980 resultados para skull defect
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Background: The use of synthetic mesh for abdominal wall closure after removal of the rectus abdominis is established but not standardised. This study compares two forms of mesh fixation: a simple suture, which fixes the mesh to the edges of the defect on the anterior rectus abdominis fascia; and total fixation, which incorporates the fasciae of the internal oblique, external oblique and transverse muscles in the suture, anchoring the mesh in the position of the removed muscle. Method: A total of 16 fresh cadavers were dissected. Two sutures were compared: simple and total. Three different sites were analysed: 5 cm above, 5 cm below and at the level of the umbilicus. The two sutures compared were tested in each region using a standardised technique. All sutures were performed with nylon 0, perpendicular to the linea alba. Each suture was secured to a dynamometer, which was pulled perpendicularly towards the midline until the rupture of the aponeurosis. `Rupture resistance` was measured in kilogram force. The mean among the groups was compared using the paired Student`s t-test to a significance level of 1% (p < 0.01). Results: The mean rupture resistance of the total suture was 160% higher than that of the simple suture. Conclusion: The total suture includes the external oblique, internal oblique and transverse fasciae, which are multi-directional, and creates a much higher resistance when compared with the simple suture. Total suture may reduce the incidence of bulging and hernias of the abdominal wall after harvesting the rectus abdominis muscle, but comparative clinical studies are necessary. (C) 2010 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
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Introduction: A resorbable collagen matrix with recombinant human bone morphogenetic protein (rhBMP-2) was compared with traditional iliac crest bone graft for the closure of alveolar defects during secondary dental eruption. Methods: Sixteen patients with unilateral cleft lip and palate, aged 8 to 12 years, were selected and randomly assigned to group 1 (rhBMP-2) or group 2 (iliac crest bone graft). Computed tomography was performed to assess both groups preoperatively and at months 6 and 12 postoperatively. Bone height and defect volume were calculated through Osirix Dicom Viewer (Pixmeo, Apple Inc.). Overall morbidity was recorded. Results: Preoperative and follow-up examinations revealed progressive alveolar bone union in all patients. For group 1, final completion of the defect with a 65.0% mean bone height was detected 12 months postoperatively. For group 2, final completion of the defect with an 83.8% mean bone height was detected 6 months postoperatively. Dental eruption routinely occurred in both groups. Clinical complications included significant swelling in three group 1 patients (37.5%) and significant donor-site pain in seven group 2 patients (87.5%). Conclusions: For this select group of patients with immature skeleton, rhBMP-2 therapy resulted in satisfactory bone healing and reduced morbidity compared with traditional iliac crest bone grafting.
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A 14-year-old patient had a low-energy facial blunt trauma that evolved to right facial paralysis caused by parotid hematoma with parotid salivary gland lesion. Computed tomography and angiography demonstrated intraparotid collection without pseudoaneurysm and without radiologic signs of fracture in the face. The patient was treated with serial punctures for hematoma deflation, resolving with regression and complete remission of facial paralysis, with no late sequela. The authors discuss the relationship between facial nerve traumatic injuries associated or not with the presence of facial fractures, emphasizing the importance of early recognition and appropriate treatment of such cases.
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The Tessier no. 5 facial cleft is an extremely rare congenital malformation. Only 26 cases have been described In the English-language literature. The cleft begins In the upper lip just medial to the oral commissure, extending across the cheek as a groove ending at the junction of the middle and lateral thirds of the lower eyelid. The bone Involvement usually Includes an alveolar cleft in the premolar region, extends across the maxilla lateral to the Infraorbital nerve, up to the infraorbital rim and orbital floor. The goals of the surgical procedure Include reconstructing the lower eyelid, repositioning the lateral canthus, closure of the labiomaxillary cleft, and restoration of the skeletal continuity (including the orbital floor defect) with bone grafts. We present six patients with the Tessier no. 5 facial cleft who have been treated in our combined centers and discuss the surgical options and difficulties faced in the reconstruction of this rare and challenging craniofacial malformation. To date, we have treated six patients (two with bilateral and four with unilateral clefts). Three of the patients with unilateral clefting had an associated no. 4 cleft and one patient with a bilateral cleft had an associated no. 3 cleft. This paper represents the largest series to date documenting surgery for patients with the Tessier no. 5 facial cleft.
