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F Gilsanz

Publications and source records attributed to F Gilsanz.

At least 37 records · Page 2Linked to original sources
PubMed1995

Acquired pure red cell aplasia: a study of six cases.

Persistent infection by parvovirus B19 associated with pure red cell aplasia (PRCA) has been documented in immunocompromised patients. Bone marrow failure is associated with conditions in which immune surveillance is impaired, and in these instances occult parvovirus infection may be suspected. In this study we have assessed by serological and molecular methods whether parvovirus B19 infection may be a more frequent cause of PRCA than hitherto suspected and whether it may be present in the absence of a typical bone marrow picture. Six patients with PRCA--two with isolated PRCA and no apparent underlying disease, two with a lymphoproliferative disease, one with thymoma, and one with chronic myelomonocytic leukemia--have been studied. Four of the six patients had overt PCRA and were clearly immunocompromised. Parvovirus B19 was not detected in any of the six patients by PCR analysis and serology investigating the presence of IgM or IgG antibodies. Although parvovirus B19 infection needs to be ruled out in PRCA it represents only one, and probably not the most frequent, etiological factor of PRCA.

Adult↗
PubMed1993

Hb Villaverde [beta 89 (F5) Ser-->Thr]: the structural modification of an intrasubunit contact is responsible for a high oxygen affinity.

Hb Villaverde [beta 89 (F5) Ser-->Thr], identified in a Spanish patient, is a new human hemoglobin variant, electrophoreticaly silent, responsible for a severe erythrocytosis. This abnormal hemoglobin displays a very high oxygen affinity and a markedly reduced cooperativity that is partly restored in the presence of IHP. Determination of the structural abnormality was achieved on a mixture of the normal and abnormal beta-chains. After isolation of the abnormal tryptic peptide by RP-HPLC, its sequence was determined by mass spectrometry. The structural abnormality disturbs the intrasubunit interaction between helices F and H and, thus, may weaken the C-terminal bonds of the deoxy conformation and the heme contacts of several hydrophobic residues. Hb Villaverde demonstrates that this intrasubunit contact between helices F and H is essential for the cohesion of the hemoglobin molecule.

Adult↗
PubMed1993

Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C.

Human erythrocyte p55 is a peripheral membrane protein that contains three distinct domains in its primary structure: an N-terminal domain, an SH3 motif, and a C-terminal guanylate kinase domain. We used naturally mutated red blood cells (RBCs) with primary genetic defects resulting in the absence of protein 4.1 (4.1[-] hereditary elliptocytosis) or glycophorin C (Leach elliptocytosis). The absence of either protein was associated with the absence of p55. On a stoichiometric basis, the reduction in glycophorin C (about 80%) was concomitant to the lack of p55 in RBCs devoid of protein 4.1. Similarly, the reduction of protein 4.1 (about 20%) was equivalent to the absence of p55 in RBCs devoid of glycophorin C. These correlations suggest that p55 is associated, in precise proportions, with the protein 4.1-glycophorin-C complex, linking the skeleton and the membrane. The protein 4.1-glycophorin-C cross-bridge is known to be critically important for the stability and mechanical properties of human RBC plasma membrane. Because isoforms of protein 4.1, glycophorin C, and p55 exist in many tissues, these results provide evidence of a linkage between the skeleton and the membrane that may have implications in many nonerythroid cells.

Blood Proteins↗
PubMed1993

Diagnosis of hereditary spherocytosis with dual-angle differential light scattering.

Efficacy in the diagnosis of hereditary spherocytosis (HS) using a system of dual-angle differential light scattering of a monochromatic laser beam on sphere-shaped and fixed erythrocytes was evaluated. Fifty-one nonsplenectomized patients with HS, 6 with autoimmune hemolytic anemia, and 140 control subjects were studied. The percentage of erythrocytes with hemoglobin concentration more than 410 g/L (hyperhemoglobin) was significantly different in patients with HS and control subjects (P < 0.001). Hyperhemoglobin could be detected even in the mildest HS, in all patients with autoimmune hemolytic anemia, and in some control subjects, although none of the latter had more than 3%. This technique is extremely sensitive to the presence of spherocytes and the absence of erythrocytes with more than 410 g/L hemoglobin excludes HS. The presence of hyperhemoglobin is not specific for HS and increased amounts of hyperhemoglobin were found in patients with autoimmune hemolytic anemia and control subjects. To make a confident diagnosis of HS, the detection of hyperhemoglobin must be evaluated in the same clinical setting and with the same criteria as those applied to the osmotic fragility test.

