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  • 1
    Keywords: Germany ; THERAPY ; FOLLOW-UP ; NETWORK ; DISEASE ; DISEASES ; NEW-YORK ; GENE ; HYBRIDIZATION ; SAMPLE ; SAMPLES ; TIME ; PATIENT ; COMPLEX ; COMPLEXES ; MARKER ; chromosome ; bone marrow ; BONE-MARROW ; early detection ; IN-SITU ; AMPLIFICATION ; COMPARATIVE GENOMIC HYBRIDIZATION ; CHROMOSOMAL-ABERRATIONS ; leukemia ; ABERRATIONS ; ACUTE LYMPHOBLASTIC-LEUKEMIA ; IN-SITU HYBRIDIZATION ; INSTABILITY ; FAILURE ; FLUORESCENCE ; fluorescence in situ hybridization ; MANAGEMENT ; ACUTE MYELOGENOUS LEUKEMIA ; in situ hybridization ; SINGLE ; DISORDERS ; TRANSITION ; CHROMOSOMAL INSTABILITY ; USA ; genomic ; FANCONI-ANEMIA ; congenital ; aberration ; chromosomal aberration ; AML1 ; congenital neutropenia ; inherited bone marrow failure syndromes ; leukemogenesis ; NEUTROPENIA ; SHWACHMAN-DIAMOND-SYNDROME
    Abstract: As chromosomal instability may contribute to leukemogenesis in patients with congenital bone marrow failure (CBMF) disorders, it was the aim of this study to characterize chromosomally aberrant clones that arise during the clinical course of disease by means of R-banding and fluorescence in situ hybridization (FISH) analyses. In addition, multicolor-FISH and array-comparative genomic hybridization (CGH) were applied to characterize clonal chromosome aberrations in more detail. Between January 2004 and December 2005, we prospectively analyzed 90 samples of 73 patients with proven or suspected CBMF disorders enrolled in a German Study Network of CBMF diseases. Clonal aberrations could be identified in four of 73 patients examined. In one child with congenital thrombocytopenia, Jacobsen syndrome [del(11)(q24)c] was diagnosed, and thus a CBMF could be excluded. In a girl with Shwachman-Diamond syndrome, two independent clones, one with an isochromosome i(7)(q10), another with a complex aberrant karyotype, were identified. Simultaneously, transition into a myelodysplastic syndrome (MDS) occurred. The brother, who was also afflicted with Shwachman-Diamond syndrome, showed an isochromosome i(7q) as a single aberration. In the fourth patient with severe congenital neutropenia, an add(21)(q22) marker containing a low-level amplification of the AML1 gene was identified at the time point of transition into acute myelogenous leukemia (AML). In summary, we suggest that follow-up of patients with CBMF using chromosome and FISH analyses will be helpful for the early detection of transition into MDS or AML and thus should be an integral part of the clinical management of these patients
    Type of Publication: Journal article published
    PubMed ID: 17653548
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  • 2
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS); 20120613-20120616; Leipzig; DOCSA.02.06 /20120604/
    Publication Date: 2012-06-05
    Keywords: brain tumors ; childhood ; quality of life ; Hirntumoren ; Kindesalter ; Lebensqualität ; ddc: 610
    Language: English
    Type: conferenceObject
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  • 3
    ISSN: 1432-1076
    Keywords: Chronic granulomatous disease ; Recombinant human granulocyte-macrophage colony stimulating factor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Variant X-linked chronic granulomatous disease (CGD) is characterised by a decreased but still measurable respiratory burst and cytochrome b content of phagocytes resulting in a clinically milder form of the disease. We examined the in vivo effect of recombinant human granulocyte-macrophage colony stimulating factor (rh-GM-CSF) on the neutrophil functions of a patient treated for liver abscess. The number of white blood cells was markedly increased at the highest dose of GM-CSF injected (30 μg/kg per day). This was mainly due to a large increase in eosinophils and to a lesser extent in neutrophils. No change in the deficient neutrophil respiratory burst nitroblue tetrazolium (NBT)-reduction, superoxide (O 2 − )-production and cytochrome b content was observed during 6 weeks of therapy with increasing doses of GM-CSF. No significant clinical improvement of the liver abscess was observed during treatment with GM-CSF.