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.

Cystic hygroma: prenatal diagnosis and genetic counselling.

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.

Reciprocal pattern of the TSH and PRL responses to dopamine receptor blockade in women with physiological or pathological hyperprolactinaemia.

The TSH and PRL responses to administration of the two dopamine (DA) receptor antagonists sulpiride and domperidone, were studied in fifteen normoprolactinaemic subjects, twenty-two post-partum women and sixteen subjects with presumptive evidence of (six subjects) or surgically confirmed (ten subjects) prolactinomas. Sulpiride (100 mg i.m.) or domperidone (10 mg i.v.) elicited a slight increase in basal TSH levels in both normoprolactinaemic and post-partum women, but induced a clear-cut TSH rise in subjects with a tumour. Conversely, sulpiride and domperidone strikingly stimulated PRL secretion in normoprolactinaemic and post-partum women, but only slightly enhanced base-line PRL levels in women with prolactinomas. The reason for the reciprocal pattern of TSH and PRL responsiveness to DA receptor blockade of post-partum women and subjects with prolactinomas is presently obscure. Since baseline PRL levels in the two hyperprolactinaemic states overlapped widely, it would appear that hyperprolactinaemia per se is not responsible for such behaviour.

[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.

[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.