RESUMEN
PURPOSE: This audit investigated factors which motivate patients to seek orthognathic treatment, assessed how confident patients were that they would be satisfied with the outcome of treatment, and explored possible influencing factors. MATERIALS AND METHODS: Questionnaires were distributed to pre-surgical patients at two centres (United Kingdom and Switzerland); questions asked what patients wished to gain from orthognathic treatment and how confident they were that they would be satisfied with treatment outcome. Gender, age and location were recorded as demographic variables, and type of malocclusion was also recorded. RESULTS: A total of 202 questionnaires were returned (UK, n = 149; Switzerland, n = 53). Reported motivating factors focused on improvements in aesthetics (specified and unspecified) (UK vs. Switzerland: 91.3% vs. 83.0%), function (72.5% vs. 66.0%), psychosocial health (51.7% vs. 20.8%), speech (4.0% vs. 7.5%), alleviation of pain (5.4% vs. 17%) and normalization of breathing (1.3% vs. 7.5%). No significant relationships were observed relative to patient age, gender or malocclusion. The anticipated satisfaction levels were generally high (86.5% vs. 89.9%). CONCLUSION: Although the distribution of motivational factors varied between the two sites, it did not affect the anticipated satisfaction level. Patients were generally confident that they would be satisfied with their treatment outcome and that their reasons for seeking treatment would be addressed.
Asunto(s)
Motivación , Procedimientos Quirúrgicos Ortognáticos/psicología , Satisfacción del Paciente , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Suiza , Reino UnidoRESUMEN
Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related genes including the reverse transcriptase (TERT) and the RNA component (TERC) of the telomerase complex. Variants in TERC and TERT can impede telomere elongation causing stem cells to enter premature replicative senescence and/or apoptosis as telomeres become critically short. This explains the major impact of the disease on highly proliferative tissues such as the bone marrow and skin. However, telomerase variants are not always fully penetrant and in some families disease-causing variants are seen in asymptomatic family members. As a result, determining the pathogenic status of newly identified variants in TERC or TERT can be quite challenging. Over a 3-year period, we have identified 26 telomerase variants (16 of which are novel) in 23 families. Additional investigations (including family segregation and functional studies) enabled these to be categorized into 3 groups: (1) disease-causing (n = 15), (2) uncertain status (n = 6), and (3) bystanders (n = 5). Remarkably, this process has also enabled us to identify families with novel mechanisms of inheriting human telomeropathies. These include triallelic mutations, involving 2 different telomerase genes, and an epigenetic-like inheritance of short telomeres in the absence of a telomerase mutation. This study therefore highlights that telomerase variants have highly variable functional and clinical manifestations and require thorough investigation to assess their pathogenic contribution.
Asunto(s)
Disqueratosis Congénita/genética , Epigénesis Genética , Telomerasa/genética , Alelos , Secuencia de Bases , Células Cultivadas , Estudios de Cohortes , Familia , Humanos , Patrón de Herencia , Datos de Secuencia Molecular , Mutación , Linaje , ARN/genéticaRESUMEN
Treacher Collins syndrome (TCS), mandibulofacial dysostosis, or Franceschetti-Zwahlen-Klein syndrome, is a rare genetic disorder characterised by dysgenesis of the hard and soft tissues of the first and second branchial arches. Early operations focus on maintaining the airway, protecting the eyes, and supporting auditory neurological development. Later operations include staged reconstruction of the mouth, face, and external ear. Bimaxillary surgery can improve the maxillomandibular facial projection, but correction of malar, orbital rim, and temporal defects may be more difficult. We present a clinical review of the syndrome with a chronological approach to the operations.
Asunto(s)
Disostosis Mandibulofacial/cirugía , Factores de Edad , Cara/cirugía , Huesos Faciales/cirugía , Humanos , Procedimientos de Cirugía Plástica/métodosRESUMEN
Amyloidosis is a disease characterised by the deposition in body tissues of amyloid: abnormal protein in a beta pleated sheet formation. It is a systemic disorder and macroglossia may be seen in all forms. Changes to the normal architecture of the tissues and systemic features of the disease and its underlying cause can complicate the surgical management of the enlarged tongue.
Asunto(s)
Amiloidosis/cirugía , Macroglosia/cirugía , Anciano , Amiloide/análisis , Amiloidosis/patología , Femenino , Glosectomía/métodos , Humanos , Macroglosia/patología , Recurrencia , Dehiscencia de la Herida Operatoria/etiología , Lengua/patología , Cicatrización de Heridas/fisiologíaRESUMEN
Use of the free groin flap, one of the first microvascular free flaps described, has been neglected recently because it has a short pedicle and varies anatomically. However, we have found its anatomical features and type of tissue ideal for volumetric enhancement in severe hemifacial asymmetry. We present a retrospective review of a consecutive series of 14 patients who had hemifacial augmentation with a free groin flap (mean age at operation 17 years, range 10-42) since 2001, and discuss the surgical technique. The most common cause of asymmetry was hemifacial microsomia (n=6). Anatomical variation of the vessels in the groin did not cause problems. Arterial anastomosis was to the facial artery in 13 patients; 12 patients had simultaneous hard tissue procedures. No flaps failed. The free groin flap is a useful adjunct in the management of hemifacial deficits in volume when free fat grafts will not provide enough bulk. Although the operation can take longer than non-vascularised grafts, little tissue is lost so long-term results may be more predictable. We have found the anatomy fairly consistent and the short pedicle caused no problems.
