Browsing by Author "Mafra, M"
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- A 63-Year-Old Woman Presenting with a Synovial Sarcoma of the Hand: a Case ReportPublication . Casal, D; Ribeiro, AI; Mafra, M; Azeda, C; Mavioso, C; Mendes, MM; Mouzinho, MMINTRODUCTION: Synovial sarcoma is a high-grade, soft-tissue sarcoma that most frequently is located in the vicinity of joints, tendons or bursae, although it can also be found in extra-articular locations. Most patients with synovial sarcoma of the hand are young and have a poor prognosis, as these tumors are locally aggressive and are associated with a relatively high metastasis rate. According to the literature, local recurrence and/or metastatic disease is found in nearly 80% of patients. Current therapy comprises surgery, systemic and limb perfusion chemotherapy, and radiotherapy. However, the 5-year survival rate is estimated to be only around 27% to 55%. Moreover, most authors agree that synovial sarcoma is one of the most commonly misdiagnosed malignancies of soft tissues because of their slow growing pattern, benign radiographic appearance, ability to change size, and the fact that they may elicit pain similar to that caused by common trauma. CASE PRESENTATION: We describe an unusual case of a large synovial sarcoma of the hand in a 63-year-old Caucasian woman followed for 12 years by a multidisciplinary team. In addition, a literature review of the most pertinent aspects of the epidemiology, diagnosis, treatment and prognosis of these patients is presented. CONCLUSION: Awareness of this rare tumor by anyone dealing with hand pathology can hasten diagnosis, and this, in turn, can potentially increase survival. Therefore, a high index of suspicion for this disease should be kept in mind, particularly when evaluating young people, as they are the most commonly affected group.
- Aggressive Pituitary Lesion with a Remarkably High Ki-67Publication . Marques, P; Mafra, M; Calado, C; Martins, A; Monteiro, J; Leite, VOs raros tumores pituitários agressivos são chamados carcinomas quando são detectadas metástases, sejam sistêmicas e/ou em sistema nervoso central. Alguns casos estão associados com superprodução de hormônio, mas a maioria é diagnosticada em função dos sintomas locais. Essas neoplasias são geralmente refratárias aos tratamentos atuais. Uma mulher com 51 anos de idade apresentou dor de cabeça de início súbito, paralisia de braço esquerdo e hipoestesia facial esquerda. A tomografia e a ressonância magnética revelaram um tumor pituitário invadindo os seios esfenoidal e cavernoso esquerdos. Os dados laboratoriais excluíram hipersecreção hormonal. A paciente foi submetida à cirurgia transesfenoidal, e os achados histológicos mostraram uma neoplasia com Ki-67 estimado em 75%. As imagens excluíram tanto um tumor oculto primário quanto disseminação sistêmica ou do sistema nervoso central. Três semanas após a cirurgia, a condição neurológica apresentou piora com início de ataxia, ptose bilateral, oftalmoplegia e aumento do tamanho da lesão, levando à intervenção cirúrgica por craniotomia, seguida por apenas algumas sessões de radioterapia devido à progressão grave da doença. A paciente veio a óbito depois de quase dois meses das manifestações iniciais. O caso ilustra a agressividade de algumas lesões pituitárias, a eficácia limitada das modalidades atuais de tratamento, como a cirurgia ou a radioterapia, e as limitações da classificação atual de tumores pituitários. Até onde sabemos, esse caso corresponde a uma das neoplasias pituitárias mais agressivas descritas até hoje, com um nível muito alto de Ki-67 (75%) e sobrevida curta (2 meses). O nível de Ki-67 pode ser de valor prognóstico em tumores pituitários. A classificação da Organização Mundial da Saúde (OMS) para tumores pituitários deveria ser revisitada.
