustained in the head and neck region, treated at the University Hospital of Leuven over the past 20 years. Furthermore, it provides an overview of the current literature and its standings on the treatment of dog bite injuries in the maxillofacial region. We assessed both surgical and medical treatment options, as well as primary management, which includes infection prevention strategies, closure management, and additional vaccination requirements. Secondary management or scar revision methods will be mentioned. After conducting a UZ Leuven database search using keywords such as “dog,” “dog bite,” “face,” “head,” “lip,” and others, 223 patients were included. Age at the time of injury, location of the injury, treatment method used, and whether secondary infection was present or not were documented. All patients have been divided in age groups. We concluded that 21.52% was 5 years old or younger. Almost half of our patients (49.33%) were 18 years old or younger. Of all patients, 79 were hospitalized (35.43%). Primary closure was the treatment of choice. In 141 patients, the wounds were closed primarily (63.23%), resulting in only 2.24% reported secondary infections. Only one fatality was reported in our center over the course of 20 years (0.45%), a 6-year-old girl who had been attacked by her father's Rottweilers. Most patients who sustained dog bite injuries in the head and neck region seem to be children, specifically toddlers. Due to their height, it is possible they are more prone to dog bite injuries in the head and neck region. It is essential to optimize management of these injuries due to the impact they have on patients. This article provides the epidemiological data and clinical outcome of the approach at our center.

There is currently no widespread strategy for treating medication-related osteonecrosis of the jaw (MRONJ), so our aim was to evaluate retrospectively the outcome of a minimally invasive treatment protocol for patients with both MRONJ and cancer. We designed a retrospective cohort study of patients with cancer who had been diagnosed with MRONJ after treatment with denosumab or bisphosphonates given intravenously. Primary outcome measures were improvement in the clinical stage of MRONJ and the time course to its resolution. Secondary outcome measures included the incidence of risk factors and patterns of treatment. Seventy-nine patients with 109 lesions were enrolled, and their characteristics, presentation of the lesions, complications, and relations to previous oral interventions were recorded. Treatment depended on the stage of disease, and included conservative medical, and minimally-invasive surgical, procedures. There was complete healing and resolution of disease in 38/57 stage 1 lesions, 30/47 stage 2 lesions, and 3/5 stage 3 lesions. The symptoms improved in 16/47 stage 2 lesions, and 2/5 stage 3 lesions. Fifteen of the stage 1 lesions, and one of the stage 2 lesions, failed to respond. Despite the possibility of an aggressive approach to the treatment of MRONJ, conservative treatment remains the first line of defence as regression is obvious, with evidence of no evolution to a higher stage. In our experience surgical intervention is recommended in persistent stage 3 MRONJ that has failed to respond to conservative treatment. ispartof: The British Journal of Oral & Maxillofacial Surgery vol:55 issue:8 pages:787-792 ispartof: location:Scotland status: published

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.

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.

The purpose of this study was to investigate the presence of developmental defects of enamel on maxillary premolars in patients with cleft lip and/or palate. In addition, the relationship with the surgical technique of soft palate closure was studied. Such a relationship could be suspected since formation of enamel occurs around the same time period as soft palate closure.The study consisted of three groups. Patients from the first group (n = 123) were recruited from the Cleft Lip and Palate Team of the University Hospitals Leuven (CLPT-UHL). The second group (n = 81) consisted of patients consulting the Cleft Lip and Palate Team of the Radboud University Medical Centre Nijmegen (CLPT-UMCN). Healthy non-cleft lip and/or palate patients (n = 100) recruited from a private orthodontic practice were enrolled in group 3. All maxillary premolars were examined.Out of the total sample, 43 patients showed developmental defects on one or more premolars. All defects occurred in patients of group 1 who received surgical closure by the CLPT-UHL. None of the patients from group 2 and 3 showed defects.It can be suggested that the surgical technique, used by the CLPT-UHL for soft palate closure, causes these defects. It is postulated that the technique used by the CLPT-UHL leads to interference with the blood supply of the developing premolar at a critical stage of tooth enamel development. More research is needed to confirm these findings.

