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See detailImproved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study.
Put, Natalie; Konings, Peter; Rack, Katrina et al

in Genes, Chromosomes & Cancer (2009), 48(10), 843-53

We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic ... [more ▼]

We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral blood or bone marrow were set up with the addition of either the conventional B-cell mitogen 12-O-tetradecanoyl-phorbol-13-acetate (TPA) or a combination of CpG oligonucleotide (CpG) and interleukin-2 (IL-2). Cytogenetic analyses were performed on both cultures. Clonal abnormalities were identified in 116 cases (53%). In 78 cases (36%), the aberrant clone was detected in both cultures. Among these, the percentages of aberrant metaphases were similar in both conditions in 17 cases, higher in the CpG/IL-2 culture in 43 cases, and higher in the TPA culture in 18 cases. Clonal aberrations were detected in only one culture, either in CpG/IL-2 or TPA in 33 (15%) and 5 (2%) cases, respectively. Taken together, abnormal karyotypes were observed in 51% with CpG/IL-2 and 38% with TPA (P < 0.0001). Application of FISH (n = 201) allowed the detection of abnormalities not visible by conventional cytogenetic analysis in 80 cases: del(13q) (n = 71), del(11q) (n = 5), +12 (n = 2), del(14q) (n = 1), and del(17p) (n = 1). In conclusion, our results confirm that CpG/IL-2 stimulation increases the detection rate of chromosomal abnormalities in CLL compared with TPA and that further improvement can be obtained by FISH. However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques. [less ▲]

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See detailHeritability of blood concentrations of sex-steroids in relation to body composition in young adult male siblings.
Bogaert, Veerle; Taes, Youri; Konings, Peter et al

in Clinical Endocrinology (2008), 69(1), 129-35

OBJECTIVE: Sex steroid concentrations in men are related to body composition and both are determined by genetic and environmental factors. This study investigates heritability estimates of sex steroid ... [more ▼]

OBJECTIVE: Sex steroid concentrations in men are related to body composition and both are determined by genetic and environmental factors. This study investigates heritability estimates of sex steroid serum concentrations and body composition as well as the genetic and environmental components of their interrelation. PATIENTS: Six hundred and seventy-four men (25-45 years) were included in this study with 274 independent pairs of brothers. MEASUREMENTS: Body composition and regional fat mass estimates were determined using dual-energy X-ray absorptiometry. Serum testosterone (T), SHBG, oestradiol (E(2)) and LH levels were determined by immunoassay; free T and E(2) levels were calculated. RESULTS: Both sex steroid hormone concentrations and indices of body composition exhibited significant heritability estimates. Among sex steroid hormones, T had the highest heritability (h(2) = 0.65), followed by free T (h(2) = 0.54). A heritability of 0.73 was observed for SHBG; a heritability estimate of 0.83 was obtained for body weight. Significant genetic correlations were found between whole body fat mass and serum T (rho(G) = -0.46), free T (rho(G) = -0.27) and SHBG (rho(G) = -0.48) concentrations. No genetic relationship was observed between total (F) E(2) or LH concentrations, respectively, and body composition. CONCLUSION: Both sex steroid serum levels and body composition are under strong genetic control. Their interrelation is in part underlied by a genetic correlation, indicative of the action of shared genes. [less ▲]

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