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J L Vives-Corrons

Publications and source records attributed to J L Vives-Corrons.

At least 19 recordsLinked to original sources
PubMed2000

Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca.

BACKGROUND AND OBJECTIVE: A partial red blood cell (RBC) pyruvate-kinase (PK-R) deficiency was found in a patient with concomitant hereditary spherocytosis (HS) and chronic hemolytic anemia. Clinical, biological and molecular studies were performed in the patient, his parents and a brother, in order to characterize the specific PK-R gene mutation and the inheritance mechanism of the transmission of both red cell defects in this particular family. DESIGN AND METHODS: Conventional biological studies were used to identify the PK-LR gene mutation responsible for hereditary transmission of PK-R deficiency and HS. The family study was completed with genotypic and RBC membrane protein analyses in the patient and his family. RESULTS: Molecular study of the PK deficiency was performed in all the family members and demonstrated a heterozygous condition for the 1516 G->A (506Val->Ile) mutation at the PK-LR gene in both the patient and his mother. Since this mutation has not been reported previously, it is provisionally named PK "Mallorca". The study of RBC membrane proteins demonstrated the existence of partial band 3 and protein 4.2 deficiencies in the propositus and his father but not in the mother and brother, who were also studied. These results support the dominant mode of inheritance of HS and PK-LR gene in this family. INTERPRETATION AND CONCLUSIONS: HS and PK deficiency are not exceptional in Spain. The co-existence of both RBC defects in the same patient, however, is very rare; only a few cases have been described to date. Our findings suggest that performing an elementary RBC enzyme survey in all patients with HS would help to determine the real frequency of this apparently rare association.

Amino Acid Substitution↗
PubMed1997

[Hemopoietic progenitor cell transplantation: 20 years' experience at the Hematology School "Farreras-Valentí"/Clinical Hospital of Barcelona].

BACKGROUND: Hemopoietic progenitor cell transplantation (HPCT) is acquiring an increasing role in the therapy for a variety of disorders. In this study, main characteristics and results of HPCT along 20 years are analyzed from the experience of Postgraduate School of Hematology "Farreras-Valentí" at the Hospital Clínic in Barcelona. PATIENTS AND METHODS: Six-hundred ninety-five patients transplanted between June 1976 and January 1996 were analyzed. Median age (range) were 33 (4-63) years. The following aspects were considered: donor type, source or progenitor cells, type of disease and disease-stage at transplantation, transplant related mortality and survival. RESULTS: A total of 714 HPCT were performed (448 allogeneic, 13 isogeneic, 253 autogeneic). Allogeneic HPCT were from an HLA-identical sibling in 408 cases, from other familial donors in 10, and from non-familial donors in 30. Most HPCT from non-familial donors (93%) were performed during the last five years of the study (1991-1995). The source of hemopoietic progenitor cells was bone marrow in 625 instances (88%), peripheral blood in 88 (12%), and fetal liver in one. During more than 15 years, the only source of progenitors was the bone marrow; in contrast, in the last 3 years (1993-1995) transplants using peripheral blood were predominant. Main indications for HPCT were the following: acute leukemias (n = 387) (54%), chronic leukemias (n = 134) (19%), severe aplastic anemia (n = 58) (8%), lymphomas (n = 80) (11%), multiple myeloma (n = 39) (5%) and myelodysplastic syndromes (n = 14) (2%). In patients with hematological malignancies (n = 656), HPCT was performed in first complete remission or in first chronic phase in 321 instances (49%), in subsequent remissions in 144 (22%), and in more advanced stages in the remaining 191 (29%). In the more recent years, a progressive decrease in the number of HPCT for acute leukemia or aplastic anemia was observed, contrasting with an increase in transplants for lymphoma, multiple myeloma and myelodysplastic syndromes. Of note, a significant decrease in transplant related mortality was evident along the years, both after autogeneic HPCT (21% during 1985-1992 and 6% thereafter) (p = 0.001) and after allogeneic transplantation (54%, 44%, and 20% during the periods 1976-1984, 1985-1992 and 1993-1995, respectively) (p = 0.004). The fact translated into an increase in the actuarial probability of survival after allogeneic HPCT (25%, 33% and 58% in the three mentioned periods, respectively) (p = 0.0003), and after autogeneic HPCT (33% in the interim 1985-1992, and 55% in the period 1993-1995) (p = 0.001). CONCLUSIONS: During the last 20 years, HPCT has significantly evolved in aspects such as type of donor, source of progenitor cells and indications. Remarkably, a progressive decrease in transplant related mortality has been observed translating into a improvement in survival after the procedure.

