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Biomedical subjects

G Simoni

Publications and source records attributed to G Simoni.

At least 91 records · Page 5Linked to original sources
PubMed1989

Trisomic 22 placenta in a case of severe intrauterine growth retardation.

We describe a case in which a trisomic 22 placenta could be the cause of severe growth retardation in a chromosomally normal female fetus. At amniocentesis a mosaic 46,XX/47,XX, +22 was observed in amniotic fluid specimens sampled on two different occasions, while fetal blood from a diagnostic cordocentesis revealed a normal chromosome constitution. Postnatal studies showed the consistent presence of trisomic 22 cells in the placenta, while only normal metaphases were found in amnion, blood, and fibroblast cultures.

Chorionic Villi↗
PubMed1989

Seven cases of trisomy 3 mosaicism in chorionic villi.

This paper describes seven cases of confined chorionic mosaicism with trisomy 3. The chromosomally abnormal cell line in chorionic villi was revealed in three cases at diagnostic CVS and in four cases at the evacuation of the uterine cavity after a missed abortion had been diagnosed by ultrasound. In two of these cases, the abortion occurred after apparently normal development of the fetus during the second trimester of pregnancy. An evaluation of the effect of confined chorionic mosaicism with trisomy 3 on the viability of the conceptus has been attempted.

Abortion, Missed↗
PubMed1989

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction.

Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.

Adolescent↗
PubMed1988

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B.

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-alpha-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.

Acetylglucosaminidase↗
PubMed1987

Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions.

Cytogenetic analysis was performed directly on villus material from 202 samples obtained at the evacuation of the uterine cavity in cases of retained abortion in the first trimester, identified as such by ultrasound examination. A precise delineation of the karyotype was obtained in 94% of the cases, while the efficiency of karyotype analysis in samples of spontaneous abortion was not higher than 50%. An abnormal chromosome constitution was found in 145 fetuses (76.7%) of which 117, including mosaics, were aneuploid (70%), 16 polyploid (8.5%) and 12 had structural abnormalities (6.3%). The relative proportion of chromosome abnormalities in this material is higher than that found in spontaneous abortion for trisomies and double trisomies, but lower for 45,X and polyploidy. The method was found to be efficient in obtaining fetal karyotypes also in those cases in which the villous material was scarce (1 mg), and thus it seems appropriate for routine cytogenetic studies in the first trimester abortions.

Abortion, Spontaneous↗
PubMed1986

Starch microsphere-induced arterial flow redistribution after occlusion of replaced hepatic arteries in patients with liver metastases.

In four patients with major anomalies of the hepatic artery undergoing intra-arterial chemotherapy, aberrant lobar vessels were ligated and catheters were inserted into the contralateral artery. Catheter perfusion scans performed early after ligation with 99mTc-macroaggregated albumin (MAA) showed a defective perfusion of the lobe supplied by the occluded artery (0.43, 0.23, 0.11, and 0.28, respectively, as compared to the contralateral lobe). Further MAA scans performed after catheter infusion of 90,000,000 parts of degradable starch microspheres (DSM) showed a near normal perfusion of the ischemic lobe (0.91, 0.96, 0.87, and 0.98). On the contrary, simple MAA scans performed in the first two patients 114 and 135 days after ligation showed a still defective arterial perfusion of the ischemic lobe (0.60, and 0.24). The DSM-induced redistribution of flow towards ischemic portions of the liver suggests a possible new role of DSM in regional treatment of liver tumors in cases with either occlusion of aberrant vessels or "hypovascular" tumors.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1986

[Comparison of the performance of a totally implantable pump and conventional access systems in regional arterial chemotherapy of liver tumors].

Forty-nine patients with liver tumors have been submitted to regional arterial chemotherapy by means of either totally implantable Infusaid 400 pumps (29 casse) or implantable ports (20 cases). The latter were subsequently perfused with external pumps. There was one single major operative complication and no operative deaths. Most patients underwent continuous FUDR infusion. Access related complications in the Pump and Port groups respectively included 1 and 0 malfunctions, 7 and 2 seromas, 2 and 0 pocket necroses, 8 and 10 thromboses, 2 and 4 catheter dislocations, 0 and 2 portal breakages. Treatment was stopped for access related complications in 5 and 5 patients respectively. In most of those cases, however, more than 6 cycles of chemotherapy have been performed. The Infusaid 400 pumps showed a 12-month duration of 58.4% with a 13 month median versus 17% and 9 month median of the Ports. The difference was not significant. The new implantable systems give better results in comparison with traditional regional methods; the performance of the Port systems appear very similar to the totally implantable pumps, with an obvious advantage, however, for the pumps as far as quality of life is concerned.

Adenocarcinoma↗
PubMed1986

Chromosome changes in human monocytic cell lines with in vitro spontaneous malignant transformation.

Serial chromosome studies were performed on four monocytic cell lines established from bone marrow samples of patients suffering from hematopoietic disorders other than leukemia. A spontaneous in vitro transformation towards a malignant phenotype has been found to be related to the karyotype evolution. The correlation between the chromosome changes of these cell lines and those described in human cancer and leukemia is discussed.

Adolescent↗