Erythrocytes↗
PubMed1993

Fetal anaemia due to pyruvate kinase deficiency.

Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this disorder.

Anemia, Hemolytic, Congenital↗
PubMed1992

Cytohematologic and cytogenetic prognostic factors at diagnosis and in the evolution in 46 primary myelodysplastic syndromes.

The myelodysplastic syndromes (MDS) are a heterogeneous group of diseases with different prognosis and evolution. Most of the studies on prognostic factors performed previously have independently evaluated the clinico-hematologic or cytogenetic data at diagnosis. In the present paper, 46 primary MDS were clinically, hematologically, and cytogenetically investigated at diagnosis, in order to determine the principal factors affecting the survival probability between a great number of characteristics. A univariate regression analysis of all the data allows one to recognize that the main factors are: the complexity of karyotype (p = 0.00001), the percentage of type I and total marrow blast cells (p = 0.001), and the abnormal localized immature myeloid precursors' (ALIP) presence (p = 0.001). Twenty-five patients underwent consecutive studies during their evolution. The karyotype instability gives information both on the likely evolution to acute leukemia and on poor survival.

Adult↗
PubMed1992

Chronic ethanol abuse and membrane fluidity changes in liver disease.

The long-term effect of ethanol on human red cell membrane fluidity was studied, by fluorescence polarization with 1,6-diphenyl-1,3,5-hexatriene as a probe, in 11 healthy subjects, 9 chronic alcoholics without evidence of liver disease, 12 chronic alcoholics with biopsy-proven alcoholic liver disease and 9 abstemious patients with chronic active liver disease, most of them cirrhosis of the liver. Fluorescence polarization values were not significantly different in the two groups without liver disease. Patients with alcoholic and non-alcoholic liver disease showed higher fluorescence polarization values than patients without liver disease. These changes correlated with the severity of liver dysfunction and were not related to alcohol consumption. In conclusion, the decrease in fluidity of the erythrocyte membrane in alcoholic patients with chronic liver disease, is related to liver dysfunction but not to chronic ethanol ingestion. Changes in membrane fluidity in chronic alcoholics are found only in the presence of liver disease.

Adult↗
PubMed1992

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced. The abnormal allele was associated with the -++-- haplotype (Pvu II, Bgl II, Bgl II, Pvu II, Pvu II). mRNA 4.1(-) had an apparently normal size but was diminished by about two-thirds. Because the abnormal phenotype pertained to the red cell, we sequenced the 4.1 cDNA regions that appear critical to this cell type. The ultimate change turned out to be a point mutation of the downstream translation initiation codon (AUG-->AGG). No disorders in other cell types could be related with certainty to the present 4.1(-) HE allele.

Adult↗
PubMed1992

Age and sex matched analysis of Hb Lepore trait in a new population in Spain.

A group of subjects with Hb Lepore trait has been found in the region between Extremadura and Toledo in Spain. Clinical, radiological and hematological studies were carried out on 81 cases from 23 families. Asthenia was the sole complaint in seven of forty cases. Abdominal echography showed no cholelithiasis in 16 children under 16 years. Hb Lepore mean was 10.81 +/- 1.97%, range 6.5 to 16.1%, Hb A2 levels were normal and Hb F values were high. Globin chain synthesis in reticulocytes showed a total alpha/beta ratio of 1.89 +/- 0.3. Hematological values from Hb Lepore trait subjects were analyzed according to age and sex and the data compared to beta thalassemia and delta-beta thalassemia cases of matched age and sex. Hb Lepore trait patients had a milder form of thalassemia minor than beta thalassemia patients, with higher levels of hemoglobin, MCV and MCH for all three groups: children under 13 years, males over 14 years and females over 14 years. Children and females with Hb Lepore had higher hemoglobin levels than those with delta-beta thalassemia minor, while no significant difference was found in males.

