No abstract

SummaryGenetic typing of serum transferrin was performed in a group of 88 extremely premature infants (gestation age <32 wk) and in a control group of 351 full-term infants, using isoelectric focusing technique on ultrathin layer of polyacrilamide gel. A major incidence bf Cz type was found among the preterm infants when compared to full-term infants X2 = 22,86, (P < 0.001).In view of the previously reported higher incidence of this phenotype in women prone to spontaneous abortion, a selective mechanism associated with this serum transferrin type promoting spontaneous abortion and preterm delivery, seems to occur. The relative risk of preterm delivery were calculated to 1.4 and 8.3 for the Cz-l and Cz types, respectively. Supportive evidence in favour of this hv~othesis is offered bv the correlation existing between ".transferrin Cz allele and placeital alkaline phosphatase;ariant F, the latter being associated with increased risk of spontaneous abortion. SpeculationAssessment of the familial genetic pattern of serum transferrin may result to be a useful procedure for the evaluation of genetic risk of abortion and preterm delivery.The molecular polymorphism of transferrin (Tf), the iron-binding p globulin of the human serum, has been extensively studied by the use of starch gel electrophoresis (9); subsequently, the isoelectric focusing technique has brought evidence of a greater microheterogenity of the most commonly encountered C allele: two transferrin suballeles can be detected with this technique, C, (anodal) and C2 (cathodal) (7,13,14) (Fig. 1).Recently, the Tf suballele Cz was found to have a high incidence in women prone to spontaneous abortion: the relative risk of abortion was found to be 2.3, 1.4, 0.6 for the C2, C2-I, and C I subtypes, respectively (2). The aim of the present study was to investigate on the relationships existing between the transferrin C polymorphism and extremely premature delivery. MATERIALS AND METHODSWe have compared gene frequencies of the Tf C alleles in a group of 88 preterm infants (gestational age <32 wk) and a group of 35 1 term controls taken at random from population of healthy newborn delivered in the same period of time. About 40% of the infants of these two groups originated from the province of Rome, the remaining 60% from the province of Arezzo (Tuscany). It was ascertained that gene frequencies of the Tf alleles are identical in the two provinces and therefore computation was operated regardless of the place of origin.Cord serum samples were obtained at delivery and stored at -20°C before the determination. The informed consent was obtained from the parents.The gestational age was calculated on the basis of the date of the first day of the last menstrual period and on obstetric and neonatal objectivity (8). If discordance aroused between our estimation and that of the mother, the infant was excluded from the study.Four preterm infants were deliberately excluded from this study because preterm delivery was ascribed to specific causes, such as uterus malformation, ac...

SUmmARY A 14-year-old boy had suffered from intermittent acute hepatic porphyria, myoclonic convulsions, and mental retardation (LennoxGastaut syndrome). The porphyria was treated by stopping the administration of phenobarbitone and phenytoin. Sodium valproate at a dose of 70 mg/kg per day lessened the severity and frequency of convulsive crises.Acute intermittent porphyria (AIP) is rare in children, but is not unknown. In a survey of reports on such children, Barclay (1974)

The molecular polymorphism and quantitative levels of serum vitamin D-binding protein (DBP) were ascertained in a group of preterm, full-term and hypocalcaemic full-term newborn infants. The serum concentration of DBP is not influenced by phenotype and increases with fetal age from the 32nd-33rd week of gestation until the 35th week of gestation. Neither different DBP allele distribution nor abnormal quantitative levels found among 29 hypocalcaemic full-term newborn infants.