72 resultados para craniofacial malformation


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Tentorial dural arteriovenous fistula (DAVF) is a rare vascular disease, which accounts for less than 4% of all cases of intracranial DAVF Because of the high risk of intracranial hemorrhage, patients with tentorial DAVF need aggressive treatment. Management approaches are still controversial, and endovascular treatment has emerged as an effective alternative. In the current work, we describe our experience with the endovascular approach in the treatment of these deep and complex DAVF of the tentorium. Eight patients were treated between January 2006 and July 2009. Six patients (75%) presented with intracranial hemorrhage related to the DAVF rupture. Four patients (50%) had subarachnoid bleeding and two had intraparenchymal hematoma. Endovascular treatment was performed via the transarterial route alone in five cases (62.5%), by the transvenous approach in two cases (25.0%) and in a combined procedure using both arterial and venous routes in one patient (12.5%). Complete obliteration of the fistula was achieved in all cases. The outcome at 15 months was favorable (modified Rankin scale 0-3) in seven (87.5%) patients. Complete cure of the lesion was confirmed in these cases. This paper reports on the effectiveness of endovascular treatment in tentorial DAVF management The choice of the venous versus the arterial approach is determined by regarding different anatomical dispositions.

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Object. The aim of this study was to describe the surgical anatomy of the mediobasal aspect of the temporal lobe and the supracerebellar transtentorial (SCTT) approach performed not with an opening, but with the resection of the tentorium, as an alternative route for the neurosurgical management of vascular and tumoral lesions arising from this region. Methods. Cadaveric specimens were used to illustrate the surgical anatomy of the mediobasal region of the temporal lobe. Demographic aspects, characteristics of lesions, clinical presentation, surgical results, follow-up findings, and outcomes were retrospectively reviewed for patients referred to receive the SCTT approach with tentorial resection. Results. Ten patients (83%) were female and 2 (17%) were male. Their ages ranged from 6 to 59 years (mean 34.5 +/- 15.8 years). All lesions (3 posterior cerebral artery aneurysms, 3 arteriovenous malformations, 3 cavernous malformations, and 3 tumors) were completely excluded or resected. After a mean follow-up period of 143 months (range 10-240 months), the mean postoperative Glasgow Outcome Scale score was 4.9. Conclusions. Knowledge of the surgical anatomy provides improvement for microsurgical approaches. The evolution from a small opening to a resection of the tentorium absolutely changed the exposure of the mediobasal aspect of the temporal lobe. The SCTT approach with tentorial resection is an excellent alternative route to the posterior part of mediobasal aspect of the temporal lobe, and it was enough to achieve the best neurosurgical management of tumoral and vascular lesions located in this area. (http://thejns.org/doi/abs/10.3171/2011.12.JNS111256)

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The main purposes of this manuscript are to provide an overview of various modalities of surgical correction of anterior plagiocephaly and to emphasize their differences with the classic open frontal-orbital advancement. Advancement of technology provides development of many other ways to achieve the same results. The authors describe the classic open frontal-orbital advancement and compare with other proposed techniques for correction of frontal plagiocephaly. The main limitation of the use of new forms of treatment of the anterior plagiocephaly is the age of the patient. There is still no consensus on criteria for quantitative evaluation of surgical results, and new forms of treatment do not present results with long follow-up. Frontal-orbital advancement is the preferred procedure to correct unicoronal synostosis due to its universal indication regardless of the age and degree of deformation of the anterior plagiocephaly.

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The central granular cell odontogenic tumor (CGCOT) is a rare benign odontogenic neoplasm composed of varying amounts of large eosinophilic granular cells and apparently inactive odontogenic epithelium. It tends to occur as a small asymptomatic swelling in the posterior region of the mandible with nonaggressive appearance. We report an unusual case of CGCOT in the maxillary region with clinical features of malignancy. The patient underwent surgical treatment, and the 2-year follow-up revealed no signs of recurrence. Central granular cell odontogenic tumor is a very rare condition with few cases reported, especially in the maxillary region. This case highlights the possibility of aggressive behavior by these lesions.