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We prospectively evaluated the clinical relevance of genetic risk factors of thrombosis in 137 paediatric patients with solid tumours or leukaemia/lymphoma. The factor V G1691A (FV-L), the prothrombin G20210A (FII-L) and the homozygous MTHFR variant were examined. In addition, protein C, protein S and antithrombin (AT) deficiency were evaluated in patients with ALL or thrombosis. The inter-group incidence of risk factors and thrombotic events was compared. 73 of the 137 patients had ALL and 64 another form of leukaemia, lymphoma or a solid tumour. They were treated according to the established paediatric tumour protocols ALL-BFM, NHL-BFM, COSS, CWS and others. All patients had central venous lines. No patient received heparin or any other anticoagulant. Endpoints of the study were thrombosis, regular completion of chemotherapy or death. Incidence of mutations in the whole group: FV-L (7.3% heterozygous, 0.7% homozygous); FII-L (2.9% heterozygous, no homozygotes); MTHFR (51.8% heterozygous, 10.9% homozygous). Ten patients (7.3%), 6 with ALL and 4 with solid tumours, developed thrombosis. 4 of the 6 patients with ALL and thrombosis (67%) but only 21% of ALL patients without thrombosis had a genetic risk factor (P 〈 0.013, χ2). No genetic defect was found in the 4 patients with other malignancies and thrombosis,. However, besides a tumour, these patients had additional exogenous risk factors including diabetes insipidus and hemiparesis. Conclusion Genetic mutations appear to be additional risk factors for the development of thrombosis in patients with ALL. In contrast, these mutations do not appear to be relevant risk factors for thrombosis in the small number of children with other malignant diseases reported here. This difference may be due to asparaginase and corticosteroids being used in ALL but not in solid tumour protocols.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0584
    Keywords: Key words Bone marrow stroma ; Myeloid leukemia ; TNF-α ; IL-4 ; Adhesion molecules
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  To study the mechanisms of adhesion of myeloid leukemic cells to bone marrow stroma, we analyzed the interaction of bone marrow stromal fibroblasts with myeloid leukemic cell lines and the modulation of adhesion molecule expression on stromal fibroblasts by TNF-α and IL-4. Like others, we found up-regulation of VCAM-1 and ICAM-1 on fibroblasts with TNF-α treatment, whereby IL-4 acted synergistically with TNF-α. VCAM-1 expression on the cell surface was maximal after 10 h, while ICAM-1 expression increased up to 48 h. All myeloid leukemic cell lines tested (HL-60, K562, TMM, U937, ML-2, PLB-985, THP-1, KG1a) revealed weak adhesion to untreated bone marrow fibroblasts (≤10% bound cells). TNF-α and IL-4 significantly enhanced adhesiveness of fibroblasts to the cell lines PLB-985, THP-1, and ML-2, with a peak between 6 and 10 h of treatment. Adhesiveness to the cell line TMM was increased up to eightfold in a time-dependent manner for up to 48 h. The enhanced binding of ML-2-, THP-1-, and PLB-985 cells to stimulated fibroblasts was due at least partially to the interaction of VLA-4 with VCAM-1. Increased adhesion of TMM cells was impaired neither by antibodies to VLA-4, LFA-1, or Mac-1 nor by antibodies to their counter-receptors VCAM-1 or ICAM-1, suggesting that adhesion molecules distinct from VCAM-1 or ICAM-1 are involved in enhanced adhesiveness of the fibroblasts to myeloid leukemic cells.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 72 (1996), S. 158-165 
    ISSN: 1432-0584
