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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It was shown by Pincus and Klebanoff that a correlation existed between leukocytic iodination measured in vivo and microbicidal leukocytic activity. We have analyzed the results of this test in relation to time and in the presence of variable quantities of polymorphonuclear leukocytes (PMN). The values observed per time and PMN unit proved to be equivalent in the presence of 2.5 X 105 PMN or 5.0 x 105 PMN per 0.5 ml of incubation medium, measured after 10, 20 and 30 minutes or in the presence of 1.0 x 106 PMN, measured after 10 minutes. That is to say iodination is proportional to leukocyte concentration and incubation time. Increase of either the quantity of cells or the incubation time, beyond the area we defined, reduced iodination per cell and per unit of time. Concerning the patients with an insufficient iodination, we have studied 2 parameters in the presence of 5.0 x 105 PMN: 1) initial iodination measured after 10 and 20 minutes and 2) stability of iodination measured after 60 minutes. These two parameters were equally affected in two cases with myelofi-rosis, 3 patients with acquired refractory anaemia, one with chronic lymphoid leukaemia, one with erythroleukaemia, one with hairy cell leukaemia, one with systemic mastocytosis and almost complete myeloperoxidase dificiency, one with sickle cell disease, two with liver diseases and two with chronic myeloid leukaemia. The iodination at the 60th minute was more affected than at the 10th minute with a patient with myelofibrosis and 4 other patients with acquired refractory anaemias. The significance of these differences is not well understood; however the meaning of the decrease in the iodination of whatever type is that a PMN anomaly exists directly related to the myeloperoxidase H2O2 halogenation system, or to one of the stages of engulfment and/or metabolic events preceeding it and leading to the production of H2O2. This test, with the alterations we introduced, is suggested as a test for detection of functional PMN abnormalities.
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PMID:Quantitative iodination of human blood polymorphonuclear leukocytes. 16 86

Routine hematological tests were performed in a family which was at risk for sickle cell disease. Cellulose acetate electrophoresis and Triton PAGE were employed to differentiate between various variants of hemoglobin. Based on the data a pedigree was constructed which indicated that few members of the respectively had received the S gene, some of them were sickle cell disease while few were sickle cell trait. Elevated levels of peroxidase enzyme in affected individuals reflect its involvement in RBCs destruction. Statistical analysis strengthen this statement.
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PMID:Pedigree analysis and involvement of peroxidase in sickle cell disease. 133 54

The central projections of the main olfactory bulb and the accessory olfactory bulb of the adult leopard frog (Rana pipiens) were reexamined, by using a horseradish peroxidase anterograde tracing method that fills axons with a continuous deposit of reaction product. The fine morphology preserved by this method allowed the terminal fields of the projection tracts to be delineated reliably, and for the first time. Herrick's amygdala has been newly subdivided into cortical and medial nuclei on the basis of cytoarchitecture, dendritic morphology, and the differential projections of the main and accessory olfactory tracts. The main olfactory bulb projects through the medial and lateral olfactory tracts to the postolfactory eminence, the rostral end of the medial cortex, the rostral end of the medial septal nucleus, the cortical amygdaloid nucleus, the nucleus of the hemispheric sulcus, and both the dorsal and ventral divisions of the lateral cortex, including its retrobulbar fringe. The lateral olfactory tract overlaps the dorsal edge of the striatal plate along the ventral border of the lateral cortex, but it is not certain whether any striatal cells are postsynaptic to the tract fibers. The lateral cortex is the largest of these territories, and receives the terminals of the main olfactory projection throughout its extent. It extends from the olfactory bulb to the posterior pole, and from the striatum to the summit of the hemisphere, where it borders the dorsal cortex. The medial and lateral olfactory tracts combine in the region of the amygdala to form a part of the stria medullaris thalami. These fibers cross in the habenular commissure and terminate in the contralateral cortical amygdaloid nucleus and periamygdaloid part of the lateral cortex. Cells projecting to the main olfactory bulb are found in the diagonal band and adjacent cell groups, but there is no evidence of an interbulbar projection arising from either the olfactory bulb proper or a putative anterior olfactory nucleus. The accessory olfactory bulb projects through the accessory olfactory tract to the medial and cortical amygdaloid nuclei. A fascicle of the tract crosses in the anterior commissure to terminate in the contralateral amygdala. While the main and accessory olfactory projections may converge in the cortical amygdaloid nucleus, the medial amygdaloid nucleus is connected exclusively with the accessory olfactory bulb.
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PMID:Differential projections of the main and accessory olfactory bulb in the frog. 170 55