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Two cases of swallowing of foreign material related to dental implants during dental practice are described. A conservative approach by clinical-radiographic follow-up was performed in both cases; however, one of the patients required colonoscopy under general anesthesia for the removal of the impacted foreign body from the intestinal region. These complications not only have associated economic cost but also carry the risk of malpractice litigation against the professional; thus, the surgeon was responsible for all the costs of hospital and surgery management of this case. Details of the clinical signs, radiographic examinations, type of treatment, and follow-up are presented.

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Cone beam computed tomography (CBCT) can be considered as a valuable imaging modality for improving diagnosis and treatment planning to achieve true guidance for several craniofacial surgical interventions. A new concept and perspective in medical informatics is the highlight discussion about the new imaging interactive workflow. The aim of this article was to present, in a short literature review, the usefulness of CBCT technology as an important alternative imaging modality, highlighting current practices and near-term future applications in cutting-edge thought-provoking perspectives for craniofacial surgical assessment. This article explains the state of the art of CBCT improvements, medical workstation, and perspectives of the dedicated unique hardware and software, which can be used from the CBCT source. In conclusion, CBCT technology is developing rapidly, and many advances are on the horizon. Further progress in medical workstations, engineering capabilities, and improvement in independent software-some open source-should be attempted with this new imaging method. The perspectives, challenges, and pitfalls in CBCT will be delineated and evaluated along with the technological developments.

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The present article discusses an atrophic maxilla reconstruction with iliac crest bone block and particulate grafts and dental implants. Onlay block grafts were used to restore bone volume of the anterior maxilla, whereas bilateral sinus floor augmentation was performed using a particulate graft. Ten months after the grafting surgery, 9 dental implants were placed to rehabilitate the case. Results of a 7-year follow-up were obtained clinically and by cone beam computed tomographic images.

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SET protein (I2PP2A) is an inhibitor of PP2A, which regulates the phosphorylated Akt (protein kinase B) levels. We assessed the effects of SET overexpression in HEK293T cells, both in the presence and the absence of mild oxidative stress induced by 50 mu M tert-butyl hydroperoxide. Immunoblotting assays demonstrated that SET accumulated in HEK293T cells and increased the levels of phosphorylated Akt and PTEN; in addition, SET decreased glutathione antioxidant defense of cell and increased expression of genes encoding antioxidant defense proteins. Immunofluorescence analysis demonstrated that accumulated SET was equally distributed in cytoplasm and nucleus; however, in cells that had been exposed to oxidative stress, SET was found in large aggregates in the cytoplasm. SET accumulation in HEK293T cells correlated with inhibition of basal apoptosis as evidenced by a decrease in annexin V staining and activity of caspases; under mild oxidative stress, SET accumulation correlated with caspase-independent cell death, as evidenced by increased PI and annexin V/PI double staining. The results suggest that accumulated SET could act via Akt/PTEN either as cell survival signal or as oxidative stress sensor for cell death.

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There has been a significant increase in the number of facial fractures stemming from sport activities in recent years, with the nasal bone one of the most affected structures. Researchers recommend the use of a nose protector, but there is no standardization regarding the material employed. Clinical experience has demonstrated that a combination of a flexible and rigid layer of ethylene vinyl acetate (EVA) offers both comfort and safety to practitioners of sports. The aim of the present study was the investigation into the stresses generated by the impact of a rigid body on the nasal bone on models with and without an EVA protector. For such, finite element analysis was employed. A craniofacial model was constructed from images obtained through computed tomography. The nose protector was modeled with two layers of EVA (1 mm of rigid EVA over 2 mm of flexible EVA), following the geometry of the soft tissue. Finite element analysis was performed using the LS Dyna program. The bone and rigid EVA were represented as elastic linear material, whereas the soft tissues and flexible EVA were represented as hyperelastic material. The impact from a rigid sphere on the frontal region of the face was simulated with a constant velocity of 20 m s-1 for 9.1 mu s. The model without the protector served as the control. The distribution of maximal stress of the facial bones was recorded. The maximal stress on the nasal bone surpassed the breaking limit of 0.130.34 MPa on the model without a protector, while remaining below this limit on the model with the protector. Thus, the nose protector made from both flexible and rigid EVA proved effective at protecting the nasal bones under high-impact conditions.