    Keywords: Key words Severe chronic neutropenia (SCN) ; Severe congenital neutropenia ; Kostmann's ; syndrome ; Cyclic neutropenia ; Idiopathic neutropenia ; G-CSF ; Filgrastim ; SCN International Registry (SCNIR)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Severe chronic neutropenia (SCN) include a heterogeneous group of diseases characterized by blood neutrophil counts chronically less than 0.5×109/L. In phase I–III studies in SCN patients, treatment with recombinant human granulocyte colony stimulating factor (r-metHuG-CSF; Filgrastim) resulted in a rise in the absolute neutrophil counts (ANC) to above 1.0×109/L associated with a reduction in bacterial infections. Long-term treatment with filgrastim up to 8 years demonstrate a sustained ANC response, a significant reduction of the need for intravenous antibiotics and a dramatic improvement in the quality of life. In 1994 an international registry for severe chronic neutropenia (SCNIR) was established to improve care for chronic neutropenia and for further understanding the pathophysiology of this rare disease. Three-hundred and ten patients have been enrolled to this registry so far. Worldwide phase I–III studies with filgrastim and SCNIR provide information on 424 patients with severe chronic neutropenia. Adverse events include the development of acute myeloid leukemia in approximately 7% of the patients within the cohort of patients with congenital neutropenia (Kostmann's syndrome) suggesting that congenital neutropenia is a preleukemic syndrome. None of the patients with cyclic of idiopathic neutropenia developed leukemia suggesting that filgrastim is not involved in the development of leukemia.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0584
    Keywords: Key words Thrombopoietin ; Interleukin-11 ; Interleukin-6 ; Thrombocytopenia ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We measured serum levels of thrombopoietin (TPO), interleukin (IL)-11, and IL-6 in 90 different samples from 67 pediatric patients with thrombocytopenia (TP). The cytokine levels were determined by enzyme-linked immunosorbent assays (ELISA), and the biological activity of TPO was measured using a cell line transfected with human c-mpl. In patients with impaired megakaryocytopoiesis, as found in diseases such as aplastic anemia, amegakaryocytic TP, or TP with absent radii, we found TPO levels which were highly elevated compared with normal values (mean=261 AU/ml, n=52, vs. 22 AU/ml in healthy controls). In contrast, patients suffering from idiopathic thrombocytopenic purpura (mean=16 AU/ml, n=31) or platelet function defects (mean=23 AU/ml, n=7) demonstrated normal TPO levels. The biological activity tested in the bioassay correlated well with the ELISA data. However, sera of some patients with amegakaryocytic TP demonstrated a remarkably higher biological activity of TPO than expected from the ELISA data. Within the different groups there was no correlation between platelet counts and TPO levels. Only 27% of all samples had elevated levels of IL-11 (mean=450 pg/ml, n=20). Elevated IL-6 serum levels were detected in only 13% of all samples analyzed (mean=42 pg/ml, n=12). We conclude that megakaryocytopoiesis is regulated mainly by TPO, that it is dependent on the platelet and the megakaryocytic mass, and that IL-11 plays an additional role in supporting the platelet production. IL-6 does not appear to be up-regulated in children with thrombocytopenia.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Research in experimental medicine 162 (1974), S. 17-36 
    ISSN: 1433-8580
    Keywords: Folic acid ; Folic acid nephropathy ; Renal failure ; Distal tubule hyperplasia ; Folsäure ; Folsäure-Nephropathie ; Nierenversagen ; Tubulushyperplasie, distal
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Untersuchungen an insgesamt 169 männlichen Wistarratten führten zu dem Ergebnis, daß wiederholte Injektion von 250 mg Folsäure/kg Körpergewicht in dreiwöchigen Abständen schwere chronische Nierenschäden verursacht. Nach der 4. Folsäure-Injektion tritt infolge herdförmiger Parenchymuntergänge im Rindenbereich eine grobhöckrige Niere auf, die im Verlauf der 48wöchigen Versuche in eine Schrumpfniere übergeht. Mikroskopisch sind Läsionen der Tubuli und des Interstitium vor allem um distale Nephronabschnitte (Partes contortae der Mittelstücke, Verbindungsstücke, Rindensammelrohre) und herdförmige Hauptstückatrophien zu beobachten. Daneben fällt eine erhebliche Vergrößerung aller Mittelstücke im Innenstreifen der Markaußenzone auf. Am Ende der Versuchszeit sind Serum-Harnstoff und -Kreatinin auf das Doppelte der Norm angestiegen, die tägliche Harnmenge hat um das Vierfache des Kontrollwertes zugenommen, die Urinosmolarität ist um 60–77% reduziert, die Versuchstiere verlieren wesentlich mehr Natrium im Harn als Kontrolltiere.
