PubMed HealthSearch

Biomedical subjects

B Ibarra

Publications and source records attributed to B Ibarra.

At least 19 recordsLinked to original sources

[Fetal hemoglobin and the gamma G/gamma A chain ratio in children with acute lymphoblastic leukemia L1 and L2].

PURPOSE: To search in children with acute lymphoblastic leukaemia (ALL) for specific pattern of expression of foetal haemoglobin (HbF) and its G gamma/A gamma chain ratio. MATERIAL AND METHODS: 60 children with ALL were examined: 29 with ALL-L1, and 31 with ALL-L2, and 25 healthy children as control group, which were subdivided in three groups: A) 0-5, B) 6-10 and C) 11-18 years. We performed HbF and HbA2 quantification and Hb electrophoresis. G gamma and A gamma globin chain percentages were obtained with a new method based on the precipitation of the HbF eluate by Singer's method with sulphosalycilic acid, the globin chains were separated in polyacrylamide with Triton X-100 and quantified by densitometry. RESULTS: HbF showed similar levels in both ALL groups by the Betke and Singer's methods; (ALL-L1: 2.2 +/- 1.5%, ALL-L2: 2.0 +/- 1.2%; and ALL-L1: 2.0 +/- 1.2%, ALL-L2: 2.1 +/- 1.5% respectively), but there were statistically significant differences (p < 0.001) when compared with the control group (0.9 +/- 0.4%, and 1.0 +/- 0.6% for Betke and Singer's method). The G gamma/A gamma ratio showed to be different between the ALL-L1 and ALL-L2 (p < 0.001), with higher levels of G gamma in ALL-L1 (51.0%), the ALL-L2 and the control group showed similar G gamma values (37.5% and 42.1% respectively). CONCLUSION: The factors involved in the increase of HbF are similar for both ALL-L1 and ALL-L2. However there seems to be different factors affecting the expression of G gamma or A gamma.

Adolescent

[Fetal hemoglobin in children with different neoplasms].

The rate of HbF was studied in 123 children with different malignancies in order to assess its changes and relationship with other values of peripheral blood. The cases were distributed into 34 with acute lymphoblastic leukaemia (ALL), 19 with acute myelogenous leukaemia (AML), 23 cases of Hodgkin's disease (HD), 16 of non-Hodgkin lymphoma (NHL) and 31 of different solid tumors (ST). ALL and AML groups had the highest HbF rates (2.88 +/- 1.93% and 2.63 +/- 2.7%, respectively), followed by HD and NHL (1.89 +/- 1.09% and 1.81 +/- 1.68%, respectively), whereas the ST group showed the lowest values (1.32 +/- 1.74%). When comparing these figures with the findings in a group of adult leukaemia and lymphoma (1.6 +/- 0,7% and 1.2 +/- 0.5%, respectively), it was found that HbF was increased in the children to a higher extent. The analysis of the gamma G and gamma A chains of HbF, performed on 14 of the patients, showed in 7 cases a correlation similar to the newborn pattern, while this was similar to the adults in the remainders. These findings suggest that some factors intrinsic to the neoplasm might favour, in a different degree, the re-expression of HbF, which, in turn, would not necessarily mean a reversion to the foctal stages since the correlation of the gamma chains was similar to the adult pattern in 50% of the cases studied.

Adolescent

Hematological and biochemical studies in children with Down syndrome.

Eighty-three children with Down syndrome were submitted to hematological and biochemical studies; 69 normal children were included as controls. The variables analyzed were: HbF, HbA2, serum B12 vitamin (B12), folates, total iron and iron binding capacity, hematic cytology, and the red blood cell enzymes adenosine deaminase (ADA), glucose-6-phosphate dehydrogenase (G6PD) and superoxide dismutase (SOD). The most relevant results were: macrocytosis, normal leucocytes, HbF, B12 and folates, as well as high levels of the enzymes ADA and G6PD. An indirect association between macrocytosis, ADA and G6PD is discussed.

Blood Cell Count

[Spinal epidural lymphoma. A study using computed tomography].

We have gone through the computerized tomographies (CT) of four cases of spinal epidural lymphomas (SEL) studied in our department. Paraparesis with a sensitive level was the beginning of the disease three times; sciatic pain with recurrent fever once. A myelography followed by CT was done in the three cases of paraparesis while a non-contrast CT and a contrast-enhanced study was done in the case of sciatic pain. An homogeneous intraspinal mass stretching at least along one vertebral segment was the most usual finding. This mass spread into paraspinal tissue effacing fat lines. The mass was hyperdense in relation to dural sack and was limited to intraspinal space in one occasion. We have revised bibliography about osseous lesions in SEL and have found out disagreement on it. We have found them only once in our study. Intrathecal contrast was useless in determining tumour nature but useful in delimiting intraspinal extent. We have searched for tomographic features in order to establish differential diagnosis with other spinal epidural diseases. We did not find any SEL-exclusive features but we found that an homogeneous intra-extraspinal mass, extended at least along one vertebral segment and either producing or not producing osseous lesions can make us think of the presence of spinal epidural lymphoma.

Dura Mater

Arachnoid cysts with intracystic and subdural haematoma.

Two cases of arachnoid cysts with acute intracystic and subdural haematomas are described. CT examination was performed in both cases, and showed a hyperdense expansion with thinning of the inner table of the skull. The different ways in which subdural haematomas associated with arachnoid cysts may be seen on CT are discussed.

Adolescent

Electrophoretic pattern of sorbitol dehydrogenase (E.C.1.1.1.14) in human seminal plasma and spermatozoa.

