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3.
Cancer Genet Cytogenet ; 127(1): 38-41, 2001 May.
Article in English | MEDLINE | ID: mdl-11408063

ABSTRACT

We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations--short stature, sterility, and hypoplasic anemia with several years of evolution-who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12-21q31-q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 1/genetics , Fanconi Anemia/genetics , Adult , Bone Marrow/pathology , Cytogenetic Analysis , Humans , Male , Sister Chromatid Exchange
4.
Int J Neurosci ; 107(3-4): 147-60, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11328688

ABSTRACT

We evaluated the binocular interaction and horizontal disparity sensitivity in neurons recorded from macaque visual cortex. Neurons from V1 of three awake Macaca mulatta monkeys were isolated by means of extracellular recording and tested for disparity sensitivity with dynamic random dot stereograms. Neurons sensitive to horizontal disparities were stimulated both monocularly and binocularly with flashing bars and their responses quantified. ANOVA and regression tests were used for data analysis. Sixty-six cells out of 185 (66/185, 36%) showed sensitivity to horizontal disparity. Disparity sensitive cells were grouped into near (25/66, 38%), tuned inhibitory (16/66, 24%), far (13/66, 20%) and tuned excitatory (12/66, 18%). Receptive fields of tuned cells were located more centrally in the visual field than those of near and far cells. The binocular interaction in tuned inhibitory cells increased linearly along with ocular unbalance. Most of tuned excitatory cells (10/12, 83%) showed facilitatory binocular interaction, characterized by a stronger response to binocular stimulation than to the stimulation of the dominant eye. On the contrary, most of tuned inhibitory cells (14/16, 88%) showed suppressory binocular interaction, characterized by a weaker response to binocular stimulation than to the stimulation of the dominant eye. Near and far cells showed both types of interaction in similar percentages. The binocular response showed a linear relationship with the sum of both monocular responses in tuned excitatory, tuned inhibitory and near cells, but not in far cells. Sensitivity to horizontal disparity may be a result of facilitatory and suppressive interactions between left and right inputs.


Subject(s)
Contrast Sensitivity/physiology , Vision Disparity/physiology , Vision, Binocular/physiology , Visual Cortex/physiology , Wakefulness/physiology , Animals , Electrodes, Implanted , Macaca mulatta , Male , Retina/physiology , Visual Fields/physiology , Visual Perception/physiology
6.
Eur J Neurosci ; 11(7): 2593-5, 1999 Jul.
Article in English | MEDLINE | ID: mdl-10383650

ABSTRACT

Due to the separation of the eyes, temporal retinal disparities are created during binocular stimulation and they have been proposed to be the basis of several stereo-visual effects. This paper studies the sensitivity of cortical neurons from area V1 to interocular temporal delay in the awake monkey (Macaca mulatta). Forty-four cells were included in this study. Temporal delay sensitivity was observed in 59% of them. About half of these temporal-delay-sensitive cells were also sensitive to the stimulation sequence of the eyes. The cells that preferred one eye to be stimulated first were termed asymmetrical (46%); those which were not sensitive to the eye sequence of stimulation were termed symmetrical (54%). No clear differences were observed in the distribution of delay-sensitive cells according to their eye dominance. Fifty-six percent of balanced cells and 65% of unbalanced cells were sensitive to interocular delay. These data underline the importance of temporal cues for depth perception.


Subject(s)
Ocular Physiological Phenomena , Visual Cortex/physiology , Animals , Depth Perception/physiology , Functional Laterality/physiology , Macaca mulatta , Male , Neurons/physiology , Photic Stimulation , Time Factors , Vision, Binocular/physiology , Visual Cortex/cytology
8.
Haematologica ; 83(8): 763-5, 1998 Aug.
Article in English | MEDLINE | ID: mdl-9793271

ABSTRACT

Most therapies for elderly patients with myelodysplastic syndromes offer few short responses and little improvement in survival. We describe two patients who, after several cycles of low dose cytosine arabinoside and GM-CSF, achieved and maintained complete remission and became transfusion independent. Previous chromosomal abnormalities also disappeared and karyotype remains normal.


