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EN
Acetylsalicylic acid (ASA) and ?-2-pyrazylidene-?-cyano N-butyl acetamide (PD-101), a new antiaggregatory pyrazine derivative were tested for their genotoxicity in human lymphocytes in vitro using the sister chromatid exchange (SCE) technique. Both compounds were found to be inactive in inducing SCE in concentration from 1muM up to 1000 muM. The agents displayed inhibitory effect on cell kinetics.
EN
Diethylenetriamine (DETA) and Sodium Nitroprusside (NaNP), the exogenous NO-generating compounds, were tested for their genotoxicity in human lymphocytes in vitro using the sister chromatid exchange (SCE) technique. Both compounds were found to be inactive in inducing SCE in concentrations from 0.3 to 30 pM. However both compounds displayed an inhibiting effect on cell kinetics.
EN
Cultured chondrocytes seeded on appropriate scaffold can be used in treatment of vesico-uretheral-reflux. Aims: influence of alginate scaffold on extracellular matrix production by rats chondrocytes. Observation of alginate degradation in rat bladder. Dedifferentiated chondrocytes were seeded onto alginate fibers and alginate gel beads and stained with alcian blue. Alginate was injected in bladder wall of 10 rats with following histological examination (H+E and alcian blue). Chondrocytes became round on alginate fibers and glycosaminoglicane positive in alginate beads. Volume of the implanted alginate decreased after 8th week. Alginate gel allows chondrocytes to reexpress phenotype.
EN
The analysis was performed on bone marrow cells derived from 96 patients with acute leukaemia (AL): 76 with acute myelogenous leukaemia (AML) and 20 with acute lymphoblastic leukaemia (ALL). Aberrations of chromosome 7 were revealed in 20 (21%) of 96 analysed cases: in 14 (18%) with AML and in six (30%) with ALL. Structural aberrations, present in 13 patients (eight with AML and five with ALL), were unbalanced and led to partial monosomy (12 cases) or trisomy (four cases) of chromosome 7. Twelve (86%) out of 14 AML and all the ALL patients with chromosome 7 aberrations had complex karyotypes in their bone marrow cells. Monosomy 7 and 7q losses were frequently observed in the AML group, whereas, in the ALL group, gains in 7q and losses in the short arms constituted most chromosome 7 aberrations. The occurrence of monosomy, or of losses in 7q, results in a worse response to induction therapy in AML patients. The complete remission (CR) rate was significantly lower in this group in comparison to the group of AML patients with a normal karyotype (p = 0.01) in bone marrow cells.
EN
We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33). The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases. The oldest patient also had Hashimoto disease and diabetes mellitus type 2. So far, these 2 conditions have not been reported in adult patients with JBS. Features typical for distal 22q trisomy in our patients include muscular hypotonia and prenatal failure to thrive, seen in 2 and 1 cases, respectively. We also present a family member with 11q24.2-qter trisomy and 22q13.33-qter monosomy, whose clinical phenotype is partially overlapping with several dysmorphic features of JBS. In addition, multiple pregnancy losses and infantile deaths occurred in this family, suggesting that these chromosomal imbalances may produce a lethal phenotype. FISH with a panel of BAC probes determined the accurate sizes of the deletion 11q (9.9 Mb) and trisomy 22q (0.8 Mb). To date, only 5 cases of submicroscopic 22q13.3-qter trisomy have been reported. A detailed clinical description of our patients, along with a precise cytogenetic designation of chromosomal breakpoints, allow further refinement of genotype-phenotype correlation for distal imbalances in 11q and 22q.
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