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Introduction: Perineural invasion is a well-recognized form of cancer dissemination. However, it has been reported only in few papers concerning cutaneous carcinomas ( basal cell, BCC, and squamous cell, SCC). Moreover, the incidence is considered to be very low. Niazi and Lambert [Br J Plast Surg 1993; 46: 156-157] reported only 0.18% of perineural invasion among 3,355 BCCs. It is associated with high-risk subtypes, as morphea-like, as well as with an increased risk of local recurrence. No paper was found in the literature looking for perineural invasion in very aggressive skin cancers with skull base extension, with immunohistochemical analysis. Methods: This is a retrospective review, including 35 very advanced skin carcinomas with skull base invasion (24 BCCs and 11 SCCs, operated on at a single institution from 1982 to 2000). Representative slides were immunohistochemically evaluated with antiprotein S-100, in order to enhance nerve fibers and to detect perineural invasion. The results were compared to 34 controls with tumors with a good outcome, treated in the same time frame at the same Institution. Results: Twelve (50.0%) of the BCCs with skull base invasion had proven perineural invasion, as opposed to only 1 (4.6%) of the controls, and this difference was statistically significant (p < 0.001). Regarding SCCs, 7 aggressive tumors (63.6%) showed perineural invasion compared to only 1 (10.0%) of the controls, but this difference did not reach significance (p=0.08), due to the small number of cases. Conclusions: In this series, it was demonstrated that immunohistochemically detected perineural invasion was very prevalent in advanced skin carcinomas. In addition, it was statistically associated with extremely aggressive BCCs with skull base invasion. Copyright (c) 2008 S. Karger AG, Basel
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Background: Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects in human beings. In this study, we evaluated the presence and frequency of mutations in the NKX2.5 gene on 159 unrelated patients with a diverse range of non-syndromic congenital heart defects (conotruncal anomalies, septal defects, left-sided lesions, right-sided lesions, patent ductus arteriosus and Ebstein`s anomaly). Methods: The coding region of the NKX2.5 locus was amplified by polymerase chain reaction and mutational analysis was performed using denaturing high performance liquid chromatography (DHPLC) and DNA sequencing. Results: We identified two distinct mutations in the NKX2.5 coding region among the 159 (1.26%) individuals evaluated. An Arg25Cys mutation was identified in a patient with Tetralogy of Fallot. The second mutation found was an Ala42Pro in a patient with Ebstein`s anomaly. Conclusions: The association of NKX2.5 mutations is present in a small percentage of patients with non-syndromic congenital heart defects and may explain only a few cases of the disease. Screening strategies considering the identification of germ-line molecular defects in congenital heart disease are still unwarranted and should consider other genes besides NKX2.5. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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Objectives: To identify the causes of death and main cardiovascular complications in adolescents and adults with congenitally malformed hearts. Design: Retrospective review of 102 necropsy reports from a tertiary centre obtained over a period of 19 years. Methods: The diagnosis, the operated or non-operated state of the main defect, the cause of death, and main complications were related to the age and gender. Other clinically relevant conditions, and identifiable sequels of previous diseases, were also noted. Results: The ages ranged from 15 to 69 years, with a mean of 31.1 and a median of 28 years, with no difference detected according to the gender. Of the patients, two-thirds had been submitted to at least one cardiac surgery. The mean age of death was significantly higher in non-operated patients (p = 0.003). The most prevalent cause of death in the whole group was related to recent surgery, found in one-third. From them, two-fifths corresponded to reoperations. Among the others, cardiac failure was the main terminal cause in another third, and the second cause was pulmonary thromboembolism in just over one-fifth, presenting a significant association with histopathological signs of pulmonary hypertension (p = 0.011). Infection was the cause of death in 7.8% of the patients, all previously operated. Acute infective endocarditis was present or was the indication for the recent surgery in one-tenth of the patients, this cohort having a mean age of 27.8 years. There was a statistically significant association between the occurrence of endocarditis and defects causing low pulmonary blood flow (p = 0.043). Conclusions: Data derived from necropsies of adults with congenital heart defects can help the multidisciplinary team refine both their diagnosis and treatment.
