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OBJECTIVES: Among the existing techniques for the correction of mandibular posterior vertical insufficiency (PVI), the intra-oral ramus vertical lengthening osteotomy (IORVLO) can be proposed as it allows simultaneous correction of mandibular height and retrusion. This study assessed the 3D morpho-anatomical changes of the ramus-condyle unit and occlusal stability after IORVLO. MATERIALS AND METHODS: This retrospective analysis compared immediate and 1-year post-operative 3D CBCT reconstructions. The analysis focused on the condylar height (primary endpoint) and on the changes in condylar (condylar diameter, condylar axis angle) and mandibular (ramus height, Frankfort-mandibular plane angle, gonion position, intergonial distance, angular remodeling) parameters. Additionally, this analysis investigated the maxillary markers and occlusal stability. RESULTS: On the 38 condyles studied in 21 included patients (mean age 23.7 ± 3.9 years), a condylar height (CH) loss of 0.66 mm (p < 0,03) was observed, with no correlation with the degree of ramus lengthening (mean 13.3 ± 0.76 mm). Only one patient presented an occlusal relapse of Class II, but a 3.4 mm (28%) condylar diameter loss and a 33% condylar volume reduction with loss of 1 mm and 3.4 mm in CH and condyle diameter, respectively. A mean 3.56 mm (p < 0.001) decrease in ramus height was noted, mainly due to bone resorption in the mandibular angles. CONCLUSION: This study confirms the overall stability obtained with IORVLO for the correction of PVI. CLINICAL RELEVANCE: This study aims to precise indication of IORVLO, and to validate the clinical and anatomical stability of results.
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Reabsorção Óssea , Procedimentos de Cirurgia Plástica , Humanos , Adulto Jovem , Adulto , Estudos Retrospectivos , Osteotomia , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , PolímerosRESUMO
INTRODUCTION: Recent microsurgical reconstruction techniques benefit from the use of skin and perforator flaps that spare the donor sites. Studies on these skin flaps in rat models are numerous but there is currently no reference regarding the position of the perforators, their caliber, and the length of the vascular pedicles. METHODS: We performed an anatomical study on 10 Wistar rats and 140 vessels: cranial epigastric (CE), superficial inferior epigastric (SIE), lateral thoracic (LT), posterior thigh (PT), deep iliac circumflex (DCI) and posterior intercostal (PIC) vessels. The evaluation criteria were the external caliber, the length of the pedicle, and the position of the vessels reported on the skin surface. RESULTS: Data from the six perforator vascular pedicles are reported, with figures illustrating the orthonormal reference frame, the representation of the vessel's position, the cloud of points corresponding to the various measurements, and the average representation of the collected data. The analysis of the literature does not find similar studies; the different vascular pedicles are discussed as well as the limitations of our study: evaluation of cadaver specimen, presence of the very mobile panniculus carnosus, other perforator vessels not evaluated as well as the precise definition of perforating vessels. CONCLUSIONS: Our work describes the vascular calibers, pedicle lengths, and location of birth and arrival at the skin of the perforator vessels PT, DCI, PIC, LT, SIE, and CE in rat animal models. This work, without an equivalent in the literature, lays the foundation for future studies about flap perfusion, microsurgery, and super microsurgery learning.
