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  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimie 67 (1985), S. 663-668 
    ISSN: 0300-9084
    Keywords: Mossbauer spectroscopy ; fer de stockage ; ferritin-hemosiderin ; ferritine-hemosiderine ; foie ; hyperfine interactions ; interactions hyperfines ; iron overload ; liver ; spectroscopie Mossbauer ; storage iron ; superparamagnetism ; superparamagnetisme ; surcharge en fer
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to evaluate the role of gadolinium-DOTA enhanced MRI in the management of painful osseous crises in children with sickle cell anemia (SCA), nine children with SCA underwent MRI, bone scans and ultrasonographic studies during 11 osseous crises. Imaging findings were compared with the final diagnosis: three acute osteomyelitis (AO) and 16 acute infarcts (AI). MRI could not differentiate AO from AI. The appearance of severe AI was very misleading and was similar to the usual appearance of AO, including soft tissue changes, periosteal reaction and patterns of enhancement. Gadolinium-DOTA enhanced MRI was useful for determining the anatomic site and extent of AO or AI and for distinguishing between necrotic material, fluid collection and vascularized inflammatory tissue. It can also help to guide the aspiration of intraosseous, subperiosteal and soft tissue fluid collections.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary β-Thalassemia, a heterogeneous group of human anemias affecting the expression of β-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the β-like globin genes, combinations of which are assigned as haplotypes. Several haplotypes appear to be strongly linked with the molecular defects causing thalassemia in Greek and Italian patients (Orkin et al. 1982). We describe here haplotypes from 40 Algerian β-thalassemic patients and eight normals determined by restriction endonuclease mapping at seven polymorphic sites. Four haplotypes previously unreported were observed in these thalassemic patients; this argues the existence in this population of undescribed β-thalassemia alleles. The knowledge of the haplotypes in thalassemic families could be used for prenatal diagnosis of homozygote forms.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 338-340 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Homozygous β-thalassemia intermedia (TI) differs from thalassemia major (TM) in being less severe clinically. Associated α-thalassemia could account for the TI phenotype by reducing the α/non-α chain imbalance. We have analyzed the α loci of 9 TI and 11 TM patients by restriction endonuclease mapping. All the TM and 7 of the TI patients have the normal complement of four α-globin genes (αα/αα). One TI patient has three α-globin genes (αα/-α), and another TI patient, has five α genes (αα/ααα).
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Sickle cell disease ; Cerebrovascular accident ; stroke ; Transfusion ; Meningitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This study presents a series of 34 sickle cell patients with one or more cerebrovascular accidents (CVA). Risk factors were studied in a subgroup of 19 patients whose clinical and biological characteristics were compared to those of a group of 444 sickle cell patients without CVA. The only risk factor discovered was a past history of purulent meningitis, which was significantly more frequent in sickle cell patients than in those without CVA (P〈0.0001). No biological or radiological factor affecting the risk of recurrence was found. The risk of recurrence, neurological defects or death after subsequent CVA justify long-term transfusion treatment in patients presenting with a second CVA. However our study shows that 10 patients who were not transfused after their first CVA had no recurrences, (median follow up = 7.9 years; 2–18 years), providing a basis for discussion on the indications of long-term transfusion therapy for sickle cell patients presenting with their first CVA.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Neocytopheresis ; Thalassaemia ; Transfusion ; Anaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract At present the treatment of thalassaemia major consists of regular blood transfusions coupled with chelation therapy using deferoxamine. A complementary approach to the problem is the use of blood units enriched with young red cells (neocytes), which reduce the transfusional frequency and thereby diminish the risk of iron overload. Young red cell units were collected from blood from 60 volunteer donors using a cell separator (IBM 2997). Donors' blood was anticoagulated and the young red cell harvesting carried out over 4 h at a constant rotor speed of 500 rpm. Three biological criteria were used to evaluate young red cell quality: the number of reticulocytes, the pyruvate kinase activity and the mean corpuscular volume, all of which show an enrichment of young red cells as compared to standard donor units. The 51Cr young red cell survival in four normal donors and in two splenectomized patients showed an increased red cell half-life compared to the same study performed with standard blood units. Blood consumption was diminished significantly when the two patients were transfused with young red cell units. It must be emphasized that, despite the high cost of this blood product, the efficiency of this transfusion technique, by reducing blood consumption, represents important progress and a hopeful treatment for chronic anaemia.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Desferrioxamine ; Iron ; Chelation therapy ; Thalassaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Desferrioxamine (DFO) plus ferrioxamine (FO) variations and alterations in plasma and urinary iron (Fe) levels were investigated in eight children with thalassaemia major during a 12-h s.c. DFO infusion at a dose of 40 mg/kg body weight. During the infusion, blood samples were regularly taken and total urine was also regularly collected in all patients. In the plasma, a mean DFO plus FO plateau level of 9 mg/l was reached after 4 h and remained steady in the subsequent 8 h. At 30 h the mean DFO plus FO concentration in plasma was still 4.5 mg/l. At 30 h, the urinary excretion ranged from 15% to 70% of the infused dose (mean: 42%). In plasma, the Fe concentration increased on average by 20% (range 10%–30%), remained steady during the DFO infusion, then returned to the basal level after 16–24 h. Urinary Fe excretion started early and still persisted 18 h after the infusion. The amount excreted at 30 h ranged from 5 to 27 mg (mean: 13.6 mg). This study emphasizes the delay in obtaining a DFO plus FO plateau in plasma, the important interindividual variations and the slow decrease of the drug after the end of the infusion. It points out the delay and the values of the urinary Fe excretion compared to the plasmatic and urinary drug variations.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 384-388 
    ISSN: 1432-1076
    Keywords: Dyserythropoietic anaemia type I ; Polysyndactyly ; Hypoplastic phalanges
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation. Conclusion The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 384-388 
    ISSN: 1432-1076
    Keywords: Key words Dyserythropoietic ; anaemia type I ; Polysyndactyly ; Hypoplastic phalanges
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation. Conclusion The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
    Type of Medium: Electronic Resource
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