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Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, have been demonstrated to be the underlying molecular alteration in individuals with different congenital cardiac disorders, notably the Holt-Oram syndrome. Methods: Six members from a two-generation family from a consanguineous couple, which had atrial septal defects associated with postaxial hexodactyly in all extremities were clinically assessed and submitted to TBX5 mutational analysis performed by direct sequencing. Results: We detected a new TBX5 missense mutation (V263M) in all four individuals studied with cardiac abnormalities. The genotype phenotype correlations in light of unusual features are extensively discussed, as well as the possible significance of these atypical findings. Conclusions: These new data extend our clinical and molecular knowledge of TBX5 gene mutations and also raise interesting questions about the phenotype heterogeneity regarding these gene alterations. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic or familial cases of TOF. The aim of the present study was to investigate the frequency of del22q11 in patients with non-syndromic TOF seen at a tertiary Pediatric Cardiology care center. Method: One hundred and twenty three non-syndromic TOF patients were selected and evaluated by history, physical examination and review of medical records. Venous blood was drawn for genomic DNA extraction after informed consent 22q11 microdeletion diagnosis was conducted through a standardized SNP genotyping assay and consecutive homozygosity mapping. Phenotype-genotype correlations regarding cardiac anatomy were conducted. Results: We evaluated 123 non-syndromic TOF patients for a 22q11 deletion. 105 (85.4%) patients presented pulmonary stenosis and 18 (14.6%) had pulmonary atresia. Eight patients (6.5%) were found to have a deletion. Of the deleted patients, three (37.5%) presented pulmonary atresia. We have verified a tendency towards a higher prevalence of pulmonary atresia when comparing TOF patients with and without 22q11 microdeletion. Conclusions: 22q11.2 deletion in non-syndromic TOF patients is present in approximately 6% of patients. We suggest a tendency towards a higher prevalence of pulmonary atresia in non-syndromic TOF patients with 22q11 microdeletion. Molecular genetic screening of non-syndromic TOF patient may be important for the correct care of these patients and a more specific genetic diagnostic and counseling. (C) 2007 Elsevier Ireland Ltd. All rights reserved.
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Scanning electronmicroscopy (SEM) has been used in forensic science in many ways. The reports of cases in which SEM has been used as an auxiliary method in the investigation of exhumed bones are rare. In this article, we report an exhumation that was made to determine if a seized weapon could have been used in a homicide. We used SEM to analyze a fracture in the interior of the skull of the victim. The findings described in this article showed us that it is possible to develop new researches in this field. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
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Conclusion: The cochlear implant was beneficial as an attempt to restore hearing and improve communication abilities in this patient with profound sensorineural hearing loss secondary to Susac syndrome. Objective: To report the audiological outcomes of cochlear implantation (CI) in a young woman with Susac syndrome after a 6-month follow-up period. Susac syndrome is a rare disorder. It is clinically characterized by a typical triad of sensorineural deafness, encephalopathy, and visual defect, due to microangiopathy involving the brain, inner ear, and retina. Methods: This was a retrospective review of a case at a tertiary referral center. After diagnosis, the patient was evaluated by a multidisciplinary team and received a cochlear implant in her right ear. Results: The patient achieved 100% open-set sentence recognition in noise conditions and 92% monosyllable and 68% medial consonant recognition in quiet conditions after 6 months of implant use. She reported the use of the telephone 3 months after activation.
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PURPOSE: To compare the ability of Fourier-domain (FD) optical coherence tomography (3D OCT-1000; Top, con, Tokyo, Japan) and time domain (TD) OCT (Stratus; Carl Zeiss Meditec Inc, Dublin, California, USA) to detect axonal loss in eyes with band atrophy (BA) of the optic nerve. DESIGN: Cross-sectional study. METHODS: Thirty-six eyes from 36 patients with BA and temporal visual field (VF) defect from chiasmal compression and 36 normal eyes were studied. Subjects were submitted to standard automated perimetry and macular and retinal nerve fiber layer (RNFL) measurements were taken using 3D OCT-1000 and Stratus OCT. Receiver operating characteristic (ROC) curves were calculated for each parameter. Spearman correlation coefficients were obtained to evaluate the relationship between RNFL and macular thickness parameters and severity of VF loss. Measurements from the two devices were compared. RESULTS: Regardless of OCT device, all RNFL and macular thickness parameters were significantly lower in eyes with BA compared with normal eyes, but no statistically significant difference was found with regard to the area under the ROC curve. Structure-function relationships were also similar for the two devices. In both groups, RNFL and macular thickness measurements were generally and in some cases significantly smaller with 3D OCT-1000 than with Stratus OCT. CONCLUSIONS: The introduction of FD technology did not lead to better discrimination ability for detecting BA of the optic nerve compared with TD technology when using the software currently provided by the manufacturer. 3D OCT-1000 FD OCT RNFL and macular measurements were generally smaller than TD Stratus OCT measurements. Investigators should be aware of this fact when comparing measurements obtained with these two devices. (Am J Oplathalmol 2009;147: 56-63. (c) 2009 by Elsevier Inc. All rights reserved.)
