CONTEXTO: A gravidez e o puerpério aumentam os risco de eventos tromboembólicos, e estes riscos são maiores em mulheres portadoras de trombofilias. As mutações (FII) G20210A do gene da protrombina e a heterozigose da mutação do fator V de Leiden conferem risco moderado de trombose. A associação desses dois fatores é muito rara e o real risco de trombose é desconhecido. RELATO DE CASO: Descrevemos o caso de uma gestante portadora de ambos os fatores. Cinco anos antes da gestação, apresentou um episódio de trombose venosa associada ao uso de contraceptivos orais, e na sexta semana de gestação apresentou novo episódio. Foi tratada desde então com heparina de baixo peso molecular (nadroparina) até o parto. A gestação evoluiu sem nenhuma morbidade obstétrica significativa, e a paciente deu à luz um recém-nascido no termo, de parto cesariana. No puerpério, foi mantida nadroparina por seis semanas, e não ocorreram complicações. Mulheres portadoras de trombofilias e com antecedente de trombose devem ser mantidas em anticoagulação por toda a gestação e puerpério com heparina não-fracionada ou de baixo peso molecular. Recomenda-se a anticoagulação durante a gravidez pois não se conhece a magnitude real do risco de eventos tromboembólicos potencialmente fatais.

CONTEXT: Pregnancy and puerperium raise the risk of thromboembolic events, and these risks are increased in women who are carriers of thrombophilia factors. Prothrombin (FII) G20210A and factor V Leiden heterozygous mutations are associated with moderate risk of thrombosis. The association of these thrombophilic conditions is very rare in pregnancy, and the real risk of thrombosis is unknown. CASE REPORT: We describe a case of a pregnant woman who was found to be carrier of heterozygous factor V Leiden and prothrombin (FII) G20210A mutations. Five years before pregnancy she had had an episode of extensive deep venous thrombosis in the ileofemoral region, while using hormonal contraceptives. Anticardiolipin antibody (ACA), lupus anticoagulant and deficiencies of protein C, protein S and antithrombin III were evaluated by means of enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. Deoxyribonucleic acid (DNA) was amplified using the polymerase chain reaction (PCR) to study the factor V Leiden and G20210A mutations in the prothrombin gene and C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene. In the sixth week of her first pregnancy, she developed another episode of deep venous thrombosis in the femoropopliteal veins of the right leg. She was treated with low-molecular weight heparin (nadroparin) until parturition (0.3 ml or 2,850 UI/day). The pregnancy evolved without any significant obstetric morbidity. The patient delivered a healthy baby by cesarean section. During the puerperium, she used prophylactic doses of nadroparin for (0.3 ml or 2,850 UI/day) six weeks and had no complications. We suggest that women who have an association of thrombophilia factors and a prior episode of venous thromboembolism must have antepartum anticoagulation management using unfractioned or low-molecular weight heparin and postpartum management using low-molecular weight heparin or oral anticoagulants. Anticoagulation is recommended during pregnancy because the real magnitude of the risk of major and life-threatening thromboembolic events in these women is unknown.

A systematic study of Na+, K+, Ca2+, Mg2+, Cl-, NO3-, SO4(2-) and PO4(3-) interference on the simultaneous atomization of As, Cd, Pb and Se was carried out using an electrothermal atomic absorption spectrometer. The mixture 250 mg W + 250 mg Rh was thermally deposited on the graphite tube platform and used as permanent chemical modifier. The compromised heating program adjustments (Tp = 650ºC and Ta = 2200ºC) diminished the thermal decomposition and volatilization efficiency of the interfering species during the pyrolysis step. The Cl- and SO4(2-) anions caused the most severe interference, while NO3- only affected the analytes' atomization when high amounts (> 27 mg) were used. The anion PO4(3-) produced a strong negative interference on the Se absorbance signals. The presence of Na+, K+, Ca2+ and Mg2+ prejudiced mainly Cd, and the interference effects of Cl- salts were more pronounced than NO3- salts.