Wound healing is a primary survival mechanism that is largely taken for granted. The literature includes relatively little information about disturbed wound healing, and there is no acceptable classification describing wound healing process in the oral region. Wound healing comprises a sequence of complex biological processes. All tissues follow an essentially identical pattern to complete the healing process with minimal scar formation. The oral cavity is a remarkable environment in which wound healing occurs in warm oral fluid containing millions of microorganisms. The present review provides a basic overview of the wound healing process and with a discussion of the local and general factors that play roles in achieving efficient would healing. Results of oral cavity wound healing can vary from a clinically healed wound without scar formation and with histologically normal connective tissue under epithelial cells to extreme forms of trismus caused by fibrosis. Many local and general factors affect oral wound healing, and an improved understanding of these factors will help to address issues that lead to poor oral wound healing. ispartof: Frontiers in Physiology vol:7 issue:NOV ispartof: location:Switzerland status: published

Een intacte gelaatshuid en een intacte mucosa in de mond zijn belangrijke verdedigingslinies. Wanneer deze doorbroken worden door een wond, een tandextractie of een operatieve ingreep, komt er een helingsproces op gang met een vaste volgorde. Na de bloedstelping volgt een fase van ontsteking, waarbij jong vaatrijk celrijk bindweefsel wordt gevormd. Vervolgens vormt de wond vanuit de randen nieuw slijmvlies, waarna de wond gaat samentrekken en een litteken achterlaat. Zowel plaatselijke als algemene factoren kunnen dit normale proces van wondheling in de mond verstoren en aanleiding geven tot een vertraagde, uitgestelde of onvolledige wondheling. Ook kan te veel littekenvorming plaatsvinden. Oorzaken van verstoorde wondheling die relevant zijn voor de tandheelkundige praktijk worden in dit hoofdstuk besproken.

Objectives We surveyed the subjective outcome of secondary rhinoplasty in cleft lip patients. Methods Questionnaires were sent to 38 patients who had undergone a secondary rhinoplasty. A total of 30 questionnaires were returned and analyzed. Patients were asked to score their preoperative and postoperative nasal function and form. The validated Rhinoplasty Outcome Evaluation (ROE) questionnaire was supplemented with questions on the subjective burden of the procedure and general satisfaction. In parallel, the objective aesthetic outcome was judged by 2 surgeons using preoperative and postoperative photographs. Results There was a significant subjective improvement in ROE scores (from 39.3 ± 3.1 to 73.1 ± 2.0, p < 0.001), and in specific scores for nasal aesthetical appearance (from 3.6 ± 0.3 to 7.9 ± 0.2, p < 0.0001) and breathing capacity (from 4.9 ± 0.4 to 6.8 ± 0.3, p < 0.01). Subjective improvement in nasal aesthetics was generally evaluated to be better than improvement in nasal breathing. In retrospect, all patients would undergo the procedure again. Patient satisfaction did not correlate with the surgeon's appreciation of the aesthetic outcome of the rhinoplasty. Conclusion Patient satisfaction after secondary rhinoplasty in cleft lip patients is high and comparable to that of non–cleft lip rhinoplasty patients. © 2011 ARS-AAOA, LLC.

BACKGROUND: Prognostic indices for recurrence-free interval in patients with parotid carcinoma were developed and validated in a nationwide database. International validation would increase generalizability. METHODS: In a Belgian-German database that contained 237 consecutive patients with parotid carcinoma, a pretreatment prognostic index (PS1) and a post-treatment prognostic index (PS2) were validated by calculating both indices for each patient, comparing coefficients, constructing survival curves, calculating the concordance measure C, and performing Wald tests for scale and weight optimization of included variables and for the possible inclusion of new variables. RESULTS: Sixty-nine percent of patients (standard error, 5%) were disease free at 5 years. The defined cutoff points for PS1 resulted in 5-year disease-free rates from 94% (PS1 = 1) to 42% (PS1 = 4), and the cutoff points for PS2 resulted in 5-year disease-free rates from 93% (PS2 = 1) to 40% (PS2 = 4). Concordance measure C was good with 0.74 for both PS1 and PS2. Neither index could be improved statistically using this international database. There was some evidence that additional inclusion of the variable 'number of positive lymph nodes in the neck dissection specimen' could enhance the prognostic power of PS2. CONCLUSIONS: The prognostic indices performed adequately in this validation sample. Prospective generalized use seems to be well supported.

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.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.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).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.

