Browsing by Author "Silva, A"
Now showing 1 - 9 of 9
Results Per Page
Sort Options
- Association of adult mastocytosis with M541L in the transmembrane domain of KITPublication . Rocha, J; Duarte, ML; Marques, H; Torres, F; Tavares, P; Silva, A; Brito, C
- AVC isquémico em doente jovem - caso clínicoPublication . Louro, C; Ferreira, B; Camacho, T; Silva, A; Lino, J; Soares, Z; Tonel, CA população jovem adulta é afectada numa minoria por acidentes vasculares cerebrais isquémicos (ACVi), mas em cerca de 40% dos casos, estes são criptogénicos. Nestes doentes é raramente possível documentar a existência de uma comunicação inter-auricular (CIA) do tipo ostium secundum. Esta patologia invulgar está associada a um aumento do rico de AVCi por embolia paradoxal. Os autores apresentam o caso de um doente de 32 anos, sem antecedentes relevantes, desportista que recorreu ao serviço de urgência por parestesias do hemicorpo esquerdo e hemiparésia flácida do membro superior esquerdo confirmado no exame neurológico sumário. Realizou tomografia computorizada crânio-encefalica (CE), com evidência de ténue hipodensidade focal na região da coroa radiata direita, podendo corresponder a lesão isquémica recente ou etiologia inflamatório/desmielinizante. Ficou internado para estudo etiológico. Neste contexto realizou ecodoppler carotídeo, Holter, punção lombar com exame citoquímico e bacteriológico do líquido cefalorraquidiano que não revelaram alterações; o rastreio de trombofilias e patologias auto-imunes foi negativo assim como serologias virais. Fez ressonância magnética CE, que mostrou duas lesões isquémicas situadas no córtex do girus pós-central e subcortical central á direita com alterações compatíveis com lesões lacunares na região frontal bilateral. Realizou ecocardiogramas transtorácico e transesofágico que revelaram solução de continuidade compatível com CIA tipo ostium secundum de 14mm, com cavidades direitas dilatadas. Iniciou anticoagulação oral e foi referenciado á consulta de Cardiopatias Congénitas, aguardando cirurgia. Está actualmente clinicamente estabilizado, sob anticoagulação com varfarina.
- Um final feliz: causa rara de hipotonia cervical em lactentePublication . Sampaio, B; Silva, A; Costa, JA; Pereira, A; Silva, H
- Impact of EGFR genetic variants on glioma risk and patient outcomePublication . Costa, BM; Viana-Pereira, M; Fernandes, R; Costa, S; Linhares, P; Vaz, R; Pinheiro, C; Lima, J; Soares, P; Silva, A; Pardal, F; Amorim, J; Nabiço, R; Almeida, R; Alegria, C; Pires, MM; Pinheiro, C; Carvalho, E; Oliveira, P; Lopes, JM; Reis, RMBACKGROUND: The epidermal growth factor receptor (EGFR) regulates important cellular processes and is frequently implicated in human tumors. Three EGFR polymorphisms have been described as having a transcriptional regulatory function: two single-nucleotide polymorphisms in the essential promoter region, -216G/T and -191C/A, and a polymorphic (CA)(n) microsatellite sequence in intron 1. We aimed to elucidate the roles of these EGFR polymorphisms in glioma susceptibility and prognosis. METHODS: We conducted a case-control study with 196 patients with glioma and 168 cancer-free controls. Unconditional multivariate logistic regression models were used to calculate ORs and 95% confidence intervals. A Cox regression model was used to evaluate associations with patient survival. False-positive report probabilities were also assessed. RESULTS: None of the EGFR -216G/T variants was significantly associated with glioma risk. The -191C/A genotype was associated with higher risk for glioma when the (CA)(n) alleles were classified as short for ≤16 or ≤17 repeats. Independently of the (CA)(n) repeat cutoff point used, shorter (CA)(n) repeat variants were significantly associated with increased risk for glioma, particularly glioblastoma and oligodendroglioma. In all tested models with different (CA)(n) cutoff points, only -191C/A genotype was consistently associated with improved survival of patients with glioblastoma. CONCLUSIONS: Our findings implicate EGFR -191C/A and the (CA)(n) repeat polymorphisms as risk factors for gliomas, and suggest -191C/A as a prognostic marker in glioblastoma. IMPACT: Our data support a role of these EGFR polymorphisms in determining glioma susceptibility, with potential relevance for molecularly based stratification of patients with glioblastoma for individualized therapies
