Haematologica-the Hematology Journal 

About: Haematologica-the Hematology Journal is an academic journal. The journal publishes majorly in the area(s): Chronic lymphocytic leukemia & Myeloid leukemia. Over the lifetime, 49 publications have been published receiving 676 citations.

Screening For Copy-Number Alterations And Loss-Of-Heterozygosity In Chronic Lymphocytic Leukemia - A Comparative Study Of Four Differently Designed, High Resolution Microarray Platforms

Abstract: Screening for gene copy‐number alterations (CNAs) has improved by applying genome‐wide microarrays, where SNP arrays also allow analysis of loss of heterozygozity (LOH). We here analyzed 10 chronic lymphocytic leukemia (CLL) samples using four different high‐resolution platforms: BAC arrays (32K), oligonucleotide arrays (185K, Agilent), and two SNP arrays (250K, Affymetrix and 317K, Illumina). Cross‐platform comparison revealed 29 concordantly detected CNAs, including known recurrent alterations, which confirmed that all platforms are powerful tools when screening for large aberrations. However, detection of 32 additional regions present in 2–3 platforms illustrated a discrepancy in detection of small CNAs, which often involved reported copy‐number variations. LOH analysis using dChip revealed concordance of mainly large regions, but showed numerous, small nonoverlapping regions and LOH escaping detection. Evaluation of baseline variation and copy‐number ratio response showed the best performance for the Agilent platform and confirmed the robustness of BAC arrays. Accordingly, these platforms demonstrated a higher degree of platform‐specific CNAs. The SNP arrays displayed higher technical variation, although this was compensated by high density of elements. Affymetrix detected a higher degree of CNAs compared to Illumina, while the latter showed a lower noise level and higher detection rate in the LOH analysis. Large‐scale studies of genomic aberrations are now feasible, but new tools for LOH analysis are requested. © 2008 Wiley‐Liss, Inc.

Physical activity as prevention of osteoporosis in patients with severe haemophilia on long term prophylaxis

Abstract: Summary. Physical activity has been considered as an important factor for bone density and as a factor facilitating prevention of osteoporosis. Bone density has been reported to be reduced in haemophilia. To examine the relation between different aspects of physical activity and bone mineral density (BMD) in patients with severe haemophilia on long‐term prophylaxis. The study group consisted of 38 patients with severe haemophilia (mean age 30.5 years). All patients received long‐term prophylaxis to prevent bleeding. The bone density (BMD g cm−2) of the total body, lumbar spine, total hip, femoral neck and trochanter was measured by dual energy X‐ray absorptiometry. Physical activity was assessed using the self‐report Modifiable Activity Questionnaire, an instrument which collects information about leisure and occupational activities for the prior 12 months. There was only significant correlation between duration and intensity of vigorous physical activity and bone density at lumber spine L1‐L4; for duration (r = 0.429 and P = 0.020) and for intensity (r = 0.430 and P = 0.019); whereas no significant correlation between all aspects of physical activity and bone density at any other measured sites. With adequate long‐term prophylaxis, adult patients with haemophilia are maintaining bone mass, whereas the level of physical activity in terms of intensity and duration play a minor role. These results may support the proposition that the responsiveness to mechanical strain is probably more important for bone mass development in children and during adolescence than in adults and underscores the importance of early onset prophylaxis.