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Objective To evaluate the perinatal outcomes in hydropic fetuses with congenital microcystic pulmonary lesions that underwent percutaneous, invasive, laser therapy. Method This retrospective study reviews the literature and our experience between 2004 and 2010. Characteristics of the cystic lung lesions, liquor volume (presence of polyhydramnios or not), localization of ablation (vascular vs interstitial) and gestational age at which the procedure was performed were related to outcome (survival). Results In total, 16 fetuses with congenital lung lesions underwent invasive percutaneous laser ablation, seven performed in our center and nine published cases. Survival rate was higher in fetuses with a subsequent postnatal diagnosis of bronchopulmonary sequestration (87.5%) compared with congenital adenomatoid malformation (28.6%; p?=?0.04). The technique of vascular ablation was more successful (100%) than interstitial ablation (25.0%, p?<?0.01). Conclusion Percutaneous vascular laser ablation seems to be effective for bronchopulmonary sequestration in hydropic fetuses. Outcomes were worst following interstitial ablation for microcystic congenital adenomatoid with hydrops. (C) 2012 John Wiley & Sons, Ltd.

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Background: Genome-wide association studies (GWAS) require large sample sizes to obtain adequate statistical power, but it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility of automatically retrieving information from the medical literature and leveraging this information in GWAS. Methods: We developed a method that searches through PubMed abstracts for pre-assigned keywords and key concepts, and uses this information to assign prior probabilities of association for each single nucleotide polymorphism (SNP) with the phenotype of interest - the Adjusting Association Priors with Text (AdAPT) method. Association results from a GWAS can subsequently be ranked in the context of these priors using the Bayes False Discovery Probability (BFDP) framework. We initially tested AdAPT by comparing rankings of known susceptibility alleles in a previous lung cancer GWAS, and subsequently applied it in a two-phase GWAS of oral cancer. Results: Known lung cancer susceptibility SNPs were consistently ranked higher by AdAPT BFDPs than by p-values. In the oral cancer GWAS, we sought to replicate the top five SNPs as ranked by AdAPT BFDPs, of which rs991316, located in the ADH gene region of 4q23, displayed a statistically significant association with oral cancer risk in the replication phase (per-rare-allele log additive p-value [p(trend)] = 2.5 x 10(-3)). The combined OR for having one additional rare allele was 0.83 (95% CI: 0.76-0.90), and this association was independent of previously identified susceptibility SNPs that are associated with overall UADT cancer in this gene region. We also investigated if rs991316 was associated with other cancers of the upper aerodigestive tract (UADT), but no additional association signal was found. Conclusion: This study highlights the potential utility of systematically incorporating prior knowledge from the medical literature in genome-wide analyses using the AdAPT methodology. AdAPT is available online (url: http://services.gate.ac.uk/lld/gwas/service/config).

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This manuscript reports an uncommon case of inferior third molar facial abscess with purulent secretion drainage through the left external acoustic meatus. The patient's left external acoustic meatus was filled with a purulent secretion observed on a CT scan. He underwent surgery to drain the facial abscess. Despite facial abscesses being routine occurrences, the literature does not contain many case reports of odontogenic facial abscesses with drainage via the external acoustic meatus. These situations occur in two possible ways: multiple fissures in the anterior wall of the cartilaginous portion of the external acoustic meatus; and congenital defects that are occasionally present in the anterior-superior aspect of the external acoustic meatus, known as the foramen of Huschke, which allow communication between the external acoustic meatus and mandibular fossa. These defects may also predispose the patient to the spread of the infection or tumour from the external auditory canal to the infratemporal fossa and vice versa. No otological sequelae were observed in this case. The authors conclude that the hypothesis of bone malformation cannot be excluded, and affirm that any facial abscess requires appropriate and immediate treatment for adequate resolution, by removing the causal factor and providing systemic support.

