Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.

Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. GDD combines craniofacial fibro-osseous lesions, dental loss and progressive curvature and cortical thickening of long bones and vertebra, causing pathological fractures. Diagnosis is based on bone pathology and mutation screening. Here we report three GDD cases within a single family with a novel ANO5 mutation: c.1790 G > T (p.Arg597Ile, i.e. R597I) on exon 16. Microsurgical mandibular reconstructions were performed in the three cases. We reviewed the literature on jaw reconstruction in this condition and discussed the challenges of craniofacial reconstruction in GDD due to the diffuse bone anomalies affecting potential flap donor zones and a specific risk for jawbone osteomyelitis.

Causes for litigation and risk management in facial surgery: A review of 136 cases.

INTRODUCTION: Malpractice lawsuits in medicine and facial surgery are on the rise and they become an influencing factor in everyday practice for any surgeon. AIM: We aim to analyze the possible causes for litigation in an effort to avoid these claims in the future. MATERIALS: One hundred and thirty litigation cases filed over a 10 year period (2005-2015) were evaluated. METHODS: Depending on the expert's opinion, it was determined whether the lawsuit was due to actual faulty treatment or either a lack of informed consent or discrepancy between the expected and the final result. RESULTS: A total of 136 claims were filed and examined. Dissatisfaction about the esthetic or functional result topped the list with 47% (n = 64) of the cases followed by nerve damage with 20% (n = 27). Medical negligence and failed treatment accounted both for 9% of all cases (n = 12). The list was completed by post-operative complications (n = 11), death (n = 6) and incorrect or late diagnosis (n = 4). In the expert's opinion only in 21 (15%) cases there was actual fault and in the remaining cases litigation was due to lack of informed consent (n = 70; 51%) or a discrepancy between the expected and achieved result (n = 45; 33%). CONCLUSION: A considerable portion of the lawsuits in facial surgery seem to originate out of a lack of communication between physician and patient and not faulty treatment. Efforts in informing the patient about possible side effects, complications and expectations will benefit the physician greatly by minimizing his liability and risk at prosecution.

The repeatability of cognitive performance: a meta-analysis.

Behavioural and cognitive processes play important roles in mediating an individual's interactions with its environment. Yet, while there is a vast literature on repeatable individual differences in behaviour, relatively little is known about the repeatability of cognitive performance. To further our understanding of the evolution of cognition, we gathered 44 studies on individual performance of 25 species across six animal classes and used meta-analysis to assess whether cognitive performance is repeatable. We compared repeatability (R) in performance (1) on the same task presented at different times (temporal repeatability), and (2) on different tasks that measured the same putative cognitive ability (contextual repeatability). We also addressed whether R estimates were influenced by seven extrinsic factors (moderators): type of cognitive performance measurement, type of cognitive task, delay between tests, origin of the subjects, experimental context, taxonomic class and publication status. We found support for both temporal and contextual repeatability of cognitive performance, with mean R estimates ranging between 0.15 and 0.28. Repeatability estimates were mostly influenced by the type of cognitive performance measures and publication status. Our findings highlight the widespread occurrence of consistent inter-individual variation in cognition across a range of taxa which, like behaviour, may be associated with fitness outcomes.This article is part of the theme issue 'Causes and consequences of individual differences in cognitive abilities'.

Cognition in the field: comparison of reversal learning performance in captive and wild passerines.

Animal cognitive abilities have traditionally been studied in the lab, but studying cognition in nature could provide several benefits including reduced stress and reduced impact on life-history traits. However, it is not yet clear to what extent cognitive abilities can be properly measured in the wild. Here we present the first comparison of the cognitive performance of individuals from the same population, assessed using an identical test, but in contrasting contexts: in the wild vs. in controlled captive conditions. We show that free-ranging great tits (Parus major) perform similarly to deprived, captive birds in a successive spatial reversal-learning task using automated operant devices. In both captive and natural conditions, more than half of birds that contacted the device were able to perform at least one spatial reversal. Moreover, both captive and wild birds showed an improvement of performance over successive reversals, with very similar learning curves observed in both contexts for each reversal. Our results suggest that it is possible to study cognitive abilities of wild animals directly in their natural environment in much the same way that we study captive animals. Such methods open numerous possibilities to study and understand the evolution and ecology of cognition in natural populations.