Um estudo sistemático para verificar as interferências provocadas por Na+, K+, Ca2+, Mg2+, Cl-, NO3-, SO4(2-) e PO4(3-) nos processos de atomização simultânea de As, Cd, Pb e Se foi realizado utilizando um espectrômetro de absorção atômica com atomização eletrotérmica. A mistura de 250 mg W + 250 mg Rh foi termicamente depositada sobre a plataforma do tubo de grafite e utilizada como modificador químico permanente. O ajuste compromissado dos parâmetros do programa de aquecimento (Tp = 650 ºC e Ta = 2200 ºC) diminuiu a eficiência de decomposição e volatilização térmica de alguns interferentes durante a etapa de pirólise, tornando a atomização simultânea de As, Cd, Pb e Se mais suscetível à interferências. Os ânions Cl- e SO4(2-) causaram as interferências mais severas, enquanto NO3- somente afetou a atomização dos elementos estudados quando presente em elevadas quantidades (> 27 mg). O ânion PO4(3-) provocou uma forte interferência negativa sobre o Se. As interferências causadas pelos cátions Na+, K+, Mg2+, Ca2+ afetaram principalmente o Cd, sendo que os cloretos dessas espécies provocaram interferências mais intensas do que os nitratos.

CONTEXTO: A presença de níveis plasmáticos elevados da homocisteína tem sido associada à ocorrência de trombose arterial e venosa. Uma das causas da elevação da homocisteína plasmática é a presença da mutação C677T no gene da enzima metilenotetrahidrofolato redutase (MTHFR). O anticorpo anticardiolipina (ACA) é associado à ocorrência de trombose e faz parte da síndrome antifosfolípide, juntamente com outras complicações clínicas, como aborto recorrente e óbito fetal. TIPO DE ESTUDO: Relato de caso. RELATO DE CASO: Secundigesta, 19 anos, com antecedente de trombose venosa profunda no puerpério anterior. A investigação de fatores trombofílicos revelou a presença do ACA-IgM e da mutação homozigota C677Tno gene da MTHFR. Foram administradas 55.000 UI/dia de heparina subcutânea, entre a 15ª e a 36ª semanas de gestação, quando evoluiu espontaneamente para parto vaginal. O puerpério transcorreu sem intercorrências e a paciente recebeu alta hospitalar no terceiro dia pós-parto, mas sob tratamento com anticoagulante oral.

CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.

Foram analisadas 7.657 amostras de sangue provenientes de 48 cidades das regiões de São José do Rio Preto e de Presidente Prudente, com o objetivo de detectar e conscientizar os portadores de hemoglobinas anormais. As análises efetuadas mostraram que 3,47% tinham hemoglobinas anormais, sendo 2,26% portadores de variantes moleculares (Hbs, AS, AC, SS, SC, AJ, AB2) e 1,21% de talasse-mias (alfa e beta). Os resultados obtidos evidenciaram que estudos semelhantes, além de propiciar o melhor conhecimento das causas genéticas, bioquímicas e hematológicas dessas alterações hereditárias, oferecem também a oportunidade de estimar a importância que essas patologias representam para a saúde pública do nosso país. A ação preventiva foi estabelecida por meio de reuniões de esclarecimentos médicos e biológicos aos portadores de hemoglobinas anormais.