Actuarial Analysis↗
PubMed1996

Characterization and purification of a protein kinase C substrate in human B cells. Identification as lymphocyte-specific protein 1 (LSP1).

Incubation of B-chronic lymphocytic leukemia (B-CLL) cells with phorbol esters resulted in the phosphorylation of two major PKC substrates, MARCKS (myristoylated, alanine-rich C kinase substrate) and MRP (MARCKS-related protein), and of a third protein, with an apparent m.w. of 60,000 that was the most prominent protein kinase C substrate in these cells. p60 phosphorylation was time and PMA dose dependent, and was induced by cell-permeable diacylglycerol, but not by inactive phorbol esters. Two-dimensional electrophoretic analysis of the protein phosphorylation pattern from the B cell line CESS demonstrated the identity between the p60 protein expressed in this cell line and that expressed in B-CLL cells. p60 was purified from CESS cells and peptide microsequencing of this protein revealed that it was lymphocyte-specific protein 1 (LSP1), that is here characterized as the most prominent protein kinase C substrate in B cells.

Actins↗
PubMed1996

Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.

Several different deletions underlie the molecular basis of alpha-thalassemia. The most common alpha-thalassemia determinant in Spain is the rightward deletion (-alpha 3.7). To our knowledge, however, no cases of alpha-thalassemia due to nondeletional mutations have so far been described in this particular Mediterranean area. Here, we report the existence of nondeletional forms of alpha-thalassemia in ten Spanish families. The alpha 2-globin gene was characterized in ten unrelated patients and their relatives only when the presence of deletional alpha-thalassemia was ruled out. The alpha 2-globin gene analysis was performed using the polymerase chain reaction (PCR) followed by restriction enzyme analysis or by allelespecific priming. This allowed the identification of a 5-base pair (bp) deletion at the donor site of IVS I (alpha Hph alpha) in 9 cases and the alpha 2 initiation codon mutation (alpha Nco alpha) in one case. Although these alpha 2-globin gene mutations are found in other mediterranean areas, our results demonstrate their presence in the Spanish population and suggest that the alpha Hph alpha/alpha alpha genotype is probably the most common nondeletional form of alpha-thalassemia in Spain.

Adolescent↗
PubMed1996

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.

The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations. In the four polymorphic variants that have two point mutations, one of the mutations is always 376 A-->G (126 Asn-->Asp), which on its own gives rise to the nondeficient polymorphic variant, G6PD A. In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant, G6PD Santamaria. G6PD Malaga is associated with enzyme deficiency (class III), and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar, indicating that in this case the effects of the two mutations are additive rather than synergistic. G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga; however haplotype analysis, including the use of a new silent polymorphism, suggests that the same 542 A-->T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria. These findings help to outline the relationship and evolution of mutations in the human G6PD locus.

Amino Acid Sequence↗
PubMed1996

Bone marrow assessment in B-cell chronic lymphocytic leukaemia: aspirate or biopsy? A comparative study in 258 patients.