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Retalho Perfurante , Retalhos Cirúrgicos , Ratos , Animais , Ratos Wistar , Retalhos Cirúrgicos/irrigação sanguínea , Pele , Cadáver , Microcirurgia/métodos , Retalho Perfurante/irrigação sanguíneaRESUMO
OBJECTIVE: Evaluate the two-dimensional (2D) ultrasound (US) grid and multidisciplinary consultation (maxillofacial surgeon-sonographer) during prenatal US imaging to improve the sensitivity of prenatal description for cleft lip (CL) with or without alveolar cleft (CLA) or +/- cleft palate (CLP). DESIGN: Retrospective study of children with CL/P in a tertiary children's Hospital. SETTING: Single-center cohort study conducted in a tertiary pediatric Hospital. PATIENTS/PARTICIPANTS: Fifty-nine cases of prenatally diagnosed CL +/-CA or CP between January 2009 and December 2017 were analyzed. MAIN OUTCOME MEASURES: The correlation was analyzed between prenatal US and postnatal data with regard to eight 2D US criteria (upper lip, alveolar ridge, median maxillary bud, homolateral nostril subsidence, deviated nasal septum, hard palate, tongue movement, nasal cushion flux) in order to propose them in a grid, as well as the presence of the maxillofacial surgeon during the US examination. RESULTS: Among the 38 cases included, the results were considered satisfied for 87%. Sixty five percent of the US criteria were described when the final diagnosis was correct (5.2 criteria) versus (vs) 45% (3.6 criteria); [OR = 2.28; IC95% (1.10-4.75) P = .022 < 0.05]. This study also highlighted a more in-depth description when the maxillofacial surgeon was present with 68% of 2D US criteria fulfilled (5.4 criteria) vs 47.5% (3.8) when the sonographer was alone [OR = 2.32; IC95% (1.34-4.06) P < .001]. CONCLUSION: This US grid with eight criteria has considerably contributed to a more precise prenatal description. In addition, the systematic multidisciplinary consultation seemed to optimize it and lead to better prenatal information on pathology and postnatal surgical techniques.
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OBJECTIVE: We aimed to evaluate the rate of patient requiring Surgical Repositioning of the Premaxilla in a population carrying BCL ± P, retrieve age and operative indication. Our secondary objective was to present further facial growth characteristics. SETTINGS: This was a retrospective, single-center cohort study conducted in Nantes University Hospital, Oral and Maxillofacial Surgery department, tertiary cleft center. PATIENTS: Patients with BCL ± P born between 1980 and 2019 treated at Nantes University Hospital were included. MAIN OUTCOME MEASURE: Our primary outcome measure was the rate of patient requiring SRP. RESULTS: Over the whole period, 189 patients with BCL ± P were identified. Three patients (1,58%) underwent SRP. Patients who underwent SRP all had BCLP. SRP was performed during their primary dentition period. The indication for surgical repositioning was always premaxilla vertical overgrowth with an overbite over 10â mm. Facial growth features in the three patients were mostly comparable with a population carrying BCLP who had no premaxillary surgery. CONCLUSION: Our results showed a low incidence of SRP. No SRP was necessary during early infancy (ie, before lip repair) or during adulthood. Surgical repositioning of the premaxilla is beneficial for patient with orthodontically uncorrectable vertical premaxillary excess, even more since facial development compared with other patients with BCLP appears comparable.
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Fenda Labial , Fissura Palatina , Humanos , Adulto , Fenda Labial/cirurgia , Estudos Retrospectivos , Estudos de Coortes , Incidência , Reposicionamento de Medicamentos , Maxila/cirurgia , Fissura Palatina/cirurgiaRESUMO
BACKGROUND: Imaging of the salivary ductal system is relevant prior to an endoscopic or a surgical procedure. Various imaging modalities can be used for this purpose. The aim of this study was to compare the diagnostic capability of three-dimensional (3D)-cone-beam computed tomography (CBCT) sialography versus magnetic resonance (MR) sialography in non-tumorous salivary pathologies. METHODS: This prospective, monocenter, pilot study compared both imaging modalities in 46 patients (mean age 50.1 ± 14.9 years) referred for salivary symptoms. The analyses were performed by two independent radiologists and referred to identification of a salivary disease including sialolithiasis, stenosis, or dilatation (primary endpoint). The location and size of an abnormality, the last branch of division of the salivary duct that can be visualized, potential complications, and exposure parameters were also collected (secondary endpoints). RESULTS: Salivary symptoms involved both the submandibular (60.9%) and parotid (39.1%) glands. Sialolithiasis, dilatations, and stenosis were observed in 24, 25, and 9 patients, respectively, with no statistical differences observed between the two imaging modalities in terms of lesion identification (p1 = 0.66, p2 = 0.63, and p3 = 0.24, respectively). The inter-observer agreement was perfect (> 0.90) for lesion identification. MR sialography outperformed 3D-CBCT sialography for visualization of salivary stones and dilatations, as evidenced by higher positive percent agreement (sensitivity) of 0.90 [95% CI 0.70-0.98] vs. 0.82 [95% CI 0.61-0.93], and 0.84 [95% CI 0.62-0.94] vs. 0.70 [95% CI 0.49-0.84], respectively. For the identification of stenosis, the same low positive percent agreement was obtained with both procedures (0.20 [95% CI 0.01-0.62]). There was a good concordance for the location of a stone (Kappa coefficient of 0.62). Catheterization failure was observed in two patients by 3D-CBCT sialography. CONCLUSIONS: Both imaging procedures warrant being part of the diagnostic arsenal of non-tumorous salivary pathologies. However, MR sialography may be more effective than 3D-CBCT sialography for the identification of sialolithiasis and ductal dilatations. TRIAL REGISTRATION: NCT02883140.
