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- Actividade epileptiforme interictal e ritmos biológicosPublication . Martins-Silva, António
- Nefropatia de refluxo na criançaPublication . Jardim, Helena
- HFE mutations in patients with hereditary haemochromatosis in SwedenPublication . Cardoso, E.; Stal, P.; Hagen, K.; Cabeda, J.; Esin, S.; Sousa, M.; Hultcrantz, R.OBJECTIVE: To determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden. DESIGN: Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. SETTINGS: Patients with HH treated with phlebotomies at Karolinska Hospital and Huddinge Hospital were analyzed. SUBJECTS: Eighty-seven unrelated patients with HH and 117 healthy controls. RESULTS: It was found that the HFE C282Y mutation occurs in 94.2% of chromosomes from patients with HH. Eighty patients (92.0%) were homozygous for the C282Y mutation and one was heterozygous. Three patients were heterozygous for both C282Y and H63D mutations. One patient was homozygous and one was heterozygous for the H63D mutation. One patient carried normal alleles. In healthy controls, the C282Y mutation occurred in nine subjects (7.7%), all of which were heterozygous. The H63D mutation was found in 28 control subjects, one of which was homozygous. CONCLUSIONS: We found that the majority of patients with HH have the C282Y mutation in the HFE gene. The frequency of the H63D mutation was higher in controls than in patients with HH, although in chromosomes at risk the frequency of the H63D mutation was higher in patients.
- Hiperhomocisteinemia no transplante renal – prevalência, distribuição e determinantesPublication . Fonseca, IsabelIntrodução: A doença cardiovascular é uma complicação major do transplante renal (TR). A hiperhomocisteinemia (HHC) é considerada actualmente, como um factor de risco independente da aterosclerose. Apenas um número limitado de estudos analisou este "novo" factor de risco na população com TR. Do nosso conhecimento, nenhum deles português. Objectivos: A realização deste estudo pretendeu: a) determinar a prevalência de HHC basal; b) analisar a distribuição dos valores plasmáticos de homocisteína basal total (HC) e de vitaminas B6, B12 e ácido fólico; c) identificar, por análise univariada e multivariável, os determinantes da concentração de HC e os factores preditores da HHC numa amostra de transplantados renais. Participantes e Métodos: Foi efectuado o doseamento analítico da HC e vitaminas B6, B12 e ácido fólico (sérico e eritrocitário) em 202 indivíduos com TR (89 Mulheres; 113 Homens), com tempo de TR superior a 6 meses. Foram também determinadas outras variáveis analíticas potencialmente relevantes e recolhidos factores demográficos e associados ao pré e ao pós TR, nomeadamente a função renal, terapêutica actual e outros factores de risco para a aterosclerose. Considerou-se a presença de HHC quando os valores excederam os 15 nmol/L Resultados: A percentagem de HHC foi de 48.7%, atingindo maioritariamente o sexo masculino, que apresentou valores de HC 22% mais elevados que o sexo feminino. A HC correlacionou-se inversa e significativamente com a concentração de vitaminas B12 (r=-0.27, p<0.001) e ácido fólico sérico (r=-0.36, p<0.001) e eritrocitário (r=-0.25, p<0.01). A correlação entre a HC e a creatinina, ureia e ácido úrico séricos foi positiva e significativa (r=0.55, p<0.001 ; r=0.49; p<0.001 e r=0.51, p<0.001, respectivamente). Os valores de HC aumentaram significativamente com o tempo de TR (r=0.21, p=0.003) e com o número de dias de internamento após o TR (r=0.25, p<0.001). Não foi obtida correlação entre a idade e a HC. Por análise de regressão linear múltipla, o ácido úrico e creatinina séricos, antecedentes de doença vascular, sexo, terapêutica com antiadrenérgicos de acção central e ácido fólico eritrocitário foram os determinantes independentes e significativos (p<0.05) da concentração de HC, permitindo explicar 46.7% da sua variação. Nenhum dos factores de risco para a aterosclerose considerados se associou significativamente com a presença de hiperhomocisteinemia, quer por análise univariada quer multivariável. Após ajuste, por regressão logística, a vitamina B12, ácido fólico eritrocitário, creatinina sérica e número de anti-hipertensores foram os factores preditores significativos da ocorrência de HHC. Conclusão: A HHC ocorreu em quase metade da nossa amostra, atingindo maioritariamente o sexo masculino. A concentração da HC tende a aumentar com a deterioração da função renal e com a diminuição dos valores de vitamina B12 e ácido fólico, apesar da ausência de défices significativos das vitaminas doseadas. Ao contrário da população geral, não foi obtida uma correlação entre a idade e a HC. A ocorrência de HHC foi independente de qualquer outro factor de risco para a aterosclerose. O ácido fólico foi um determinante significativo na concentração HC e um preditor importante da ocorrência de HHC, juntamente com a vitamina B12, o que permite sugerir a possibilidade de intervenção neste factor de risco.
