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Biomedical subjects

C San Román

Publications and source records attributed to C San Román.

At least 19 recordsLinked to original sources
PubMed1999

[The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis].

BACKGROUND: Hemochromatosis is a hereditary disease the diagnosis and early therapy of which is particularly relevant to prevent the appearance of complications. In 1996, the gene responsible for this condition was identified and was named HFE. OBJECTIVE: To determine the prevalence of Cys282Tyr (C282Y) and His63Asp (H63D) mutations in the HFE gene in a group of patients with the confirmed diagnosis of hereditary hemochromatosis, as well as in a control group of 174 healthy individuals. MATERIALS AND METHODS: Twenty-two patients with the diagnosis of primary hemochromatosis who were on treatment with periodic phlebotomies were studied. All patients had the following parameters measured: serum iron, ferritin, transferrin saturation, serology for hepatitis viruses B and C, liver function tests, abdominal echography and liver biopsy. A control group of 174 healthy individuals, who had their serotype analyzed, was also studied. RESULTS: Eighteen (81.8%) of patients with hemochromatosis were homozygous for the C282Y mutation. One patient was homozygous for the H63D mutation and in other patient no mutation was found. Among individuals in the control group, the allelic frequency of the C282Y mutation was 2.3%, whereas the allelic frequency of the H63D mutation was 19.8%. CONCLUSIONS: The results obtained in our study support the evident association between the C282Y mutation in the HFE gene and hereditary hemochromatosis in our environment.

Alleles↗
PubMed1998

Occurrence of BCR-ABL rearrangement in a Philadelphia chromosome-negative patient with 5q and 13q deletions and myeloproliferative syndrome.

We report the case of a patient with a myeloproliferative syndrome and traits of myelodysplasia and myelofibrosis whose karyotype showed 5q and 13q deletions, as well as Philadelphia chromosome negativity. A molecular biology study performed by Southern blot, with a probe covering the M-bcr region, led to detection of three bands other than the germinal ones, which hints at the possible existence of two cut points in the M-bcr region of an allele, or participation of both alleles. The patient presented a complex hematological picture, which might be explained on the basis of the cytogenetic and molecular findings.

Blotting, Southern↗
PubMed1996

Cytogenetic study of neuroendocrine carcinoma of Merkel cells.

We describe the cytogenetic study of a neuroendocrine tumor of Merkel cells which appeared in a patient following a heart transplant. An abnormal karyotype was observed in a metastatic lymph node. The abnormality includes two markers derived from the long arm of chromosome 1, while maintaining two normal chromosomes 1.

Aneuploidy↗
PubMed1995

Interstitial del(12)(q15q22) in myelodysplastic syndromes.

A patient with a myelodysplastic syndrome and a 12q deletion was studied and followed-up. After 10 years and several cytogenetic studies, it is suggested that this abnormality can be the sole chromosomal change in myelodysplastic syndromes.

Anemia, Refractory, with Excess of Blasts↗
PubMed1994

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.

Aged↗
PubMed1994

The prevalence of multiple sclerosis in the Sanitary District of Vélez-Málaga, southern Spain.

Since little is known about the prevalence of multiple sclerosis (MS) in Spain, we undertook an epidemiologic study to ascertain the prevalence of MS in the Sanitary District of Vélez-Málaga, close to the city of Málaga, in southern Spain. The crude prevalence rate of MS in Vélez-Málaga was 53 per 100,000, twice as high as the prevalence previously reported in both the city and province of Málaga. The MS prevalence in the Sanitary District of Vélez-Málaga is similar to that in Sicily and in Cyprus.

Adult↗
PubMed1993

[The usefulness of the bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia].

BACKGROUND: The rearrangement of the bcr/abl gene constitutes the molecular substrate of the Philadelphia chromosome (Ph'). The aim of this study was to analyze the usefulness of bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia (CML). METHODS: The rearrangement of the bcr/abl gene was studied in 81 cases of which 34 corresponded to patients with CML (29 Ph' positive chromosome, 2 Ph' negative chromosome and 3 without karyotype), 2 patients with Ph' positive acute lymphoblastic leukemia, 15 patients with chronic myeloproliferative syndromes different from CML and 30 controls. Of the patients with CML, 6 were reevaluated when a blastic crisis was developed, 2 after receiving interferon treatment and 1 following allogeneic bone marrow transplantation. The technique used was that of Southern blotting using the restriction enzymes Bgl II and BamHI and the transprobe. RESULTS: Rearrangement of the bcr/abl gene was observed in all the patients with CML except in one with Ph' negative chromosome. In the remaining cases bcr/abl rearrangement was not observed. CONCLUSIONS: The Southern blotting technique for the study of the bcr/abl gene rearrangement is a sensitive and specific method in the diagnosis of chronic myeloid leukemia constituting a valid alternative to chromosomic study when this cannot be carried out or is not conclusive. It may also be used for the control of treatment in chronic myeloid leukemia.

Adult↗
PubMed1992

Ph-positive chronic myeloid leukemia with t(8;21)(q22;q22) in blastic crisis.

A patient diagnosed with chronic myeloid leukemia was studied periodically during his illness. The result showed the presence of a Philadelphia (Ph) chromosome by a 9;22 translocation as a single abnormality to the time of blastic crisis. At that time, the chromosome studies showed a clonal evolution. Furthermore, a second derivated line was added to the Ph line. This new anomaly consisted of a 8;21 translocation, considered as specific of M2 type acute nonlymphoblastic leukemia of French-American-British classification.

Adult↗
PubMed1992

[Use of a chromosome 21 gene library in the identification of a marker chromosome in chronic myeloid leukemia].

The non-isotopic in situ hybridization makes it possible the analysis of, both, numeric and structural chromosome aberrations in interphase nuclei. Moreover, this technique is useful for identification of chromosome markers of unknown origin, frequently present in malignant diseases. In our case, the fluorescent in situ hybridization allowed us, in a CML patient in accelerated phase, to know the origin of a chromosome marker, and then, to state that the patient had a 21 trisomy added to the Philadelphia chromosome.

Blast Crisis↗