ABSTRACT
The purpose of this work was to assess the re-arrangement of RAR-alpha and pml genes in a group of patients with acute promyelocytic leukaemia (APL) in different stages of the disease. Twenty-two patients with APL were studied. Of them, 17 were at the onset and 5 had achieved already complete haematological remission (CR). Evolutive post-remission studies were performed in 8 cases. The cytogenetic analysis was carried out at diagnosis by means of the G-band technique in 14 patients. The molecular study of RAR-alpha and pml genes was made with the Southern method. The common anomaly, t(15;17) was present in 7 of the 9 cases with evaluable metaphases (78%), in one case a 17q+ was the only cytogenetic alteration and another patient had normal karyotype. The molecular study showed re-arrangement of one or both genes involved in the translocation in the 17 patients studied at the onset of the APL. Those patients studied only in CR showed a germinal configuration. Rearrangement bands reappeared in 3 of the 8 patients evaluated along their clinical course. These results are in concordance with previous studies, in which re-arrangement of RAR-alpha and pml genes had been found in APL, despite there are instances in which no cytogenetic anomalies are found; this confirms the interest of molecular studies in the diagnosis and follow-up of APL patients.
Subject(s)
Gene Rearrangement/genetics , Leukemia, Promyelocytic, Acute/genetics , Neoplasm Proteins , Nuclear Proteins , Receptors, Retinoic Acid/genetics , Transcription Factors/genetics , Female , Humans , Karyotyping , Male , Promyelocytic Leukemia Protein , Retinoic Acid Receptor alpha , Tumor Suppressor ProteinsABSTRACT
Se estudiaron 38 lactantes con 6 meses de edad y buen estado de salud. Se realizaron las siguientes determinaciones en el suero: índice de saturación de la transferrina, protoporfirina eritrocitaria libre, ferritina sérica albúmina, proteínas m
Subject(s)
T-Lymphocytes/immunology , Iron/deficiency , Anemia, Hypochromic/diagnosis , Anemia, Hypochromic/prevention & control , InfantABSTRACT
A 28 enfermos con neuropatía epidémica en su forma clínica de neuritis óptica y 15 individuos aparentemente sanos (familiares o convivientes de los pacientes), se les determinó la actividad de glucosa 6 fosfato deshidrogenasa (G6PD), 6 fosfoglucónico deshidrogenasa (G6PD), glutatión reductasa (GR), deshidrogenasa láctica (LDH) y muramidasa. Los resultados se compararon con los valores normales establecidos con anterioridad a la aparición de la enfermeda. No se observaron diferencias significativas en 6 PGD, LDH y muramidasa entre los e grupos ni con los controles. La G6PD y la GR mostraron diferencias significativas entre pacientes y controles (p < 0,01 y p < 0,001) y entre convivientes y controles (p <0,001 y p <0,05). El 54,2 de los pacientes y el 38,5 de los convivientes mostraron niveles de G6PD disminuidos y el 53,6 de los pacientes y el 46,7 de los convivientes presentaron actividad de GR por debajo del límite inferior normal.
Subject(s)
Glucosephosphate Dehydrogenase/metabolism , Phosphogluconate Dehydrogenase/metabolism , L-Lactate Dehydrogenase/metabolism , Glutathione Reductase/metabolism , Muramidase/metabolism , Optic Neuritis/enzymology , Optic Neuritis/etiology , Polyneuropathies/enzymology , Polyneuropathies/etiologyABSTRACT
Oncogenes bcl1 and bcl2 are located in the rupture site of t(11;14) and t(14; 18), respectively. They have been found to rearrange in different B-cell malignancies. A molecular study of oncogenes bcl1 and bcl2 was carried out in 42 patients diagnosed of B-cell chronic lymphoid leukaemia. In 14.3% of the patients the rearrangement affected bcl1, but no differences were found with regard to stage and clinical course between these patients and those without any oncogen rearrangement. In all the patients studied bc12 was in a germinal configuration.