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Cálculos das Glândulas Salivares , Sialografia , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Sialografia/métodos , Cálculos das Glândulas Salivares/diagnóstico por imagem , Constrição Patológica/diagnóstico por imagem , Estudos Prospectivos , Projetos Piloto , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada de Feixe Cônico/métodosRESUMO
BACKGROUND/AIMS: Management of maxillofacial trauma in the geriatric population poses a great challenge due to anatomical variations and medical comorbidities. The aim of this study was to analyze the management variables, timing, and outcomes of facial fractures in elderly patients (aged 70 years or more) at several European departments of oral and maxillofacial surgery. MATERIALS AND METHODS: This study was based on a systematic computer-assisted database that allowed the recording of data from all geriatric patients with facial fractures from the involved maxillofacial surgical units across Europe between 2013 and 2017. RESULTS: A total of 1334 patients were included in the study: 665 patients underwent closed or open surgical treatment. A significant association (P < .005) was found between the presence of concomitant injuries and a prolonged time between hospital admission and treatment. The absence of indications to treatment was associated with comorbidities and an older age (P < .000005). CONCLUSIONS: Elderly patients require specific attention and multidisciplinary collaboration in the diagnosis and sequencing of trauma treatment. A prudent attitude may be kept in selected cases, especially when severe comorbidities are associated and function is not impaired.
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Traumatismos Maxilofaciais/epidemiologia , Fraturas Cranianas/epidemiologia , Idoso , HumanosRESUMO
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gß. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10(-21)), implicating GNB1 as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gß binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gßγ interaction (resulting in a constitutively active Gßγ) or through the disruption of residues relevant for interaction between Gßγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo GNB1 mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues.
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Deficiências do Desenvolvimento/etiologia , Subunidades beta da Proteína de Ligação ao GTP/genética , Mutação em Linhagem Germinativa/genética , Deficiência Intelectual/etiologia , Hipotonia Muscular/etiologia , Convulsões/etiologia , Adolescente , Adulto , Criança , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Exoma/genética , Feminino , Subunidades beta da Proteína de Ligação ao GTP/química , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Hipotonia Muscular/patologia , Fenótipo , Conformação Proteica , Convulsões/patologia , Transdução de Sinais , Adulto JovemRESUMO
BACKGROUND: Osteosarcoma (OS) is the most common cancer of bone. Jaw osteosarcoma (JOS) is rare and it differs from other OS in terms of the time of occurrence (two decades later) and better survival. The aim of our work was to develop and characterize specific mouse models of JOS. METHODS: Syngenic and xenogenic models of JOS were developed in mice using mouse (MOS-J) and human (HOS1544) osteosarcoma cell lines, respectively. An orthotopic patient-derived xenograft model (PDX) was also developed from a mandibular biopsy. These models were characterized at the histological and micro-CT imaging levels, as well as in terms of tumor growth and metastatic spread. RESULTS: Homogeneous tumor growth was observed in both the HOS1544 and the MOS-J JOS models by injection of 0.25 × 106 and 0.50 × 106 tumor cells, respectively, at perimandibular sites. Histological characterization of the tumors revealed features consistent with high grade conventional osteosarcoma, and the micro-CT analysis revealed both osteogenic and osteolytic lesions. Early metastasis was encountered at day 14 in the xenogenic model, while there were no metastatic lesions in the syngenic model and in the PDX models. CONCLUSION: We describe the first animal model of JOS and its potential use for therapeutic applications. This model needs to be compared with the usual long-bone osteosarcoma models to investigate potential differences in the bone microenvironment.
