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Biomedical subjects

E Sacchi

Publications and source records attributed to E Sacchi.

28 records · Page 2Linked to original sources
PubMed1992

Carrier detection and prenatal diagnosis of hemophilia A: 5-years experience at a hemophilia center.

The identification of carriers and the prenatal diagnosis of hemophilia A have greatly improved with knowledge of the structure of the factor VIII gene. This has permitted the defect to be traced in families by using restriction fragment length polymorphisms. This study summarizes 5 years' experience at A. Bianchi Bonomi Hemophilia and Thrombosis Center and the problems encountered. One hundred and forty-four women at risk of hemophilia A from 93 families were referred to our center for DNA analysis. Carrier detection was performed in 95 women, including 11 who were pregnant. Prenatal diagnosis was performed at 7-14 weeks' gestation in 56 pregnant women. We employed two intragenic restriction fragment length polymorphisms (XbaI and BclI) and the two extragenic restriction fragment length polymorphisms (TaqI and BglII). Combining the results of intra and extragenic restriction fragment length polymorphisms with pedigree analysis, a diagnosis was reached in approximately 90% of cases. Of the 33 male fetuses, 11 were affected and 19 not affected. Two cases of recombination between extragenic restriction fragment length polymorphisms and the factor VIII locus were found.

Chorionic Villi Sampling↗
PubMed1987

Intravenous and subcutaneous administration of desmopressin (DDAVP) to hemophiliacs: pharmacokinetics and factor VIII responses.

When desmopressin (DDAVP) is given to mild and moderate hemophiliacs intravenously (i.v.) or subcutaneously (s.c.), there is a very large between-patient variability for peak levels of factor VIII coagulant activity (VIII:C). To evaluate whether or not between-patient variability is related to DDAVP levels achieved in plasma, we measured drug levels in 14 hemophilic volunteers (VIII:C 2 to 31 U/dL) who were randomly given 0.3 micrograms/Kg of i.v. or s.c. DDAVP and crossed-over to the other treatment after an interval of 15-30 days. Peak DDAVP levels (Cmax) were higher for i.v. DDAVP (p less than 0.02), times to peak levels (tmax) were shorter for i.v. DDAVP (p less than 0.001). There was no difference between the i.v. and s.c. routes for plasma DDAVP time curve (AUC) and half-life (t 1/2), but there was much larger variability for pharmacokinetic parameters with i.v. than with s.c. DDAVP. Post-DDAVP VIII:C increased 3.4 +/- 1.6 fold (i.v.) and 3.3 +/- 1.3 fold (s.c.) over baseline levels, with no significant correlation between peak VIII:C and DDAVP levels for either route of administration. These findings establish the s.c. route of DDAVP administration to be bioequivalent in effect to the i.v. route, albeit with less variability. At the DDAVP dosage used in this study and currently recommended for therapy, the VIII:C response is neither a function of the rate of absorption of the compound nor of the magnitude of its plasma concentration.

Deamino Arginine Vasopressin↗
PubMed1985

[Flunarizine in the treatment of arteriopathies of the legs].

Flunarizine, a long-acting calcium antagonist, was studied in patients with peripheral vascular disease in order to assess its effects on blood viscosity, erythrocyte deformability, platelet activity and some clinical parameters. A randomized double-blind study was performed; all patients were given a standard diet, invited to abstain from smoking and to carry out a regular daily exercise (walking). After a 2-month run-in period the patients were divided into two groups: one was treated with flunarizine 10 mg/day and the other with placebo. The group treated with flunarizine presented marked and significant reduction of erythrocyte filtration time and blood viscosity and an improvement of the treadmill-free interval with a correlation between the parameters considered.

Aged↗
PubMedDate not supplied

Diagnosis of hemophilia A in a female subject by using restriction fragment length polymorphisms linked to the factor VIII gene.

A 6-year-old girl, daughter of a male patient with moderate hemophilia A (factor VIII 3%), was referred to our Center because she also had very low levels of factor VIII (4%). The proband's brother has mild hemophilia A (7%); the mother (29%) is a possible carrier, no other case of hemophilia A being reported in her family. Hence, the factor VIII deficiency found in the girl is consistent either with a carrier state with extreme lyonization in favour of the hemophilic gene or with homozygosity for the hemophilia gene. To distinguish these possibilities, we studied the segregation of three restriction fragment length polymorphisms (RFLPs) linked to the factor VIII gene in the 4 members of the family. Employing one intragenic (FVIII-BclI) and two extragenic (St14-TaqI and Dx13-BglII) RFLPs, we showed that the proband has inherited from both parents the defective gene, being therefore homozygous for the hemophilia gene.

Child↗