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BACKGROUND: Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24.21 region, has been consistently replicated in European populations. We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population. METHODS: We performed the association study conditioned on the individual ancestry proportions in a sample of 563 patients and 336 controls, and in an independent sample of 221 patients and 261 controls. The correlation between rs987525 genotypes and MYC transcriptional levels in orbicularis oris muscle mesenchymal stem cells was also investigated in 42 patients and 4 controls. RESULTS: We found a significant association in the larger sample (p = 0.0016; OR = 1.80 [95% confidence interval {CI}, 1.21-2.69], for heterozygous genotype, and 2.71 [95% CI, 1.47-4.96] for homozygous genotype). We did not find a significant correlation between rs987525 genotypes and MYC transcriptional levels (p = 0.14; r = -0.22, Spearman Correlation). CONCLUSIONS: We present a positive association of rs987525 in the Brazilian population for the first time, and it is likely that the European contribution to our population is driving this association. We also cannot discard a role of rs987515 in MYC regulation, because this locus behaves as an expression quantitative locus of MYC in another tissue. Birth Defects Research (Part A) 94:464-468, 2012. (C) 2012 Wiley Periodicals, Inc.

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Sinus floor augmentation has been established as a predictable technique to overcome maxillary bone loss. Antral cystic lesions may lead to intrasurgical complications and should be accurately diagnosed. However, antral pseudocysts have recently been described not to be contraindicated for sinus-grafting procedures. The current article sought to report clinical, cone beam computed tomographic, and histologic results of a maxillary sinus floor augmentation, performed with piezoelectric surgery, in the presence of a large antral pseudocyst. Success of graft maturation was confirmed with histologic analysis, which also indicated the absence of inflammatory infiltration in the tissue evaluated. On the basis of our findings, it is possible to perform a predictable treatment based on sinus floor augmentation in the presence of antral pseudocysts. Graft maturation can also be achieved 6 months after sinus-lifting surgeries.

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Facial reconstruction is a method that seeks to recreate a person's facial appearance from his/her skull. This technique can be the last resource used in a forensic investigation, when identification techniques such as DNA analysis, dental records, fingerprints and radiographic comparison cannot be used to identify a body or skeletal remains. To perform facial reconstruction, the data of facial soft tissue thickness are necessary. Scientific literature has described differences in the thickness of facial soft tissue between ethnic groups. There are different databases of soft tissue thickness published in the scientific literature. There are no literature records of facial reconstruction works carried out with data of soft tissues obtained from samples of Brazilian subjects. There are also no reports of digital forensic facial reconstruction performed in Brazil. There are two databases of soft tissue thickness published for the Brazilian population: one obtained from measurements performed in fresh cadavers (fresh cadavers' pattern), and another from measurements using magnetic resonance imaging (Magnetic Resonance pattern). This study aims to perform three different characterized digital forensic facial reconstructions (with hair, eyelashes and eyebrows) of a Brazilian subject (based on an international pattern and two Brazilian patterns for soft facial tissue thickness), and evaluate the digital forensic facial reconstructions comparing them to photos of the individual and other nine subjects. The DICOM data of the Computed Tomography (CT) donated by a volunteer were converted into stereolitography (STL) files and used for the creation of the digital facial reconstructions. Once the three reconstructions were performed, they were compared to photographs of the subject who had the face reconstructed and nine other subjects. Thirty examiners participated in this recognition process. The target subject was recognized by 26.67% of the examiners in the reconstruction performed with the Brazilian Magnetic Resonance Pattern, 23.33% in the reconstruction performed with the Brazilian Fresh Cadavers Pattern and 20.00% in the reconstruction performed with the International Pattern, in which the target-subject was the most recognized subject in the first two patterns. The rate of correct recognitions of the target subject indicate that the digital forensic facial reconstruction, conducted with parameters used in this study, may be a useful tool. (C) 2011 Elsevier Ireland Ltd. All rights reserved.