Browsing by Author "Nascimento-Costa, JM"
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- 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.
- Carcinoma pancreático de células gigantes de tipo osteoclásticoPublication . Pimentel, A; Leitão, S; Dias, N; Cipriano, MA; Leite, J; Santos, R; Nascimento-Costa, JMInitially described 40 years ago (Rosai), the undifferentiated osteoclastic-type giant cell carcinoma (IOGCC) is a variant of ductal adenocarcinoma and accounts for less than 1% of exocrine pancreatic tumors. Its extreme rarity, with consequent existence of few reports and clinical experience, leads to the arousal of doubts with regard to its histogenesis, types of approach and therapeutical attitudes. It is important to note that in Portugal no similar case is registered in medical literature. A 61 year old patient admitted to the Internal Medicine Ward 3 at Coimbra University Hospital presents with a volumous intra-abdominal mass in the left hypochondrium and microcytic anemia. During the investigation, a pancreatic neoplasm was identified, and the patient was submitted to surgical resection, the anatomo-pathological study of the tumor having revealed IOGCC. The particularities of the case, current available therapeutical options and its evolution are discussed, as well as a revision of the existing literature.
- Doença associada ao Clostridium difficile – aumento dramático da incidência em doentes internadosPublication . Correia, L; Monteiro, R; Alfaro, TM; Simão, A; Carvalho, A; Nascimento-Costa, JMMany publications show an incidence increase of Clostridium difficile (CD) associated disease (CDAD), affecting both in- and outpatients being these recent infections more severe and difficult to treat. The aim of this retrospective study is to evaluate the incidence and clinical impact of CDAD in patients hospitalized from the 1st January 2004 to the 31st December 2009. Suggestive clinical manifestations and at least one of the following were the inclusion criteria: CDAD compatible colonoscopy or CD positive toxin. We identified 83 cases of CDAD (32M, 51W), in a total of 9581 patients (5198M, 4383W). Age ranging from 47 to 94 years (average 79). Five patients had CDAD acquired in the community and 78 in hospital environment. The incidence of CDAD increased almost six fold between 2004 and 2009 (4.35/1000 vs. 21.63/1000), and 77.11% developed the disease during hospitalization. The disease was more frequent in women (11.64/1000 vs. 6.16/1000). All patients had undergone prior antibiotherapy. The comorbidities, number of antibiotics used, advanced age, duration of the antibiotherapy and the length of hospitalization did not seem to justify the increase in incidence and severity. In 96% the diagnosis was confirmed by the presence of Clostridium toxin and in 4% by colonoscopy. Seventy three patients (88%) were treated with metronidazole and 30% died (the department overall mortality was 13%). Probably, it was the advanced age related with the worst severity scenario which caused the high mortality in our cases.
- Doença de CastlemanPublication . Leitão, S; Santos, R; Jesus, E; Santos, A; Crespo, J; Martins, Y; Nascimento-Costa, JM; Lopes, D; Simões, A; Julião, MJ; Silva, T; Severo, F; Porto, A
- Evaluation of Apoptotic Molecular Markers in Myelodysplastic Syndrome PatientsPublication . Cortesão, E; Gonçalves, AC; Sousa, I; Moucho, C; Rito, L; Espadana, AI; Magalhães, E; Pereira, AM; Teixeira, A; Nascimento-Costa, JM; Sarmento, AB
- Hipovitaminose D em doentes internados num serviço de medicina internaPublication . Santiago, T; Rebelo, M; Porto, J; Silva, N; Vieira, JD; Nascimento-Costa, JMIntrodução: A hipovitaminose D (hipoD) é uma carência vitamínica cada vez mais frequente nos países desenvolvidos, devido não só a erros alimentares, mas também à pouca exposição solar e ao sedentarismo. Objectivo: Determinar a prevalência de hipoD em doentes internados num Serviço de Medicina Interna e identificar possíveis variáveis associadas. Método: Estudo transversal e observacional onde foram incluídos 123 doentes internados, no período de Abril e Maio. Foram determinados os níveis séricos de vitamina D [25-hidroxivitamina D, 25(OH)D] e subdividida a amostra em três grupos com base nos níveis da 25(OH)D: hipoD grave (<10 ng/mL); hipoD moderada (>10 ng/mL e <20 ng/mL) e um terceiro grupo com níveis adequados de 25(OH) D (>20 ng/mL). Foram registadas variáveis demográficas e factores potencialmente relacionados com a deficiência de vitamina D. Resultados: Nesta amostra de doentes (52,0% mulheres) a média das idades foi 71±17 anos; 67,5% dos indivíduos apresentavam hipoD grave; 25,2% hipoD moderada e 7,3% níveis normais de vitamina D. Os doentes do grupo com hipoD grave eram mais idosos (p=0,027). O mesmo grupo apresentava um maior número de doentes acamados (p=0,022), índices funcionais mais elevados (p=0,009) e maior percentagem de indivíduos com IRC (p=0,011). A análise multivariada com aplicação de modelo de regressão logística revelou que as variáveis associadas a uma probabilidade aumentada de desenvolver hipoD grave foram: consumo de diuréticos (furosemida) [OR=3,673 (1,232-10,956) p=0,020] e a albumina ≤3,25 [OR=5,617 (2,257-13,981) p<0,001]. Conclusão: A elevada prevalência de hipoD grave (67,5%) neste grupo de doentes, alerta para a necessidade da determinação e monitorização das concentrações plasmáticas de 25(OH)D, de modo a iniciar tratamento precoce nos doentes com níveis insuficientes. Os doentes que apresentam consumo de furosemida e a hipoalbuminemia têm uma probabilidade aumentada de desenvolver hipoD grave. O tratamento desta hipovitaminose justifica-se não só pelo conhecimento das consequências clínicas relacionadas com a perda de massa óssea, mas também pela sua associação com a hipoalbuminemia que é um marcador de risco de mau prognóstico em doentes internados.
