Browsing by resource type "journal article"
Now showing 1 - 10 of 1793
Results Per Page
Sort Options
- 18F-FDG-PET/CT in diagnosis of Q fever endocarditisPublication . Domingues, CM; Ferreira, MJ; Silva, R; Gonçalves, V; Silva, AM; Gonçalves, L
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaPublication . Gilling, M; Lauritsen, MB; Møller, M; Henriksen, KF; Vicente, A; Oliveira, G; Cintin, C; Eiberg, H; Andersen, PS; Mors, O; Rosenberg, T; Brøndum-Nielsen, K; Cotterill, RM; Lundsteen, C; Ropers, HH; Ullmann, R; Bache, I; Tümer, Z; Tommerup, NAutism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
- 3D virtual planning in orthognathic surgery and CAD/CAM surgical splints generation in one patient with craniofacial microsomia: a case reportPublication . Vale, F; Scherzberg, J; Cavaleiro, J; Sanz, D; Caramelo, F; Maló, L; Marcelino, JPOBJECTIVE: In this case report, the feasibility and precision of tridimensional (3D) virtual planning in one patient with craniofacial microsomia is tested using Nemoceph 3D-OS software (Software Nemotec SL, Madrid, Spain) to predict postoperative outcomes on hard tissue and produce CAD/CAM (Computer Aided Design/Computer Aided Manufacturing) surgical splints. METHODS: The clinical protocol consists of 3D data acquisition of the craniofacial complex by cone-beam computed tomography (CBCT) and surface scanning of the plaster dental casts. The ''virtual patient'' created underwent virtual surgery and a simulation of postoperative results on hard tissues. Surgical splints were manufactured using CAD/CAM technology in order to transfer the virtual surgical plan to the operating room. Intraoperatively, both CAD/CAM and conventional surgical splints are comparable. A second set of 3D images was obtained after surgery to acquire linear measurements and compare them with measurements obtained when predicting postoperative results virtually. RESULTS: It was found a high similarity between both types of surgical splints with equal fitting on the dental arches. The linear measurements presented some discrepancies between the actual surgical outcomes and the predicted results from the 3D virtual simulation, but caution must be taken in the analysis of these results due to several variables. CONCLUSIONS: The reported case confirms the clinical feasibility of the described computer-assisted orthognathic surgical protocol. Further progress in the development of technologies for 3D image acquisition and improvements on software programs to simulate postoperative changes on soft tissue are required
- AB0747 MATERNAL AND FETAL OUTCOMES IN PREGNANT WOMEN WITH JUVENILE IDIOPATHIC ARTHRITIS: A SYSTEMATIC LITERATURE REVIEWPublication . Pinheiro Torres, R; Fernandes Lourenco, MH; Neto, A; Pimentel Dos Santos, F; Silva, I; Mourão, AF; Donato, H; Costa, M; Branco, J
- Abcesso hepático piogénico: 4 casos clínicosPublication . Ferreira, P; Oliveira, J; Leitão, S; Rodrigues, A; Alves, F; Simão, A; Almiro, E; Porto, A
- Abcesso hepático piogénico: a propósito de um caso clínicoPublication . Germano, E; Silva, C; Figueiredo, A; Sá, A
- Aberrant crypt foci: endoscopic assessment and cell kinetics characterizationPublication . Figueiredo, P; Donato, MM; Urbano, M; Goulão, H; Gouveia, H; Sofia, C; Leitão, M; Freitas, DBACKGROUND AND AIMS: Aberrant crypt foci (ACF) are preneoplastic lesions in animal models of colorectal cancer. The aim of the study is to investigate if ACF are involved in human colorectal carcinogenic process and if they can be helpful in predicting the presence of a colorectal neoplasia. METHODS: The study included, between 2003 and 2005, 182 patients, 62 with adenoma, 55 with colorectal carcinoma, 53 without colorectal lesions, and 12 with nonneoplastic mucosal polyps. The number of rectal ACF was determined by colonoscopy. Proliferation and apoptosis indexes were evaluated by immunohistochemistry in rectal ACF, in normal rectal mucosa, and in carcinomatous tissue. RESULTS: The mean number of rectal ACF in patients with rectal neoplasia was 12.64, significantly higher than in patients with neoplastic lesions elsewhere in the colon (p=0.01). The apoptosis index in ACF of patients with colorectal carcinoma or adenoma aged 50 years or older was significantly lower than in younger patients (1.3% vs 2.7%, p=0.01) and, in patients with carcinoma, lower than in normal mucosa (1.1% vs 2.1%, p=0.002). The proliferation index was significantly higher in ACF of patients with colorectal neoplasia aged less than 50 years than in normal mucosa (10.9% vs 7.7%, p=0.02). The apoptosis index in ACF foci of patients with carcinoma (1.1%) was significantly lower than in patients without lesions (2.2%) and than in normal mucosa (2%). The mean number of ACF is significantly higher in patients with polyps larger than 1 cm (11.28 vs 6.27, p=0.02). CONCLUSION: Aberrant crypt foci probably precede the appearance of neoplasia and may be helpful in predicting the presence of a colorectal neoplastic lesion.