    Notes: Summary Investigations with a total of 169 male Wistar-rats led to the result that repeated injections of 250 mg folic acid per kilogram body weight in intervals of 3 weeks cause severe chronic kidney damages. After the 4th folic acid injection the outer surface of the kidneys is roughly granular due to circumscribed destructions of the parenchyma in the cortical area and turns into contracted kidneys, within the 48 weeks of the test. Lesions of tubules and of the interstice, particularly around distal nephron segments (convoluted portion of distal tubule, initial segment of collecting tubule and cortical collecting tubules) and focal atrophies of proximal tubules can be observed microscopically. Apart from this, a significant enlargement of all straight portions of the distal tubules in the outer medulla can be noticed. At the end of the 48 weeks serum urea and serum creatinine are twice as high as standard, the daily amount of urine is 4 times higher than the control value, the osmolarity of urine is reduced by 60–77%, experimental animals lose essentially more sodium with the urine than control animals.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1569-8041
    Keywords: Burkitt's lymphoma ; c-myc ; PCR ; translocations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: Burkitt's lymphoma (BL) and B-ALL are characterized bychromosomal translocations juxtaposing the c-myc gene on chromosome 8to one of the immunoglobulin loci. Translocations involving the immunoglobulinheavy chain (IgH) on chromosome 14 are found in approximately75%–90% of these tumors. The breakpoint regions arelocated over a wide range on both chromosomes. Patients and methods: To detect the translocations, we developed aPCR method to generate long products. After extraction of genomic DNA (QiaAmpSystem,Qiagen, Hilden, Germany), DNA was amplified using a mixture of Taq andPwo polymerases (Boehringer Mannheim, Germany). Several primer pairs from theSµ, JH, CH1 and the Cα regions on IgH and from exon 1 and intron 1of the c-myc gene were tested in each patient. Results: Lymphoma cells from 20 children with Burkitt's lymphoma andB-ALL characterized by FAB-L3 morphology were examined. In 11/20 patients,recombinations between chromosomes 8 and 14 could be detected with our primerpairs. PCR products from 800 to 3700 bp in length were obtained reproducibly.After amplification, the products were characterized by restriction enzymedigestion, hybridization, and in part by direct sequencing. Conclusions: This PCR-based method will allow us (1) to determinethe localization of chromosomal breakpoints in primary tumor material, (2) toinvestigate whether distinct breakpoints are associated with treatmentoutcome, and (3) to detect the presence of minimal residual tumor cells duringor after therapy.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1573-2592
    Keywords: Combined varied immunodeficiency ; interleukin-2 ; T-cell lymphocytes ; B-cell lymphocytes ; mitogen response
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the ability of phytohemagglutinin (PHA) and two anti-T-cell monoclonal antibodies, OKT3 and Pan T2, to induce interleukin-2 (IL2) production and proliferation in peripheral blood lymphocytes (PBL) from 14 patients with combined varied immunodeficiency (CVI). The median values of endogenous IL2 produced by mitogen-stimulated PBL was significantly lower in patients than controls irrespective of the mitogen used. The patients, taken as a group, had a significantly decreasedin vitro PBL response to mitogen stimulation when compared to controls. With the addition of a highly purified human IL2 preparation, the proliferative response in the majority of patients was significantly improved with all mitogens. Three patient groups could be distinguished: Group A (3/14) had full restoration of proliferative response with the addition of IL2, Group B (5/14) had partial restoration, and Group C (6/14) had no significant response. The monoclonal antibody, Pan T2, recognized a T-cell proliferative defect in 5 of 14 patients which neither PHA nor OKT3 recognized. This was not significantly corrected by the addition of IL2. This T-cell proliferative defect correlated with the lack of B-cell proliferation and immunoglobulin production in response to B-cell mitogens in three-fourths of the patients assayed. These data show that CVI patients are a heterogeneous group but have in common a decreasedin vitro production of IL2 resulting in a proliferative defect which is correctable at least in part,in vitro, in the majority by the addition of purified IL2.
    Type of Medium: Electronic Resource
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