Adolescent↗
PubMed1989

[Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. Apropos of 2 new cases of hereditary deficit and another one of lead poisoning].

Congenital pyrimidin 5'nucleotidase deficiency manifests as hemolytic anemia with basophilic stippling. In lead poisoning, anemia, basophilic stippling and inhibition of erythrocyte pyrimidin 5' deficiency are also observed. In the present work, we report two cases of hemolytic anemia secondary to congenital deficiency of pyrimidin 5' nucleotidase and another case secondary to lead poisoning. Since 1974, when pyrimidin 5' nucleotidase deficiency was isolated, is known that hemolysis is related to the accumulation of pyrimidin nucleotides within the erythrocytes that behave as metabolic inhibitors. However, the precise metabolic process whose inhibition leads to the shortening of erythrocytes half life has not been elucidated yet.

5'-Nucleotidase↗
PubMed1989

Characterization of a new alpha-thalassemia-1 deletion in a Spanish family.

A new type of alpha-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying a zeta-globin triplication. The resulting chromosome lacks the alpha 2- and alpha 1-globin genes, the psi alpha 2- and psi alpha 1-globin genes, and one of the three zeta-globin genes, while the other two zeta-globin genes and the theta 1-globin gene have been retained.

Adult↗
PubMed1989

[Usefulness of cytometry based on the diffraction of a laser beam in evaluating spherocytosis].

Thirty four cases of hereditary spherocytosis were studied by means of laser diffraction cytometry. The cases were grouped for study in accordance to previous splenectomy or not, familial involvement or not, and, in patients not subjected to splenectomy, severity of the clinical course. The values used to assess the presence of spherocytosis were those measuring the haemoglobin concentration within red cells, such as CH (directly estimated mean corpuscular haemoglobin), HDW (standard deviation of the distribution according to haemoglobin concentration) and % hyper (percentage of cells with haemoglobin concentration higher than 41 g/dL). The variables attained were statistically analysed by means of non-parametric tests. In patients with spherocytosis, MCV, MCHC, RDW, HDW, % hyper, and CH were significantly different from the normal group. This method points to the presence of spherocytosis by means of CH, HDW and % hyper. A reduction of the limit of haemoglobin concentration used to define % hyper (41 g/dL) could improve the sensitivity of the instrument for the diagnosis of the mild forms, which is often more difficult.

Erythrocyte Indices↗
PubMed1989

[Effects of high-frequency ventilation on the intracranial pressure and cerebral elastance in dogs].

We have evaluated the effects of the high frequency "jet" ventilation (HFJV) in 12 healthy dogs, under normal intracranial pressure (ICP) as well as under progressive Intracranial Hypertension (ICH). With a normal ICP, no significant differences were found in the mean ICP regarding the intermittent positive pressure ventilation (IPPV). However, during ICH the HFJV not only decreases the global cerebral elastance (CE), P/V curve with smaller slope, but also places the brain in an improved dynamic condition in the sense that, at an equal ICH level, the CE is lower, CE mean ICP relation having a significant difference (p less than 0.001).

Animals↗
PubMed1988

Improvement in the erythropoiesis of chronic haemodialysis patients with desferrioxamine.

16 chronic haemodialysis patients (group I), with non-microcytic anaemia (mean haemoglobin 7.2 g/dl, SD 1.0, range 5.8-9.8), moderate aluminium overload (serum aluminium 44 micrograms/l, SD 16, range 21-74), and normal or high iron stores (ferritin 800 micrograms/l SD 464, range 34-2013) were treated with intravenous desferrioxamine 1 g at the end of each dialysis for six months. 8 patients with similar characteristics served as controls (group II). After six months group I showed a rise in haemoglobin to 9.1 (SD 2.5) g/dl and a decrease in blood transfusion requirements, both significant, whereas group II showed no changes. Other significant changes observed in group I, but not group II, were a rise in reticulocytes and in red cell creatine and a fall in red cell protoporphyrin and serum ferritin. Ferritin decreased more in the patients whose anaemia improved. Minor increases in serum aluminium in group I did not differ from those in the control group. Desferrioxamine may benefit the anaemia of chronic haemodialysis patients through improvement of erythropoiesis. The effect seems not to be related to chelation of a heavy aluminium overload.

Adult↗