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Neoplasias Maxilomandibulares/patologia , Osteossarcoma/patologia , Ensaios Antitumorais Modelo de Xenoenxerto , Animais , Linhagem Celular Tumoral , Proliferação de Células , Feminino , Humanos , Neoplasias Maxilomandibulares/diagnóstico por imagem , Neoplasias Pulmonares/secundário , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Camundongos Endogâmicos C57BL , Camundongos SCID , Osteossarcoma/diagnóstico por imagem , Carga Tumoral , Microtomografia por Raio-XRESUMO
Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis. To date, TCS-causing mutations in three genes, namely TCOF1, POLR1D, and POLR1C have been identified. TCS is usually inherited in an autosomal dominant manner, with a high clinical variability and no phenotype-genotype correlation. Up-to now, five families have been reported with an autosomal recessive mode of inheritance due to mutations in POLR1D or POLR1C. We report here a new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR1C mutations.
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RNA Polimerases Dirigidas por DNA/genética , Genes Recessivos , Disostose Mandibulofacial/genética , Mutação , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Disostose Mandibulofacial/tratamento farmacológicoRESUMO
PURPOSE: The aim of this study was to analyze the demographic variables and causes and characteristics of mandibular angle fractures managed at several European departments of maxillofacial surgery. MATERIALS AND METHODS: This study was based on a multicenter systematic database that allowed the recording of data from all patients with mandibular angle fractures between January 1, 2013, and December 31, 2017. The following data were recorded: gender, age, etiology, side of angle fracture, associated mandibular fractures, presence of third molar, intermaxillary fixation, and osteosynthesis. RESULTS: The study included 1,162 patients (1,045 male and 117 female patients). A significant association was found between the presence of a third molar and the diagnosis of an isolated angle fracture (P < .0000005). Furthermore, assaults were associated with the presence of voluptuary habits (P < .00005), a younger mean age (P < .00000005), male gender (P < .00000005), and left-sided angle fractures (P < .00000005). CONCLUSIONS: Assaults and falls actually represent the most frequent causes of angle fractures. The presence of a third molar may let the force completely disperse during the determination of the angle fracture, finding a point of weakness.
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Acidentes por Quedas , Fraturas Mandibulares/epidemiologia , Abuso Físico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Europa (Continente) , Feminino , Fixação Interna de Fraturas , Hábitos , Humanos , Masculino , Mandíbula , Fraturas Mandibulares/etiologia , Pessoa de Meia-Idade , Dente Serotino , Estudos Retrospectivos , Adulto JovemRESUMO
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene. Linkage analysis using short tandem repeat markers located in the vicinity of LGR5 excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes.
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Anquiloglossia/patologia , Genes Dominantes , Anormalidades Dentárias/patologia , Anquiloglossia/genética , Feminino , Genes Ligados ao Cromossomo X , Humanos , Recém-Nascido , Masculino , Mutação , Linhagem , Fenótipo , Anormalidades Dentárias/genéticaRESUMO
MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.
