Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.

Dopa-responsive dystonia (DRD), also known as Segawa syndrome or hereditary progressive dystonia with diurnal fluctuation, is clinically characterized by the occurrence of simultaneous or late Parkinsonism and by an excellent response to treatment with low doses of L-dopa. Diagnosis of DRD is essentially clinical. It is based on clinical history and the response to treatment with low doses of L-dopa. However, due to the low penetrance of the disease, asymptomatic carriers may exist. In these cases, mutational analysis of the GCH1 gene is an alternative to diagnose DRD. In the present study, we investigated a large DRD-carrier family in an attempt to identify the disease-causing mutation. The proband, a young woman diagnosed at the age of 13 years, is the daughter of a healthy non-consanguineous couple with history of several cases, on the maternal side of the family, of tip-toeing, disturbance of gait, Parkinsonism, rigidity and cramps in the lower limbs. Using single strand conformational polymorphism and DNA sequencing techniques to analyze DNA extracted from blood samples, we identified a mutation in the GCH1 gene, IVS5+3insT, which would preclude the formation of the active enzyme due to the formation of truncated peptides.

The role of indomethacin and tezosentan on renal effects induced by Bothrops moojeni Lys49 myotoxin I.

Renal changes determined by Lys49 myotoxin I (BmTx I), isolated from Bothrops moojeni are well known. The scope of the present study was to investigate the possible mechanisms involved in the production of these effects by using indomethacin (10 microg/mL), a non-selective inhibitor of cyclooxygenase, and tezosentan (10 microg/mL), an endothelin antagonist. By means of the method of mesenteric vascular bed, it has been observed that B. moojeni myotoxin (5 microg/mL) affects neither basal perfusion pressure nor phenylephrine-preconstricted vessels. This fact suggests that the increase in renal perfusion pressure and in renal vascular resistance did not occur by a direct effect on renal vasculature. Isolated kidneys from Wistar rats, weighing 240-280 g, were perfused with Krebs-Henseleit solution. The infusion of BmTx-I increased perfusion pressure, renal vascular resistance, urinary flow and glomerular filtration rate. Sodium, potassium and chloride tubular transport was reduced after addition of BmTx-I. Indomethacin blocked the effects induced by BmTx-I on perfusion pressure and renal vascular resistance, however, it did not revert the effect on urinary flow and sodium, potassium and chloride tubular transport. The alterations of glomerular filtration rate were inhibited only at 90 min of perfusion. The partial blockade exerted by indomethacin treatment showed that prostaglandins could have been important mediators of BmTx-I renal effects, but the participation of other substances cannot be excluded. The blockage of all renal alterations observed after tezosentan treatment support the hypothesis that endothelin is the major substance involved in the renal pathophysiologic alterations promoted by the Lys49 PLA(2) myotoxin I, isolated from B. moojeni. In conclusion, the rather intense renal effects promoted by B. moojeni myotoxin-I were probably caused by the release of renal endothelin, interfering with the renal parameters studied.

[The effect of recombinant human erythropoietin on the treatment of anemia of prematurity] / O efeito da eritropoetina humana recombinante no tratamento da anemia da prematuridade.

OBJECTIVE: To assess the efficacy of erythropoietin in the prevention and treatment of anemia of prematurity, correlating the use of this drug with weight gain, length, and head circumference and comparing two administration schemes of he same weekly dose: daily use and twice a week. METHODS: The study comprised 42 premature newborns with gestational age up to 33 weeks, birthweight up to 1550 g, and postnatal age between 10 and 35 days. The newborns were randomized into three groups: patients in group 1 received seven daily doses of 100 U/kg erythropoietin per week; patients in group 2 received two 350 U/kg erythropoietin doses per week; and patients in group 3 did not receive the drug. Hematologic measurements, blood transfusion requirements, and growth rates were followed during therapy. RESULTS: Cases and controls did not differ with respect to weight, length, head circumference, and total time of hospital stay. At the end of the study, no significant difference was observed in the platelet count measurement means, white blood cell count, and ferritin levels in the three groups. However, the final hematocrit and hemoglobin values of patients who did not receive erythropoietin were significantly lower than those of patients who received the drug. The absolute reticulocyte count mean was significantly higher in patients who received erythropoietin after two weeks of treatment when compared with those patients who did not receive the drug. Patients in group 1 e 2 received fewer excessive transfusions (2 or more) than patients in group 3. The administration of 700 U/kg/week erythropoietin significantly reduced the number of excessive blood transfusions. There is no significant difference in blood transfusion volume between patients who received erythropoietin on a daily basis and those who received the drug twice weekly. CONCLUSIONS: the use of erythropoietin did not influence weight gain and growth. The administration of 700 U/kg/week erythropoietin in premature infants with gestational age up to 33 weeks and birthweight up to 1550 g stimulates erythropoiesis and significantly reduces excessive blood transfusion requirements. Erythropoietin showed to be a safe and well tolerated medication, with no short-term side effects in the study population.