- Contribuição para o estudo da sensibilidade à insulina na obesidade e no síndrome metabólicoPublication . Cardoso, Maria Helena
- Cooling therapy for acute strokePublication . Correia, M.; Silva, M.; Veloso, M.Abstract BACKGROUND: Recent studies in acute stroke patients have shown an association between body temperature and prognosis. OBJECTIVES: Our objective was to assess the effects of cooling when applied to patients with acute ischaemic stroke or primary intracerebral haemorrhage. SEARCH STRATEGY: We searched the Cochrane Stroke Group's trial register (last searched in March 1999), plus MEDLINE searched up to November 1998 and EMBASE searched from January 1980 to November 1998. We contacted investigators, pharmaceutical companies and manufacturers of cooling equipment in this field. SELECTION CRITERIA: All completed randomised controlled trials or controlled clinical trials, published or unpublished, where cooling therapy (therapy given by physical devices or antipyretic drugs primarily to lower body temperature independently of basal temperature at the beginning of treatment) was applied up to two weeks of an acute ischaemic stroke or primary intracerebral haemorrhage. DATA COLLECTION AND ANALYSIS: Two reviewers independently searched for relevant trials. MAIN RESULTS: No randomised trials or controlled trials were identified; one placebo-controlled trial of metamizol is currently underway. REVIEWER'S CONCLUSIONS: There is currently no evidence from randomised trials to support the routine use of physical or chemical cooling therapy in acute stroke. Since experimental studies showed a neuroprotective effect of hypothermia in cerebral ischaemia, and hypothermia appears to improve the outcome in patients with severe closed head injury, trials with cooling therapy in acute stroke are warranted.
- The family physician and the human immunodeficiency virus seropositive patientPublication . MARCOS, T.; BARBOSA, A.; ALMEIDA, I.; BARBOSA, P.; VASCONCELOS, C.Acta Med Port. 2000 Jul-Aug;13(4):173-9. [The family physician and the human immunodeficiency virus seropositive patient]. [Article in Portuguese] Marcos T, Barbosa A, Almeida I, Barbosa P, Vasconcelos C. SourceCentro de Saúde da Batalha, Porto. Abstract OBJECTIVES: To characterize a subject who is HIV positive and closely observed in the consultation of clinical immunology (Santo António General Hospital), from a demographic and socio-economic point of view; to determine the percentage of these subjects who have a family doctor; how often they go to a family doctor; the reasons for a more frequent visit to the doctor; if there has been any alteration in the reasons for consulting the family doctor after establishing the diagnosis of HIV infection; who made the diagnosis of HIV infection; to evaluate, from these patient's point of view, if there has been any alteration in the family doctor's attitude or vice versa after the diagnosis. CHARACTERISATION OF THE STUDY: A descriptive, transversal study was carried out from 30/01/97 to 13/03/1997. METHOD: A questionnaire with twenty-two questions was used in a personal interview of a random sample of 100 patients observed in the Consultation of Clinical Immunology at Santo António General Hospital and represented 40% of the population studied. RESULTS: One hundred patients answered the questionnaire, 73 were male and 27 female, with an mean age of 34.73 years. The majority were single, representing 44% of the random sample, 33% had completed primary education (or equivalent), and 28% had attended secondary school (complete or incomplete), 35% of the subjects were employed and 34% unemployed. In what concerns area of residence, the majority live in the metropolitan area of Oporto. The majority of the patients (85%) had a family doctor. Nevertheless, 1/3 had never paid a visit to their doctor and, as for the others, the majority rarely did. After the diagnosis of HIV infection, the reasons that led patients to see their doctors were merely administrative (prescriptions--24.56%, sick leave--21.05%). On the other hand, before the diagnosis, health problems were their major concern and priority (27.54%). The diagnosis was made in equal proportion (28%) by the hospital services and by institutions providing health care for drug addicts. In most cases, from the patient's point of view, there had not been any change in the family doctor's attitude after the diagnosis of HIV infection and vice versa. COMMENTS: Although the majority of the subjects have a family doctor, their demand is very low, therefore, there is a waste of opportunities in terms of primary, secondary and tertiary medical care.
- Malignant carotid body tumor: a case reportPublication . Dias da Silva, A.; O`Donnel, S.; Gillespie, D.; Goff, J.; Shriver, C.; Rich, N.Abstract Carotid body tumors (CBTs) have an unpredictable history with no correlation between histology and clinical behavior. Of reported cases since 1891, local and distant metastases appear in approximately 10% of cases and remain the hallmark of malignancy. Currently, there are not enough data to support a single treatment regimen for malignant CBTs. The reported case demonstrates some unanswered issues with regard to malignant CBTs to include lymph node dissection, the need for carotid resection, and the role of radiation therapy. A 46-year-old pathologist underwent a resection of a Shamblin I CBT, to include jugular lymph node sampling, without complication. There was lymph node involvement, and tumor cells were found on the margins of the pathologic specimen. Subsequent carotid resection with reversed interposition saphenous vein graft and modified neck dissection were performed again without complication. Follow-up at 4 years has been uneventful. Diagnosis of CBTs with the use of magnetic resonance angiography, magnetic resonance imaging, color flow duplex scanning, and the role of arteriography are reviewed. The current treatment options are discussed with reference to primary lymph node sampling, carotid resection, and neck dissection in malignant cases. This case demonstrates that the unpredictable nature of CBTs and their malignant potential warrant aggressive initial local treatment to include jugular lymph node sampling and complete tumor resection.