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Biomedical subjects

G Segni

Publications and source records attributed to G Segni.

At least 37 records · Page 2Linked to original sources
PubMed1985

Maternal epilepsy and birth defects: a case-control study in the Italian Multicentric Registry of Birth Defects (IPIMC).

A case control study on the association between maternal epilepsy, anticonvulsants use during pregnancy and birth defects was carried out in the Italian Multicentric Registry of Birth Defects (IPIMC). In the period 1980-1983, 7,607 malformed babies out of 439,717 total births (still + live) were registered. Fourty-one malformed babies with maternal epilepsy were identified (5.39 X 1,000). The overall relative risk of having a malformed baby among pregnant epileptic women was 1.87. Spina Bifida, Congenital Heart Defects, Clefts, Diaphragmatic Hernia and Trisomy 18 were more frequent than expected among babies with maternal epilepsy. The different therapeutic regimens were also tested to identify the possible independent teratogenic effect of anticonvulsants. A statistically significant association between Spina Bifida and Valproic Acid (odds ratio 22.7; Fisher p value = 0.0364) was observed: no other anticonvulsant tested showed any association with any type of malformation.

Abnormalities, Drug-Induced↗
PubMed1982

Serial blood T4 and TSH determinations in low birth weight infants. Influence of gestational age, birth weight and neonatal pathology on thyroid function.

Serial blood T4 and TSH determinations were performed on a total number of 352 low birth weight (LBW) infants: 210 healthy newborns and 142 infants affected by respiratory distress syndrome (RDS), sepsis, hyperbilirubinaemia, hypocalcemia, or hypoglycemia. The healthy infants have been divided into three groups in relation to gestational age (less than or equal to 33 wk, 34-36 wk, greater than or equal to 37 wk). Statistical evaluation among groups shows that reduced T4 concentration in LBW infants is strictly related to gestational age, while TSH failed to demonstrate any significant correlation. No significant influence of birth weight on T4 and TSH has been observed. The preterm newborns affected by RDS or sepsis showed a significant reduction of mean T4 concentrations up to 20th day of life when compared with healthy controls similar for gestational age and birth weight. TSH levels are not significantly different. No significant modifications of T4 and TSH have been found related to the other pathological conditions. The significant reduction of T4 and the high incidence of subjects with low T4 values observed in healthy and sick preterm population lend further support to the use of TSH determination for optimum screening of congenital hypothyroidism.

Birth Weight↗
PubMed1981

Ultrastructural studies of type II fucosidosis.

Type II fucosidosis in an autosomal recessive disease. The paper presents a case of a patient with alpha-L-fucosidase of whom a skin specimen was examined under the electron microscope. Storage material was observed mainly in endothelial cells of blood capillaries and Schwann cells surrounding small peripheral nerves of papillary dermis. Within both cells two different kinds of inclusions were revealed: (1) clear vacuoles and (2) dense bodies with an internal structure prevalently lamellar. All these ultrastructural alterations were observed long before the appearance of clinically defined angiokeratoma at cutaneous level. Hence, they present the same alteration found in the absence of angiokeratoma in type I fucosidosis.

Angiokeratoma↗
PubMed1977

Bucolome in prevention of hyperbilirubinaemia in preterm infants.

Fifty preterm babies were randomly assigned to a group given oral bucolome (30 mg/kg per day for 5 days) and a control group. Serum bilirubin levels of the treated infants from day 4 onwards were consistently lower than those of the control infants. 3 of the 25 control infants (but none of the 25 treated infants) had bilirubin levels greater than 18 mg/100 ml (308 mumol/l) and required exchange transfusion. No sedation or drowsiness was observed in the infants given bucolome, and though the drug caused some vomiting, weight gains were unaffected.

Barbiturates↗