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Concurrent detection of minimal residual disease (MRD) in childhood acute lymphoblastic leukaemia by flow cytometry and real-time PCR 总被引:5,自引:0,他引:5
Kerst G Kreyenberg H Roth C Well C Dietz K Coustan-Smith E Campana D Koscielniak E Niemeyer C Schlegel PG Müller I Niethammer D Bader P 《British journal of haematology》2005,128(6):774-782
Minimal (i.e. submicroscopic) residual disease (MRD) predicts outcome in childhood acute lymphoblastic leukaemia (ALL). To be used clinically, MRD assays must be reliable and accurate. Two well-established techniques, flow cytometry (FC) and polymerase chain reaction (PCR), can detect leukaemic cells with a sensitivity of 0.01% (10(-4)). We analysed diagnostic samples of 45 ALL-patients (37 B-lineage ALL, eight T-lineage ALL) by four-colour FC and real-time PCR. Leukaemia-associated immunophenotypes, at a sensitivity of MRD detection by FC at the 0.01% level, were identified in 41 cases (91%); antigen-receptor gene rearrangements suitable for MRD detection with a sensitivity of 0.01% or better by PCR were identified in 38 cases (84%). The combined use of FC and PCR allowed MRD monitoring in all 45 patients. In 105 follow-up samples, MRD estimates by both methods were highly concordant, with a deviation factor of <5 by Bland-Altman analysis. Importantly, the concordance between FC and PCR was also observed in regenerating bone marrow samples containing high proportions of CD19(+) cells, and in samples studied 24 h after collection. We conclude that both MRD assays yield generally concordant results. Their combined use should enable MRD monitoring in virtually all patients and prevent false-negative results due to clonal evolution or phenotypic shifts. 相似文献
884.
Human leukocyte antigen class II alleles may contribute to the severity of hepatitis C virus-related liver disease 总被引:4,自引:0,他引:4
Hüe S Cacoub P Renou C Halfon P Thibault V Charlotte F Picon M Rifflet H Piette JC Pol S Caillat-Zucman S 《The Journal of infectious diseases》2002,185(1):106-109
To investigate whether genetic differences in cytokine promoter polymorphisms effect various outcomes after exposure to Epstein-Barr virus (EBV) infection, 30 patients with EBV-positive gastric carcinoma (GC), 120 patients with EBV-negative GC, and 220 control subjects were enrolled. Promoter polymorphisms of tumor necrosis factor (TNF)-alpha at positions -238 and -308 and of interleukin (IL)-10 at position -1082 were determined. The frequency of the high-producer allele (-308A) in the TNF-alpha gene was significantly higher among EBV-positive GC patients compared with control subjects (23.3% vs. 12.0%, P<.05), whereas the frequency of the high-producer allele (-1082G) in the IL-10 gene was significantly higher among EBV-negative GC patients compared with control subjects (6.3% vs. 3.0%, P<.05). These data support the notion that genetic factors may modify the outcomes of infectious diseases through different TNF-alpha- or IL-10-producing capabilities. 相似文献
885.
David L. Saunders Suwanna Chaorattanakawee Panita Gosi Charlotte Lanteri Sok Somethy Worachet Kuntawunginn Mali Ittiverakul Soklyda Chann Carrie Gregory Char Meng Chuor Satharath Prom Michele D. Spring Chanthap Lon 《Antimicrobial agents and chemotherapy》2016,60(3):1896-1898
Our recent report of dihydroartemisinin-piperaquine failure to treat Plasmodium falciparum infections in Cambodia adds new urgency to the search for alternative treatments. Despite dihydroartemisinin-piperaquine failure, and higher piperaquine 50% inhibitory concentrations (IC50s) following reanalysis than those previously reported, P. falciparum remained sensitive to atovaquone (ATQ) in vitro. There were no point mutations in the P. falciparum cytochrome b ATQ resistance gene. Mefloquine, artemisinin, chloroquine, and quinine IC50s remained comparable to those from other recent reports. Atovaquone-proguanil may be a useful stopgap but remains susceptible to developing resistance when used as blood-stage therapy. 相似文献
886.
