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  • 1
    Electronic Resource
    Electronic Resource
    Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 784-793 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS) or maternal (AS) loci D15S9 to D15S12. Most of the non-deletion PWS patients and a small number of non-deletion AS patients have a maternal or paternal uniparental disomy (UPD)15, respectively. Other chromosome 15 rearrangements and a few smaller atypical deletions, some of the latter being associated with an abnormal methylation pattern, are rarely found. Molecular and fluorescence in situ hybridization (FISH) analysis have both been used to diagnose PWS and AS. Here, we have evaluated, in a typical routine cytogenetic laboratory setting, the efficiency of a diagnostic strategy that starts with a FISH deletion assay using Alu-PCR (polymerase chain reaction)-amplified 1315S10-positive yeast artificial chromosome (YAC) 273A2. We performed FISH in 77 patients suspected of having PWS (n = 66) or AS (n = 11) and compared the results with those from classical cytogenetics and wherever possible with those from DNA analysis. A FISH deletion was found in 16/66 patients from the PWS group and in 3/11 patients from the AS group. One example of a centromere 15 co-hybridization performed in order to exclude cryptic translocations or inversions is given. Of the PWS patients, 14 fulfilled Holm's criteria, but two did not. DNA analysis confirmed the commmon deletion in all patients screened by the D15S63 methylation test and in restriction fragment length polymorphism dosage blots. In 3/58 non-deletion patients, other chromosomal aberrations were found. Of the non-deleted group, 27 subjects (24 PWS, 3 AS) were tested molecularly, and three patients with an uniparental methylation pattern were found in the PWS group. The other 24/27 subjects had neither a FISH deletion nor uniparental methylation, but two had other cytogenetic aberrations. Given that cytogenetic analysis is indispensable in most patients, we find that the FISH deletion assay with YAC 273A2 is an efficient first step for stepwise diagnostic testing and mutation-type analysis of patients suspected of having PWS or AS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346190
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  • 2
    Electronic Resource
    Electronic Resource
    Expression of CD69 on T-cells from HIV-1-infected children and adolescents increases with increasing viral load (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 638-644 
    Details
    ISSN: 1432-1076
    Keywords: Key words HIV-1 ; T-cells ; CD69 ; Activation ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We evaluated the use of a whole-blood assay that measures spontaneous and activation-induced CD69 expression on peripheral blood T-cells in vitro for assessment of T-cell function in HIV-1-infected paediatric patients. Heparinized venous blood from 28 HIV-1 positive children and adolescents and 23 healthy controls was incubated for 4 h with or without 5 μg/ml phytohaemagglutinin (PHA). Thereafter, analysis of CD69 expression on CD4+ and CD8+ T-cells was done by flow cytometry; simultaneously we determined CD4+ T-cell counts and plasma HIV-1 viral load. Neither spontaneous nor PHA-induced CD69 expression differed significantly between HIV-1 positive patients and healthy controls. However, T-cells from HIV-1 positive patients with plasma HIV-1 viral load levels above 70 × 103 copies/ml showed a higher spontaneous CD69 expression than T-cells from patients with lower plasma viral load levels in different stages of the disease. Antiretroviral treatment in four patients reduced spontaneous CD69 expression in CD4+ T-cells and PHA-induced CD69 expression in CD4+ and CD8+ T-cells significantly after 8 weeks of therapy. Conclusion Spontaneous and activation-induced expression of the early (activation) antigen CD69 on peripheral blood T-cells does not distinguish HIV-1 positive patients from HIV-1 negative healthy controls and is not correlated with peripheral blood CD4+ T-cell counts. This test may not be a reliable marker for functional T-cell deficiency during early stages of HIV disease. Increased spontaneous as well as PHA-induced CD69 expression on T-cells from HIV-1-infected children and adolescents in vitro may rather reflect HIV-induced pre-activation of T-cells in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051167
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  • 3
    Electronic Resource
    Electronic Resource
