[Systematic approach to a difficult diagnostic problem].
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Biomedical subjects
Publications and source records attributed to F D Muskiet.
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OBJECTIVE: To evaluate if routine antenatal screening for congenital syphilis (CS) was adequately implemented. DESIGN: Retrospective study. SETTING: Curaçao, St. Elisabeth Hospital. METHOD: From 1987-1991 16 infants were treated for congenital syphilis in the paediatric department of the St. Elisabeth Hospital. From hospital and lab records, syphilis serology of their mothers before and during pregnancy and at delivery were indexed as well as cord blood values. The response in case of positive syphilis serology was traced. RESULTS: During the evaluation period the congenital syphilis incidence was 1.1/1000 life born infants. 9 pregnant women avoided prenatal care. Despite positive syphilis serology in the 1st (1 patient) and 3rd trimester (4 patients) no action was undertaken. In 4 neonates with congenital syphilis no cord blood sample for screening was taken. On 2 occasions the cord blood RPR was false-negative. (Re)screening was not performed at delivery in 3 mothers although positive serology was found during pregnancy. CONCLUSION: Screening for congenital syphilis was not always applied. Insufficient action was noted if positive syphilis serology was detected. Intensification of screening for congenital syphilis in Curaçao is necessary especially for mothers with poor prenatal care. The need for immediate post partum screening for mother and child is stressed.
We evaluated the use of an HPLC method for screening hemoglobins in cord blood. We studied the genotype frequencies of the structural hemoglobin variants HbS and HbC and the synthesis variants alpha- and beta(+)-thalassemia in babies born on Curaçao. During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglobinopathy (HbS or HbC), 64 (52.2%) had alpha-thalassemia (HbBarts greater than 0.5%, corresponding to heterozygous or homozygous alpha-thalassemia-2), and 5 (4.1%) had a hemoglobinopathy plus alpha-thalassemia. None of the newborns with heterozygous HbS and HbC had concomitant beta(+)-thalassemia. The population genotype frequency of heterozygous alpha-thalassemia-2 was calculated to be 30.7%. The data are in excellent agreement with those previously established for the adult population and those available from the black population in the United States and Jamaica. Based on the HPLC results, we estimate that 67.1% of newborns with heterozygous alpha-thalassemia-2 remain undetected. A coincidental finding was a relation between demonstrable alpha-thalassemia and short gestation. Because of its superior separating power and high sensitivity for quantifying relatively low percentages of hemoglobins in the presence of HbF0, the HPLC method was preeminently suitable for screening cord-blood samples.
Thirteen patients (aged 0.7-17.9 y) with homozygous sickle cell disease were supplemented with alpha-tocopherol, vitamin C, zinc, and soybean oil (suppl 1; for 8 mo) and alpha-tocopherol, vitamin C, and fish oil (suppl 2; for 7 mo). Urinary zinc (suppl 1), plasma vitamin C, plasma cholesterol ester and erythrocyte (RBC) omega 3 fatty acids (suppl 2), and plasma and RBC alpha-tocopherol (suppl 1 and 2) increased. Suppl 1 decreased irreversibly sickled cells by 37.5%, decreased RBC protoporphyrin and urinary porphyrins, and increased the RBC total fatty acid-cholesterol ratio. Suppl 2 decreased plasma triglycerides, further increased the RBC alpha-tocopherol, moderately increased the RBC double-bond index, but decreased the RBC total fatty acid-cholesterol ratio. Zinc, copper, and porphyrins showed prolonged changes. The supplements did not change hemoglobin concentrations, RBC age (reticulocytes, polyamines), or number of aplastic and vasoocclusive crises. Zinc reduces irreversibly sickled cells. Augmentation of RBC antioxidant status by alpha-tocopherol and vitamin C and incorporation of omega 3 fatty acids into RBCs do not affect hemolytic component. Effects on vasoocclusive component are unclear.
Plasma and erythrocyte levels of zinc, copper, fatty acids, total cholesterol and cholesterol sulfate, and plasma vitamin E and free cholesterol were measured in six pediatric patients with HbSS sickle cell anemia, one adult patient in crisis and six age-, sex- and race-matched pediatric controls. Patient plasma zinc levels were significantly decreased, while erythrocyte zinc levels were normal. Although subject to a large range, plasma vitamin E levels were not significantly altered. For patients an increased plasma percentage of free cholesterol, increased levels of oleic acid and vaccenic acid, and decreased values for total cholesterol were found. Erythrocyte fatty acid analyses revealed a significant decrease in total polyunsaturated fatty acids which was 'compensated' for by increased total monounsaturated and saturated fatty acids. The low amounts of total polyunsaturated fatty acids could completely be ascribed to decreased levels of linoleic acid. Erythrocyte cholesterol levels were significantly increased, while the total fatty acid/cholesterol molar ratio was found to be subject to a relatively large range. Cholesterol sulfate determinations showed that patients had relatively low plasma or erythrocyte levels, or both. The present results are suggestive of a lipid peroxidation mediated, and hepatic and/or splenic dysfunction mediated lipid component in the rigidification of the sickle cell membrane.
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