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to test the ability of frequency-doubling technology (FDT) perimetry to detect dysthyroid optic neuropathy (DON). Fifteen eyes of 15 patients with DON and 15 healthy control eyes were studied. Eligible eyes had a diagnosis of DON based on visual field abnormalities on standard automated perimetry and had visual acuity better than 20/30. FDT testing was performed using both the C-20-5 screening test and the C-20 full-threshold test. Normal and DON eyes were compared with regard to FDT mean sensitivity. Sensitivity ranges were 40.0%-86.7% for the screening test, and 53.3%-100.0% (total deviation) and 20.0-93.3 (pattern deviation) for the C-20 threshold test. The corresponding specificity ranges were 86.7-100.0, 33.3-93.3, and 26.7-100.0, respectively. The best sensitivity/specificity ratios were for one abnormal point depressed < 5% in the screening test (86.7%/86.7%), one point depressed < 1% in the total deviation analysis (80.0%/86.7%), and one point depressed < 2% in the pattern deviation analysis (80.0%/86.7%). DON eyes presented significantly lower than normal average sensitivity in the central, pericentral, and peripheral areas. FDT perimetry is a useful screening tool for DON in eyes with normal or only slightly reduced visual acuity.
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Otitis media with effusion (OME) affects 28-38% of pre-school children, and it occurs due to the dysfunction of the auditory tube. Anatomical development of the auditory tube depends on the craniofacial growth and development. Deviations of normal. craniofacial. morphology and growth using cephatometric studies, may predict the evolution of otitis. Our goal in this paper is to determine if there are differences in craniofacial morphology between children with adenoid enlargement, with and without otitis media with effusion. This is a prospective study in which the sample consisted of 67 children (mate and female) from 5 to 10 years old. All patients presented chronic upper airway obstruction due to tonsil. and adenoid enlargement (>80% degree of obstruction). Thirty-three patients presented otitis media with effusion, for more than 3 months and 34 did not. The tatter composed the control group. Standardized lateral head radiographs were obtained for all. subjects. Radiographs were taken with patient positioned by a cephalostat and stayed with mandibles in centric occlusion and Lips at rest. Radiographs were digitalized and specific Landmarks were identified using a computer program Radiocef 2003, 5th edition. Measurements, angles and tines were taken of the basicranium, maxilla and mandible according to the modified Ricketts analysis. In addition, facial height and facial axis were determined. Children with otitis media with effusion present differences in the morphology of the face, regarding these measures: N-S (anterior cranial base length), N-ANS (upper facial height), ANS-PNS (size of the hard palate), Po-Or.N-Pog (facial depth), Ba-N.Ptm-Gn (facial axis), Go-Me (mandibular Length) and Vaia--Vaip (inferior pharyngeal airway). (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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Aim To compare the ability of scanning laser polarimeter (SLP) with variable corneal compensation (GDx VCC) and optical coherence tomograph (Stratus OCT) to discriminate between eyes with band atrophy (BA) of the optic nerve and healthy eyes. Methods The study included 37 eyes with BA and temporal visual field (VF) defects from chiasmal compression, and 29 normal eyes. Subjects underwent standard automated perimetry (SAP) and retinal nerve fibre layer (RNFL) scans using GDx VCC and Stratus OCT. The severity of the VF defects was evaluated by the temporal mean defect (TMD), calculated as the average of 22 values of the temporal total deviation plot on SAP. Receiver operating characteristic (ROC) curves were calculated. Pearson`s correlation coefficients were used to evaluate the relationship between RNFL thickness parameters and the TMD. Results No significant difference was found between the ROC curves areas (AUCs) for the GDx VCC and Stratus OCT with regard to average RNFL thickness (0.98 and 0.99, respectively) and the superior (0.94; 0.95), inferior (0.96; 0.97), and nasal (0.92; 0.96) quadrants. However, the AUC in the temporal quadrant (0.77) was significantly smaller (P < 0.001) with GDx VCC than with Stratus OCT (0.98). Lower TMD values were associated with smaller RNFL thickness in most parameters from both equipments. Conclusion Adding VCC resulted in improved performance in SLP when evaluating eyes with BA, and both technologies are sensitive in detecting average, superior, inferior, and nasal quadrant RNFL loss. However, GDx VCC still poorly discriminates RNFL loss in the temporal quadrant when compared with Stratus OCT.