- Novel ABCA3 mutations as a cause of respiratory distress in a term newbornPublication . Gonçalves, JP; Pinheiro, L; Costa, M; Silva, A; Gonçalves, A; Pereira, AWe report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
- Pancitopénia e hiperpigmentação cutânea: uma associação inesperadaPublication . Louro, C; Pegado, A; Ferreira, B; Camacho, T; Silva, A; Lino, J; Soares, Z; Tonel, CA anemia carêncial é uma uma patologia pouco prevalente na sociedade actual, acometendo uma população com características muito específicas. O défice de ácido fólico pode cursar com a rara apresentação de hiperpigmentação, por mecanismos que ainda não estão completamente esclarecidos. Os autores descrevem o caso clínico de um doente com 81 anos de idade, sexo masculino, caucasiano, com antecedentes pessoais de anemia recém-diagnosticada, sob terapêutica marcial há cerca de 2 meses. Recorreu ao serviço de urgência por cansaço fácil, anorexia e astenia. Ao exame objectivo de salientar marcada hiperpigmentação cutânea na face, região cervical e mãos. O doente negava exposição solar prolongada, referindo uma dieta pouco diversificada, alimentando-se a base de bolachas e iogurtes nos últimos 4 meses. Negava ingesta diária de leguminosas carnes ou peixe. Dos exames complementares de diagnóstico efectuados há a destacar: hemoglobina 4.7mg/dL; volume globular médio (VGM) 124fL; hemoglobina globular média (HGM) 45.3pg; leucócitos 1900µL; plaquetas 4300 µL, lactato desidrogenase 1851UI/L; híperbilirubinemia indirecta de 1.6mg/dL , ácido fólico < 1ng/mL (3-17); doseamento de vitamina B12 207pg/mL (139-928) e ferro sérico 272mcg/dL (35-150). Realizou tomografia computorizada tóraco-abdominó-pélvica que não revelou alterações. Excluíram-se doenças neoplásicas e infecção pelos vírus da imunodeficiência humana, vírus da hepatite B e C. Iniciou reposição de ácido fólico, tendo-se verificado normalização das alterações analíticas e regressão completa da hiperpigmentação. Teve alta clinica ao 11º dia de internamento, apresentando: hemoglobina 9.6mg/dL; VGM 98.3fL; leucócitos 4600µL; plaquetas 472.000µL e doseamento de ácido fólico 37.5ng/mL.
- Primary spinal glioblastoma: A case report and review of the literaturePublication . Morais, N; Mascarenhas, L; Soares- Fernandes, JP; Silva, A; Magalhães, Z; Moreira da Costa, JAPrimary spinal glioblastoma (GBM) is a rare disease, with an aggressive course and a poor prognosis. We report a case of a 19-year-old male with a 4-week history of progressive weakness in both lower limbs, which progressed to paraparesis with a left predominance and difficulty in initiating urination over a week. Spine magnetic resonance imaging (MRI) showed an intramedullary expansile mass localised between T6 and T11. We performed a laminotomy and laminoplasty between T6 and T11 and the tumour was partially removed. Histopathological study was compatible with GBM. The patient was administered focal spine radiotherapy with chemotherapy with temozolamide. Serial MRI performed after the initial surgery demonstrated enlargement of the enhancing mass from T3 to T12 and subarachnoid metastatic deposits in C2 and C4, the pituitary stalk, interpeduncular cistern, left superior cerebellar peduncle and hydrocephalus. We review the literature with regard to the disease and treatment options, and report the unique features of this case. Primary spinal GBM is an extremely rare entity with a poor prognosis and a short survival time. An aggressive management of the different complications as they arise and improvement of current modes of treatment and new treatment options are required to improve survival and ensure better quality of life.