Patienten die bestraald werden in het hoofd-halsgebied, hebben vaak baat bij dentale implantaten. Implantaten die geplaatst worden in bestraalde kaken lopen echter een groter risico dat ze verloren gaan dan in niet-bestraalde kaken. Bot dat bestraald wordt, ondergaat veranderingen die in de kaken van invloed kunnen zijn op de osseo-integratie van implantaten. Naast deze veranderingen, kunnen andere factoren leiden tot meer implantaatverlies in bestraalde kaken. Enkele factoren die hierbij een rol zouden kunnen spelen zijn de bestralingsdosis en -zone, de tijd tussen bestraling en implantatie, de locatie waar de implantaten worden geplaatst en hyperbare zuurstoftherapie. In de literatuur bestaat echter over al deze factoren nog veel discussie, evenals over het succespercentage van implantaten in bestraalde kaken. Voor de algemeen practicus is het voornamelijk van belang deze patienten op de hoogte te brengen van de bestraling als compromitterende factor en de mogelijke risico’s die eraan verbonden zijn. Aanbevolen wordt de patient te verwijzen naar een gespecialiseerd medisch centrum, zoals de afdeling Mond- kaak- en aangezichtschirurgie van een ziekenhuis. Daar beschikt men over de nodige ervaring en kan men de mogelijkheid tot implantaatplaatsing en de risico’s die eraan verbonden kunnen zijn, het best beoordelen.

Structured Abstract Objective – The aim of the study was to evaluate cephalometrically the effects of distraction of the maxilla over a 1-year period by means of an internal distractor applied in a boxer dog. Design – Internal distractors were placed bilaterally in the internal cavity of the maxillary sinus of a 2-year-old boxer dog after a Le Fort I osteotomy. Distraction was started 5 days after surgery and activations were continued for 14 days at a rate of 1 mm/day. Standardized lateral cephalograms were taken with an external source of 90 kV, 60 mS immediately pre-surgery, at day 1 after the start of the distraction (dp) and at day 5 dp, day 7 dp, day 10 dp, day 14 dp (end of distraction), at 14 days of consolidation period (cp), at 28 days cp and at 56 days cp (removal of the distractors). One year after the removal of the distractor, a final lateral cephalogram was taken. Cephalometric analysis was performed and superimpositions were used for the evaluation of the sagittal position of the maxilla. Results – The linear measurements, as well as the superimposition showed evidence for a significantly advanced position of the maxilla, which was stable 1 year after removal of the distractor. Conclusion – The application of the internal maxillary distractor in a boxer dog resulted in a sagittal advancement of the midface that was still present after 1 year.

Objective The purpose of this longitudinal retrospective study was to evaluate transverse maxillary expansion after a Schuchardt or segmental posterior subapical maxillary osteotomy (SPSMO) in patients with cleft lip and palate (CLP). A second aim was to compare these data with data for adult patients without CLP who were receiving a surgical assisted rapid palatal expansion (SARPE). Method The study group comprised 19 patients with CLP and a severe transversally collapsed maxilla who were treated with SPSMO followed by hyrax expansion at the University Hospitals Leuven. Dental casts of the 19 patients were analyzed before treatment, at maximum expansion, during orthodontic treatment, at the completion of orthodontic treatment. and 2 years after orthodontic treatment and were measured at the canine, premolar, and molar levels. Adult patients without CLP who were enrolled in a prospective study served as the control group. Results Maxillary expansion within the study group was significantly greater ( P < .05) at all measured levels compared with the maxillary arch before treatment. No significant relapse was measured in the study group 2 years after orthodontic treatment. When comparing the study and control groups, the only statistical difference was that canine expansion was significantly greater in the study group. Conclusion SPSMO followed by maxillary expansion and orthodontic treatment is an appropriate treatment option to correct a severe transversally collapsed maxilla in patients with CLP. The overall treatment effect of SPSMO expansion is comparable with the effects of SARPE, although canine expansion was greater in the SPSMO group.

Apert syndrome is a severe developmental malformation, clinically characterised by craniosynostosis, midface hypoplasia, a cone-shaped calvarium, ocular manifestations, typical dental findings and syndactyly of the hands and feet. Early craniosynostosis of the coronal suture, the cranial base and agenesis of the sagittal suture are prodromal characteristics for the typical craniofacial appearance in patients with Apert syndrome. The aim of this report was to describe the maxillofacial and orthodontic management of three patients with Apert syndrome who attended the Craniofacial, Maxillofacial and Orthodontic clinics of the University Hospitals of the KU Leuven (Belgium). The typical clinical features, the general orthognathic treatment approach as well as individual approaches of three patients with Apert syndrome are being highlighted. The three patients with Apert syndrome have been followed up very closely by all involved specialised departments as well as by multidisciplinary teams from birth. This report demonstrated that a combined orthodontic and orthognathic surgical treatment plan could significantly improve the occlusal function as well as the facial and occlusal aesthetics in patients with Apert syndrome.