    Mechanisms of resistance to methotrexate in childhood acute lymphoblastic leukemia: circumvention of thymidylate synthase inhibition (1999)
    Springer
    Journal of cancer research and clinical oncology 125 (1999), S. 513-519 
    Details
    ISSN: 1432-1335
    Keywords: Key words Acute lymphoblastic leukemia ; Methotrexate polyglutamates ; Thymidylate synthase ; Salvage pathway ; Relapse
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: In about 25% of patients suffering from acute lymphoblastic leukemia (ALL) treatment failures occur that are most likely due to development of resistance to methotrexate (MTX). Blasts from patients with ALL were evaluated for MTX uptake, formation of long-chain MTX polyglutamates (MTX-Glu5+6), cytotoxicity and thymidylate synthase inhibition by MTX and compared to blasts from patients with acute myelogenous leukemia (AML). Methods: Radioactively labeled MTX-Glu n were analyzed by means of HPLC. Thymidylate synthase activity was measured by a tritium-release assay. Cytotoxicity was determined by trypan blue exclusion. Results: In most ALL blasts (n = 9) large amounts of MTX-Glu5+6 (1.06–7.03 pmol/107cells) and high cytotoxicity (43.5%–92.7%) were found, while in others small amounts of MTX-Glu5+6 (0.0–0.39 pmol/107cells) caused only weak cytotoxicity (6.0%–27.9%) (n = 5, 2 relapsed patients). Resistance to MTX in blasts from AML patients (n = 5) was also caused by reduced synthesis of MTX-Glu5+6 (0.0–0.42 pmol/107cells). In contrast, some ALL blasts (n = 7, 4 relapsed patients) were able to survive MTX treatment despite large amounts of MTX-Glu5+6 (1.5–5.05 pmol/107cells) and extensive thymidylate synthase inhibition. Conclusions: Since the majority of ALL patients were examined at first diagnosis, an inherent mechanism of resistance seems most likely. We propose a mechanism based on the switch of thymidylate synthesis to the salvage pathway.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004320050310
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  • 4
    Electronic Resource
    Electronic Resource
    HLA-DP antibodies in patients awaiting renal transplantation (1995)
    Springer
    Transplant international 8 (1995), S. 180-184 
    Details
    ISSN: 1432-2277
    Keywords: HLA-DP antibodies ; kidney transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sera from 505 patients awaiting renal transplantation with known panel-reactive cytotoxic antibody (PRA) status were tested for HLA-DP antibodies of the IgG class by means of the monoclonal antibody immobilization of leukocyte antigens (MAILA) technique. The overall incidence of HLA-DP antibodies was 7.3%. A positive HLA-DP antibody status correlated only weakly (r=0.23) with a positive cytotoxic antibody status. After retrospective analysis, patients with HLA-DP antibodies prior to retransplantation revealed a significantly (P〈0.025) higher graft function rate than HLA-DP-negative patients. One patient was found to possess IgG HLA-DP autoantibodies prior to transplantation; thus far, his graft has been functioning for more than 2 years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00336534
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  • 5
    Electronic Resource
    Electronic Resource
    Tacrolimus and cyclosporine efficacy in high-risk kidney transplantation (1998)
    Springer
    Transplant international 11 (1998), S. S73 
    Details
    ISSN: 1432-2277
    Keywords: Key words Tacrolimus ; Cyclosporine ; Kidney transplantation ; High risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The efficacy and safety of tacrolimus- and cyclosporine-based immunosuppressive regimens were compared in a prospectively defined subgroup of kidney transplant recipients from the European, open, multicentre, 2 : 1 randomised, parallel group study. Patients were stratified as high risk for immunological events if they had a panel-reactive antibodies grade greater than 80 % and/or a previous transplant functional for less than 1 year. The primary efficacy variables evaluated were the incidence of acute rejection, steroid usage and patient and graft survival. Safety was assessed based on adverse events and laboratory evaluations. At 1 year, the tacrolimus group (n = 22) had a lower incidence of biopsy-proven acute rejection (31.8 %) and a higher graft survival (86.0 %) than the 11 patients in the cyclosporine group (54.5 % and 72.0 %, respectively). The frequencies of adverse events were similar between the two groups. The tacrolimus regimen appears more beneficial for high risk patients than cyclosporine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014036