- Aberrant p15, p16, p53, and DAPK Gene Methylation in Myelomagenesis: Clinical and Prognostic ImplicationsPublication . Geraldes, C; Gonçalves, AC; Cortesão, E; Pereira, MI; Roque, A; Paiva, A; Ribeiro, L; Nascimento-Costa, JM; Sarmento-Ribeiro, ABBACKGROUND: Aberrant DNA methylation is considered a crucial mechanism in the pathogenesis of monoclonal gammopathies. We aimed to investigate the contribution of hypermethylation of 4 tumor suppressor genes to the multistep process of myelomagenesis. METHODS: The methylation status of p15, p16, p53, and DAPK genes was evaluated in bone marrow samples from 94 patients at diagnosis: monoclonal gammopathy of uncertain significance (MGUS) (n = 48), smoldering multiple myeloma (SMM) (n = 8) and symptomatic multiple myeloma (MM) (n = 38), and from 8 healthy controls by methylation-specific polymerase chain reaction analysis. RESULTS: Overall, 63% of patients with MM and 39% of patients with MGUS presented at least 1 hypermethylated gene (P < .05). No aberrant methylation was detected in normal bone marrow. The frequency of methylation for individual genes in patients with MGUS, SMM, and MM was p15, 15%, 50%, 21%; p16, 15%, 13%, 32%; p53, 2%, 12,5%, 5%, and DAPK, 19%, 25%, 39%, respectively (P < .05). No correlation was found between aberrant methylation and immunophenotypic markers, cytogenetic features, progression-free survival, and overall survival in patients with MM. CONCLUSIONS: The current study supports a relevant role for p15, p16, and DAPK hypermethylation in the genesis of the plasma cell neoplasm. DAPK hypermethylation also might be an important step in the progression from MGUS to MM.
- Abordagem Invasiva versus Conservadora nas Síndromes Coronárias Agudas sem Supradesnivelamento do Segmento ST – Contributo para o Conhecimento e Avaliação da Realidade NacionalPublication . Teixeira, R; Lourenço, C; Baptista, R; Jorge, E; António, N; Monteiro, S; Gonçalves, F; Monteiro, P; Freitas, M; Providência, LABACKGROUND: In addition to medical therapy, revascularization plays an important role in determining prognosis in the acute setting of unstable angina (UA) or non-ST elevation myocardial infarction (NSTEMI). OBJECTIVE: To compare in-hospital and medium-term outcome of an invasive versus a conservative strategy in the setting of UA/ NSTEMI. METHODS: We carried out a prospective study of 802 consecutive patients admitted to a single coronary unit between May 2004 and December 2006 with UA/NSTEMI. Patients were divided into two groups: A (n=418)--invasive strategy; B (n=384)--conservative strategy. All-cause mortality and major adverse cardiovascular events (MACE) were assessed at one year. RESULTS: Group B patients were older (73.0 [29-93] vs. 64.0 [27-86] years, p < 0.001), more frequently female and diabetic (35.9 vs. 26.0%, p = 0.002), and were more likely to have a history of myocardial infarction and heart failure. They also presented with worse renal function, lower hemoglobin levels and lower left ventricular ejection fraction (53.0 [45-59] vs. 57.0% [50-60]%, p < 0.001). In hospital mortality was significantly higher for this group (5.7 vs. 1.9%, p = 0.004). Group A had more smokers, more frequent history of percutaneous coronary intervention, higher total and LDL cholesterol, lower Killip class on admission and lower TIMI scores. They were more frequently treated with anti-platelet therapy and at discharge were more often under beta-blocker and dual anti-platelet therapy. Female gender (adjusted OR 0.46; 95% CI 0.27-0.78) and older age (adjusted OR 0.55; 95% CI 0.31-0.99), were independent predictors for a conservative strategy during hospital stay. One-year survival was higher for the invasive strategy patients (95.9% vs. 86.2%, log rank p < 0.001), as was one-year MACE-free survival (88.3% vs. 75.7%, log rank p < 0.001). According to two multivariate Cox regression analyses, opting for an invasive strategy during hospital stay conferred a 57% reduction in relative risk of death (HR 0.43; 95% CI 0.20-0.94), and a 56% reduction in relative risk of MACE (HR 0.44; 95% CI 0.26-0.77) at one year. CONCLUSIONS: Despite some imbalances between the groups, in our population an invasive strategy during hospital stay independently predicted a favorable one-year outcome.
- Abordagem perioperatória do doente diabéticoPublication . Monteiro, S; Rodrigues, F; Pereira de Moura, JM; Moura, JA; Campos, B