An electrophoretic study of sorbitol dehydrogenase (SORD) in sperm and seminal plasma (SP) was realized. In SP, three phenotypes (one slow band, one fast, and both bands) were observed, corroborating the electrophoretic variability of SP-SORD formerly reported by us, while, in sperm, SORD showed a phenotype of one band faster than the one of SP. Biochemical studies showed that thiol groups participate in the mobility of the SP fast band; furthermore, an interchange of the bands of SP-SORD was observed which suggests that the isozymes are due to conformational isomerism or to molecular aggregates.

Electrophoresis, Polyacrylamide Gel

Screening for thermostability and electrophoretic red blood cell sorbitol dehydrogenase (E.C.1.1.1.14) variants.

A screening for both thermostability and electrophoretic red blood cell sorbitol dehydrogenase (RBC-SORD) variants in blood donors was performed. SORD activity in standard conditions (unheated samples) in 274 individuals was 198 +/- 38.6 mIU/g Hb. The ratio of enzymatic activity after heating (H) to the activity in controls (C) before heating (H/C ratio) was 0.39 +/- 0.10. H/C ratios minor than 0.1 in 3 out of 274 blood donors and higher than 0.9 in 1 were observed. In 208 individuals, four electrophoretic phenotypes were observed: I) Three bands, named a, b and c, with cathodic mobility in 163 individuals (78.36%); II) Two bands a and c in 25 individuals (12.02%); III) Two bands b and c in 14 (6.73%); and IV) One band, c in 6 (2.88%). Studies carried out to characterize the three bands suggest that they are isozymes of the same locus with the observation of an interchange of the bands as a normal phenomena.

Electrophoresis, Disc

Aneurysms of the posterior cerebral artery in children.

Two cases of aneurysms of the posterior cerebral artery, diagnosed by CT and confirmed angiographically, are reported. In the first case, the aneurysm was discovered fortuitously. The second began with intracerebral haemorrhage. A review of the literature is reported.

Cerebral Angiography

Gliomatosis cerebri with formation of a glioblastoma multiform. Study and follow-up by magnetic resonance and computed tomography.

A case of gliomatosis cerebri studied by computed tomography (CT) and magnetic resonance imaging (MRI) is reported. Follow-up by serial CT revealed a right parieto-occipital glioblastoma. Gliomatosis cerebri and multiform glioblastoma were demonstrated by histologic study. Anatomic and CT data were correlated. The role of CT and MRI in the diagnosis of this disease was evaluated and case studies of CT published in the literature were reviewed.

Adult

Genetic heterogeneity of thalassemias in Mexican mestizo patients with hemolytic anemia.

Twenty-eight Hb abnormalities (16 thalassemias, 10 Hb variants and 2 hereditary persistences of fetal hemoglobin) were detected in an etiopathogenic search in 131 patients with hemolytic anemia. The observed thalassemic genotypes [6 beta(0)/beta, 2 (delta beta) (0)/beta(0), 2 beta(0)/beta(+), 2 beta(0)/beta(s), 2 beta(+)/beta(+), 1 beta(+)/beta(s) and 1 (delta beta)(0)/beta] showed heterogeneity in the population studied. A native origin of some of these mutations is considered.

Anemia, Hemolytic

Centric fission, centromere-telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomy.

A 5-month-old girl had a typical 12p trisomy syndrome due to a monocentric i(12p) present in a 46-chromosome complement that also included the translocation of all 12q onto the 8p telomere; i.e., her complex karyotype could be written as 46,XX,-8,-12, +der(8),t(8;12)(p23.3;cen),+i(12p). The present concurrence of a whole-arm q translocation and an i(p) for a single chromosome, along with six previous similar instances involving chromosomes 4, 5 and 9, suggests the following origin for such a special rearrangement: a centric fission in G1 initially yielding two telocentrics; at the next replication, the tel(q) translocates onto a nonhomologous telomere (centromere-telomere fusion), whereas the tel(p) becomes an i(p). This mechanism can be either meiotic or postzygotic and surmises that the translocated long arm retains a partial centromere, which subsequently is inactivated and loses its staining properties.

Abnormalities, Multiple

G-6-PD Jalisco and G-6-PD Morelia: two new Mexican variants.

Two new G-6-PD variants designated G-6-PD Jalisco and G-6-PD Morelia were identified in two unrelated Mexican families. An additional G-6-PD variant was found in each family: G-6-PD Trinacria and G-6-PD A-. In both families compound heterozygotes were identified. G-6-PD Jalisco and G-6-PD Morelia belong to Classes 3 and 4, respectively. G-6-PD Morelia is the first variant from its class with a high Km for NADP and a low Ki for NADPH.

Adult

The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies indicate that the segment 13q22----qter in trisomy with or without another concomitant aneusomy is sufficient to produce the majority of the trisomy 13 syndrome features, some of which (cleft palate, increased HbF and projections in PMN) are present in different non-overlapping partial 13q trisomies. About 82% of the D13q trisomies are inherited, more frequently from the mother.

Adult

Cerebral computed tomography in maple syrup urine disease.

Maple syrup urine disease (MSUD) is an inherited metabolic disorder due to decreased decarboxylation of branched chain keto acids triggering an accumulation of leucine, isoleucine, and valine. We describe two infants with biochemically confirmed MSUD in whom computed tomography (CT) revealed cerebral edema. In one of these cases repeat CT 40 days after institution of appropriate therapy revealed that the edema had disappeared and the ventricles had enlarged.

Brain Edema