acid-phosphatase and Down-Syndrome

Topics: Acid Phosphatase; Down Syndrome; Graft vs Host Reaction; Histocytochemistry; Humans; Hypersensitivity, Delayed; Immunity, Cellular; Leukemia; Lymphocytes; Lysosomes; Microscopy, Electron; Radiation Effects; Transplantation Immunology

Acute megakaryoblastic leukemia (AMKL) has two peaks in distribution of incidence (in adults and children 1 to 2 years of age) and is frequently seen in children with Down syndrome. The current study was undertaken to disclose whether there were any differences between these groups.. Electron microscopic and ultrastructural cytochemical features of 49 children and adults with a AMKL or chronic myelogenous leukemia (CML) in megakaryoblastic crisis were compared.. Blast cells from children with AMKL, including those with and without Down syndrome, had immature features lacking typical alpha granules and a demarcation membrane system (DMS). However, blast cells from patients with AMKL with Down syndrome had more theta, electron-lucent, and basophil-like granules, suggesting that the blast cells had more potential to differentiate into other cell lines than megakaryocytes. The AMKL blast cells of adult patients showed a higher percentage of platelet peroxidase (PPO) positivity than other subgroups, and they occasionally contained typical alpha granules and DMS. This indicated that the blast cells of adults with AMKL were more mature than those of children and CML in megakaryoblastic crisis.. By electron microscopic analysis, leukemic megakaryoblasts differed between children with AMKL with and without Down syndrome, adults with AMKL, and patients with CML in megakaryoblastic crisis.

Topics: Acid Phosphatase; Adolescent; Adult; Age Factors; Aged; Blast Crisis; Blood Platelets; Child; Child, Preschool; Cytoplasmic Granules; Down Syndrome; Histocytochemistry; Humans; Infant; Intracellular Membranes; Leukemia, Megakaryoblastic, Acute; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Megakaryocytes; Microscopy, Electron; Middle Aged; Peroxidase; Peroxidases

A case of a child with trisomy 21 and acute megakaryoblastic leukemia (AMBL) is reported. Histological examination of the bone marrow showed progressive fibrosis and replacement with megakaryoblasts. The diagnosis was confirmed by platelet peroxidase reaction and immunofluorescent staining with anti-factor VIII. Serial cytogenetic studies using banding techniques at various stages during the course of the disease (preleukemia, leukemia, remission, and relapse) showed several chromosomal abnormalities (unbalanced translocation between chromosomes 1 and 4 leading to trisomy 1q, trisomy 7q, monosomy 7p, and a reciprocal translocation between chromosomes 10 and 16). AMBL in childhood is probably more common than previously reported. Any association between AMBL and a particular cytogenetic abnormality must await further cytogenetic studies, specifically those employing banding techniques.

Topics: Acid Phosphatase; Bone Marrow; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 1-3; Chromosomes, Human, 4-5; Down Syndrome; Humans; Infant; Karyotyping; Male; Megakaryocytes; Platelet Aggregation; Platelet Count; Thrombocythemia, Essential; Translocation, Genetic

Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50, XX, +6, +19, +21, +22, +8, XX, +21, and 47,XY, +8, - 21 +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentiation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no.22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and /or G chromosomes, and that the abnormalities of +8 and of +19, +22 in DS children may be associated with acute leukemia (AL) in an early stage of myeloid differentiation.

Topics: Acid Phosphatase; Acute Disease; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Down Syndrome; Female; Humans; Infant; Karyotyping; Leukemia; Male; Naphthol AS D Esterase; Periodic Acid-Schiff Reaction; Receptors, Antigen, B-Cell; Rosette Formation

The activity of nonspecific phosphomonoesterases in cerebellar structure of newborns and infants with trisomies in the 13th (5 cases) 18th (4) and 21st (14) chromosomes was investigated. In all trisomies, changes of phosphatase activity in the cerebellar structures were demonstrated which were particularly marked with alkaline phosphatase. The activity of this enzyme increased not only in the vascular endothelium but in a number of cellular structures as well: in the external embryonal and internal granular layers of the cortex, in the nuclei of Purkinje cells and neurons of the nucleus dentatus, in the foci of heterotopia of cortical cells into the white matter and nucleus dentatus. In Edwards' syndrome the activity of alkaline phosphatase in cellular elements of the cerebellum was slightly higher than in the control group. Changes in the activity was observed in the cells of the external embryonal layer, neurons of the nucleus dentatus and in the cells of the heterotopic foci. In autosomal trisomies dystopic cells have dissimilar levels of phosphatase activity and stain mosaically which seems to confirm the assumption of their dissimilar differentiation.