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Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/genética , Proteínas de Homeodomínio/genética , Mutação , Fatores de Transcrição/genética , Análise Mutacional de DNA , Exoma , Fácies , Feminino , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Fenótipo , SíndromeRESUMO
Bone repair is an important concept in tissue engineering, and the ability to repair bone in hypotrophic conditions such as that of irradiated bone, represents a challenge for this field. Previous studies have shown that a combination of bone marrow and (BCP) was effective to repair irradiated bone. However, the origin and role played by each cell type in bone healing still remains unclear. In order to track the grafted cells, the development of an animal model that is immunotolerant to an allograft of bone marrow would be useful. Furthermore, because the immune system interacts with bone turnover, it is of critical importance to demonstrate that immunosuppressive drugs do not interfere with bone repair. After a preliminary study of immunotolerance, cyclosporin-A was chosen to be used in immunosuppressive therapy. Ten rats were included to observe qualitative and quantitative bone repair 8 days and 6 weeks after the creation of bone defects. The defects were filled with an allograft of bone marrow alone or in association with BCP under immunosuppressive treatment (cyclosporin-A). The results showed that there was no significant interaction of cyclosporin-A with osseous regeneration. The use of this new immunotolerant rat model of bone marrow allograft in future studies will provide insight on how the cells within the bone marrow graft contribute to bone healing, especially in irradiated conditions.
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Transplante de Medula Óssea/métodos , Ciclosporina/farmacologia , Modelos Animais de Doenças , Terapia de Imunossupressão/métodos , Imunossupressores/farmacologia , Engenharia Tecidual/métodos , Aloenxertos , Animais , Osso e Ossos/lesões , Osso e Ossos/cirurgia , Processamento de Imagem Assistida por Computador , Microscopia Eletrônica de Varredura , Ratos , Ratos Sprague-Dawley , Ratos Wistar , Transplante Homólogo/métodosRESUMO
INTRODUCTION: Craniofacial microsomia (CFM) and camel-hump condylo-mandibular dysplasia (CMD) are developmental disorders affecting the mandible that share common clinical features. This study aimed to investigate and compare the dental anomalies (DA) between the two entities for differential diagnosis and to propose appropriate treatment. METHODS: This retrospective cross-sectional study was based on panoramic radiographs of patients diagnosed with CFM or CMD. DA were evaluated using the classification reported by Bilge. Delayed tooth eruption on the affected side was noted based on a comparison with the contralateral side. Nolla's stages of tooth calcification were used to assess dental development. RESULTS: A total of 103 patients were included, 80 subjects (77.7 %) in CFM group and 23 patients (22.3 %) in CMD group. The prevalence of DA among CFM and CMD-affected patients were 80.0 % and 95.7 %, respectively. Tooth ectopia, tooth impaction, dental development delay, and delayed tooth eruption on the affected side exhibited a significant association with the two craniofacial malformations. The overall affected teeth (molars, premolars, canines) differed between the two craniofacial malformations. Dental abnormalities such as oligodontia, hyperdontia, dentin dysplasia, and anomalies of shape were seen only in subjects affected by CFM. CONCLUSION: DA were widely observed in patients with CFM and CMD. The global distribution of affected teeth differed between the two conditions and some DA were detected only in CFM patients. When clinical diagnosis remains uncertain, some specific radiological characteristics of DA can be used to differentiate CFM from CMD.
