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Whole genome microarray expression analysis in blood leucocytes identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia
Örebro University, School of Medical Sciences. Department of Laboratory Medicine, Örebro University Hospital, Faculty of Medicine and Health, Örebro University, Sweden.ORCID iD: 0000-0003-4879-528x
Örebro University, School of Health Sciences. Örebro University Hospital. Department of Laboratory Medicine.
Affymetrix core facility at Novum, BEA, Karolinska Institute, Huddinge, Sweden.
Department of Pediatrics, Örebro University Hospital, Örebro, Sweden Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
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2018 (English)In: Clinical and Experimental Immunology, ISSN 0009-9104, E-ISSN 1365-2249, Vol. 191, no 2, 240-251 p.Article in journal (Refereed) Published
Abstract [en]

A child, 2 years with the "hypercalprotectinemia with hyperzincemia" clinical syndrome presented with atypical symptoms and signs, notably persistent fever of around 38°C, thrombocythaemia of >700 x 10(9) /L, and a predominance of persistent intestinal symptoms. In an effort to find a cure by identifying the dysregulated pathways we analyzed whole-genome mRNA expression by the Affymetrix HG U133 PLUS 2.0 array on three occasions 3 to 5 months apart. Major upregulation was demonstrated for the JAK/STAT pathway including in particular CD177, S100A8, S100A9, and S100A12, accounting for the thrombocytosis; a large number of interleukins, their receptors, and activators, accounting for the febrile apathic state; and the HMBG1 gene, possibly accounting for part of the intestinal symptoms. These results show that gene expression array technology may assist the clinician in the diagnostic workup of individual patients with suspected syndromal states of unknown origin, and the expression data can guide the selection of optimal treatment directed at the identified target pathways.

Place, publisher, year, edition, pages
Wiley-Blackwell Publishing Inc., 2018. Vol. 191, no 2, 240-251 p.
Keyword [en]
expression array, fever, hypercalprotectinaemia, hyperzincaemia, thrombocytaemia
National Category
Medical Genetics Immunology in the medical area
Identifiers
URN: urn:nbn:se:oru:diva-61444DOI: 10.1111/cei.13064ISI: 000419624200012PubMedID: 28984903OAI: oai:DiVA.org:oru-61444DiVA: diva2:1154413
Available from: 2017-11-02 Created: 2017-11-02 Last updated: 2018-01-19Bibliographically approved
In thesis
1. Clinical studies of RNA as a prognostic and diagnostic marker for disease
Open this publication in new window or tab >>Clinical studies of RNA as a prognostic and diagnostic marker for disease
2017 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Technologies for RNA detection are evolving rapidly and gives an op-portunity for discovery of new markers for early detection of complex diseases. Today in clinical work we rely on signs and symptoms in com-bination with the measurement of protein levels for diagnosis. The quick turnaround time of mRNA synthesis may provide an earlier diagnostic signal than protein-based biomarkers assays, in acute dramatic condi-tions such as acute mesenteric ischemia (AMI), for early detection of cancer, as prognostic tool in cancer treatment and as an aid in difficult diagnosis of unknown origin.

The main goals of this thesis was to apply a whole genome approach to study different complex diseases to evaluate the applicability of RNA as a diagnostic or prognostic marker for disease, preferably from an easily accessible source such as peripheral blood. This was investigated in an animal model with induced AMI, a cohort of ovarian cancer patients and in a single-patient study of a girl with a severe inflammatory syn-drome.

Through this thesis we have gained insight into how gene expression is regulated in ischemic intestinal tissue.

We found that a peripheral blood test can distinguish between ovarian cancer patients with or without residual tumour mass after surgery with the help of expression analysis of six genes. We also found that gene expressions of three genes can predict overall survival in peripheral whole blood from ovarian cancer patients. And that gene expression profiles indeed can significantly distinguish between two groups of high and low risk ovarian cancer. In the single-patient study, we tried but failed to device a successful treatment before it was too late. Neverthe-less, the things we learned and the case studies that were published may serve as a diagnostic tool for clinicians facing similar syndromes.

Place, publisher, year, edition, pages
Örebro: Örebro University, 2017. 57 p.
Series
Örebro Studies in Medicine, ISSN 1652-4063 ; 168
Keyword
gene expression, ovarian cancer, hypercalprotectinaemia, hyperzincaemia, ischemia, biomarker
National Category
Other Basic Medicine
Identifiers
urn:nbn:se:oru:diva-61626 (URN)978-91-7529-219-9 (ISBN)
Public defence
2017-12-15, Örebro universitet, Campus USÖ, hörsal C1, Södra Grev Rosengatan 32, Örebro, 09:15 (Swedish)
Opponent
Supervisors
Available from: 2017-10-18 Created: 2017-10-18 Last updated: 2018-01-13Bibliographically approved

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Isaksson, Helena S.Farkas, Sanja A.Nilsson, Torbjörn, K.

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