Purpose To measure sensory disturbances of the inferior alveolar nerve (IAN) after removal of impacted mandibular third molars using cone beam computed tomography (CBCT) and dental panoramic radiography (PAN) for preoperative assessment in a randomized controlled trial and to measure the efficacy of the observers' prediction of IAN exposure at surgery based on CBCT compared with PAN. Materials and Methods The sample consisted of 86 impacted third molars (from 79 consecutive patients) in close relation to the IAN as determined by PAN and judged as showing a “moderate” risk of IAN damage. Cases presenting with no close relation between the IAN and roots and extremely risky cases with an obvious interrelation were excluded. Potential neurosensory disturbances of the lip and chin were assessed before surgery and during the postoperative recall by measuring the function of the IAN with the light-touch sensation method. Results Postoperative sensory disturbances occurred in 1 patient in the CBCT group and 1 patient in the PAN group. The light-touch sensation test showed no significant differences at the lip (P = .10) and chin (P = .17) levels for CBCT- versus PAN-based surgery. Significant differences in making a correct diagnosis of neurovascular bundle exposure at the extraction of impacted teeth were found between the 2 modalities (P = .029). Conclusions Within the limits of the present pilot study, CBCT was not superior to PAN in predicting postoperative sensory disturbances but was superior in predicting IAN exposure during third molar removal in cases judged as having “moderate” risk.

Benign peripheral nerve sheath tumors (PNSTs) are a characteristic feature of neurofibromatosis type I (NF1) patients. NF1 individuals have an 8–13% lifetime risk of developing a malignant PNST (MPNST). Atypical neurofibromas are symptomatic, hypercellular PNSTs, composed of cells with hyperchromatic nuclei in the absence of mitoses. Little is known about the origin and nature of atypical neurofibromas in NF1 patients. In this study, we classified the atypical neurofibromas in the spectrum of NF1-associated PNSTs by analyzing 65 tumor samples from 48 NF1 patients. We compared tumor-specific chromosomal copy number alterations between benign neurofibromas, atypical neurofibromas, and MPNSTs (low-, intermediate-, and high-grade) by karyotyping and microarray-based comparative genome hybridization (aCGH). In 15 benign neurofibromas (4 subcutaneous and 11 plexiform), no copy number alterations were found, except a single event in a plexiform neurofibroma. One highly significant recurrent aberration (15/16) was identified in the atypical neurofibromas, namely a deletion with a minimal overlapping region (MOR) in chromosome band 9p21.3, including CDKN2A and CDKN2B. Copy number loss of the CDKN2A/B gene locus was one of the most common events in the group of MPNSTs, with deletions in low-, intermediate-, and high-grade MPNSTs. In one tumor, we observed a clear transition from a benignatypical neurofibroma toward an intermediate-grade MPNST, confirmed by both histopathology and aCGH analysis. These data support the hypothesis that atypical neurofibromas are premalignant tumors, with the CDKN2A/B deletion as the first step in the progression toward MPNST. V C 2011 Wiley Periodicals, Inc.

Item does not contain fulltext This case report describes the combined orthodontic and orthognathic management of a 14-year-old girl affected with Apert syndrome. She presented with a severe Class III skeletal relationship, midfacial hypoplasia and an large anterior open bite. Intraorally, she had severe crowding, a narrow maxilla and lateral posterior crossbites. The patient was treated with a combination of removable and fixed appliances, a transpalatal skeletal distractor and Le Fort I surgery. The extraoral characteristics improved and a good occlusal relationship between maxillary and mandibular teeth was achieved. 01 juni 2010

Contains fulltext : 89089.pdf (Publisher’s version ) (Closed access) Abstract Hajdu-Cheney syndrome is a rare, probably autosomal dominant connective tissue disorder with a variable expressivity. It is characterized by an osteoporotic skeleton, acro-osteolysis, a proportionate short stature, and distinctive orofacial anomalies. The aim of this article is to focus on the orofacial manifestations in two sporadic cases and one familial case with Hajdu-Cheney syndrome. Several common dental and craniofacial features are described. In contrast to earlier proposed diagnostic features, these patients show persisting deciduous teeth, problematic tooth eruption, and tendency toward a Class III malocclusion. 01 november 2010