[Fortuitous discovery of a Stafne bone cavity in the Cone Beam CT sialography]. / Découverte fortuite d'une lacune de Stafne à la sialographie Cone Beam CT.

The Stafne defect is a benign, asymptomatic, non-progressive and rare bone depression, mainly discovered by chance in the posterior mandibular region. It is described radiographically as an oval radiolucency located below the mandibular canal, in the molar region, close to the submandibular gland. Sialography is a traditional technique in the radiographic examination of salivary glands that involves the injection of an iodine-based contrast medium into the main salivary duct. The Cone Beam Computed Tomography (CBCT) is a 3D imaging technique that has modernized the dental and maxillofacial practice with its advantages such as high speed, good spatial resolution and low radiation exposure. The CBCT Sialography that consists in a 3D Sialography with cone beam offers the same benefits as traditional sialography and allows three-dimensional viewing. It is a new imaging test for an accurate anatomical study of the major salivary glands and their relationships with their environments. The aim of this report is to present a case of Stafne bone cavity containing right submandibular gland tissue, occurring in a 58-year-old man and diagnosed by using CBCT sialography.

[Submandibular swelling four years after total thyroidectomy]. / Tuméfaction submandibulaire quatre ans après thyroïdectomie totale.

INTRODUCTION: Submandibular swelling most frequently involves the submandibular gland. It is often due to lithiasis or to tumor. Some rare cases of submandibular swelling have been reported such as submandibular localizations of thyroid lesions. Our case study concerns one of these rare occurrences. OBSERVATION: A 47-year-old female patient consulted for a right-sided submandibular mass progressively increasing in size during the previous 2 years. The patient had undergone a total thyroidectomy, 4 years before consulting, for a toxic multinodular goiter THAT had been treated by L-thyroxin replacement therapy per os since the surgery. TSH and LT4 levels were normal. A CT scan revealed a large tumor in the right submandibular space with heterogeneous contrast. Fine needle cytopuncture allowed observing follicular cellules suggesting thyroid origin. The cervicotomy confirmed the diagnosis of an ectopic goiter. DISCUSSION: Thyroid disorders may in rare cases concern the submandibular space. A history of thyroid disorders should be taken into account for the etiological diagnosis of unusual submandibular masses in maxillo-facial surgery.

[Jaw osteosarcomas]. / Ostéosarcomes des mâchoires.

INTRODUCTION: Osteosarcoma (OS) is the most frequent bone malignant tumor. It is usually found on long bones, 5 to 10% are located on jaws, accounting for 0.5 to 1% of all facial tumors. There is little published data which concerns only few patients. Our aim was to study retrospectively cases of facial bone OS in adults, and to compare our results with published data to suggest an optimal management scheme. PATIENTS AND METHOD: Thirty-three patients were managed for an OS, from January 1997 to January 2007. Fourteen patients with a maxillary and mandibular OS, treated in first-intention in our unit, were included. The following data were analyzed: age; personal history; circumstance of discovery; clinical, functional, and physical signs; loco-regional extension and metastasis radiological investigation. The histological slides were systematically reviewed. The protocol, therapeutic outcome, and follow-up were studied. RESULTS: The mean age at diagnosis was 43. Swelling was the most frequent functional sign. The mean delay before management was 3.4 months. The most frequent radiological presentation was a lytic and hyperdense image. The diagnosis was suggested after CT scan in 57.1% of cases. The biopsy was correlated to the anatomopathological analysis in 78.6% of cases. The most common treatment was surgical exeresis completed by chemotherapy. The 5-year survival rate was 50%. DISCUSSION: Jaw OS are specific because of their localization and specific bone ultrastructure. Their management remains controversial: should they be managed like limb OS or treated more specifically? Neoadjuvant chemotherapy, even if it delays exeresis for 3 months, seems to stop the growth or reduce the tumor. An early anatomopathological analysis of the surgical piece determines adjuvant therapy. The negative prognostic factors are: maxillary localization because of limited exeresis margins, tumoral size, and osteoblastic sub-type.

