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Biomedical subjects

E Flori

Publications and source records attributed to E Flori.

29 records · Page 2Linked to original sources
PubMed1982

[In vitro transformation of human amniotic fluid cells in the presence of fecalase. Method for detecting environmental chemicals with oncogenic potential].

A short-term method for detecting potential environmental carcinogens is described using in vitro transformation assay of human epithelial-like amniotic fluid cells. According to Styles, after a short exposition to the carcinogen, only transformed cells grow and form large colonies when cultured in semi-solid agar. In our assay addition of liver homogenate was not necessary to activate the carcinogens. Nevertheless adjunction to the exposure medium of human fecalase (after Ames) is advised for studying carcinogenicity of food glycosides. Fecalase efficiency in metabolic activation of glycosidic compounds has been demonstrated in the use of 8-hydroxyquinoline-beta-D-glycopyranoside.

Adult↗
PubMed1979

Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.

By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

Abdominal Neoplasms↗
PubMed1979

Abnormal children of a 47,XYY father.

Abnormal children of two 47,XYY men were studied. One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. The other man had 2 normal sons and a child with Down's syndrome. The extra chromosome 21 of this child came from the mother. Another 47,XYY man had 4 normal children.

Adult↗
PubMed1978

Chromosome analysis of spleen and/or lymph nodes of patients with chronic myeloid leukemia (CML).

Origin and spread of the chromosomally abnormal cells that appear in chronic myeloid leukemia (CML) after transformation are unknown. Spleen and lymph node may be involved. In 16 patients with CML splenectomy and/or adenectomy were performed before or during the blastic crisis of the disease, followed by a chromosomal analysis of the cells from the removed organ. At the same time, the chromosomes of the blood cell and of the bone marrow were also analyzed. Analyses were done with R banding. The results show that an extramedullary clonal development with duplication of the Ph1 chromosome and other features occurred. From a cytogenetic standpoint, acute blastic phase of CML is frequently characterized by an increased number of chromosomes owing to preferential gain of additional chromosomes. This, then, would clearly point to extamedullary acute transition in CML.

Bone Marrow↗
PubMed1978

[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

Studies of a child with hyperammonemia have demonstrated a deficiency in OCTase. The kinetic properties of the enzyme were studied and it could be shown that we have to deal with a new mutation which is different from the ones previously known. It is a mutation of the structural gene. The detection of a heterozygote is possible when the urinary orotic acid excretion is studied after a loading meal (2g of proteines per kilo of weight). A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described. A new structural gene mutation is probable because the kinetic properties of the enzyme are different to previously described variants. The heterozygote could be detected by the measurement of the excretion of orotic acid in the urine following a protein load of 2 g/Kg.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Direct fetal chromosome studies from chorionic villi.

An easy and reproducible technique for direct fetal chromosome analysis after chorionic biopsy is described. Very high colchicine concentration and rehydratation of the fixed villi are the two original points of this method.

Biopsy↗