Abstract
1.1. Aim To assess the prevalence of MEFV mutations in Caucasian children with Henoch-Schi?½nlein purpura (HSP) and to investigate a possible association between the two diseases in a population with presumably low incidence of familial Mediterranean fever (FMF). 1.2. Methods One hundred and two children diagnosed with HSP between January 2002 and February 2009 were included in the study. Clinical data were obtained from medical charts. Children were tested for 6 common MEFV mutations. To find out the carrier rate of mutations in MEFV gene in Slovenian population a control group of 105 apparently healthy adults was screened. 1.3. Results Heterozygous MEFV gene mutations were found in 6% of children with HSP and in 7% of apparently healthy adults. The most common allelic variants found in both groups were as follows: V726A in 5 participants, K695R in 4 participants, E148Q in 3 participants and M694V in 1 participant. No significant differences in HSP clinical picture between the group of children with and without mutations in MEFV were found. HSP patients with MEFV mutations were younger than patients without MEFV mutations. 1.4. Conclusion In contrast to previously published researches, MEFV mutations are not more frequent in children with HSP comparing to apparently healthy population and have no influence on the clinical presentation of HSP.
Highlights
Since the discovery of Nanog3, Oct4 and Sox2 as stem cell markers a special attention has been drawn to maintain the pluripotency during differentiation of germ layers into different cell lineages in early embryonic life [1,2]
The role of Sox2 as stem cell marker has been well documented in tumor and over expression in the combination with Oct4 play an important role in Glioma [6,7]
The high frequency of complete disappearance of Oct4 (91.00%) and Sox2 (64.00%) gene were observed in Acute Myeloid Leukemia (AML) cases with calculated odd ratio for Oct4 (3.63) and Sox2 (2.05) with confidence interval (C.I.) at 95% (0.280-101.483) and (0.406-18.180), respectively as details were documented in (Table 2)
Summary
Since the discovery of Nanog, Oct and Sox as stem cell markers a special attention has been drawn to maintain the pluripotency during differentiation of germ layers into different cell lineages in early embryonic life [1,2]. Acute Myeloid Leukemia (AML) is characterized by chromosome translocation t(4;11)(q21;23) and act as model of multi cell lineage system. The bone-marrow cells are characterized by accumulation of early myeloid cells which fail to further differentiate and mature. Oct, Nanog and Sox are prime transcriptional factor for cellular proliferation, differentiation and maintenance of pluripotency in embryonic stem cells. The role of Nanog is required to maintain pluripotency in embryonic cell, embryonic carcinoma, seminoma and germ cell neoplasia including cultured cells [8,9]
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