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Síndrome de Goldenhar , Radiografia Panorâmica , Anormalidades Dentárias , Humanos , Estudos Retrospectivos , Estudos Transversais , Feminino , Masculino , Anormalidades Dentárias/epidemiologia , Anormalidades Dentárias/diagnóstico , Criança , Adolescente , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/complicações , Pré-Escolar , Diagnóstico Diferencial , Adulto , Adulto JovemRESUMO
INTRODUCTION: Mandibular advancement devices (MAD) are an alternative to continuous positive airway pressure for the treatment of obstructive sleep apnea hypopnea syndrome (OSAHS). We aimed to evaluate the efficiency of a custom-made monoblock MAD for the treatment of OSAHS. MATERIALS AND METHODS: We carried out a monocentric retrospective observational study including patients with OSAHS (mild, moderate or severe) or isolated ronchopathy from January 2005 to March 2023. The primary objective was to evaluate the overall efficiency of the MAD assessed by the percentage of patients successfully treated. The secondary objectives included the global efficiency of the device in the treatment of snoring, the report of side effects, and the identification of predictive factors for efficacy or failure. RESULTS: The medical records of 586 patients were collected, and 293 patients (229 OSAHS and 64 isolated ronchopathy) were included in the analysis. After a mean 2.9 years follow-up, 72.5 % of patients were successfully treated by MAD. We observed a significant improvement in ronchopathy, both in terms of intensity and percentage of time per night. Regarding patients with isolated ronchopathy, 87.5 % reported an improvement in their symptoms and satisfaction with their treatment. Finally, 14.0 % of the patients declared side-effects, the dentoskeletal modifications being the most frequent (6.1 % of the patients). CONCLUSION: This study confirmed the long-term efficacy and good tolerance of a custom-made monoblock orthosis in OSAHS.
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Avanço Mandibular , Apneia Obstrutiva do Sono , Humanos , Apneia Obstrutiva do Sono/terapia , Apneia Obstrutiva do Sono/diagnóstico , Estudos Retrospectivos , Avanço Mandibular/instrumentação , Avanço Mandibular/métodos , Masculino , Feminino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto , Idoso , Desenho de EquipamentoRESUMO
The Posterior vertical excess (PVE) associates a symmetric ramus and condyle elongation to an Angle Class III malocclusion. This dento-skeletal discrepancy can be isolated or associated to a condyle hyperplasia or a transverse overgrowth of the mandible due to macroglossia. We present the technique and the postoperative results of bilateral condylectomy applied for the surgical correction of PVE. Bilateral condylectomy represents an alternative to the bimaxillary surgery and adds to the therapeutic arsenal for the correction of Angle Class III malocclusion.
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The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for predicting KS (Kabuki Syndrome) on 2D facial photographs and distinguish KS1 (KS type 1, KMT2D-related) from KS2 (KS type 2, KDM6A-related). We included retrospectively and prospectively, from 1998 to 2023, all frontal and lateral pictures of patients with a molecular confirmation of KS. After automatic preprocessing, we extracted geometric and textural features. After incorporation of age, gender, and ethnicity, we used XGboost (eXtreme Gradient Boosting), a supervised machine learning classifier. The model was tested on an independent validation set. Finally, we compared the performances of our model with DeepGestalt (Face2Gene). The study included 1448 frontal and lateral facial photographs from 6 centers, corresponding to 634 patients (527 controls, 107 KS); 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2). We were able to distinguish KS from controls in the independent validation group with an accuracy of 95.8% (78.9-99.9%, p < 0.001) and distinguish KS1 from KS2 with an empirical Area Under the Curve (AUC) of 0.805 (0.729-0.880, p < 0.001). We report an automatic detection model for KS with high performances (AUC 0.993 and accuracy 95.8%). We were able to distinguish patients with KS1 from KS2, with an AUC of 0.805. These results outperform the current commercial AI-based solutions and expert clinicians.