- TP53 codon 72 polymorphism in susceptibility, overall survival, and adjuvant therapy response of gliomas.Publication . Lima-Ramos, V; Pacheco-Figueiredo, L; Costa, S; Pardal, F; Silva, A; Amorim, J; Lopes, JM; Reis, RMTP53 is a key tumor suppressor gene that encodes a transcriptional factor involved in several cellular mechanisms, including growth arrest, DNA repair, and induction of apoptosis. In addition to TP53 gene mutations, a common polymorphism, Arg72Pro, has been involved in the carcinogenesis process. The Pro72 variant has been associated with a slower induction of apoptosis and may influence the risk of cancer development. The role of Arg72Pro polymorphism in glioma susceptibility is poorly characterized. With the objective of analyzing the role of the TP53 Arg72Pro polymorphism in glioma risk, overall survival, and patient therapy response in a Portuguese population, we conducted a retrospective case-control study, including 171 patients with gliomas and 526 cancer-free individuals. The Arg72Pro genotype was assessed by the polymerase chain reaction-restriction fragment length polymorphism technique. No statistically significant differences were observed in the genotypic and allelic frequencies between glioma and control groups, and no statistically significant differences were observed with stratification of gliomas into distinct histological subtypes: astrocytic (n = 115), glioblastoma (n = 75), and oligodendroglial (n = 54) tumors. No significant association was observed between TP53 Arg72Pro and patient overall survival, but Kaplan-Meier analysis of glioma patients harboring the Pro72 allele showed a significantly longer survival with adjuvant therapy. In this first assessment of the role of TP53 Arg72Pro polymorphism in a large series of Portuguese glioma tumors, no association was observed with glioma susceptibility or overall survival, except for patients submitted to adjuvant therapy.
- Trauma Associado às Touradas à Corda nos Açores: Um Estudo TransversalPublication . Vieira, B; Taranu, V; Vieira, A; Soares, D; Soares, A; Silva, A; Galvão, D; Bagnari, I; Melo, D; Pimentel, F; Sousa, J; Martins, L; Pinheiro, L; Vargas, M; Reis, Ó; Valente, S; Bettencourt, R; Oliveira, T; Mora, AIntroduction: The aim of the study was to describe trauma injuries associated with rope bullfights in the Azores, Portugal, regarding the cause of the incident, trauma mechanism, most affected anatomical areas, and injury severity. Methods: Two-year cross-sectional study in the local hospital with prospective data collection. Patients who were consecutively admitted to the local hospital’s emergency department with trauma injuries from the bull’s direct impact or from falls either during the bull’s escape or when handling the rope, were included. Data on general demographics, lesion characteristics, treatments, need for hospitalization and mortality were collected. Results: Fifty-six incidents and 80 trauma injuries were identified. The main cause of trauma was the bull’s direct impact (37; 66.07%) and the mechanism of injury was blunt trauma in all patients (100%; 56). Head and neck injuries (27; 33.75%) were the most common. The median Injury Severity Score at the emergency department admission was 4. Major trauma was noted in five patients (8.92%). Ten patients (17.85%) needed hospitalization with a median hospital stay of seven days. Three of the 10 hospitalized patients (30%) were previously admitted to the intensive care unit. Surgery was performed in six patients (10.71%). Conclusion: The main cause of trauma was the bull’s direct impact, and the mechanism of injury was blunt trauma. The most affected anatomical areas were the head and neck. These findings are a wake-up call to the impact of these events regarding the economic costs they entail, the costs for the health of the local population, the safety measures currently implemented and the availability of the necessary means to treat these patients.