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  • 1
    Electronic Resource
    Electronic Resource
    Porphyrin synthesis and metabolism in iron deficiency anaemia: II. in vitro studies (1968)
    Springer
    Annals of hematology 17 (1968), S. 14-19 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Autoren berichtenüber die Ergebnisse von In-vitro-Untersuchungen über die Höhe der Porphobilinogen- und der Porphyrinsynthese in menschlichen Erythrozyten mit Eisenmangel. Es zeigte sich, 1. daß die Synthese von Porphobilinogen aus δ-Aminolacvulinsäure praktisch normal ist; 2. daß in Erythrozyten mit Eisenmangel die Aminolaevulinsäure dem gleichen Stoffwechselweg folgt wie in normalen roten Blutkörperchen; 3. daß die Synthese von Porphyrin aus Porphobilinogen zum Teil gehemmt und die Menge des gebildeten Porphyrins erheblich verringert ist; 4. daß die Gabe von Eisen die Höbe der Porphyrinsynthese aus Porphobilinogen normalisiert ohne die Synthese diese Pyrolls zu stören.
    Notes: Summary The results ofin vitro studies on the rate of porphobilinogen and porphyrin synthesis in iron deficient human red blood cells are reported. It was found: 1. that the synthesis of porphobilinogen from δ-aminolaevulic acid is virtually normal; 2. that in iron deficient red blood cells δ-aminolaevulic acid follows the same metabolic paths as in normal red blood cells; 3. that the synthesis of porphyrin from porphobilinogen is partly inhibited, the amount of porphyrin formed being appreciably decreased; 4. that the administration of iron normalises the rate of porphyrin synthesis from porphobilinogen without interfering with the synthesis of this pyrrole.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01637286
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  • 2
    Electronic Resource
    Electronic Resource
    The quantitative determination of iron kinetics and hemoglobin synthesis in anemia of cirrhosis studied with59Fe (1964)
    Springer
    Annals of hematology 10 (1964), S. 120-135 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 10 gesunden Menschen und 10 Patienten mit Leberzirrhose wurde der Serumeisen-Umsatz, die Ferrokinetik im Organismus, die Hämoglobinsynthese, die Halbwertzeit der Erythrozyten und die mittlere Reifungszeit des Erythrons mit Hilfe von59Fe untersucht. Der Eisenumsatz und die Hämoglobinsynthese waren bei der Leberzirrhose zwar signifikant erhöht, jedoch nicht so ausreichend, daß dadurch die Reduktion der Erythrozytenlebensdauer kompensiert wird. Die mittlere Reifungszeit des Erythrons war normal. Nach den vorliegenden Befunden konnten zwei Faktoren für die Anämie bei Leberzirrhose verantwortlich gemacht werden: die Hämolyse und die relative Knochenmarksdepression. Mit Hilfe der angewandten Methodik war es möglich, die Rolle dieser Faktoren bei allen untersuchten Patienten quantitativ aufzudecken.
    Notes: Summary Turnover of plasma iron, kinetics of iron through the body compartements, hemoglobin synthesis, red cell half life and mean effective erythron maturation time were studied, by using Fe59, in 10 normal subjects and 10 cirrhotic patients. Iron turnover and hemoglobin synthesis were significantly raised, but not sufficiently to compensate the red cell life span reduction. Mean effective erythron maturation time was normal. In conclusion two factor were responsible for the anemia: the hemolysis and a relative marrow depression. By the method used it was possible to discriminate quantitatively their importance in all the subjects investigated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01630796
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  • 3
    Electronic Resource
    Electronic Resource
    Porphyrin synthesis and metabolism in iron deficiency anaemia. I. In-vivo-studies (1968)
    Springer
    Annals of hematology 16 (1968), S. 333-341 
    Details
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Ergebnisse von Untersuchungen zur Feststellung, ob die Höhe der Protoporphyrinsynthese aus δ-Aminolävulinsäure bei Eisenmangelanämie geringer ist und ob Eisen für die Synthese von Zwischenprodukten im Porphyrinstoffwechsel wesentlich ist, werden berichtet. Durch das Messen von δ-Aminolävulinsäure im Harn, Porphobilinogen-, Koproporphyrin- und Uroporphyrinausscheidung im Harn und die fäkale Ausscheidung von Koproporphyrin und Protoporphyrin wurde ein Absinken der Höhe der Porphyrinsynthese bei Fällen von idiopathischer hypochromer Anämie nachgewiesen. Der relative Anstieg in der Porphobilinogenausscheidung im Harn deutet auf eine Teilblockierung der Porphyrinsynthese von Porphobilinogen. Eisenbehandlung normalisiert den Porphyrinstoffwechsel.
