PubMed Health⌕ Search

Biomedical subjects

M D Coll

Publications and source records attributed to M D Coll.

31 records · Page 2Linked to original sources

New chromosomal abnormality. t(1;19;?) in a case of B-chronic lymphocytic leukemia.

Cytogenetic analysis was performed on peripheral blood cells stimulated with interleukin 6 (IL-6), lipopolysaccharide from Escherichia coli (LPS), phytohemagglutinin (PHA), pokeweed mitogen (PWM) and tetradecanoyl-phorbol-acetate (TPA), in a patient with B-chronic lymphocytic leukemia, showing a t(1;19;?) translocation as the sole abnormality. To our knowledge, this translocation has not been described before in any human neoplasia. In this case, the poor response to therapy (survival time 4 months) suggested that t(1;19;?) could be related to an aggressive course of the disease.

Aged↗

Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes.

Cytogenetic studies were performed in 112 untreated cases of myelodysplastic syndrome (MDS) between 1985 and 1990. Among 112 patients who were examined at the time of diagnosis, 54 had an abnormal karyotype (48%). The highest frequency of chromosome abnormalities was observed in refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-t) and the lowest in refractory anemia with ring sideroblasts (RARS) and chronic myelomonocytic leukemia (CMMoL). Numerical changes were observed in 19 cases and structural in 17; chromosome 8 was most frequently gained (11 cases), whereas chromosome 7 was most frequently lost (6 cases), 5q- in 14 (4 as a sole anomaly); involvement of 7q22 was seen in 3 cases, 11p in 2 patients, 11q in 3 (one patient as a sole anomaly), 12p in 4 (2 patients as a sole anomaly), i(17q) in 4 (3 patients as a sole anomaly), and complex chromosomal defects in 10 patients. If one takes into account the prognosis value, a complex karyotype and the presence of ring chromosomes were correlated with the worst prognosis, followed by -7/7q-; an intermediate prognosis corresponds to i(17q), 12p as a sole anomaly, +8 (as a sole anomaly or plus other anomalies), and involvement of 12p. Patients with a 5q- as a sole anomaly or with a normal karyotype, had the best prognosis.

Adolescent↗

Cytogenetic study of a patient with the Sézary syndrome.

A cytogenetic study was performed in a patient with Sézary syndrome, which is a T-helper lymphoproliferative disorder. Metaphases were obtained from a phytohemagglutinin-stimulated lymphocyte culture. Normal, hypodiploid (42 to 45 chromosomes) and hypotetraploid (84 to 88 chromosomes) cells were observed. Both abnormal cell lines showed the same abnormalities involving chromosomes 1, 2, 4, 6, 10, 11, 12, 14, 16, and 20.

Aged↗

Trivalent behavior during prophase I in male mice heterozygous for three Robertsonian translocations: an electron-microscopic study.

A synaptonemal complex (SC) analysis was carried out in male mice heterozygous (CHT/+) for three Robertsonian translocations. All pachytene preparations studied showed the presence of three trivalents. At early pachytene, the nonhomologous centromeric regions of the acrocentric chromosomes were unpaired. Heterosynapsis subsequently took place with complete pairing of the trivalents. Association between one of the three trivalents and the sex vesicle was observed in 30.4% of the nuclei. Association between the unpaired regions of two trivalents was present in 14.4% of the cells, suggesting that the relationship between unpaired regions of structural rearrangements and the X-Y bivalent may simply reflect the tendency of unpaired regions to establish end-to-end associations or heterosynapses among them, which are usually resolved during the pachytene stage of prophase I. Since the sex bivalent always has unpaired regions, these associations often affect the sex chromosomes.

Animals↗

[Septic arthritis in children].

A review was made of 15 cases of septic arthritis in children. 13 of these cases corresponded to purulent arthritis, one to tuberculous arthritis and one to brucellar arthritis. All of them received diagnostic punction. Five joints received arthrotomy, by a washed-aspiration system. The antibiotic treatment was given approximately during for six weeks. We had two complications, die to a delayed diagnosis: one coxa valga and one capital femoral necrosis. It is important the insist on a early diagnosis and decompressive arthrotomy, specially in those cases in which the hip is the joint affected.

Arthritis, Infectious↗

Histone electrophoretic pattern in the characterization of synaptonemal complexes.

The presence of a stoechiometric electrophoresis pattern of histones in carefully isolated synaptonemal complexes is reported. The use of this pattern is suggested as an internal standard of synaptonemal complex purification, in addition to the more generally used electron micrographs. This is especially useful in experiments leading to the characterization of the protein components of SCs. The use of mice of an age at which pachytenes predominate (90%) in the prophase-cell population is also advantageous to improve the final yield in synaptonemal complexes.

Animals↗

New data on the synaptic process of Mesocricetus auratus: connecting fibers, telomere association and heterosynapsis.

The progression of the prophase-I stage in Syrian hamster spermatocytes has been studied at different ages, from 12 to 41 days after birth. Two stages, leptotene and diplotene, were identified, which had not previously been described in the Syrian hamster using spreading techniques. The most interesting observations are the presence of heterosynapses and telomere associations in 2.5% of the cells studied, and of nucleolar filaments also in 2.5%. Connecting fibers are structures that establish different types of bridges between two or three synaptonemal complexes (SCs) or between the elements of a single SC. Heterosynapses and telomere associations consist in the partial pairing of the terminal regions of non-homologous lateral elements. These phenomena can be observed both in the autosomes and in the sex chromosomes.

Animals↗

Meiotic studies in human semen. Report of 180 cases.

Meiotic studies can be carried out in the spermatogenic cells present in ejaculate. Using this technique, we identified one man with a reciprocal translocation and six oligochiasmatic males among 180 patients studied. The technique is easy and reliable; good-quality figures can be obtained, and meiotic studies can be carried out as often as needed.

Biopsy↗