Dot blot analysis on enzymatically amplified trophoblast DNA with allele specific oligonucleotide probes is currently used for the prenatal diagnosis of single gene disorders characterised at the molecular level, such as the beta thalassaemias, phenylketonuria, sickle cell anaemia, and alpha 1-anti-trypsin deficiency. A potential problem with the use of this procedure is the co-amplification of maternal sequences, which may obscure the diagnosis in the fetus. To address this question, we carried out prenatal diagnosis of beta thalassaemia in 300 couples at risk by dot blot analysis on enzymatically amplified DNA with 32P or horseradish peroxidase labelled allele specific oligonucleotide probes. We verified the diagnosis obtained by this procedure with oligonucleotide hybridisation on electrophoretically separated non-amplified trophoblast DNA fragments. We detected no co-amplified maternal sequences, even with a faint signal, in the dot blot of trophoblast DNA from those fetuses diagnosed as normal or homozygotes, nor in those diagnosed as heterozygotes, who were born to parents carrying different mutations and had inherited the paternal mutation. These results indicate that, when careful dissection of trophoblast tissue from maternal decidua is carried out, amplification of chorionic villi DNA is not associated with amplification of maternal DNA sequences. We may thus conclude that dot blot analysis of trophoblast DNA is a very reliable procedure for prenatal diagnosis.
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PMID:Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA. 232 4

We have developed a simple and rapid nonradioactive method for detecting genetic variation and have applied it to the diagnosis of sickle cell anemia and beta-thalassemia. The procedure involves the selective amplification of a segment of the human beta-globin gene with oligonucleotide primers and a thermostable DNA polymerase, followed by hybridization of the amplified DNA with allele-specific oligonucleotide probes covalently labeled with horseradish peroxidase. The hybridized probes were detected with a simple colorimetric assay. We demonstrated the usefulness of this method in a retrospective analysis of two pregnancies at risk for beta-thalassemia and one at risk for sickle cell anemia, as well as in an analysis of nine DNA samples simulating three family sets.
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PMID:Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. 340 66

Sickle cell anemia and other chronic hemolytic anemias are associated with an increased frequency of bacterial infections. There is evidence to suggest that in hemolytic states massive erythrocyte (RBC) ingestion by macrophages interferes with their antibacterial function, thereby predisposing infection. Stimulated by this possibility, we recently demonstrated that erythrophagocytosis by macrophages markedly inhibited intracellular killing of bacteria, and that zymosan-stimulated superoxide generation and chemiluminescence were also suppressed by RBC ingestion. We examined the effects of RBC components on generation of chemiluminescence, superoxide, and bactericidal activity by cell-free oxidative systems. Generation of chemiluminescence by hypoxanthine-xanthine oxidase was depressed in the presence of human RBC lysate or column-fractionated hemoglobin but not crystallized human hemoglobin (methemoglobin) (peak cpms of 15,522 [P = 0.00024], 28,360 [P = 0.0088], and 50,041 [P = 0.37], respectively, compared with 59,898 for positive controls). Similarly, hypoxanthine-xanthine oxidase production of superoxide was inhibited in the presence of column-fractionated human hemoglobin (43.8 versus 17.4 nmol per tube, P = 0.000001). A cell-free bactericidal system, acetaldehyde and xanthine oxidase with or without myeloperoxidase and Cl-, was markedly inhibited by column-purified hemoglobin. For example, after 2 h of incubation, surviving numbers of Staphylococcus aureus were: control (buffer only), 2.5 X 10(6)/ml; bactericidal system, none; bactericidal system plus hemoglobin, 2.2 X 10(6)/ml (P less than or equal to 0.03, bactericidal system versus other systems). Our studies have documented that interactions between RBC (hemoglobin) and reactive products of oxygen metabolism inhibit oxidative bactericidal mechanisms in cell-free systems as well as in macrophages.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Inhibition of cell-free oxidative bactericidal activity by erythrocytes and hemoglobin. 632 49

Eight patients with homozygous sickle cell anemia, 15 heterozygotes, and eight control individuals were investigated with respect to plasma concentrations of the inflammatory markers lysozyme and myeloperoxidase and the complement activation marker C3d. The patients showed significantly increased levels of myeloperoxidase and C3d, but not lysozyme, compared with the heterozygotes and the controls. The heterozygotes were also significantly different from the controls with regard to C3d concentration. The concentrations of myeloperoxidase and C3d in plasma showed a significant inverse correlation with the hemoglobin concentration. Myeloperoxidase and C3d showed a significant positive correlation. This suggests a role for the neutrophil and the complement system in the pathophysiology of sickle cell disease.
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PMID:Increased in vivo activation of neutrophils and complement in sickle cell disease. 827 46