To evaluate the relative merits and prognostic value of bone marrow aspirate and bone marrow biopsy in the assessment of bone marrow infiltration in B-cell chronic lymphocytic leukaemia (CLL), two observers independently reviewed the percentage of lymphocytes in bone marrow aspirate (lymphocytic infiltration, LI) and the bone marrow histological pattern (BMP) in 258 patients. The inter-observer reproducibility and agreement was higher for BMP than for LI. BMP was an independent prognostic factor for survival in the whole series, whereas LI only had independent predictive value in stage A patients. In the entire series, disease progression was predicted by either BMP and LI, whereas in stage A patients only by BMP. Regarding low-risk CLL (smouldering CLL or A"1 substage), BMP led to a more reproducible identification of these clinical forms than LI. In conclusion, although both BMP and LI are of value to estimate bone marrow infiltration in CLL and to predict the outcome of the disease, BMP is more reliable and reproducible than LI.

Aged↗
PubMed1996

Interference of blood leucocytes in the measurements of immature red cells (reticulocytes) by two different (semi-) automated flow-cytometry technologies.

Flow cytometrical methods have been introduced recently as an alternative to the enumeration of reticulocytes by microscopy. Two of these methods have gained widespread use in haematological practice; the multiparametric flow cytometer using thiazole orange staining (Retic-Count, FACScan) and the single-application reticulocyte counter using auramine-O staining (R-series, Sysmex). Several studies have emphasized the excellent correlations between microscopy and these techniques. The purpose of our study has been to examine the specificity of these automated devices with regard to cells classified as 'reticulocytes' and the effect that this may have on measures of reticulocyte maturity. Our results indicate that the specificity of reticulocyte measurements by both the Sysmex R-1000/-3000 and the Retic-Count system is relatively low. This is due to the presence of leucocytes amongst cells classified as reticulocytes. These leucocytes display intense staining with either dye, leading to an erroneous estimation of RMI (thiazole orange) and high fluorescence count (R-1000/-3000). This error is directly correlated with the leucocyte count. The basis for reticulocyte identification should be improved before automated estimation of reticulocyte maturation can be used in clinical practice.

Automation↗
PubMed1996

Evaluation of the Abbott Cell-DYN 3500 hematology analyzer in university hospital.

The Abbott (R) Cell-Dyn 3500 (Abbott CD 3500, Abbott Diagnostics Division, Mountain View, CA) is a fully automated hematology analyzer capable of providing a complete blood count (CBC) profile, including a five-part differential leukocyte count (DLC) and flagging system in this study. The CBC profile and DLC flagging system of the Abbott CD 3500 were evaluated according to the HA-20 protocol of the National Committee for Clinical and Laboratory Standards (NCCLS) and compared to the Technicon H*2 blood analyzer currently used in the authors' laboratory. Linearity, carryover, precision, and stability were all within the limits established by the manufacturer. No significant break-downs were found during the evaluation period. Evaluation of DLC indicated an excellent correlation with the manual reference method for neutrophils, lymphocytes, and eosinophils (r = 0.916, 0.936, 0.967, respectively), a good correlation for monocytes (r = 0.811) and a poor correlation for basophils (r = 0.224). Overall flagging for morphologic abnormalities displayed higher sensitivity (85%) than specificity (67%), with a false-positive ratio of 33%. In general, these results are in accordance with those obtained by other authors in the same period of time.

Academic Medical Centers↗
PubMed1996

Detection of circulating neoplastic cells by reverse-transcriptase polymerase chain reaction in malignant melanoma: association with clinical stage and prognosis.