Subject(s)
Anemia, Refractory/therapy , Anemia, Sideroblastic/therapy , Chromosome Aberrations , Cytarabine/therapeutic use , Granulocyte-Macrophage Colony-Stimulating Factor/therapeutic use , Immunologic Factors/therapeutic use , Aged , Anemia, Refractory/drug therapy , Anemia, Refractory/genetics , Anemia, Refractory/pathology , Anemia, Sideroblastic/drug therapy , Anemia, Sideroblastic/genetics , Anemia, Sideroblastic/pathology , Cytarabine/administration & dosage , Female , Humans
9.
Sangre (Barc) ; 43(3): 248-50, 1998 Jun.
Article in Spanish | MEDLINE | ID: mdl-9741236

ABSTRACT

Granulocytic sarcoma (GS) is a rare extramedullary tumor composed of myeloblasts and other granulocytic precursors. GS is mostly associated with myeloproliferative disorders, myelodysplastic syndromes and acute myeloid leukaemia. These tumors arise in the absence of leukaemia, at its initial diagnosis or at the time of recurrence. The most common sites of involvement are bone, skin, soft tissue and lymph node. Reports of GS in testis are very rare. We report an unusual case of GS in a patient with megakaryoblastic leukaemia arising in the left testis after four months in complete remission attained with low doses of Ara-C and granulomonocytic stimulating factor.


Subject(s)
Leukemia, Megakaryoblastic, Acute/pathology , Testicular Neoplasms/pathology , Aged , Antimetabolites, Antineoplastic/therapeutic use , Cytarabine/therapeutic use , Fatal Outcome , Granulocyte-Macrophage Colony-Stimulating Factor/therapeutic use , Humans , Leukemia, Megakaryoblastic, Acute/drug therapy , Male , Recurrence
12.
Postgrad Med J ; 70(826): 572-5, 1994 Aug.
Article in English | MEDLINE | ID: mdl-7524052

ABSTRACT

We studied the frequency and time of appearance of antibodies to the hepatitis C virus (HCV) retrospectively in the sera of 127 patients who underwent heart surgery between 1983 and 1986. They received blood from volunteer donors hepatitis B surface antigen (HBsAg) negative with normal serum alanine-aminotransferase levels. A prospective follow-up was carried out every 15 days for at least 6 months from the moment of the transfusion. Of the ten patients who developed biochemical criteria of post-transfusional non-A non-B hepatitis, six seroconverted to anti-HCV (60%). Of the other 117, two were already positive before transfusion (1.51%), one patient showed antibodies only in the first post-transfusional serum (passive transfer), and another two patients with no evidence of post-transfusional hepatitis developed HCV antibodies on the 90th day, remaining indefinitely (afterwards seroconversion without hepatitis); both patients' earlier sera were anti-HCV negative. Four (40%) of the ten patients with post-transfusional hepatitis did not develop any serum markers to known hepatotropic agents. Although these findings do not exclude a viral infection by these viruses, they are consistent with the involvement of an unidentified non-A, non-B, non-C agent.


Subject(s)
Blood Transfusion , Cardiac Surgical Procedures , Hepacivirus/immunology , Hepatitis Antibodies/blood , Female , Hepatitis C/immunology , Hepatitis C Antibodies , Humans , Male , Middle Aged , Postoperative Period , Prevalence , Retrospective Studies
13.
Br J Haematol ; 87(3): 614-6, 1994 Jul.
Article in English | MEDLINE | ID: mdl-7993804

ABSTRACT

Acquired acanthocytosis (AA) is an uncommon disease characterized by the presence of abnormal red cells (acanthocytes) in the blood smears of affected subjects. Acanthocyte membrane is enriched in cholesterol by an abnormal plasma lipoprotein. We studied the existence of similar changes in platelets of one patient with AA. Red cell cholesterol/phospholipid (Ch/PL) ratio in the patient was 1.6 (normal 1.1 +/- 0.1). Phosphatidylcholine (PC) comprised 36% of total phospholipid (30.7 +/- 1.8% in controls). Platelets showed aberrant morphology in the blood smears, and the ratio Ch/PL was high in comparison with normal platelets (1.4 v 0.6 +/- 0.1). PC comprised 52% of total PL (39.6 +/- 1.9% in normal platelets). Normal platelets incubated with autologous plasma for 24 h maintained a Ch/PL ratio of 0.7, whereas this value changed to 1.4 when these cells were incubated with plasma from the patient. These results suggest that platelets of patients affected by AA acquire the same biochemical abnormality as red cells.