Subject(s)
Chromosomes, Human, Pair 14/ultrastructure , Chromosomes, Human, Pair 18/ultrastructure , Gene Rearrangement , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Oncogenes , Translocation, Genetic , Aged , Aged, 80 and over , Blotting, Southern , DNA, Neoplasm/analysis , Female , Humans , Immunophenotyping , Male , Middle AgedABSTRACT
In order to assess the status of their immunologic system, a study was carried out in 38 adults with sickle-cell anaemia. Fifty healthy blood donors were used as control group. Significant decrease of serum albumin (p less than 0.02) and increase of alpha-globulins (p less than 0.01) and gamma-globulins (p less than 0.001) were present in the patients. They showed also significantly decreased percentage of spontaneous rosette-forming lymphocytes (p less than 0.01) and of lymphocytes responding to anti-CD3 monoclonal antibody (p less than 0.05) with respect to the control group. Such relative T-cell decrease in peripheral blood seemingly took place by means of decreasing CD4-positive subpopulations, whose percentage was significantly lower (p less than 0.001) in the patients than in the control subjects. Functional studies showed a significant decrease (p less than 0.001) of the activity of natural cytotoxic cells. None of the patients had antibodies against human immunodeficiency viruses type 1 and type 2, and 60% of them were positive to cytomegalovirus test. No statistical correlation was found between the immunological findings and the presence of antibodies against such virus, neither such alterations correlated with the number of blood units received by the patients.
Subject(s)
Agammaglobulinemia/etiology , Anemia, Sickle Cell/immunology , Lymphopenia/etiology , Adolescent , Adult , Anemia, Sickle Cell/complications , Cytotoxicity, Immunologic , Female , Humans , Lymphocyte Activation , Lymphocyte Subsets , Male , Middle AgedABSTRACT
Se tratron 10 pacientes con dosis bajas de citocina arabinósido: 6 con leucemia aguda mieloblástica, 2 con anemia refractaria con exceso de blastos, 1 con leucemia mielomonocítica crónicay 1 con leucemia mieloide crónica en fase acelerada. El 40 de los casos alcanzó una remisión completa, el 20 una respuesta parcial y el resto no tuvo ninguna mejoría con el tratamiento. En el 30 de los pacientes se comprobó, durante el curso del tratamiento, una depresión medular ligera transitoria expresada por trombocitopenia, leucopenia o ambas. Estos resultados sugieren que en el mecanismo de acción de las dosis bajas de arabinósido de citocina se combinan un efecto de inducción de la maduración con un efecto antimitótico (AU)
Subject(s)
Leukemia, Lymphoid/diagnosis , Leukemia, Myeloid, Acute/drug therapyABSTRACT
En 56 individuos normales y 23 pacientes que padecen leucemia mieloide crónica (LMC) se determinó la capacidad total (CTUF) de proteínas transportadoras de folatos. Se observó una tendencia hacia valores más altos de CTUF y CIUF en los hombres y de folatos en las mujeres y una correlación positiva significativa entre ambas variables. Se hallaron valores elevados de CTUF y CIUF > 300 pg/ml y 200 pg/ml respectivamente en el 29 de individuos normales. El análisis de los árboles genealógicos de 3 de estos individuos sugiere la posibilidad de que este fenómeno sea de origen genético con un tipo de herencia dominante autosómica. Se puso de manifiesto el limitado valor diagnóstico de esta técnica en la evaluación de pacientes con LMC de bido a la gran superposición de loa valores de CTUF y CIUF de estos últimos con los individuos normales (AU)
Subject(s)
Leukemia, Lymphoid , Folic Acid/analysisABSTRACT
Se informa que en el suero de 31 pacientes con diversos estados de insuficiencia medular se investigó la presencia de inmunocomplejos circulantes. Se demostraron complejos solubles en 4 pacientes con aplasia medular (9/4): uno con aplasia megacariocítica (1/1), y 3 con aplasia eritrocítica (3/3). Se discute la significación de los inmunocomplejos en relación con la patogénesis y el pronóstico (AU)