Asunto(s)
Asimetría Facial/cirugía , Colgajos Tisulares Libres , Procedimientos de Cirugía Plástica/métodos , Tejido Adiposo/trasplante , Adolescente , Adulto , Anastomosis Quirúrgica/métodos , Variación Anatómica , Arterias/cirugía , Trasplante Óseo/métodos , Niño , Cara/irrigación sanguínea , Hemiatrofia Facial/cirugía , Femenino , Estudios de Seguimiento , Colgajos Tisulares Libres/irrigación sanguínea , Mentoplastia/métodos , Supervivencia de Injerto , Ingle/cirugía , Humanos , Masculino , Microcirugia/métodos , Osteotomía/métodos , Estudios Retrospectivos , Sitio Donante de Trasplante/cirugía , Adulto JovenRESUMEN
We report a case of pneumocephalus, which is an unusual cause of late deterioration of the level of consciousness after craniomaxillofacial trauma.
Asunto(s)
Huesos Faciales/lesiones , Neumocéfalo/etiología , Fracturas Craneales/complicaciones , Inconsciencia/etiología , Anciano , Escala de Coma de Glasgow , Humanos , Masculino , Fracturas Maxilares/complicaciones , Neumocéfalo/diagnóstico , Neumocéfalo/terapia , Tomografía Computarizada por Rayos XRESUMEN
Cone beam computed tomography (CBCT) has been at the forefront of recent technological advances within the maxillofacial region. CBCT is useful in the accurate assessment and planning of patients undergoing orthognathic surgery. We propose that it also has a role in the post-operative evaluation of a subgroup of patients who have suffered complications at the time of surgery. We present two cases where unfavourable splits occurred during a bilateral sagittal split osteotomy (BSSO) of the mandible. Both cases were investigated post-operatively with CBCT with the aim of identifying the potential cause of the unfavourable split and to establish accurate localization of the condyle in the glenoid fossa following intra-operative attempts at proximal segment control. CBCT should be considered for evaluation of the mandible following an unfavourable split where it is deemed that plain radiographs would not provide adequate information.
Asunto(s)
Tomografía Computarizada de Haz Cónico/métodos , Complicaciones Intraoperatorias , Mandíbula/cirugía , Fracturas Mandibulares/etiología , Procedimientos Quirúrgicos Ortognáticos/efectos adversos , Osteotomía/efectos adversos , Adulto , Placas Óseas , Tornillos Óseos , Femenino , Estudios de Seguimiento , Fracturas Conminutas/etiología , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagenología Tridimensional/métodos , Complicaciones Intraoperatorias/diagnóstico por imagen , Técnicas de Fijación de Maxilares , Masculino , Maloclusión de Angle Clase III/cirugía , Cóndilo Mandibular/diagnóstico por imagen , Fracturas Mandibulares/diagnóstico por imagen , Prognatismo/cirugía , Hueso Temporal/diagnóstico por imagen , Resultado del Tratamiento , Adulto JovenRESUMEN
We report an unusual case of a 20-year-old man who presented with a superolateral dislocation of the left condyle with intracranial penetration following a road traffic accident. Management included open reduction of the condyle, rigid intermaxillary fixation (IMF), and intensive jaw physiotherapy. One year after operation he had good functional outcome with an interincisal opening of 30mm.
Asunto(s)
Luxaciones Articulares/cirugía , Cóndilo Mandibular/lesiones , Fracturas Mandibulares/cirugía , Hueso Temporal/lesiones , Placas Óseas , Fosa Craneal Media/cirugía , Craneotomía , Estudios de Seguimiento , Humanos , Técnicas de Fijación de Maxilares , Masculino , Modalidades de Fisioterapia , Adulto JovenRESUMEN
UNLABELLED: Chondrosarcomas are rare lesions within the head and neck. They are most common in the 4th to 5th decade of life and usually present as a painless swelling. The purpose of this paper is to present a case and review the literature with regard to the radiographic appearance. Although the radiographic appearance is variable, there are some features that are common to most cases, the most important feature being that of an ill-defined radiolucent lesion with scattered radio-opacities. Although these features are seen in other malignant diseases, these features should alert the clinician to the possibility of a chondrosarcoma. CLINICAL RELEVANCE: Chondrosarcomas of the jaw are rare but important malignant lesions that require prompt diagnosis and treatment for improved outcomes.