PURPOSE: Circulating melanoma cells can be detected in peripheral blood by means of tyrosinase mRNA amplification by reverse-transcriptase polymerase chain reaction (RT-PCR). We conducted a prospective study to evaluate the clinical significance of the presence of circulating neoplastic cells in the blood of patients with malignant melanoma (MM). METHODS: A sensitive RT-PCR assay was used to detect tyrosinase mRNA in the peripheral blood of patients with stages I to IV melanoma. Healthy subjects or patients with other malignancies were used as negative controls. RESULTS: Ninety-one assessable patients were included in the study. There was a statistically significant association between RT-PCR positivity and clinical stage. Circulating melanoma cells were detected in 36% of patients with localized disease (stages I and II), in 45% of patients with regional nodal involvement (stage III), and in 94% of patients with metastatic disease (stage IV) (P < .001). In stage II-III patients who were RT-PCR-positive for mRNA tyrosinase in blood, the recurrence rate and disease-free survival were significantly worse than patients who were RT-PCR-negative. In multivariate analysis, RT-PCR was an independent prognostic factor for recurrence in patients with nonmetastatic disease (P = .002). CONCLUSION: The detection of circulating melanoma cells in peripheral blood by RT-PCR correlated with the clinical stage of patients with melanoma and was an independent prognostic factor for recurrence. Further studies are warranted to better assess the significance of this test in the evaluation of prognosis, early detection of relapse, and in monitoring the effectiveness of systemic therapy.

Adult↗
PubMed1996

Chronic myeloid leukemia of thrombocythemic onset: a CML subtype with distinct hematological and molecular features?

Among 84 consecutive patients with chronic phase Ph-positive chronic myeloid leukemia (CML) who were investigated for the hybrid BCR/ABL mRNA, in six cases (7%) the disease mimicked essential thrombocythemia (ET) at presentation, because of marked thrombocytosis (platelet counts ranging from 1003 x 10(9)/l to 2800 x 10(9)/l) and moderate leukocytosis (WBC counts from 10 x 10(9)/l to 19 x 10(9)/l). At initial examination, four of the six patients showed a few (4-9%) immature myeloid cells in the peripheral blood, and two had blood basophilia. All six patients later developed increasing leukocytosis, and two subsequently died from blast crisis and accelerated CML, respectively. In the overall series, 38 patients (45%) expressed the b2a2 type of BCR/ABL mRNA, and 46 (55%) either the b3a2 or both mRNAs. By contrast, only one of the six patients with CML of thrombocythemic onset expressed the b2a2 mRNA vs five with either b3a2 (n = 4) or both mRNA types (n = 1). The above results, in conjunction with similar data from a few previously published cases, suggest an association between the above form of CML and b3a2 type of BCR/ABL transcript.

Adolescent↗
PubMed1995

P53 tumor suppressor gene in chronic myelogenous leukemia: a sequential study.

Loss of the p53 gene alleles was investigated in 26 patients with Ph+, BCR/ABL+ chronic myeloid leukemia (CML) by means of the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis using the restriction enzyme AccII. In all cases, peripheral blood and/or bone marrow samples were obtained at different times during the chronic phase of the disease and at blast crisis, and in some of them also at the accelerated phase. Of the 12 cases considered informative, 11 evolved into myeloid type blast crisis and one into a lymphoid blast crisis, whereas only two showed an i(17q) chromosome at cytogenetic study. In four of the 12 informative cases, a loss of one p53 gene allele was observed, in all cases coincident with the development of the accelerated phase or blast crisis. One patient with a deleted p53 gene allele, in whom it was possible to analyze the gene structure in the three CML evolutive phases (chronic and accelerated phases and blast crisis), showed loss of the p53 gene allele in both the accelerated and the blastic phase, but not during the chronic phase. On the other hand, one of the two cases with an i(17q) chromosome exhibited one allelic deletion of the p53 gene. Thus, the relatively frequent monoallelic deletion of the p53 gene coincident with the appearance of the blast crisis registered in the present study would support a possible role of the p53 gene alterations in the evolution of CML to its final stages.

Adult↗
PubMed1995

Surface adenosine deaminase. A novel B-cell marker in chronic lymphocytic leukemia.

Previous studies found that ADA is present on the surface of mononuclear blood cells from healthy patients. Because the expression of this surface antigen depends upon the cell type, the presence of ADA on the plasma membrane of cells from patients with malignant hematologic diseases was studied by flow cytometry. The highest percentage of expression was found in CLL, whereas the lowest was found in T-cell-derived malignancies. The enzyme expression in immortalized cell lines showed a similar pattern, with the highest expression (95% +/- 5%) in the SKW64 B-derived cell line, the lowest (15% +/- 5%) in Jurkat T-lymphoma derived cells, and the intermediate (32% +/- 8%) in K562 cells derived from a chronic myelogenous leukemia. Double labeling ADA/CD5 and ADA/CD19, as well as the correlation of ADA expression with the expression of other surface markers, indicate that surface ADA might be considered a novel marker for CLL.

