Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.

Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). Prenatal diagnosis is based on safe chorionic villus sampling procedures. We test acid lipase activity in cultured chorionic villus cells, selected from a biopsy performed during the 8th week of pregnancy. We now report the first prenatal diagnosis of heterozygosity for Wolman's disease during the first trimester of pregnancy. Reduced acid lipase activity was shown in the chorionic villi cells using a natural substrate (Cholesterol 14C oleate). The diagnosis was confirmed by the demonstration of reduced acid lipase activity in cultured amniotic cells and in the newborn lymphocytes. Early prenatal diagnosis in pregnancies at risk for lysosomal storage diseases is possible when enzyme activity levels in chorionic villi are similar to those in cultured amniotic cells and in infant cells.

[Clinical study on the use of methergoline for the inhibition of lactation during the puerperium]. / Studio clinico sull'uso della metergolina nella inibizione della lattazione in puerperio.

Methergoline was administered for 5 consecutive days starting on the morning after delivery in the block of lactation in 30 patients. The efficacy of the drug was evaluated in terms of milk production, and mammary congestion and pain. The results obtained and the absence of side-effects showed that the drugs was very suitable for this purpose.

[Uterine surgery. Clinical results in 40 cases]. / Metroplastiche. Risultati clinici in 40 casi.

The results obtained in 40 cases of uterine malformation following metroplastic surgical correction have been examined. The technique employed is based on the Brett-Palmer technique with some variations designed by P. N. Siliquini aimed at respecting the myometrium of the two matrices.

[Clinical behavior and outcome of 213 cases of tubal sterility]. / Comportamento clinico ed esiti in 213 casi di sterilità tubarica

The problem of oviduct sterility is an important section in the enormous field of female sterility. Current diagnostic findings enable us to document oviduct obstructions arising following silent inflammatory processes in the adnexa. Of these, genito-pelvic TB is one of the most important aetiological agents of sterility. Medical therapy with hydrointubation alone and surgical treatment (salpingoplasty) are discussed. All cases of oviduct obstruction, including those subsequent ot episodes of genito-pelvic TB which had stabilized without serious endosalpingeal impairment, were treated surgically. The results obtained with the various salpingoplasty techniques were encouraging although the number of cases considered to be negative was increased by all the patients coming in from other regions that could not be followed up. Special attention was paid to peri- and postoperative treatment to prevent processes of adhesion invalidating recreated oviduct patency. Remembering the high percentage of stabilized genito-pelvic TB among operated patients there was absolutely no resort to the massive cortisone treatment used by other workers in the postoperative period.

[Maternal and neonatal factors determining bilirubinemia during the 1st four days of life]. / Fattori materni e neonatali nel determinismo della bilirubinemia nei primi quattro giorni di vita.

The influence of various maternal and neonatal factors on blood bilirubin is examined. An increase in neonatal values may be due to the relatively advanced age of the mother, whereas neonatal age, sex and weight, increase in maternal weight during pregnancy, and maternal body surface area would appear to be without influence.

[Trophoblastic disease in one ovum in a twin pregnancy]. / Malattia trofoblastica di un uovo in gravidanza bigemellare.

A case of trophoblastic disease in a twin pregnancy is described from its diagnosis to follow-up after emptying of the uterine cavity. The possible causes of trophoblastic disease are discussed.