Hyperhomocysteinemia, MTHFR C677T genotype and low folate levels: a risk combination for acute coronary disease in a Portuguese population.
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Biomedical subjects
Publications and source records attributed to F Araújo.
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OBJECTIVE: We investigate whether each of the following: HPA-1, Factor V Leiden, prothrombin gene variant and the methylene tetrahydrofolate reductase gene (MTHFR) mutation, are risk factors for acute coronary disease in Portuguese patients. MATERIAL AND METHODS: 100 blood donors and 52 patients with an established diagnosis of myocardial infarction or unstable angina were evaluated for genetic risk factors, by determining HPA-1 genotype, Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation. RESULTS: We found a prevalence of 2.0% for Factor V Leiden, 5.0% for the Prothrombin 20210 variant and 66% for the MTHFR mutation in blood donors. These values are similar to those found in the patients (1.9, 3.8 and 58%, respectively). We found that 28/100 controls had the PI(A2) polymorphism, a frequency statistically different from that in the patients (23/52). This difference was even more pronounced in patients less than 60 years old (27/96 vs. 13/24). CONCLUSION: Factor V Leiden, Prothrombin 20210 variant and MTHFR mutation do not seem to represent risk factors for acute coronary disease. However, the PI(A2) polymorphism could have a role in the pathogenesis of this disease. The presence of multiple genetic factors, more than single ones, could influence the development and outcome of myocardial infarction and unstable angina. Larger studies are needed in order to have a better insight into the pathophysiological mechanisms of this disease, along with its prevention and the development of new treatments.
HGV can be transmitted by transfusion and is capable of inducing persistent infection. Thus far it appears to have no discernable disease association. We determined the infection rate of HGV in volunteer blood donors and patient with risk factors for viral transmission through the blood. The association between HGV infection and exposure to labile blood products could be a problem for blood banks in the future.
Sediment, suspended matter, river water and ground water samples were collected at twelve sites in the drainage valley of the Nile River, around Sohag (Central Egypt) and close to the Aswan High Dam. Elemental composition of the river water (27 elements), ground water (eight elements), suspended matter (12 elements) and sediments (12 elements) was studied. Aswan High Dam construction, agricultural and industrial human activities have led to dramatic changes in the Nile River chemistry. Nowadays, the Nile River has the highest dissolved salt content among the major African rivers. Dissolved transport is a major process for Ca, K, Sr, Zn, Cu, Ni and V. Manganese, Fe and Cr are mainly carried by suspended matter. The Nile suspended matter is exhausted in almost all elements studied (except for Mn) compared to the world average river suspended matter. Along the course of the river, the distribution of elements in the suspended matter and sediments is generally controlled by natural processes: the relative importance of elemental transport phases; and the oxidation, precipitation and sedimentation of mineral species through the varying physico-chemical conditions of the environment. Pollution input in the Nile particulate load is not major, as compared to the natural inputs. Eight genetic particle types describe the composition of the Nile suspended matter and sediments: (1) biogenous-aeolian (or silica); (2) terrigenous (Fe-aluminosilicate); (3) authigenic (calcium carbonate); (4) biogenous (apatite); (5) authigenous-terrigenous (Fe-oxyhydroxide-montmorillonite); (6) diagenetic (iron-sulfide); (7) terrigenous (titanium oxide); (8) authigenous (Mn-Fe-oxyhydroxide).
We report a severe fatal lepromatous leprosy case in an adult homosexual male 2 years after AIDS class IV was diagnosed. Multidrug therapy including thalidomide for erythema nodosum leprosum (ENL) was ineffective. The patient died with multiple large skin ulcerations due to multibacillary leprosy. Leprosy in AIDS patients may present as a severe uncontrolled disease, with extensive ENL unresponsive to therapy.
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In 1975, during blood screening for hepatitis B, Cossart et al. discovered the human parvovirus B19 (B19). It is a small, single strand DNA virus of the Parvoviridae family. This virus is widespread with 40-80% of adults showing evidence of infection. It is found in the respiratory secretions of viraemic patients and direct contact has been suggested as the most likely mode of transmission. Parenteral transmission is common during treatment with clotting-factor concentrates, but rarely occurs during transfusion with single donor products. Although B19 usually causes a self-limited illness, complications of infection can be severe and at times life threatening. In pregnant women, infection can lead to spontaneous abortions and hydrops fetalis and, in patients with haemolytic anaemias or in immunocompromised individuals, can induce aplastic crisis and chronic anaemias. The diagnosis can be made by indirect (testing for B19 antibodies) or direct methods (detecting B19 viremia). There are no vaccines or specific therapy currently available. Contact isolation is recommended for hospitalized patients.