Unicystic ameloblastoma of the maxillary sinus: Pitfalls of diagnosis and management.

BACKGROUND: Ameloblastoma is a common odontogenic tumor of the jaws that comprises 3 variants: conventional (solid), unicystic and peripheral ameloblastomas. Unicystic ameloblastoma (UA) in the maxillary sinus is very rare. With a secondary infection, the clinical features may lead to incorrect diagnosis and treatment. PATIENTS AND METHODS: A 19-year-old man was referred for the management of sinusitis and a mass at the right cheek. A few weeks earlier, the patient presented with acute cellulitis at the same area and underwent an incision and drainage in a primary care unit without any appropriate investigation. A radiographic examination revealed a massive lesion in the right maxillary sinus. An unerupted tooth within the lesion was found at the level of the orbital floor. RESULTS: The patient was successfully treated by enucleation of the tumor and curettage. The specimen was sent for histopathological examination, and the definite diagnosis was UA. The patient has been followed-up periodically for 5 years without recurrence. DISCUSSION: This case report suggests that primary care doctors should pay attention to differential diagnosis of orofacial lesions. It is therefore of great benefit to organize continuing education for general physicians who initially meet oral disease patients as a 'gate keeper'. Errors of clinical diagnosis and management of orofacial lesions would be minimized. Pitfalls of diagnosis and management of UA in the maxillary sinus were briefly reviewed.

A treatment algorithm for managing giant mandibular ameloblastoma: 5-year experiences in a Paris university hospital.

AIMS: To review our experiences with giant mandibular ameloblastoma (GMA) over a 5-year period, and to formulate a treatment algorithm for managing this tumour. METHODS: We retrospectively reviewed all GMA patients who underwent segmental mandibulectomy and immediate free fibular osteoseptocutaneous flap reconstruction (SM-IFFOFR) by a single reconstructive team from 2002 to 2006. All treatment methods and outcomes were analysed. FINDINGS: Forty-four ameloblastoma patients were operated upon during this study period. Sixteen cases had GMA, of which 9 patients were included in this series (mean age: 35 years). The defects in the mandible ranged from 7 to 16 cm in length (mean: 12 cm). The average length of the harvested fibula was 11 cm, and the number of osteotomies ranged from 1 to 2. The mean ischemic time was 137 min (range: 90-180 min). Neck recipient vessels were used for flap perfusion in all cases. All but one flaps were viable without any complications, whilst partial skin-island necrosis occurred in 2 patients. Hospital stay was 2 weeks in most of the patients. No tumour recurrence was found during the follow-up period (range: 26-73 months). Dental implants were placed in 2 patients. CONCLUSIONS: Despite several limitations of this study, we suggest that a radical approach with the SM-IFFOFR is an effective treatment for GMA. Further well-designed, larger series with longer follow-up periods are still encouraged.

Management of osteoradionecrosis of the jaws: an analysis of evidence.

