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Biomedical subjects

A Villegas

Publications and source records attributed to A Villegas.

At least 109 records · Page 6Linked to original sources
PubMed1990

[Chromosomal changes in 60 patients with acute myeloblastic leukemia. Frequency, characteristics and prognostic significance].

Sixty patients diagnosed of acute myeloblastic leukaemia (AML) on whom a chromosomal study was performed at diagnosis were evaluated. Their median age was 43 years (range: 8-89). Normal karyotype was present in 59% of the cases, it being abnormal in the remaining 41%. Chromosomal alterations appeared in 64% of the patients with M-4 morphology, in 43% of M-5, 40% of those with M-1, 33% of the M-2, and in 14% of the cases with M-3 morphology. The two patients with M-6 had abnormal karyotype. No correlations could be established between normal or abnormal karyotype and the clinical or laboratory data. Structural alterations were commonest amongst the patients with abnormal karyotype. Such alterations included t(8; 21), t(9; 22); t(7; 22), del 11q23, inv 16 (p13;q22), plus multiple major abnormalities in the M-6 patients. A strikingly low incidence of t(15; 17) was found in the acute promyelocytic leukaemia cases. Two chromosomal alterations not previously reported in AML were found in this series, namely, inv 13 (p11;q32) and t(21;1) (q22;q22). The finding of an abnormal karyotype had no unfavourable influence on the complete remission (CR) rate, which reached 65% of the patients with normal karyotype and 81% of those with abnormal karyotype. No differences were found in the duration of CR in this connection (80 and 77 weeks, respectively). Despite the lack of definite prognostic significance, the study of the karyotype appears as an important information in the diagnosis of AML.

Adult↗
PubMed1990

Alpha thalassaemia in two Spanish families.

Two Spanish families with alpha thalassaemia, including 4 individuals with Hb H disease, are described. DNA mapping shows that, in addition to the common alpha thalassaemia determinant (-alpha 3.7), a different and previously unreported allele is present in each family. In one, there is a deletion of 10.5-12 kb of DNA including both alpha genes (--SPAN). In the other, a deletion of more than 100 kb has removed the entire alpha globin gene complex (--BR).

Alleles↗
PubMed1989

[Remission induction treatment in adults with acute myeloid leukemia. 8-year experience with 2 successive protocols].

We report our eight year experience remission induction therapy in adult patients with acute myeloblastic leukemia. Overall 67 patients were treated, with a mean age of 43.3 years (range 15-75). Two treatment protocols were used. Complete remission (CR) was achieved in 23 patients of 39 receiving protocol A (58%). The 28 last patients were treated with the more aggressive protocol B, and CR was achieved in 23 patients (82%). CR was achieved in 68% of the overall group. The most outstanding predictive factors were age above 30 years, and M-5 morphology as indicating a poor prognosis.

Adolescent↗
PubMed1989

A new Spanish family with Hb Louisville.

The clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III-10 and III-11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined causes.

Adult↗
PubMed1988

Transcobalamin II deficiency: long-term follow-up of two cases.

Two Spanish siblings, a boy and girl, with transcobalamin II (TCII) deficiency are described. Both have grown and developed mentally normally after 10 years of vitamin B12 therapy. Two other siblings died soon after birth and it is almost certain that they also suffered from TCII deficiency.

Anemia, Megaloblastic↗
PubMed1987

Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya.

This study concerns the characterization of chromosomes with hybrid genes for Hb Lepore-Washington (44 chromosomes), for Hb Lepore-Baltimore (5 chromosomes), for Hb P-Nilotic (8 chromosomes), and for Hb Kenya (7 chromosomes) by determining a relatively large number of restriction enzyme polymorphism. Two, and possibly three, different Hb Lepore-Washington chromosomes were identified by specific haplotypes, while the haplotype of the Hb Lepore-Baltimore chromosome had its own characteristic pattern. A likely conclusion is that the crossovers leading to the formation of these chromosomes have occurred as independent events within the populations. Chromosomes with the delta beta-Lepore-Washington hybrid gene maintained specific characteristics (such as increased Hb F levels in heterozygotes, and high or low G gamma values in this Hb F) which have been observed in normal individuals with chromosomes having comparable haplotypes. Only one haplotype was observed for each of the chromosomes carrying either the beta delta-P-Nilotic hybrid gene or the A gamma beta hybrid gene of Hb Kenya.

Chromosome Mapping↗
PubMed1987

A new family with hereditary choreo-acanthocytosis.

We describe a new family with hereditary choreo-acanthocytosis. Two members of this family were affected; neither of them suffered from anaemia or signs of haemolysis. The acanthocytes showed an impaired deformability with an increase in whole blood viscosity. The composition of the plasma and erythrocyte membrane lipids was normal, as was the fatty acid composition of the erythrocyte ghost membranes. The only alteration found was a decrease in the fluidity of the erythrocytic membrane.

Acanthocytes↗