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Tissue zinc levels in a child with hypercalprotectinaemia and hyperzincaemia: a case report and a review of the literature
Departments of Pediatrics, Örebro University Hospital, Örebro, Sweden.
Department of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden;.
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden. Department of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden; Department of Clinical Medicine and Biomedicine, Örebro University, Örebro, Sweden.ORCID iD: 0000-0003-4879-528X
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden. Department of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden; Department of Clinical Medicine and Biomedicine, Örebro University, Örebro, Sweden.
2012 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 72, no 1, p. 34-38Article, review/survey (Refereed) Published
Abstract [en]

Background: A girl suffering from a rare syndrome of unknown aetiology, termed hypercalprotectinaemia, was evaluated for tissue zinc status, because calprotectin is a protein which chelates Zn at multiple binding-sites, which might have affected the distribution of Zn in her body.

Methods: Measurement of serum, urine, hair and nail zinc (Zn) concentration, complemented with measurement of total Zn in ultrafiltrates of plasma.

Results: Her serum Zn concentration was 105-133 mu mol/L. Zn levels in her hair (102 mu g/g), nail (90 mu g/g) and urine (3-12 mu mol/L; 20-80 mu g/dL) were all at the lower end of the reference intervals described in the sparse literature. Zn concentrations in ultrafiltrates of plasma were below the detection limit (<100 nmol/L). Thus, the elevated serum Zn did not translate into a similarly increased level of Zn in any of the tissues tested, nor in free Zn concentrations. Instead it appeared to be a result of Zn being chelated to binder proteins, most probably calprotectin.

Conclusion: Her grossly elevated serum calprotectin concentration is probably able to raise circulating total Zn concentrations without raising ionized concentrations, but this Zn remains confined to the circulating blood as well as to excreted body fluids, particularly faeces.

Place, publisher, year, edition, pages
London, United Kingdom: Informa Healthcare, 2012. Vol. 72, no 1, p. 34-38
Keywords [en]
Tissue zinc, zinc excretion, calprotectin, inflammation, growth retardation
National Category
Medical Biotechnology Clinical Laboratory Medicine
Research subject
Biomedicine
Identifiers
URN: urn:nbn:se:oru:diva-21627DOI: 10.3109/00365513.2011.623177ISI: 000299283700005PubMedID: 22017170Scopus ID: 2-s2.0-84856056036OAI: oai:DiVA.org:oru-21627DiVA, id: diva2:501320
Available from: 2012-02-14 Created: 2012-02-14 Last updated: 2019-03-29Bibliographically 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. p. 57
Series
Örebro Studies in Medicine, ISSN 1652-4063 ; 168
Keywords
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.Nilsson, Torbjörn K.

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