Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: KEGG:D03343 (MDS)
 2,225 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We treated a 16-month-old girl with myelodysplastic syndrome (MDS; refractory anemia with excess of blasts subtype, RAEB by FAB classification) that developed into acute megakaryoblastic leukemia (ANLL-M7). The blast cells were positive for CD41 shown by flow cytometry and for platelet peroxidase by electron microscopy. Cytogenetically, five kinds of abnormal karyotypes were apparent at the initial visit and karyotypic progression (clonal evolution) was also evident. These karyotypes were considered to be derived from the putative original clone, 48,XX, +6, +21. The observed karyotypes were considered 50,XX, +4,add(4)(q31), +6,add(7)(p22),add(10)(q24),add(12)(q11), +20, +21, + mar[karyotype A];48,XX,add(4)(q31), +6,add(10)(q24),add(12)(q11), +21 [karyotype B];48,XX, +6,t(6;13)(p23;q14), +21 [karyotype C];51,XX, +X, t(6;13)(p23;q14), + der(6)t(6;13)(p23;q14), +21, +21, + mar [karyotype D]; and 49,XX, +X, -3,t(6;13)(p23;q14), +der(6)t(6;13)(p23;q14), -12, +21, +21, + mar [karyotype E]. It seems karyotypes B and C were derived from the putative clone; karyotype B developed into karyotype A; and karyotype C developed into karyotype E through karyotype D. After development of ANLL-M7, the cytogenetic study showed a karyotype with further karyotypic progression. The patient was treated with high-dose cytosine arabinoside (HD AraC) followed by allogeneic bone marrow transplantation. Despite intensive care, she died 3 months after the transplantation.
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PMID:Childhood myelodysplastic syndrome with clonal evolution progressing to acute megakaryoblastic leukemia (ANLL-M7). 822 7

We studied 22 patients with hematological neoplasias which included: 12 patients with a diagnosis of Acute Myeloblastic Leukemia (AML) following the morphology and cytochemistry criteria established by FAB (French, American and British Committee), a Myeloblastic Leukemia secondary to MDS (Myelodysplastic Syndromes) and a biphenotypic acute leukemia where we established the relationship between the traditional peroxidase reaction with the anti-MPO by APAAP. We also carried out the nonspecific esterase reaction and determined the immunologic phenotype by FACS technology. The same procedure was used for the cellular analysis of the light chains kappa (kappa) and lambda (lambda) in 3 cases of hairy cell leukemia, one lymphoma and 4 cases of plasma cell neoplasia and reactive plasma cell disease. We conclude that immunocytochemical reactions must be used when morphology and traditional cytochemical reactions need to be confirmed in order to establish a correct diagnosis and this is specially important for B and T lymphomas. Their prognostic value is restricted and the results are useful as a complement to morphology, cytochemistry and immunological determinations.
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PMID:[Immunocytochemistry techniques for the diagnosis of hematologic neoplasms]. 1034 12

We evaluated 443 outpatients and inpatients in Keio University Hospital between 1994 and 1999. Morphologic features from peripheral blood and bone marrow aspiration were evaluated in our hematology laboratory, using Wright-Giemsa, peroxidase staining films and other cytochemistry. Immunophenotype was determined by cell surface antigen analysis by laser flow cytometry, FACscan, using various monoclonal antibodies. Information on cytogenetic and molecular genetic characteristics can be also integrated for diagnosis. One hundred fifty patients were diagnosed with acute leukemia, in which 59 cases were ALL and 91 cases were AML. Seventy-four cases were MDS, 76 cases were myeloproliferative disorders, 21 cases were CLL related disorders, 104 patients were malignant lymphoma, and 18 cases were multiple myeloma. The ratio of male to female was 1.7. The probability of diagnostic rate by Immunophenotyping was estimated by Discriminant analysis in 189 patients, using multivariate analysis of immunophenotype compared to morphology. The average probability by immunophenotypic analysis for diagnostic rate was 91.7%, in which the probability for NHL was very high of 97.1%. Thus, morphologic and immunophenotypic analysis is most essential and basic approach in laboratory hematology, from the perspective of rapid and precise diagnostic methods. Recent advance appreciates the rapid contribution for diagnosis by immunophenotypic analysis. Furthermore, Tele-hematology would contribute the standardization for morphologic method in the near future.
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PMID:[Morphology and immunophenotyping in hematological malignancies]. 1106 91

In myelodysplatic syndromes and acute myeloid leukemia (MDS/AML) deletion of the 11q14 region is a rare chromosomal defect (incidence: 0.6-1.0%), included within the intermediate risk criteria by the International Prognostic Scoring System. No fluorescence in situ hybridization (FISH) study has yet been performed to identify a common breakpoint region (CBR). In our study through FISH with bacterial artificial chromosomes and commercial probes, we analyzed seven patients with MDS/AML harboring 11q14 deletion on conventional cytogenetic analysis. FISH revealed deletions in five patients and amplifications in two. Three patients with deletion carried a CBR, two had a deletion involving a more centromeric breakpoint. These five patients exhibited multilineage dysplasia, blast cells with large round nuclei, loose chromatin, small and abundant nucleoli, and vacuolated cytoplasm with very thin Auer bodies. In conclusion, the morphological features which occur independently of the extent of the deletion are of multilineage dysplasia in MDS and leukemic blasts strongly reactive to peroxidase in AML; despite the variable size of the deleted area, some patients harbor a CBR.
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PMID:MDS/AML del(11)(q14) Share Common Morphological Features Despite Different Chromosomal Breakpoints. 2817 12

The phenolic composition and content of olive fruit are some of the attributes that determine oil quality. This composition depends on the olive variety, the cultivation system, and the fruit's ripeness. This study considered two olive varieties (Manzanilla and Morisca), under two water regimes (irrigated and rainfed), harvested at three stages of maturation (S1, S2, and S3), over three consecutive campaigns (2011, 2012, and 2013). The accumulation of phenols in the fruit was found to depend only on the stage of ripeness, while the flavonoid and phenylpropanoid contents depended also on the variety and the water regime. Superoxide dismutase (SOD) activity was linked to O2- production, which in turn depended on water regime, variety, and stage of maturation (this last being a process involving ROS). The peroxidase (POX) activity seemed only to depend on ripeness, while polyphenol oxidase (PPO) activity varied from year to year as well as presenting a strong ripeness dependence that was in clear coherence with the levels of phenolic compounds that the olives accumulate. All these relationships between the variables and the factors conform a dataset with the structure of a multidimensional array that is difficult to interpret using conventional techniques of statistical analysis. This work takes a novel approach (MultiDimensional Scaling associated with a Partial Triadic Analysis, MDS-PTA) to the analysis of this type of data structure which allows its correct interpretation. The analysis showed that the state of maturation of the olives is the most clearly discriminating factor, far more so than the cultivar, water regime, or year. Thus, the phenols and the total antioxidant activity (FRAP) showed strong clustering, being closely related in all three years studied. The oxidant and antioxidant activities showed a certain tendency to cluster, although in these cases the year also had an influence as a factor, indicating that these parameters depend more on external factors and less on ripeness.
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PMID:Influence of cultivar, irrigation, ripening stage, and annual variability on the oxidant/antioxidant systems of olives as determined by MDS-PTA. 3099 25