- Intoxicação por Paraquat – experiência de 18 anos de um Serviço de MedicinaPublication . Simões, M; Alves, P; Esperto, H; Canha, C; Meira, E; Ferreira, E; Gomes, M; Nascimento-Costa, JMIntroduction: Paraquat is a contact herbicide commercially available since 1962. Paraquat intoxication (PI) is usually voluntary and highly lethal, since there is no effective antidote. Toxicity occurs through cyclic redox reactions, damaging mainly the kidneys and lungs. Aim, material and methods: featuring the clinical presentation, management and outcome of patients with PI over an 18 years period (from the 01st January 1993 to the 31st December 2010) through the retrospective analysis of clinical files and comparing the survivors and the deceased. Results: Thirty-one cases of Paraquat intoxication were included, with a male: female ratio 1:1. Age range from 13 to 80 years, mean age 42.4years (±18.7).All intoxications were voluntary and by oral route. There was statistical difference in the amount ingested (22.1 mL vs. 72.7 mL, p<0.0005). A non-significant trend to a longer delay until getting medical attention in the deceased group (1.6 h vs. 3.2 h, p=0.091). Statistical significance was found between mortality and leukocytosis, hypocapnea, hypoxemia, LDH, alkaline phosphatase and AST. There was no difference between groups according to treatment options, although hemocarboperfusion was used more often in the deceased group (53.9% vs. 66.7%, p=0.471) and corticosteroids in the survivor group (61.5% vs. 44.4%, p=0.350). Mortality rate was 58.1% (66.7% in the first 72 hours), due to respiratory insufficiency and multiple organ failure. Variable levels of pulmonary fibrosis occurred in 38.5% of the survivors. Discussion & Conclusion: Paraquat intoxication has a poor prognosis with limited efficiency of treatment approaches. The relation between Paraquat in the urine and the time elapsed after ingestion is the main determinant factor in the prognosis. In this study the presence of dyspnea, hypocapnea and hypoxemia was linked to a bad prognosis. There was no statistical difference between the available treatment options.
- Intoxicação por paraquato: artigo de revisãoPublication . Monteiro, R; Correia, L; Simão, A; Carvalho, A; Nascimento-Costa, JM
- Neoplasia de localização primária desconhecidaPublication . Ferreira, P; Rodrigues, A; Sá, A; Nascimento-Costa, JM; Porto, A
- Neoplasia de localização primária desconhecidaPublication . Ferreira, P; Lebre, R; Rodrigues, A; Sá, A; Nascimento-Costa, JM; Porto, ACancers of unknown primary site constitute a heterogeneous group having in common their biological behaviour. We have analysed patients with cancer of unknown primary site admitted to University Hospital of Coimbra/Internal Medicine Service III from 1st January of 1992 to 30th June of 1998. The study included 26 patients corresponding to a prevalence of 2.5% malignant neoplasias; the median age of affected patients was 64 years old with a male-to-female ratio of 4.2:1. The most frequent histological type was well differentiated and moderately well differentiated adenocarcinoma, 46.1% of all cases. Three years global survival rate was 3.9%. The herein-reported prevalence is comparable to that found in recent literature, showing a good diagnostic skill. As expected, the prognosis was poor, revealing the disease's aggressiveness and the lack of efficient therapy in the majority of case.