AIM: To review and discuss the management of jaw bone osteoradionecrosis (JORN) based on levels of evidence. METHODS: The Medline/PUBMED and Cochrane search was performed to identify all studies on the management of JORN, published in English, French, and German during January 1975-October 2007. Only clinical researches were identified and classified into four levels of evidence before being examined. All references of the retrieved articles were analysed. FINDINGS: Seventy three articles and their additional 45 citations were evaluated. Most of the eligible literature provided observational evidence. Hyperbaric oxygen therapy (HBOT) is an adjunct; however, its clinical usefulness remains controversial. A conservative approach should be limited to early-onset JORN, while radical surgery is indicated for an advanced or refractory lesion. Free tissue transfer is the reconstruction of choice for large defects without the need of HBOT. Some new technologies have also been studied, including ultrasound, biological molecules, distraction osteogenesis and antioxidant agents. CONCLUSIONS: Most of the reports on the treatment of JORN offer weak evidence. Current information seems insufficient for establishing the definite treatment guideline; thus, well-designed studies with long-term clinical data are encouraged.

[Mandibular fractures: epidemiology, therapeutic management, and complications in a series of 563 cases]. / Fractures de la mandibule: épidémiologie, prise en charge thérapeutique et complications d'une série de 563 cas.

INTRODUCTION: The Paris urban and suburban area (Ile-de-France) has the leading regional population in France. This population has specific characteristics. This study concerns mandibular fractures. MATERIAL AND METHOD: A retrospective epidemiologic, clinical, radiographical and therapeutic analysis is conducted with a series of 563 patients with mandibular fracture treated at the Pitié-Salpêtrière University Hospital, in Paris, from 1998 to 2000. RESULTS: Mandibular fracture was generally observed in young men, 40% of whom had poor oral hygiene. The brawls were the dominant etiology (57%) followed by road accidents (12%). The most frequent unifocal fractures were condylar fractures (32%) and angle fractures (32%). The most frequent bifocal mandibular fracture associated angle and symphysis fractures (32%). Osteosynthesis was performed for 73% of patients, including 30% with associated maxillary locking. Complications occurred in 4.8% of the studied cases. DISCUSSION: Despite the increase in traffic, the incidence of road injuries has declined. The first leading and progressing cause of mandibular fractures is brawls. Surgical treatment generally consists in fixation of the bone fracture. Maxillary locking is still associated in 33% of patients, but with a 50% shorter duration. Complications routinely arise because of poor bad oral hygiene.

[Intramedullary pinning for humeral diaphysis fractures. A minimal risk osteosynthesis. 82 cases]. / Embrochage centromédullaire des fractures de la diaphyse humérale. Une ostéosynthèse à risque minimum. A propos de 82 cas.

PURPOSE: This study was designed to evaluate the complication rate of a novel intramedullary pinning technique described in 1988. After 10 years of clinical experience, it was possible to establish a significant difference in terms of healing delay compared with other fixation methods or conservative treatment. MATERIALS AND METHODS: During a 10-year period, a total of 82 fractures, mostly isolated, unstable fractures, were treated. Retrograde intramedullary pinning (RIMP) was used for proximal and midshaft fractures and antegrade pinning (AIMP) for distal fractures. Statistical analysis was used to investigate the role of all parameters that may influence healing delay. RESULTS: 92.7% of the fractures healed in an average time of 9 weeks. Neither location nor fracture type, nor even an intrefragmental gap had any significant influence on healing delay. There were 7 primary axial deviations of more than 10 degrees in which union was achieved and 6 nonunions. These nonunions were mostly proximal fractures and inappropriate fixation. No radial nerve injury, no infection, and no deterioration of the fracture site was observed. There were 27 pin migrations, mainly towards the shoulder, which dit not affect the final anatomic and functional outcome. Functional result was good in 88% of cases. Four algodystrophy syndromes and 6 nonunions induced stiffness, mainly in the shoulder. DISCUSSION: Intramedullary pinning using this technique did not induce any severe iatrogenic condition. Healing delay compares favorably with better results of conservative treatment. Improving surgical technique should further minimize disadvantages of this method. CONCLUSION: Humeral intramedullary pinning technique has a low complication rate. It is a good compromise between conservative treatment and conventional osteosynthesis. It causes little trauma to the patients, allows stabilization of any fracture site, and delay to bone union is similar to that with conservative treatment.