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Anormalidades Múltiplas , Inteligência Artificial , Face/anormalidades , Doenças Hematológicas , Doenças Vestibulares , Humanos , Mutação , Estudos Retrospectivos , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/genética , Fenótipo , Histona Desmetilases/genética , GenótipoRESUMO
INTRODUCTION: The purpose of this European multicenter study was to describe the general characteristics and risk factors of MRONJ lesions as well as their clinical diagnosis and management at different European Oral and Maxillofacial Surgery centers, in order to minimize selections biases and provide information about the epidemiology, etiopathogenesis, and the current trends in the treatment of MRONJ across Europe. MATERIALS AND METHODS: The following data were registered for each patient: gender; age at MRONJ diagnosis; past medical history; indication for antiresorptive or antiangiogenic therapy; type of antiresorptive medication; local risk factor for MRONJ; MRONJ Stage; anatomic location and symptoms; treatment; surgical complications; recurrence. RESULTS: A total of 537 patients (375 females, 162 males) with MRONJ were included. Statistically significant associations were found between patients with metastatic bone disease and recurrences (P < 0.0005) and between advanced MRONJ stages (stages 2 and 3) and recurrences (P < 0.005). Statistically significant associations were also found between male gender and recurrences (P < 0.05), and between MRONJ maxillary sites and recurrences (P < 0.0000005). CONCLUSIONS: A longer mean duration of antiresorptive medications before MRONJ onset was observed in patients affected by osteoporosis, whereas a shorter mean duration was observed in all metastatic bone cancer patients, and in particular in those affected by prostate cancer with bone metastases or multiple myeloma. Surgery plays an important role for the management of MRONJ lesions.
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BACKGROUND: The objective of this study was to evaluate the mouth opening (MO) in patients with Langenbeck or Jacob diseases after a multimodal treatment combining the coronoidectomy and a self or assisted postoperative rehabilitation. METHODS: This observational retrospective study included patients who had clinically impacted MO limitation. All patients underwent unilateral or bilateral coronoidectomy and then physical therapy for at least 3 months. MO measurements were compared between the preoperative time (M0), the immediate postoperative time (M1) and the last follow-up (M2). Other data regarding the surgical procedure and the postoperative rehabilitation were collected. RESULTS: Twenty patients were included. The MO was significantly improved from 19.15 ± 7.02 mm at M0 to 38.00 ± 7.62 mm at M1 (p = 0.0002). After a mean follow-up of 21.5 ± 40.5 months, the mean MO was 32.85 ± 5.69 mm (M2). All patients underwent coronoidectomy through an intraoral approach except for one patient who was given a combined extra-oral approach for a recurrent disease. Rehabilitation protocol included assisted physiotherapy and self-rehabilitation in 7 patients as well as just self-rehabilitation in 13 patients. No patient showed worsening or stagnation of MO. CONCLUSIONS: The multimodal treatment combining the surgical removal of the coronoid process and an active rehabilitation performed by the patient himself or assisted by a physiotherapist seems effective in Langenbeck or Jacob diseases.
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Osteotomia Mandibular , Procedimentos Cirúrgicos Bucais , Humanos , Estudos Retrospectivos , Hiperplasia , Amplitude de Movimento Articular , Procedimentos Cirúrgicos Bucais/métodosRESUMO
INTRODUCTION: Orbital floor fractures (OFF) are common facial trauma injuries, and there are no official guidelines for their medical and surgical management. The aim of this study was to provide an overview of the management of OFF in France. MATERIALS AND METHODS: An online questionnaire was sent to 144 surgeons at the 88 French centers involved in the management of OFF (2019 data from the National Health Insurance Body). The questions related to the preoperative clinical and radiographic examinations, the criteria for surgical indication, the materials used, and the elements of the postoperative period. RESULTS: Ultimately, 42 questionnaires were analyzed (32 from oral and maxillofacial surgeons (OMFS), 8 from ophthalmologists, and 2 from ENT or plastic surgeons). For 69% of the surgeons, a systematic ophthalmological examination was carried out, 3-7 days after the trauma, and based on a Lancaster test or visual acuity (97.6% and 83.3% of the responders, respectively). The most important criteria for the therapeutic decision were diplopia or oculomotor disorder that persisted for more than 7 days (76.2%), clinical enophthalmos (54.8%), a large fracture (52.4%), and ptosis of the orbital content on CT scan (38.1%). The mean surgical delay was 7-15 days for 54.8% of the responders. Resorbing sheets were the preferred materials to repair small fractures, while larger fractures required alloplastic implants (titanium mesh). CONCLUSION: This survey confirms the diversity of practices in France regarding the management of OFF. Further studies are needed before guidelines can be developed.