DNA damage in subpopulations of human lymphocytes irradiated with doses in the range of 0-1 Gy of X-radiation

We compared three methods usually applied in biological dosimetry for estimation of radiation-induced DNA damage in human T and B lymphocytes: alkaline comet assay, micronucleus (MN) test and formation of histone gamma-H2AX foci. Human peripheral blood lymphocytes were fractionated using T cells and B cells isolation kits. Cells were irradiated with doses in the range of 0-1 Gy of X-rays. Induction of DNA damage was assessed by the standard alkaline comet assay, MN test and histone gammaH2AX foci immunofluorescence assay. Notwithstanding different end-points measured by the applied methods, all tests revealed a similar induction of DNA damage in B lymphocytes as compared with T lymphocytes. The results indicated that all three tests detect DNA damage with similar sensitivity, the lowest dose being approximately 0.3 Gy. The difference between irradiated and control cells was expressed as the ratio of the value obtained for irradiated cells (1 Gy) to that for control cells. The highest ratio was obtained for formation of gammaH2AX foci and was 6.2 for T and 13.8 for B lymphocytes, whereas those for comet assay and micronucleus test were 3.5; 3.6 and 5.6; 4.8, respectively

Analysis of clinical symptoms and selected hematological indices in hospitalized children with Ascaris lumbricoides infection from the northeastern region of Poland

Ascariasis is the most common soil-transmitted helminth infection in the world. The objective of this study was to analyze the clinical symptoms and selected hematological indices of ascariasis in hospitalized children from the northeastern region of Poland. Patients in the Pediatric Ward hospitalized in the Regional Hospital in Dąbrowa Białostocka in the period of 2005–2007 were included in this retrospective study. The intestinal stage of ascariasis was diagnosed on the basis of positive coprological survey performed using the decantation technique. A total of 938 patients were included in the study, 1801 stool samples were evaluated, and A. lumbricoides-positive tests were obtained from 252 children. Ascaris-positive young children (3 yrs) accounted for 3.0% of all hospitalized children, Ascarispositive preschool-aged children (4–7 yrs) accounted for 8.1% and school-aged children (8–18 yrs) for 15.8%. Seasonal patterns were observed in the prevalence of A. lumbricoides (maximum in August–December). There was no relationship between BMI z-score, hemoglobin levels and prevalence of infection with Ascaris lumbricoides. Significant predictors of intestinal stage ascariasis in a multivariate logistic regression model were: abdominal pain as a reason for hospital admission (OR–2.19; 95%CI 1.62–2.95; p<0.001) and age from 4 to 7 years (OR–2.0; 95%CI 1.41–2.80; p<0.001). The prevalence rate of ascariasis was not higher in the group of patients with atopic diseases (bronchial asthma, allergic rhinitis, atopic dermatitis) and co-existing ascariasis did not affect the eosinophil counts in the peripheral blood. Ascariasis is still a current pediatric clinical problem characterized by non-specific clinical manifestations, which should be taken into consideration in the differential diagnosis of children’s diseases

Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases

A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility for optimal genetic counseling and future therapy. USH2A defects are the most frequent cause of USH2 and are also causative in individuals with arRP. Therefore, USH2A is an important target for genetic screening. The aim of this study was to assess unscreened or incompletely screened and unexplained USH2 and arRP cases for (likely) pathogenic USH2A variants. Molecular inversion probe (MIP)-based sequencing was performed for the USH2A exons and their flanking regions, as well as published deep-intronic variants. This was done to identify single nucleotide variants (SNVs) and copy number variants (CNVs) in 29 unscreened or partially pre-screened USH2 and 11 partially pre-screened arRP subjects. In 29 out of these 40 cases, two (likely) pathogenic variants were successfully identified. Four of the identified SNVs and one CNV were novel. One previously identified synonymous variant was demonstrated to affect pre-mRNA splicing. In conclusion, genetic diagnoses were obtained for a majority of cases, which confirms that MIP-based sequencing is an effective screening tool for USH2A. Seven unexplained cases were selected for future analysis with whole genome sequencing