Adenosine Deaminase↗
PubMed1995

In vitro release of arachidonic acid metabolites, glutathione peroxidase, and oxygen-free radicals from platelets of asthmatic patients with and without aspirin intolerance.

BACKGROUND: An abnormal platelet release of oxygen-free radicals has been described in acetylsalicylic acid (aspirin)-induced asthma, a finding which might suggest the existence of an intrinsic, specific platelet abnormality of arachidonic acid metabolism in these patients. The objective of this study was to evaluate platelet arachidonic acid metabolism in asthmatic patients with or without intolerance to aspirin. METHODS: Thirty subjects distributed into three groups were studied: group 1, 10 healthy subjects; group 2, 10 asthmatic patients with aspirin tolerance; and group 3, 10 aspirin-intolerant asthmatics. Platelets were isolated from blood, preincubated with 3H-arachidonic acid for 30 minutes and then incubated for 10 minutes with platelet activating factor (PAF) and aspirin. Cyclo-oxygenase (thromboxane, PGE2, PGF2 alpha, and HHT) and lipoxygenase (12-HETE) arachidonic acid metabolites were measured by high pressure liquid chromatography. Release of oxygen free radicals after incubation with PAF and aspirin was measured by chemiluminescence. Platelet levels of glutathione peroxidase (GSH-Px) were also measured using spectrophotometry. RESULTS: Platelets from aspirin-intolerant asthmatic patients produced higher quantities of arachidonic acid metabolites than the control group at baseline conditions. This increase was significant only for lipoxygenase products. No differences were found amongst the three groups in the response of arachidonic acid metabolism to PAF and aspirin. Incubation with aspirin but not with PAF caused an increase in oxygen-free radical production in aspirin-intolerant patients whereas in aspirin-tolerant patients PAF, rather than aspirin, was the more potent stimulus for oxygen-free radical production. No differences in GSH-Px levels were found amongst the three groups. CONCLUSIONS: These results suggest that the platelet lipoxygenase pathway is activated in aspirin-intolerant patients and that the production of oxygen-free radicals may differentiate aspirin-tolerant from aspirin-intolerant asthmatic subjects. Our study, however, does not support the hypothesis that an increase in lipoxygenase products may be responsible for oxygen-free radical production. Moreover, a lowered platelet GSH-Px activity does not seem to be involved in this phenomenon.

Adult↗
PubMed1995

Characteristics and performance of the external quality assessment scheme (EQAS) for haematology in Spain. Ten years of experience.

The external quality assessment scheme for haematology (EQAS-H) in Spain started in 1984 with 56 laboratories, being 473 in 1994. Participants come from public health services (70%) and from private laboratories (30%). Surveys are performed monthly or quarterly depending on the tests and on each occasion the following samples are prepared and sent by the professional organizing team: human (HIV/HBsAg free) or equine whole blood for cell counts (erythrocytes and leucocyte), platelet suspensions for platelet counts, lyophilized plasmas for prothrombin time (PT), partial thromboplastin time (APTT), fibrinogen (F) and antithrombin III (ATIII), and blood films for cell morphology and reticulocyte counts. In 1992 a new scheme on oral anticoagulant treatment control (OATC) has been established jointly by the Spanish Haematology Association (AEHH) and the Spanish Society of Thrombosis and Haemostasis (SETH). After preparation, the control material is sent to participants in the scheme where the requested tests are performed and the results reported back to the organizer (Haematology Laboratory Department of Hospital Clínic i Provincial) for statistical analysis. For evaluating the results, laboratories are divided into four to eight groups depending on the methodologies used. Individual results are assessed against a consensus value (mean) and a deviation index (DI) from the mean, and the coefficient of variation (CV), Youden plots and other statistical information are provided for all results and groups of each parameter. More than 80% of laboratories responded regularly (up to 6 trials) for blood counts and haemoglobin and compared to the previous year (1984), the values of CV(%) improved significantly for RBC count (from 3.3 to 2.2%), haemoglobin (from 2.7 to 2.1%) and platelet count (from 22.6 to 16.3%).(ABSTRACT TRUNCATED AT 250 WORDS)