- Brachial Plexus Morphology and Vascular Supply in the Wistar RatPublication . Almeida, MA; Casal, D; Mafra, M; Mascarenhas-Lemos, L; Martins-Ferreira, J; Ferraz-Oliveira, M; Amarante, J; Goyri-O'Neill, JIntroduction: The rat is probably the animal species most widely used in experimental studies on nerve repair. The aim of this work was to contribute to a better understanding of the morphology and blood supply of the rat brachial plexus. Material and Methods: Thirty adult rats were studied regarding brachial plexus morphology and blood supply. Intravascular injection and dissection under an operating microscope, as well as light microscopy and scanning electron microscopy techniques were used to define the microanatomy of the rat brachial plexus and its vessels. Results: The rat brachial plexus was slightly different from the human brachial plexus. The arterial and venous supply to the brachial plexus plexus was derived directly or indirectly from neighboring vessels. These vessels formed dense and interconnected plexuses in the epineurium, perineurium, and endoneurium. Several brachial plexus components were accompanied for a relatively long portion of their length by large and constant blood vessels that supplied their epineural plexus, making it possible to raise these nerves as flaps. Discussion: The blood supply to the rat brachial plexus is not very different from that reported in humans, making the rat a useful animal model for the experimental study of peripheral nerve pathophysiology and treatment. Conclusion: Our results support the homology between the rat and the human brachial plexus in terms of morphology and blood supply. This work suggests that several components of the rat brachial plexus can be used as nerve flaps, including predominantly motor, sensory or mixed nerve fibers. This information may facilitate new experimental procedures in this animal model.
- BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric GliomasPublication . Frazão, L; Martins, MC; Nunes, VM; Pimentel, J; Faria, C; Miguéns, J; Sagarribay, A; Matos, M; Salgado, D; Nunes, S; Mafra, M; Roque, LGenetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.
- IgG4-Related Hashimoto's Thyroiditis - A New Variant of a Well Known DiseasePublication . Vara Luiz, H; Gonçalves, D; Nunes da Silva, T; Nascimento, I; Ribeiro, A; Mafra, M; Manita, I; Portugal, J; ThyroidectomyHashimoto's thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid inflammation rich in IgG4-positive plasma cells and marked fibrosis. It may be part of the systemic IgG4-related disease. We report a case of a 56-year-old Portuguese man who presented with a one-month history of progressive neck swelling and dysphagia. Laboratory testing revealed increased inflammatory parameters, subclinical hypothyroidism and very high levels of thyroid autoantibodies. Cervical ultrasound (US) demonstrated an enlarged and heterogeneous thyroid gland and two hypoechoic nodules. US-guided fine needle aspiration cytology was consistent with lymphocytic thyroiditis. The patient was submitted to total thyroidectomy and microscopic examination identified typical findings of HT, marked fibrosis limited within the thyroid capsule and lymphoplasmacytic infiltration, with >50 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of >40%. After surgery, serum IgG4 concentration was high-normal. Symptoms relief and reduction in laboratory inflammatory parameters were noticed. Thyroid function is controlled with levothyroxine. To our knowledge we report the first case of IgG4-related HT in a non-Asian patient. We also perform a review of the literature regarding IgG4-related disease and IgG4-related HT. Our case highlights this new variant of the well known HT, and helps physicians in recognizing its main clinical features, allowing for proper diagnosis and treatment.
- Lesão Incomum da Base do Crânio: Hemangiopericitoma da Fossa Craniana MédiaPublication . Bilreiro, C; Coiteiro, D; Mafra, M; Borges, AMeningioma is the most common intracranial tumor affecting the skull base and the diagnosis is usually straightforward on imaging studies. However, other lesions may present similar findings. A 60 year-old-man presented with memory loss and behavioral changes. Computed Tomography (CT) and Magnetic Resonance (MR) imaging disclosed an extra-axial, dural-based lesion of the middle cranial fossa. The lesion was strongly enhanced and of hypervascular nature, peripheral vessels and vasogenic edema of the adjacent brain parenchyma. Although the most common dural-based lesion of the central nervous system (CNS) is the meningioma, radiologists should be aware of other differential diagnoses, particularly when facing atypical imaging features. These comprise metastases, lymphoma and leukemia, histiocytic lesions, sarcoidosis and hemangiopericytoma. Based on imaging findings we were able to suggest the hemangiopericytoma diagnosis and the patient was subject to tumoral resection surgery and adjuvant radiotherapy. A small tumoral residue remains stable on follow-up studies.
