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São José do Rio Preto, Brazil

Previato M.,Immunogenetics Laboratory | Borim M.P.,Immunogenetics Laboratory | Liberatore R.D.R.,Pediatric Endocrinology Outpatient Clinic | Brandao de Mattos C.C.,Immunogenetics Laboratory | de Mattos L.C.,Immunogenetics Laboratory
Vox Sanguinis | Year: 2015

The red blood cell Le(a-b-) phenotype was proposed as risk factor for type 1 diabetes, but contradictory results were published elsewhere. This study re-examined the potential association between Lewis histo-blood group system and type 1 diabetes. Material and Methods: Patients and controls of both sexes, Caucasians and non-Caucasians, matched by sex, geographical origin and ethnicity were evaluated. The red blood cell Lewis phenotypes were identified by gel column agglutination and also inferred from the FUT2 and FUT3 genotyping. Results: The Le(a-b-) phenotype was prevalent in patients with type 1 diabetes, and the Le(a-b+) phenotype was prevalent in controls when both were determined by gel columns agglutination. No differences were observed in the frequencies of the Le(a-b-) phenotype inferred from the FUT2 and FUT3 genotyping between patients and controls. Conclusions: The Lewis red blood cell phenotyping and genotyping reveal divergence in the association of Le(a-b-) phenotype and type 1 diabetes. © 2014 International Society of Blood Transfusion.

Kumorowicz-Czoch M.,Jagiellonian University | Madetko-Talowska A.,Jagiellonian University | Dudek A.,Pediatric Endocrinology Outpatient Clinic | Tylek-Lemanska D.,University Childrens Hospital of Cracow
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Background: The morphological and biochemical phenotype of PAX8 mutation in patients with congenital hypothyroidism (CH) is variable. The contribution of mutations in PAX8 gene in children with CH and dysgenetic thyroid glands still remains a subject of interest for researchers. Patients and methods: Some 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia (n=6), or thyroid dysgenesis of unknown cause (n=10) were enrolled. The study participants were born in south-eastern Poland in the years 1993-2012 and were selected for neonatal mass screening for CH. DNA was extracted from peripheral blood samples using Master Pure DNA Purification Kit (Epicentre Biotechnologies, Madison, WI, USA). The 12 exons of the PAX8 gene along with their exon-intron boundaries were amplified and sequenced by the Sanger method. Capillary electrophoresis was run on ABI 3500 (Applied Biosystems, Carlsbad, CA, USA). Results: Novel heterozygous transition in exon 3 (c.68G>A) was detected in a 3-year-old girl with a thyroid hypoplasia. This substitution was not identified in the patient's parents (de novo event). Additionally, a novel genetic variant in 3′UTR region of exon 12 (c.∗416C>T) occurred in a 3-year-old boy with ectopic thyroid tissue and concomitant congenital urogenital malformation. This heterozygous variant was also detected in other healthy family members. Thirteen well-described single nucleotide polymorphisms were revealed in the PAX8 gene. Conclusions: The study reports on the occurrence of two novel heterozygous substitutions in the PAX8 gene. Estimation of the contribution of the revealed c.68G>A variant to the etiology of CH in a girl with hypoplastic thyroid requires further functional analysis. © 2015 by De Gruyter.

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