Subject(s)
Acanthocytes/chemistry , Blood Platelets/pathology , Phospholipids/blood , Acanthocytes/pathology , Blood Platelets/chemistry , Female , Humans , Liver Cirrhosis, Alcoholic/blood , Liver Cirrhosis, Alcoholic/pathology , Middle Aged
15.
Rev Esp Enferm Dig ; 84(4): 245-8, 241-4, 1993 Oct.
Article in English, Spanish | MEDLINE | ID: mdl-8292436

ABSTRACT

OBJECTIVE: Studying the frequency and timing of the appearance of the virus C antibody. PATIENTS: We studied serum samples of 57 patients whom developed post-transfusional non-A non-B hepatitis. 34 males, and mean age was 47.56 +/- 13.45 years. Initially anti-HVC was detected by ELISA, and the test was repeated on the last negative sample and the first two positive ones of each patient. RIBA-I and 2nd generation ELISA were performed on these same samples. HCV polymerase chain reaction was performed in 5 seronegative patients by the other techniques. RESULTS: Fifty patients (87.5%) seroconverted to anti-HCV; 26 (52%) within 30 days after the onset of the disease (11 during incubation period); and, 24 (48%) seroconverted after the first month of the disease. Anti-HCV negative patients had lower transaminase levels. Twenty six (52%) of the 50 patients showing seroconversion developed a chronic hepatitis, while this occurred in two (28.5%) of the seven seronegative patients (this difference was not statistically significant). Determination of HCV-RNA by polymerase chain reaction, performed (eight years after the onset of the disease) in 4 of the five seronegative patients by ELISA and RIBA techniques, was negative. Nowadays one of them is anti-HCV and HCV-PCR positive and sustain normal transaminases values. CONCLUSIONS: 87.5% of post-transfusional non-A non-B hepatitis seroconverted during the follow-up. 26 (52%) showed this within 30 days after the onset of their disease; of this group, 11 became seropositive before their ALT values rose. Nowadays in all patients (except one) initially seronegative, in which polymerase chain reaction was performed, negative serology results persist. There were no clinical and evolution differences between the groups.


Subject(s)
Hepacivirus/immunology , Hepatitis Antibodies/blood , Hepatitis C/epidemiology , Adult , Binomial Distribution , Chi-Square Distribution , Enzyme-Linked Immunosorbent Assay , Female , Hepatitis C/immunology , Humans , Incidence , Male , Middle Aged , Prognosis , Prospective Studies , Seroepidemiologic Studies , Spain/epidemiology , Time Factors
17.
Acta Haematol ; 90(2): 99-101, 1993.
Article in English | MEDLINE | ID: mdl-7506860

ABSTRACT

Amylase-producing tumors are mainly adenocarcinomas and, in rare instances, multiple myelomas. We describe here a first case of amylase-producing Bence Jones type myeloma with pancreatitis-like symptoms and the second in a Caucasian patient. The finding of salivary-type hyperamylasemia in a 72-year-old female with a possible pancreatitis made us suspect the diagnosis. Amylase production was observed in bone marrow cultures in which 96% of cellularity was composed of plasmablasts. Serum amylase level decreased when chemotherapy was given.


Subject(s)
Amylases/biosynthesis , Bence Jones Protein , Multiple Myeloma/diagnosis , Pancreatitis/diagnosis , Aged , Amylases/blood , Bone Marrow/enzymology , Bone Marrow/pathology , Diagnosis, Differential , Female , Humans , Multiple Myeloma/enzymology , Plasma Cells/pathology , Saliva/enzymology
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