[Evaluation of umbilical cord pH and its relationship with Apgar score in term newborn infants]. / Avaliação do pH de sangue de cordão umbilical e sua relação com o escore de Apgar em recém-nascidos a termo.

The value of the Apgar score as an index of birth asphyxia has been recently questioned. The purpose of the present study is to evaluate the relationship between cord blood pH and Apgar score in term newborn infants.A cross-sectional study involving 76 term newborn infants was performed from March through September 1995 at the Obstetric Unit of Hospital de Clínicas de Porto Alegre. The blood samples were obtained from umbilical cord artery and vein at the moment of delivery. Infants were divided in three different groups according to the Apgar score: Group A (n=60): >or=7 at one and five minutes; Group B (n=13): < 7 at one minute and >or=7 at five minutes; Group C (n=3): < 7 at one and five minutes. The frequency of acidemia in Group A was 18.3% (11 newborn infants) considering arterial pH < 7.20 and 5% considering arterial pH or= 7.20 and nine (56.2%) had arterial pH > 7.10. None of the newborn infants in Group C had arterial pH > 7.10. The sensitivity and specificity values for Apgar score less than 7 at one minute for detection of fetal acidemia were, respectively, 54.1% and 94.1%. This study confirms a poor correlation between Apgar score and umbilical blood cord pH, even in a term newborn, and emphasizes the importance of obtaining umbilical cord pH to consider the diagnosis of perinatal asphyxia.

[Maternal knowledge on breastfeeding and related factors]. / Conhecimentos maternos em amamentação e fatores associados.

The influence of maternal knowledge about breastfeeding on the initiation and duration of lactation has been described. The present study evaluated the maternal knowledge about breastfeeding and its relationship with prenatal and postnatal orientation and prevalence of breastfeeding at 3 months. A cross-sectional study was designed involving 100 mothers of first-born babies between 6 and 12 months old receiving medical care in the Hospital de Clínicas de Porto Alegre. The mothers answered a standardized questionnaire containing 14 questions to test knowledge on breastfeeding. The majority of mothers (62%) could not answer correctly half of the questions. Those more educated, who received prenatal orientation about breastfeeding and who had at least 5 prenatal visits had better knowledge. On the other hand, mothers who received postnatal orientation did not present a better knowledge. Prevalence of breastfeeding at 3 months was not related to maternal knowledge on the subject. The maternal knowledge about many aspects of breastfeeding was low. Postnatal orientation did not increase this knowledge. On the other hand, prenatal orientation had a positive impact on maternal knowledge about breastfeeding. Nonetheless this increase in knowledge was not sufficient to interfere with the prevalence of early interruption of breastfeeding.

Interconsultas medico-psiquiatricas.Relato de uma experiencia. / Medico-psychiatric interconsultation-report of a case

A partir de uma experiencia no Setor de Interconsultas do Ambulatorio de Saude Mental do Hospital de Clinicas da UFRJ, e feita uma discussao critica dos trabalhos de Balint, na Inglaterra, e Ferrari e Luchina, na Argentina. Sao narrados tres casos de "interconsultoria" solicitados pelas clinicas do hospital, comentando-se a forma de atuacao da equipe. Constata-se na atualidade, a implantacao de uma medicina psicologizada que preconiza os dispositivos psiquiatricos para toda a pratica medica, com base no saber psicanalitico, minimizando a demarcacao entre o normal e o patologico e conferindo ao psiquiatra/ psicoterapeuta o poder de intervencao interpretativa a todo ato medico