Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome.

Stüve-Wiedemann syndrome (SWS) is an extremely rare congenital skeletal disorder associated with significant newborn mortality and morbidity in survivors. Prenatal diagnosis is reportedly possible, but a precise diagnosis is difficult because SWS is part of a heterogeneous group of bone dysplasias. Molecular analysis remains the gold standard for establishing a specific diagnosis of this kind of disorders and for providing effective prenatal counselling. This article presents a case of SWS suspected at prenatal ultrasound in the second trimester of pregnancy and confirmed by multidisciplinary approach at birth.

[Hyperhomocysteinemia: associated obstetric diabetes and fetal malformations]. / Iperomocisteinemia: patologie gravidiche associate e malformazioni congenite.

In its biological complexity, pregnancy represents a challenge both for the maternal organism and the fetal development and growth. During this period, some peculiar pathologies of pregnancy can occur which can involve or the fetus only i.e.: spontaneous pregnancy loss, intrauterine growth retardation, defects of neural tube, until the intrauterine fetal death; or pathologies occurring in the placenta and thus involving maternal organism and fetus too, such as pre-eclampsia. All these pathologies recognize many risk factors, among them the hyperhomocysteinemia. Hyperhomocysteinoemia can be caused by enzymatic defects or lack of some vitamins cofactors (vitamin B6, vitamin B12 and folic acid). The genetic defects which, as homozygous genotype, cause high plasma levels of homocysteine are already well known; they lead to an activity reduction of the enzymes responsible for their metabolism, for example: the deficiency of cystathionine beta-synthase; the deficiency of the methylcobalamine production; the deficit of the 5-10 methylenetethrahydrofolate reductase (MTHFR). However, even the heterozygous genotypes, which have a variable incidence from 1/70 to 1/200 and directly of 5-15% for the C677T mutation of the 5-10 MTHFR, can determine a mild hyperhomocysteinemia with a consequent cardiovascular risk. The close implications, widely demonstrated in the international literature, between hyperhomocysteinemia and the maternal-fetal diseases are described.

[Effect of some drugs on physiological icterus in the newborn]. / Influenza di alcuni farmaci sull'ittero fisiologico del neonato.

The Authors have correlated neonatal jaundice with the administration of oxytocin and prifinium bromide to the mother either alone or in association during labour. The percentage of neonatal jaundice in women treated with ritodrine hydrochloride during the second and third trimester of pregnancy was also calculated. A total of 1.101 deliveries were taken into consideration between January 1984 and June 1986. Thirty-three patients were treated with oxytocin alone; 444 patients with oxytocin and prifinium bromide; 81 patients with ritodrine hydrochloride during the second and third trimesters of pregnancy, and 192 patients were untreated. This study indicates that all drugs may contribute to producing neonatal jaundice, as shown in the graphs, and drugs during labour should be used with extreme caution and be limited in quantity and period.

Female genital tissue concentrations of roxithromycin.

A new macrolide, roxithromycin, appears to have some interesting pharmacokinetic characteristics dissimilar to those of erythromycin, e.g. it has the unusual property of a long serum half-life and the possibility of once daily dosing. Moreover tissue levels are higher than those obtained with other macrolides, and the drug is still present in the tissues up to 24 h. after dosing. The pharmacokinetics of roxithromycin were studied in 36 women undergoing gynecological surgery, and divided by means of the time of sampling into six different groups. Each group received an initial 300 mg dose followed by 8 successive doses of 150 mg at 12 h intervals. Blood and tissues samples were taken during surgery at 2, 6, 9, 12, 18 and 24 h after the last dose of roxithromycin and the patients were then allocated to one of the six groups by means of the sampling time. Tissue fragments were obtained from ovary, fallopian tubes, endometrium, myometrium, cervix and vagina immediately after the surgical resection of the organs. Tissue and serum concentrations were determined by the microbiological method using Sarcina lutea ATCC 9341; the lowest limit of detection was 0.01 microg/ml or 0.01 microg/g. Roxithromycin reached the highest concentration at the 9th hour after last administration and its tissue levels would encourage a wide use of this drug as a satisfactory alternative to tetracyclines for the therapy of some gynecological infections.

Human fetal insulin secretion in response to maternal glucose and leucine administration.

Maternal and fetal serum insulin response to glucose, leucine and leucine plus glucose was examined by infusions to normal pregnant women at term immediately before cesarean section. The maternal infusion of glucose (50 g) for 30 or 60 minutes was associated with a marked hyperglycemia and with a rise in serum insulin in mother and fetus. The fetal insulin response to the administration of glucose for 60 minutes was higher (p less than 0.01) than when the same dose was given for 30 minutes, while the blood glucose was lower (p less than 0.01). The maternal infusion of a smaller dose of glucose (25 g) or leucine (15 g) for 60 minutes produced an increase in serum insulin only in the mothers. However the simultaneous administration of these substances stimulated maternal and fetal insulin secretion. The fetal insulin level produced was similar to that seen after the maternal infusion of 50 g of glucose for 60 minutes, while the cord blood glucose was slightly higher but significantly different (p less than 0.01) than that seen in the saline infused group.

A prospective study of 18 infants of chronic HBsAg mothers.

28 of 1002 pregnant Sicilian women (2.8%) were asymptomatic HBsAg chronic carriers. 18 children of these women were followed and at least 15 of them showed evidence of transplacental infection with HBsAg, resulting either from the presence of the antigen in cord blood, or from the development of the corresponding antibody in the serum within the first 2 months of life. Despite this, only 2 or 3 of the infants developed chronic antigenaemia from age 2--4 months. Only the infants whose mothers were HBeAb-negative, and who themselves remained HBsAb-negative during the first months of life, became HBsAg carriers. On the basis of these results, a strategy is suggested for selecting infants from areas with a high prevalence of HBsAg carriers so that they can be given passive immunisation with hyperimmune globulin.