Objective: Treatment of acute lymphoblastic leukemia (ALL) in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR) rates and the overall survival (OS) in adult ALLs. Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard-risk group-normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23)/MLL, t(9;22)/bcr-abl, t(1;19), t(8;14), C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined. Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations -t(9;22), t(8q24), t(11q23), t(1;19). The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC), and random cytogenetic aberrations had the longest OS. OS, 3-and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively). Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL -they allow predicting therapy resistance and the OS time after intense treatment. (Turk J Hematol 2011; 28: 176-85)
Gene amplification (amp) is one of the basic mechanisms connected with overexpression of oncogenes. The c-MYC (located in 8q24) and MLL (located in 11q23) are the most often over represented genes that lead to a rapid proliferation of the affected cell clone in patients with myeloid neoplasms. Assessment of the level of amp c-MYC or amp MLL in the cases with trisomy 8 (+8) or trisomy 11 (+11) and myeloid malignances is necessary for a more precise estimation of the disease progression.A total of 26 patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) were included in the study: 18 with +8, six with +11 and two with complex karyotypes suspected of the partial trisomy. Routine cytogenetic analysis and fluorescent in situ hybridization (FISH) were applied to indicate the chromosome alterations and genes amp in the bone marrow cells.Amp c-MYC was observed in 12 from 18 (66.7%) patients with +8. All the patients with +11 demonstrated a different level of amp MLL. In most of the cases with MDS (9/10), the coincidence of the +8 or +11 with amp c-MYC or amp MLL, respectively, leads to transformation to AML and/or short overall survival. Our data suggest that amp c-MYC and amp MLL develop in conformity with +8 and +11, especially in cases with progressive deviations in the karyotype as an aggressive expansion of an aberrant cell clone and appearance of additional chromosome anomalies.
BackgroundUric acid (UA) is delivered with the help of the liver and vascular endothelium where xantine oxidase can be accumulated. Relationship between endothelium disfunction and elevated level of serum UA was proved [1]. Moreover, it was found out that in the presence of endothelium disturbances, membrane particles (the diameter up to 1mkm) appear in the blood [2]. These facts point out the significance of studying the functional condition of the cells, wich in its turn demands their intravital examination.ObjectivesTo study intravital reactions of erythrocytes (Er), leukocytes, endotheliocytes using the method of microelectrophoresis (MEP).MethodsThe venous blood of 36 patients with gout was tested. These patients (age 45-72 years) made group No. 1, where 70% suffered from arterial hypertension. The control group (group No. 2) - 38 healthy people at the age of 35-72 years. Both groups were compared according to the age and sex. Heparin was administered as anticoagulant. Serum UA and C-reactive protein were measured in the routine laboratory. Intravital study of blood cells was performed using the original technique of low-frequency alternating MEP, which has advantages over the conventional MEP (patent RF No.2168176, 2001).Estimation of Er reactions was done on calculating the percentage of cells upon to the alternating electric field and amplitude of Er oscillation. For this purpose the licensed program of information processing Simple1 was used. To identify leukocytes and membrane bubles dyeing with the solution of 0.1% methylene blue was carried out. Identifying and calculating endotheliocytes were carried out using the method of Hladovec et Rossman 1973.ResultsMean CRP in group No. 1 was 0.47±0.16mg/l, while in group No. 2 was equal to 0. Mean serum UA was 475.4±23 mkmol/l in the first group, in the second it was 305±33mkmol/l. The percentage of bioelectrical activated cells in group No. 1 was 56.3±8.6%, No. 2 84.5%. The oscilation amplitude of erithrocytes in an alternating electric field: in group No. 1 8.9±1.4mkm and No. 2 3.2±0.7mkm. External cytoplasmatic membrane blebbing in group of patients with gout was 60.3±1.6%, also in this group was found membrane agregation (27%) in the form of garlads of fused balls, in the control group these features were absent. Thus, in patients with gout the tendency to reduction of a number of bioelectrical activated cells has been revealed. Oscilation amplitud of Er was trustworthy higher in the control group in comparison with the group of patients with gout (p<0.05).Conclusions1. There is the tendency to reduction of bioelectrical activated Er in patients with gout. 2. Gout is accompanied by the growth of the functional activity of leukocytes which manifests in increasing number of cytoplasmic membrane blebbing. 3. In the blood of some patients with gout has been revealed membrane agregates. 4. The number of endotheliocytes in blood of gout patients increased which testifies the presence of endothelial damage.ReferencesInzhutova A.I, Larionov A.A., Petrova M.M. Stab...