Topics: Acid Phosphatase; Alkaline Phosphatase; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18; Down Syndrome; Enzyme Activation; Histocytochemistry; Humans; Infant; Infant, Newborn; Syndrome; Trisomy

Topics: Acid Phosphatase; Adolescent; Adult; Child; Child, Preschool; Down Syndrome; Erythrocytes; Female; Humans; Isoenzymes; Male

Topics: Acid Phosphatase; Adenosine Deaminase; Adenylate Kinase; Adult; Age Factors; Alanine Transaminase; Alpha-Globulins; Down Syndrome; Erythrocytes; Female; Gene Frequency; Haptoglobins; Hepatitis B Antigens; Humans; London; Male; Phenotype; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Sex Factors

Topics: Acid Phosphatase; Adult; Age Factors; Alanine Transaminase; Down Syndrome; Erythrocytes; Female; Haptoglobins; Heterozygote; Humans; Male; Maternal Age; Parents; Phenotype; Phosphoglucomutase

Topics: Acid Phosphatase; Alkaline Phosphatase; Aspartate Aminotransferases; Child; Child, Preschool; Down Syndrome; Fibroblasts; Humans; L-Lactate Dehydrogenase; Malate Dehydrogenase

Topics: Acid Phosphatase; Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Complement System Proteins; Down Syndrome; Erythrocytes; Female; Gene Frequency; Genes; Genetics, Population; Haptoglobins; Humans; Male; Middle Aged; Phenotype; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Transferrin

Topics: ABO Blood-Group System; Acid Phosphatase; Adult; Age Factors; Alanine Transaminase; Blood Group Antigens; Blood Proteins; Complement System Proteins; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Hemagglutination Tests; Hepatitis B Antigens; Humans; Immunoelectrophoresis; Immunoglobulin Fragments; Immunoglobulin G; Intellectual Disability; Lipoproteins; Phenotype; Phosphoglucomutase; Rh-Hr Blood-Group System; Serum Globulins; Sex Factors

Topics: ABO Blood-Group System; Acid Phosphatase; Adolescent; Adult; Age Factors; Aminohydrolases; Child; Child, Preschool; Culture Media; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Female; Glucosephosphates; Humans; Immunoelectrophoresis; Intellectual Disability; Isocitrate Dehydrogenase; Male; Methods; Middle Aged; Phenotype; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Sex Factors

Topics: Acid Phosphatase; Adolescent; Adult; Age Factors; Blood Group Antigens; Down Syndrome; Electrophoresis, Starch Gel; Erythrocytes; Female; Gene Frequency; Haptoglobins; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Middle Aged; Phenotype; Schizophrenia; Sex Factors; Smoking

Topics: Acid Phosphatase; Adenine Nucleotides; Child; Cystic Fibrosis; Down Syndrome; Erythrocytes; Genes; Haptoglobins; Humans; Phenotype; Phenylketonurias; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Polymorphism, Genetic; Transferrin

Topics: Acid Phosphatase; Adult; Alkaline Phosphatase; Aspartate Aminotransferases; Child; Down Syndrome; Erythrocytes; Female; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Humans; Intellectual Disability; L-Lactate Dehydrogenase; Leukocytes; Male

Topics: Acid Phosphatase; Age Factors; Alkaline Phosphatase; Child; Child, Preschool; Down Syndrome; Esterases; Histocytochemistry; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Leukocytes; Trisomy

Topics: Acid Phosphatase; Alkaline Phosphatase; Down Syndrome; Electrophoresis; Gels; Hematologic Diseases; Humans; Isoenzymes; Leukocytes

Topics: Acetylcholinesterase; Acid Phosphatase; Alkaline Phosphatase; Blood Platelets; Down Syndrome; Erythrocytes; Female; Glucosephosphate Dehydrogenase; Humans; Hydrogen-Ion Concentration; Male; Nucleotidases; Nucleotidyltransferases; Phosphofructokinase-1; Phosphotransferases

Topics: Acid Phosphatase; Adolescent; Adult; Aged; Alkaline Phosphatase; Aspartate Aminotransferases; Child; Child, Preschool; Down Syndrome; Female; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Humans; Infant; Intellectual Disability; Male; Middle Aged; Spectrophotometry

Topics: Acid Phosphatase; Alkaline Phosphatase; Culture Techniques; Down Syndrome; Fibroblasts; Glucosephosphate Dehydrogenase; Humans; Leukocytes; Nucleotidyltransferases; Trisomy

Topics: Acid Phosphatase; Alkaline Phosphatase; Down Syndrome; Glucosephosphate Dehydrogenase; Humans; Lectins; Lymphocytes; Thymidine; Trisomy; Tritium

Topics: Acid Phosphatase; Alkaline Phosphatase; Carbon Isotopes; Child; Down Syndrome; Glucosephosphate Dehydrogenase; Glycine; Humans; Leukocytes; Nucleotidases; Nucleotidyltransferases; Orotic Acid; Protein Biosynthesis; RNA; Trisomy; Tritium; Uridine

Topics: Acid Phosphatase; Alanine Transaminase; Alkaline Phosphatase; Aspartate Aminotransferases; Ceruloplasmin; Cholinesterases; Down Syndrome; Erythrocytes; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Humans; Pyruvate Kinase; Transferases; Trisomy

Topics: Acid Phosphatase; Alkaline Phosphatase; Child; Down Syndrome; Glucose-6-Phosphatase; Humans; Leukocytes; Lymphocytes; Spectrum Analysis

Topics: Acid Phosphatase; Blood Group Antigens; Buffers; Down Syndrome; Electrophoresis; Erythrocytes; Ethnology; Genes; Genetics, Medical; Humans; Phenotype

Topics: Acid Phosphatase; Alkaline Phosphatase; Blood Cells; Blood Chemical Analysis; Calcium; Down Syndrome; Enzymes; Glucosephosphate Dehydrogenase; Humans; Nucleotidases; Phosphorus; Serotonin; Trisomy; Uric Acid; Zinc

Topics: Acid Phosphatase; Clinical Enzyme Tests; Down Syndrome; Glucosephosphate Dehydrogenase; Humans; Leukocytes; Nucleotidyltransferases