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  • 6
    Electronic Resource
    Electronic Resource
    Magnetresonanztomographie ohne und mit Gadolinium-DTPA zur Beurteilung von Nierentransplantaten (1997)
    Springer
    Der Radiologe 37 (1997), S. 225-232 
    Details
    ISSN: 1432-2102
    Keywords: Schlüsselwörter Magnetresonanztomographie ; Nierentransplantate ; Kontrastmittel ; Key words MR imaging ; Renal allografts ; Contrast medium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Purpose: To determine the value of MR imaging in differentiating the various causes of human renal allograft dysfunction. Methods: A total of 123 human renal allografts (normal n = 20, acute rejection n = 57, acute tubular necrosis n = 14, interstitial fibrosis n = 11, chronic allograft glomerulopathy n = 11, cyclosporine nephrotoxicity n = 3, cortical necrosis n = 7) were investigated by means of MR imaging. Axial T1-weighted spin-echo images and coronal T1-weighted gradient-echo images were obtained before and after Gd-DTPA injection. Diagnostic parameters included corticomedullary contrast and allograft size and shape on the pre-contrast sequences. Results: None of the diagnostic parameters used could differentiate among the various diagnostic groups. Diagnosis of cortical necrosis could be made only on post-contrast scans. Contrast-enhanced scans were superior to pre-contrast images in detection of focal allograft lesions. Otherwise, contrast-enhanced scans did not provide any more information than pre-contrast studies. Spin-echo and gradient-echo sequences displayed the same diagnostic value. Conclusions: MR imaging has a limited value in differentiating the various causes of renal allograft dysfunction.
    Notes: Zusammenfassung Um den Stellenwert der MRT bei der Klärung der Fehlfunktion von Nierentransplantaten zu untersuchen, wurden 123 menschliche Nierentransplantate (unauffällig: n = 20, akute Rejektion: n = 57, akute tubuläre Nekrose: n = 14, interstitielle Fibrose: n = 11, Transplantatglomerulopathie: n = 11, Cyclosporinschaden: n = 3, kortikale Nekrose: n = 7) MR-tomographiert. An einem 1,5-T-Gerät wurden axiale T1-gewichtete Spinecho- und koronare T1-gewichtete Gradientenechoaufnahmen vor und nach Gabe von Gd-DTPA akquiriert. Als Beurteilungskriterien wurden der kortikomedulläre Kontrast sowie die Größe und Form des Transplantatorganes in der Nativuntersuchung herangezogen. Keines der Kriterien ermöglichte die Differenzierung der verschiedenen Diagnosegruppen. Abgesehen von der kortikalen Nekrose, die nur anhand der kontrastmittelunterstützten Sequenzen erkennbar war, lieferte die Gd-DTPA-Applikationen für die Differenzierung der verschiedenen parenchymalen Komplikationen keine Zusatzinformationen. Beim Nachweis fokaler Parenchymläsionen war die Kontrastmittelserie der Nativuntersuchungen überlegen. Die Spinecho- und Gradientenechoaufnahmen führten zu ähnlichen Resultaten. Schlußfolgernd kann davon ausgegangen werden, daß die statische MRT bei der Klärung der Fehlfunktion einer Transplantatniere eine untergeordnete Rolle spielt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001170050203
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  • 7
    Electronic Resource
    Electronic Resource
    Detection of99Tc by accelerator mass spectrometry: Preliminary investigations (1998)
    Springer
    Journal of radioanalytical and nuclear chemistry 234 (1998), S. 125-129 
    Details
    ISSN: 1588-2780
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Energy, Environment Protection, Nuclear Power Engineering
    Notes: Abstract Accelerator mass spectrometry (AMS) is an established technique for the detection of long-lived radionuclides at environmental levels. At LLNL, planned facility upgrades and advances in detection techniques are allowing us to explore the applicability of AMS to isotopes not previously pursued. One such isotope is99Tc. We have performed a number of preliminary tests to examine the technical feasibility of AMS for the detection of99Tc. The questions addressed were negative ion production in the cesium sputter source, transport efficiency for the ions through the spectrometer, and detection efficiency for99Tc ions after the spectrometer. Based on the positive results of these tests, we have begun to develo measurement protocol.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02389759
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