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Biomedical subjects

M Deminatti

Publications and source records attributed to M Deminatti.

At least 37 records · Page 2Linked to original sources
PubMed1987

[(9;11) (p21;q23) translocation: apropos of 2 new cases seen in acute undifferentiated monoblastic AML5a leukemia].

In a cytogenetic study of 54 patients with acute monoblastic leukaemias (AML5) two had a (9;11) (p21;q23) translocation. In addition to the clone, with t(9;11), both patients had a second clone with t(9;11) and trisomy 8. These two patients were aged 23 and 35 years at diagnosis and were classified as M5a in the FAB formulation. A complete remission was achieved in each case, persisting after 19 and 18 months respectively (autograft for one patient). Whereas chromosome 11 anomalies are involved in 13% of all AML5 cases, t(9;11) is less frequently encountered (3.7% in our experience).

Adult↗
PubMed1986

[The metaphase chromosome: functional inertia and ability related to the presence of sequences of single-stranded DNA].

Isolated metaphase chromosomes from KB cells were used as template in an in vitro DNA synthesis assay. In these conditions, no synthesis was noticed, confirming template inactivity of isolated metaphase chromosomes. DNA synthesis was noticed after a pretreatment with either methanol-acetic acid or RNase A. Analysis of in vitro synthesized polydeoxyribonucleotides showed two fractions of 4 S and 7-8 S. These results suggest the presence in metaphase chromosome of single stranded DNA sequences. Such sequences are shown in DNA extracted from chromosomes. They would preexist in this organelle and would be unmasked by the treatments that restore template activity of metaphase chromosome.

Base Sequence↗
PubMed1983

[Transient leukoblastosis and dysmegakariocytopoiesis with clone 46, XX+21, t(5;7), in a newborn infant with trisomy 21].

A case of transient leukemoid reaction in a child with Down's syndrome with the presence of leukoblasts in the blood at birth is reported. The karyotype established on culture of lymphocytes and fibroblasts was characterized by a chromosomic formula 47, XX,21+. The karyotype established on day 13 of life on cultured bone marrow showed a trisomic 21 abnormal clone with 46 chromosomes resulting from a translocation of the long arms of chromosomes 5 and 7, which gave the chromosomic formula: 46, XX, -5, -7,t (5 qter leads to cen leads to 7 qter), +21. This clone was present in spontaneous blood mitoses. It disappeared on day 75 of life as well as the abnormal leukoblasts. The peculiarity of this case in due to the presence of an aneuploid clone and the association of a leukemoid reaction and dysmegakaryocytopoiesis both of which were transient.

Chromosome Aberrations↗
PubMed1983

[Burkitt's acute lymphoblastic leukemia. Incidence and cytogenetic aspects].

We report 4 cases of patients, 5, 16, 31 and 55 years old respectively, with Burkitt type ALL. Three of them presented with a hypoaesthesia of the chin tip. The cytological features of abnormal cells were those of L3 subgroup in the FAB classification; they expressed surface immunoglobulin markers. EBV serology was positive in two cases but the titres did not indicate a recent infection. The translocation t(8;14) (q24;q32) was found in all 4 patients. In one case, it was possible to characterize a clone with a 7 neochromosome (7p+) and a clone with a supernumerary 7 isochromosome i(7q)+; in other respects these two clones showed the translocation t(8;14) and only the latter remained in the terminal phase. In these 4 patients the disease progressed dramatically even when haematological remission was obtained (two cases), predominantly due to early neuro-meningeal involvement.

Adolescent↗
PubMed1983

[Subacute pre-eclampsia and hydramnios as manifestation of fetal triploidy. In utero diagnosis in the 28th week].

The authors report a case of triploidy that was diagnosed in utero by amniocentesis at the 28th week of amenorrhoea which presented with a classical picture of sub-acute hydramnios and pre-eclampsia and a dermoid cyst in the pelvis below the uterus. This case has given us a chance of showing the clinical evolution that led us to carry out amniocentesis and make the diagnosis of triploidy. A review of the literature gives us the chance of showing the incidence of triploidy and its genetic origin and the characteristics that this chromosome abnormality produces. The value of the study is to show the differences that exist between this condition and partial molar triploidy demonstrating the anatomo-pathological, genetic and developmental changes that can be recognized. The conclusion that this article reaches could be that the term "triploid embryonic mole" should be abandoned because it brings under one heading two quite different pictures.

Amniocentesis↗
PubMed1983

[Karyotype of peripheral blood lymphocytes in patients treated for Hodgkin disease].

Peripheral lymphocyte chromosomes were analyzed in 55 consecutive patients with complete remission after treatment for Hodgkin's disease. In 8 patients, observed metaphases were too few in number. The other 47 patients, 29 men and 18 women, had been off all therapy for 53 months (median 41, ext. 1 to 250 months). The mean interval since the diagnosis was 78 months (median: 73 months) and the mean age at the time of chromosome analysis was 38 years (median: 34, ext. 10-78 years). No patient had either a preleukemic syndrome or leukemia. In contrast to karyotypes in normal controls and previously untreated patients, abnormal cells, hypodiploid, hyperdiploid and tetradiploid cells were more frequent. But neither monosomy 5 or 7 nor trisomy 8 were observed. Intrachromosomal rearrangements (gaps, breaks...) were significantly more frequent (12% vs 5% in untreated patients) particularly on chromosomes 1 and 2. Interchromosomal rearrangements were also numerous (1,25%) but no cells showed any specific translocation for malignant hemopathy. Chromosomal aberrations do not seem closely associated with treatments but influenced by the post-diagnosis interval and the factors present at the time of primary treatment.

Adolescent↗
PubMed1978

Chromosome studies in human lymphocytes after in vitro exposure to metal salts.

The toxic concentration of different heavy metal salts was determined in normal stimulated human lymphocyte cultures and was found to be 3 X 10(-3), 1 X 10(-2) and 5 X 10(-4) for zinc chloride, lead acetate and cadmium chloride respectively. Furthermore 3 subtoxic doses of each salt (2, 10 and 100 times less than the toxic dose) were added to 48- and 72-h cultures at 0 h and 24 h after initiation. Chromosome preparations were made and 100 well spread metaphases from each culture were analysed for the presence of numerical and structural aberrations. The most common aberration found for all tested metal salts was the occurrence of chromosome fragments. Dicentric chromosomes were only recorded in lymphocyte cultures treated with the lowest concentration of zinc chloride (3 X 10(-5) M) added at time 0, regardless whether the cultures were fixed after 48 or 72 h.

Cadmium↗
PubMed1977

[Study of acid soluble proteins of metaphase chromosomes isolated from KB cells before and after 5-BrdU incorporation].

Metaphase chromosomes and interphase nuclei have been isolated by two different procedures, using either acidic or alkaline media. The morphological integrity of the isolated material has been monitored by electron microscopy. In the acidic procedure the thickness of the chromosome fibers is reduced but the chromosome gross structure is preserved. However, electrophoretic analysis indicates complete disappearance of histones H1 and partial loss of H2A and H2B. No significant modification of acid-soluble proteins isolated from chromosomes or nuclei was observed after 5-BrdU incorporation for 72 hours.

Bromodeoxyuridine↗
PubMed1977

[H1 histone - giemsa competition and chromosome labeling].

The deposit of histone H1 on metaphasic chromosomes in situ or isolated for KB cells shows that there is a H1-Giemsa competition at the same sites of fixation. Different banding techniques show that histone H1 gets fixed uniformly along the chromosomes.

Azure Stains↗