To evaluate the feasibility and efficacy of a hyperfractionated accelerated radiotherapy (RT) schedule combined with concomitant chemotherapy (Cx) in patients with locally advanced head-and-neck squamous cell carcinoma.Between 2004 and 2007, a total of 90 patients with locoregionally advanced head-and-neck squamous cell carcinoma underwent irradiation according to a hybrid fractionation schedule consisting of 20 fractions of 2 Gy (once daily) followed by 20 fractions of 1.6 Gy (twice daily) to a total dose of 72 Gy. Concomitant Cx (cisplatinum 100 mg/m(2)) was administered at the start of Weeks 1 and 4. Treatment outcome and toxicity were retrospectively compared with a previous patient group (n = 73) treated with the same schedule, but without concomitant Cx, between 2001 and 2004.The locoregional control (LRC) rate was 70% after 2 years. Two-year overall and 2-year disease-free survival rates were 74% and 60%, respectively. In comparison with the RT-only group, an improvement of 15% in both LRC (p = 0.03) and overall survival (p = 0.09) was observed. All patients were treated to full radiation dose according to protocol, although the Cx schedule had to be adjusted in 12 patients. No acute Grade 4 or 5 toxicity was seen, but incidences of Grade 3 acute mucositis (74.5% vs. 50.7%; p = 0.002) and dysphagia (82.2% vs. 47.9%; p0.001) were significantly higher in the chemoradiotherapy group compared with patients treated with RT alone.With this chemoradiotherapy regimen, excellent LRC and survival rates were achieved, with acceptable acute toxicity.

Zes jaar geleden meldde een mannelijke patient van 47 jaar zich op de afdeling orthodontie met een sterk obstructief slaapapnoe en een Angle klasse II/2-relatie met een sterk terugliggende onderkaak, een palatumbeet en een laterale kruisbeet. Na orthodontische afbehandeling werd de patient twee jaar geleden doorverwezen voor een esthetische verfraaiing van het restgebit.

It was the aim of this study to investigate radiologically the distraction site in the gonial angle area after three different protocols of unidirectional mandibular distraction in sheep. Bilateral mandibular distraction was performed in nine sheep, and one other sheep served as a sham‐operated control. In the nine experimental sheep, three different distraction protocols were used. In three sheep, an oblique corticotomy line was applied and the distractors were positioned perpendicular to the corticotomy line. In three other sheep, a horizontal corticotomy line was applied and the distractors were also positioned perpendicular to this corticotomy line. In the remaining three sheep, again, a horizontal corticotomy was performed, but with an angular positioning of the distractors relative to this corticotomy line. Distraction of 20 mm was performed over 20 days at a rate of 1 mm per day. After 3 weeks of retention the sheep were sacrificed, the mandibles were dissected and hemisectioned, and standardized hemimandibular contact radiographs were made of the specimens. The distracted gaps were traced from the radiograph and the gonial angle was measured. The displacements of the distracted parts were measured, the gonial angles were determined, and the values were compared with four additional control non‐distracted sheep mandibles. The results show that there was a very large variability in the distracted gaps as well as in the gonial angle changes after distraction, and it was not possible to recognize any of the three different distraction protocols radiographically after distraction. Although performed under standardized conditions it is difficult to reproduce intended mandibular corticotomy lines in sheep.

The aim of the present study was to evaluate the pressure pain threshold (PPT), tactile threshold (TT) and pain intensity as measured on a Visual Analogue Scale (VAS) in patients with pain in the orofacial region. Twenty-six patients with myogenous pain (7 ss), myogenous and capsular pain (11 ss) or neuropathic pain (8 ss) participated in the study. At baseline, the PPT was evaluated using an algometer and the TT using von Frey hairs. In addition, the pain intensity was rated on a VAS scale and the psychological profile made using the SCL-90 questionnaire. In some of the patients, the measurement procedure was conducted 1 week later, immediately before active treatment started. As active treatment, patients with myogenous or capsular pain received physical therapy in addition to conscious relaxation of the masticatory system, while patients with neuropathic pain were treated using tricyclic antidepressant medication. After 4 to 6 weeks, the measurements were repeated. Statistical evaluation using a linear mixed model revealed no significant changes in TT. In patients with myogenous and capsular pain, as well as in patients with neuropathic pain, the PPT increased after active treatment, while it decreased in the group with pure myogenous pain. The VAS score decreased in all groups. Regarding psychological profiles, a variety of characteristics were observed and the scale for sleeping problems was especially elevated in a majority of the patients.

This paper describes work in progress in the area of planning and prediction of maxillofacial surgery. We focus on true 3D problems which cannot be addressed by conventional 2D cephalometric radiographs. Examples are bilateral repositioning of the zygoma’s or treating facial asymmetries. The environment being developed arose from the need of patients for prediction of their expected post-op outlook and from the need of surgeons for better support to reach the desired result. Our simulation environment adheres to a scene-based approach in which CT image-derived visualizations and additional 3D photographs (showing the face surface and its natural complexion) are co-presented and manipulated. Tools for non-planar osteotomy are included. Repositioning of bone fragments is made possible. Furthermore, a voxel displacement formalism is presented to account for soft tissue implications. Combining these simulation tools, a qualitative prediction of the facial outlook is obtained. Results are shown for a case of hypoplastic zygoma repositioning.