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Biomedical subjects

G Simoni

Publications and source records attributed to G Simoni.

At least 127 records · Page 7Linked to original sources
PubMed1981

[Evaluation of blood flow using a reservoir flowmeter of several types of arteriovenous fistulas in chronic hemodialysis treatment].

Blood flow of nine end to end and eight side to side arteriovenous fistulas (AVF) at distal forearm for maintenance hemodialysis, was measured by blood flowmeter inserted in the arterial line between the pump and the dialyzer. The mean flow of the end to end and the side to side fistulas was 386.6 +/- 69.6 ml/min and 345 +/- 45 ml/min (p 0.01) respectively. Since, in addition, the end to end flow seems to be better than the side to side flow as regards local and general effects, we advocate the use of end to end fistulas.

Adult↗
PubMed1980

The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31).

A marriage between two first cousins who have the same 2/7 balanced translocation is reported. The chromosome rearrangement was primarily detected in amniotic fluid cells cultured for prenatal chromosome analysis because of advanced maternal age. The translocation was also found in the couple's two normal children and in three other members of the family. The possible zygotic chromosome constitutions following 2:2 meiotic segregation in consanguineous parents with the same translocation are discussed.

Adult↗
PubMed1980

47,XXX chromosome constitution in a male.

An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports.

Adolescent↗
PubMed1980

X chromosomes attached by their short arm : presence of an inactive centromere influences the replication patterns.

A 19 years old girl with gonadal dysgenesis and short stature had one giant chromosome formed by two X-chromosomes attached by their short arms 46,X,i dic(X) (p223::p223) A 45,X cell line was present in 40% of cultured lymphocytes but only in 2% of fibroblasts cultured from the right gonad and absent in fibroblasts from the left gonad and skin. The abnormal chromosome had one Cd-positive, active centromere and one inactive centromere. A study of DNA replication with autoradiography and BrdU treatment revealed that the abnormal X was always the late replicating one. In a proportion of cells there was an asymmetric pattern of replication : the region with the inactive centromere had a tendency to replicate later than the portion with the functioning centromere. The Xg blood group segregation suggested that the attached X chromosomes were of paternal origin and therefore a true isodicentric formed after an isochromatid break followed by joining of the two sister chromatids.

Adolescent↗
PubMed1979

Ring chromosome 10 associated with multiple congenital malformations.

A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.

Abnormalities, Multiple↗
PubMed1979

Chromosome lesions in amniotic fluid cell cultures.

The frequencies of chromosome lesions were determined on 3537 mitoses in samples of varying sizes from cultures of 25 amniotic fluid specimens taken from patients at cytogenetic risk. The average percentage values of aberrant cells, including and excluding gaps, were 12.5 and 4.9, respectively. The corresponding values for fibroblasts and peripheral blood lymphocytes from normal adult donors, calculated under the same laboratory conditions, were 5.0 (including gaps) and 2.4 (excluding gaps) and 2.4 (including gaps) and 1.0 (excluding gaps), respectively. The hypothesis of a correlation between the increased incidence of chromosome lesions and the occurrence of abnormal karyotypes in amniotic fluid cell cultures is discussed.

Amniotic Fluid↗
PubMed1976

Detection of aneuploid cells in fibroblast cultures from the father of two trisomy 21 patients.

Karyotype analysis was performed on successive cultures of fibroblasts from the parents of two trisomic 21 patients. Starting from the 7th passage in the father cultures an aneuploid clone showing an extra E-like chromosome was found, which eventually overgrew the cell population. The significance of this cytogenetic finding is discussed in relation to the recurrence of the trisomy in the family.

Aneuploidy↗
PubMed1975

A family with three sibs carrying trisomy 21.

A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.

Age Factors↗