Hematologic Tests↗
PubMed1995

[Relationship between Epstein-Barr virus and lymphoproliferative syndromes in patients without immunodeficiency].

PURPOSE: The relationship between Epstein-Barr virus (EBV) and infectious mononucleosis, pharyngeal carcinoma and Burkitt's lymphoma is well known. Further relationship seems to exist between EBV and the lymphoproliferative syndromes appearing in immunodeficient subjects. The present work is aimed to study the possible relationship between the virus and the lymphoproliferative syndromes presented by people without any apparent immunodeficiency. PATIENTS AND METHODS: The presence of antibodies against different antigens of the virus was analysed. Antibodies against the viral capsid antigen were studied along with those against the early antigen and the viral core antigen in 55 patients with lymphoproliferative syndromes, of whom 38 had non-Hodgkin's lymphoma and 17 had acute lymphoblastic leukaemia, and none of them had immunodeficiency. RESULTS: Significantly higher geometric means of the titres against capsid antigen and of the prevalence of antibodies against early antigen were seen in the patients with non-Hodgkin's lymphoma with respect to the control group. On the contrary, patients with acute lymphoblastic leukaemia showed lower immunologic response than the control group, although the difference was not significant for any of the antibodies under study. CONCLUSIONS: The higher immunologic response against EBV and its reactivation in non-Hodgkin's lymphoma would suggest that such agent could play a role favouring the onset of the disease, if not as a direct aetiological factor.

Adolescent↗
PubMed1994

[Diagnosis of paroxysmal nocturnal hemoglobinuria with cytofluorometric of molecules bound to the membrane by glycosylphosphatidylinositol groups].

BACKGROUND: Paroxysmal nocturnal hemoglobinuria (NPH) is a clonal disease in which a deficit in the expression of molecules bound to the cell membrane by glycosyl-phosphatidylinositol (MUGFI) groups has been demonstrated. The MUGFI are widely distributed and among them proteins regulating the action of complement may be found. The development of monoclonal antibodies (MoAb) against MUGFI may allow the introduction of a new diagnostic method in this disease and increase the sensitivity, particularly in transfused individuals. METHODS: The erythrocytic and leukocytic phenotype of 14 patients with NPH clonality demonstrated by the classic tests of sensitivity to the complement was analyzed by immunofluorescence techniques and flow cytometry with the use of MoAb which recognize MUGFI (CD55, CD59, CD14, CD16 and CD24). RESULTS: Cells with a decrease or absence of MUGFI were observed in all the patients. The defect was demonstrated in the red cells, monocytes and neutrophils of all the patients, while it was only observed in the lymphocytes of three patients. The percentage of cells with a decrease in MUGFI was variable (2-100%) as well the pattern of deficiency against the different MoAb used. The MoAb with greatest sensitivity for the detection of clonal population were the CD59 in erythrocytes, the CD14 in monocytes and the CD24 in neutrophils. The CD16 was normal in one patient and the CD55 in two. The transfusion of packed red cells did not influence the abnormal leukocyte pattern, with abnormalities even being observed in the erythrocytary CD59. The Ham test was negative in those cases in which the percentage of negative CD59 erythrocytes was lower than 5% of the total erythrocytic population. CONCLUSIONS: The study of glucosylphosphatidylinositol by flow cytometry and monoclonal antibodies is a useful technique for the detection and quantification of the nocturnal paroxistic hemoglobinuria clone even in transfused patients.

Adult↗