Background:Systemic sclerosis (SSc) is a connective tissue disease (CTD) most frequently associated with Raynaud’s phenomenon – RP (96%), followed by mixed CTD (MCTD) (86%), systemic lupus erythematosus – SLE (31%), undifferentiated CTD (30%), rheumatoid arthritis – RA (22%) and Sjogren’s disease – SD (13%)1. RP can manifest as a classical triple-colour change with pallor (ischaemic phase) followed by cyanosis (deoxygenation) and erythema (reperfusion)2,1. However, this triple-colour change only occurs in 19% of cases2,3. Majority of patients report an episodic double-colour change, consisting of pallor and cyanosis, pallor and erythema or cyanosis and erythema2. In a 4.8-year follow-up, 37.2% of RP patients developed rheumatic diseases (RD), 8.1% had other causes, in 54,7% RP remained primary4.Objectives:To study the incidence and manifestations of secondary RP in RD.Methods:A questionnaire survey conducted in 230 patients with RD.Results:RP was detected in 45.6% of RD patients (n=105), 54.4% of patients with RD had no RP (n=125). RP was 4 times more frequent in females than in males (F:M 4:1). In RP group, 87 patients (82%) had autoimmune RD: SSc (55.2%), SLE (17.1%), RA (6%),dermatomyositis (3.8%), cross syndrome (3.8%), MCTD (1.9%), SD (0.9%).Only 84% of RP patients had positive answers to all three questions that characterizeRP (1. Is there an unusual sensitivity of fingers to cold? 2. Do fingers change colorwhen exposed to cold? 3. Do they turn white and/or bluish?). Biphasic color changes (whitening-blueness; whitening-redness; blue-redness) were observed in 33 (31.4%) patients with RP, three-phase changes – in 32 patients (30.5%). Blueness of fingers to cold was more frequent in SLE than in SSc (p=0.027).Redness of fingers to cold occurred more often in cross syndrome, MCTD, SD, RA, vasculitis than in SSc (p<0.001) and in vasculitis than in SLE (p=0.035). In SSc patients, whitening of fingers to cold was more common than redness (p=0.037) and two-/three-phase changes of fingers color in the cold were more frequent than single-phase changes (p<0.001).The frequency of RP attacks was detected more than once a day in 44 (42%) patients. In 73% of cases, RP did not show signs of deep digital ischemia. Digital ulcers (active) were observed in 13 (12.3%) patients, fractures in a finger area – 23 (21.9%), digital scars – 15 (14.2%), phalange amputations – 7 (6.6%).Conclusion:Patients with RD and secondary RP most often have SSC (55%), less often – SLE (17%), RA (6%), DM (3%). In SSc and SLE patients, Raynaud’s reddening of fingers to cold is less common than in other RD. In SSc, two-/three-phase changes of fingers color in the cold are more frequent than single-phase changes. In SLE, fingers turn blue in the cold more often than in SSc.References:[1]Prete M, Fatone MC, Favoino E, Perosa F. Raynaud’s phenomenon: from molecular pathogenesis to therapy.Autoimmun Rev2014;13:655–67.[2]Linnemann B, Erbe M. Raynaud’s phenomenon – assessment and differential diagnoses.Vasa2015;44:166–77.[3]Heidrich H, Helmis J, Fahrig C, Hovelmann R, Martini N. Clinical characteristics of primary, secondary and suspected secondary Raynaud’s syndrome and diagnostic transition in the long-term follow-up. A retrospective study in 900 patients.Vasa2008;37 (Suppl. 73):3–25.[4]Pavlov–Dolijanovic S, Damjanov NS, VujasinovicStupar NZ, Radunovic GL, Stojanovic RM, Babic D. Late appearance and exacerbation of primary Raynaud’s phenomenon attacks can predict future development of connective tissue disease: a retrospective chart review of 3035 patients.RheumatolInt2013;33:921–6.Acknowledgments:Professor LP. Anan’eva, Professor RT. AlekperovDisclosure of Interests:Ilshat Gaisin Speakers bureau: Boehringer Ingelheim, KRKA, Berlin-Chemie Menarini, Sanofi, Zukhra Bagautdinova: None declared, Rosa Valeeva: None declared, Nikolay Maximov Speakers bureau: Pfizer, KRKA, Oxana Desinova: None declared, Rushana Shayakhmetova: None declared, Irina Sabelnikova: None declared, Anna Tukmacheva: None declared, Larisa Gibadullina: None declared, Natalya Burlaeva: None declared, Elena Agareva: None declared, Yulia Ochkurova: None declared, Tatyana Bragina: None declared, Ksenia Alexandrova: None declared, Elvira Reutova: None declared
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