    Notes: Summary The results of studies done to ascertain whether the rate of protoporphyrin synthesis from δ-aminolaevulic acid is decreased in iron deficiency anaemia and whether iron is essential for the synthesis of the intermediate compounds in the porphyrin metabolism are reported. By measuring the urinary δ-amino-laevulic acid, porphobilinogen, coproporphyrin and uroporphyrin excretion and the faecal coproporphyrin and protoporphyrin excretion a decrease in the rate of porphyrin synthesis was demonstrated in cases of idiopathic hypochromic anaemia. The relative increase in the urinary porphobilinogen excretion points to a partial block of porphyrin synthesis from porphobilinogen. Iron treatment normalises the porphyrin metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01632077
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  • 4
    Electronic Resource
    Electronic Resource
    G"γ and A"γ globin chains separation and quantitation by isoelectric focusing
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 87 (1979), S. 1-8 
    Details
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0006-291X(79)91639-5
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  • 5
    Electronic Resource
    Electronic Resource
    Electrophoretic separation of ^Aγ and ^Gγ human globin chains in nonidet P-40
    Amsterdam : Elsevier
    Clinica Chimica Acta 99 (1979), S. 7-11 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(79)90133-5
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  • 6
    Electronic Resource
    Electronic Resource
    Hb J sicilia: P 65 (E9) Lys-〉Asn, a beta homologue of Hb zambia
    Amsterdam : Elsevier
    FEBS Letters 39 (1974), S. 200-204 
    Details
    ISSN: 0014-5793
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-5793(74)80050-5
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  • 7
    Electronic Resource
    Electronic Resource
    Heterogeneity of δ, β-Thalassemia and Hereditary Persistence of Hb F in the Mediterranean Area (1985)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 445 (1985), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1985.tb17186.x
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  • 8
    Electronic Resource
    Electronic Resource
    Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine → threonine at position 75 (E 19) of the γ chain (1976)
    Springer
    Human genetics 〈Berlin〉 32 (1976), S. 305-313 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the γ chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for β thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same γ75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a γ gene nonallelic with those coding for Aγ and Gγ chains.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295821
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  • 9
    Electronic Resource
    Electronic Resource
    Genetic analysis of p53 and RB1 tumor-suppressor genes in blast crisis of chronic myeloid leukemia (1994)
    Springer
    Annals of hematology 68 (1994), S. 3-7 
    Details
    ISSN: 1432-0584
    Keywords: Chronic myeloid leukemia ; Tumor suppressor genes ; Blastic transformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have investigated the involvement of the p53 and RB1 tumor-suppressor genes in 26 cases of chronic myeloid leukemia (CML) blast crisis, including 17 myeloid, eight lymphoid, and one megakaryoblastic crisis. The presence of p53 mutations in exons 5 through 9 was tested by the PCR-single-strand conformation polymorphism (SSCP) assay, followed by PCR-direct sequencing; in addition, loss of heterozygosity (LOH) at 17p13, the site of the p53 gene, was assayed by Southern blot. Given the variability of the mechanisms of inactivation of the RB1 gene in human tumors, a combination of Southern blot and mutational analysis by PCR-SSCP was used. p53 mutations were restricted to one case of myeloid blast crisis, showing a CGC→TGC (Arg→Cys) mutation at codon 283; two additional cases displayed LOH at 17p13 in the absence of p53 mutations. No molecular lesions of the RB1 gene were detected in any of the cases analyzed. These data indicate that inactivation of p53 and RB1 is a rare event in the molecular pathogenesis of CML acute transformation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01695912
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  • 10
    Electronic Resource
    Electronic Resource
    Molecular pathology of AIDS-related lymphomas (1994)
    Springer
    Annals of hematology 69 (1994), S. 281-290 
    Details
    ISSN: 1432-0584
    Keywords: AIDS ; Non-Hodgkin lymphoma Oncogenes ; Tumor suppressor genes ; Epstein-Barr virus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A high frequency of lymphoma in human immunodeficiency virus-infected individuals has been reported since the outbreak of the acquired immunodeficiency syndrome (AIDS) epidemic in 1982. AIDS-associated non-Hodgkin's lymphoma (AIDS-NHL) is almost invariably derived from B cells and is classified as high- or intermediate-grade NHL, according to the working formulation. Two main histologic types are recognized, including small noncleaved cell lymphoma (SNCCL) and diffuse large cell lymphoma (DLCL). Pre-existing host factors putatively involved in lymphoma development include disrupted immunosurveillance, deregulated cytokine production, chronic antigen stimulation, and infection by Epstein-Barr virus (EBV). These alterations are associated with the development of multiple oligoclonal expansions which correspond to the clinical phase known as persistent generalized lymphadenopathy (PGL). The appearance of a true AIDS-NHL is characterized by the presence of a monoclonal B-cell population displaying several genetic lesions, including monoclonal EBV infection, c-MYC and BCL-6 rearrangements, RAS mutations, p53 inactivation, and 6q deletions. These genetic lesions cluster into two distinct molecular pathways, which specifically associate with the different histologic subtypes of AIDS-NHL, i.e., AIDS-SNCCL and AIDS-DLCL. The presence of distinct genetic pathways for AIDS-SNCCL and AIDS-DLCL correlate with a number of clinical features which distinguish these two groups of tumors, including differences in the age of onset, CD4 counts at the time of presentation, time elapsed since HIV infection, and clinical outcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01696556
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