Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are found in 25% of patients, while mutations in other proteins of the small ribosomal subunit--RPS17 and RPS24--have been found in a fraction of patients. Recently, mutations in RPL5, RPL11, and RPL35a of the large ribosomal subunit have also been reported in several DBA patients. Here, we present the identification of mutations in the RPL5 and RPL11 genes in patients from the Czech DBA Registry. Mutations in RPL5 were identified in eight patients from 6 out of 28 families (21.4%), and mutations in RPL11 in two patients from 2 out of 28 families (7.1%). Interestingly, all 10 patients with either an RPL5 or RPL11 mutation exhibited one or more physical anomalies; specifically, thumb anomalies (flat thenar) were always present, while no such anomaly was observed in seven patients with an RPS19 mutation. Moreover, 9 out of 10 patients with either an RPL5 or RPL11 mutation were born small for gestational age (SGA) compared to 3 out of 7 patients from the RPS19-mutated group. These observations may suggest that mutations, at least in RPL5, seem to generally have more profound impact on fetal development than mutations in RPS19. Since RPL5 and RPL11, together with RPL23, are also involved in the MDM2-mediated p53 pathway regulation, we also screened the RPL23 gene for mutations; however, no mutations were identified.
HLA class II alleles (DRB1, DQB1 and DQA1) were investigated in 20 Bulgarian children (12 girls and 8 boys) with Juvenile chronic idiopathic oligoarthritis. Our patients are in age from 1.5 to 12 years (mean age 5.2 years). All they have minimal or moderate inflammatory activity based on clinical symptoms, ESR, CRP, RF-negative. Eight of the patients (all girls) have chronic anterior uveitis and positive ANA. In evolution of 1.5 to 2 years the patients remained in oligoarthritic type of JIA.
The control group included 130 unrelated healthy individuals from the Bulgarian population without family history of autoimmune disease.
Genomic DNA from JIA children and the controls was extracted from whole venous blood using the standard salting-out method. HLA-DRB1,-DQB1 and –DQA1 genotyping was performed by PCR-SSP method. 13 HLA-DRB1, 6 DQB1 and 10 DQA1 allele groups were found in the patients and controls. Statistically significant predisposing association was established for DRB1*08 (OR=4.02, p<0.05), DQB1*04 (OR=3.50, p<0.05) and DQA1*0401 (OR=4.02, p<0.05). Although no difference in allele association was observed in children with and without eye involvement, in these with chronic anterior uveitis the frequency of alleles mentioned was higher. These alleles show strong linkage disequilibrium and the same association has been found in all clinical types of JIA within the 12th IHWCS .
Conclusion: Our data confirm predisposing JCA associations found in other Caucasian populations. Since the same HLA class II association was found in children with and without eye uveitis, patients without eye involvement are not safeguarded against development of uveitis.
# P002. DECREASE IN CELLULARITY AND CYTOKINE EXPRESSION BY AUTOLOGOUS STEM CELL TRANSPLANTATION (ASCT) IN PATIENTS WITH JUVENILE IDIOPATHIC ARTHRITIS (JIA) {#article-title-2}
Objective: ASCT has been used as an experimental treatment in refractory JIA. The aim of this study was to analyze the effects of ASCT at the site of inflammation. Therefore, we examined the changes in the cellular infiltrate and the expression of pro-inflammatory cytokines in the synovium in …
Retrospektivni analýza centralni databaze dětských pacientů s ALL s cilem stanovit cetnost trombozy mozkových splavů u děti s diagnozou ALL v Ceske republice. Analýza byla zaměřena na Protokol ALL AIEOP BFM 2009 podle ktereho se lecilo v obdobi od 1.12.2010 do 31.12.2016 v 8 dětských hematologických a hemato-onkologických centrech, ve kterých se diagnostikuje a leci akutni lymfoblasticka leukemie. Zjistěne výsledky výzkumu jsou v souladu s publikovanými daty zahranicnich autorů o cetnosti a zavažnosti trombozy mozkových splavů v průběhu lecby dětske ALL. Diky vysoke kvalitě pece byly výsledky lecby ceských děti s ALL přiznive. Žadný z pacientů nezemřel ani netrpi zavažnými neurologickými nasledky.