High-titer monoclonal antibodies (mAb) were raised against chromatographically purified human hemoglobin (Hb) species. These mAb were specific for either Hb A, Hb F, Hb S or Hb C. Based on these antibodies, which were directly conjugated with either fluorochromes or an enzyme (horseradish peroxidase), we developed immunoassays for determining the Hb profile in the peripheral blood; an enzyme-linked immunosorbent assay (ELISA) for determining the absolute and relative quantities of various Hb species and one-step immunolabeling for fluorescence microscopic and flow cytometric analyses of the distribution of RBC with respect to their Hb types. We utilized these methods for monitoring the Hb F level and the percentage of Hb F-containing cells in patients with sickle cell anemia undergoing treatment with hydroxyurea.
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PMID:Monoclonal antibody-based methods for quantitation of hemoglobins: application to evaluating patients with sickle cell anemia treated with hydroxyurea. 869 26

We have tested the hypothesis that dense cell formation in sickle cell disease is associated with increased binding of calpromotin to the membrane, an event that occurs during the activation of calcium-dependent potassium transport. By SDS polyacrylamide gel electrophoresis, we found that sickle cell membranes contained more calpromotin than did normal membranes when stained with Coomassie brilliant blue or when transferred to nitrocellulose paper and immunostained with horseradish peroxidase. Also, the membranes from dense sickle cells contained significantly (P = 0.00055) higher levels of calpromotin, 2.62+/-1.59 microg/mg membrane protein, compared to light sickle cells, 1.40+/-0.70 microg/mg membrane protein, when measured by an enzyme-linked immunosorbent assay. The ratio of calpromotin associated with dense cell membranes to light cell membranes was significantly greater than 1.0 (P < 0.00005). Transmission electron micrographs of immunogold-labelled membranes supported the increase in calpromotin binding in dense sickle cell membranes. In addition, the immunogold probe demonstrated clustering, which was not observed in light sickle cell membranes nor in normal membranes. Finally, we incubated HbSS cells in vitro using a repetitive deoxygenation/ reoxygenation procedure to produce dense cells and then measured the levels of calpromotin associated with their membranes. As expected, the levels of calpromotin bound to the membrane doubled during the procedure relative to the basal levels at the beginning of the incubation. The correlation coefficient, calculated between the increase in dense cell formation and the increase in calpromotin associated with the membrane, was statistically significant (P = 0.038). The results demonstrate that an increase in calpromotin binding to the membrane is associated with dense cell formation presumably through the activation of the calcium-dependent potassium channel.
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PMID:Calpromotin, a cytoplasmic protein, is associated with the formation of dense cells in sickle cell anemia. 932 51

In three species of plethodontid salamanders (Plethodon jordani, Hydromantes italicus, and Bolitoglossa subpalmata), primary and secondary somatosensory pathways were investigated by means of tract-tracing in vivo and in vitro using biocytin, horseradish peroxidase, and neurobiotin. Afferent sensory fibers of cranial nerves V, VII, and X and the brachial nerve run in the dorsal funiculus of the medulla oblongata and spinal cord. Fibers ascend to the level of, but do not enter, the cerebellum. In the caudal medulla oblongata, sensory tracts of the cranial nerves descend in a dorsal and a dorsolateral bundle and reach the level of the fourth spinal nerve. Two bundles are likewise formed by spinal afferent fibers, which descend to the level of the seventh spinal nerve. Secondary somatosensory projections ascend in contralateral ventral, contralateral lateral, and ipsilateral lateral tracts, the latter two corresponding to the spinal lemniscal tracts of Herrick. These tracts reach the cerebellum, mesencephalic, and diencephalic targets (tegmentum, torus, tectum, tuberculum posterius, pretectum, and ventral thalamus) ipsi- and contra-laterally. The projection to the tectum is confined to fiber layer 4. Fibers of the ascending tracts cross in the cerebellar and tectal commissure. Our study demonstrates that the ascending secondary somatosensory pathways of plethodontid salamanders differ remarkably from those of other amphibians.
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PMID:Primary and secondary somatosensory projections in direct-developing plethodontid salamanders. 983 56


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