859 resultados para Early case detection
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility
Resumo:
Pós-graduação em Biotecnologia - IQ
Resumo:
Dentoalveolar ankylosis is described as the direct union between root cementum/dentin and alveolar bone. Its etiology is unknown, and conflicting opinions have been presented to explain it. Late detection of ankylosed primary teeth may cause serious problems to the occlusion and generally demands a more complex treatment approach. The purpose of this report is to present an unusual case of severe infraocclusion of the primary maxillary right second molar associated with a posterior crossbite in a 6-year-old child. The initial treatment option was tooth extraction, but the tooth resumed eruption spontaneously. After correction of the posterior crossbite and a 1-year follow-up, the tooth remained in occlusion and the permanent successor was developing without problems. From this unusual outcome, it may be concluded that further investigation of this anomaly of eruption is needed. (J Dent Child 2013;80(2):88-91)
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Nevoid basal cell carcinoma (NBCCS) or Gorlin-Goltz syndrome (GS) is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT) that was enucleated. On presentation, the patient’s symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin.
Resumo:
Dislocated subcondylar fractures often require open reduction and internal fixation. This treatment modality results in better anatomy, early function, and facilitated physical therapy. Ideal stable fixation is obtained by use of two miniplates to control the tension zone in the sigmoid notch area and stabilize the posterior border region or, if there is not enough space, one stronger plate. That is most frequently achieved through extraoral approaches. Recently new instruments have facilitated the use of an intraoral approach, which is used usually with the aid of an endoscope. However, it is possible to perform the procedure without the endoscope if proper instruments and clinical mirrors for checking the posterior border reduction and fixation are used. A case of reduction and fixation of a medially dislocated condylar fracture is presented and discussed.
Resumo:
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Resumo:
An ability to detect and quantify protein molecules, harbingers of specific pathologies, potentially underpins both early disease diagnosis and an assessment of treatment efficacy. However, the specific detection of a particular protein biomarker in a complex environment is by no means an easy task and requires a progressive improvement in sensor technology. The high surface area, volume, electrical conductance, atomic level thickness and apparent biocompatibility of graphene makes it potentially an exceedingly powerful transducer of biorecognition events; the demands of its application in biosensing, and progress to date are reviewed herein.
Resumo:
Accurate paleoenvironmental reconstruction relies on the correct interpretation of the postmortem history of skeletal remains in shelly assemblages. In contrast to marine settings, actualistic taphonomic studies are lacking for shell-rich concentrations in freshwater riverine systems. In particular, the taphonomic pathways and the origins of taphonomic signatures that are recorded in bioclasts from fluvial settings are poorly known. In this study, we addressed this issue by comparing the taphonomic signatures and shell-damage profiles among shells of freshwater mollusks recorded both in death and in fossil assemblages from the same fluvial environment. Our data indicated that dissolution was the most pervasive taphonomic process leading to the destruction of the shells. The loss of taphonomic information extended beyond shell dissolution in the riverbed, or the early diagenesis in the sedimentary record. The loss of biological information from the living community through the death assemblage, until the incorporation of shells as fossils, mainly occurred during the time the shells were in the sediment-water interface. Though this destruction affected primarily dead shells, reworked fossils also became vulnerable because they were carried out into the river load again by channel avulsion. A model that included the main taphonomic pathways followed by the molluscan shells in the fluvial Touro Passo Formation (Pleistocene-Holocene) is discussed. In this model, two main destructive domains were recognized, which were the biological, physical, and chemical processes operating at the taphonomically active zone (= TAZ domain) and the pedogenetic domain.
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
OBJECTIVE: To alert pediatricians about the possibillity of childhood Idiopathic Pulmonary Hemosiderosis, in cases of anemia associated with chronic lung disease. METHODS: This article documents a case of Idiopathic Pulmonary Hemosiderosis in a 6 year-old child, with histopathological documentation, and reviews it against published literature. RESULTS: A 6 year-old child with history of anemia and lung disease characterized by wheezing, recurrent pneumonia and digital clubbing was admitted to the hospital for investigation, where he suffered sudden respiratory failure and hemoptysis.He was submitted to a lung biopsy which showed a histopathological diagnosis compatible with pulmonary hemosiderosis. Therapy with high doses of corticosteroids was initiated with a good early response. After two and a half months of therapy he had a new bleeding episode, culminating in death. CONCLUSIONS: Idiopathic Pulmonary Hemosiderosis should be included as a possible diagnosis of children with anemia and chronic lung disease. This case is a good example.
Resumo:
The correction of functional posterior crossbite through Planas Direct Tracks has many characteristics that can become advantages. The aim of this study was to present a clinical case showing how to use this procedure for early correction with resources available through public health services. The patient, a 4-year-old girl, arrived to receive treatment due to a functional unilateral crossbite. When the mandible was moved to the centric position, it was observed that the teeth had occlusal trauma. An occlusal adjustment was performed. The adjustment was not sufficient to promote functional equilibrium; thus, Planas Direct Tracks were made, resulting in functional equilibrium and correction of the malocclusion. As shown in the case report, the Planas Direct Tracks were effective for the correction of the posterior crossbite. If malocclusion is considered a public health problem, implementation of low-cost and easy-to-execute techniques is needed.