A room for design: Through participatory design young adults with schizophrenia become strong collaborators 下载免费PDF全文
Malene Terp Birgitte Schantz Laursen Rikke Jørgensen Jan Mainz Charlotte D. Bjørnes 《International journal of mental health nursing》2016,25(6):496-506
Smartphone technology is being increasingly viewed as key to engaging young adults with schizophrenia in their own mental health care. In an attempt to use smartphones as an engagement tool, we conducted a participatory design process, where young adults with schizophrenia (n = 4), healthcare providers (n = 7), software designers (n = 3), graphic designer (n = 1), graphic recorder (n = 1), and team leader (n = 1) co‐designed a smartphone application for use in early phase schizophrenia care. This paper reports the co‐design process. Based on a variety of written data‐sources, the paper describes if, and how, participatory design can help construct a physical and relational environment that enables young adults with schizophrenia to become active participants in the design of a more participatory mental health practice. Guided by Etienne Wenger's construct of Community of Practice, three major categories of characteristics and construction of a physical and relational environment supporting and inspiring participation and engagement were identified: (i) a pre‐narrative about a community of practice, (ii) the room for design is a community of practice and (iii) the community of practice as a practice of special qualities. It is concluded that participatory design can support and inspire participation and engagement in the development of mental health care with young adults with schizophrenia, given that the environment in which participatory design unfolds is transparent, flexible, secure and informal. 相似文献
887.
Vestergaard P Emborg C Støving RK Hagen C Mosekilde L Brixen K 《Orthopaedic nursing / National Association of Orthopaedic Nurses》2003,22(5):325-331
PURPOSE: To analyze fracture risk and bone mineral density in patients with eating disorders (anorexia nervosa, bulimia nervosa, and other eating disorders). DESIGN: Clinical overview. FINDINGS: Bone mineral density is decreased and fracture risk increased in patients with anorexia nervosa. In patients with bulimia nervosa, bone mineral is only marginally decreased and fracture risk marginally increased. In patients with other eating disorders (eating disorders not otherwise specified), bone mineral density is decreased and fracture risk increased. CONCLUSIONS: Fracture risk is increased in patients with eating disorders. An eating disorder should be suspected in severely underweight young individuals (primarily girls) presenting with fractures, especially low-energy fractures. 相似文献
888.
Extent of Laminin-5 Assembly and Secretion Effect Junctional Epidermolysis Bullosa Phenotype 总被引:1,自引:0,他引:1 下载免费PDF全文
Chihiro Matsui Phyllis Pereira C. Kathy Wang Charlotte F. Nelson Timothy Kutzkey Caroline Lanigan David Woodley Masaaki Morohashi Elizabeth A. Welsh Warren K. Hoeffler 《The Journal of experimental medicine》1998,187(8):1273-1283
Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology of JEB. Mutations within laminin-5 genes were diversely located, with the most severe forms of JEB correlating best with premature termination codons, rather than mapping to any particular protein domain. In all six JEB patients, the laminin-5 assembly intermediates we observed were as predicted by our previous work indicating that the α3β3γ2 heterotrimer assembles intracellularly via a β3γ2 heterodimer intermediate. Since assembly precedes secretion, mutations that disrupt protein–protein interactions needed for assembly are predicted to limit the secretion of laminin-5, and likely to interfere with function. However, our data indicate that typically the most severe mutations diminish mRNA stability, and serve as functional null alleles that block chain assembly by resulting in either a deficiency (in the nonlethal mitis variety) or a complete absence (in lethal Herlitz-JEB) of one of the chains needed for laminin-5 heterotrimer assembly. 相似文献
889.
890.
Arash Moghaddam Charlotte Elleser Bahram Biglari Andreas Wentzensen Gerald Zimmermann 《Archives of orthopaedic and trauma surgery》2010,130(1):71-76