A study of abnormal haemoglobins among the inhabitants of S. José do Rio Preto and Presidente Prudente was conducted, using blood samples collected from 7,657 subjects attending health clinics in 48 towns of those regions during 1983-1984. For purposes of analysis the subjects were grouped by region of origin and racial features, 6,941 being classified as "caucasoid" and 716 as "negroid", the latter category including negroes, dark mulattoes, and light mulattoes. Electrophoretic techniques were used to detect abnormal haemoglobins, to determine the presence of haemoglobin types S and C, and isolate the polypeptide chains of other abnormal haemoglobins. Tests for quantification of haemoglobin A2 and fetal haemoglobin were performed as needed. Alpha and beta thalassaemias were diagnosed in accordance with principles established by the World Health Organization. These procedures detected abnormal haemoglobin in 266 (3.47%) of the study subjects. These included 173 specific molecular variants (169 of them being type S or type C variants) and 93 thalassaemias (4 of them being alpha thalassaemia and 89 beta thalassaemia, both in heterozygous state). Overall, the prevalence of abnormal haemoglobins was found to be higher among negroids (7.68%) than among the caucasoids (3.02%), and this difference was statistically significant (x²1; 0.01 = 6.64 x²1; 0.05 = 3.84). While the overall prevalence of abnormal haemoglobins among the S. José do Rio Preto subjects did not differ from prevalence among Presidente Prudente subjects, the prevalence of the genotypes detected among the populations analysed of these two cities, and their respective regions, was different. For S. José do Rio Preto and region, the Hb AS was more prevalent among the abnormal haemoglobins (63%), next came heterozygous beta thalassaemia (17%). For Presidente Prudente the prevalences of Hb AS and heterozygous beta thalassaemia, among the abnormal haemoglobins, were 46% and 40%, respectively. The preventive action to be taken was established by means of meetings at which medical and biological explanations were given to the carriers of abnormal haemoglobins. Overall, the results showed that similar studies offer better knowledge of genetic, biochemical and haemotological causes of these hereditary anaemias, and also provide the opportunity of discovering the importance that these pathological states have in the public health of the Brazilian population.

Foram analisadas 7.657 amostras de sangue provenientes de 48 cidades das regiões de São José do Rio Preto e de Presidente Prudente, com o objetivo de detectar e conscientizar os portadores de hemoglobinas anormais. As análises efetuadas mostraram que 3,47% tinham hemoglobinas anormais, sendo 2,26% portadores de variantes moleculares (Hbs, AS, AC, SS, SC, AJ, AB2) e 1,21% de talasse-mias (alfa e beta). Os resultados obtidos evidenciaram que estudos semelhantes, além de propiciar o melhor conhecimento das causas genéticas, bioquímicas e hematológicas dessas alterações hereditárias, oferecem também a oportunidade de estimar a importância que essas patologias representam para a saúde pública do nosso país. A ação preventiva foi estabelecida por meio de reuniões de esclarecimentos médicos e biológicos aos portadores de hemoglobinas anormais.

A study of abnormal haemoglobins among the inhabitants of S. José do Rio Preto and Presidente Prudente was conducted, using blood samples collected from 7,657 subjects attending health clinics in 48 towns of those regions during 1983-1984. For purposes of analysis the subjects were grouped by region of origin and racial features, 6,941 being classified as "caucasoid" and 716 as "negroid", the latter category including negroes, dark mulattoes, and light mulattoes. Electrophoretic techniques were used to detect abnormal haemoglobins, to determine the presence of haemoglobin types S and C, and isolate the polypeptide chains of other abnormal haemoglobins. Tests for quantification of haemoglobin A2 and fetal haemoglobin were performed as needed. Alpha and beta thalassaemias were diagnosed in accordance with principles established by the World Health Organization. These procedures detected abnormal haemoglobin in 266 (3.47%) of the study subjects. These included 173 specific molecular variants (169 of them being type S or type C variants) and 93 thalassaemias (4 of them being alpha thalassaemia and 89 beta thalassaemia, both in heterozygous state). Overall, the prevalence of abnormal haemoglobins was found to be higher among negroids (7.68%) than among the caucasoids (3.02%), and this difference was statistically significant (x²1; 0.01 = 6.64 x²1; 0.05 = 3.84). While the overall prevalence of abnormal haemoglobins among the S. José do Rio Preto subjects did not differ from prevalence among Presidente Prudente subjects, the prevalence of the genotypes detected among the populations analysed of these two cities, and their respective regions, was different. For S. José do Rio Preto and region, the Hb AS was more prevalent among the abnormal haemoglobins (63%), next came heterozygous beta thalassaemia (17%). For Presidente Prudente the prevalences of Hb AS and heterozygous beta thalassaemia, among the abnormal haemoglobins, were 46% and 40%, respectively. The preventive action to be taken was established by means of meetings at which medical and biological explanations were given to the carriers of abnormal haemoglobins. Overall, the results showed that similar studies offer better knowledge of genetic, biochemical and haemotological causes of these hereditary anaemias, and also provide the opportunity of discovering the importance that these pathological states have in the public health of the Brazilian population.