- Linfoma Primitivo do Sistema Nervoso Central em Doente com SidaPublication . Bau, J; Teotónio, R; Pacheco, MH; Mafra, M; Coutinho, FO aumento da incidência do linfoma cerebral primitivo parece ser real em pessoas imunologicamente normais. Contudo, os linfomas do sistema nervoso central têm uma muito maior incidência em doentes imunodeprimidos tais como os submetidos a transplantes cardíacos ou renais, doentes com deficiência de IgA ou síndrome de Wiskott-Aldrich. Assim, não é surpreendente o aumento da predisposição dos doentes com a síndrome de imunodeficiência adquirida para os linfomas do sistema nervoso central, sendo esta a segunda causa mais frequente de lesão ocupando espaço intracerebral nesta população. Os autores descrevem o caso de uma mulher de 36 anos com síndrome de imunodeficiência adquirida e uma lesão ocupando espaço intracerebral que demonstraram tratar-se de um linfoma cerebral.
- Nasal Lobular Capillary Hemangioma as a Complication after an Endoscopic Transsphenoidal Gonadotrophin-Producing Pituitary Adenoma ResectionPublication . Forte, Da; Irañeta, A; Nabais, A; Figueiredo, A; Mafra, M; Gonçalves, VBackground Lobular capillary hemangioma is a rare benign tumor, most frequently located in the head or neck region, the nasal cavity being uncommonly affected. Its etiopathogenesis is not fully established, although traumatic and hormonal factors have been implied. Case Description A 50-year-old female patient underwent an uneventful endoscopic transsphenoidal removal of a pituitary cystic macroadenoma at our institution. Nasal packing was used in postoperative hemostasis. Histopathology was compatible with a gonadotrophin-producing adenoma. One month after the surgery, the patient presented with frequent episodes of epistaxis and a progressively growing nasal mass, which was removed endoscopically. Its pathological examination confirmed a lobular capillary hemangioma. Conclusions The authors present a clinical case combining two possible predisposing factors to the development of a nasal lobular capillary hemangioma: local traumatic injury through surgery and postoperative nasal packing and hormonal influence. This lesion is a rare complication of endoscopic transsphenoidal resections of pituitary adenomas.
- Right Cardiac Intracavitary Metastases from a Primary Intracranial MyxofibrosarcomaPublication . Alpuim Costa, D; Barata, P; Gouveia, E; Mafra, MPrimary intracranial myxofibrosarcoma is exceedingly rare, with less than 10 cases published. We present a case of a 23-year-old man with previous history of a primary low grade myxofibrosarcoma of the left parietal-occipital convexity resected in March 1999. He subsequently underwent several interventions for multiple local recurrent disease until March 2004. At that time, complete remission was documented. About 8 years later, in February 2012, the patient was admitted to the emergency room with refractory acute pulmonary oedema. On work up, sustained monomorphic ventricular tachycardia and hyperechoic myocardial mass with invasion of the right ventricular cavity were detected. Electrical cardioversion was unsuccessful and irreversible cardiac arrest followed. The autopsy confirmed multiple bilateral lung metastases, malignant pulmonary embolism and myocardial invasion by the primary tumour, with intracavitary cardiac thrombosis and absence of intracranial disease. To the best of our knowledge, this is the first report of extracranial metastases of this neoplasm.
- Simultaneous Supratentorial and Infratentorial Pilocytic Astrocytomas in an Adult Patient with Concurrent Neurofibromatosis Type 1 and HIV InfectionPublication . Forte, D; Nabais, A; Pontinha, C; Mafra, M; Mateus, LBACKGROUND: Neurofibromatosis type 1 (NF1) has been identified as a predisposing factor in the development of pilocytic astrocytoma (PA), a common benign central nervous system tumor. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in nonoptic and hypothalamic locations. CASE DESCRIPTION: A 41-year-old female patient with NF1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presented with a first generalized seizure and associated headache and ataxia. Imaging studies revealed 2 large intra-axial PAs, nodular-cystic in the supratentorial compartment and solid in the infratentorial compartment. Both lesions were treated by gross total resection in 2 surgeries performed 1 week apart. Despite their different imaging patterns, the tumors were histologically and genetically identical. CONCLUSIONS: We present a unique case involving 2 histologically and genetically identical PAs occurring simultaneously in supratentorial and infratentorial locations. We suggest that an intrinsic predisposition to tumor development in patients with NF1 might have been enhanced by the HIV-related immunosuppression in this case. Strict oncologic surveillance is essential in patients with a tumor predisposition syndrome combined with immunosuppression.